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 6 11185653 11185653 + Silent SNP G G T TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chr6:11185653G>T c.2247C>A c.(2245-2247)gtC>gtA p.V749V ACC 6 11192636 11192636 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr6:11192636G>A c.605C>T c.(604-606)tCa>tTa p.S202L BLCA 6 11185604 11185604 + Nonsense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr6:11185604G>A c.2296C>T c.(2296-2298)Cag>Tag p.Q766* BLCA 6 11185681 11185681 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:11185681C>T c.2219G>A c.(2218-2220)cGa>cAa p.R740Q BLCA 6 11185845 11185845 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:11185845C>T c.2055G>A c.(2053-2055)tcG>tcA p.S685S BLCA 6 11190347 11190347 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 g.chr6:11190347C>T c.1755G>A c.(1753-1755)caG>caA p.Q585Q BLCA 6 11190647 11190647 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr6:11190647C>T c.1455G>A c.(1453-1455)atG>atA p.M485I BLCA 6 11190713 11190713 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr6:11190713G>C c.1389C>G c.(1387-1389)ctC>ctG p.L463L BLCA 6 11190924 11190924 + Missense_Mutation SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr6:11190924G>A c.1178C>T c.(1177-1179)tCa>tTa p.S393L BLCA 6 11193838 11193838 + Missense_Mutation SNP G G A TCGA-XF-A9SK-01A-11D-A42E-08 TCGA-XF-A9SK-10A-01D-A42H-08 g.chr6:11193838G>A c.547C>T c.(547-549)Cat>Tat p.H183Y BLCA 6 11213600 11213600 + Missense_Mutation SNP C C G TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr6:11213600C>G c.373G>C c.(373-375)Ggc>Cgc p.G125R BLCA 6 11232730 11232761 + Start_Codon_Del DEL CTCTTACCTTATACTTCATTTCGGCAGCGGTG CTCTTACCTTATACTTCATTTCGGCAGCGGTG - TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr6:11232730_11232761delCTCTTACCTTATACTTCATTTCGGCAGCGGTG BRCA 6 11185522 11185522 + Missense_Mutation SNP G G T TCGA-D8-A3Z5-01A-41D-A243-09 TCGA-D8-A3Z5-10A-01D-A243-09 g.chr6:11185522G>T c.2378C>A c.(2377-2379)gCa>gAa p.A793E BRCA 6 11185572 11185572 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr6:11185572G>A c.2328C>T c.(2326-2328)gtC>gtT p.V776V BRCA 6 11185729 11185729 + Missense_Mutation SNP T T C TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 g.chr6:11185729T>C c.2171A>G c.(2170-2172)aAc>aGc p.N724S BRCA 6 11188468 11188468 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 g.chr6:11188468G>A c.1978C>T c.(1978-1980)Cag>Tag p.Q660* BRCA 6 11190312 11190312 + Missense_Mutation SNP T T A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 g.chr6:11190312T>A c.1790A>T c.(1789-1791)cAg>cTg p.Q597L BRCA 6 11190371 11190371 + Silent SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr6:11190371C>T c.1731G>A c.(1729-1731)acG>acA p.T577T BRCA 6 11190372 11190372 + Missense_Mutation SNP G G A TCGA-E9-A1RH-01A-21D-A167-09 TCGA-E9-A1RH-10A-01D-A167-09 g.chr6:11190372G>A c.1730C>T c.(1729-1731)aCg>aTg p.T577M BRCA 6 11190431 11190431 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:11190431G>A c.1671C>T c.(1669-1671)ttC>ttT p.F557F BRCA 6 11190945 11190945 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr6:11190945G>A c.1157C>T c.(1156-1158)tCc>tTc p.S386F BRCA 6 11191022 11191022 + Missense_Mutation SNP G G C TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr6:11191022G>C c.1080C>G c.(1078-1080)gaC>gaG p.D360E BRCA 6 11191135 11191135 + Missense_Mutation SNP C C T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 g.chr6:11191135C>T c.967G>A c.(967-969)Gtt>Att p.V323I BRCA 6 11191170 11191170 + Missense_Mutation SNP C C T TCGA-A8-A07W-01A-11W-A019-09 TCGA-A8-A07W-10A-01W-A021-09 g.chr6:11191170C>T c.932G>A c.(931-933)gGc>gAc p.G311D BRCA 6 11191331 11191331 + Silent SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 g.chr6:11191331C>T c.771G>A c.(769-771)ccG>ccA p.P257P BRCA 6 11193886 11193886 + Missense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 g.chr6:11193886C>T c.499G>A c.(499-501)Gag>Aag p.E167K BRCA 6 11213899 11213899 + Missense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 g.chr6:11213899C>T c.74G>A c.(73-75)cGc>cAc p.R25H CESC 6 11213753 11213753 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr6:11213753G>A c.220C>T c.(220-222)Cac>Tac p.H74Y CHOL 6 11191311 11191311 + Missense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr6:11191311G>T c.791C>A c.(790-792)cCt>cAt p.P264H COAD 6 11185508 11185508 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr6:11185508C>T c.2392G>A c.(2392-2394)Gcc>Acc p.A798T COAD 6 11185508 11185508 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr6:11185508C>T c.2392G>A c.(2392-2394)Gcc>Acc p.A798T COAD 6 11185548 11185548 + Silent SNP G G A TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr6:11185548G>A c.2352C>T c.(2350-2352)tgC>tgT p.C784C COAD 6 11185671 11185671 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr6:11185671C>T c.2229G>A c.(2227-2229)gtG>gtA p.V743V COAD 6 11185718 11185718 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:11185718C>T c.2182G>A c.(2182-2184)Gca>Aca p.A728T COAD 6 11185845 11185845 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:11185845C>T c.2055G>A c.(2053-2055)tcG>tcA p.S685S COAD 6 11185845 11185845 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:11185845C>T c.2055G>A c.(2053-2055)tcG>tcA p.S685S COAD 6 11188491 11188491 + Missense_Mutation SNP T T C TCGA-F4-6805-01A-11D-1835-10 TCGA-F4-6805-10A-01D-1835-10 g.chr6:11188491T>C c.1955A>G c.(1954-1956)aAt>aGt p.N652S COAD 6 11190701 11190701 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:11190701C>A c.1401G>T c.(1399-1401)aaG>aaT p.K467N COAD 6 11191046 11191046 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr6:11191046C>T c.1056G>A c.(1054-1056)ccG>ccA p.P352P COAD 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr6:11191156C>T c.946G>A c.(946-948)Gca>Aca p.A316T COAD 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr6:11191156C>T c.946G>A c.(946-948)Gca>Aca p.A316T COAD 6 11191368 11191368 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:11191368delG c.734delC c.(733-735)cctfs p.P246fs COAD 6 11191423 11191423 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:11191423G>A c.679C>T c.(679-681)Ccc>Tcc p.P227S COAD 6 11192673 11192673 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:11192673C>T c.568G>A c.(568-570)Gac>Aac p.D190N COAD 6 11213517 11213517 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:11213517T>C c.456A>G c.(454-456)aaA>aaG p.K152K COAD 6 11213542 11213542 + Frame_Shift_Del DEL C C - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:11213542delC c.431delG c.(430-432)ggafs p.G144fs COAD 6 11213554 11213554 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:11213554C>A c.419G>T c.(418-420)aGa>aTa p.R140I COADREAD 6 11185508 11185508 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr6:11185508C>T c.2392G>A c.(2392-2394)Gcc>Acc p.A798T COADREAD 6 11185508 11185508 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr6:11185508C>T c.2392G>A c.(2392-2394)Gcc>Acc p.A798T COADREAD 6 11185548 11185548 + Silent SNP G G A TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr6:11185548G>A c.2352C>T c.(2350-2352)tgC>tgT p.C784C COADREAD 6 11185671 11185671 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr6:11185671C>T c.2229G>A c.(2227-2229)gtG>gtA p.V743V COADREAD 6 11185718 11185718 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr6:11185718C>T c.2182G>A c.(2182-2184)Gca>Aca p.A728T COADREAD 6 11185845 11185845 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:11185845C>T c.2055G>A c.(2053-2055)tcG>tcA p.S685S COADREAD 6 11185845 11185845 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:11185845C>T c.2055G>A c.(2053-2055)tcG>tcA p.S685S COADREAD 6 11188491 11188491 + Missense_Mutation SNP T T C TCGA-F4-6805-01A-11D-1835-10 TCGA-F4-6805-10A-01D-1835-10 g.chr6:11188491T>C c.1955A>G c.(1954-1956)aAt>aGt p.N652S COADREAD 6 11190701 11190701 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:11190701C>A c.1401G>T c.(1399-1401)aaG>aaT p.K467N COADREAD 6 11191046 11191046 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr6:11191046C>T c.1056G>A c.(1054-1056)ccG>ccA p.P352P COADREAD 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr6:11191156C>T c.946G>A c.(946-948)Gca>Aca p.A316T COADREAD 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr6:11191156C>T c.946G>A c.(946-948)Gca>Aca p.A316T COADREAD 6 11191368 11191368 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:11191368delG c.734delC c.(733-735)cctfs p.P246fs COADREAD 6 11191423 11191423 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr6:11191423G>A c.679C>T c.(679-681)Ccc>Tcc p.P227S COADREAD 6 11192673 11192673 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:11192673C>T c.568G>A c.(568-570)Gac>Aac p.D190N COADREAD 6 11213517 11213517 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:11213517T>C c.456A>G c.(454-456)aaA>aaG p.K152K COADREAD 6 11213542 11213542 + Frame_Shift_Del DEL C C - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:11213542delC c.431delG c.(430-432)ggafs p.G144fs COADREAD 6 11213554 11213554 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:11213554C>A c.419G>T c.(418-420)aGa>aTa p.R140I COADREAD 6 11213906 11213906 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:11213906C>T c.67G>A c.(67-69)Gcc>Acc p.A23T DLBC 6 11190859 11190859 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:11190859G>A c.1243C>T c.(1243-1245)Cgg>Tgg p.R415W ESCA 6 11185398 11185398 + Missense_Mutation SNP G G T TCGA-LN-A7HV-01A-21D-A351-09 TCGA-LN-A7HV-10A-01D-A351-09 g.chr6:11185398G>T c.2502C>A c.(2500-2502)ttC>ttA p.F834L ESCA 6 11185638 11185638 + Missense_Mutation SNP G G T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr6:11185638G>T c.2262C>A c.(2260-2262)caC>caA p.H754Q ESCA 6 11190694 11190694 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr6:11190694C>T c.1408G>A c.(1408-1410)Gtt>Att p.V470I ESCA 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr6:11191156C>T c.946G>A c.(946-948)Gca>Aca p.A316T GBMLGG 6 11190997 11190997 + Missense_Mutation SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr6:11190997A>G c.1105T>C c.(1105-1107)Tct>Cct p.S369P GBMLGG 6 11191146 11191146 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:11191146A>G c.956T>C c.(955-957)gTc>gCc p.V319A GBMLGG 6 11213626 11213626 + Missense_Mutation SNP C C T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 g.chr6:11213626C>T c.347G>A c.(346-348)gGa>gAa p.G116E HNSC 6 11190781 11190781 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr6:11190781T>C c.1321A>G c.(1321-1323)Atg>Gtg p.M441V HNSC 6 11191251 11191251 + Missense_Mutation SNP G G T TCGA-CR-7380-01A-11D-2012-08 TCGA-CR-7380-10A-01D-2013-08 g.chr6:11191251G>T c.851C>A c.(850-852)cCa>cAa p.P284Q HNSC 6 11213618 11213618 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr6:11213618G>C c.355C>G c.(355-357)Caa>Gaa p.Q119E HNSC 6 11213915 11213915 + Missense_Mutation SNP C C T TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr6:11213915C>T c.58G>A c.(58-60)Gag>Aag p.E20K KICH 6 11185614 11185614 + Silent SNP C C T TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:11185614C>T c.2286G>A c.(2284-2286)acG>acA p.T762T KIPAN 6 11185614 11185614 + Silent SNP C C T TCGA-KM-8442-01A-11D-2310-10 TCGA-KM-8442-10A-01D-2311-10 g.chr6:11185614C>T c.2286G>A c.(2284-2286)acG>acA p.T762T KIPAN 6 11185683 11185684 + Frame_Shift_Ins INS - - G TCGA-BP-4973-01A-01D-1462-08 TCGA-BP-4973-11A-01D-1462-08 g.chr6:11185683_11185684insG c.2216_2217insC c.(2215-2217)ccgfs p.P739fs KIPAN 6 11185765 11185765 + Missense_Mutation SNP T T C TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr6:11185765T>C c.2135A>G c.(2134-2136)tAt>tGt p.Y712C KIPAN 6 11213548 11213548 + Missense_Mutation SNP A A G TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr6:11213548A>G c.425T>C c.(424-426)aTt>aCt p.I142T KIRC 6 11185683 11185684 + Frame_Shift_Ins INS - - G TCGA-BP-4973-01A-01D-1462-08 TCGA-BP-4973-11A-01D-1462-08 g.chr6:11185683_11185684insG c.2216_2217insC c.(2215-2217)ccgfs p.P739fs KIRC 6 11213548 11213548 + Missense_Mutation SNP A A G TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr6:11213548A>G c.425T>C c.(424-426)aTt>aCt p.I142T KIRP 6 11185765 11185765 + Missense_Mutation SNP T T C TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chr6:11185765T>C c.2135A>G c.(2134-2136)tAt>tGt p.Y712C LGG 6 11190997 11190997 + Missense_Mutation SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr6:11190997A>G c.1105T>C c.(1105-1107)Tct>Cct p.S369P LGG 6 11191146 11191146 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:11191146A>G c.956T>C c.(955-957)gTc>gCc p.V319A LGG 6 11213626 11213626 + Missense_Mutation SNP C C T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 g.chr6:11213626C>T c.347G>A c.(346-348)gGa>gAa p.G116E LIHC 6 11190264 11190264 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr6:11190264delG c.1838delC c.(1837-1839)cctfs p.P613fs LIHC 6 11213881 11213881 + Missense_Mutation SNP G G A TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr6:11213881G>A c.92C>T c.(91-93)aCc>aTc p.T31I LUAD 6 11185423 11185423 + Frame_Shift_Del DEL C C - TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr6:11185423delC c.2477delG c.(2476-2478)cgcfs p.R826fs LUAD 6 11185641 11185641 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr6:11185641T>A c.2259A>T c.(2257-2259)gcA>gcT p.A753A LUAD 6 11190595 11190595 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr6:11190595T>A c.1507A>T c.(1507-1509)Agc>Tgc p.S503C LUAD 6 11190713 11190713 + Silent SNP G G A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr6:11190713G>A c.1389C>T c.(1387-1389)ctC>ctT p.L463L LUAD 6 11190841 11190841 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr6:11190841C>G c.1261G>C c.(1261-1263)Gag>Cag p.E421Q LUAD 6 11191136 11191136 + Silent SNP G G C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr6:11191136G>C c.966C>G c.(964-966)ggC>ggG p.G322G LUSC 6 11185539 11185539 + Silent SNP G G C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr6:11185539G>C c.2361C>G c.(2359-2361)ctC>ctG p.L787L LUSC 6 11185599 11185599 + Silent SNP C C T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr6:11185599C>T c.2301G>A c.(2299-2301)gtG>gtA p.V767V LUSC 6 11190369 11190369 + Missense_Mutation SNP T T A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr6:11190369T>A c.1733A>T c.(1732-1734)gAg>gTg p.E578V LUSC 6 11190802 11190802 + Missense_Mutation SNP C C A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 g.chr6:11190802C>A c.1300G>T c.(1300-1302)Gac>Tac p.D434Y PCPG 6 11213930 11213930 + Missense_Mutation SNP C C T TCGA-W2-A7HH-01A-11D-A35I-08 TCGA-W2-A7HH-10C-01D-A35G-08 g.chr6:11213930C>T c.43G>A c.(43-45)Gtc>Atc p.V15I PRAD 6 11185821 11185821 + Silent SNP T T C TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr6:11185821T>C c.2079A>G c.(2077-2079)ctA>ctG p.L693L PRAD 6 11191315 11191315 + Missense_Mutation SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 g.chr6:11191315T>C c.787A>G c.(787-789)Att>Gtt p.I263V PRAD 6 11213711 11213711 + Nonsense_Mutation SNP G G A TCGA-V1-A8X3-01A-11D-A377-08 TCGA-V1-A8X3-10A-01D-A37A-08 g.chr6:11213711G>A c.262C>T c.(262-264)Caa>Taa p.Q88* READ 6 11213906 11213906 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:11213906C>T c.67G>A c.(67-69)Gcc>Acc p.A23T SARC 6 11185447 11185447 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr6:11185447G>A c.2453C>T c.(2452-2454)tCt>tTt p.S818F SARC 6 11185840 11185840 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr6:11185840C>T c.2060G>A c.(2059-2061)tGg>tAg p.W687* SKCM 6 11185769 11185771 + In_Frame_Del DEL AGA AGA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr6:11185769_11185771delAGA c.2129_2131delTCT c.(2128-2133)ttctac>tac p.F710del SKCM 6 11191312 11191312 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:11191312G>A c.790C>T c.(790-792)Cct>Tct p.P264S SKCM 6 11191366 11191366 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:11191366G>A c.736C>T c.(736-738)Ccc>Tcc p.P246S SKCM 6 11191368 11191368 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr6:11191368G>A c.734C>T c.(733-735)cCt>cTt p.P245L SKCM 6 11213690 11213690 + Missense_Mutation SNP G G T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr6:11213690G>T c.283C>A c.(283-285)Cca>Aca p.P95T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 6 11190630 11190630 single base substitution C T 3_prime_UTR_variant ALL-US 6 11190630 11190630 single base substitution C T downstream_gene_variant ALL-US 6 11190630 11190630 single base substitution C T missense_variant R491Q 1472G>A BLCA-CN 6 11188484 11188484 single base substitution C T 3_prime_UTR_variant BLCA-CN 6 11188484 11188484 single base substitution C T downstream_gene_variant BLCA-CN 6 11188484 11188484 single base substitution C T missense_variant M654I 1962G>A BLCA-US 6 11185604 11185604 single base substitution G A 3_prime_UTR_variant BLCA-US 6 11185604 11185604 single base substitution G A stop_gained Q766* 2296C>T BLCA-US 6 11190347 11190347 single base substitution C T 3_prime_UTR_variant BLCA-US 6 11190347 11190347 single base substitution C T downstream_gene_variant BLCA-US 6 11190347 11190347 single base substitution C T synonymous_variant Q585Q 1755G>A BLCA-US 6 11190647 11190647 single base substitution C T 3_prime_UTR_variant BLCA-US 6 11190647 11190647 single base substitution C T downstream_gene_variant BLCA-US 6 11190647 11190647 single base substitution C T missense_variant M485I 1455G>A BLCA-US 6 11190713 11190713 single base substitution G C 3_prime_UTR_variant BLCA-US 6 11190713 11190713 single base substitution G C downstream_gene_variant BLCA-US 6 11190713 11190713 single base substitution G C synonymous_variant L463L 1389C>G BOCA-FR 6 11239487 11239487 single base substitution A G intron_variant BOCA-FR 6 11320594 11320594 single base substitution C G intron_variant BOCA-FR 6 11328084 11328084 single base substitution C T downstream_gene_variant BOCA-FR 6 11328084 11328084 single base substitution C T intron_variant BRCA-EU 6 11179018 11179042 deletion of <=200bp CTTGTTTCACTGACTCTTTTCTAAT - downstream_gene_variant BRCA-EU 6 11179436 11179436 single base substitution G T downstream_gene_variant BRCA-EU 6 11179541 11179541 single base substitution C T downstream_gene_variant BRCA-EU 6 11180195 11180195 single base substitution A G downstream_gene_variant BRCA-EU 6 11180268 11180268 single base substitution C A downstream_gene_variant BRCA-EU 6 11180471 11180471 single base substitution G A downstream_gene_variant BRCA-EU 6 11180655 11180655 single base substitution C G downstream_gene_variant BRCA-EU 6 11182756 11182756 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 11182933 11182933 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 11182933 11182933 single base substitution T C downstream_gene_variant BRCA-EU 6 11184564 11184564 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 11184564 11184564 single base substitution T C downstream_gene_variant BRCA-EU 6 11184763 11184763 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 11184763 11184763 single base substitution C T downstream_gene_variant BRCA-EU 6 11185539 11185539 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 11185539 11185539 single base substitution G C synonymous_variant L787L 2361C>G BRCA-EU 6 11187781 11187782 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 6 11187781 11187782 deletion of <=200bp AG - intron_variant BRCA-EU 6 11187800 11187800 single base substitution A G downstream_gene_variant BRCA-EU 6 11187800 11187800 single base substitution A G intron_variant BRCA-EU 6 11188006 11188006 single base substitution A G downstream_gene_variant BRCA-EU 6 11188006 11188006 single base substitution A G intron_variant BRCA-EU 6 11188903 11188903 single base substitution C G downstream_gene_variant BRCA-EU 6 11188903 11188903 single base substitution C G intron_variant BRCA-EU 6 11188974 11188974 single base substitution G A downstream_gene_variant BRCA-EU 6 11188974 11188974 single base substitution G A intron_variant BRCA-EU 6 11189770 11189770 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 11189770 11189770 deletion of <=200bp T - intron_variant BRCA-EU 6 11190367 11190367 single base substitution A G 3_prime_UTR_variant BRCA-EU 6 11190367 11190367 single base substitution A G downstream_gene_variant BRCA-EU 6 11190367 11190367 single base substitution A G missense_variant Y579H 1735T>C BRCA-EU 6 11190480 11190480 single base substitution T A 3_prime_UTR_variant BRCA-EU 6 11190480 11190480 single base substitution T A downstream_gene_variant BRCA-EU 6 11190480 11190480 single base substitution T A missense_variant D541V 1622A>T BRCA-EU 6 11190631 11190631 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 11190631 11190631 single base substitution G A downstream_gene_variant BRCA-EU 6 11190631 11190631 single base substitution G A stop_gained R491* 1471C>T BRCA-EU 6 11192432 11192432 single base substitution C G intron_variant BRCA-EU 6 11194430 11194430 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 11194430 11194430 deletion of <=200bp A - intron_variant BRCA-EU 6 11194430 11194430 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 11195022 11195022 single base substitution C T downstream_gene_variant BRCA-EU 6 11195022 11195022 single base substitution C T intron_variant BRCA-EU 6 11195022 11195022 single base substitution C T upstream_gene_variant BRCA-EU 6 11195051 11195051 single base substitution C T downstream_gene_variant BRCA-EU 6 11195051 11195051 single base substitution C T intron_variant BRCA-EU 6 11195051 11195051 single base substitution C T upstream_gene_variant BRCA-EU 6 11195257 11195260 deletion of <=200bp AAGA - downstream_gene_variant BRCA-EU 6 11195257 11195260 deletion of <=200bp AAGA - intron_variant BRCA-EU 6 11195257 11195260 deletion of <=200bp AAGA - upstream_gene_variant BRCA-EU 6 11196223 11196223 single base substitution G A downstream_gene_variant BRCA-EU 6 11196223 11196223 single base substitution G A intron_variant BRCA-EU 6 11196223 11196223 single base substitution G A upstream_gene_variant BRCA-EU 6 11196379 11196379 single base substitution T A downstream_gene_variant BRCA-EU 6 11196379 11196379 single base substitution T A intron_variant BRCA-EU 6 11196379 11196379 single base substitution T A upstream_gene_variant BRCA-EU 6 11196410 11196410 single base substitution G A downstream_gene_variant BRCA-EU 6 11196410 11196410 single base substitution G A intron_variant BRCA-EU 6 11196410 11196410 single base substitution G A upstream_gene_variant BRCA-EU 6 11197324 11197324 single base substitution C T downstream_gene_variant BRCA-EU 6 11197324 11197324 single base substitution C T intron_variant BRCA-EU 6 11197324 11197324 single base substitution C T upstream_gene_variant BRCA-EU 6 11198841 11198841 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 11198841 11198841 single base substitution G C intron_variant BRCA-EU 6 11199012 11199012 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 11199012 11199012 single base substitution A T intron_variant BRCA-EU 6 11201194 11201194 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 11201194 11201194 single base substitution G A intron_variant BRCA-EU 6 11201305 11201305 single base substitution G T intron_variant BRCA-EU 6 11202862 11202862 single base substitution C T intron_variant BRCA-EU 6 11203810 11203810 single base substitution G C intron_variant BRCA-EU 6 11204693 11204693 single base substitution G A intron_variant BRCA-EU 6 11204991 11204991 single base substitution A G intron_variant BRCA-EU 6 11205324 11205324 single base substitution G T intron_variant BRCA-EU 6 11205778 11205778 single base substitution G A intron_variant BRCA-EU 6 11205933 11205933 single base substitution C T intron_variant BRCA-EU 6 11206642 11206642 single base substitution A C intron_variant BRCA-EU 6 11206659 11206659 insertion of <=200bp - A intron_variant BRCA-EU 6 11208400 11208400 single base substitution G C intron_variant BRCA-EU 6 11210102 11210102 single base substitution G A downstream_gene_variant BRCA-EU 6 11210102 11210102 single base substitution G A intron_variant BRCA-EU 6 11210244 11210244 single base substitution G T downstream_gene_variant BRCA-EU 6 11210244 11210244 single base substitution G T intron_variant BRCA-EU 6 11211375 11211375 single base substitution G A downstream_gene_variant BRCA-EU 6 11211375 11211375 single base substitution G A intron_variant BRCA-EU 6 11211603 11211603 single base substitution A T downstream_gene_variant BRCA-EU 6 11211603 11211603 single base substitution A T intron_variant BRCA-EU 6 11212016 11212016 single base substitution G C downstream_gene_variant BRCA-EU 6 11212016 11212016 single base substitution G C intron_variant BRCA-EU 6 11212542 11212542 single base substitution G A downstream_gene_variant BRCA-EU 6 11212542 11212542 single base substitution G A intron_variant BRCA-EU 6 11214143 11214143 single base substitution C T intron_variant BRCA-EU 6 11216155 11216155 single base substitution G A intron_variant BRCA-EU 6 11216176 11216176 single base substitution G C intron_variant BRCA-EU 6 11216645 11216645 single base substitution T A intron_variant BRCA-EU 6 11217127 11217127 single base substitution G A intron_variant BRCA-EU 6 11217287 11217287 single base substitution G C intron_variant BRCA-EU 6 11217762 11217762 single base substitution C T intron_variant BRCA-EU 6 11218032 11218032 single base substitution G A intron_variant BRCA-EU 6 11219614 11219614 single base substitution C A intron_variant BRCA-EU 6 11220547 11220547 deletion of <=200bp C - intron_variant BRCA-EU 6 11221384 11221384 single base substitution G T intron_variant BRCA-EU 6 11222048 11222048 single base substitution A G intron_variant BRCA-EU 6 11223083 11223083 single base substitution G A intron_variant BRCA-EU 6 11223169 11223169 single base substitution C T intron_variant BRCA-EU 6 11223701 11223701 deletion of <=200bp A - intron_variant BRCA-EU 6 11224087 11224087 deletion of <=200bp A - intron_variant BRCA-EU 6 11224388 11224388 single base substitution A G intron_variant BRCA-EU 6 11224634 11224634 single base substitution G A intron_variant BRCA-EU 6 11225405 11225405 single base substitution A C intron_variant BRCA-EU 6 11225844 11225844 single base substitution C G intron_variant BRCA-EU 6 11226582 11226582 single base substitution A T intron_variant BRCA-EU 6 11229450 11229450 single base substitution C T intron_variant BRCA-EU 6 11232434 11232434 single base substitution G A intron_variant BRCA-EU 6 11232550 11232550 single base substitution G A intron_variant BRCA-EU 6 11234029 11234029 single base substitution G T intron_variant BRCA-EU 6 11234029 11234029 single base substitution G T upstream_gene_variant BRCA-EU 6 11234746 11234746 single base substitution G C intron_variant BRCA-EU 6 11234746 11234746 single base substitution G C upstream_gene_variant BRCA-EU 6 11235939 11235939 single base substitution G A intron_variant BRCA-EU 6 11235939 11235939 single base substitution G A upstream_gene_variant BRCA-EU 6 11238042 11238042 single base substitution C G intron_variant BRCA-EU 6 11241015 11241015 single base substitution G T intron_variant BRCA-EU 6 11241354 11241354 single base substitution C T intron_variant BRCA-EU 6 11242415 11242415 single base substitution A G intron_variant BRCA-EU 6 11242573 11242573 single base substitution G C intron_variant BRCA-EU 6 11244572 11244572 single base substitution C T downstream_gene_variant BRCA-EU 6 11244572 11244572 single base substitution C T intron_variant BRCA-EU 6 11245992 11245992 single base substitution T C downstream_gene_variant BRCA-EU 6 11245992 11245992 single base substitution T C intron_variant BRCA-EU 6 11247099 11247099 single base substitution T C downstream_gene_variant BRCA-EU 6 11247099 11247099 single base substitution T C intron_variant BRCA-EU 6 11248427 11248427 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 11248427 11248427 deletion of <=200bp A - intron_variant BRCA-EU 6 11248535 11248535 deletion of <=200bp C - downstream_gene_variant BRCA-EU 6 11248535 11248535 deletion of <=200bp C - intron_variant BRCA-EU 6 11249788 11249788 single base substitution C T downstream_gene_variant BRCA-EU 6 11249788 11249788 single base substitution C T intron_variant BRCA-EU 6 11249840 11249840 single base substitution A G downstream_gene_variant BRCA-EU 6 11249840 11249840 single base substitution A G intron_variant BRCA-EU 6 11250188 11250188 single base substitution G T downstream_gene_variant BRCA-EU 6 11250188 11250188 single base substitution G T intron_variant BRCA-EU 6 11250961 11250961 single base substitution C T downstream_gene_variant BRCA-EU 6 11250961 11250961 single base substitution C T intron_variant BRCA-EU 6 11251182 11251182 single base substitution C G downstream_gene_variant BRCA-EU 6 11251182 11251182 single base substitution C G intron_variant BRCA-EU 6 11251399 11251399 single base substitution A G downstream_gene_variant BRCA-EU 6 11251399 11251399 single base substitution A G intron_variant BRCA-EU 6 11251894 11251894 single base substitution A G 5_prime_UTR_variant BRCA-EU 6 11251894 11251894 single base substitution A G exon_variant BRCA-EU 6 11251894 11251894 single base substitution A G intron_variant BRCA-EU 6 11252058 11252058 single base substitution C T intron_variant BRCA-EU 6 11253187 11253187 single base substitution G C intron_variant BRCA-EU 6 11253353 11253353 single base substitution G T intron_variant BRCA-EU 6 11253356 11253356 single base substitution T C intron_variant BRCA-EU 6 11254139 11254139 deletion of <=200bp T - intron_variant BRCA-EU 6 11258664 11258664 single base substitution G C intron_variant BRCA-EU 6 11261322 11261322 single base substitution T A intron_variant BRCA-EU 6 11261724 11261724 single base substitution G T intron_variant BRCA-EU 6 11261841 11261841 single base substitution C A intron_variant BRCA-EU 6 11262265 11262265 single base substitution G C intron_variant BRCA-EU 6 11262279 11262279 single base substitution G A intron_variant BRCA-EU 6 11263155 11263155 single base substitution G C intron_variant BRCA-EU 6 11264660 11264660 single base substitution G C intron_variant BRCA-EU 6 11264844 11264844 single base substitution C T intron_variant BRCA-EU 6 11265556 11265556 single base substitution G T intron_variant BRCA-EU 6 11266415 11266415 single base substitution A T intron_variant BRCA-EU 6 11266742 11266742 single base substitution G A downstream_gene_variant BRCA-EU 6 11266742 11266742 single base substitution G A intron_variant BRCA-EU 6 11269019 11269019 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 11269019 11269019 deletion of <=200bp A - intron_variant BRCA-EU 6 11269822 11269822 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 11269822 11269822 insertion of <=200bp - T intron_variant BRCA-EU 6 11271824 11271824 single base substitution G A exon_variant BRCA-EU 6 11271824 11271824 single base substitution G A intron_variant BRCA-EU 6 11272914 11272914 single base substitution T C intron_variant BRCA-EU 6 11273053 11273053 single base substitution T A intron_variant BRCA-EU 6 11273544 11273544 single base substitution T A intron_variant BRCA-EU 6 11273592 11273593 deletion of <=200bp CT - intron_variant BRCA-EU 6 11273644 11273644 single base substitution A G intron_variant BRCA-EU 6 11274099 11274099 single base substitution C T intron_variant BRCA-EU 6 11275992 11275992 single base substitution G A intron_variant BRCA-EU 6 11276747 11276747 single base substitution G T intron_variant BRCA-EU 6 11276973 11276973 single base substitution C T intron_variant BRCA-EU 6 11277492 11277492 single base substitution A G intron_variant BRCA-EU 6 11277493 11277493 single base substitution T G intron_variant BRCA-EU 6 11277841 11277841 single base substitution C A intron_variant BRCA-EU 6 11277921 11277921 single base substitution G C intron_variant BRCA-EU 6 11280334 11280334 single base substitution C G intron_variant BRCA-EU 6 11280827 11280827 single base substitution C T intron_variant BRCA-EU 6 11280961 11280961 single base substitution C T intron_variant BRCA-EU 6 11280997 11280997 single base substitution G A intron_variant BRCA-EU 6 11281120 11281120 single base substitution C A intron_variant BRCA-EU 6 11281150 11281150 single base substitution C G intron_variant BRCA-EU 6 11281453 11281453 single base substitution G T intron_variant BRCA-EU 6 11281888 11281888 single base substitution A C intron_variant BRCA-EU 6 11282312 11282312 single base substitution C T intron_variant BRCA-EU 6 11282318 11282318 single base substitution T A intron_variant BRCA-EU 6 11282408 11282408 single base substitution C T intron_variant BRCA-EU 6 11282459 11282459 single base substitution C T intron_variant BRCA-EU 6 11282837 11282837 single base substitution T G intron_variant BRCA-EU 6 11283558 11283558 single base substitution G A intron_variant BRCA-EU 6 11283883 11283883 single base substitution C G intron_variant BRCA-EU 6 11283988 11283988 single base substitution C A intron_variant BRCA-EU 6 11284014 11284014 single base substitution C G intron_variant BRCA-EU 6 11285065 11285065 single base substitution A G intron_variant BRCA-EU 6 11285117 11285117 single base substitution C G intron_variant BRCA-EU 6 11285465 11285465 single base substitution G A intron_variant BRCA-EU 6 11286672 11286672 single base substitution G A intron_variant BRCA-EU 6 11286738 11286738 single base substitution C T intron_variant BRCA-EU 6 11286996 11286996 single base substitution C G intron_variant BRCA-EU 6 11287091 11287091 single base substitution G C intron_variant BRCA-EU 6 11288233 11288233 single base substitution G C intron_variant BRCA-EU 6 11290115 11290115 single base substitution A G intron_variant BRCA-EU 6 11292335 11292335 single base substitution T G intron_variant BRCA-EU 6 11293426 11293426 single base substitution T G intron_variant BRCA-EU 6 11293748 11293748 single base substitution A C intron_variant BRCA-EU 6 11293854 11293855 deletion of <=200bp TG - intron_variant BRCA-EU 6 11294131 11294131 single base substitution C T intron_variant BRCA-EU 6 11294343 11294343 single base substitution C T intron_variant BRCA-EU 6 11294395 11294395 single base substitution T C intron_variant BRCA-EU 6 11295062 11295062 single base substitution C A intron_variant BRCA-EU 6 11295064 11295064 single base substitution C G intron_variant BRCA-EU 6 11295719 11295719 single base substitution A G intron_variant BRCA-EU 6 11295980 11295980 single base substitution G A intron_variant BRCA-EU 6 11298304 11298304 single base substitution C A intron_variant BRCA-EU 6 11298329 11298329 single base substitution T C intron_variant BRCA-EU 6 11299442 11299442 single base substitution C T intron_variant BRCA-EU 6 11300146 11300146 single base substitution A G intron_variant BRCA-EU 6 11300152 11300152 single base substitution G C intron_variant BRCA-EU 6 11300507 11300507 single base substitution C G downstream_gene_variant BRCA-EU 6 11300507 11300507 single base substitution C G intron_variant BRCA-EU 6 11301682 11301682 single base substitution A T downstream_gene_variant BRCA-EU 6 11301682 11301682 single base substitution A T intron_variant BRCA-EU 6 11301735 11301735 single base substitution C T downstream_gene_variant BRCA-EU 6 11301735 11301735 single base substitution C T intron_variant BRCA-EU 6 11303137 11303137 single base substitution A G downstream_gene_variant BRCA-EU 6 11303137 11303137 single base substitution A G intron_variant BRCA-EU 6 11304365 11304399 deletion of <=200bp TCAAAAAGTGGGCAAAGGATATGAACAGACACTTC - downstream_gene_variant BRCA-EU 6 11304365 11304399 deletion of <=200bp TCAAAAAGTGGGCAAAGGATATGAACAGACACTTC - intron_variant BRCA-EU 6 11306296 11306296 single base substitution C T 5_prime_UTR_variant BRCA-EU 6 11306296 11306296 single base substitution C T exon_variant BRCA-EU 6 11306439 11306439 single base substitution G T intron_variant BRCA-EU 6 11306629 11306629 single base substitution C G intron_variant BRCA-EU 6 11307043 11307043 single base substitution A G intron_variant BRCA-EU 6 11307861 11307861 single base substitution G C intron_variant BRCA-EU 6 11307882 11307882 single base substitution C T intron_variant BRCA-EU 6 11308206 11308206 single base substitution G C intron_variant BRCA-EU 6 11308329 11308329 single base substitution G T intron_variant BRCA-EU 6 11309768 11309768 single base substitution C T intron_variant BRCA-EU 6 11309890 11309890 insertion of <=200bp - T intron_variant BRCA-EU 6 11310619 11310619 single base substitution C G intron_variant BRCA-EU 6 11310697 11310697 single base substitution C G intron_variant BRCA-EU 6 11311970 11311970 single base substitution G T intron_variant BRCA-EU 6 11312333 11312333 single base substitution C T intron_variant BRCA-EU 6 11313097 11313097 single base substitution G C intron_variant BRCA-EU 6 11314120 11314120 single base substitution T C intron_variant BRCA-EU 6 11314132 11314132 single base substitution T A intron_variant BRCA-EU 6 11314169 11314169 deletion of <=200bp T - intron_variant BRCA-EU 6 11316320 11316320 single base substitution C A intron_variant BRCA-EU 6 11316785 11316785 single base substitution C T intron_variant BRCA-EU 6 11316984 11316984 single base substitution C T intron_variant BRCA-EU 6 11317070 11317070 single base substitution C T intron_variant BRCA-EU 6 11317246 11317246 single base substitution A C intron_variant BRCA-EU 6 11318184 11318184 single base substitution G T intron_variant BRCA-EU 6 11319411 11319411 single base substitution G T intron_variant BRCA-EU 6 11320150 11320150 single base substitution G C intron_variant BRCA-EU 6 11321725 11321725 single base substitution T C intron_variant BRCA-EU 6 11321732 11321732 single base substitution C T intron_variant BRCA-EU 6 11322572 11322572 single base substitution A G intron_variant BRCA-EU 6 11324568 11324568 single base substitution C A downstream_gene_variant BRCA-EU 6 11324568 11324568 single base substitution C A intron_variant BRCA-EU 6 11325294 11325294 single base substitution C T downstream_gene_variant BRCA-EU 6 11325294 11325294 single base substitution C T intron_variant BRCA-EU 6 11325318 11325318 single base substitution G A downstream_gene_variant BRCA-EU 6 11325318 11325318 single base substitution G A intron_variant BRCA-EU 6 11325571 11325571 single base substitution G C downstream_gene_variant BRCA-EU 6 11325571 11325571 single base substitution G C intron_variant BRCA-EU 6 11325881 11325881 single base substitution G C downstream_gene_variant BRCA-EU 6 11325881 11325881 single base substitution G C intron_variant BRCA-EU 6 11325895 11325895 single base substitution G T downstream_gene_variant BRCA-EU 6 11325895 11325895 single base substitution G T intron_variant BRCA-EU 6 11325957 11325957 single base substitution G C downstream_gene_variant BRCA-EU 6 11325957 11325957 single base substitution G C intron_variant BRCA-EU 6 11326265 11326265 single base substitution G C downstream_gene_variant BRCA-EU 6 11326265 11326265 single base substitution G C intron_variant BRCA-EU 6 11328208 11328208 single base substitution A G downstream_gene_variant BRCA-EU 6 11328208 11328208 single base substitution A G intron_variant BRCA-EU 6 11328823 11328823 single base substitution C G exon_variant BRCA-EU 6 11328823 11328823 single base substitution C G intron_variant BRCA-EU 6 11330410 11330410 single base substitution G A intron_variant BRCA-EU 6 11330432 11330432 single base substitution C T intron_variant BRCA-EU 6 11330872 11330872 single base substitution G C intron_variant BRCA-EU 6 11331051 11331051 single base substitution C A intron_variant BRCA-EU 6 11331052 11331052 single base substitution A T intron_variant BRCA-EU 6 11331147 11331147 single base substitution T C intron_variant BRCA-EU 6 11331694 11331694 single base substitution C T intron_variant BRCA-EU 6 11332192 11332192 single base substitution C T intron_variant BRCA-EU 6 11332200 11332200 single base substitution A C intron_variant BRCA-EU 6 11335676 11335676 single base substitution C T intron_variant BRCA-EU 6 11336707 11336707 single base substitution C T intron_variant BRCA-EU 6 11337894 11337894 single base substitution C G intron_variant BRCA-EU 6 11338111 11338111 single base substitution A T intron_variant BRCA-EU 6 11338793 11338793 single base substitution A G intron_variant BRCA-EU 6 11339168 11339168 single base substitution A T intron_variant BRCA-EU 6 11339221 11339221 single base substitution C G intron_variant BRCA-EU 6 11341698 11341698 single base substitution G C intron_variant BRCA-EU 6 11342211 11342211 single base substitution A G intron_variant BRCA-EU 6 11343398 11343398 single base substitution C T intron_variant BRCA-EU 6 11343434 11343434 single base substitution G T intron_variant BRCA-EU 6 11344604 11344604 single base substitution C T intron_variant BRCA-EU 6 11345201 11345201 single base substitution G A intron_variant BRCA-EU 6 11345311 11345311 single base substitution G A intron_variant BRCA-EU 6 11346683 11346683 single base substitution G A intron_variant BRCA-EU 6 11348438 11348438 single base substitution C A downstream_gene_variant BRCA-EU 6 11348438 11348438 single base substitution C A intron_variant BRCA-EU 6 11348732 11348732 single base substitution G A downstream_gene_variant BRCA-EU 6 11348732 11348732 single base substitution G A intron_variant BRCA-EU 6 11349014 11349014 single base substitution G C downstream_gene_variant BRCA-EU 6 11349014 11349014 single base substitution G C intron_variant BRCA-EU 6 11349455 11349455 single base substitution C G downstream_gene_variant BRCA-EU 6 11349455 11349455 single base substitution C G intron_variant BRCA-EU 6 11351411 11351411 single base substitution A G downstream_gene_variant BRCA-EU 6 11351411 11351411 single base substitution A G intron_variant BRCA-EU 6 11351619 11351619 single base substitution C T downstream_gene_variant BRCA-EU 6 11351619 11351619 single base substitution C T intron_variant BRCA-EU 6 11353972 11353972 single base substitution C T intron_variant BRCA-EU 6 11354225 11354225 single base substitution A G intron_variant BRCA-EU 6 11354342 11354342 single base substitution C A intron_variant BRCA-EU 6 11355272 11355272 single base substitution T A intron_variant BRCA-EU 6 11355585 11355585 single base substitution A T intron_variant BRCA-EU 6 11356412 11356412 single base substitution C T intron_variant BRCA-EU 6 11358309 11358309 single base substitution C T intron_variant BRCA-EU 6 11360882 11360882 single base substitution C A intron_variant BRCA-EU 6 11362146 11362146 single base substitution G C intron_variant BRCA-EU 6 11362564 11362564 single base substitution T C intron_variant BRCA-EU 6 11362622 11362622 single base substitution C G intron_variant BRCA-EU 6 11363558 11363558 deletion of <=200bp T - intron_variant BRCA-EU 6 11365020 11365020 single base substitution A G intron_variant BRCA-EU 6 11365143 11365143 single base substitution C G intron_variant BRCA-EU 6 11365348 11365348 single base substitution C G intron_variant BRCA-EU 6 11365523 11365523 deletion of <=200bp A - intron_variant BRCA-EU 6 11366224 11366224 insertion of <=200bp - A intron_variant BRCA-EU 6 11368262 11368262 single base substitution G A intron_variant BRCA-EU 6 11369517 11369517 single base substitution C T intron_variant BRCA-EU 6 11370361 11370361 single base substitution C T intron_variant BRCA-EU 6 11370387 11370387 single base substitution C T intron_variant BRCA-EU 6 11371414 11371414 single base substitution C A intron_variant BRCA-EU 6 11371545 11371545 single base substitution G A intron_variant BRCA-EU 6 11371728 11371728 single base substitution C A intron_variant BRCA-EU 6 11371740 11371740 single base substitution A T intron_variant BRCA-EU 6 11372573 11372573 single base substitution T G intron_variant BRCA-EU 6 11372697 11372697 single base substitution G C intron_variant BRCA-EU 6 11373832 11373832 single base substitution C A intron_variant BRCA-EU 6 11373902 11373902 single base substitution T G intron_variant BRCA-EU 6 11374118 11374118 single base substitution A C intron_variant BRCA-EU 6 11374322 11374322 single base substitution C T intron_variant BRCA-EU 6 11374908 11374908 single base substitution G C intron_variant BRCA-EU 6 11374977 11374977 single base substitution G C intron_variant BRCA-EU 6 11375163 11375163 single base substitution C G intron_variant BRCA-EU 6 11375317 11375317 single base substitution A G intron_variant BRCA-EU 6 11375630 11375630 single base substitution G T intron_variant BRCA-EU 6 11376503 11376503 single base substitution G A intron_variant BRCA-EU 6 11376966 11376966 single base substitution C G intron_variant BRCA-EU 6 11378751 11378751 single base substitution T A intron_variant BRCA-EU 6 11379048 11379048 single base substitution C G intron_variant BRCA-EU 6 11379635 11379635 single base substitution A T intron_variant BRCA-EU 6 11379731 11379731 single base substitution G C intron_variant BRCA-EU 6 11379915 11379915 single base substitution C T intron_variant BRCA-EU 6 11380259 11380259 single base substitution C T intron_variant BRCA-EU 6 11380849 11380849 single base substitution C T intron_variant BRCA-EU 6 11380939 11380939 single base substitution A T intron_variant BRCA-EU 6 11381195 11381195 single base substitution C T intron_variant BRCA-EU 6 11381620 11381620 single base substitution C T intron_variant BRCA-EU 6 11381670 11381670 single base substitution T A intron_variant BRCA-EU 6 11383455 11383455 single base substitution G C upstream_gene_variant BRCA-EU 6 11385056 11385056 single base substitution A T upstream_gene_variant BRCA-EU 6 11385382 11385382 single base substitution G C upstream_gene_variant BRCA-EU 6 11385513 11385513 single base substitution A T upstream_gene_variant BRCA-EU 6 11385521 11385521 single base substitution G A upstream_gene_variant BRCA-EU 6 11386628 11386628 single base substitution C T upstream_gene_variant BRCA-EU 6 11386792 11386792 single base substitution A C upstream_gene_variant BRCA-EU 6 11387208 11387208 single base substitution G A upstream_gene_variant BRCA-FR 6 11179436 11179436 single base substitution G T downstream_gene_variant BRCA-FR 6 11184763 11184763 single base substitution C T 3_prime_UTR_variant BRCA-FR 6 11184763 11184763 single base substitution C T downstream_gene_variant BRCA-FR 6 11188903 11188903 single base substitution C G downstream_gene_variant BRCA-FR 6 11188903 11188903 single base substitution C G intron_variant BRCA-FR 6 11201305 11201305 single base substitution G T intron_variant BRCA-FR 6 11208255 11208255 single base substitution A T intron_variant BRCA-FR 6 11210102 11210102 single base substitution G A downstream_gene_variant BRCA-FR 6 11210102 11210102 single base substitution G A intron_variant BRCA-FR 6 11216176 11216176 single base substitution G C intron_variant BRCA-FR 6 11218313 11218313 single base substitution G C intron_variant BRCA-FR 6 11241015 11241015 single base substitution G T intron_variant BRCA-FR 6 11253187 11253187 single base substitution G C intron_variant BRCA-FR 6 11255324 11255324 single base substitution G A intron_variant BRCA-FR 6 11258566 11258566 single base substitution C A intron_variant BRCA-FR 6 11262279 11262279 single base substitution G A intron_variant BRCA-FR 6 11264660 11264660 single base substitution G C intron_variant BRCA-FR 6 11276747 11276747 single base substitution G T intron_variant BRCA-FR 6 11276973 11276973 single base substitution C T intron_variant BRCA-FR 6 11280334 11280334 single base substitution C G intron_variant BRCA-FR 6 11280997 11280997 single base substitution G A intron_variant BRCA-FR 6 11281120 11281120 single base substitution C A intron_variant BRCA-FR 6 11281150 11281150 single base substitution C G intron_variant BRCA-FR 6 11282312 11282312 single base substitution C T intron_variant BRCA-FR 6 11283883 11283883 single base substitution C G intron_variant BRCA-FR 6 11284014 11284014 single base substitution C G intron_variant BRCA-FR 6 11287091 11287091 single base substitution G C intron_variant BRCA-FR 6 11294395 11294395 single base substitution T C intron_variant BRCA-FR 6 11298329 11298329 single base substitution T C intron_variant BRCA-FR 6 11310697 11310697 single base substitution C G intron_variant BRCA-FR 6 11331147 11331147 single base substitution T C intron_variant BRCA-FR 6 11335926 11335926 single base substitution C A intron_variant BRCA-FR 6 11345702 11345702 single base substitution T A intron_variant BRCA-FR 6 11353972 11353972 single base substitution C T intron_variant BRCA-FR 6 11355637 11355637 single base substitution T C intron_variant BRCA-FR 6 11362622 11362622 single base substitution C G intron_variant BRCA-FR 6 11368262 11368262 single base substitution G A intron_variant BRCA-FR 6 11370285 11370285 single base substitution C G intron_variant BRCA-FR 6 11374118 11374118 single base substitution A C intron_variant BRCA-FR 6 11374849 11374849 single base substitution G A intron_variant BRCA-FR 6 11380259 11380259 single base substitution C T intron_variant BRCA-FR 6 11385382 11385382 single base substitution G C upstream_gene_variant BRCA-UK 6 11199012 11199012 single base substitution A T 3_prime_UTR_variant BRCA-UK 6 11199012 11199012 single base substitution A T intron_variant BRCA-UK 6 11202862 11202862 single base substitution C T intron_variant BRCA-UK 6 11208400 11208400 single base substitution G C intron_variant BRCA-UK 6 11212016 11212016 single base substitution G C downstream_gene_variant BRCA-UK 6 11212016 11212016 single base substitution G C intron_variant BRCA-UK 6 11218933 11218933 single base substitution G C intron_variant BRCA-UK 6 11242573 11242573 single base substitution G C intron_variant BRCA-UK 6 11288233 11288233 single base substitution G C intron_variant BRCA-UK 6 11289875 11289875 single base substitution G A intron_variant BRCA-UK 6 11300146 11300146 single base substitution A G intron_variant BRCA-UK 6 11307133 11307133 single base substitution C T intron_variant BRCA-UK 6 11308206 11308206 single base substitution G C intron_variant BRCA-UK 6 11356412 11356412 single base substitution C T intron_variant BRCA-UK 6 11358309 11358309 single base substitution C T intron_variant BRCA-UK 6 11379862 11379862 single base substitution A G intron_variant BRCA-UK 6 11380939 11380939 single base substitution A T intron_variant BRCA-US 6 11185522 11185522 single base substitution G T 3_prime_UTR_variant BRCA-US 6 11185522 11185522 single base substitution G T missense_variant A793E 2378C>A BRCA-US 6 11185572 11185572 single base substitution G A 3_prime_UTR_variant BRCA-US 6 11185572 11185572 single base substitution G A synonymous_variant V776V 2328C>T BRCA-US 6 11188468 11188468 single base substitution G A 3_prime_UTR_variant BRCA-US 6 11188468 11188468 single base substitution G A downstream_gene_variant BRCA-US 6 11188468 11188468 single base substitution G A stop_gained Q660* 1978C>T BRCA-US 6 11190312 11190312 single base substitution T A 3_prime_UTR_variant BRCA-US 6 11190312 11190312 single base substitution T A downstream_gene_variant BRCA-US 6 11190312 11190312 single base substitution T A missense_variant Q597L 1790A>T BRCA-US 6 11190371 11190371 single base substitution C T 3_prime_UTR_variant BRCA-US 6 11190371 11190371 single base substitution C T downstream_gene_variant BRCA-US 6 11190371 11190371 single base substitution C T synonymous_variant T577T 1731G>A BRCA-US 6 11190372 11190372 single base substitution G A 3_prime_UTR_variant BRCA-US 6 11190372 11190372 single base substitution G A downstream_gene_variant BRCA-US 6 11190372 11190372 single base substitution G A missense_variant T577M 1730C>T BRCA-US 6 11190431 11190431 single base substitution G A 3_prime_UTR_variant BRCA-US 6 11190431 11190431 single base substitution G A downstream_gene_variant BRCA-US 6 11190431 11190431 single base substitution G A synonymous_variant F557F 1671C>T BRCA-US 6 11190945 11190945 single base substitution G A 3_prime_UTR_variant BRCA-US 6 11190945 11190945 single base substitution G A downstream_gene_variant BRCA-US 6 11190945 11190945 single base substitution G A missense_variant S386F 1157C>T BRCA-US 6 11191022 11191022 single base substitution G C 3_prime_UTR_variant BRCA-US 6 11191022 11191022 single base substitution G C downstream_gene_variant BRCA-US 6 11191022 11191022 single base substitution G C missense_variant D360E 1080C>G BRCA-US 6 11191135 11191135 single base substitution C T 3_prime_UTR_variant BRCA-US 6 11191135 11191135 single base substitution C T exon_variant BRCA-US 6 11191135 11191135 single base substitution C T missense_variant V323I 967G>A BRCA-US 6 11191170 11191170 single base substitution C T 3_prime_UTR_variant BRCA-US 6 11191170 11191170 single base substitution C T exon_variant BRCA-US 6 11191170 11191170 single base substitution C T missense_variant G311D 932G>A BRCA-US 6 11191331 11191331 single base substitution C T 3_prime_UTR_variant BRCA-US 6 11191331 11191331 single base substitution C T exon_variant BRCA-US 6 11191331 11191331 single base substitution C T synonymous_variant P257P 771G>A BRCA-US 6 11193886 11193886 single base substitution C T 3_prime_UTR_variant BRCA-US 6 11193886 11193886 single base substitution C T downstream_gene_variant BRCA-US 6 11193886 11193886 single base substitution C T missense_variant E167K 499G>A BRCA-US 6 11193886 11193886 single base substitution C T upstream_gene_variant BRCA-US 6 11213899 11213899 single base substitution C T 3_prime_UTR_variant BRCA-US 6 11213899 11213899 single base substitution C T downstream_gene_variant BRCA-US 6 11213899 11213899 single base substitution C T missense_variant R19H 56G>A BRCA-US 6 11213899 11213899 single base substitution C T missense_variant R25H 74G>A BTCA-JP 6 11188599 11188599 single base substitution C A downstream_gene_variant BTCA-JP 6 11188599 11188599 single base substitution C A intron_variant BTCA-JP 6 11191092 11191092 single base substitution T G 3_prime_UTR_variant BTCA-JP 6 11191092 11191092 single base substitution T G exon_variant BTCA-JP 6 11191092 11191092 single base substitution T G missense_variant N337T 1010A>C BTCA-JP 6 11214704 11214704 single base substitution C T intron_variant BTCA-JP 6 11232853 11232853 single base substitution G C 5_prime_UTR_variant BTCA-JP 6 11232853 11232853 single base substitution G C intron_variant CESC-US 6 11213753 11213753 single base substitution G A 3_prime_UTR_variant CESC-US 6 11213753 11213753 single base substitution G A downstream_gene_variant CESC-US 6 11213753 11213753 single base substitution G A missense_variant H74Y 220C>T CLLE-ES 6 11205700 11205700 single base substitution A G intron_variant CLLE-ES 6 11215165 11215165 single base substitution T C intron_variant CLLE-ES 6 11242966 11242966 insertion of <=200bp - GGTG intron_variant CLLE-ES 6 11306822 11306822 single base substitution G A intron_variant CLLE-ES 6 11313628 11313628 single base substitution G A intron_variant CLLE-ES 6 11342810 11342810 single base substitution G A intron_variant CLLE-ES 6 11361859 11361859 single base substitution T G intron_variant COAD-US 6 11185533 11185533 single base substitution G A 3_prime_UTR_variant COAD-US 6 11185533 11185533 single base substitution G A synonymous_variant T789T 2367C>T COAD-US 6 11185548 11185548 single base substitution G A 3_prime_UTR_variant COAD-US 6 11185548 11185548 single base substitution G A synonymous_variant C784C 2352C>T COAD-US 6 11185671 11185671 single base substitution C T 3_prime_UTR_variant COAD-US 6 11185671 11185671 single base substitution C T synonymous_variant V743V 2229G>A COAD-US 6 11185845 11185845 single base substitution C T 3_prime_UTR_variant COAD-US 6 11185845 11185845 single base substitution C T synonymous_variant S685S 2055G>A COAD-US 6 11190701 11190701 single base substitution C A 3_prime_UTR_variant COAD-US 6 11190701 11190701 single base substitution C A downstream_gene_variant COAD-US 6 11190701 11190701 single base substitution C A missense_variant K467N 1401G>T COAD-US 6 11191046 11191046 single base substitution C T 3_prime_UTR_variant COAD-US 6 11191046 11191046 single base substitution C T downstream_gene_variant COAD-US 6 11191046 11191046 single base substitution C T synonymous_variant P352P 1056G>A COAD-US 6 11191368 11191368 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 6 11191368 11191368 deletion of <=200bp G - exon_variant COAD-US 6 11191368 11191368 deletion of <=200bp G - frameshift_variant P245 COAD-US 6 11191423 11191423 single base substitution G A 3_prime_UTR_variant COAD-US 6 11191423 11191423 single base substitution G A exon_variant COAD-US 6 11191423 11191423 single base substitution G A missense_variant P227S 679C>T COAD-US 6 11193860 11193860 single base substitution G A 3_prime_UTR_variant COAD-US 6 11193860 11193860 single base substitution G A downstream_gene_variant COAD-US 6 11193860 11193860 single base substitution G A synonymous_variant D175D 525C>T COAD-US 6 11193860 11193860 single base substitution G A upstream_gene_variant COAD-US 6 11213517 11213517 single base substitution T C 3_prime_UTR_variant COAD-US 6 11213517 11213517 single base substitution T C downstream_gene_variant COAD-US 6 11213517 11213517 single base substitution T C synonymous_variant K152K 456A>G COAD-US 6 11213542 11213542 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 6 11213542 11213542 deletion of <=200bp C - downstream_gene_variant COAD-US 6 11213542 11213542 deletion of <=200bp C - frameshift_variant G144 COAD-US 6 11213554 11213554 single base substitution C A 3_prime_UTR_variant COAD-US 6 11213554 11213554 single base substitution C A downstream_gene_variant COAD-US 6 11213554 11213554 single base substitution C A missense_variant R140I 419G>T COAD-US 6 11213832 11213832 single base substitution T C 3_prime_UTR_variant COAD-US 6 11213832 11213832 single base substitution T C downstream_gene_variant COAD-US 6 11213832 11213832 single base substitution T C synonymous_variant S47S 141A>G COAD-US 6 11213839 11213839 single base substitution A G 3_prime_UTR_variant COAD-US 6 11213839 11213839 single base substitution A G downstream_gene_variant COAD-US 6 11213839 11213839 single base substitution A G missense_variant L45P 134T>C COCA-CN 6 11183290 11183290 single base substitution C G downstream_gene_variant COCA-CN 6 11185649 11185649 single base substitution G T 3_prime_UTR_variant COCA-CN 6 11185649 11185649 single base substitution G T missense_variant L751I 2251C>A COCA-CN 6 11185911 11185911 single base substitution G T intron_variant COCA-CN 6 11190182 11190182 single base substitution G C downstream_gene_variant COCA-CN 6 11190182 11190182 single base substitution G C intron_variant COCA-CN 6 11190375 11190375 single base substitution G T 3_prime_UTR_variant COCA-CN 6 11190375 11190375 single base substitution G T downstream_gene_variant COCA-CN 6 11190375 11190375 single base substitution G T stop_gained S576* 1727C>A COCA-CN 6 11191047 11191047 single base substitution G A 3_prime_UTR_variant COCA-CN 6 11191047 11191047 single base substitution G A downstream_gene_variant COCA-CN 6 11191047 11191047 single base substitution G A missense_variant P352L 1055C>T COCA-CN 6 11192500 11192500 single base substitution A C intron_variant COCA-CN 6 11192839 11192839 single base substitution A T intron_variant COCA-CN 6 11192839 11192839 single base substitution A T upstream_gene_variant COCA-CN 6 11192840 11192840 single base substitution A T intron_variant COCA-CN 6 11192840 11192840 single base substitution A T upstream_gene_variant COCA-CN 6 11193789 11193789 single base substitution C T downstream_gene_variant COCA-CN 6 11193789 11193789 single base substitution C T intron_variant COCA-CN 6 11193789 11193789 single base substitution C T upstream_gene_variant COCA-CN 6 11194511 11194511 single base substitution C T downstream_gene_variant COCA-CN 6 11194511 11194511 single base substitution C T intron_variant COCA-CN 6 11194511 11194511 single base substitution C T upstream_gene_variant COCA-CN 6 11200610 11200610 single base substitution G A 3_prime_UTR_variant COCA-CN 6 11200610 11200610 single base substitution G A intron_variant COCA-CN 6 11211123 11211123 single base substitution G A downstream_gene_variant COCA-CN 6 11211123 11211123 single base substitution G A intron_variant COCA-CN 6 11213494 11213494 single base substitution T G downstream_gene_variant COCA-CN 6 11213494 11213494 single base substitution T G intron_variant COCA-CN 6 11215252 11215252 single base substitution C A intron_variant COCA-CN 6 11240496 11240496 single base substitution T G intron_variant COCA-CN 6 11245069 11245069 single base substitution A G downstream_gene_variant COCA-CN 6 11245069 11245069 single base substitution A G intron_variant COCA-CN 6 11256119 11256119 single base substitution G A intron_variant COCA-CN 6 11260194 11260194 single base substitution G C intron_variant COCA-CN 6 11295533 11295533 single base substitution C T intron_variant COCA-CN 6 11319806 11319806 single base substitution T C intron_variant COCA-CN 6 11319858 11319858 single base substitution A T intron_variant COCA-CN 6 11348586 11348586 single base substitution G T downstream_gene_variant COCA-CN 6 11348586 11348586 single base substitution G T intron_variant COCA-CN 6 11374299 11374299 single base substitution C A intron_variant EOPC-DE 6 11225830 11225830 single base substitution G A intron_variant EOPC-DE 6 11288421 11288421 single base substitution C G intron_variant EOPC-DE 6 11289843 11289843 single base substitution G A intron_variant EOPC-DE 6 11290269 11290269 single base substitution G A intron_variant EOPC-DE 6 11321390 11321390 single base substitution G A intron_variant EOPC-DE 6 11338846 11338846 single base substitution G A intron_variant EOPC-DE 6 11356849 11356849 single base substitution C T intron_variant EOPC-DE 6 11366333 11366333 single base substitution A G intron_variant ESAD-UK 6 11182200 11182203 deletion of <=200bp AACA - downstream_gene_variant ESAD-UK 6 11183408 11183408 deletion of <=200bp A - downstream_gene_variant ESAD-UK 6 11183408 11183408 insertion of <=200bp - A downstream_gene_variant ESAD-UK 6 11185643 11185643 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 11185643 11185643 single base substitution C T missense_variant A753T 2257G>A ESAD-UK 6 11185801 11185801 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 11185801 11185801 single base substitution A G missense_variant V700A 2099T>C ESAD-UK 6 11188736 11188736 single base substitution C T downstream_gene_variant ESAD-UK 6 11188736 11188736 single base substitution C T intron_variant ESAD-UK 6 11188775 11188775 single base substitution G C downstream_gene_variant ESAD-UK 6 11188775 11188775 single base substitution G C intron_variant ESAD-UK 6 11189013 11189015 deletion of <=200bp TCC - downstream_gene_variant ESAD-UK 6 11189013 11189015 deletion of <=200bp TCC - intron_variant ESAD-UK 6 11189293 11189293 single base substitution C A downstream_gene_variant ESAD-UK 6 11189293 11189293 single base substitution C A intron_variant ESAD-UK 6 11190331 11190331 single base substitution G C 3_prime_UTR_variant ESAD-UK 6 11190331 11190331 single base substitution G C downstream_gene_variant ESAD-UK 6 11190331 11190331 single base substitution G C missense_variant P591A 1771C>G ESAD-UK 6 11191691 11191691 single base substitution G A intron_variant ESAD-UK 6 11194988 11194988 single base substitution T C downstream_gene_variant ESAD-UK 6 11194988 11194988 single base substitution T C intron_variant ESAD-UK 6 11194988 11194988 single base substitution T C upstream_gene_variant ESAD-UK 6 11195484 11195484 single base substitution T C downstream_gene_variant ESAD-UK 6 11195484 11195484 single base substitution T C intron_variant ESAD-UK 6 11195484 11195484 single base substitution T C upstream_gene_variant ESAD-UK 6 11197953 11197953 single base substitution G T downstream_gene_variant ESAD-UK 6 11197953 11197953 single base substitution G T intron_variant ESAD-UK 6 11203117 11203117 single base substitution G T intron_variant ESAD-UK 6 11206423 11206423 single base substitution G A intron_variant ESAD-UK 6 11207080 11207080 deletion of <=200bp C - intron_variant ESAD-UK 6 11207082 11207082 single base substitution C G intron_variant ESAD-UK 6 11208184 11208184 single base substitution G A intron_variant ESAD-UK 6 11208673 11208673 single base substitution A G intron_variant ESAD-UK 6 11211053 11211055 deletion of <=200bp AAA - downstream_gene_variant ESAD-UK 6 11211053 11211055 deletion of <=200bp AAA - intron_variant ESAD-UK 6 11213469 11213469 single base substitution A G downstream_gene_variant ESAD-UK 6 11213469 11213469 single base substitution A G intron_variant ESAD-UK 6 11214318 11214318 single base substitution A C intron_variant ESAD-UK 6 11217672 11217672 single base substitution G A intron_variant ESAD-UK 6 11217882 11217882 single base substitution C T intron_variant ESAD-UK 6 11219003 11219003 single base substitution T G intron_variant ESAD-UK 6 11220890 11220890 single base substitution T G intron_variant ESAD-UK 6 11223641 11223641 single base substitution A T intron_variant ESAD-UK 6 11223974 11223974 single base substitution T G intron_variant ESAD-UK 6 11225552 11225552 single base substitution G A intron_variant ESAD-UK 6 11228073 11228073 single base substitution T C intron_variant ESAD-UK 6 11228731 11228731 single base substitution C T intron_variant ESAD-UK 6 11229293 11229293 single base substitution G C intron_variant ESAD-UK 6 11231115 11231115 single base substitution T C intron_variant ESAD-UK 6 11233728 11233728 single base substitution C T intron_variant ESAD-UK 6 11233728 11233728 single base substitution C T upstream_gene_variant ESAD-UK 6 11235135 11235135 single base substitution G C intron_variant ESAD-UK 6 11235135 11235135 single base substitution G C upstream_gene_variant ESAD-UK 6 11247599 11247599 single base substitution C T downstream_gene_variant ESAD-UK 6 11247599 11247599 single base substitution C T intron_variant ESAD-UK 6 11248280 11248280 single base substitution A T downstream_gene_variant ESAD-UK 6 11248280 11248280 single base substitution A T intron_variant ESAD-UK 6 11248471 11248471 single base substitution A G downstream_gene_variant ESAD-UK 6 11248471 11248471 single base substitution A G intron_variant ESAD-UK 6 11248635 11248635 single base substitution A C downstream_gene_variant ESAD-UK 6 11248635 11248635 single base substitution A C intron_variant ESAD-UK 6 11250309 11250309 single base substitution G T downstream_gene_variant ESAD-UK 6 11250309 11250309 single base substitution G T intron_variant ESAD-UK 6 11251706 11251706 single base substitution G A exon_variant ESAD-UK 6 11251706 11251706 single base substitution G A intron_variant ESAD-UK 6 11252174 11252174 single base substitution T G intron_variant ESAD-UK 6 11252175 11252175 insertion of <=200bp - G intron_variant ESAD-UK 6 11253892 11253892 single base substitution C T intron_variant ESAD-UK 6 11253895 11253895 single base substitution C T intron_variant ESAD-UK 6 11255312 11255312 single base substitution G A intron_variant ESAD-UK 6 11255612 11255612 single base substitution G T intron_variant ESAD-UK 6 11257319 11257319 single base substitution G A intron_variant ESAD-UK 6 11260323 11260323 insertion of <=200bp - A intron_variant ESAD-UK 6 11260495 11260495 single base substitution G A intron_variant ESAD-UK 6 11261107 11261107 single base substitution G A intron_variant ESAD-UK 6 11261762 11261762 single base substitution T A intron_variant ESAD-UK 6 11262489 11262489 insertion of <=200bp - A intron_variant ESAD-UK 6 11263533 11263533 single base substitution T C intron_variant ESAD-UK 6 11266844 11266844 single base substitution T G downstream_gene_variant ESAD-UK 6 11266844 11266844 single base substitution T G intron_variant ESAD-UK 6 11267567 11267567 single base substitution T A downstream_gene_variant ESAD-UK 6 11267567 11267567 single base substitution T A intron_variant ESAD-UK 6 11268412 11268412 single base substitution G A downstream_gene_variant ESAD-UK 6 11268412 11268412 single base substitution G A intron_variant ESAD-UK 6 11270228 11270228 single base substitution T C downstream_gene_variant ESAD-UK 6 11270228 11270228 single base substitution T C intron_variant ESAD-UK 6 11271926 11271926 single base substitution G T exon_variant ESAD-UK 6 11271926 11271926 single base substitution G T intron_variant ESAD-UK 6 11271927 11271927 single base substitution T A exon_variant ESAD-UK 6 11271927 11271927 single base substitution T A intron_variant ESAD-UK 6 11272094 11272094 single base substitution G A intron_variant ESAD-UK 6 11275432 11275432 single base substitution A G intron_variant ESAD-UK 6 11277697 11277698 deletion of <=200bp TG - intron_variant ESAD-UK 6 11280547 11280547 single base substitution T C intron_variant ESAD-UK 6 11282099 11282099 single base substitution G T intron_variant ESAD-UK 6 11283711 11283711 single base substitution G A intron_variant ESAD-UK 6 11283767 11283767 single base substitution G T intron_variant ESAD-UK 6 11285699 11285699 insertion of <=200bp - T intron_variant ESAD-UK 6 11287297 11287297 single base substitution T A intron_variant ESAD-UK 6 11289696 11289696 single base substitution T G intron_variant ESAD-UK 6 11289710 11289710 single base substitution G T intron_variant ESAD-UK 6 11290496 11290496 single base substitution C A intron_variant ESAD-UK 6 11295179 11295179 single base substitution G T intron_variant ESAD-UK 6 11296171 11296171 single base substitution G A intron_variant ESAD-UK 6 11297243 11297243 single base substitution T G intron_variant ESAD-UK 6 11299435 11299435 single base substitution A G intron_variant ESAD-UK 6 11302090 11302090 single base substitution T A downstream_gene_variant ESAD-UK 6 11302090 11302090 single base substitution T A intron_variant ESAD-UK 6 11303406 11303406 single base substitution G T downstream_gene_variant ESAD-UK 6 11303406 11303406 single base substitution G T intron_variant ESAD-UK 6 11305455 11305455 single base substitution G A downstream_gene_variant ESAD-UK 6 11305455 11305455 single base substitution G A exon_variant ESAD-UK 6 11305455 11305455 single base substitution G A intron_variant ESAD-UK 6 11306141 11306141 single base substitution G A exon_variant ESAD-UK 6 11306141 11306141 single base substitution G A intron_variant ESAD-UK 6 11314948 11314948 single base substitution G A intron_variant ESAD-UK 6 11315418 11315418 single base substitution T G intron_variant ESAD-UK 6 11318269 11318269 single base substitution T G intron_variant ESAD-UK 6 11319978 11319989 deletion of <=200bp CACACTAACATG - intron_variant ESAD-UK 6 11320414 11320414 single base substitution G A intron_variant ESAD-UK 6 11321237 11321237 single base substitution G A intron_variant ESAD-UK 6 11321341 11321341 single base substitution T G intron_variant ESAD-UK 6 11324111 11324111 single base substitution G A downstream_gene_variant ESAD-UK 6 11324111 11324111 single base substitution G A intron_variant ESAD-UK 6 11324236 11324236 single base substitution G A downstream_gene_variant ESAD-UK 6 11324236 11324236 single base substitution G A intron_variant ESAD-UK 6 11327088 11327088 single base substitution G A downstream_gene_variant ESAD-UK 6 11327088 11327088 single base substitution G A intron_variant ESAD-UK 6 11327122 11327122 single base substitution A G downstream_gene_variant ESAD-UK 6 11327122 11327122 single base substitution A G intron_variant ESAD-UK 6 11329994 11329994 insertion of <=200bp - G intron_variant ESAD-UK 6 11330715 11330715 deletion of <=200bp G - intron_variant ESAD-UK 6 11332194 11332194 single base substitution G A intron_variant ESAD-UK 6 11334514 11334514 single base substitution C T intron_variant ESAD-UK 6 11334651 11334651 single base substitution G A intron_variant ESAD-UK 6 11335739 11335739 single base substitution G A intron_variant ESAD-UK 6 11336495 11336495 single base substitution G A intron_variant ESAD-UK 6 11337595 11337595 single base substitution C T intron_variant ESAD-UK 6 11339792 11339792 single base substitution C G intron_variant ESAD-UK 6 11340494 11340494 single base substitution A G intron_variant ESAD-UK 6 11346601 11346601 single base substitution G A intron_variant ESAD-UK 6 11347527 11347527 single base substitution C A downstream_gene_variant ESAD-UK 6 11347527 11347527 single base substitution C A intron_variant ESAD-UK 6 11354405 11354405 single base substitution A C intron_variant ESAD-UK 6 11354870 11354870 single base substitution C A intron_variant ESAD-UK 6 11355308 11355308 single base substitution C T intron_variant ESAD-UK 6 11355636 11355636 single base substitution G C intron_variant ESAD-UK 6 11356620 11356620 single base substitution T G intron_variant ESAD-UK 6 11363558 11363558 deletion of <=200bp T - intron_variant ESAD-UK 6 11363558 11363558 insertion of <=200bp - T intron_variant ESAD-UK 6 11366251 11366251 single base substitution G A intron_variant ESAD-UK 6 11367039 11367039 single base substitution C T intron_variant ESAD-UK 6 11368767 11368767 single base substitution C A intron_variant ESAD-UK 6 11372074 11372074 single base substitution A T intron_variant ESAD-UK 6 11373143 11373143 insertion of <=200bp - T intron_variant ESAD-UK 6 11373511 11373511 single base substitution C A intron_variant ESAD-UK 6 11375133 11375133 deletion of <=200bp T - intron_variant ESAD-UK 6 11379197 11379197 single base substitution G A intron_variant ESAD-UK 6 11379595 11379595 single base substitution C T intron_variant ESAD-UK 6 11380539 11380539 single base substitution G A intron_variant ESAD-UK 6 11383842 11383842 single base substitution G T upstream_gene_variant ESAD-UK 6 11383943 11383943 single base substitution A G upstream_gene_variant ESAD-UK 6 11384653 11384653 single base substitution A T upstream_gene_variant ESAD-UK 6 11385341 11385341 single base substitution G A upstream_gene_variant ESCA-CN 6 11185727 11185727 single base substitution C T 3_prime_UTR_variant ESCA-CN 6 11185727 11185727 single base substitution C T missense_variant A725T 2173G>A ESCA-CN 6 11193672 11193672 single base substitution T C downstream_gene_variant ESCA-CN 6 11193672 11193672 single base substitution T C intron_variant ESCA-CN 6 11193672 11193672 single base substitution T C upstream_gene_variant ESCA-CN 6 11213797 11213797 single base substitution C T 3_prime_UTR_variant ESCA-CN 6 11213797 11213797 single base substitution C T downstream_gene_variant ESCA-CN 6 11213797 11213797 single base substitution C T missense_variant R59Q 176G>A KIRC-US 6 11185683 11185683 insertion of <=200bp - G 3_prime_UTR_variant KIRC-US 6 11185683 11185683 insertion of <=200bp - G frameshift_variant P739P? KIRC-US 6 11213548 11213548 single base substitution A G 3_prime_UTR_variant KIRC-US 6 11213548 11213548 single base substitution A G downstream_gene_variant KIRC-US 6 11213548 11213548 single base substitution A G missense_variant I142T 425T>C LAML-KR 6 11188516 11188516 single base substitution G A 3_prime_UTR_variant LAML-KR 6 11188516 11188516 single base substitution G A downstream_gene_variant LAML-KR 6 11188516 11188516 single base substitution G A stop_gained Q644* 1930C>T LAML-KR 6 11306454 11306454 single base substitution A T intron_variant LAML-KR 6 11384818 11384818 single base substitution A G upstream_gene_variant LICA-FR 6 11188586 11188586 single base substitution T A downstream_gene_variant LICA-FR 6 11188586 11188586 single base substitution T A intron_variant LICA-FR 6 11191143 11191143 single base substitution G A 3_prime_UTR_variant LICA-FR 6 11191143 11191143 single base substitution G A exon_variant LICA-FR 6 11191143 11191143 single base substitution G A missense_variant P320L 959C>T LICA-FR 6 11208411 11208411 deletion of <=200bp A - intron_variant LICA-FR 6 11214281 11214281 single base substitution C A intron_variant LICA-FR 6 11239042 11239042 single base substitution C G intron_variant LICA-FR 6 11245118 11245118 single base substitution A T downstream_gene_variant LICA-FR 6 11245118 11245118 single base substitution A T intron_variant LICA-FR 6 11260169 11260169 insertion of <=200bp - ACACACACACACACACAC intron_variant LICA-FR 6 11278780 11278780 single base substitution G A intron_variant LICA-FR 6 11357335 11357335 single base substitution A G intron_variant LINC-JP 6 11179478 11179478 single base substitution C T downstream_gene_variant LINC-JP 6 11188366 11188366 single base substitution A G downstream_gene_variant LINC-JP 6 11188366 11188366 single base substitution A G intron_variant LINC-JP 6 11188475 11188475 single base substitution G T 3_prime_UTR_variant LINC-JP 6 11188475 11188475 single base substitution G T downstream_gene_variant LINC-JP 6 11188475 11188475 single base substitution G T missense_variant N657K 1971C>A LINC-JP 6 11195692 11195692 deletion of <=200bp T - downstream_gene_variant LINC-JP 6 11195692 11195692 deletion of <=200bp T - intron_variant LINC-JP 6 11195692 11195692 deletion of <=200bp T - upstream_gene_variant LINC-JP 6 11209851 11209851 single base substitution T C downstream_gene_variant LINC-JP 6 11209851 11209851 single base substitution T C intron_variant LINC-JP 6 11224087 11224087 deletion of <=200bp A - intron_variant LINC-JP 6 11228805 11228805 single base substitution C T intron_variant LINC-JP 6 11258750 11258750 deletion of <=200bp T - intron_variant LINC-JP 6 11269260 11269260 single base substitution A G downstream_gene_variant LINC-JP 6 11269260 11269260 single base substitution A G intron_variant LINC-JP 6 11274896 11274896 single base substitution C A intron_variant LINC-JP 6 11285426 11285426 single base substitution C G intron_variant LINC-JP 6 11295725 11295725 single base substitution T G intron_variant LINC-JP 6 11336845 11336845 single base substitution G A intron_variant LINC-JP 6 11352137 11352137 single base substitution A G downstream_gene_variant LINC-JP 6 11352137 11352137 single base substitution A G intron_variant LINC-JP 6 11360773 11360773 single base substitution T C intron_variant LINC-JP 6 11368119 11368119 single base substitution G C intron_variant LINC-JP 6 11372068 11372068 single base substitution C T intron_variant LINC-JP 6 11380431 11380431 single base substitution G T intron_variant LIRI-JP 6 11178796 11178796 single base substitution G A downstream_gene_variant LIRI-JP 6 11180235 11180235 single base substitution A G downstream_gene_variant LIRI-JP 6 11180643 11180643 single base substitution A T downstream_gene_variant LIRI-JP 6 11182883 11182883 single base substitution G A downstream_gene_variant LIRI-JP 6 11186072 11186072 single base substitution T C intron_variant LIRI-JP 6 11186093 11186093 single base substitution T C downstream_gene_variant LIRI-JP 6 11186093 11186093 single base substitution T C intron_variant LIRI-JP 6 11186746 11186746 single base substitution T G downstream_gene_variant LIRI-JP 6 11186746 11186746 single base substitution T G intron_variant LIRI-JP 6 11188759 11188759 single base substitution T C downstream_gene_variant LIRI-JP 6 11188759 11188759 single base substitution T C intron_variant LIRI-JP 6 11189330 11189330 single base substitution T A downstream_gene_variant LIRI-JP 6 11189330 11189330 single base substitution T A intron_variant LIRI-JP 6 11191369 11191369 single base substitution G C 3_prime_UTR_variant LIRI-JP 6 11191369 11191369 single base substitution G C exon_variant LIRI-JP 6 11191369 11191369 single base substitution G C missense_variant P245A 733C>G LIRI-JP 6 11191959 11191959 single base substitution A G intron_variant LIRI-JP 6 11195925 11195925 insertion of <=200bp - T downstream_gene_variant LIRI-JP 6 11195925 11195925 insertion of <=200bp - T intron_variant LIRI-JP 6 11195925 11195925 insertion of <=200bp - T upstream_gene_variant LIRI-JP 6 11196475 11196475 single base substitution T G downstream_gene_variant LIRI-JP 6 11196475 11196475 single base substitution T G intron_variant LIRI-JP 6 11196475 11196475 single base substitution T G upstream_gene_variant LIRI-JP 6 11200574 11200574 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 11200574 11200574 single base substitution A G intron_variant LIRI-JP 6 11201720 11201720 single base substitution A G intron_variant LIRI-JP 6 11202617 11202617 single base substitution G T intron_variant LIRI-JP 6 11203599 11203599 single base substitution G A intron_variant LIRI-JP 6 11203685 11203685 single base substitution C A intron_variant LIRI-JP 6 11205051 11205051 single base substitution T C intron_variant LIRI-JP 6 11206552 11206552 single base substitution G A intron_variant LIRI-JP 6 11207543 11207543 single base substitution T A intron_variant LIRI-JP 6 11209634 11209634 single base substitution C A downstream_gene_variant LIRI-JP 6 11209634 11209634 single base substitution C A intron_variant LIRI-JP 6 11213110 11213110 single base substitution A G downstream_gene_variant LIRI-JP 6 11213110 11213110 single base substitution A G intron_variant LIRI-JP 6 11214552 11214552 single base substitution T C intron_variant LIRI-JP 6 11217652 11217652 single base substitution T A intron_variant LIRI-JP 6 11218925 11218925 single base substitution T C intron_variant LIRI-JP 6 11219197 11219197 single base substitution A G intron_variant LIRI-JP 6 11219289 11219289 single base substitution C A intron_variant LIRI-JP 6 11220865 11220865 single base substitution T C intron_variant LIRI-JP 6 11222445 11222445 single base substitution T C intron_variant LIRI-JP 6 11222618 11222618 single base substitution A G intron_variant LIRI-JP 6 11225573 11225573 single base substitution A G intron_variant LIRI-JP 6 11227603 11227603 single base substitution T G intron_variant LIRI-JP 6 11228038 11228038 insertion of <=200bp - GAGGT intron_variant LIRI-JP 6 11228169 11228169 single base substitution G A intron_variant LIRI-JP 6 11232683 11232683 single base substitution C T intron_variant LIRI-JP 6 11233074 11233074 single base substitution T C intron_variant LIRI-JP 6 11233074 11233074 single base substitution T C upstream_gene_variant LIRI-JP 6 11234412 11234412 single base substitution T C intron_variant LIRI-JP 6 11234412 11234412 single base substitution T C upstream_gene_variant LIRI-JP 6 11236511 11236511 single base substitution C G intron_variant LIRI-JP 6 11236511 11236511 single base substitution C G upstream_gene_variant LIRI-JP 6 11238305 11238305 deletion of <=200bp G - intron_variant LIRI-JP 6 11240795 11240795 single base substitution A G intron_variant LIRI-JP 6 11243104 11243104 single base substitution C A intron_variant LIRI-JP 6 11246486 11246486 insertion of <=200bp - C downstream_gene_variant LIRI-JP 6 11246486 11246486 insertion of <=200bp - C intron_variant LIRI-JP 6 11247517 11247517 single base substitution A T downstream_gene_variant LIRI-JP 6 11247517 11247517 single base substitution A T intron_variant LIRI-JP 6 11249268 11249268 single base substitution G A downstream_gene_variant LIRI-JP 6 11249268 11249268 single base substitution G A exon_variant LIRI-JP 6 11249268 11249268 single base substitution G A intron_variant LIRI-JP 6 11249784 11249784 single base substitution T C downstream_gene_variant LIRI-JP 6 11249784 11249784 single base substitution T C intron_variant LIRI-JP 6 11253065 11253065 single base substitution C G intron_variant LIRI-JP 6 11253200 11253200 single base substitution C T intron_variant LIRI-JP 6 11259058 11259058 single base substitution T A intron_variant LIRI-JP 6 11265439 11265439 single base substitution G C intron_variant LIRI-JP 6 11268459 11268459 single base substitution G T downstream_gene_variant LIRI-JP 6 11268459 11268459 single base substitution G T intron_variant LIRI-JP 6 11269104 11269104 single base substitution A G downstream_gene_variant LIRI-JP 6 11269104 11269104 single base substitution A G intron_variant LIRI-JP 6 11271478 11271478 single base substitution C T downstream_gene_variant LIRI-JP 6 11271478 11271478 single base substitution C T intron_variant LIRI-JP 6 11272327 11272327 single base substitution A T intron_variant LIRI-JP 6 11272779 11272779 single base substitution C T intron_variant LIRI-JP 6 11272964 11272964 single base substitution A G intron_variant LIRI-JP 6 11274449 11274449 single base substitution G C intron_variant LIRI-JP 6 11275718 11275718 single base substitution A G intron_variant LIRI-JP 6 11275941 11275941 single base substitution A G intron_variant LIRI-JP 6 11275941 11275941 single base substitution A T intron_variant LIRI-JP 6 11276181 11276181 single base substitution C T intron_variant LIRI-JP 6 11276505 11276505 single base substitution A G intron_variant LIRI-JP 6 11279498 11279498 single base substitution C T intron_variant LIRI-JP 6 11281054 11281054 single base substitution G A intron_variant LIRI-JP 6 11283427 11283427 single base substitution C A intron_variant LIRI-JP 6 11284916 11284916 single base substitution C T intron_variant LIRI-JP 6 11284951 11284951 single base substitution A G intron_variant LIRI-JP 6 11287713 11287713 single base substitution T C intron_variant LIRI-JP 6 11287879 11287879 single base substitution A G intron_variant LIRI-JP 6 11291943 11291943 single base substitution T C intron_variant LIRI-JP 6 11292169 11292169 single base substitution G A intron_variant LIRI-JP 6 11294463 11294463 single base substitution T C intron_variant LIRI-JP 6 11295934 11295934 single base substitution G A intron_variant LIRI-JP 6 11296632 11296632 single base substitution C G intron_variant LIRI-JP 6 11296751 11296751 single base substitution A G intron_variant LIRI-JP 6 11296987 11296987 single base substitution A G intron_variant LIRI-JP 6 11300043 11300043 single base substitution C T intron_variant LIRI-JP 6 11301795 11301795 single base substitution A C downstream_gene_variant LIRI-JP 6 11301795 11301795 single base substitution A C intron_variant LIRI-JP 6 11302603 11302603 single base substitution A G downstream_gene_variant LIRI-JP 6 11302603 11302603 single base substitution A G intron_variant LIRI-JP 6 11302856 11302856 single base substitution A T downstream_gene_variant LIRI-JP 6 11302856 11302856 single base substitution A T intron_variant LIRI-JP 6 11303850 11303850 single base substitution G T downstream_gene_variant LIRI-JP 6 11303850 11303850 single base substitution G T intron_variant LIRI-JP 6 11305934 11305934 single base substitution G T downstream_gene_variant LIRI-JP 6 11305934 11305934 single base substitution G T intron_variant LIRI-JP 6 11310220 11310220 single base substitution C G intron_variant LIRI-JP 6 11312089 11312089 single base substitution C G intron_variant LIRI-JP 6 11312409 11312409 single base substitution C T intron_variant LIRI-JP 6 11312715 11312715 single base substitution A G intron_variant LIRI-JP 6 11314364 11314364 single base substitution A G intron_variant LIRI-JP 6 11316171 11316171 single base substitution A G intron_variant LIRI-JP 6 11316558 11316558 insertion of <=200bp - A intron_variant LIRI-JP 6 11318645 11318645 single base substitution T A intron_variant LIRI-JP 6 11321868 11321868 single base substitution A G intron_variant LIRI-JP 6 11322223 11322223 single base substitution G T intron_variant LIRI-JP 6 11328062 11328062 single base substitution T C downstream_gene_variant LIRI-JP 6 11328062 11328062 single base substitution T C intron_variant LIRI-JP 6 11328464 11328464 single base substitution C T downstream_gene_variant LIRI-JP 6 11328464 11328464 single base substitution C T intron_variant LIRI-JP 6 11328927 11328927 single base substitution T G exon_variant LIRI-JP 6 11328927 11328927 single base substitution T G intron_variant LIRI-JP 6 11329007 11329007 single base substitution A C exon_variant LIRI-JP 6 11329007 11329007 single base substitution A C intron_variant LIRI-JP 6 11330544 11330544 single base substitution G A intron_variant LIRI-JP 6 11333857 11333857 single base substitution A G intron_variant LIRI-JP 6 11335376 11335376 single base substitution T C intron_variant LIRI-JP 6 11336060 11336060 single base substitution A G intron_variant LIRI-JP 6 11341245 11341245 single base substitution C T intron_variant LIRI-JP 6 11342581 11342581 single base substitution A G intron_variant LIRI-JP 6 11345769 11345769 single base substitution G T intron_variant LIRI-JP 6 11345960 11345960 single base substitution T C intron_variant LIRI-JP 6 11346113 11346113 single base substitution G A intron_variant LIRI-JP 6 11347682 11347682 single base substitution A G downstream_gene_variant LIRI-JP 6 11347682 11347682 single base substitution A G intron_variant LIRI-JP 6 11348847 11348847 single base substitution T A downstream_gene_variant LIRI-JP 6 11348847 11348847 single base substitution T A intron_variant LIRI-JP 6 11349657 11349657 single base substitution T C downstream_gene_variant LIRI-JP 6 11349657 11349657 single base substitution T C intron_variant LIRI-JP 6 11350196 11350196 single base substitution G A downstream_gene_variant LIRI-JP 6 11350196 11350196 single base substitution G A intron_variant LIRI-JP 6 11350771 11350771 single base substitution T C downstream_gene_variant LIRI-JP 6 11350771 11350771 single base substitution T C intron_variant LIRI-JP 6 11354307 11354307 single base substitution T C intron_variant LIRI-JP 6 11355126 11355126 single base substitution G A intron_variant LIRI-JP 6 11358236 11358236 single base substitution A G intron_variant LIRI-JP 6 11358264 11358264 single base substitution C T intron_variant LIRI-JP 6 11358337 11358337 single base substitution C G intron_variant LIRI-JP 6 11358739 11358739 single base substitution A G intron_variant LIRI-JP 6 11361250 11361250 single base substitution G A intron_variant LIRI-JP 6 11364975 11364975 single base substitution T C intron_variant LIRI-JP 6 11367335 11367335 single base substitution G T intron_variant LIRI-JP 6 11367908 11367908 single base substitution C T intron_variant LIRI-JP 6 11368519 11368519 single base substitution A G intron_variant LIRI-JP 6 11369442 11369442 single base substitution T C intron_variant LIRI-JP 6 11370683 11370683 single base substitution C T intron_variant LIRI-JP 6 11374232 11374232 single base substitution G C intron_variant LIRI-JP 6 11376267 11376267 single base substitution C A intron_variant LIRI-JP 6 11376344 11376344 single base substitution A G intron_variant LIRI-JP 6 11376931 11376931 single base substitution T G intron_variant LIRI-JP 6 11377981 11377981 single base substitution A T intron_variant LIRI-JP 6 11381683 11381683 single base substitution A G intron_variant LIRI-JP 6 11382676 11382676 single base substitution G T upstream_gene_variant LIRI-JP 6 11385799 11385799 single base substitution G C upstream_gene_variant LIRI-JP 6 11386151 11386151 single base substitution A G upstream_gene_variant LIRI-JP 6 11387078 11387078 single base substitution C A upstream_gene_variant LUSC-KR 6 11180046 11180046 single base substitution A T downstream_gene_variant LUSC-KR 6 11181735 11181735 single base substitution T C downstream_gene_variant LUSC-KR 6 11182825 11182825 single base substitution G C downstream_gene_variant LUSC-KR 6 11183903 11183903 single base substitution T A 3_prime_UTR_variant LUSC-KR 6 11183903 11183903 single base substitution T A downstream_gene_variant LUSC-KR 6 11183912 11183912 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 11183912 11183912 single base substitution C T downstream_gene_variant LUSC-KR 6 11193210 11193210 single base substitution C G intron_variant LUSC-KR 6 11193210 11193210 single base substitution C G upstream_gene_variant LUSC-KR 6 11193409 11193409 single base substitution G A intron_variant LUSC-KR 6 11193409 11193409 single base substitution G A upstream_gene_variant LUSC-KR 6 11200313 11200313 single base substitution G T 3_prime_UTR_variant LUSC-KR 6 11200313 11200313 single base substitution G T intron_variant LUSC-KR 6 11207057 11207057 single base substitution C T intron_variant LUSC-KR 6 11209875 11209875 single base substitution G A downstream_gene_variant LUSC-KR 6 11209875 11209875 single base substitution G A intron_variant LUSC-KR 6 11214815 11214815 single base substitution T A intron_variant LUSC-KR 6 11218025 11218025 single base substitution C G intron_variant LUSC-KR 6 11223201 11223201 single base substitution C G intron_variant LUSC-KR 6 11223367 11223367 single base substitution C A intron_variant LUSC-KR 6 11228488 11228488 single base substitution G C intron_variant LUSC-KR 6 11228561 11228561 single base substitution C G intron_variant LUSC-KR 6 11230543 11230543 single base substitution A C intron_variant LUSC-KR 6 11239038 11239038 single base substitution C G intron_variant LUSC-KR 6 11248362 11248362 single base substitution A G downstream_gene_variant LUSC-KR 6 11248362 11248362 single base substitution A G intron_variant LUSC-KR 6 11248399 11248399 single base substitution A G downstream_gene_variant LUSC-KR 6 11248399 11248399 single base substitution A G intron_variant LUSC-KR 6 11257083 11257083 single base substitution G A intron_variant LUSC-KR 6 11264270 11264270 single base substitution G T intron_variant LUSC-KR 6 11264446 11264446 single base substitution G T intron_variant LUSC-KR 6 11275162 11275162 single base substitution C G intron_variant LUSC-KR 6 11276081 11276081 single base substitution C G intron_variant LUSC-KR 6 11289153 11289153 single base substitution G C intron_variant LUSC-KR 6 11291789 11291789 single base substitution G T intron_variant LUSC-KR 6 11292448 11292448 single base substitution G A intron_variant LUSC-KR 6 11292615 11292615 single base substitution G C intron_variant LUSC-KR 6 11305135 11305135 single base substitution C A downstream_gene_variant LUSC-KR 6 11305135 11305135 single base substitution C A intron_variant LUSC-KR 6 11309507 11309507 single base substitution A G intron_variant LUSC-KR 6 11310233 11310233 single base substitution T C intron_variant LUSC-KR 6 11312207 11312207 single base substitution C T intron_variant LUSC-KR 6 11314604 11314604 single base substitution G A intron_variant LUSC-KR 6 11314969 11314969 single base substitution G C intron_variant LUSC-KR 6 11320382 11320382 single base substitution G A intron_variant LUSC-KR 6 11321311 11321311 single base substitution T G intron_variant LUSC-KR 6 11321341 11321341 single base substitution T G intron_variant LUSC-KR 6 11325714 11325714 single base substitution G T downstream_gene_variant LUSC-KR 6 11325714 11325714 single base substitution G T intron_variant LUSC-KR 6 11340962 11340962 single base substitution G T intron_variant LUSC-KR 6 11345781 11345781 single base substitution G T intron_variant LUSC-KR 6 11368525 11368525 single base substitution T A intron_variant LUSC-KR 6 11373899 11373899 single base substitution T C intron_variant LUSC-KR 6 11374299 11374299 single base substitution C A intron_variant LUSC-KR 6 11382905 11382905 single base substitution G T upstream_gene_variant LUSC-KR 6 11383425 11383425 single base substitution G A upstream_gene_variant LUSC-US 6 11185539 11185539 single base substitution G C 3_prime_UTR_variant LUSC-US 6 11185539 11185539 single base substitution G C synonymous_variant L787L 2361C>G LUSC-US 6 11185599 11185599 single base substitution C T 3_prime_UTR_variant LUSC-US 6 11185599 11185599 single base substitution C T synonymous_variant V767V 2301G>A LUSC-US 6 11190369 11190369 single base substitution T A 3_prime_UTR_variant LUSC-US 6 11190369 11190369 single base substitution T A downstream_gene_variant LUSC-US 6 11190369 11190369 single base substitution T A missense_variant E578V 1733A>T LUSC-US 6 11190802 11190802 single base substitution C A 3_prime_UTR_variant LUSC-US 6 11190802 11190802 single base substitution C A downstream_gene_variant LUSC-US 6 11190802 11190802 single base substitution C A missense_variant D434Y 1300G>T MALY-DE 6 11187403 11187403 single base substitution A C downstream_gene_variant MALY-DE 6 11187403 11187403 single base substitution A C intron_variant MALY-DE 6 11188028 11188028 single base substitution A C downstream_gene_variant MALY-DE 6 11188028 11188028 single base substitution A C intron_variant MALY-DE 6 11193553 11193553 single base substitution A G downstream_gene_variant MALY-DE 6 11193553 11193553 single base substitution A G intron_variant MALY-DE 6 11193553 11193553 single base substitution A G upstream_gene_variant MALY-DE 6 11193883 11193883 single base substitution A T 3_prime_UTR_variant MALY-DE 6 11193883 11193883 single base substitution A T downstream_gene_variant MALY-DE 6 11193883 11193883 single base substitution A T missense_variant Y168N 502T>A MALY-DE 6 11193883 11193883 single base substitution A T upstream_gene_variant MALY-DE 6 11194968 11194968 single base substitution T C downstream_gene_variant MALY-DE 6 11194968 11194968 single base substitution T C intron_variant MALY-DE 6 11194968 11194968 single base substitution T C upstream_gene_variant MALY-DE 6 11209735 11209735 single base substitution G C downstream_gene_variant MALY-DE 6 11209735 11209735 single base substitution G C intron_variant MALY-DE 6 11212803 11212803 single base substitution T C downstream_gene_variant MALY-DE 6 11212803 11212803 single base substitution T C intron_variant MALY-DE 6 11219962 11219962 single base substitution A G intron_variant MALY-DE 6 11221611 11221611 single base substitution G A intron_variant MALY-DE 6 11224663 11224663 single base substitution A C intron_variant MALY-DE 6 11237060 11237060 single base substitution T C intron_variant MALY-DE 6 11237060 11237060 single base substitution T C upstream_gene_variant MALY-DE 6 11252194 11252194 single base substitution T C intron_variant MALY-DE 6 11252613 11252613 single base substitution C T intron_variant MALY-DE 6 11268976 11268979 deletion of <=200bp ACAG - downstream_gene_variant MALY-DE 6 11268976 11268979 deletion of <=200bp ACAG - intron_variant MALY-DE 6 11269019 11269019 single base substitution A G downstream_gene_variant MALY-DE 6 11269019 11269019 single base substitution A G intron_variant MALY-DE 6 11275779 11275780 deletion of <=200bp AC - intron_variant MALY-DE 6 11287758 11287759 deletion of <=200bp CA - intron_variant MALY-DE 6 11291022 11291022 single base substitution A G intron_variant MALY-DE 6 11297432 11297432 single base substitution G C intron_variant MALY-DE 6 11298162 11298162 single base substitution A G intron_variant MALY-DE 6 11301330 11301330 single base substitution T A downstream_gene_variant MALY-DE 6 11301330 11301330 single base substitution T A intron_variant MALY-DE 6 11303579 11303579 single base substitution A G downstream_gene_variant MALY-DE 6 11303579 11303579 single base substitution A G intron_variant MALY-DE 6 11304977 11304977 single base substitution G A downstream_gene_variant MALY-DE 6 11304977 11304977 single base substitution G A intron_variant MALY-DE 6 11311738 11311738 single base substitution G T intron_variant MALY-DE 6 11318586 11318586 insertion of <=200bp - G intron_variant MALY-DE 6 11319412 11319412 single base substitution A G intron_variant MALY-DE 6 11326417 11326417 single base substitution C A downstream_gene_variant MALY-DE 6 11326417 11326417 single base substitution C A intron_variant MALY-DE 6 11332432 11332432 single base substitution A G intron_variant MALY-DE 6 11334303 11334303 single base substitution A C intron_variant MALY-DE 6 11334329 11334329 single base substitution A C intron_variant MALY-DE 6 11339255 11339255 single base substitution A C intron_variant MALY-DE 6 11342486 11342486 single base substitution G A intron_variant MALY-DE 6 11348542 11348542 single base substitution T C downstream_gene_variant MALY-DE 6 11348542 11348542 single base substitution T C intron_variant MALY-DE 6 11372437 11372437 single base substitution C T intron_variant MALY-DE 6 11374299 11374299 single base substitution C A intron_variant MALY-DE 6 11379685 11379685 single base substitution A G intron_variant MALY-DE 6 11379707 11379707 single base substitution G A intron_variant MELA-AU 6 11178565 11178565 single base substitution G A downstream_gene_variant MELA-AU 6 11179215 11179216 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 11179243 11179243 single base substitution C T downstream_gene_variant MELA-AU 6 11179465 11179465 single base substitution C T downstream_gene_variant MELA-AU 6 11179486 11179486 single base substitution C T downstream_gene_variant MELA-AU 6 11179514 11179514 single base substitution C T downstream_gene_variant MELA-AU 6 11179552 11179552 single base substitution T C downstream_gene_variant MELA-AU 6 11179560 11179560 single base substitution G A downstream_gene_variant MELA-AU 6 11179975 11179975 single base substitution G A downstream_gene_variant MELA-AU 6 11180434 11180434 single base substitution A G downstream_gene_variant MELA-AU 6 11181317 11181317 single base substitution C T downstream_gene_variant MELA-AU 6 11182595 11182595 single base substitution T G downstream_gene_variant MELA-AU 6 11184200 11184200 single base substitution G A 3_prime_UTR_variant MELA-AU 6 11184200 11184200 single base substitution G A downstream_gene_variant MELA-AU 6 11184205 11184205 single base substitution G A 3_prime_UTR_variant MELA-AU 6 11184205 11184205 single base substitution G A downstream_gene_variant MELA-AU 6 11184336 11184336 single base substitution G A 3_prime_UTR_variant MELA-AU 6 11184336 11184336 single base substitution G A downstream_gene_variant MELA-AU 6 11185388 11185388 single base substitution T A 3_prime_UTR_variant MELA-AU 6 11186518 11186518 single base substitution G A downstream_gene_variant MELA-AU 6 11186518 11186518 single base substitution G A intron_variant MELA-AU 6 11187884 11187884 single base substitution G A downstream_gene_variant MELA-AU 6 11187884 11187884 single base substitution G A intron_variant MELA-AU 6 11187998 11187998 single base substitution G T downstream_gene_variant MELA-AU 6 11187998 11187998 single base substitution G T intron_variant MELA-AU 6 11188134 11188134 single base substitution C T downstream_gene_variant MELA-AU 6 11188134 11188134 single base substitution C T intron_variant MELA-AU 6 11189161 11189161 single base substitution A T downstream_gene_variant MELA-AU 6 11189161 11189161 single base substitution A T intron_variant MELA-AU 6 11189945 11189945 single base substitution A G downstream_gene_variant MELA-AU 6 11189945 11189945 single base substitution A G intron_variant MELA-AU 6 11190299 11190299 single base substitution C T 3_prime_UTR_variant MELA-AU 6 11190299 11190299 single base substitution C T downstream_gene_variant MELA-AU 6 11190299 11190299 single base substitution C T synonymous_variant K601K 1803G>A MELA-AU 6 11193431 11193431 single base substitution G A intron_variant MELA-AU 6 11193431 11193431 single base substitution G A upstream_gene_variant MELA-AU 6 11193826 11193826 single base substitution C T downstream_gene_variant MELA-AU 6 11193826 11193826 single base substitution C T missense_variant G187R 559G>A MELA-AU 6 11193826 11193826 single base substitution C T splice_region_variant MELA-AU 6 11193826 11193826 single base substitution C T upstream_gene_variant MELA-AU 6 11194170 11194170 single base substitution G A downstream_gene_variant MELA-AU 6 11194170 11194170 single base substitution G A intron_variant MELA-AU 6 11194170 11194170 single base substitution G A upstream_gene_variant MELA-AU 6 11194242 11194242 single base substitution G A downstream_gene_variant MELA-AU 6 11194242 11194242 single base substitution G A intron_variant MELA-AU 6 11194242 11194242 single base substitution G A upstream_gene_variant MELA-AU 6 11195723 11195723 single base substitution G A downstream_gene_variant MELA-AU 6 11195723 11195723 single base substitution G A intron_variant MELA-AU 6 11195723 11195723 single base substitution G A upstream_gene_variant MELA-AU 6 11196003 11196003 single base substitution G A downstream_gene_variant MELA-AU 6 11196003 11196003 single base substitution G A intron_variant MELA-AU 6 11196003 11196003 single base substitution G A upstream_gene_variant MELA-AU 6 11196055 11196055 single base substitution C T downstream_gene_variant MELA-AU 6 11196055 11196055 single base substitution C T intron_variant MELA-AU 6 11196055 11196055 single base substitution C T upstream_gene_variant MELA-AU 6 11196211 11196211 single base substitution G A downstream_gene_variant MELA-AU 6 11196211 11196211 single base substitution G A intron_variant MELA-AU 6 11196211 11196211 single base substitution G A upstream_gene_variant MELA-AU 6 11196689 11196689 single base substitution C T downstream_gene_variant MELA-AU 6 11196689 11196689 single base substitution C T intron_variant MELA-AU 6 11196689 11196689 single base substitution C T upstream_gene_variant MELA-AU 6 11196931 11196931 single base substitution C T downstream_gene_variant MELA-AU 6 11196931 11196931 single base substitution C T intron_variant MELA-AU 6 11196931 11196931 single base substitution C T upstream_gene_variant MELA-AU 6 11197684 11197684 single base substitution C T downstream_gene_variant MELA-AU 6 11197684 11197684 single base substitution C T intron_variant MELA-AU 6 11197684 11197684 single base substitution C T upstream_gene_variant MELA-AU 6 11197759 11197759 single base substitution G A downstream_gene_variant MELA-AU 6 11197759 11197759 single base substitution G A intron_variant MELA-AU 6 11197759 11197759 single base substitution G A upstream_gene_variant MELA-AU 6 11198183 11198184 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 11198183 11198184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11198413 11198413 single base substitution G A downstream_gene_variant MELA-AU 6 11198413 11198413 single base substitution G A intron_variant MELA-AU 6 11199637 11199637 single base substitution G A 3_prime_UTR_variant MELA-AU 6 11199637 11199637 single base substitution G A intron_variant MELA-AU 6 11200979 11200980 multiple base substitution (>=2bp and <=200bp) TG CT 3_prime_UTR_variant MELA-AU 6 11200979 11200980 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 6 11201002 11201002 single base substitution G C 3_prime_UTR_variant MELA-AU 6 11201002 11201002 single base substitution G C intron_variant MELA-AU 6 11201532 11201532 single base substitution T C intron_variant MELA-AU 6 11201996 11201996 single base substitution G A intron_variant MELA-AU 6 11202001 11202001 single base substitution G A intron_variant MELA-AU 6 11203060 11203060 single base substitution A G intron_variant MELA-AU 6 11203322 11203322 single base substitution T A intron_variant MELA-AU 6 11204642 11204642 single base substitution G A intron_variant MELA-AU 6 11205460 11205460 single base substitution A C intron_variant MELA-AU 6 11207465 11207465 single base substitution T C intron_variant MELA-AU 6 11209192 11209192 single base substitution C T downstream_gene_variant MELA-AU 6 11209192 11209192 single base substitution C T intron_variant MELA-AU 6 11210219 11210219 single base substitution A C downstream_gene_variant MELA-AU 6 11210219 11210219 single base substitution A C intron_variant MELA-AU 6 11211151 11211153 deletion of <=200bp GGA - downstream_gene_variant MELA-AU 6 11211151 11211153 deletion of <=200bp GGA - intron_variant MELA-AU 6 11211466 11211466 single base substitution G A downstream_gene_variant MELA-AU 6 11211466 11211466 single base substitution G A intron_variant MELA-AU 6 11211920 11211921 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 6 11211920 11211921 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 6 11214359 11214360 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 6 11214403 11214403 single base substitution C T intron_variant MELA-AU 6 11215147 11215147 insertion of <=200bp - TA intron_variant MELA-AU 6 11215244 11215244 single base substitution G A intron_variant MELA-AU 6 11215770 11215770 single base substitution G A intron_variant MELA-AU 6 11216713 11216713 single base substitution G A intron_variant MELA-AU 6 11218146 11218146 single base substitution A G intron_variant MELA-AU 6 11219852 11219852 single base substitution G A intron_variant MELA-AU 6 11219871 11219871 single base substitution G C intron_variant MELA-AU 6 11219925 11219925 single base substitution A T intron_variant MELA-AU 6 11220196 11220196 single base substitution T C intron_variant MELA-AU 6 11220867 11220867 single base substitution G A intron_variant MELA-AU 6 11221496 11221496 single base substitution G A intron_variant MELA-AU 6 11222286 11222286 single base substitution G A intron_variant MELA-AU 6 11223599 11223599 single base substitution C T intron_variant MELA-AU 6 11223805 11223805 single base substitution G A intron_variant MELA-AU 6 11224052 11224052 single base substitution A C intron_variant MELA-AU 6 11224145 11224145 single base substitution G A intron_variant MELA-AU 6 11225697 11225697 single base substitution G A intron_variant MELA-AU 6 11226348 11226348 single base substitution G A intron_variant MELA-AU 6 11228215 11228215 single base substitution G A intron_variant MELA-AU 6 11228463 11228463 single base substitution G A intron_variant MELA-AU 6 11228536 11228536 single base substitution G A intron_variant MELA-AU 6 11229260 11229260 single base substitution G A intron_variant MELA-AU 6 11229610 11229610 single base substitution G A intron_variant MELA-AU 6 11229683 11229683 single base substitution C T intron_variant MELA-AU 6 11229756 11229757 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11230999 11230999 single base substitution G A intron_variant MELA-AU 6 11232979 11232979 single base substitution G A intron_variant MELA-AU 6 11232979 11232979 single base substitution G A upstream_gene_variant MELA-AU 6 11233364 11233364 single base substitution C T intron_variant MELA-AU 6 11233364 11233364 single base substitution C T upstream_gene_variant MELA-AU 6 11234273 11234273 single base substitution G A intron_variant MELA-AU 6 11234273 11234273 single base substitution G A upstream_gene_variant MELA-AU 6 11234596 11234596 single base substitution G A intron_variant MELA-AU 6 11234596 11234596 single base substitution G A upstream_gene_variant MELA-AU 6 11234782 11234782 single base substitution C T intron_variant MELA-AU 6 11234782 11234782 single base substitution C T upstream_gene_variant MELA-AU 6 11234848 11234848 single base substitution C T intron_variant MELA-AU 6 11234848 11234848 single base substitution C T upstream_gene_variant MELA-AU 6 11235134 11235134 single base substitution G A intron_variant MELA-AU 6 11235134 11235134 single base substitution G A upstream_gene_variant MELA-AU 6 11235670 11235670 single base substitution G A intron_variant MELA-AU 6 11235670 11235670 single base substitution G A upstream_gene_variant MELA-AU 6 11235873 11235873 single base substitution G A intron_variant MELA-AU 6 11235873 11235873 single base substitution G A upstream_gene_variant MELA-AU 6 11236115 11236116 multiple base substitution (>=2bp and <=200bp) TC GA intron_variant MELA-AU 6 11236115 11236116 multiple base substitution (>=2bp and <=200bp) TC GA upstream_gene_variant MELA-AU 6 11236152 11236152 single base substitution C T intron_variant MELA-AU 6 11236152 11236152 single base substitution C T upstream_gene_variant MELA-AU 6 11236173 11236174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11236173 11236174 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 11236794 11236794 single base substitution C T intron_variant MELA-AU 6 11236794 11236794 single base substitution C T upstream_gene_variant MELA-AU 6 11237092 11237092 single base substitution G A intron_variant MELA-AU 6 11237092 11237092 single base substitution G A upstream_gene_variant MELA-AU 6 11237130 11237130 single base substitution C T intron_variant MELA-AU 6 11237130 11237130 single base substitution C T upstream_gene_variant MELA-AU 6 11237210 11237210 single base substitution C T intron_variant MELA-AU 6 11237210 11237210 single base substitution C T upstream_gene_variant MELA-AU 6 11237378 11237378 single base substitution C T intron_variant MELA-AU 6 11237378 11237378 single base substitution C T upstream_gene_variant MELA-AU 6 11237407 11237407 single base substitution C T intron_variant MELA-AU 6 11237407 11237407 single base substitution C T upstream_gene_variant MELA-AU 6 11237842 11237842 single base substitution C T intron_variant MELA-AU 6 11237842 11237842 single base substitution C T upstream_gene_variant MELA-AU 6 11237959 11237959 single base substitution C T intron_variant MELA-AU 6 11238140 11238140 single base substitution C T intron_variant MELA-AU 6 11238409 11238409 single base substitution A T intron_variant MELA-AU 6 11238576 11238576 single base substitution C T intron_variant MELA-AU 6 11238835 11238835 single base substitution C T intron_variant MELA-AU 6 11238861 11238861 single base substitution C T intron_variant MELA-AU 6 11238884 11238884 single base substitution C T intron_variant MELA-AU 6 11238945 11238945 single base substitution C T intron_variant MELA-AU 6 11239130 11239130 single base substitution C T intron_variant MELA-AU 6 11239383 11239383 single base substitution G A intron_variant MELA-AU 6 11239418 11239418 single base substitution A T intron_variant MELA-AU 6 11239504 11239504 single base substitution A C intron_variant MELA-AU 6 11239690 11239690 single base substitution C T intron_variant MELA-AU 6 11239923 11239923 single base substitution C T intron_variant MELA-AU 6 11240231 11240231 single base substitution C T intron_variant MELA-AU 6 11240433 11240433 single base substitution G A intron_variant MELA-AU 6 11240611 11240611 single base substitution T C intron_variant MELA-AU 6 11240628 11240628 single base substitution C T intron_variant MELA-AU 6 11240887 11240887 single base substitution T C intron_variant MELA-AU 6 11241233 11241233 single base substitution T G intron_variant MELA-AU 6 11241403 11241403 single base substitution C T intron_variant MELA-AU 6 11241657 11241657 single base substitution C T intron_variant MELA-AU 6 11241685 11241685 single base substitution G A intron_variant MELA-AU 6 11241745 11241745 single base substitution C T intron_variant MELA-AU 6 11241843 11241843 single base substitution G A intron_variant MELA-AU 6 11241867 11241867 single base substitution G A intron_variant MELA-AU 6 11242352 11242352 single base substitution C T intron_variant MELA-AU 6 11242583 11242583 single base substitution A T intron_variant MELA-AU 6 11242664 11242664 single base substitution C T intron_variant MELA-AU 6 11242677 11242677 single base substitution G A intron_variant MELA-AU 6 11242744 11242744 single base substitution C T intron_variant MELA-AU 6 11243633 11243633 single base substitution T A intron_variant MELA-AU 6 11243842 11243842 single base substitution C T intron_variant MELA-AU 6 11243880 11243880 single base substitution G A intron_variant MELA-AU 6 11243900 11243900 single base substitution C T intron_variant MELA-AU 6 11243943 11243943 single base substitution C T intron_variant MELA-AU 6 11244008 11244008 single base substitution C T intron_variant MELA-AU 6 11244132 11244132 single base substitution G C intron_variant MELA-AU 6 11244474 11244474 single base substitution C T downstream_gene_variant MELA-AU 6 11244474 11244474 single base substitution C T intron_variant MELA-AU 6 11244663 11244663 single base substitution C T downstream_gene_variant MELA-AU 6 11244663 11244663 single base substitution C T intron_variant MELA-AU 6 11244778 11244778 single base substitution C T downstream_gene_variant MELA-AU 6 11244778 11244778 single base substitution C T intron_variant MELA-AU 6 11245101 11245101 single base substitution G A downstream_gene_variant MELA-AU 6 11245101 11245101 single base substitution G A intron_variant MELA-AU 6 11245532 11245532 single base substitution C A downstream_gene_variant MELA-AU 6 11245532 11245532 single base substitution C A intron_variant MELA-AU 6 11246005 11246005 single base substitution C T downstream_gene_variant MELA-AU 6 11246005 11246005 single base substitution C T intron_variant MELA-AU 6 11246641 11246641 single base substitution C T downstream_gene_variant MELA-AU 6 11246641 11246641 single base substitution C T intron_variant MELA-AU 6 11247467 11247467 single base substitution C T downstream_gene_variant MELA-AU 6 11247467 11247467 single base substitution C T intron_variant MELA-AU 6 11247835 11247835 single base substitution C T downstream_gene_variant MELA-AU 6 11247835 11247835 single base substitution C T intron_variant MELA-AU 6 11248038 11248038 single base substitution G A downstream_gene_variant MELA-AU 6 11248038 11248038 single base substitution G A intron_variant MELA-AU 6 11248797 11248797 single base substitution G A downstream_gene_variant MELA-AU 6 11248797 11248797 single base substitution G A intron_variant MELA-AU 6 11248820 11248820 single base substitution G A downstream_gene_variant MELA-AU 6 11248820 11248820 single base substitution G A intron_variant MELA-AU 6 11248873 11248873 single base substitution C T downstream_gene_variant MELA-AU 6 11248873 11248873 single base substitution C T intron_variant MELA-AU 6 11249121 11249121 single base substitution C T downstream_gene_variant MELA-AU 6 11249121 11249121 single base substitution C T intron_variant MELA-AU 6 11249280 11249280 single base substitution C T downstream_gene_variant MELA-AU 6 11249280 11249280 single base substitution C T exon_variant MELA-AU 6 11249280 11249280 single base substitution C T intron_variant MELA-AU 6 11249297 11249297 single base substitution G A downstream_gene_variant MELA-AU 6 11249297 11249297 single base substitution G A exon_variant MELA-AU 6 11249297 11249297 single base substitution G A intron_variant MELA-AU 6 11249336 11249336 single base substitution G A downstream_gene_variant MELA-AU 6 11249336 11249336 single base substitution G A exon_variant MELA-AU 6 11249336 11249336 single base substitution G A intron_variant MELA-AU 6 11249702 11249702 single base substitution G A downstream_gene_variant MELA-AU 6 11249702 11249702 single base substitution G A intron_variant MELA-AU 6 11249796 11249796 single base substitution C T downstream_gene_variant MELA-AU 6 11249796 11249796 single base substitution C T intron_variant MELA-AU 6 11249992 11249992 single base substitution G A downstream_gene_variant MELA-AU 6 11249992 11249992 single base substitution G A intron_variant MELA-AU 6 11250140 11250140 single base substitution T G downstream_gene_variant MELA-AU 6 11250140 11250140 single base substitution T G intron_variant MELA-AU 6 11250360 11250360 single base substitution C T downstream_gene_variant MELA-AU 6 11250360 11250360 single base substitution C T intron_variant MELA-AU 6 11250928 11250928 single base substitution G A downstream_gene_variant MELA-AU 6 11250928 11250928 single base substitution G A intron_variant MELA-AU 6 11253241 11253241 single base substitution G A intron_variant MELA-AU 6 11253925 11253925 single base substitution A T intron_variant MELA-AU 6 11254154 11254154 single base substitution A T intron_variant MELA-AU 6 11254461 11254461 single base substitution C T intron_variant MELA-AU 6 11254722 11254722 single base substitution T C intron_variant MELA-AU 6 11254895 11254895 single base substitution C T intron_variant MELA-AU 6 11254934 11254934 single base substitution G A intron_variant MELA-AU 6 11255040 11255041 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 6 11255062 11255062 single base substitution T G intron_variant MELA-AU 6 11255114 11255114 single base substitution G A intron_variant MELA-AU 6 11255406 11255406 single base substitution G T intron_variant MELA-AU 6 11255631 11255631 single base substitution C T intron_variant MELA-AU 6 11255729 11255729 single base substitution C T intron_variant MELA-AU 6 11255887 11255887 single base substitution C T intron_variant MELA-AU 6 11255972 11255972 single base substitution C T intron_variant MELA-AU 6 11256044 11256044 single base substitution G A intron_variant MELA-AU 6 11256511 11256511 single base substitution C T intron_variant MELA-AU 6 11256617 11256617 single base substitution C T intron_variant MELA-AU 6 11256847 11256847 single base substitution C T intron_variant MELA-AU 6 11256935 11256935 single base substitution G A intron_variant MELA-AU 6 11256997 11256997 single base substitution G A intron_variant MELA-AU 6 11257210 11257210 single base substitution A G intron_variant MELA-AU 6 11257351 11257351 single base substitution G A intron_variant MELA-AU 6 11259280 11259280 single base substitution C T intron_variant MELA-AU 6 11259329 11259329 single base substitution C T intron_variant MELA-AU 6 11259330 11259330 single base substitution C T intron_variant MELA-AU 6 11259685 11259685 single base substitution T G intron_variant MELA-AU 6 11259733 11259733 single base substitution G A intron_variant MELA-AU 6 11260136 11260136 single base substitution G A intron_variant MELA-AU 6 11260223 11260223 single base substitution C T intron_variant MELA-AU 6 11260919 11260919 single base substitution C T intron_variant MELA-AU 6 11261276 11261276 single base substitution G A intron_variant MELA-AU 6 11261339 11261339 single base substitution C T intron_variant MELA-AU 6 11261582 11261582 single base substitution C T intron_variant MELA-AU 6 11261690 11261691 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11262011 11262012 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11262209 11262209 single base substitution C T intron_variant MELA-AU 6 11262249 11262249 single base substitution G A intron_variant MELA-AU 6 11262297 11262297 single base substitution G A intron_variant MELA-AU 6 11262450 11262450 single base substitution C T intron_variant MELA-AU 6 11262487 11262487 single base substitution C T intron_variant MELA-AU 6 11262799 11262799 single base substitution G A intron_variant MELA-AU 6 11263259 11263259 single base substitution G A intron_variant MELA-AU 6 11263356 11263356 single base substitution A T intron_variant MELA-AU 6 11263395 11263395 single base substitution C T intron_variant MELA-AU 6 11263646 11263646 single base substitution C T intron_variant MELA-AU 6 11263901 11263901 single base substitution T C intron_variant MELA-AU 6 11264229 11264229 single base substitution C T intron_variant MELA-AU 6 11264318 11264318 single base substitution C T intron_variant MELA-AU 6 11264352 11264352 single base substitution G A intron_variant MELA-AU 6 11264420 11264420 single base substitution G A intron_variant MELA-AU 6 11264687 11264687 single base substitution C T intron_variant MELA-AU 6 11264959 11264959 single base substitution C T intron_variant MELA-AU 6 11265106 11265106 single base substitution C G intron_variant MELA-AU 6 11265606 11265606 single base substitution C T intron_variant MELA-AU 6 11265680 11265680 single base substitution C T intron_variant MELA-AU 6 11266339 11266339 single base substitution G A intron_variant MELA-AU 6 11266776 11266776 single base substitution G A downstream_gene_variant MELA-AU 6 11266776 11266776 single base substitution G A intron_variant MELA-AU 6 11266963 11266963 single base substitution T A downstream_gene_variant MELA-AU 6 11266963 11266963 single base substitution T A intron_variant MELA-AU 6 11268167 11268167 single base substitution C T downstream_gene_variant MELA-AU 6 11268167 11268167 single base substitution C T intron_variant MELA-AU 6 11268979 11268979 single base substitution G C downstream_gene_variant MELA-AU 6 11268979 11268979 single base substitution G C intron_variant MELA-AU 6 11269112 11269112 single base substitution C T downstream_gene_variant MELA-AU 6 11269112 11269112 single base substitution C T intron_variant MELA-AU 6 11269481 11269481 single base substitution C T downstream_gene_variant MELA-AU 6 11269481 11269481 single base substitution C T intron_variant MELA-AU 6 11270193 11270193 single base substitution C T downstream_gene_variant MELA-AU 6 11270193 11270193 single base substitution C T intron_variant MELA-AU 6 11271141 11271141 single base substitution G A downstream_gene_variant MELA-AU 6 11271141 11271141 single base substitution G A intron_variant MELA-AU 6 11271247 11271247 single base substitution C T downstream_gene_variant MELA-AU 6 11271247 11271247 single base substitution C T intron_variant MELA-AU 6 11271261 11271261 single base substitution C T downstream_gene_variant MELA-AU 6 11271261 11271261 single base substitution C T intron_variant MELA-AU 6 11271496 11271496 single base substitution C T downstream_gene_variant MELA-AU 6 11271496 11271496 single base substitution C T intron_variant MELA-AU 6 11271500 11271500 single base substitution C T downstream_gene_variant MELA-AU 6 11271500 11271500 single base substitution C T intron_variant MELA-AU 6 11271541 11271541 single base substitution G A downstream_gene_variant MELA-AU 6 11271541 11271541 single base substitution G A intron_variant MELA-AU 6 11271594 11271594 single base substitution C T downstream_gene_variant MELA-AU 6 11271594 11271594 single base substitution C T intron_variant MELA-AU 6 11272004 11272005 multiple base substitution (>=2bp and <=200bp) CA TC exon_variant MELA-AU 6 11272004 11272005 multiple base substitution (>=2bp and <=200bp) CA TC intron_variant MELA-AU 6 11272299 11272299 single base substitution G A intron_variant MELA-AU 6 11272429 11272429 single base substitution G A intron_variant MELA-AU 6 11272477 11272477 single base substitution C T intron_variant MELA-AU 6 11272806 11272806 single base substitution G A intron_variant MELA-AU 6 11272858 11272858 single base substitution C T intron_variant MELA-AU 6 11272983 11272983 single base substitution G A intron_variant MELA-AU 6 11273435 11273435 single base substitution C T intron_variant MELA-AU 6 11273453 11273453 single base substitution G A intron_variant MELA-AU 6 11273539 11273539 single base substitution C T intron_variant MELA-AU 6 11273744 11273745 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11273839 11273839 single base substitution C T intron_variant MELA-AU 6 11273970 11273970 single base substitution C T intron_variant MELA-AU 6 11274066 11274066 single base substitution G A intron_variant MELA-AU 6 11274192 11274192 single base substitution C T intron_variant MELA-AU 6 11274302 11274302 single base substitution C T intron_variant MELA-AU 6 11274344 11274344 single base substitution C T intron_variant MELA-AU 6 11274560 11274560 single base substitution C T intron_variant MELA-AU 6 11274749 11274749 single base substitution C T intron_variant MELA-AU 6 11274850 11274850 single base substitution C T intron_variant MELA-AU 6 11274947 11274947 single base substitution A C intron_variant MELA-AU 6 11275088 11275088 single base substitution C T intron_variant MELA-AU 6 11275734 11275734 single base substitution C T intron_variant MELA-AU 6 11275782 11275782 single base substitution C T intron_variant MELA-AU 6 11275798 11275798 single base substitution C T intron_variant MELA-AU 6 11275874 11275874 single base substitution C G intron_variant MELA-AU 6 11275881 11275881 single base substitution C T intron_variant MELA-AU 6 11276015 11276016 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 6 11276051 11276051 single base substitution G A intron_variant MELA-AU 6 11277569 11277569 single base substitution T C intron_variant MELA-AU 6 11277862 11277862 single base substitution G A intron_variant MELA-AU 6 11277863 11277863 single base substitution G A intron_variant MELA-AU 6 11278273 11278273 single base substitution G A intron_variant MELA-AU 6 11278336 11278336 single base substitution C T intron_variant MELA-AU 6 11278664 11278664 single base substitution G A intron_variant MELA-AU 6 11278730 11278730 single base substitution C T intron_variant MELA-AU 6 11278836 11278836 single base substitution G A intron_variant MELA-AU 6 11279356 11279357 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11280156 11280156 single base substitution C T intron_variant MELA-AU 6 11280573 11280573 single base substitution G A intron_variant MELA-AU 6 11280858 11280858 single base substitution G T intron_variant MELA-AU 6 11280896 11280896 single base substitution C T intron_variant MELA-AU 6 11280961 11280961 single base substitution C T intron_variant MELA-AU 6 11280976 11280976 single base substitution C T intron_variant MELA-AU 6 11281492 11281492 single base substitution C T intron_variant MELA-AU 6 11281493 11281493 single base substitution C T intron_variant MELA-AU 6 11281526 11281526 single base substitution A T intron_variant MELA-AU 6 11281537 11281537 single base substitution C T intron_variant MELA-AU 6 11281678 11281678 single base substitution C T intron_variant MELA-AU 6 11281717 11281717 single base substitution G A intron_variant MELA-AU 6 11281742 11281742 single base substitution C T intron_variant MELA-AU 6 11282072 11282072 single base substitution C T intron_variant MELA-AU 6 11282197 11282197 single base substitution C T intron_variant MELA-AU 6 11282674 11282674 single base substitution T C intron_variant MELA-AU 6 11282675 11282675 single base substitution C G intron_variant MELA-AU 6 11282916 11282916 single base substitution C T intron_variant MELA-AU 6 11283034 11283034 single base substitution C T intron_variant MELA-AU 6 11283059 11283059 single base substitution C T intron_variant MELA-AU 6 11283319 11283319 single base substitution G A intron_variant MELA-AU 6 11283431 11283431 single base substitution C T intron_variant MELA-AU 6 11283480 11283480 single base substitution C T intron_variant MELA-AU 6 11283534 11283534 single base substitution C T intron_variant MELA-AU 6 11283567 11283568 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 6 11283686 11283686 single base substitution C T intron_variant MELA-AU 6 11283687 11283687 single base substitution C T intron_variant MELA-AU 6 11283988 11283988 single base substitution C T intron_variant MELA-AU 6 11284027 11284027 single base substitution G A intron_variant MELA-AU 6 11284217 11284217 single base substitution G A intron_variant MELA-AU 6 11284268 11284268 single base substitution A G intron_variant MELA-AU 6 11284414 11284414 single base substitution G A intron_variant MELA-AU 6 11284709 11284709 single base substitution G A intron_variant MELA-AU 6 11285004 11285004 single base substitution G A intron_variant MELA-AU 6 11285084 11285084 single base substitution A T intron_variant MELA-AU 6 11285098 11285098 single base substitution G A intron_variant MELA-AU 6 11285187 11285187 single base substitution G A intron_variant MELA-AU 6 11285192 11285192 single base substitution G A intron_variant MELA-AU 6 11285312 11285312 single base substitution T G intron_variant MELA-AU 6 11285505 11285505 single base substitution G A intron_variant MELA-AU 6 11285538 11285538 single base substitution C T intron_variant MELA-AU 6 11285667 11285667 single base substitution T C intron_variant MELA-AU 6 11285858 11285858 single base substitution T A intron_variant MELA-AU 6 11285980 11285980 single base substitution A T intron_variant MELA-AU 6 11286109 11286109 single base substitution A G intron_variant MELA-AU 6 11286263 11286263 single base substitution G A intron_variant MELA-AU 6 11286399 11286399 single base substitution A T intron_variant MELA-AU 6 11286598 11286598 single base substitution G A intron_variant MELA-AU 6 11286672 11286672 single base substitution G A intron_variant MELA-AU 6 11287032 11287032 single base substitution G A intron_variant MELA-AU 6 11287033 11287033 single base substitution T C intron_variant MELA-AU 6 11287146 11287146 single base substitution C T intron_variant MELA-AU 6 11287434 11287434 single base substitution C T intron_variant MELA-AU 6 11287445 11287445 single base substitution G A intron_variant MELA-AU 6 11287569 11287569 single base substitution G A intron_variant MELA-AU 6 11287851 11287851 single base substitution C T intron_variant MELA-AU 6 11287921 11287921 single base substitution T G intron_variant MELA-AU 6 11287935 11287935 single base substitution C T intron_variant MELA-AU 6 11287989 11287989 single base substitution G A intron_variant MELA-AU 6 11288007 11288007 single base substitution G A intron_variant MELA-AU 6 11288008 11288008 single base substitution G A intron_variant MELA-AU 6 11288267 11288267 single base substitution C T intron_variant MELA-AU 6 11288481 11288481 single base substitution G A intron_variant MELA-AU 6 11288884 11288884 single base substitution C T intron_variant MELA-AU 6 11289414 11289414 single base substitution G A intron_variant MELA-AU 6 11289575 11289575 single base substitution G C intron_variant MELA-AU 6 11289749 11289749 single base substitution G A intron_variant MELA-AU 6 11289861 11289861 single base substitution T A intron_variant MELA-AU 6 11290351 11290351 single base substitution C T intron_variant MELA-AU 6 11290393 11290393 single base substitution C T intron_variant MELA-AU 6 11290540 11290540 single base substitution C T intron_variant MELA-AU 6 11290661 11290661 single base substitution C T intron_variant MELA-AU 6 11290839 11290839 single base substitution G A intron_variant MELA-AU 6 11290861 11290861 single base substitution G A intron_variant MELA-AU 6 11290885 11290885 single base substitution G A intron_variant MELA-AU 6 11290932 11290932 single base substitution G A intron_variant MELA-AU 6 11290942 11290942 single base substitution C T intron_variant MELA-AU 6 11291025 11291025 single base substitution C T intron_variant MELA-AU 6 11291201 11291201 single base substitution C T intron_variant MELA-AU 6 11291246 11291246 single base substitution C T intron_variant MELA-AU 6 11291387 11291387 single base substitution G A intron_variant MELA-AU 6 11291618 11291618 single base substitution C T intron_variant MELA-AU 6 11291863 11291863 single base substitution G A intron_variant MELA-AU 6 11292135 11292135 single base substitution C T intron_variant MELA-AU 6 11292455 11292455 single base substitution C T intron_variant MELA-AU 6 11292702 11292702 single base substitution G C intron_variant MELA-AU 6 11293420 11293420 single base substitution T A intron_variant MELA-AU 6 11293623 11293623 single base substitution C T intron_variant MELA-AU 6 11293686 11293686 single base substitution C T intron_variant MELA-AU 6 11293908 11293908 single base substitution C T intron_variant MELA-AU 6 11294230 11294230 single base substitution C T intron_variant MELA-AU 6 11294238 11294239 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 6 11294288 11294288 single base substitution C T intron_variant MELA-AU 6 11294371 11294371 single base substitution G A intron_variant MELA-AU 6 11294688 11294688 single base substitution C T intron_variant MELA-AU 6 11295191 11295191 single base substitution A T intron_variant MELA-AU 6 11295332 11295332 single base substitution A G intron_variant MELA-AU 6 11295386 11295386 single base substitution G A intron_variant MELA-AU 6 11295469 11295469 single base substitution C T intron_variant MELA-AU 6 11295776 11295776 single base substitution C T intron_variant MELA-AU 6 11295777 11295777 single base substitution C T intron_variant MELA-AU 6 11295818 11295818 single base substitution C T intron_variant MELA-AU 6 11295965 11295965 single base substitution C A intron_variant MELA-AU 6 11296168 11296168 single base substitution C T intron_variant MELA-AU 6 11296275 11296276 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11296466 11296466 single base substitution C T intron_variant MELA-AU 6 11296562 11296562 single base substitution C G intron_variant MELA-AU 6 11296842 11296842 single base substitution C T intron_variant MELA-AU 6 11296842 11296843 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11296875 11296875 single base substitution C T intron_variant MELA-AU 6 11296879 11296879 single base substitution C T intron_variant MELA-AU 6 11296883 11296883 single base substitution C T intron_variant MELA-AU 6 11296902 11296902 single base substitution C T intron_variant MELA-AU 6 11296929 11296929 single base substitution C T intron_variant MELA-AU 6 11296957 11296957 single base substitution T C intron_variant MELA-AU 6 11296962 11296963 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 6 11297084 11297084 single base substitution C T intron_variant MELA-AU 6 11297158 11297158 single base substitution C T intron_variant MELA-AU 6 11297172 11297173 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 6 11297255 11297255 single base substitution C T intron_variant MELA-AU 6 11297262 11297262 single base substitution G A intron_variant MELA-AU 6 11297510 11297510 single base substitution G A intron_variant MELA-AU 6 11297788 11297788 single base substitution C T intron_variant MELA-AU 6 11297987 11297987 single base substitution C T intron_variant MELA-AU 6 11298045 11298045 single base substitution G A intron_variant MELA-AU 6 11298337 11298337 single base substitution C T intron_variant MELA-AU 6 11298578 11298578 single base substitution G A intron_variant MELA-AU 6 11298622 11298622 single base substitution C T intron_variant MELA-AU 6 11298700 11298700 single base substitution T C intron_variant MELA-AU 6 11299049 11299049 single base substitution G A intron_variant MELA-AU 6 11299308 11299308 single base substitution C T intron_variant MELA-AU 6 11299583 11299583 single base substitution G A intron_variant MELA-AU 6 11299653 11299653 single base substitution G A intron_variant MELA-AU 6 11299791 11299791 single base substitution G A intron_variant MELA-AU 6 11299869 11299869 single base substitution C T intron_variant MELA-AU 6 11299896 11299896 single base substitution G A intron_variant MELA-AU 6 11299937 11299937 single base substitution G A intron_variant MELA-AU 6 11299980 11299980 single base substitution C T intron_variant MELA-AU 6 11300014 11300014 single base substitution G A intron_variant MELA-AU 6 11300034 11300034 single base substitution G A intron_variant MELA-AU 6 11300071 11300071 single base substitution G A intron_variant MELA-AU 6 11300219 11300219 single base substitution G A intron_variant MELA-AU 6 11300352 11300352 deletion of <=200bp G - downstream_gene_variant MELA-AU 6 11300352 11300352 deletion of <=200bp G - intron_variant MELA-AU 6 11300428 11300428 single base substitution A T downstream_gene_variant MELA-AU 6 11300428 11300428 single base substitution A T intron_variant MELA-AU 6 11300438 11300438 single base substitution C T downstream_gene_variant MELA-AU 6 11300438 11300438 single base substitution C T intron_variant MELA-AU 6 11300464 11300464 single base substitution C T downstream_gene_variant MELA-AU 6 11300464 11300464 single base substitution C T intron_variant MELA-AU 6 11300580 11300580 single base substitution G A downstream_gene_variant MELA-AU 6 11300580 11300580 single base substitution G A intron_variant MELA-AU 6 11300730 11300730 single base substitution C T downstream_gene_variant MELA-AU 6 11300730 11300730 single base substitution C T intron_variant MELA-AU 6 11300770 11300770 single base substitution G A downstream_gene_variant MELA-AU 6 11300770 11300770 single base substitution G A intron_variant MELA-AU 6 11300869 11300869 single base substitution G A downstream_gene_variant MELA-AU 6 11300869 11300869 single base substitution G A intron_variant MELA-AU 6 11301026 11301026 single base substitution C T downstream_gene_variant MELA-AU 6 11301026 11301026 single base substitution C T intron_variant MELA-AU 6 11301089 11301089 single base substitution C T downstream_gene_variant MELA-AU 6 11301089 11301089 single base substitution C T intron_variant MELA-AU 6 11301167 11301167 single base substitution G A downstream_gene_variant MELA-AU 6 11301167 11301167 single base substitution G A intron_variant MELA-AU 6 11301307 11301307 single base substitution A G downstream_gene_variant MELA-AU 6 11301307 11301307 single base substitution A G intron_variant MELA-AU 6 11301421 11301421 single base substitution G A downstream_gene_variant MELA-AU 6 11301421 11301421 single base substitution G A intron_variant MELA-AU 6 11302012 11302012 single base substitution G A downstream_gene_variant MELA-AU 6 11302012 11302012 single base substitution G A intron_variant MELA-AU 6 11302236 11302236 single base substitution A T downstream_gene_variant MELA-AU 6 11302236 11302236 single base substitution A T intron_variant MELA-AU 6 11302414 11302414 single base substitution G A downstream_gene_variant MELA-AU 6 11302414 11302414 single base substitution G A intron_variant MELA-AU 6 11302753 11302753 single base substitution G A downstream_gene_variant MELA-AU 6 11302753 11302753 single base substitution G A intron_variant MELA-AU 6 11302801 11302801 single base substitution G A downstream_gene_variant MELA-AU 6 11302801 11302801 single base substitution G A intron_variant MELA-AU 6 11303163 11303163 single base substitution G A downstream_gene_variant MELA-AU 6 11303163 11303163 single base substitution G A intron_variant MELA-AU 6 11303183 11303183 single base substitution C G downstream_gene_variant MELA-AU 6 11303183 11303183 single base substitution C G intron_variant MELA-AU 6 11303250 11303250 single base substitution G A downstream_gene_variant MELA-AU 6 11303250 11303250 single base substitution G A intron_variant MELA-AU 6 11303364 11303364 single base substitution C A downstream_gene_variant MELA-AU 6 11303364 11303364 single base substitution C A intron_variant MELA-AU 6 11303372 11303372 single base substitution C T downstream_gene_variant MELA-AU 6 11303372 11303372 single base substitution C T intron_variant MELA-AU 6 11303406 11303406 single base substitution G A downstream_gene_variant MELA-AU 6 11303406 11303406 single base substitution G A intron_variant MELA-AU 6 11304370 11304370 single base substitution A G downstream_gene_variant MELA-AU 6 11304370 11304370 single base substitution A G intron_variant MELA-AU 6 11304381 11304381 single base substitution G A downstream_gene_variant MELA-AU 6 11304381 11304381 single base substitution G A intron_variant MELA-AU 6 11304610 11304610 single base substitution C T downstream_gene_variant MELA-AU 6 11304610 11304610 single base substitution C T intron_variant MELA-AU 6 11304678 11304678 single base substitution C T downstream_gene_variant MELA-AU 6 11304678 11304678 single base substitution C T intron_variant MELA-AU 6 11304797 11304797 single base substitution C T downstream_gene_variant MELA-AU 6 11304797 11304797 single base substitution C T intron_variant MELA-AU 6 11304867 11304867 single base substitution G A downstream_gene_variant MELA-AU 6 11304867 11304867 single base substitution G A intron_variant MELA-AU 6 11304915 11304915 single base substitution C T downstream_gene_variant MELA-AU 6 11304915 11304915 single base substitution C T intron_variant MELA-AU 6 11305016 11305016 single base substitution A G downstream_gene_variant MELA-AU 6 11305016 11305016 single base substitution A G intron_variant MELA-AU 6 11305054 11305054 single base substitution G A downstream_gene_variant MELA-AU 6 11305054 11305054 single base substitution G A intron_variant MELA-AU 6 11305168 11305168 single base substitution C T downstream_gene_variant MELA-AU 6 11305168 11305168 single base substitution C T intron_variant MELA-AU 6 11305209 11305209 single base substitution T G downstream_gene_variant MELA-AU 6 11305209 11305209 single base substitution T G intron_variant MELA-AU 6 11305242 11305242 single base substitution G A downstream_gene_variant MELA-AU 6 11305242 11305242 single base substitution G A intron_variant MELA-AU 6 11305247 11305247 single base substitution C T downstream_gene_variant MELA-AU 6 11305247 11305247 single base substitution C T intron_variant MELA-AU 6 11305554 11305554 single base substitution G A downstream_gene_variant MELA-AU 6 11305554 11305554 single base substitution G A exon_variant MELA-AU 6 11305554 11305554 single base substitution G A intron_variant MELA-AU 6 11305630 11305630 single base substitution C T downstream_gene_variant MELA-AU 6 11305630 11305630 single base substitution C T intron_variant MELA-AU 6 11305643 11305643 single base substitution C T downstream_gene_variant MELA-AU 6 11305643 11305643 single base substitution C T intron_variant MELA-AU 6 11305801 11305801 single base substitution G T downstream_gene_variant MELA-AU 6 11305801 11305801 single base substitution G T intron_variant MELA-AU 6 11306332 11306332 single base substitution G T 5_prime_UTR_variant MELA-AU 6 11306332 11306332 single base substitution G T exon_variant MELA-AU 6 11306711 11306711 single base substitution G T intron_variant MELA-AU 6 11306828 11306836 deletion of <=200bp TCATTGATT - intron_variant MELA-AU 6 11306923 11306923 single base substitution G T intron_variant MELA-AU 6 11307009 11307009 single base substitution G A intron_variant MELA-AU 6 11307020 11307020 single base substitution A G intron_variant MELA-AU 6 11307240 11307240 single base substitution G A intron_variant MELA-AU 6 11307583 11307583 single base substitution G A intron_variant MELA-AU 6 11307590 11307590 single base substitution C T intron_variant MELA-AU 6 11307908 11307908 single base substitution C T intron_variant MELA-AU 6 11307961 11307961 single base substitution A T intron_variant MELA-AU 6 11308059 11308059 single base substitution C T intron_variant MELA-AU 6 11308165 11308165 single base substitution G A intron_variant MELA-AU 6 11308165 11308166 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11308167 11308167 single base substitution G A intron_variant MELA-AU 6 11308188 11308188 single base substitution G A intron_variant MELA-AU 6 11308270 11308270 single base substitution G A intron_variant MELA-AU 6 11308870 11308871 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11309029 11309029 single base substitution C T intron_variant MELA-AU 6 11309059 11309059 single base substitution G A intron_variant MELA-AU 6 11309275 11309275 single base substitution C T intron_variant MELA-AU 6 11309503 11309503 single base substitution C T intron_variant MELA-AU 6 11309633 11309633 single base substitution G A intron_variant MELA-AU 6 11309774 11309774 single base substitution C T intron_variant MELA-AU 6 11309961 11309961 single base substitution G A intron_variant MELA-AU 6 11309965 11309965 single base substitution T A intron_variant MELA-AU 6 11309974 11309974 single base substitution C T intron_variant MELA-AU 6 11310018 11310018 single base substitution G A intron_variant MELA-AU 6 11310183 11310183 single base substitution C T intron_variant MELA-AU 6 11310576 11310576 single base substitution C T intron_variant MELA-AU 6 11310577 11310577 single base substitution C T intron_variant MELA-AU 6 11310613 11310613 single base substitution C T intron_variant MELA-AU 6 11310627 11310627 single base substitution C T intron_variant MELA-AU 6 11310653 11310653 single base substitution C T intron_variant MELA-AU 6 11310884 11310884 single base substitution C T intron_variant MELA-AU 6 11311007 11311007 single base substitution C T intron_variant MELA-AU 6 11311038 11311038 single base substitution G A intron_variant MELA-AU 6 11311152 11311152 single base substitution C T intron_variant MELA-AU 6 11311285 11311285 single base substitution C T intron_variant MELA-AU 6 11311297 11311298 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 6 11311382 11311382 single base substitution G C intron_variant MELA-AU 6 11311573 11311573 single base substitution G A intron_variant MELA-AU 6 11311627 11311627 single base substitution C T intron_variant MELA-AU 6 11311640 11311640 single base substitution C T intron_variant MELA-AU 6 11311653 11311654 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11311683 11311683 single base substitution G A intron_variant MELA-AU 6 11311830 11311831 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11312021 11312021 single base substitution C T intron_variant MELA-AU 6 11312110 11312110 single base substitution C T intron_variant MELA-AU 6 11312327 11312327 single base substitution C T intron_variant MELA-AU 6 11312388 11312388 single base substitution C T intron_variant MELA-AU 6 11312548 11312548 single base substitution C T intron_variant MELA-AU 6 11312701 11312701 single base substitution C T intron_variant MELA-AU 6 11312945 11312945 single base substitution T A intron_variant MELA-AU 6 11313097 11313097 single base substitution G A intron_variant MELA-AU 6 11313128 11313128 deletion of <=200bp A - intron_variant MELA-AU 6 11313133 11313133 single base substitution C T intron_variant MELA-AU 6 11313313 11313313 single base substitution G A intron_variant MELA-AU 6 11313350 11313350 single base substitution G A intron_variant MELA-AU 6 11313554 11313554 single base substitution G A intron_variant MELA-AU 6 11314192 11314192 single base substitution T C intron_variant MELA-AU 6 11314228 11314228 single base substitution C T intron_variant MELA-AU 6 11314237 11314237 single base substitution A T intron_variant MELA-AU 6 11314455 11314455 single base substitution C T intron_variant MELA-AU 6 11314570 11314570 single base substitution C T intron_variant MELA-AU 6 11314659 11314659 single base substitution T A intron_variant MELA-AU 6 11314970 11314970 single base substitution G A intron_variant MELA-AU 6 11315317 11315317 single base substitution C T intron_variant MELA-AU 6 11315489 11315489 single base substitution G A intron_variant MELA-AU 6 11315631 11315631 single base substitution G A intron_variant MELA-AU 6 11315906 11315906 single base substitution G A intron_variant MELA-AU 6 11316165 11316165 single base substitution C T intron_variant MELA-AU 6 11316604 11316604 single base substitution C T intron_variant MELA-AU 6 11316649 11316649 single base substitution G A intron_variant MELA-AU 6 11316698 11316698 single base substitution C T intron_variant MELA-AU 6 11316715 11316715 single base substitution C T intron_variant MELA-AU 6 11316809 11316809 single base substitution G A intron_variant MELA-AU 6 11316904 11316904 single base substitution G A intron_variant MELA-AU 6 11316999 11316999 single base substitution G A intron_variant MELA-AU 6 11317061 11317061 single base substitution G A intron_variant MELA-AU 6 11317116 11317116 single base substitution G A intron_variant MELA-AU 6 11317140 11317140 single base substitution G A intron_variant MELA-AU 6 11317642 11317642 single base substitution C T intron_variant MELA-AU 6 11317682 11317682 single base substitution G A intron_variant MELA-AU 6 11317787 11317787 single base substitution G A intron_variant MELA-AU 6 11318044 11318044 single base substitution C T intron_variant MELA-AU 6 11318189 11318189 single base substitution G A intron_variant MELA-AU 6 11318246 11318246 single base substitution C T intron_variant MELA-AU 6 11318267 11318267 single base substitution G A intron_variant MELA-AU 6 11318532 11318532 single base substitution G A intron_variant MELA-AU 6 11320289 11320289 single base substitution C T intron_variant MELA-AU 6 11320385 11320385 single base substitution C T intron_variant MELA-AU 6 11320560 11320560 single base substitution G A intron_variant MELA-AU 6 11320619 11320619 single base substitution G T intron_variant MELA-AU 6 11320835 11320835 single base substitution C A intron_variant MELA-AU 6 11320974 11320974 single base substitution G A intron_variant MELA-AU 6 11321119 11321119 single base substitution C T intron_variant MELA-AU 6 11321124 11321124 single base substitution C T intron_variant MELA-AU 6 11321400 11321400 single base substitution A C intron_variant MELA-AU 6 11321409 11321409 single base substitution G A intron_variant MELA-AU 6 11321465 11321465 single base substitution G A intron_variant MELA-AU 6 11321555 11321555 single base substitution G A intron_variant MELA-AU 6 11321723 11321723 single base substitution C T intron_variant MELA-AU 6 11321797 11321797 single base substitution C T intron_variant MELA-AU 6 11322213 11322213 single base substitution G A intron_variant MELA-AU 6 11322390 11322390 single base substitution C T intron_variant MELA-AU 6 11322396 11322396 single base substitution G A intron_variant MELA-AU 6 11322426 11322426 single base substitution G A intron_variant MELA-AU 6 11322882 11322882 single base substitution G A intron_variant MELA-AU 6 11323088 11323088 single base substitution G A intron_variant MELA-AU 6 11323892 11323892 single base substitution G A downstream_gene_variant MELA-AU 6 11323892 11323892 single base substitution G A intron_variant MELA-AU 6 11323945 11323945 single base substitution A T downstream_gene_variant MELA-AU 6 11323945 11323945 single base substitution A T intron_variant MELA-AU 6 11324096 11324096 single base substitution C T downstream_gene_variant MELA-AU 6 11324096 11324096 single base substitution C T intron_variant MELA-AU 6 11324214 11324214 single base substitution T C downstream_gene_variant MELA-AU 6 11324214 11324214 single base substitution T C intron_variant MELA-AU 6 11324240 11324240 single base substitution G A downstream_gene_variant MELA-AU 6 11324240 11324240 single base substitution G A intron_variant MELA-AU 6 11324454 11324454 single base substitution C T downstream_gene_variant MELA-AU 6 11324454 11324454 single base substitution C T intron_variant MELA-AU 6 11324650 11324650 single base substitution G A downstream_gene_variant MELA-AU 6 11324650 11324650 single base substitution G A intron_variant MELA-AU 6 11324785 11324785 single base substitution T A downstream_gene_variant MELA-AU 6 11324785 11324785 single base substitution T A intron_variant MELA-AU 6 11324827 11324827 single base substitution G A downstream_gene_variant MELA-AU 6 11324827 11324827 single base substitution G A intron_variant MELA-AU 6 11325221 11325221 single base substitution A G downstream_gene_variant MELA-AU 6 11325221 11325221 single base substitution A G intron_variant MELA-AU 6 11325336 11325336 single base substitution C T downstream_gene_variant MELA-AU 6 11325336 11325336 single base substitution C T intron_variant MELA-AU 6 11325353 11325354 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 11325353 11325354 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11325517 11325517 single base substitution G A downstream_gene_variant MELA-AU 6 11325517 11325517 single base substitution G A intron_variant MELA-AU 6 11325848 11325848 single base substitution G A downstream_gene_variant MELA-AU 6 11325848 11325848 single base substitution G A intron_variant MELA-AU 6 11326177 11326177 single base substitution G A downstream_gene_variant MELA-AU 6 11326177 11326177 single base substitution G A intron_variant MELA-AU 6 11326746 11326746 single base substitution T C downstream_gene_variant MELA-AU 6 11326746 11326746 single base substitution T C intron_variant MELA-AU 6 11326767 11326767 single base substitution C T downstream_gene_variant MELA-AU 6 11326767 11326767 single base substitution C T intron_variant MELA-AU 6 11326848 11326848 single base substitution T A downstream_gene_variant MELA-AU 6 11326848 11326848 single base substitution T A intron_variant MELA-AU 6 11327143 11327143 single base substitution G A downstream_gene_variant MELA-AU 6 11327143 11327143 single base substitution G A intron_variant MELA-AU 6 11327297 11327297 single base substitution C T downstream_gene_variant MELA-AU 6 11327297 11327297 single base substitution C T intron_variant MELA-AU 6 11327494 11327494 single base substitution C T downstream_gene_variant MELA-AU 6 11327494 11327494 single base substitution C T intron_variant MELA-AU 6 11327511 11327511 single base substitution G A downstream_gene_variant MELA-AU 6 11327511 11327511 single base substitution G A intron_variant MELA-AU 6 11327944 11327944 single base substitution C T downstream_gene_variant MELA-AU 6 11327944 11327944 single base substitution C T intron_variant MELA-AU 6 11328057 11328057 single base substitution C T downstream_gene_variant MELA-AU 6 11328057 11328057 single base substitution C T intron_variant MELA-AU 6 11328218 11328218 single base substitution G A downstream_gene_variant MELA-AU 6 11328218 11328218 single base substitution G A intron_variant MELA-AU 6 11328499 11328499 single base substitution G A downstream_gene_variant MELA-AU 6 11328499 11328499 single base substitution G A intron_variant MELA-AU 6 11328510 11328510 single base substitution C T downstream_gene_variant MELA-AU 6 11328510 11328510 single base substitution C T intron_variant MELA-AU 6 11328621 11328621 single base substitution C T downstream_gene_variant MELA-AU 6 11328621 11328621 single base substitution C T intron_variant MELA-AU 6 11328941 11328941 single base substitution C T exon_variant MELA-AU 6 11328941 11328941 single base substitution C T intron_variant MELA-AU 6 11328975 11328975 single base substitution C T exon_variant MELA-AU 6 11328975 11328975 single base substitution C T intron_variant MELA-AU 6 11329117 11329117 single base substitution G A intron_variant MELA-AU 6 11329197 11329197 single base substitution G A intron_variant MELA-AU 6 11329273 11329273 single base substitution C T intron_variant MELA-AU 6 11329592 11329592 single base substitution G A intron_variant MELA-AU 6 11329626 11329626 single base substitution C A intron_variant MELA-AU 6 11329732 11329732 single base substitution G A intron_variant MELA-AU 6 11329964 11329964 single base substitution C T intron_variant MELA-AU 6 11330221 11330221 single base substitution C G intron_variant MELA-AU 6 11330548 11330548 single base substitution G A intron_variant MELA-AU 6 11331740 11331740 single base substitution C G intron_variant MELA-AU 6 11331980 11331980 single base substitution G A intron_variant MELA-AU 6 11332071 11332071 single base substitution G A intron_variant MELA-AU 6 11332149 11332149 single base substitution G A intron_variant MELA-AU 6 11332501 11332501 single base substitution G A intron_variant MELA-AU 6 11332711 11332711 single base substitution C T intron_variant MELA-AU 6 11332861 11332861 single base substitution T C intron_variant MELA-AU 6 11332992 11332992 single base substitution G C intron_variant MELA-AU 6 11333613 11333613 single base substitution C T intron_variant MELA-AU 6 11333981 11333981 single base substitution C A intron_variant MELA-AU 6 11334233 11334233 single base substitution C T intron_variant MELA-AU 6 11334377 11334377 single base substitution G A intron_variant MELA-AU 6 11334596 11334596 single base substitution G A intron_variant MELA-AU 6 11334767 11334767 single base substitution C T 5_prime_UTR_variant MELA-AU 6 11334767 11334767 single base substitution C T exon_variant MELA-AU 6 11334767 11334767 single base substitution C T intron_variant MELA-AU 6 11335519 11335519 single base substitution C G intron_variant MELA-AU 6 11336185 11336185 single base substitution C T intron_variant MELA-AU 6 11336283 11336283 single base substitution C T intron_variant MELA-AU 6 11336743 11336743 single base substitution G A intron_variant MELA-AU 6 11336852 11336852 single base substitution G A intron_variant MELA-AU 6 11337378 11337378 single base substitution G A intron_variant MELA-AU 6 11337930 11337930 single base substitution G A intron_variant MELA-AU 6 11337991 11337991 single base substitution G A intron_variant MELA-AU 6 11338298 11338298 single base substitution G A intron_variant MELA-AU 6 11338386 11338386 single base substitution G A intron_variant MELA-AU 6 11338394 11338394 single base substitution C T intron_variant MELA-AU 6 11338478 11338478 single base substitution G A intron_variant MELA-AU 6 11338569 11338569 single base substitution C T intron_variant MELA-AU 6 11338599 11338599 single base substitution C T intron_variant MELA-AU 6 11339108 11339108 single base substitution T G intron_variant MELA-AU 6 11339660 11339660 single base substitution A T intron_variant MELA-AU 6 11340006 11340006 single base substitution C T intron_variant MELA-AU 6 11340118 11340118 single base substitution T G intron_variant MELA-AU 6 11340221 11340221 single base substitution C T intron_variant MELA-AU 6 11340330 11340331 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11340367 11340367 single base substitution C T intron_variant MELA-AU 6 11340557 11340557 single base substitution C T intron_variant MELA-AU 6 11340668 11340668 single base substitution G A intron_variant MELA-AU 6 11340913 11340913 single base substitution G A intron_variant MELA-AU 6 11340974 11340974 single base substitution G A intron_variant MELA-AU 6 11341218 11341218 single base substitution C T intron_variant MELA-AU 6 11341383 11341383 single base substitution C T intron_variant MELA-AU 6 11341393 11341393 single base substitution C T intron_variant MELA-AU 6 11341589 11341589 single base substitution G A intron_variant MELA-AU 6 11341675 11341675 single base substitution C T intron_variant MELA-AU 6 11341680 11341680 single base substitution G A intron_variant MELA-AU 6 11341715 11341715 single base substitution G A intron_variant MELA-AU 6 11342322 11342322 single base substitution G A intron_variant MELA-AU 6 11342476 11342476 single base substitution G T intron_variant MELA-AU 6 11342484 11342484 single base substitution G A intron_variant MELA-AU 6 11342771 11342771 single base substitution C T intron_variant MELA-AU 6 11342799 11342799 single base substitution G A intron_variant MELA-AU 6 11342906 11342906 single base substitution G A intron_variant MELA-AU 6 11343183 11343183 single base substitution G A intron_variant MELA-AU 6 11343411 11343411 single base substitution C T intron_variant MELA-AU 6 11343933 11343933 single base substitution G A intron_variant MELA-AU 6 11344274 11344274 single base substitution G A intron_variant MELA-AU 6 11345034 11345034 single base substitution C T intron_variant MELA-AU 6 11345086 11345086 single base substitution C T intron_variant MELA-AU 6 11345135 11345135 single base substitution G A intron_variant MELA-AU 6 11345324 11345324 single base substitution G A intron_variant MELA-AU 6 11345337 11345337 single base substitution G A intron_variant MELA-AU 6 11345353 11345353 single base substitution G A intron_variant MELA-AU 6 11345405 11345405 single base substitution G A intron_variant MELA-AU 6 11345585 11345585 single base substitution G A intron_variant MELA-AU 6 11345902 11345902 single base substitution G A intron_variant MELA-AU 6 11346140 11346140 single base substitution C T intron_variant MELA-AU 6 11346198 11346198 single base substitution C T intron_variant MELA-AU 6 11346257 11346257 single base substitution C T intron_variant MELA-AU 6 11346265 11346265 single base substitution C T intron_variant MELA-AU 6 11346336 11346336 single base substitution T C intron_variant MELA-AU 6 11346564 11346564 single base substitution C T intron_variant MELA-AU 6 11346774 11346774 single base substitution G A intron_variant MELA-AU 6 11347148 11347148 single base substitution G A intron_variant MELA-AU 6 11347209 11347209 single base substitution C T intron_variant MELA-AU 6 11347216 11347216 single base substitution C T intron_variant MELA-AU 6 11347279 11347279 single base substitution C T intron_variant MELA-AU 6 11347415 11347415 single base substitution C T downstream_gene_variant MELA-AU 6 11347415 11347415 single base substitution C T intron_variant MELA-AU 6 11347443 11347443 single base substitution C T downstream_gene_variant MELA-AU 6 11347443 11347443 single base substitution C T intron_variant MELA-AU 6 11348736 11348736 single base substitution G A downstream_gene_variant MELA-AU 6 11348736 11348736 single base substitution G A intron_variant MELA-AU 6 11348758 11348758 single base substitution C T downstream_gene_variant MELA-AU 6 11348758 11348758 single base substitution C T intron_variant MELA-AU 6 11348803 11348803 single base substitution A T downstream_gene_variant MELA-AU 6 11348803 11348803 single base substitution A T intron_variant MELA-AU 6 11349091 11349091 single base substitution G A downstream_gene_variant MELA-AU 6 11349091 11349091 single base substitution G A intron_variant MELA-AU 6 11349642 11349642 single base substitution C T downstream_gene_variant MELA-AU 6 11349642 11349642 single base substitution C T intron_variant MELA-AU 6 11350013 11350013 single base substitution G A downstream_gene_variant MELA-AU 6 11350013 11350013 single base substitution G A intron_variant MELA-AU 6 11350023 11350023 single base substitution G A downstream_gene_variant MELA-AU 6 11350023 11350023 single base substitution G A intron_variant MELA-AU 6 11350084 11350084 single base substitution C T downstream_gene_variant MELA-AU 6 11350084 11350084 single base substitution C T intron_variant MELA-AU 6 11350156 11350156 single base substitution A T downstream_gene_variant MELA-AU 6 11350156 11350156 single base substitution A T intron_variant MELA-AU 6 11350221 11350221 single base substitution G A downstream_gene_variant MELA-AU 6 11350221 11350221 single base substitution G A intron_variant MELA-AU 6 11350251 11350251 single base substitution C T downstream_gene_variant MELA-AU 6 11350251 11350251 single base substitution C T intron_variant MELA-AU 6 11350370 11350370 single base substitution G A downstream_gene_variant MELA-AU 6 11350370 11350370 single base substitution G A intron_variant MELA-AU 6 11350416 11350416 single base substitution C T downstream_gene_variant MELA-AU 6 11350416 11350416 single base substitution C T intron_variant MELA-AU 6 11350472 11350472 single base substitution C T downstream_gene_variant MELA-AU 6 11350472 11350472 single base substitution C T intron_variant MELA-AU 6 11350507 11350507 single base substitution A C downstream_gene_variant MELA-AU 6 11350507 11350507 single base substitution A C intron_variant MELA-AU 6 11350948 11350948 single base substitution T C downstream_gene_variant MELA-AU 6 11350948 11350948 single base substitution T C intron_variant MELA-AU 6 11351084 11351084 single base substitution G A downstream_gene_variant MELA-AU 6 11351084 11351084 single base substitution G A intron_variant MELA-AU 6 11351387 11351387 single base substitution G A downstream_gene_variant MELA-AU 6 11351387 11351387 single base substitution G A intron_variant MELA-AU 6 11351511 11351511 single base substitution G A downstream_gene_variant MELA-AU 6 11351511 11351511 single base substitution G A intron_variant MELA-AU 6 11351591 11351591 single base substitution G A downstream_gene_variant MELA-AU 6 11351591 11351591 single base substitution G A intron_variant MELA-AU 6 11351594 11351594 single base substitution G A downstream_gene_variant MELA-AU 6 11351594 11351594 single base substitution G A intron_variant MELA-AU 6 11351603 11351603 single base substitution G A downstream_gene_variant MELA-AU 6 11351603 11351603 single base substitution G A intron_variant MELA-AU 6 11351752 11351752 single base substitution G A downstream_gene_variant MELA-AU 6 11351752 11351752 single base substitution G A intron_variant MELA-AU 6 11351801 11351801 single base substitution G A downstream_gene_variant MELA-AU 6 11351801 11351801 single base substitution G A intron_variant MELA-AU 6 11351931 11351931 single base substitution C T downstream_gene_variant MELA-AU 6 11351931 11351931 single base substitution C T intron_variant MELA-AU 6 11351981 11351981 single base substitution C T downstream_gene_variant MELA-AU 6 11351981 11351981 single base substitution C T intron_variant MELA-AU 6 11351992 11351993 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 11351992 11351993 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11351999 11351999 single base substitution C T downstream_gene_variant MELA-AU 6 11351999 11351999 single base substitution C T intron_variant MELA-AU 6 11352322 11352322 single base substitution C A downstream_gene_variant MELA-AU 6 11352322 11352322 single base substitution C A intron_variant MELA-AU 6 11352379 11352379 single base substitution G A downstream_gene_variant MELA-AU 6 11352379 11352379 single base substitution G A intron_variant MELA-AU 6 11352401 11352401 single base substitution C T exon_variant MELA-AU 6 11352401 11352401 single base substitution C T intron_variant MELA-AU 6 11353223 11353223 single base substitution C T intron_variant MELA-AU 6 11353230 11353231 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11353599 11353599 single base substitution G A intron_variant MELA-AU 6 11353704 11353704 single base substitution G A intron_variant MELA-AU 6 11353887 11353887 single base substitution C T intron_variant MELA-AU 6 11353969 11353969 single base substitution A G intron_variant MELA-AU 6 11354032 11354032 single base substitution G A intron_variant MELA-AU 6 11354243 11354243 single base substitution G A intron_variant MELA-AU 6 11354498 11354498 single base substitution C T intron_variant MELA-AU 6 11354562 11354562 single base substitution G A intron_variant MELA-AU 6 11354628 11354628 single base substitution G A intron_variant MELA-AU 6 11354762 11354762 single base substitution A T intron_variant MELA-AU 6 11354820 11354820 single base substitution G A intron_variant MELA-AU 6 11355061 11355061 single base substitution T A intron_variant MELA-AU 6 11355303 11355303 single base substitution G A intron_variant MELA-AU 6 11355315 11355315 single base substitution G A intron_variant MELA-AU 6 11355891 11355891 single base substitution G T intron_variant MELA-AU 6 11356017 11356017 single base substitution G A intron_variant MELA-AU 6 11356057 11356057 single base substitution C T intron_variant MELA-AU 6 11356167 11356167 single base substitution G A intron_variant MELA-AU 6 11356301 11356301 single base substitution G A intron_variant MELA-AU 6 11356412 11356413 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 6 11356500 11356501 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11356801 11356801 single base substitution C T intron_variant MELA-AU 6 11356861 11356861 single base substitution C T intron_variant MELA-AU 6 11356971 11356971 single base substitution C T intron_variant MELA-AU 6 11356979 11356979 single base substitution C T intron_variant MELA-AU 6 11357216 11357216 single base substitution T C intron_variant MELA-AU 6 11357247 11357247 single base substitution G A intron_variant MELA-AU 6 11357285 11357285 single base substitution C T intron_variant MELA-AU 6 11357318 11357318 single base substitution C T intron_variant MELA-AU 6 11357481 11357481 single base substitution C T intron_variant MELA-AU 6 11357541 11357541 single base substitution C T intron_variant MELA-AU 6 11357710 11357710 single base substitution G A intron_variant MELA-AU 6 11357991 11357991 single base substitution G A intron_variant MELA-AU 6 11358077 11358077 single base substitution C T intron_variant MELA-AU 6 11358092 11358092 single base substitution G T intron_variant MELA-AU 6 11358265 11358265 single base substitution G A intron_variant MELA-AU 6 11358278 11358278 single base substitution C T intron_variant MELA-AU 6 11358390 11358390 single base substitution G A intron_variant MELA-AU 6 11358436 11358436 single base substitution C T intron_variant MELA-AU 6 11358475 11358476 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11358609 11358609 single base substitution C T intron_variant MELA-AU 6 11358792 11358792 single base substitution G A intron_variant MELA-AU 6 11358956 11358956 single base substitution C T intron_variant MELA-AU 6 11359197 11359197 single base substitution C T intron_variant MELA-AU 6 11359318 11359318 single base substitution C T intron_variant MELA-AU 6 11359352 11359352 single base substitution G A intron_variant MELA-AU 6 11359421 11359421 single base substitution G A intron_variant MELA-AU 6 11359754 11359754 single base substitution T C intron_variant MELA-AU 6 11359780 11359780 single base substitution C T intron_variant MELA-AU 6 11359789 11359789 single base substitution C T intron_variant MELA-AU 6 11360096 11360096 single base substitution A C intron_variant MELA-AU 6 11360106 11360106 single base substitution C T intron_variant MELA-AU 6 11360126 11360126 single base substitution A C intron_variant MELA-AU 6 11360639 11360639 single base substitution C T intron_variant MELA-AU 6 11360656 11360656 single base substitution C T intron_variant MELA-AU 6 11360664 11360664 single base substitution C A intron_variant MELA-AU 6 11360664 11360664 single base substitution C T intron_variant MELA-AU 6 11360666 11360666 single base substitution C T intron_variant MELA-AU 6 11360752 11360752 single base substitution C T intron_variant MELA-AU 6 11360768 11360769 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11360864 11360864 single base substitution C T intron_variant MELA-AU 6 11360898 11360898 single base substitution C T intron_variant MELA-AU 6 11361013 11361013 single base substitution C T intron_variant MELA-AU 6 11361143 11361143 single base substitution G A intron_variant MELA-AU 6 11361172 11361172 single base substitution G A intron_variant MELA-AU 6 11361323 11361324 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11361334 11361334 single base substitution C T intron_variant MELA-AU 6 11361359 11361359 single base substitution G A intron_variant MELA-AU 6 11361574 11361574 single base substitution G A intron_variant MELA-AU 6 11361630 11361630 single base substitution G A intron_variant MELA-AU 6 11361663 11361663 single base substitution G A intron_variant MELA-AU 6 11361915 11361915 single base substitution G A intron_variant MELA-AU 6 11361928 11361928 single base substitution C T intron_variant MELA-AU 6 11362029 11362029 single base substitution G T intron_variant MELA-AU 6 11362064 11362064 single base substitution G A intron_variant MELA-AU 6 11362138 11362139 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 6 11362271 11362271 single base substitution C T intron_variant MELA-AU 6 11362323 11362324 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 11362330 11362330 single base substitution C T intron_variant MELA-AU 6 11362617 11362617 single base substitution C T intron_variant MELA-AU 6 11362963 11362963 single base substitution C T intron_variant MELA-AU 6 11363281 11363281 single base substitution C T intron_variant MELA-AU 6 11363528 11363528 single base substitution G A intron_variant MELA-AU 6 11363646 11363646 single base substitution T C intron_variant MELA-AU 6 11363817 11363817 single base substitution C T intron_variant MELA-AU 6 11363882 11363882 single base substitution G A intron_variant MELA-AU 6 11363963 11363963 single base substitution G A intron_variant MELA-AU 6 11364214 11364214 single base substitution C T intron_variant MELA-AU 6 11364398 11364398 single base substitution C T intron_variant MELA-AU 6 11364847 11364847 single base substitution G A intron_variant MELA-AU 6 11364863 11364863 single base substitution C T intron_variant MELA-AU 6 11365063 11365063 single base substitution G A intron_variant MELA-AU 6 11365124 11365124 single base substitution C T intron_variant MELA-AU 6 11365822 11365822 single base substitution C T intron_variant MELA-AU 6 11365870 11365870 single base substitution G A intron_variant MELA-AU 6 11366081 11366081 single base substitution G A intron_variant MELA-AU 6 11366099 11366099 single base substitution C T intron_variant MELA-AU 6 11366231 11366231 single base substitution G A intron_variant MELA-AU 6 11366237 11366237 single base substitution G A intron_variant MELA-AU 6 11366508 11366508 single base substitution G A intron_variant MELA-AU 6 11366605 11366605 single base substitution G A intron_variant MELA-AU 6 11366609 11366609 single base substitution G A intron_variant MELA-AU 6 11366615 11366615 single base substitution G A intron_variant MELA-AU 6 11366619 11366619 single base substitution G A intron_variant MELA-AU 6 11366652 11366652 single base substitution G A intron_variant MELA-AU 6 11367063 11367063 single base substitution C T intron_variant MELA-AU 6 11367220 11367220 single base substitution G A intron_variant MELA-AU 6 11367243 11367243 single base substitution T G intron_variant MELA-AU 6 11367514 11367514 single base substitution G A intron_variant MELA-AU 6 11367583 11367583 single base substitution G A intron_variant MELA-AU 6 11367592 11367592 single base substitution G A intron_variant MELA-AU 6 11368028 11368028 single base substitution C T intron_variant MELA-AU 6 11368081 11368081 single base substitution C T intron_variant MELA-AU 6 11368261 11368261 single base substitution C T intron_variant MELA-AU 6 11368780 11368780 single base substitution G A intron_variant MELA-AU 6 11368831 11368831 single base substitution G A intron_variant MELA-AU 6 11368910 11368910 single base substitution G A intron_variant MELA-AU 6 11368917 11368917 single base substitution C T intron_variant MELA-AU 6 11369025 11369025 single base substitution C T intron_variant MELA-AU 6 11369077 11369077 single base substitution C T intron_variant MELA-AU 6 11369399 11369399 single base substitution C T intron_variant MELA-AU 6 11369679 11369679 single base substitution G A intron_variant MELA-AU 6 11369876 11369876 single base substitution C T intron_variant MELA-AU 6 11370021 11370021 single base substitution T G intron_variant MELA-AU 6 11370328 11370328 single base substitution G A intron_variant MELA-AU 6 11370769 11370769 single base substitution C T intron_variant MELA-AU 6 11370963 11370963 single base substitution C T intron_variant MELA-AU 6 11371216 11371216 single base substitution G A intron_variant MELA-AU 6 11371231 11371231 single base substitution C T intron_variant MELA-AU 6 11371405 11371405 single base substitution C T intron_variant MELA-AU 6 11371544 11371544 single base substitution C T intron_variant MELA-AU 6 11371645 11371645 single base substitution C T intron_variant MELA-AU 6 11371672 11371672 single base substitution C T intron_variant MELA-AU 6 11371914 11371914 single base substitution C T intron_variant MELA-AU 6 11371965 11371965 single base substitution T C intron_variant MELA-AU 6 11371976 11371976 single base substitution C T intron_variant MELA-AU 6 11371984 11371984 single base substitution C T intron_variant MELA-AU 6 11371997 11371997 single base substitution C T intron_variant MELA-AU 6 11372083 11372083 single base substitution C T intron_variant MELA-AU 6 11372415 11372415 single base substitution C T intron_variant MELA-AU 6 11372639 11372639 single base substitution G A intron_variant MELA-AU 6 11372815 11372815 single base substitution C T intron_variant MELA-AU 6 11372841 11372841 single base substitution C T intron_variant MELA-AU 6 11373000 11373000 single base substitution C T intron_variant MELA-AU 6 11373028 11373028 single base substitution C T intron_variant MELA-AU 6 11373365 11373365 single base substitution G A intron_variant MELA-AU 6 11373385 11373385 single base substitution T C intron_variant MELA-AU 6 11373614 11373615 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11373643 11373643 single base substitution T C intron_variant MELA-AU 6 11373675 11373675 single base substitution G A intron_variant MELA-AU 6 11373810 11373810 single base substitution C T intron_variant MELA-AU 6 11373820 11373820 single base substitution G A intron_variant MELA-AU 6 11373840 11373840 single base substitution G A intron_variant MELA-AU 6 11374087 11374087 single base substitution C T intron_variant MELA-AU 6 11374297 11374297 single base substitution C A intron_variant MELA-AU 6 11374301 11374301 single base substitution A C intron_variant MELA-AU 6 11374587 11374587 single base substitution G A intron_variant MELA-AU 6 11375148 11375148 single base substitution T C intron_variant MELA-AU 6 11375190 11375190 single base substitution C T intron_variant MELA-AU 6 11375207 11375207 single base substitution C T intron_variant MELA-AU 6 11375302 11375302 single base substitution G A intron_variant MELA-AU 6 11375348 11375348 single base substitution C T intron_variant MELA-AU 6 11375727 11375727 single base substitution T G intron_variant MELA-AU 6 11375789 11375789 single base substitution G A intron_variant MELA-AU 6 11375798 11375798 single base substitution G A intron_variant MELA-AU 6 11376142 11376142 single base substitution C T intron_variant MELA-AU 6 11376156 11376156 single base substitution C T intron_variant MELA-AU 6 11376279 11376279 single base substitution G A intron_variant MELA-AU 6 11376292 11376292 single base substitution C T intron_variant MELA-AU 6 11376327 11376327 single base substitution G A intron_variant MELA-AU 6 11376551 11376551 single base substitution G A intron_variant MELA-AU 6 11376657 11376657 single base substitution G A intron_variant MELA-AU 6 11376750 11376750 single base substitution G A intron_variant MELA-AU 6 11376903 11376903 single base substitution G A intron_variant MELA-AU 6 11377426 11377426 single base substitution T C intron_variant MELA-AU 6 11377889 11377889 single base substitution G A intron_variant MELA-AU 6 11378003 11378003 single base substitution G A intron_variant MELA-AU 6 11378070 11378070 single base substitution G A intron_variant MELA-AU 6 11378158 11378158 single base substitution C T intron_variant MELA-AU 6 11378270 11378270 single base substitution G A intron_variant MELA-AU 6 11378463 11378463 single base substitution G A intron_variant MELA-AU 6 11378714 11378714 single base substitution G A intron_variant MELA-AU 6 11378853 11378853 single base substitution C T intron_variant MELA-AU 6 11379131 11379131 single base substitution C T intron_variant MELA-AU 6 11379857 11379857 single base substitution G A intron_variant MELA-AU 6 11379885 11379885 single base substitution C T intron_variant MELA-AU 6 11380234 11380234 single base substitution C T intron_variant MELA-AU 6 11380362 11380362 single base substitution G A intron_variant MELA-AU 6 11380460 11380460 single base substitution A G intron_variant MELA-AU 6 11380485 11380485 single base substitution T C intron_variant MELA-AU 6 11380516 11380516 single base substitution C T intron_variant MELA-AU 6 11380517 11380517 single base substitution G A intron_variant MELA-AU 6 11380546 11380546 single base substitution G A intron_variant MELA-AU 6 11380629 11380629 single base substitution G A intron_variant MELA-AU 6 11380710 11380710 single base substitution C T intron_variant MELA-AU 6 11380863 11380863 single base substitution C T intron_variant MELA-AU 6 11380930 11380930 single base substitution C T intron_variant MELA-AU 6 11381269 11381269 single base substitution G A intron_variant MELA-AU 6 11381315 11381316 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 11381463 11381463 single base substitution C T intron_variant MELA-AU 6 11381509 11381509 single base substitution C T intron_variant MELA-AU 6 11381700 11381700 single base substitution C T intron_variant MELA-AU 6 11381817 11381817 single base substitution G A intron_variant MELA-AU 6 11382398 11382398 single base substitution G A 5_prime_UTR_variant MELA-AU 6 11382398 11382398 single base substitution G A exon_variant MELA-AU 6 11382433 11382433 single base substitution G A 5_prime_UTR_variant MELA-AU 6 11382433 11382433 single base substitution G A exon_variant MELA-AU 6 11382533 11382533 single base substitution C T 5_prime_UTR_variant MELA-AU 6 11382533 11382533 single base substitution C T exon_variant MELA-AU 6 11382533 11382533 single base substitution C T upstream_gene_variant MELA-AU 6 11382590 11382590 single base substitution C T upstream_gene_variant MELA-AU 6 11382630 11382630 single base substitution C T upstream_gene_variant MELA-AU 6 11382769 11382769 single base substitution C T upstream_gene_variant MELA-AU 6 11382932 11382932 single base substitution G A upstream_gene_variant MELA-AU 6 11383139 11383139 single base substitution C G upstream_gene_variant MELA-AU 6 11383382 11383382 single base substitution C T upstream_gene_variant MELA-AU 6 11383934 11383934 single base substitution C T upstream_gene_variant MELA-AU 6 11384358 11384358 single base substitution C T upstream_gene_variant MELA-AU 6 11384380 11384380 single base substitution C T upstream_gene_variant MELA-AU 6 11384388 11384388 single base substitution C T upstream_gene_variant MELA-AU 6 11384519 11384519 single base substitution C T upstream_gene_variant MELA-AU 6 11384930 11384930 single base substitution G A upstream_gene_variant MELA-AU 6 11385134 11385134 single base substitution G A upstream_gene_variant MELA-AU 6 11386079 11386079 single base substitution C T upstream_gene_variant MELA-AU 6 11386172 11386172 single base substitution C T upstream_gene_variant MELA-AU 6 11386264 11386264 single base substitution T G upstream_gene_variant MELA-AU 6 11386726 11386726 single base substitution G A upstream_gene_variant MELA-AU 6 11387392 11387392 single base substitution G A upstream_gene_variant MELA-AU 6 11387416 11387416 single base substitution T C upstream_gene_variant MELA-AU 6 11387492 11387492 single base substitution C T upstream_gene_variant ORCA-IN 6 11185444 11185444 single base substitution C A 3_prime_UTR_variant ORCA-IN 6 11185444 11185444 single base substitution C A missense_variant R819I 2456G>T ORCA-IN 6 11185727 11185727 single base substitution C A 3_prime_UTR_variant ORCA-IN 6 11185727 11185727 single base substitution C A missense_variant A725S 2173G>T ORCA-IN 6 11223730 11223730 deletion of <=200bp C - intron_variant ORCA-IN 6 11242083 11242083 single base substitution C T intron_variant ORCA-IN 6 11260194 11260194 single base substitution G C intron_variant ORCA-IN 6 11267120 11267120 single base substitution G A downstream_gene_variant ORCA-IN 6 11267120 11267120 single base substitution G A intron_variant ORCA-IN 6 11289128 11289128 deletion of <=200bp G - intron_variant ORCA-IN 6 11291095 11291095 single base substitution C T intron_variant ORCA-IN 6 11294260 11294260 single base substitution G A intron_variant ORCA-IN 6 11303662 11303662 single base substitution C T downstream_gene_variant ORCA-IN 6 11303662 11303662 single base substitution C T intron_variant ORCA-IN 6 11316252 11316252 single base substitution G C intron_variant ORCA-IN 6 11342734 11342734 single base substitution G C intron_variant ORCA-IN 6 11366527 11366527 single base substitution G A intron_variant ORCA-IN 6 11373139 11373139 single base substitution T C intron_variant ORCA-IN 6 11380850 11380850 single base substitution G A intron_variant OV-AU 6 11182053 11182053 single base substitution T C downstream_gene_variant OV-AU 6 11189807 11189807 single base substitution A C downstream_gene_variant OV-AU 6 11189807 11189807 single base substitution A C intron_variant OV-AU 6 11196303 11196303 single base substitution C T downstream_gene_variant OV-AU 6 11196303 11196303 single base substitution C T intron_variant OV-AU 6 11196303 11196303 single base substitution C T upstream_gene_variant OV-AU 6 11197546 11197546 single base substitution C T downstream_gene_variant OV-AU 6 11197546 11197546 single base substitution C T intron_variant OV-AU 6 11197546 11197546 single base substitution C T upstream_gene_variant OV-AU 6 11200153 11200153 single base substitution G A 3_prime_UTR_variant OV-AU 6 11200153 11200153 single base substitution G A intron_variant OV-AU 6 11202232 11202232 single base substitution C G intron_variant OV-AU 6 11202532 11202532 single base substitution G C intron_variant OV-AU 6 11207071 11207071 single base substitution A G intron_variant OV-AU 6 11208899 11208899 single base substitution T A downstream_gene_variant OV-AU 6 11208899 11208899 single base substitution T A intron_variant OV-AU 6 11220044 11220044 single base substitution G T intron_variant OV-AU 6 11221470 11221470 single base substitution G A intron_variant OV-AU 6 11221975 11221975 single base substitution G T intron_variant OV-AU 6 11226535 11226535 single base substitution C A intron_variant OV-AU 6 11226742 11226742 single base substitution C A intron_variant OV-AU 6 11233090 11233090 single base substitution G C intron_variant OV-AU 6 11233090 11233090 single base substitution G C upstream_gene_variant OV-AU 6 11240332 11240332 single base substitution G A intron_variant OV-AU 6 11257208 11257208 single base substitution C G intron_variant OV-AU 6 11262539 11262539 single base substitution T G intron_variant OV-AU 6 11265799 11265799 single base substitution A C intron_variant OV-AU 6 11276382 11276382 single base substitution G C intron_variant OV-AU 6 11276905 11276905 single base substitution T C intron_variant OV-AU 6 11277611 11277611 single base substitution T C intron_variant OV-AU 6 11277839 11277839 single base substitution G A intron_variant OV-AU 6 11282271 11282271 single base substitution C A intron_variant OV-AU 6 11287288 11287288 single base substitution A G intron_variant OV-AU 6 11288317 11288317 single base substitution G C intron_variant OV-AU 6 11288318 11288318 single base substitution G T intron_variant OV-AU 6 11290760 11290760 single base substitution C G intron_variant OV-AU 6 11294272 11294272 single base substitution G A intron_variant OV-AU 6 11305330 11305330 single base substitution C A downstream_gene_variant OV-AU 6 11305330 11305330 single base substitution C A exon_variant OV-AU 6 11305330 11305330 single base substitution C A intron_variant OV-AU 6 11308568 11308568 single base substitution T A intron_variant OV-AU 6 11309266 11309266 single base substitution A G intron_variant OV-AU 6 11311761 11311761 single base substitution A T intron_variant OV-AU 6 11311762 11311762 single base substitution C G intron_variant OV-AU 6 11324151 11324151 single base substitution G A downstream_gene_variant OV-AU 6 11324151 11324151 single base substitution G A intron_variant OV-AU 6 11324874 11324874 single base substitution C T downstream_gene_variant OV-AU 6 11324874 11324874 single base substitution C T intron_variant OV-AU 6 11330695 11330695 single base substitution G A intron_variant OV-AU 6 11334267 11334267 single base substitution C A intron_variant OV-AU 6 11334268 11334268 single base substitution T A intron_variant OV-AU 6 11337176 11337176 single base substitution G T intron_variant OV-AU 6 11347331 11347331 single base substitution C T intron_variant OV-AU 6 11348733 11348733 single base substitution C T downstream_gene_variant OV-AU 6 11348733 11348733 single base substitution C T intron_variant OV-AU 6 11350114 11350114 single base substitution C A downstream_gene_variant OV-AU 6 11350114 11350114 single base substitution C A intron_variant OV-AU 6 11357041 11357041 single base substitution G A intron_variant OV-AU 6 11357042 11357042 single base substitution C A intron_variant OV-AU 6 11357156 11357156 single base substitution G T intron_variant OV-AU 6 11364635 11364635 single base substitution T G intron_variant OV-AU 6 11371165 11371165 single base substitution G A intron_variant OV-AU 6 11375390 11375390 single base substitution A T intron_variant OV-AU 6 11375455 11375455 single base substitution C A intron_variant OV-AU 6 11380464 11380464 single base substitution G A intron_variant OV-AU 6 11380465 11380465 single base substitution G T intron_variant OV-AU 6 11381365 11381365 single base substitution C A intron_variant OV-AU 6 11386244 11386244 single base substitution A T upstream_gene_variant PACA-AU 6 11180602 11180602 single base substitution A T downstream_gene_variant PACA-AU 6 11183505 11183505 single base substitution G A downstream_gene_variant PACA-AU 6 11184627 11184627 single base substitution G T 3_prime_UTR_variant PACA-AU 6 11184627 11184627 single base substitution G T downstream_gene_variant PACA-AU 6 11185210 11185210 single base substitution G A 3_prime_UTR_variant PACA-AU 6 11188104 11188104 single base substitution T G downstream_gene_variant PACA-AU 6 11188104 11188104 single base substitution T G intron_variant PACA-AU 6 11188323 11188323 single base substitution C T downstream_gene_variant PACA-AU 6 11188323 11188323 single base substitution C T intron_variant PACA-AU 6 11188612 11188612 single base substitution G T downstream_gene_variant PACA-AU 6 11188612 11188612 single base substitution G T intron_variant PACA-AU 6 11190803 11190803 single base substitution G A 3_prime_UTR_variant PACA-AU 6 11190803 11190803 single base substitution G A downstream_gene_variant PACA-AU 6 11190803 11190803 single base substitution G A synonymous_variant T433T 1299C>T PACA-AU 6 11204544 11204544 single base substitution A T intron_variant PACA-AU 6 11204808 11204808 single base substitution C A intron_variant PACA-AU 6 11211031 11211031 single base substitution A G downstream_gene_variant PACA-AU 6 11211031 11211031 single base substitution A G intron_variant PACA-AU 6 11215808 11215808 single base substitution G A intron_variant PACA-AU 6 11220789 11220789 single base substitution G A intron_variant PACA-AU 6 11230574 11230574 single base substitution G C intron_variant PACA-AU 6 11235035 11235035 single base substitution G A intron_variant PACA-AU 6 11235035 11235035 single base substitution G A upstream_gene_variant PACA-AU 6 11240178 11240178 single base substitution G C intron_variant PACA-AU 6 11249876 11249876 single base substitution G T downstream_gene_variant PACA-AU 6 11249876 11249876 single base substitution G T intron_variant PACA-AU 6 11255341 11255341 single base substitution T G intron_variant PACA-AU 6 11268005 11268005 deletion of <=200bp A - downstream_gene_variant PACA-AU 6 11268005 11268005 deletion of <=200bp A - intron_variant PACA-AU 6 11271229 11271229 single base substitution G A downstream_gene_variant PACA-AU 6 11271229 11271229 single base substitution G A intron_variant PACA-AU 6 11273550 11273550 single base substitution T A intron_variant PACA-AU 6 11273572 11273572 single base substitution G A intron_variant PACA-AU 6 11280637 11280637 single base substitution C A intron_variant PACA-AU 6 11291922 11291922 single base substitution G C intron_variant PACA-AU 6 11300197 11300197 single base substitution T C intron_variant PACA-AU 6 11307881 11307882 deletion of <=200bp AC - intron_variant PACA-AU 6 11309432 11309432 single base substitution G A intron_variant PACA-AU 6 11314705 11314705 single base substitution G T intron_variant PACA-AU 6 11314706 11314706 single base substitution G T intron_variant PACA-AU 6 11314979 11314979 single base substitution G A intron_variant PACA-AU 6 11331398 11331398 single base substitution C T intron_variant PACA-AU 6 11332405 11332405 single base substitution C A intron_variant PACA-AU 6 11340624 11340624 single base substitution C T intron_variant PACA-AU 6 11351175 11351175 single base substitution G A downstream_gene_variant PACA-AU 6 11351175 11351175 single base substitution G A intron_variant PACA-AU 6 11352345 11352345 single base substitution C T downstream_gene_variant PACA-AU 6 11352345 11352345 single base substitution C T intron_variant PACA-AU 6 11353820 11353820 single base substitution G C intron_variant PACA-AU 6 11357034 11357034 single base substitution T C intron_variant PACA-AU 6 11357055 11357055 single base substitution A G intron_variant PACA-AU 6 11364972 11364972 single base substitution A G intron_variant PACA-AU 6 11365284 11365284 single base substitution G A intron_variant PACA-AU 6 11367542 11367542 single base substitution G A intron_variant PACA-AU 6 11376665 11376665 single base substitution G A intron_variant PACA-AU 6 11378900 11378900 single base substitution T G intron_variant PACA-AU 6 11379141 11379141 single base substitution C A intron_variant PACA-AU 6 11381553 11381553 single base substitution C T intron_variant PACA-CA 6 11179465 11179465 single base substitution C T downstream_gene_variant PACA-CA 6 11186051 11186051 single base substitution T C intron_variant PACA-CA 6 11187300 11187300 single base substitution G C downstream_gene_variant PACA-CA 6 11187300 11187300 single base substitution G C intron_variant PACA-CA 6 11188689 11188689 single base substitution G C downstream_gene_variant PACA-CA 6 11188689 11188689 single base substitution G C intron_variant PACA-CA 6 11190803 11190803 single base substitution G A 3_prime_UTR_variant PACA-CA 6 11190803 11190803 single base substitution G A downstream_gene_variant PACA-CA 6 11190803 11190803 single base substitution G A synonymous_variant T433T 1299C>T PACA-CA 6 11191157 11191157 single base substitution G A 3_prime_UTR_variant PACA-CA 6 11191157 11191157 single base substitution G A exon_variant PACA-CA 6 11191157 11191157 single base substitution G A synonymous_variant D315D 945C>T PACA-CA 6 11191373 11191373 single base substitution G A 3_prime_UTR_variant PACA-CA 6 11191373 11191373 single base substitution G A exon_variant PACA-CA 6 11191373 11191373 single base substitution G A synonymous_variant F243F 729C>T PACA-CA 6 11194181 11194181 single base substitution C G downstream_gene_variant PACA-CA 6 11194181 11194181 single base substitution C G intron_variant PACA-CA 6 11194181 11194181 single base substitution C G upstream_gene_variant PACA-CA 6 11196642 11196642 single base substitution A T downstream_gene_variant PACA-CA 6 11196642 11196642 single base substitution A T intron_variant PACA-CA 6 11196642 11196642 single base substitution A T upstream_gene_variant PACA-CA 6 11197124 11197124 single base substitution C A downstream_gene_variant PACA-CA 6 11197124 11197124 single base substitution C A intron_variant PACA-CA 6 11197124 11197124 single base substitution C A upstream_gene_variant PACA-CA 6 11197275 11197275 single base substitution C T downstream_gene_variant PACA-CA 6 11197275 11197275 single base substitution C T intron_variant PACA-CA 6 11197275 11197275 single base substitution C T upstream_gene_variant PACA-CA 6 11201027 11201027 single base substitution A G 3_prime_UTR_variant PACA-CA 6 11201027 11201027 single base substitution A G intron_variant PACA-CA 6 11205795 11205795 single base substitution T C intron_variant PACA-CA 6 11210886 11210886 single base substitution A G downstream_gene_variant PACA-CA 6 11210886 11210886 single base substitution A G intron_variant PACA-CA 6 11217290 11217290 single base substitution A G intron_variant PACA-CA 6 11217876 11217876 single base substitution G A intron_variant PACA-CA 6 11223908 11223908 single base substitution C T intron_variant PACA-CA 6 11227715 11227715 insertion of <=200bp - A intron_variant PACA-CA 6 11228886 11228886 single base substitution A G intron_variant PACA-CA 6 11238451 11238451 single base substitution T G intron_variant PACA-CA 6 11240011 11240011 single base substitution G A intron_variant PACA-CA 6 11243581 11243581 single base substitution A G intron_variant PACA-CA 6 11246677 11246677 single base substitution C T downstream_gene_variant PACA-CA 6 11246677 11246677 single base substitution C T intron_variant PACA-CA 6 11253530 11253530 single base substitution C T intron_variant PACA-CA 6 11255980 11255980 single base substitution C T intron_variant PACA-CA 6 11259686 11259686 deletion of <=200bp G - intron_variant PACA-CA 6 11260384 11260384 single base substitution T C intron_variant PACA-CA 6 11261275 11261275 single base substitution C T intron_variant PACA-CA 6 11275798 11275798 single base substitution C T intron_variant PACA-CA 6 11284059 11284073 deletion of <=200bp CCAGGAGGGAGGGTT - intron_variant PACA-CA 6 11288303 11288303 insertion of <=200bp - A intron_variant PACA-CA 6 11290151 11290151 single base substitution G T intron_variant PACA-CA 6 11291483 11291483 insertion of <=200bp - GCAGAAATA intron_variant PACA-CA 6 11293460 11293460 single base substitution C A intron_variant PACA-CA 6 11293569 11293569 single base substitution C A intron_variant PACA-CA 6 11294149 11294149 single base substitution A G intron_variant PACA-CA 6 11294251 11294256 deletion of <=200bp TGTGTA - intron_variant PACA-CA 6 11295875 11295875 single base substitution C G intron_variant PACA-CA 6 11300575 11300575 single base substitution T C downstream_gene_variant PACA-CA 6 11300575 11300575 single base substitution T C intron_variant PACA-CA 6 11302837 11302837 single base substitution C T downstream_gene_variant PACA-CA 6 11302837 11302837 single base substitution C T intron_variant PACA-CA 6 11303539 11303539 single base substitution C T downstream_gene_variant PACA-CA 6 11303539 11303539 single base substitution C T intron_variant PACA-CA 6 11304059 11304059 single base substitution T A downstream_gene_variant PACA-CA 6 11304059 11304059 single base substitution T A intron_variant PACA-CA 6 11304931 11304931 single base substitution T A downstream_gene_variant PACA-CA 6 11304931 11304931 single base substitution T A intron_variant PACA-CA 6 11306650 11306650 single base substitution G A intron_variant PACA-CA 6 11307670 11307670 single base substitution C A intron_variant PACA-CA 6 11319682 11319687 deletion of <=200bp TACACA - intron_variant PACA-CA 6 11319810 11319813 deletion of <=200bp CACT - intron_variant PACA-CA 6 11319820 11319823 deletion of <=200bp AACG - intron_variant PACA-CA 6 11319911 11319920 deletion of <=200bp ACAAACATGG - intron_variant PACA-CA 6 11323329 11323329 single base substitution G C intron_variant PACA-CA 6 11326408 11326408 insertion of <=200bp - A downstream_gene_variant PACA-CA 6 11326408 11326408 insertion of <=200bp - A intron_variant PACA-CA 6 11329993 11329993 insertion of <=200bp - G intron_variant PACA-CA 6 11330838 11330838 single base substitution C A intron_variant PACA-CA 6 11331066 11331066 single base substitution G A intron_variant PACA-CA 6 11337102 11337102 single base substitution T C intron_variant PACA-CA 6 11344622 11344622 single base substitution G C intron_variant PACA-CA 6 11348347 11348347 deletion of <=200bp A - downstream_gene_variant PACA-CA 6 11348347 11348347 deletion of <=200bp A - intron_variant PACA-CA 6 11350280 11350280 single base substitution G C downstream_gene_variant PACA-CA 6 11350280 11350280 single base substitution G C intron_variant PACA-CA 6 11350586 11350586 single base substitution T C downstream_gene_variant PACA-CA 6 11350586 11350586 single base substitution T C intron_variant PACA-CA 6 11351336 11351336 single base substitution G C downstream_gene_variant PACA-CA 6 11351336 11351336 single base substitution G C intron_variant PACA-CA 6 11352028 11352041 deletion of <=200bp TAAAACTTATATTC - downstream_gene_variant PACA-CA 6 11352028 11352041 deletion of <=200bp TAAAACTTATATTC - intron_variant PACA-CA 6 11355585 11355585 single base substitution A T intron_variant PACA-CA 6 11359832 11359832 single base substitution T A intron_variant PACA-CA 6 11362042 11362042 single base substitution A C intron_variant PACA-CA 6 11362764 11362764 insertion of <=200bp - T intron_variant PACA-CA 6 11363135 11363135 single base substitution A G intron_variant PACA-CA 6 11372953 11372953 single base substitution G A intron_variant PACA-CA 6 11374297 11374297 single base substitution C A intron_variant PACA-CA 6 11374350 11374350 single base substitution T A intron_variant PACA-CA 6 11378475 11378475 insertion of <=200bp - A intron_variant PACA-CA 6 11381343 11381343 single base substitution G A intron_variant PACA-CA 6 11382108 11382108 single base substitution C T intron_variant PACA-CA 6 11385270 11385270 deletion of <=200bp T - upstream_gene_variant PAEN-AU 6 11296850 11296850 single base substitution C T intron_variant PAEN-AU 6 11319837 11319837 single base substitution T C intron_variant PAEN-AU 6 11366649 11366649 single base substitution A G intron_variant PAEN-AU 6 11382483 11382483 single base substitution C T 5_prime_UTR_variant PAEN-AU 6 11382483 11382483 single base substitution C T exon_variant PAEN-IT 6 11186452 11186452 single base substitution G A downstream_gene_variant PAEN-IT 6 11186452 11186452 single base substitution G A intron_variant PAEN-IT 6 11187110 11187110 single base substitution A G downstream_gene_variant PAEN-IT 6 11187110 11187110 single base substitution A G intron_variant PAEN-IT 6 11250978 11250978 single base substitution C A downstream_gene_variant PAEN-IT 6 11250978 11250978 single base substitution C A intron_variant PAEN-IT 6 11345459 11345459 single base substitution G T intron_variant PAEN-IT 6 11369275 11369275 single base substitution A T intron_variant PAEN-IT 6 11380303 11380303 single base substitution C A intron_variant PBCA-DE 6 11180417 11180417 single base substitution C T downstream_gene_variant PBCA-DE 6 11185386 11185386 single base substitution T C 3_prime_UTR_variant PBCA-DE 6 11185614 11185614 single base substitution C T 3_prime_UTR_variant PBCA-DE 6 11185614 11185614 single base substitution C T synonymous_variant T762T 2286G>A PBCA-DE 6 11185628 11185628 single base substitution A G 3_prime_UTR_variant PBCA-DE 6 11185628 11185628 single base substitution A G missense_variant F758L 2272T>C PBCA-DE 6 11197730 11197730 single base substitution A T downstream_gene_variant PBCA-DE 6 11197730 11197730 single base substitution A T intron_variant PBCA-DE 6 11197730 11197730 single base substitution A T upstream_gene_variant PBCA-DE 6 11201921 11201921 single base substitution A C intron_variant PBCA-DE 6 11222780 11222780 single base substitution G A intron_variant PBCA-DE 6 11222887 11222887 insertion of <=200bp - ATAT intron_variant PBCA-DE 6 11223242 11223243 deletion of <=200bp TG - intron_variant PBCA-DE 6 11228339 11228339 single base substitution G T intron_variant PBCA-DE 6 11230967 11230967 single base substitution A T intron_variant PBCA-DE 6 11242823 11242823 insertion of <=200bp - A intron_variant PBCA-DE 6 11258009 11258010 deletion of <=200bp TG - intron_variant PBCA-DE 6 11261128 11261129 deletion of <=200bp TG - intron_variant PBCA-DE 6 11262732 11262732 single base substitution G T intron_variant PBCA-DE 6 11262733 11262733 single base substitution G T intron_variant PBCA-DE 6 11262926 11262926 single base substitution A G intron_variant PBCA-DE 6 11269438 11269438 single base substitution A G downstream_gene_variant PBCA-DE 6 11269438 11269438 single base substitution A G intron_variant PBCA-DE 6 11269488 11269488 single base substitution C A downstream_gene_variant PBCA-DE 6 11269488 11269488 single base substitution C A intron_variant PBCA-DE 6 11271221 11271221 single base substitution G A downstream_gene_variant PBCA-DE 6 11271221 11271221 single base substitution G A intron_variant PBCA-DE 6 11280830 11280830 single base substitution C T intron_variant PBCA-DE 6 11287758 11287759 deletion of <=200bp CA - intron_variant PBCA-DE 6 11296904 11296904 single base substitution T C intron_variant PBCA-DE 6 11301288 11301288 single base substitution A C downstream_gene_variant PBCA-DE 6 11301288 11301288 single base substitution A C intron_variant PBCA-DE 6 11307866 11307867 deletion of <=200bp TA - intron_variant PBCA-DE 6 11320381 11320381 single base substitution C T intron_variant PBCA-DE 6 11322723 11322723 single base substitution G C intron_variant PBCA-DE 6 11324636 11324636 single base substitution G A downstream_gene_variant PBCA-DE 6 11324636 11324636 single base substitution G A intron_variant PBCA-DE 6 11326742 11326742 single base substitution G T downstream_gene_variant PBCA-DE 6 11326742 11326742 single base substitution G T intron_variant PBCA-DE 6 11327528 11327531 deletion of <=200bp ATCA - downstream_gene_variant PBCA-DE 6 11327528 11327531 deletion of <=200bp ATCA - intron_variant PBCA-DE 6 11329470 11329470 single base substitution G T intron_variant PBCA-DE 6 11331617 11331617 single base substitution T G intron_variant PBCA-DE 6 11344987 11344987 single base substitution C A intron_variant PBCA-DE 6 11345240 11345240 single base substitution G A intron_variant PBCA-DE 6 11347985 11347985 single base substitution T A downstream_gene_variant PBCA-DE 6 11347985 11347985 single base substitution T A intron_variant PBCA-DE 6 11355585 11355585 insertion of <=200bp - A intron_variant PBCA-DE 6 11359825 11359825 single base substitution A G intron_variant PBCA-DE 6 11363290 11363290 deletion of <=200bp A - intron_variant PBCA-DE 6 11366523 11366523 single base substitution G A intron_variant PBCA-DE 6 11369507 11369507 insertion of <=200bp - T intron_variant PBCA-DE 6 11373011 11373011 single base substitution T A intron_variant PBCA-DE 6 11375318 11375318 single base substitution A G intron_variant PBCA-DE 6 11379255 11379255 single base substitution G A intron_variant PBCA-DE 6 11379851 11379853 deletion of <=200bp CTT - intron_variant PBCA-DE 6 11381032 11381032 insertion of <=200bp - TCTTCT intron_variant PBCA-DE 6 11386362 11386362 single base substitution T A upstream_gene_variant PRAD-CA 6 11201414 11201414 single base substitution G A intron_variant PRAD-CA 6 11250448 11250448 single base substitution G T downstream_gene_variant PRAD-CA 6 11250448 11250448 single base substitution G T intron_variant PRAD-CA 6 11274431 11274431 single base substitution G C intron_variant PRAD-CA 6 11303446 11303446 single base substitution A G downstream_gene_variant PRAD-CA 6 11303446 11303446 single base substitution A G intron_variant PRAD-CA 6 11305497 11305497 single base substitution G A downstream_gene_variant PRAD-CA 6 11305497 11305497 single base substitution G A exon_variant PRAD-CA 6 11305497 11305497 single base substitution G A intron_variant PRAD-CA 6 11312926 11312926 single base substitution T A intron_variant PRAD-CA 6 11312927 11312927 single base substitution A T intron_variant PRAD-CA 6 11319766 11319766 single base substitution A C intron_variant PRAD-CA 6 11328386 11328386 single base substitution A T downstream_gene_variant PRAD-CA 6 11328386 11328386 single base substitution A T intron_variant PRAD-CA 6 11337042 11337042 single base substitution G A intron_variant PRAD-CA 6 11361995 11361995 single base substitution A T intron_variant PRAD-CA 6 11373555 11373555 single base substitution A C intron_variant PRAD-CA 6 11374299 11374299 single base substitution C A intron_variant PRAD-UK 6 11183688 11183688 single base substitution T G 3_prime_UTR_variant PRAD-UK 6 11183688 11183688 single base substitution T G downstream_gene_variant PRAD-UK 6 11191135 11191135 single base substitution C T 3_prime_UTR_variant PRAD-UK 6 11191135 11191135 single base substitution C T exon_variant PRAD-UK 6 11191135 11191135 single base substitution C T missense_variant V323I 967G>A PRAD-UK 6 11219746 11219746 single base substitution T A intron_variant PRAD-UK 6 11228826 11228826 single base substitution G C intron_variant PRAD-UK 6 11260543 11260543 single base substitution G C intron_variant PRAD-UK 6 11282438 11282438 single base substitution T C intron_variant PRAD-UK 6 11295406 11295406 single base substitution A C intron_variant PRAD-UK 6 11300081 11300081 single base substitution C T intron_variant PRAD-UK 6 11305926 11305926 single base substitution C T downstream_gene_variant PRAD-UK 6 11305926 11305926 single base substitution C T intron_variant PRAD-UK 6 11326190 11326190 single base substitution C A downstream_gene_variant PRAD-UK 6 11326190 11326190 single base substitution C A intron_variant PRAD-UK 6 11333817 11333817 single base substitution G T intron_variant PRAD-UK 6 11344410 11344410 single base substitution G C intron_variant PRAD-UK 6 11355448 11355448 single base substitution A G intron_variant PRAD-UK 6 11364863 11364863 single base substitution C A intron_variant PRAD-UK 6 11365478 11365478 single base substitution C T intron_variant PRAD-UK 6 11368345 11368345 single base substitution G A intron_variant PRAD-UK 6 11368732 11368732 single base substitution G C intron_variant PRAD-UK 6 11385006 11385006 single base substitution T C upstream_gene_variant PRAD-US 6 11185821 11185821 single base substitution T C 3_prime_UTR_variant PRAD-US 6 11185821 11185821 single base substitution T C synonymous_variant L693L 2079A>G PRAD-US 6 11191315 11191315 single base substitution T C 3_prime_UTR_variant PRAD-US 6 11191315 11191315 single base substitution T C exon_variant PRAD-US 6 11191315 11191315 single base substitution T C missense_variant I263V 787A>G READ-US 6 11185682 11185682 single base substitution G A 3_prime_UTR_variant READ-US 6 11185682 11185682 single base substitution G A stop_gained R740* 2218C>T RECA-EU 6 11182002 11182002 single base substitution G A downstream_gene_variant RECA-EU 6 11187589 11187589 single base substitution C T downstream_gene_variant RECA-EU 6 11187589 11187589 single base substitution C T intron_variant RECA-EU 6 11192153 11192153 single base substitution G A intron_variant RECA-EU 6 11204588 11204588 single base substitution A G intron_variant RECA-EU 6 11213312 11213312 single base substitution C A downstream_gene_variant RECA-EU 6 11213312 11213312 single base substitution C A intron_variant RECA-EU 6 11215430 11215430 single base substitution T G intron_variant RECA-EU 6 11217592 11217592 single base substitution A T intron_variant RECA-EU 6 11218854 11218854 single base substitution A T intron_variant RECA-EU 6 11220857 11220857 single base substitution C T intron_variant RECA-EU 6 11221199 11221199 single base substitution C T intron_variant RECA-EU 6 11224649 11224649 single base substitution T A intron_variant RECA-EU 6 11233896 11233896 single base substitution T G intron_variant RECA-EU 6 11233896 11233896 single base substitution T G upstream_gene_variant RECA-EU 6 11242438 11242438 single base substitution A C intron_variant RECA-EU 6 11258841 11258841 single base substitution A G intron_variant RECA-EU 6 11267695 11267695 single base substitution G T downstream_gene_variant RECA-EU 6 11267695 11267695 single base substitution G T intron_variant RECA-EU 6 11279220 11279220 single base substitution C T intron_variant RECA-EU 6 11292016 11292016 single base substitution G T intron_variant RECA-EU 6 11296221 11296221 single base substitution G A intron_variant RECA-EU 6 11296904 11296904 single base substitution T C intron_variant RECA-EU 6 11299558 11299558 single base substitution G A intron_variant RECA-EU 6 11308076 11308076 single base substitution T C intron_variant RECA-EU 6 11309650 11309650 single base substitution G A intron_variant RECA-EU 6 11321135 11321135 single base substitution C A intron_variant RECA-EU 6 11323962 11323962 single base substitution C T downstream_gene_variant RECA-EU 6 11323962 11323962 single base substitution C T intron_variant RECA-EU 6 11325375 11325375 single base substitution G C downstream_gene_variant RECA-EU 6 11325375 11325375 single base substitution G C intron_variant RECA-EU 6 11332568 11332568 single base substitution A C intron_variant RECA-EU 6 11333087 11333087 single base substitution C A intron_variant RECA-EU 6 11344097 11344097 single base substitution C G intron_variant RECA-EU 6 11344525 11344525 single base substitution A T intron_variant RECA-EU 6 11359099 11359099 single base substitution T C intron_variant RECA-EU 6 11364874 11364874 single base substitution G A intron_variant RECA-EU 6 11369175 11369175 single base substitution T G intron_variant RECA-EU 6 11374299 11374299 single base substitution C A intron_variant RECA-EU 6 11376010 11376010 single base substitution G T intron_variant RECA-EU 6 11376011 11376011 single base substitution C G intron_variant RECA-EU 6 11377858 11377858 single base substitution G T intron_variant SKCA-BR 6 11180588 11180588 single base substitution C T downstream_gene_variant SKCA-BR 6 11184312 11184312 single base substitution T C 3_prime_UTR_variant SKCA-BR 6 11184312 11184312 single base substitution T C downstream_gene_variant SKCA-BR 6 11188111 11188111 single base substitution C T downstream_gene_variant SKCA-BR 6 11188111 11188111 single base substitution C T intron_variant SKCA-BR 6 11189180 11189180 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 6 11189180 11189180 insertion of <=200bp - ATT intron_variant SKCA-BR 6 11189482 11189482 single base substitution G A downstream_gene_variant SKCA-BR 6 11189482 11189482 single base substitution G A intron_variant SKCA-BR 6 11190598 11190598 single base substitution T G 3_prime_UTR_variant SKCA-BR 6 11190598 11190598 single base substitution T G downstream_gene_variant SKCA-BR 6 11190598 11190598 single base substitution T G missense_variant T502P 1504A>C SKCA-BR 6 11194998 11194998 single base substitution G C downstream_gene_variant SKCA-BR 6 11194998 11194998 single base substitution G C intron_variant SKCA-BR 6 11194998 11194998 single base substitution G C upstream_gene_variant SKCA-BR 6 11195061 11195061 single base substitution C G downstream_gene_variant SKCA-BR 6 11195061 11195061 single base substitution C G intron_variant SKCA-BR 6 11195061 11195061 single base substitution C G upstream_gene_variant SKCA-BR 6 11196273 11196273 single base substitution C T downstream_gene_variant SKCA-BR 6 11196273 11196273 single base substitution C T intron_variant SKCA-BR 6 11196273 11196273 single base substitution C T upstream_gene_variant SKCA-BR 6 11196817 11196817 single base substitution T A downstream_gene_variant SKCA-BR 6 11196817 11196817 single base substitution T A intron_variant SKCA-BR 6 11196817 11196817 single base substitution T A upstream_gene_variant SKCA-BR 6 11196925 11196925 single base substitution A C downstream_gene_variant SKCA-BR 6 11196925 11196925 single base substitution A C intron_variant SKCA-BR 6 11196925 11196925 single base substitution A C upstream_gene_variant SKCA-BR 6 11198498 11198498 single base substitution C T downstream_gene_variant SKCA-BR 6 11198498 11198498 single base substitution C T intron_variant SKCA-BR 6 11200463 11200463 single base substitution G A 3_prime_UTR_variant SKCA-BR 6 11200463 11200463 single base substitution G A intron_variant SKCA-BR 6 11201520 11201520 single base substitution G A intron_variant SKCA-BR 6 11202558 11202561 deletion of <=200bp GGCT - intron_variant SKCA-BR 6 11202562 11202562 single base substitution T A intron_variant SKCA-BR 6 11214157 11214157 single base substitution A T intron_variant SKCA-BR 6 11219030 11219030 single base substitution C T intron_variant SKCA-BR 6 11220546 11220546 single base substitution A C intron_variant SKCA-BR 6 11221615 11221615 insertion of <=200bp - TA intron_variant SKCA-BR 6 11223700 11223700 single base substitution G A intron_variant SKCA-BR 6 11223772 11223772 single base substitution A C intron_variant SKCA-BR 6 11225554 11225554 single base substitution A T intron_variant SKCA-BR 6 11226483 11226483 single base substitution A C intron_variant SKCA-BR 6 11227328 11227328 single base substitution C T intron_variant SKCA-BR 6 11228223 11228223 single base substitution T C intron_variant SKCA-BR 6 11228307 11228307 single base substitution A G intron_variant SKCA-BR 6 11228657 11228657 single base substitution G C intron_variant SKCA-BR 6 11228663 11228663 single base substitution C T intron_variant SKCA-BR 6 11233003 11233003 single base substitution C T intron_variant SKCA-BR 6 11233003 11233003 single base substitution C T upstream_gene_variant SKCA-BR 6 11234164 11234164 single base substitution G C intron_variant SKCA-BR 6 11234164 11234164 single base substitution G C upstream_gene_variant SKCA-BR 6 11234728 11234728 single base substitution T A intron_variant SKCA-BR 6 11234728 11234728 single base substitution T A upstream_gene_variant SKCA-BR 6 11237135 11237135 single base substitution T C intron_variant SKCA-BR 6 11237135 11237135 single base substitution T C upstream_gene_variant SKCA-BR 6 11238835 11238835 single base substitution C T intron_variant SKCA-BR 6 11240386 11240386 single base substitution C T intron_variant SKCA-BR 6 11242947 11242947 single base substitution C T intron_variant SKCA-BR 6 11243136 11243136 single base substitution G A intron_variant SKCA-BR 6 11244636 11244636 single base substitution C T downstream_gene_variant SKCA-BR 6 11244636 11244636 single base substitution C T intron_variant SKCA-BR 6 11244969 11244969 single base substitution C T downstream_gene_variant SKCA-BR 6 11244969 11244969 single base substitution C T intron_variant SKCA-BR 6 11245623 11245623 single base substitution G A downstream_gene_variant SKCA-BR 6 11245623 11245623 single base substitution G A intron_variant SKCA-BR 6 11248525 11248525 single base substitution T G downstream_gene_variant SKCA-BR 6 11248525 11248525 single base substitution T G intron_variant SKCA-BR 6 11252092 11252092 single base substitution C T intron_variant SKCA-BR 6 11253366 11253366 single base substitution G C intron_variant SKCA-BR 6 11256923 11256923 single base substitution C T intron_variant SKCA-BR 6 11258008 11258010 deletion of <=200bp CTG - intron_variant SKCA-BR 6 11259956 11259956 single base substitution G A intron_variant SKCA-BR 6 11260168 11260168 insertion of <=200bp - AACACACACACACACACACAC intron_variant SKCA-BR 6 11260168 11260168 insertion of <=200bp - AACACACACACACACAC intron_variant SKCA-BR 6 11260194 11260194 single base substitution G C intron_variant SKCA-BR 6 11260204 11260204 single base substitution C T intron_variant SKCA-BR 6 11261691 11261691 single base substitution C T intron_variant SKCA-BR 6 11262036 11262036 single base substitution C T intron_variant SKCA-BR 6 11262339 11262339 single base substitution C T intron_variant SKCA-BR 6 11264591 11264591 single base substitution C T intron_variant SKCA-BR 6 11265147 11265147 single base substitution G A intron_variant SKCA-BR 6 11266503 11266503 single base substitution A G intron_variant SKCA-BR 6 11266765 11266765 single base substitution A G downstream_gene_variant SKCA-BR 6 11266765 11266765 single base substitution A G intron_variant SKCA-BR 6 11268961 11268961 insertion of <=200bp - CACAA downstream_gene_variant SKCA-BR 6 11268961 11268961 insertion of <=200bp - CACAA intron_variant SKCA-BR 6 11268975 11268979 deletion of <=200bp CACAG - downstream_gene_variant SKCA-BR 6 11268975 11268979 deletion of <=200bp CACAG - intron_variant SKCA-BR 6 11269325 11269325 single base substitution A T downstream_gene_variant SKCA-BR 6 11269325 11269325 single base substitution A T intron_variant SKCA-BR 6 11270600 11270601 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 6 11270600 11270601 deletion of <=200bp CT - intron_variant SKCA-BR 6 11272344 11272344 single base substitution C T intron_variant SKCA-BR 6 11273296 11273296 single base substitution G A intron_variant SKCA-BR 6 11273792 11273792 single base substitution T C intron_variant SKCA-BR 6 11273905 11273905 single base substitution G A intron_variant SKCA-BR 6 11275626 11275626 single base substitution G A intron_variant SKCA-BR 6 11276182 11276182 single base substitution C T intron_variant SKCA-BR 6 11277175 11277175 insertion of <=200bp - GAAACAAAC intron_variant SKCA-BR 6 11277395 11277395 single base substitution A C intron_variant SKCA-BR 6 11278072 11278072 single base substitution G A intron_variant SKCA-BR 6 11280325 11280325 single base substitution C T intron_variant SKCA-BR 6 11280339 11280339 single base substitution C T intron_variant SKCA-BR 6 11282796 11282796 single base substitution C T intron_variant SKCA-BR 6 11282846 11282846 single base substitution C G intron_variant SKCA-BR 6 11283775 11283775 single base substitution C T intron_variant SKCA-BR 6 11284137 11284137 single base substitution C T intron_variant SKCA-BR 6 11284205 11284205 single base substitution C T intron_variant SKCA-BR 6 11287513 11287513 single base substitution C T intron_variant SKCA-BR 6 11288230 11288230 single base substitution T A intron_variant SKCA-BR 6 11289034 11289034 single base substitution T C intron_variant SKCA-BR 6 11289306 11289306 single base substitution A G intron_variant SKCA-BR 6 11290523 11290523 single base substitution C T intron_variant SKCA-BR 6 11291520 11291520 single base substitution T A intron_variant SKCA-BR 6 11291705 11291705 single base substitution C T intron_variant SKCA-BR 6 11292696 11292696 single base substitution G A intron_variant SKCA-BR 6 11294945 11294945 single base substitution T C intron_variant SKCA-BR 6 11295667 11295667 single base substitution C T intron_variant SKCA-BR 6 11295669 11295669 single base substitution G A intron_variant SKCA-BR 6 11296784 11296784 single base substitution G A intron_variant SKCA-BR 6 11296842 11296842 single base substitution C T intron_variant SKCA-BR 6 11296884 11296889 deletion of <=200bp CTTCCT - intron_variant SKCA-BR 6 11297370 11297370 single base substitution T G intron_variant SKCA-BR 6 11297986 11297986 single base substitution C T intron_variant SKCA-BR 6 11297987 11297987 single base substitution C T intron_variant SKCA-BR 6 11298025 11298025 single base substitution T G intron_variant SKCA-BR 6 11298536 11298536 single base substitution A C intron_variant SKCA-BR 6 11299879 11299879 single base substitution G A intron_variant SKCA-BR 6 11300381 11300381 single base substitution A G downstream_gene_variant SKCA-BR 6 11300381 11300381 single base substitution A G intron_variant SKCA-BR 6 11301918 11301918 single base substitution C T downstream_gene_variant SKCA-BR 6 11301918 11301918 single base substitution C T intron_variant SKCA-BR 6 11302032 11302032 single base substitution G T downstream_gene_variant SKCA-BR 6 11302032 11302032 single base substitution G T intron_variant SKCA-BR 6 11302911 11302911 single base substitution G A downstream_gene_variant SKCA-BR 6 11302911 11302911 single base substitution G A intron_variant SKCA-BR 6 11302998 11302998 single base substitution C A downstream_gene_variant SKCA-BR 6 11302998 11302998 single base substitution C A intron_variant SKCA-BR 6 11303049 11303049 single base substitution C T downstream_gene_variant SKCA-BR 6 11303049 11303049 single base substitution C T intron_variant SKCA-BR 6 11304978 11304978 single base substitution G A downstream_gene_variant SKCA-BR 6 11304978 11304978 single base substitution G A intron_variant SKCA-BR 6 11306252 11306252 single base substitution G A 5_prime_UTR_variant SKCA-BR 6 11306252 11306252 single base substitution G A exon_variant SKCA-BR 6 11307614 11307614 single base substitution G A intron_variant SKCA-BR 6 11307620 11307620 single base substitution G A intron_variant SKCA-BR 6 11308522 11308522 single base substitution G A intron_variant SKCA-BR 6 11310613 11310613 single base substitution C T intron_variant SKCA-BR 6 11311102 11311102 single base substitution C T intron_variant SKCA-BR 6 11313724 11313724 single base substitution G A intron_variant SKCA-BR 6 11313784 11313784 single base substitution G A intron_variant SKCA-BR 6 11315081 11315081 insertion of <=200bp - TTCCTCTTTATTTG intron_variant SKCA-BR 6 11317957 11317957 single base substitution G A intron_variant SKCA-BR 6 11319753 11319753 insertion of <=200bp - GCACACT intron_variant SKCA-BR 6 11319854 11319854 single base substitution A G intron_variant SKCA-BR 6 11320011 11320011 single base substitution G A intron_variant SKCA-BR 6 11320143 11320143 single base substitution T G intron_variant SKCA-BR 6 11320562 11320562 single base substitution A G intron_variant SKCA-BR 6 11321179 11321179 single base substitution G A intron_variant SKCA-BR 6 11321400 11321400 single base substitution A C intron_variant SKCA-BR 6 11322122 11322122 single base substitution C T intron_variant SKCA-BR 6 11323378 11323378 single base substitution G A intron_variant SKCA-BR 6 11324110 11324110 single base substitution C T downstream_gene_variant SKCA-BR 6 11324110 11324110 single base substitution C T intron_variant SKCA-BR 6 11326702 11326702 single base substitution G A downstream_gene_variant SKCA-BR 6 11326702 11326702 single base substitution G A intron_variant SKCA-BR 6 11327336 11327336 single base substitution G A downstream_gene_variant SKCA-BR 6 11327336 11327336 single base substitution G A intron_variant SKCA-BR 6 11327692 11327692 single base substitution G A downstream_gene_variant SKCA-BR 6 11327692 11327692 single base substitution G A intron_variant SKCA-BR 6 11327943 11327943 single base substitution C T downstream_gene_variant SKCA-BR 6 11327943 11327943 single base substitution C T intron_variant SKCA-BR 6 11327944 11327944 single base substitution C T downstream_gene_variant SKCA-BR 6 11327944 11327944 single base substitution C T intron_variant SKCA-BR 6 11330683 11330683 single base substitution T G intron_variant SKCA-BR 6 11331170 11331170 single base substitution T C intron_variant SKCA-BR 6 11331624 11331624 single base substitution T G intron_variant SKCA-BR 6 11332885 11332885 single base substitution A G intron_variant SKCA-BR 6 11336299 11336299 single base substitution C T intron_variant SKCA-BR 6 11336927 11336927 single base substitution C T intron_variant SKCA-BR 6 11339221 11339221 single base substitution C A intron_variant SKCA-BR 6 11339879 11339879 single base substitution T G intron_variant SKCA-BR 6 11340724 11340724 single base substitution C T intron_variant SKCA-BR 6 11341125 11341125 single base substitution G A intron_variant SKCA-BR 6 11342376 11342376 single base substitution G A intron_variant SKCA-BR 6 11343771 11343771 single base substitution G A intron_variant SKCA-BR 6 11344095 11344095 single base substitution G A intron_variant SKCA-BR 6 11345240 11345240 single base substitution G A intron_variant SKCA-BR 6 11345734 11345734 single base substitution T C intron_variant SKCA-BR 6 11346222 11346222 single base substitution C T intron_variant SKCA-BR 6 11346637 11346637 single base substitution G A intron_variant SKCA-BR 6 11346710 11346710 insertion of <=200bp - GC intron_variant SKCA-BR 6 11347349 11347349 single base substitution C T intron_variant SKCA-BR 6 11347517 11347517 single base substitution C T downstream_gene_variant SKCA-BR 6 11347517 11347517 single base substitution C T intron_variant SKCA-BR 6 11347548 11347548 single base substitution G A downstream_gene_variant SKCA-BR 6 11347548 11347548 single base substitution G A intron_variant SKCA-BR 6 11349465 11349465 single base substitution C T downstream_gene_variant SKCA-BR 6 11349465 11349465 single base substitution C T intron_variant SKCA-BR 6 11349910 11349910 single base substitution C T downstream_gene_variant SKCA-BR 6 11349910 11349910 single base substitution C T intron_variant SKCA-BR 6 11356063 11356063 single base substitution C T intron_variant SKCA-BR 6 11356973 11356973 single base substitution T C intron_variant SKCA-BR 6 11358126 11358126 single base substitution T C intron_variant SKCA-BR 6 11359995 11359995 single base substitution G T intron_variant SKCA-BR 6 11360067 11360067 single base substitution C T intron_variant SKCA-BR 6 11360818 11360818 single base substitution C T intron_variant SKCA-BR 6 11361128 11361128 single base substitution G A intron_variant SKCA-BR 6 11364345 11364345 single base substitution C T intron_variant SKCA-BR 6 11366527 11366527 single base substitution G A intron_variant SKCA-BR 6 11366645 11366645 single base substitution G A intron_variant SKCA-BR 6 11368218 11368218 single base substitution T G intron_variant SKCA-BR 6 11369557 11369557 single base substitution A G intron_variant SKCA-BR 6 11373349 11373349 single base substitution C T intron_variant SKCA-BR 6 11374094 11374094 single base substitution C T intron_variant SKCA-BR 6 11374148 11374148 single base substitution C T intron_variant SKCA-BR 6 11374167 11374167 single base substitution G A intron_variant SKCA-BR 6 11375688 11375688 single base substitution C T intron_variant SKCA-BR 6 11377232 11377232 single base substitution A G intron_variant SKCA-BR 6 11379146 11379146 single base substitution T C intron_variant SKCA-BR 6 11379618 11379618 single base substitution C T intron_variant SKCA-BR 6 11380449 11380449 single base substitution C T intron_variant SKCA-BR 6 11380941 11380941 single base substitution G A intron_variant SKCA-BR 6 11381089 11381089 single base substitution T A intron_variant SKCA-BR 6 11381811 11381811 single base substitution A T intron_variant SKCA-BR 6 11382819 11382819 single base substitution C T upstream_gene_variant SKCA-BR 6 11383195 11383195 single base substitution C T upstream_gene_variant SKCA-BR 6 11384260 11384260 single base substitution C T upstream_gene_variant SKCM-US 6 11185769 11185771 deletion of <=200bp AGA - 3_prime_UTR_variant SKCM-US 6 11185769 11185771 deletion of <=200bp AGA - disruptive_inframe_deletion FY710Y SKCM-US 6 11191209 11191209 single base substitution G A 3_prime_UTR_variant SKCM-US 6 11191209 11191209 single base substitution G A exon_variant SKCM-US 6 11191209 11191209 single base substitution G A missense_variant S298F 893C>T SKCM-US 6 11191312 11191312 single base substitution G A 3_prime_UTR_variant SKCM-US 6 11191312 11191312 single base substitution G A exon_variant SKCM-US 6 11191312 11191312 single base substitution G A missense_variant P264S 790C>T SKCM-US 6 11191366 11191366 single base substitution G A 3_prime_UTR_variant SKCM-US 6 11191366 11191366 single base substitution G A exon_variant SKCM-US 6 11191366 11191366 single base substitution G A missense_variant P246S 736C>T SKCM-US 6 11191368 11191368 single base substitution G A 3_prime_UTR_variant SKCM-US 6 11191368 11191368 single base substitution G A exon_variant SKCM-US 6 11191368 11191368 single base substitution G A missense_variant P245L 734C>T SKCM-US 6 11213690 11213690 single base substitution G T 3_prime_UTR_variant SKCM-US 6 11213690 11213690 single base substitution G T downstream_gene_variant SKCM-US 6 11213690 11213690 single base substitution G T missense_variant P95T 283C>A STAD-US 6 11185718 11185718 single base substitution C T 3_prime_UTR_variant STAD-US 6 11185718 11185718 single base substitution C T missense_variant A728T 2182G>A STAD-US 6 11190367 11190367 single base substitution A G 3_prime_UTR_variant STAD-US 6 11190367 11190367 single base substitution A G downstream_gene_variant STAD-US 6 11190367 11190367 single base substitution A G missense_variant Y579H 1735T>C STAD-US 6 11190445 11190445 single base substitution C T 3_prime_UTR_variant STAD-US 6 11190445 11190445 single base substitution C T downstream_gene_variant STAD-US 6 11190445 11190445 single base substitution C T missense_variant A553T 1657G>A STAD-US 6 11190446 11190446 single base substitution G A 3_prime_UTR_variant STAD-US 6 11190446 11190446 single base substitution G A downstream_gene_variant STAD-US 6 11190446 11190446 single base substitution G A synonymous_variant N552N 1656C>T STAD-US 6 11190484 11190484 single base substitution C T 3_prime_UTR_variant STAD-US 6 11190484 11190484 single base substitution C T downstream_gene_variant STAD-US 6 11190484 11190484 single base substitution C T missense_variant D540N 1618G>A STAD-US 6 11190485 11190485 single base substitution G A 3_prime_UTR_variant STAD-US 6 11190485 11190485 single base substitution G A downstream_gene_variant STAD-US 6 11190485 11190485 single base substitution G A synonymous_variant P539P 1617C>T STAD-US 6 11190803 11190803 single base substitution G A 3_prime_UTR_variant STAD-US 6 11190803 11190803 single base substitution G A downstream_gene_variant STAD-US 6 11190803 11190803 single base substitution G A synonymous_variant T433T 1299C>T STAD-US 6 11191046 11191046 single base substitution C T 3_prime_UTR_variant STAD-US 6 11191046 11191046 single base substitution C T downstream_gene_variant STAD-US 6 11191046 11191046 single base substitution C T synonymous_variant P352P 1056G>A STAD-US 6 11191156 11191156 single base substitution C T 3_prime_UTR_variant STAD-US 6 11191156 11191156 single base substitution C T exon_variant STAD-US 6 11191156 11191156 single base substitution C T missense_variant A316T 946G>A STAD-US 6 11191199 11191199 single base substitution G A 3_prime_UTR_variant STAD-US 6 11191199 11191199 single base substitution G A exon_variant STAD-US 6 11191199 11191199 single base substitution G A synonymous_variant H301H 903C>T STAD-US 6 11191366 11191366 single base substitution G A 3_prime_UTR_variant STAD-US 6 11191366 11191366 single base substitution G A exon_variant STAD-US 6 11191366 11191366 single base substitution G A missense_variant P246S 736C>T STAD-US 6 11191400 11191400 single base substitution T C 3_prime_UTR_variant STAD-US 6 11191400 11191400 single base substitution T C exon_variant STAD-US 6 11191400 11191400 single base substitution T C synonymous_variant A234A 702A>G STAD-US 6 11192590 11192590 single base substitution C T 3_prime_UTR_variant STAD-US 6 11192590 11192590 single base substitution C T exon_variant STAD-US 6 11192590 11192590 single base substitution C T synonymous_variant P217P 651G>A STAD-US 6 11193859 11193859 single base substitution C T 3_prime_UTR_variant STAD-US 6 11193859 11193859 single base substitution C T downstream_gene_variant STAD-US 6 11193859 11193859 single base substitution C T missense_variant V176I 526G>A STAD-US 6 11193859 11193859 single base substitution C T upstream_gene_variant STAD-US 6 11193914 11193914 single base substitution G A 3_prime_UTR_variant STAD-US 6 11193914 11193914 single base substitution G A downstream_gene_variant STAD-US 6 11193914 11193914 single base substitution G A synonymous_variant P157P 471C>T STAD-US 6 11193914 11193914 single base substitution G A upstream_gene_variant STAD-US 6 11213531 11213531 single base substitution G A 3_prime_UTR_variant STAD-US 6 11213531 11213531 single base substitution G A downstream_gene_variant STAD-US 6 11213531 11213531 single base substitution G A missense_variant P148S 442C>T UCEC-US 6 11185649 11185649 single base substitution G T 3_prime_UTR_variant UCEC-US 6 11185649 11185649 single base substitution G T missense_variant L751I 2251C>A UCEC-US 6 11190389 11190389 single base substitution C A 3_prime_UTR_variant UCEC-US 6 11190389 11190389 single base substitution C A downstream_gene_variant UCEC-US 6 11190389 11190389 single base substitution C A missense_variant E571D 1713G>T UCEC-US 6 11190845 11190845 single base substitution G A 3_prime_UTR_variant UCEC-US 6 11190845 11190845 single base substitution G A downstream_gene_variant UCEC-US 6 11190845 11190845 single base substitution G A synonymous_variant A419A 1257C>T UCEC-US 6 11191135 11191135 single base substitution C T 3_prime_UTR_variant UCEC-US 6 11191135 11191135 single base substitution C T exon_variant UCEC-US 6 11191135 11191135 single base substitution C T missense_variant V323I 967G>A UCEC-US 6 11191425 11191425 single base substitution G A 3_prime_UTR_variant UCEC-US 6 11191425 11191425 single base substitution G A exon_variant UCEC-US 6 11191425 11191425 single base substitution G A missense_variant P226L 677C>T UCEC-US 6 11193886 11193886 single base substitution C T 3_prime_UTR_variant UCEC-US 6 11193886 11193886 single base substitution C T downstream_gene_variant UCEC-US 6 11193886 11193886 single base substitution C T missense_variant E167K 499G>A UCEC-US 6 11193886 11193886 single base substitution C T upstream_gene_variant UCEC-US 6 11213561 11213561 single base substitution C A 3_prime_UTR_variant UCEC-US 6 11213561 11213561 single base substitution C A downstream_gene_variant UCEC-US 6 11213561 11213561 single base substitution C A missense_variant V138L 412G>T UCEC-US 6 11213813 11213813 single base substitution T C 3_prime_UTR_variant UCEC-US 6 11213813 11213813 single base substitution T C downstream_gene_variant UCEC-US 6 11213813 11213813 single base substitution T C missense_variant I54V 160A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-114 COSM1258945 c.1045C>T p.L349L Substitution - coding silent 6:11190824-11190824 - TCGA-HU-A4GX-01 COSM3857623 c.651G>A p.P217P Substitution - coding silent 6:11192357-11192357 - AML_14y_08_DX COSM5956854 c.1930C>T p.Q644* Substitution - Nonsense 6:11188283-11188283 - TCGA-A8-A09A-01 COSM5835091 c.74G>A p.R25H Substitution - Missense 6:11213666-11213666 - TCGA-AZ-4615-01 COSM5830227 c.134T>C p.L45P Substitution - Missense 6:11213606-11213606 - TCGA-AG-A01Y-01 COSM290268 c.729C>T p.F243F Substitution - coding silent 6:11191140-11191140 - TCGA-C8-A26Y-01 COSM3828827 c.2328C>T p.V776V Substitution - coding silent 6:11185339-11185339 - HT115 COSM3156404 c.2033A>C p.K678T Substitution - Missense 6:11185634-11185634 - MDA-N COSM1672237 c.532G>A p.D178N Substitution - Missense 6:11193620-11193620 - MDA-MB-435 COSM1672237 c.532G>A p.D178N Substitution - Missense 6:11193620-11193620 - 587256 COSM1217020 c.2290A>G p.T764A Substitution - Missense 6:11185377-11185377 - TCGA-GF-A6C9-06 COSM3857617 c.736C>T p.P246S Substitution - Missense 6:11191133-11191133 - B85-0-Tumor COSM1754437 c.1962G>A p.M654I Substitution - Missense 6:11188251-11188251 - 115 COSM5011574 c.2291C>T p.T764I Substitution - Missense 6:11185376-11185376 - CRC-06T COSM1072223 c.2251C>A p.L751I Substitution - Missense 6:11185416-11185416 - TCGA-F4-6856-01 COSM1439922 c.1056G>A p.P352P Substitution - coding silent 6:11190813-11190813 - PTC-54C COSM3927826 c.1504A>C p.T502P Substitution - Missense 6:11190365-11190365 - TCGA-HU-A4GT-01 COSM3857603 c.1618G>A p.D540N Substitution - Missense 6:11190251-11190251 - TCGA-AD-6965-01 COSM1439907 c.2352C>T p.C784C Substitution - coding silent 6:11185315-11185315 - PCSI_0020_Pa_X COSM290268 c.729C>T p.F243F Substitution - coding silent 6:11191140-11191140 - TCGA-BR-8382-01 COSM3857626 c.526G>A p.V176I Substitution - Missense 6:11193626-11193626 - CSCC-60-T COSM4472422 c.1782C>A p.H594Q Substitution - Missense 6:11190087-11190087 - TCGA-B5-A11E-01 COSM1072266 c.160A>G p.I54V Substitution - Missense 6:11213580-11213580 - TCGA-A6-6780-01 COSM1439910 c.2229G>A p.V743V Substitution - coding silent 6:11185438-11185438 - PT52 COSM5939563 c.793C>T p.P265S Substitution - Missense 6:11191076-11191076 - PD8977a COSM5779264 c.1471C>T p.R491* Substitution - Nonsense 6:11190398-11190398 - CSCC-55-T COSM4537403 c.2416G>A p.A806T Substitution - Missense 6:11185251-11185251 - H358 COSM1194112 c.2472C>G p.F824L Substitution - Missense 6:11185195-11185195 - MO_1012 COSM5554729 c.477G>A p.G159G Substitution - coding silent 6:11201029-11201029 - pfg019T COSM1642829 c.2001C>T p.S667S Substitution - coding silent 6:11185666-11185666 - TARGET-30-PATGWT COSM1286553 c.962G>T p.R321L Substitution - Missense 6:11190907-11190907 - TCGA-HU-A4H4-01 COSM3857620 c.702A>G p.A234A Substitution - coding silent 6:11191167-11191167 - TCGA-G4-6588-01 COSM1439928 c.679C>T p.P227S Substitution - Missense 6:11191190-11191190 - RK046_C02 COSM1634439 c.733C>G p.P245A Substitution - Missense 6:11191136-11191136 - CHC1207T COSM4800094 c.959C>T p.P320L Substitution - Missense 6:11190910-11190910 - TCGA-AA-3715-01 COSM180823 c.2392G>A p.A798T Substitution - Missense 6:11185275-11185275 - ESCC_BICR_042T COSM5191449 c.2173G>A p.A725T Substitution - Missense 6:11185494-11185494 - TCGA-D1-A16Q-01 COSM1072263 c.334T>A p.Y112N Substitution - Missense 6:11213406-11213406 - TCGA-D8-A27G-01 COSM3828839 c.1157C>T p.S386F Substitution - Missense 6:11190712-11190712 - EGC15 COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - TCGA-BH-A0BT-01 COSM450348 c.499G>A p.E167K Substitution - Missense 6:11193653-11193653 - ESCC_BICR_044T COSM5439949 c.176G>A p.R59Q Substitution - Missense 6:11213564-11213564 - I2L-P10-Tumor-Organoid COSM5357122 c.372C>T p.H124H Substitution - coding silent 6:11213368-11213368 - TCGA-AZ-4315-01 COSM1439937 c.419G>T p.R140I Substitution - Missense 6:11213321-11213321 - TCGA-IH-A3EA-01 COSM3619578 c.893C>T p.S298F Substitution - Missense 6:11190976-11190976 - LC_C4 COSM1186958 c.962G>A p.R321Q Substitution - Missense 6:11190907-11190907 - Au4 COSM5604210 c.559G>A p.G187R Substitution - Missense 6:11193593-11193593 - 46M COSM5588431 c.361C>T p.P121S Substitution - Missense 6:11213379-11213379 - PD11369a COSM5789977 c.1622A>T p.D541V Substitution - Missense 6:11190247-11190247 - TCGA-E9-A1RH-01 COSM3828833 c.1730C>T p.T577M Substitution - Missense 6:11190139-11190139 - 522_T COSM3947896 c.894C>T p.S298S Substitution - coding silent 6:11190975-11190975 - T3021 COSM4706339 c.1759C>T p.Q587* Substitution - Nonsense 6:11190110-11190110 - TCGA-CA-6717-01 COSM5830223 c.456A>G p.K152K Substitution - coding silent 6:11213284-11213284 - TCGA-D8-A1JG-01 COSM1487138 c.1080C>G p.D360E Substitution - Missense 6:11190789-11190789 - TCGA-CG-5723-01 COSM3857617 c.736C>T p.P246S Substitution - Missense 6:11191133-11191133 - TCGA-AP-A059-01 COSM1072237 c.1257C>T p.A419A Substitution - coding silent 6:11190612-11190612 - RKO COSM3156374 c.2480C>T p.S827F Substitution - Missense 6:11185187-11185187 - TCGA-BH-A1ET-01 COSM450342 c.967G>A p.V323I Substitution - Missense 6:11190902-11190902 - EGC3 COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - 46M COSM5588433 c.361C>T p.P121S Substitution - Missense 6:11213379-11213379 - TCGA-D8-A3Z5-01 COSM3828824 c.2378C>A p.A793E Substitution - Missense 6:11185289-11185289 - TCGA-AM-5820-01 COSM5830226 c.141A>G p.S47S Substitution - coding silent 6:11213599-11213599 - 46M COSM5588435 c.2429T>C p.M810T Substitution - Missense 6:11185238-11185238 - CSCC-55-T COSM4515289 c.1022_1023GG>AA p.R341K Substitution - Missense 6:11190846-11190847 - I2L-P19Tb-Tumor-Organoid COSM5357399 c.1768C>T p.H590Y Substitution - Missense 6:11190101-11190101 - Pat_15_A COSM5869115 c.2113C>T p.R705W Substitution - Missense 6:11185554-11185554 - TCGA-FW-A3R5-06 COSM3920602 c.790C>T p.P264S Substitution - Missense 6:11191079-11191079 - sysucc-1397T COSM5474863 c.1055C>T p.P352L Substitution - Missense 6:11190814-11190814 - TCGA-B5-A11E-01 COSM1072260 c.412G>T p.V138L Substitution - Missense 6:11213328-11213328 - CHEWS034 COSM4586154 c.1128C>G p.T376T Substitution - coding silent 6:11190741-11190741 - B85-0 COSM1754437 c.1962G>A p.M654I Substitution - Missense 6:11188251-11188251 - T3080 COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - T3174 COSM4706345 c.231T>C p.P77P Substitution - coding silent 6:11213509-11213509 - TCGA-D1-A16X-01 COSM450342 c.967G>A p.V323I Substitution - Missense 6:11190902-11190902 - TCGA-BR-8372-01 COSM3857629 c.471C>T p.P157P Substitution - coding silent 6:11193681-11193681 - TCGA-CA-6717-01 COSM1439931 c.456A>G p.K152K Substitution - coding silent 6:11213284-11213284 - TCGA-AA-3866-01 COSM290268 c.729C>T p.F243F Substitution - coding silent 6:11191140-11191140 - TCGA-G4-6586-01 COSM5830224 c.431delG p.G144fs*22 Deletion - Frameshift 6:11213309-11213309 - GC_364T-GC_364N COSM4772677 c.460-9C>G p.? Unknown 6:11193701-11193701 - PT08_1 COSM5893151 c.1772C>T p.P591L Substitution - Missense 6:11190097-11190097 - PD9604a COSM3857600 c.1735T>C p.Y579H Substitution - Missense 6:11190134-11190134 - TCGA-AZ-4315-01 COSM5830225 c.419G>T p.R140I Substitution - Missense 6:11213321-11213321 - TCGA-E7-A3Y1-01 COSM3777024 c.1755G>A p.Q585Q Substitution - coding silent 6:11190114-11190114 - TCGA-AP-A051-01 COSM1072234 c.1713G>T p.E571D Substitution - Missense 6:11190156-11190156 - CHC1207T COSM4800094 c.959C>T p.P320L Substitution - Missense 6:11190910-11190910 - TCGA-BR-6452-01 COSM180825 c.946G>A p.A316T Substitution - Missense 6:11190923-11190923 - SH-0622 COSM5018808 c.458delA p.K153fs*2 Deletion - Frameshift 6:11213282-11213282 - SNUH_G10_S1 COSM3761438 c.141A>G p.S47S Substitution - coding silent 6:11213599-11213599 - WM3211 COSM3727405 c.124G>A p.G42R Substitution - Missense 6:11213616-11213616 - TCGA-BR-8059-01 COSM3857606 c.1617C>T p.P539P Substitution - coding silent 6:11190252-11190252 - BN41 COSM1620785 c.1971C>A p.N657K Substitution - Missense 6:11188242-11188242 - 8070208 COSM3857609 c.1299C>T p.T433T Substitution - coding silent 6:11190570-11190570 - TCGA-A6-6140-01 COSM3761433 c.2367C>T p.T789T Substitution - coding silent 6:11185300-11185300 - 92 COSM5014562 c.1097A>G p.N366S Substitution - Missense 6:11190772-11190772 - TCGA-DK-A2I4-01 COSM3777027 c.1389C>G p.L463L Substitution - coding silent 6:11190480-11190480 - TCGA-AZ-4315-01 COSM1439913 c.2055G>A p.S685S Substitution - coding silent 6:11185612-11185612 - TCGA-A5-A0VP-01 COSM1072223 c.2251C>A p.L751I Substitution - Missense 6:11185416-11185416 - NB-2116 COSM1286559 c.2238C>A p.S746R Substitution - Missense 6:11185429-11185429 - CSCC-49-T COSM4477570 c.2164C>T p.L722F Substitution - Missense 6:11185503-11185503 - pfg057T COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - TCGA-EE-A17X-06 COSM3619593 c.283C>A p.P95T Substitution - Missense 6:11213457-11213457 - TCGA-G2-A2EO-01 COSM1311474 c.1455G>A p.M485I Substitution - Missense 6:11190414-11190414 - TCGA-66-2781-01 COSM739624 c.1733A>T p.E578V Substitution - Missense 6:11190136-11190136 - T3094 COSM4706342 c.1127C>G p.T376S Substitution - Missense 6:11190742-11190742 - TCGA-AZ-4615-01 COSM3697456 c.134T>C p.L45P Substitution - Missense 6:11213606-11213606 - TCGA-BR-6566-01 COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - TCGA-AA-A010-01 COSM283184 c.568G>A p.D190N Substitution - Missense 6:11192440-11192440 - Pat_15_B COSM5869115 c.2113C>T p.R705W Substitution - Missense 6:11185554-11185554 - TCGA-BR-4184-01 COSM1696929 c.1657G>A p.A553T Substitution - Missense 6:11190212-11190212 - TCGA-22-4593-01 COSM739622 c.1300G>T p.D434Y Substitution - Missense 6:11190569-11190569 - ESCC_137 COSM5643173 c.875G>A p.R292Q Substitution - Missense 6:11190994-11190994 - LS411 COSM4646752 c.947C>T p.A316V Substitution - Missense 6:11190922-11190922 - TCGA-AP-A0LT-01 COSM1072248 c.677C>T p.P226L Substitution - Missense 6:11191192-11191192 - I2L-P19Tb-Tumor-Biopsy COSM5357399 c.1768C>T p.H590Y Substitution - Missense 6:11190101-11190101 - TCGA-BH-A0HF-01 COSM3828830 c.1731G>A p.T577T Substitution - coding silent 6:11190138-11190138 - TCGA-CJ-6027-01 COSM483285 c.425T>C p.I142T Substitution - Missense 6:11213315-11213315 - OSCC-GB_01010111 COSM4882276 c.2173G>T p.A725S Substitution - Missense 6:11185494-11185494 - pfg068T COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - P52 COSM329057 c.1184C>T p.S395F Substitution - Missense 6:11190685-11190685 - TCGA-CG-5721-01 COSM3857600 c.1735T>C p.Y579H Substitution - Missense 6:11190134-11190134 - 0071_CRUK_PC_0071_T1_DNA COSM450342 c.967G>A p.V323I Substitution - Missense 6:11190902-11190902 - TCGA-BR-4370-01 COSM3857609 c.1299C>T p.T433T Substitution - coding silent 6:11190570-11190570 - M14 COSM1672237 c.532G>A p.D178N Substitution - Missense 6:11193620-11193620 - TCGA-CG-4469-01 COSM3156460 c.1656C>T p.N552N Substitution - coding silent 6:11190213-11190213 - TCGA-AA-3510-01 COSM1439913 c.2055G>A p.S685S Substitution - coding silent 6:11185612-11185612 - TCGA-FJ-A3Z7-01 COSM3777021 c.2296C>T p.Q766* Substitution - Nonsense 6:11185371-11185371 - ICGC_MB121 COSM3765224 c.2272T>C p.F758L Substitution - Missense 6:11185395-11185395 - PTC-28C COSM4160129 c.1642A>T p.T548S Substitution - Missense 6:11190227-11190227 - PR-00-1165 COSM245994 c.152G>A p.R51Q Substitution - Missense 6:11213588-11213588 - 587224 COSM1217017 c.326C>A p.P109Q Substitution - Missense 6:11213414-11213414 - TCGA-CG-4465-01 COSM1439922 c.1056G>A p.P352P Substitution - coding silent 6:11190813-11190813 - TCGA-AR-A0U1-01 COSM450340 c.1790A>T p.Q597L Substitution - Missense 6:11190079-11190079 - sysucc-880T COSM5463482 c.1996-7C>A p.? Unknown 6:11185678-11185678 - YUKLAB COSM1696929 c.1657G>A p.A553T Substitution - Missense 6:11190212-11190212 - TCGA-A6-5665-01 COSM1439925 c.734delC p.P245fs*3 Deletion - Frameshift 6:11191135-11191135 - TCGA-BR-4191-01 COSM3857612 c.903C>T p.H301H Substitution - coding silent 6:11190966-11190966 - TCGA-A8-A09A-01 COSM450350 c.74G>A p.R25H Substitution - Missense 6:11213666-11213666 - 35M COSM5581834 c.1890T>A p.D630E Substitution - Missense 6:11189979-11189979 - PASLZM COSM5006420 c.1472G>A p.R491Q Substitution - Missense 6:11190397-11190397 - TCGA-F1-6177-01 COSM180825 c.946G>A p.A316T Substitution - Missense 6:11190923-11190923 - CCK81 COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - TCGA-AC-A23H-01 COSM3828836 c.1671C>T p.F557F Substitution - coding silent 6:11190198-11190198 - OSCC-GB_01060111 COSM4882805 c.2456G>T p.R819I Substitution - Missense 6:11185211-11185211 - TCGA-D5-6540-01 COSM1439919 c.1401G>T p.K467N Substitution - Missense 6:11190468-11190468 - TCGA-KK-A59V-01 COSM4878261 c.2079A>G p.L693L Substitution - coding silent 6:11185588-11185588 - TCGA-AP-A0LM-01 COSM450348 c.499G>A p.E167K Substitution - Missense 6:11193653-11193653 - TCGA-AM-5820-01 COSM3761435 c.525C>T p.D175D Substitution - coding silent 6:11193627-11193627 - TCGA-AN-A0FT-01 COSM450338 c.1978C>T p.Q660* Substitution - Nonsense 6:11188235-11188235 - BN41T COSM1620785 c.1971C>A p.N657K Substitution - Missense 6:11188242-11188242 - TCGA-A8-A09Q-01 COSM450346 c.771G>A p.P257P Substitution - coding silent 6:11191098-11191098 - TCGA-AM-5820-01 COSM3761438 c.141A>G p.S47S Substitution - coding silent 6:11213599-11213599 - TCGA-22-0944-01 COSM739628 c.2301G>A p.V767V Substitution - coding silent 6:11185366-11185366 - TCGA-A8-A07W-01 COSM450344 c.932G>A p.G311D Substitution - Missense 6:11190937-11190937 - BD224T COSM5508611 c.1010A>C p.N337T Substitution - Missense 6:11190859-11190859 - TCGA-HC-7212-01 COSM3674524 c.787A>G p.I263V Substitution - Missense 6:11191082-11191082 - cSCCP6 COSM136520 c.1912G>A p.E638K Substitution - Missense 6:11188301-11188301 - 449 COSM3722743 c.168A>G p.P56P Substitution - coding silent 6:11213572-11213572 - TCGA-D9-A1JW-06 COSM3619581 c.734C>T p.P245L Substitution - Missense 6:11191135-11191135 - CSCC-7-T COSM4496233 c.470C>T p.P157L Substitution - Missense 6:11193682-11193682 - TCGA-33-6737-01 COSM739630 c.2361C>G p.L787L Substitution - coding silent 6:11185306-11185306 - TCGA-G4-6586-01 COSM1439934 c.431delG p.G144fs*11 Deletion - Frameshift 6:11213309-11213309 - HN_62861 COSM124716 c.1100G>A p.R367Q Substitution - Missense 6:11190769-11190769 - 949_T COSM3947899 c.581C>G p.S194* Substitution - Nonsense 6:11192427-11192427 - TCGA-HU-A4H4-01 COSM3857652 c.442C>T p.P148S Substitution - Missense 6:11213298-11213298 - Sample_1 COSM3761433 c.2367C>T p.T789T Substitution - coding silent 6:11185300-11185300 - TCGA-HR-A2OH-01 COSM3619590 c.362C>T p.P121L Substitution - Missense 6:11213378-11213378 - NB-1092 COSM1286556 c.2182G>A p.A728T Substitution - Missense 6:11185485-11185485 - sysucc-1497T COSM5764195 c.1727C>A p.S576* Substitution - Nonsense 6:11190142-11190142 - TCGA-EI-6882-01 COSM3429885 c.2218C>T p.R740* Substitution - Nonsense 6:11185449-11185449 - TCGA-BS-A0TJ-01 COSM1072240 c.1130G>T p.R377L Substitution - Missense 6:11190739-11190739 - CPCG0006-F1 COSM3927826 c.1504A>C p.T502P Substitution - Missense 6:11190365-11190365 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.37982 6p25-p24 602265 2482189|CGAP|BC040207|A/G|non-coding||2889|Validated; 1513568|dbSNP|BC040207|A/G|non-coding||4463|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGA - InFrameDeletion p.F710delF c.2129_2131delTCT 6 11185769 CM A G Missense p.F758L c.2272T>C 6 11185628 MB A G Missense p.I142T c.425T>C 6 11213548 RCCC A G Missense p.S369P c.1105T>C 6 11190997 LGG C A Missense p.D434Y c.1300G>T 6 11190802 LUSC C A Missense p.R321L c.962G>T 6 11191140 NB C - Frameshift p.R826Pfs*15 c.2477delG 6 11185423 LUAD C G Missense p.G221R c.661G>C 6 11192580 HNSC C T Missense p.A316T c.946G>A 6 11191156 STAD C T Missense p.A728T c.2182G>A 6 11185718 NB C T Missense p.E167K c.499G>A 6 11193886 BRCA C T Missense p.E20K c.58G>A 6 11213915 HNSC C T Missense p.G311D c.932G>A 6 11191170 BRCA C T Missense p.M485I c.1455G>A 6 11190647 BLCA C T Missense p.R25H c.74G>A 6 11213899 BRCA C T Missense p.R367Q c.1100G>A 6 11191002 HNSC C T Missense p.V323I c.967G>A 6 11191135 BRCA C T Synonymous p.K484K c.1452G>A 6 11190650 CM C T Synonymous p.L763L c.2289G>A 6 11185611 CM C T Synonymous p.P352P c.1056G>A 6 11191046 STAD C T Synonymous p.Q656Q c.1968G>A 6 11188478 CM C T Synonymous p.V767V c.2301G>A 6 11185599 LUSC G A IntronicSNV . c.562-81C>T 6 11192760 CM G A Missense p.P121L c.362C>T 6 11213611 CM G A Missense p.P226L c.677C>T 6 11191425 UCEC G A Missense p.P245L c.734C>T 6 11191368 CM G A Missense p.S194L c.581C>T 6 11192660 CM G A Missense p.S298F c.893C>T 6 11191209 CM G A Nonsense p.Q660* c.1978C>T 6 11188468 BRCA G A Nonsense p.R102* c.304C>T 6 11213669 CM G A Synonymous p.F243F c.729C>T 6 11191373 COREAD G A Synonymous p.H301H c.903C>T 6 11191199 STAD G A Synonymous p.L349L c.1045C>T 6 11191057 ESCA G A Synonymous p.N552N c.1656C>T 6 11190446 STAD G A Synonymous p.S667S c.2001C>T 6 11185899 STAD G A Synonymous p.T433T c.1299C>T 6 11190803 STAD G C Missense p.D360E c.1080C>G 6 11191022 BRCA G C Missense p.P245A c.733C>G 6 11191369 HC G C Synonymous p.L463L c.1389C>G 6 11190713 BLCA G C Synonymous p.L787L c.2361C>G 6 11185539 LUSC - G Frameshift p.R740Afs*80 c.2216dupC 6 11185684 RCCC G T Missense p.L751I c.2251C>A 6 11185649 UCEC G T Missense p.P284Q c.851C>A 6 11191251 HNSC G T Missense p.P95T c.283C>A 6 11213690 CM G T Missense p.S746R c.2238C>A 6 11185662 NB G T Synonymous p.P559P c.1677C>A 6 11190425 LUAD T A Missense p.E578V c.1733A>T 6 11190369 LUSC T A Missense p.Q597L c.1790A>T 6 11190312 BRCA T A Synonymous p.A753A c.2259A>T 6 11185641 LUAD T C 3-UTRSNV . c.2502+12A>G 6 11185386 MB T C Missense p.I263V c.787A>G 6 11191315 PRAD T C Missense p.T266A c.796A>G 6 11191306 CM