Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 179077194 179077194 + Missense_Mutation SNP T T C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr1:179077194T>C c.3208A>G c.(3208-3210)Aga>Gga p.R1070G BLCA 1 179077197 179077197 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:179077197G>C c.3205C>G c.(3205-3207)Ctg>Gtg p.L1069V BLCA 1 179077602 179077602 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr1:179077602G>A c.2800C>T c.(2800-2802)Ctt>Ttt p.L934F BLCA 1 179078329 179078363 + Frame_Shift_Del DEL AGATGAGAAGTTACCCGTGAGTTCGTATTTCTTAT AGATGAGAAGTTACCCGTGAGTTCGTATTTCTTAT - TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:179078329_179078363delAGATGAGAAGTTACCCGTGAGTTCGTATTTCTTAT c.2039_2073delATAAGAAATACGAACTCACGGGTAACTTCTCATCT c.(2038-2073)cataagaaatacgaactcacgggtaacttctcatctfs p.HKKYELTGNFSS680fs BLCA 1 179078333 179078333 + Missense_Mutation SNP G G A TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr1:179078333G>A c.2069C>T c.(2068-2070)tCa>tTa p.S690L BLCA 1 179081513 179081513 + Missense_Mutation SNP C C T TCGA-ZF-A9R3-01A-11D-A38G-08 TCGA-ZF-A9R3-10A-01D-A38J-08 g.chr1:179081513C>T c.1582G>A c.(1582-1584)Gat>Aat p.D528N BLCA 1 179089340 179089340 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr1:179089340G>A c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L BLCA 1 179095626 179095626 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:179095626G>A c.573C>T c.(571-573)atC>atT p.I191I BLCA 1 179095723 179095723 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr1:179095723C>T c.476G>A c.(475-477)aGc>aAc p.S159N BLCA 1 179100501 179100501 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:179100501G>A c.336C>T c.(334-336)ttC>ttT p.F112F BRCA 1 179077894 179077894 + Frame_Shift_Del DEL T T - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr1:179077894delT c.2508delA c.(2506-2508)aaafs p.K836fs BRCA 1 179078567 179078567 + Missense_Mutation SNP C C T TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 g.chr1:179078567C>T c.1835G>A c.(1834-1836)aGa>aAa p.R612K BRCA 1 179079445 179079445 + Silent SNP T T A TCGA-A2-A0YG-01A-21D-A10G-09 TCGA-A2-A0YG-10A-01D-A10G-09 g.chr1:179079445T>A c.1797A>T c.(1795-1797)acA>acT p.T599T BRCA 1 179081525 179081525 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:179081525A>C c.1570T>G c.(1570-1572)Tgg>Ggg p.W524G BRCA 1 179086512 179086512 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 g.chr1:179086512C>G c.1363G>C c.(1363-1365)Gag>Cag p.E455Q BRCA 1 179090960 179090960 + Missense_Mutation SNP G G A TCGA-D8-A1JD-01A-11D-A13L-09 TCGA-D8-A1JD-10A-01D-A13O-09 g.chr1:179090960G>A c.730C>T c.(730-732)Ctt>Ttt p.L244F BRCA 1 179095520 179095520 + Missense_Mutation SNP C C A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 g.chr1:179095520C>A c.679G>T c.(679-681)Gat>Tat p.D227Y BRCA 1 179095776 179095776 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr1:179095776C>T c.423G>A c.(421-423)caG>caA p.Q141Q CESC 1 179077403 179077403 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr1:179077403G>C c.2999C>G c.(2998-3000)tCa>tGa p.S1000* CESC 1 179095626 179095626 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 g.chr1:179095626G>A c.573C>T c.(571-573)atC>atT p.I191I CHOL 1 179077425 179077425 + Silent SNP G G A TCGA-W5-AA33-01A-11D-A417-09 TCGA-W5-AA33-10A-01D-A41A-09 g.chr1:179077425G>A c.2977C>T c.(2977-2979)Ctg>Ttg p.L993L COAD 1 179076915 179076915 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:179076915T>C c.3487A>G c.(3487-3489)Aac>Gac p.N1163D COAD 1 179076921 179076921 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:179076921C>T c.3481G>A c.(3481-3483)Ggg>Agg p.G1161R COAD 1 179077038 179077038 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:179077038C>A c.3364G>T c.(3364-3366)Ggc>Tgc p.G1122C COAD 1 179077199 179077199 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:179077199G>A c.3203C>T c.(3202-3204)gCt>gTt p.A1068V COAD 1 179077529 179077529 + Missense_Mutation SNP A A C TCGA-AA-A00W-01A-01W-A005-10 TCGA-AA-A00W-10A-01W-A005-10 g.chr1:179077529A>C c.2873T>G c.(2872-2874)tTc>tGc p.F958C COAD 1 179077546 179077546 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:179077546G>A c.2856C>T c.(2854-2856)gaC>gaT p.D952D COAD 1 179077894 179077894 + Frame_Shift_Del DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:179077894delT c.2508delA c.(2506-2508)aaafs p.K836fs COAD 1 179078145 179078145 + Missense_Mutation SNP T T C TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr1:179078145T>C c.2257A>G c.(2257-2259)Aca>Gca p.T753A COAD 1 179078212 179078212 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:179078212G>A c.2190C>T c.(2188-2190)gaC>gaT p.D730D COAD 1 179078307 179078307 + Missense_Mutation SNP C C T TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr1:179078307C>T c.2095G>A c.(2095-2097)Gat>Aat p.D699N COAD 1 179078352 179078352 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:179078352C>T c.2050G>A c.(2050-2052)Gaa>Aaa p.E684K COAD 1 179079572 179079572 + Missense_Mutation SNP C C T TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr1:179079572C>T c.1670G>A c.(1669-1671)gGg>gAg p.G557E COAD 1 179081509 179081509 + Missense_Mutation SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:179081509C>A c.1586G>T c.(1585-1587)aGg>aTg p.R529M COAD 1 179084017 179084017 + Silent SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R COAD 1 179084017 179084017 + Silent SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R COAD 1 179084017 179084017 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R COAD 1 179084038 179084039 + Frame_Shift_Ins INS - - G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:179084038_179084039insG c.1535_1536insC c.(1534-1536)cctfs p.P512fs COAD 1 179087844 179087844 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:179087844C>T c.1101G>A c.(1099-1101)ggG>ggA p.G367G COAD 1 179089402 179089402 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:179089402G>A c.968C>T c.(967-969)aCc>aTc p.T323I COAD 1 179090761 179090761 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:179090761T>C c.929A>G c.(928-930)tAc>tGc p.Y310C COAD 1 179090803 179090803 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:179090803delC c.887delG c.(886-888)ggcfs p.G297fs COAD 1 179090856 179090856 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:179090856G>A c.834C>T c.(832-834)caC>caT p.H278H COAD 1 179095521 179095521 + Silent SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr1:179095521T>C c.678A>G c.(676-678)gcA>gcG p.A226A COAD 1 179095699 179095699 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:179095699C>T c.500G>A c.(499-501)aGc>aAc p.S167N COAD 1 179100516 179100516 + Silent SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:179100516A>G c.321T>C c.(319-321)agT>agC p.S107S COAD 1 179100566 179100566 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:179100566C>A c.271G>T c.(271-273)Gag>Tag p.E91* COAD 1 179100582 179100582 + Silent SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:179100582T>C c.255A>G c.(253-255)gaA>gaG p.E85E COADREAD 1 179076915 179076915 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:179076915T>C c.3487A>G c.(3487-3489)Aac>Gac p.N1163D COADREAD 1 179076921 179076921 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:179076921C>T c.3481G>A c.(3481-3483)Ggg>Agg p.G1161R COADREAD 1 179077038 179077038 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:179077038C>A c.3364G>T c.(3364-3366)Ggc>Tgc p.G1122C COADREAD 1 179077199 179077199 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:179077199G>A c.3203C>T c.(3202-3204)gCt>gTt p.A1068V COADREAD 1 179077529 179077529 + Missense_Mutation SNP A A C TCGA-AA-A00W-01A-01W-A005-10 TCGA-AA-A00W-10A-01W-A005-10 g.chr1:179077529A>C c.2873T>G c.(2872-2874)tTc>tGc p.F958C COADREAD 1 179077546 179077546 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:179077546G>A c.2856C>T c.(2854-2856)gaC>gaT p.D952D COADREAD 1 179077641 179077641 + Missense_Mutation SNP G G A TCGA-AG-A008-01A-01W-A005-10 TCGA-AG-A008-10A-01W-A005-10 g.chr1:179077641G>A c.2761C>T c.(2761-2763)Ccc>Tcc p.P921S COADREAD 1 179077894 179077894 + Frame_Shift_Del DEL T T - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:179077894delT c.2508delA c.(2506-2508)aaafs p.K836fs COADREAD 1 179078143 179078143 + Silent SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:179078143T>C c.2259A>G c.(2257-2259)acA>acG p.T753T COADREAD 1 179078145 179078145 + Missense_Mutation SNP T T C TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr1:179078145T>C c.2257A>G c.(2257-2259)Aca>Gca p.T753A COADREAD 1 179078212 179078212 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:179078212G>A c.2190C>T c.(2188-2190)gaC>gaT p.D730D COADREAD 1 179078307 179078307 + Missense_Mutation SNP C C T TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr1:179078307C>T c.2095G>A c.(2095-2097)Gat>Aat p.D699N COADREAD 1 179078352 179078352 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:179078352C>T c.2050G>A c.(2050-2052)Gaa>Aaa p.E684K COADREAD 1 179079572 179079572 + Missense_Mutation SNP C C T TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr1:179079572C>T c.1670G>A c.(1669-1671)gGg>gAg p.G557E COADREAD 1 179081509 179081509 + Missense_Mutation SNP C C A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:179081509C>A c.1586G>T c.(1585-1587)aGg>aTg p.R529M COADREAD 1 179084017 179084017 + Silent SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R COADREAD 1 179084017 179084017 + Silent SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R COADREAD 1 179084017 179084017 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R COADREAD 1 179084017 179084017 + Silent SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R COADREAD 1 179084019 179084019 + Missense_Mutation SNP T T C TCGA-CI-6621-01A-11D-1826-10 TCGA-CI-6621-10A-01D-1826-10 g.chr1:179084019T>C c.1555A>G c.(1555-1557)Aga>Gga p.R519G COADREAD 1 179084038 179084039 + Frame_Shift_Ins INS - - G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:179084038_179084039insG c.1535_1536insC c.(1534-1536)cctfs p.P512fs COADREAD 1 179087822 179087822 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:179087822C>A c.1123G>T c.(1123-1125)Gaa>Taa p.E375* COADREAD 1 179087844 179087844 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:179087844C>T c.1101G>A c.(1099-1101)ggG>ggA p.G367G COADREAD 1 179089402 179089402 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:179089402G>A c.968C>T c.(967-969)aCc>aTc p.T323I COADREAD 1 179090761 179090761 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:179090761T>C c.929A>G c.(928-930)tAc>tGc p.Y310C COADREAD 1 179090803 179090803 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:179090803delC c.887delG c.(886-888)ggcfs p.G297fs COADREAD 1 179090856 179090856 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:179090856G>A c.834C>T c.(832-834)caC>caT p.H278H COADREAD 1 179095521 179095521 + Silent SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr1:179095521T>C c.678A>G c.(676-678)gcA>gcG p.A226A COADREAD 1 179095699 179095699 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:179095699C>T c.500G>A c.(499-501)aGc>aAc p.S167N COADREAD 1 179100516 179100516 + Silent SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:179100516A>G c.321T>C c.(319-321)agT>agC p.S107S COADREAD 1 179100566 179100566 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:179100566C>A c.271G>T c.(271-273)Gag>Tag p.E91* COADREAD 1 179100582 179100582 + Silent SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:179100582T>C c.255A>G c.(253-255)gaA>gaG p.E85E ESCA 1 179078319 179078319 + Missense_Mutation SNP G G T TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr1:179078319G>T c.2083C>A c.(2083-2085)Cta>Ata p.L695I GBM 1 179077669 179077669 + Silent SNP C C T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr1:179077669C>T c.2733G>A c.(2731-2733)ccG>ccA p.P911P GBM 1 179084044 179084044 + Silent SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr1:179084044G>A c.1530C>T c.(1528-1530)tgC>tgT p.C510C GBM 1 179086548 179086548 + Missense_Mutation SNP C C T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 g.chr1:179086548C>T c.1327G>A c.(1327-1329)Gct>Act p.A443T GBM 1 179090932 179090932 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr1:179090932T>C c.758A>G c.(757-759)gAt>gGt p.D253G GBMLGG 1 179077669 179077669 + Silent SNP C C T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr1:179077669C>T c.2733G>A c.(2731-2733)ccG>ccA p.P911P GBMLGG 1 179078464 179078464 + Silent SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 g.chr1:179078464C>T c.1938G>A c.(1936-1938)agG>agA p.R646R GBMLGG 1 179084044 179084044 + Silent SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr1:179084044G>A c.1530C>T c.(1528-1530)tgC>tgT p.C510C GBMLGG 1 179084144 179084144 + Missense_Mutation SNP T T A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 g.chr1:179084144T>A c.1430A>T c.(1429-1431)gAa>gTa p.E477V GBMLGG 1 179086548 179086548 + Missense_Mutation SNP C C T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 g.chr1:179086548C>T c.1327G>A c.(1327-1329)Gct>Act p.A443T GBMLGG 1 179090932 179090932 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr1:179090932T>C c.758A>G c.(757-759)gAt>gGt p.D253G HNSC 1 179077050 179077050 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr1:179077050C>A c.3352G>T c.(3352-3354)Gac>Tac p.D1118Y HNSC 1 179077240 179077240 + Silent SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 g.chr1:179077240C>T c.3162G>A c.(3160-3162)tcG>tcA p.S1054S HNSC 1 179077340 179077340 + Missense_Mutation SNP C C T TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr1:179077340C>T c.3062G>A c.(3061-3063)gGa>gAa p.G1021E HNSC 1 179077353 179077353 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chr1:179077353C>G c.3049G>C c.(3049-3051)Gaa>Caa p.E1017Q HNSC 1 179077623 179077632 + Frame_Shift_Del DEL GAGTGGTTGG GAGTGGTTGG - TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 g.chr1:179077623_179077632delGAGTGGTTGG c.2770_2779delCCAACCACTC c.(2770-2781)ccaaccactcacfs p.PTTH924fs HNSC 1 179077872 179077872 + Missense_Mutation SNP T T A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 g.chr1:179077872T>A c.2530A>T c.(2530-2532)Agc>Tgc p.S844C HNSC 1 179084052 179084052 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr1:179084052C>T c.1522G>A c.(1522-1524)Gag>Aag p.E508K HNSC 1 179084079 179084079 + Missense_Mutation SNP C C T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr1:179084079C>T c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K HNSC 1 179086512 179086512 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr1:179086512C>G c.1363G>C c.(1363-1365)Gag>Cag p.E455Q HNSC 1 179089369 179089369 + Missense_Mutation SNP G G T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr1:179089369G>T c.1001C>A c.(1000-1002)gCa>gAa p.A334E HNSC 1 179095631 179095631 + Silent SNP G G A TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr1:179095631G>A c.568C>T c.(568-570)Cta>Tta p.L190L HNSC 1 179112101 179112101 + Intron SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 g.chr1:179112101C>T KIPAN 1 179078368 179078368 + Missense_Mutation SNP C C A TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr1:179078368C>A c.2034G>T c.(2032-2034)caG>caT p.Q678H KIPAN 1 179090792 179090792 + Missense_Mutation SNP C C T TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr1:179090792C>T c.898G>A c.(898-900)Gga>Aga p.G300R KIPAN 1 179090956 179090956 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:179090956A>G c.734T>C c.(733-735)gTa>gCa p.V245A KIRC 1 179090792 179090792 + Missense_Mutation SNP C C T TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr1:179090792C>T c.898G>A c.(898-900)Gga>Aga p.G300R KIRC 1 179090956 179090956 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr1:179090956A>G c.734T>C c.(733-735)gTa>gCa p.V245A KIRP 1 179078368 179078368 + Missense_Mutation SNP C C A TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr1:179078368C>A c.2034G>T c.(2032-2034)caG>caT p.Q678H LGG 1 179078464 179078464 + Silent SNP C C T TCGA-WY-A85A-01A-21D-A36O-08 TCGA-WY-A85A-10A-01D-A367-08 g.chr1:179078464C>T c.1938G>A c.(1936-1938)agG>agA p.R646R LGG 1 179084144 179084144 + Missense_Mutation SNP T T A TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 g.chr1:179084144T>A c.1430A>T c.(1429-1431)gAa>gTa p.E477V LIHC 1 179077338 179077338 + Missense_Mutation SNP C C T TCGA-2Y-A9H3-01A-11D-A382-10 TCGA-2Y-A9H3-10A-01D-A385-10 g.chr1:179077338C>T c.3064G>A c.(3064-3066)Gga>Aga p.G1022R LIHC 1 179078242 179078242 + Frame_Shift_Del DEL C C - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr1:179078242delC c.2160delG c.(2158-2160)gggfs p.G720fs LIHC 1 179086622 179086622 + Frame_Shift_Del DEL C C - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr1:179086622delC c.1253delG c.(1252-1254)ggafs p.G418fs LIHC 1 179100575 179100575 + Missense_Mutation SNP C C A TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chr1:179100575C>A c.262G>T c.(262-264)Gca>Tca p.A88S LIHC 1 179112161 179112161 + Intron SNP G G T TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr1:179112161G>T LUAD 1 179076925 179076925 + Silent SNP C C A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr1:179076925C>A c.3477G>T c.(3475-3477)gtG>gtT p.V1159V LUAD 1 179077435 179077435 + Silent SNP C C G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr1:179077435C>G c.2967G>C c.(2965-2967)gtG>gtC p.V989V LUAD 1 179077507 179077507 + Missense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr1:179077507C>A c.2895G>T c.(2893-2895)caG>caT p.Q965H LUAD 1 179077597 179077597 + Missense_Mutation SNP G G C TCGA-44-A47F-01A-11D-A24D-08 TCGA-44-A47F-10A-01D-A24F-08 g.chr1:179077597G>C c.2805C>G c.(2803-2805)atC>atG p.I935M LUAD 1 179077723 179077723 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:179077723C>G c.2679G>C c.(2677-2679)aaG>aaC p.K893N LUAD 1 179077769 179077769 + Missense_Mutation SNP C C A TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr1:179077769C>A c.2633G>T c.(2632-2634)gGg>gTg p.G878V LUAD 1 179077914 179077914 + Missense_Mutation SNP T T A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr1:179077914T>A c.2488A>T c.(2488-2490)Aat>Tat p.N830Y LUAD 1 179078074 179078074 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr1:179078074C>A c.2328G>T c.(2326-2328)aaG>aaT p.K776N LUAD 1 179078092 179078092 + Silent SNP G G A TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr1:179078092G>A c.2310C>T c.(2308-2310)gcC>gcT p.A770A LUAD 1 179078178 179078178 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:179078178C>A c.2224G>T c.(2224-2226)Ggg>Tgg p.G742W LUAD 1 179078350 179078350 + Silent SNP T T C TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr1:179078350T>C c.2052A>G c.(2050-2052)gaA>gaG p.E684E LUAD 1 179079530 179079530 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr1:179079530C>A c.1712G>T c.(1711-1713)cGg>cTg p.R571L LUAD 1 179084056 179084056 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:179084056C>A c.1518G>T c.(1516-1518)caG>caT p.Q506H LUAD 1 179087812 179087812 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 g.chr1:179087812C>T c.1133G>A c.(1132-1134)cGa>cAa p.R378Q LUAD 1 179087822 179087822 + Nonsense_Mutation SNP C C A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr1:179087822C>A c.1123G>T c.(1123-1125)Gaa>Taa p.E375* LUAD 1 179090749 179090749 + Missense_Mutation SNP A A C TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr1:179090749A>C c.941T>G c.(940-942)gTt>gGt p.V314G LUAD 1 179090797 179090797 + Missense_Mutation SNP T T A TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr1:179090797T>A c.893A>T c.(892-894)cAg>cTg p.Q298L LUAD 1 179095584 179095584 + Silent SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr1:179095584C>A c.615G>T c.(613-615)ggG>ggT p.G205G LUAD 1 179095711 179095711 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr1:179095711G>T c.488C>A c.(487-489)aCc>aAc p.T163N LUAD 1 179100521 179100521 + Missense_Mutation SNP C C T TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr1:179100521C>T c.316G>A c.(316-318)Gag>Aag p.E106K LUAD 1 179100544 179100544 + Missense_Mutation SNP T T A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr1:179100544T>A c.293A>T c.(292-294)aAg>aTg p.K98M LUAD 1 179100556 179100556 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:179100556C>A c.281G>T c.(280-282)aGg>aTg p.R94M LUAD 1 179112177 179112177 + Intron SNP C C A TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr1:179112177C>A LUSC 1 179077770 179077770 + Missense_Mutation SNP C C A TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr1:179077770C>A c.2632G>T c.(2632-2634)Ggg>Tgg p.G878W LUSC 1 179078241 179078242 + Frame_Shift_Ins INS - - C TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr1:179078241_179078242insC c.2160_2161insG c.(2158-2163)gggagcfs p.S721fs LUSC 1 179078431 179078431 + Missense_Mutation SNP C C T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr1:179078431C>T c.1971G>A c.(1969-1971)atG>atA p.M657I LUSC 1 179078459 179078459 + Missense_Mutation SNP C C A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr1:179078459C>A c.1943G>T c.(1942-1944)aGg>aTg p.R648M LUSC 1 179084073 179084073 + Nonsense_Mutation SNP C C A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr1:179084073C>A c.1501G>T c.(1501-1503)Gga>Tga p.G501* LUSC 1 179087825 179087825 + Nonsense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:179087825G>A c.1120C>T c.(1120-1122)Cga>Tga p.R374* LUSC 1 179090794 179090794 + Missense_Mutation SNP T T C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 g.chr1:179090794T>C c.896A>G c.(895-897)tAt>tGt p.Y299C OV 1 179076961 179076961 + Silent SNP C C T TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 g.chr1:179076961C>T c.3441G>A c.(3439-3441)ctG>ctA p.L1147L OV 1 179095523 179095523 + Missense_Mutation SNP C C T TCGA-13-1494-01A-01W-0545-08 TCGA-13-1494-10A-01W-0545-08 g.chr1:179095523C>T c.676G>A c.(676-678)Gca>Aca p.A226T PAAD 1 179078040 179078040 + Missense_Mutation SNP A A T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:179078040A>T c.2362T>A c.(2362-2364)Tcc>Acc p.S788T PAAD 1 179112077 179112077 + Intron SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:179112077C>T READ 1 179077641 179077641 + Missense_Mutation SNP G G A TCGA-AG-A008-01A-01W-A005-10 TCGA-AG-A008-10A-01W-A005-10 g.chr1:179077641G>A c.2761C>T c.(2761-2763)Ccc>Tcc p.P921S READ 1 179078143 179078143 + Silent SNP T T C TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr1:179078143T>C c.2259A>G c.(2257-2259)acA>acG p.T753T READ 1 179084017 179084017 + Silent SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr1:179084017T>C c.1557A>G c.(1555-1557)agA>agG p.R519R READ 1 179084019 179084019 + Missense_Mutation SNP T T C TCGA-CI-6621-01A-11D-1826-10 TCGA-CI-6621-10A-01D-1826-10 g.chr1:179084019T>C c.1555A>G c.(1555-1557)Aga>Gga p.R519G READ 1 179087822 179087822 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:179087822C>A c.1123G>T c.(1123-1125)Gaa>Taa p.E375* SARC 1 179078352 179078352 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr1:179078352C>T c.2050G>A c.(2050-2052)Gaa>Aaa p.E684K SKCM 1 179076997 179076997 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:179076997G>A c.3405C>T c.(3403-3405)gcC>gcT p.A1135A SKCM 1 179077360 179077360 + Silent SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr1:179077360G>A c.3042C>T c.(3040-3042)tcC>tcT p.S1014S SKCM 1 179077499 179077499 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr1:179077499G>A c.2903C>T c.(2902-2904)tCc>tTc p.S968F SKCM 1 179077937 179077937 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr1:179077937G>A c.2465C>T c.(2464-2466)cCa>cTa p.P822L SKCM 1 179078028 179078028 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr1:179078028G>A c.2374C>T c.(2374-2376)Cca>Tca p.P792S SKCM 1 179078078 179078078 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:179078078G>A c.2324C>T c.(2323-2325)tCc>tTc p.S775F SKCM 1 179078467 179078467 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:179078467G>A c.1935C>T c.(1933-1935)acC>acT p.T645T SKCM 1 179078468 179078468 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:179078468G>A c.1934C>T c.(1933-1935)aCc>aTc p.T645I SKCM 1 179084114 179084114 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:179084114G>A c.1460C>T c.(1459-1461)cCa>cTa p.P487L SKCM 1 179084119 179084119 + Silent SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr1:179084119T>C c.1455A>G c.(1453-1455)ccA>ccG p.P485P SKCM 1 179086514 179086514 + Missense_Mutation SNP G G A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr1:179086514G>A c.1361C>T c.(1360-1362)cCa>cTa p.P454L SKCM 1 179087822 179087822 + Missense_Mutation SNP C C T TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr1:179087822C>T c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K SKCM 1 179095588 179095588 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:179095588G>A c.611C>T c.(610-612)cCt>cTt p.P204L SKCM 1 179095589 179095589 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:179095589G>A c.610C>T c.(610-612)Cct>Tct p.P204S SKCM 1 179095614 179095614 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:179095614G>A c.585C>T c.(583-585)ttC>ttT p.F195F SKCM 1 179095686 179095687 + Frame_Shift_Del DEL GT GT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:179095686_179095687delGT c.512_513delAC c.(511-513)cacfs p.H171fs SKCM 1 179095764 179095764 + Nonsense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr1:179095764C>T c.435G>A c.(433-435)tgG>tgA p.W145* SKCM 1 179100501 179100501 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr1:179100501G>A c.336C>T c.(334-336)ttC>ttT p.F112F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 179078158 179078158 single base substitution G A downstream_gene_variant BLCA-CN 1 179078158 179078158 single base substitution G A intron_variant BLCA-CN 1 179078158 179078158 single base substitution G A synonymous_variant I712I 2136C>T BLCA-CN 1 179078158 179078158 single base substitution G A synonymous_variant I727I 2181C>T BLCA-CN 1 179078158 179078158 single base substitution G A synonymous_variant I733I 2199C>T BLCA-CN 1 179078158 179078158 single base substitution G A synonymous_variant I748I 2244C>T BLCA-CN 1 179081525 179081525 single base substitution A C downstream_gene_variant BLCA-CN 1 179081525 179081525 single base substitution A C missense_variant W488G 1462T>G BLCA-CN 1 179081525 179081525 single base substitution A C missense_variant W503G 1507T>G BLCA-CN 1 179081525 179081525 single base substitution A C missense_variant W509G 1525T>G BLCA-CN 1 179081525 179081525 single base substitution A C missense_variant W524G 1570T>G BLCA-CN 1 179095570 179095570 single base substitution G A downstream_gene_variant BLCA-CN 1 179095570 179095570 single base substitution G A exon_variant BLCA-CN 1 179095570 179095570 single base substitution G A missense_variant S174L 521C>T BLCA-CN 1 179095570 179095570 single base substitution G A missense_variant S189L 566C>T BLCA-CN 1 179095570 179095570 single base substitution G A missense_variant S195L 584C>T BLCA-CN 1 179095570 179095570 single base substitution G A missense_variant S210L 629C>T BLCA-US 1 179077602 179077602 single base substitution G A downstream_gene_variant BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L795F 2383C>T BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L810F 2428C>T BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L816F 2446C>T BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L831F 2491C>T BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L898F 2692C>T BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L913F 2737C>T BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L919F 2755C>T BLCA-US 1 179077602 179077602 single base substitution G A missense_variant L934F 2800C>T BRCA-EU 1 179064102 179064102 single base substitution G A downstream_gene_variant BRCA-EU 1 179064264 179064264 single base substitution A T downstream_gene_variant BRCA-EU 1 179064838 179064838 single base substitution C T downstream_gene_variant BRCA-EU 1 179065785 179065785 single base substitution G A downstream_gene_variant BRCA-EU 1 179066157 179066157 single base substitution C G downstream_gene_variant BRCA-EU 1 179066620 179066620 single base substitution G A downstream_gene_variant BRCA-EU 1 179067330 179067330 single base substitution C G downstream_gene_variant BRCA-EU 1 179067777 179067777 single base substitution G A downstream_gene_variant BRCA-EU 1 179068572 179068572 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 179068572 179068572 single base substitution C G downstream_gene_variant BRCA-EU 1 179069158 179069158 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 179069158 179069158 single base substitution T C downstream_gene_variant BRCA-EU 1 179069520 179069520 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 179069520 179069520 single base substitution G A downstream_gene_variant BRCA-EU 1 179072296 179072296 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 179072296 179072296 single base substitution G A downstream_gene_variant BRCA-EU 1 179072663 179072663 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 179072663 179072663 single base substitution G C downstream_gene_variant BRCA-EU 1 179072984 179072984 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 179072984 179072984 single base substitution C T downstream_gene_variant BRCA-EU 1 179075693 179075693 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 179075693 179075693 single base substitution C G downstream_gene_variant BRCA-EU 1 179076323 179076323 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 179076323 179076323 single base substitution C T downstream_gene_variant BRCA-EU 1 179077304 179077304 single base substitution C T downstream_gene_variant BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S1012N 3035G>A BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S1018N 3053G>A BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S1033N 3098G>A BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S894N 2681G>A BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S909N 2726G>A BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S915N 2744G>A BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S930N 2789G>A BRCA-EU 1 179077304 179077304 single base substitution C T missense_variant S997N 2990G>A BRCA-EU 1 179077898 179077898 single base substitution T G downstream_gene_variant BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K696T 2087A>C BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K711T 2132A>C BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K717T 2150A>C BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K732T 2195A>C BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K799T 2396A>C BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K814T 2441A>C BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K820T 2459A>C BRCA-EU 1 179077898 179077898 single base substitution T G missense_variant K835T 2504A>C BRCA-EU 1 179078862 179078862 single base substitution G C downstream_gene_variant BRCA-EU 1 179078862 179078862 single base substitution G C intron_variant BRCA-EU 1 179078994 179078994 single base substitution C T downstream_gene_variant BRCA-EU 1 179078994 179078994 single base substitution C T intron_variant BRCA-EU 1 179079524 179079524 single base substitution G C downstream_gene_variant BRCA-EU 1 179079524 179079524 single base substitution G C missense_variant P537R 1610C>G BRCA-EU 1 179079524 179079524 single base substitution G C missense_variant P552R 1655C>G BRCA-EU 1 179079524 179079524 single base substitution G C missense_variant P558R 1673C>G BRCA-EU 1 179079524 179079524 single base substitution G C missense_variant P573R 1718C>G BRCA-EU 1 179079634 179079634 single base substitution G A downstream_gene_variant BRCA-EU 1 179079634 179079634 single base substitution G A intron_variant BRCA-EU 1 179079923 179079923 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 179079923 179079923 single base substitution G T intron_variant BRCA-EU 1 179079965 179079965 single base substitution G T intron_variant BRCA-EU 1 179079965 179079965 single base substitution G T missense_variant A535D 1604C>A BRCA-EU 1 179081175 179081195 deletion of <=200bp ATCTCAAAAAAAAAAAAGTAT - downstream_gene_variant BRCA-EU 1 179081175 179081195 deletion of <=200bp ATCTCAAAAAAAAAAAAGTAT - intron_variant BRCA-EU 1 179081950 179081950 single base substitution C T downstream_gene_variant BRCA-EU 1 179081950 179081950 single base substitution C T intron_variant BRCA-EU 1 179083376 179083376 single base substitution C T downstream_gene_variant BRCA-EU 1 179083376 179083376 single base substitution C T intron_variant BRCA-EU 1 179083756 179083756 single base substitution C A downstream_gene_variant BRCA-EU 1 179083756 179083756 single base substitution C A intron_variant BRCA-EU 1 179083869 179083869 single base substitution C A downstream_gene_variant BRCA-EU 1 179083869 179083869 single base substitution C A intron_variant BRCA-EU 1 179084456 179084456 single base substitution A T downstream_gene_variant BRCA-EU 1 179084456 179084456 single base substitution A T intron_variant BRCA-EU 1 179084814 179084814 deletion of <=200bp G - downstream_gene_variant BRCA-EU 1 179084814 179084814 deletion of <=200bp G - intron_variant BRCA-EU 1 179087164 179087164 single base substitution C T intron_variant BRCA-EU 1 179087490 179087490 deletion of <=200bp T - intron_variant BRCA-EU 1 179087684 179087684 single base substitution G T intron_variant BRCA-EU 1 179088355 179088355 single base substitution C T intron_variant BRCA-EU 1 179088695 179088695 single base substitution A G intron_variant BRCA-EU 1 179089815 179089815 single base substitution A T intron_variant BRCA-EU 1 179091850 179091850 single base substitution A T intron_variant BRCA-EU 1 179091851 179091851 single base substitution T G intron_variant BRCA-EU 1 179092686 179092686 single base substitution A G intron_variant BRCA-EU 1 179093177 179093177 single base substitution C T intron_variant BRCA-EU 1 179093482 179093482 single base substitution C G intron_variant BRCA-EU 1 179095268 179095268 single base substitution A G intron_variant BRCA-EU 1 179096345 179096345 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 179096345 179096345 deletion of <=200bp A - intron_variant BRCA-EU 1 179096549 179096549 single base substitution G A downstream_gene_variant BRCA-EU 1 179096549 179096549 single base substitution G A intron_variant BRCA-EU 1 179096926 179096926 single base substitution G C downstream_gene_variant BRCA-EU 1 179096926 179096926 single base substitution G C intron_variant BRCA-EU 1 179097164 179097164 single base substitution C A downstream_gene_variant BRCA-EU 1 179097164 179097164 single base substitution C A intron_variant BRCA-EU 1 179097217 179097217 single base substitution G A downstream_gene_variant BRCA-EU 1 179097217 179097217 single base substitution G A intron_variant BRCA-EU 1 179097864 179097864 single base substitution G C downstream_gene_variant BRCA-EU 1 179097864 179097864 single base substitution G C intron_variant BRCA-EU 1 179098299 179098299 single base substitution G C downstream_gene_variant BRCA-EU 1 179098299 179098299 single base substitution G C intron_variant BRCA-EU 1 179100174 179100174 single base substitution C T downstream_gene_variant BRCA-EU 1 179100174 179100174 single base substitution C T intron_variant BRCA-EU 1 179101193 179101193 single base substitution C G intron_variant BRCA-EU 1 179101223 179101223 single base substitution C A intron_variant BRCA-EU 1 179102814 179102814 single base substitution C G intron_variant BRCA-EU 1 179102926 179102926 single base substitution C G intron_variant BRCA-EU 1 179103503 179103503 deletion of <=200bp A - intron_variant BRCA-EU 1 179104290 179104290 single base substitution G A intron_variant BRCA-EU 1 179105149 179105149 single base substitution C T intron_variant BRCA-EU 1 179105272 179105272 single base substitution C T intron_variant BRCA-EU 1 179106017 179106017 single base substitution C G intron_variant BRCA-EU 1 179106051 179106051 single base substitution C G intron_variant BRCA-EU 1 179106622 179106622 single base substitution C T intron_variant BRCA-EU 1 179106778 179106778 single base substitution T A intron_variant BRCA-EU 1 179107382 179107382 deletion of <=200bp C - intron_variant BRCA-EU 1 179108331 179108331 single base substitution C G intron_variant BRCA-EU 1 179108626 179108626 single base substitution A G intron_variant BRCA-EU 1 179109936 179109936 single base substitution A G intron_variant BRCA-EU 1 179111150 179111150 single base substitution C G intron_variant BRCA-EU 1 179111419 179111419 deletion of <=200bp T - intron_variant BRCA-EU 1 179112310 179112310 single base substitution A C intron_variant BRCA-EU 1 179112310 179112310 single base substitution A C upstream_gene_variant BRCA-EU 1 179112433 179112433 single base substitution A G intron_variant BRCA-EU 1 179112433 179112433 single base substitution A G upstream_gene_variant BRCA-EU 1 179113490 179113490 single base substitution G A intron_variant BRCA-EU 1 179113490 179113490 single base substitution G A upstream_gene_variant BRCA-EU 1 179113558 179113558 single base substitution G T intron_variant BRCA-EU 1 179113558 179113558 single base substitution G T upstream_gene_variant BRCA-EU 1 179113604 179113604 deletion of <=200bp A - intron_variant BRCA-EU 1 179113604 179113604 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 179115555 179115555 single base substitution C T intron_variant BRCA-EU 1 179115555 179115555 single base substitution C T upstream_gene_variant BRCA-EU 1 179115739 179115739 single base substitution T A intron_variant BRCA-EU 1 179115739 179115739 single base substitution T A upstream_gene_variant BRCA-EU 1 179115741 179115741 single base substitution C A intron_variant BRCA-EU 1 179115741 179115741 single base substitution C A upstream_gene_variant BRCA-EU 1 179116197 179116197 single base substitution T A intron_variant BRCA-EU 1 179116197 179116197 single base substitution T A upstream_gene_variant BRCA-EU 1 179117704 179117704 single base substitution C A intron_variant BRCA-EU 1 179118063 179118064 deletion of <=200bp AG - intron_variant BRCA-EU 1 179118190 179118190 insertion of <=200bp - A intron_variant BRCA-EU 1 179118535 179118535 single base substitution G C intron_variant BRCA-EU 1 179118801 179118801 single base substitution C T intron_variant BRCA-EU 1 179119211 179119212 deletion of <=200bp AT - intron_variant BRCA-EU 1 179119476 179119476 single base substitution C A intron_variant BRCA-EU 1 179119631 179119631 single base substitution C A intron_variant BRCA-EU 1 179119774 179119774 single base substitution G C intron_variant BRCA-EU 1 179120067 179120067 single base substitution C A intron_variant BRCA-EU 1 179120788 179120788 single base substitution T C intron_variant BRCA-EU 1 179121387 179121387 single base substitution T C intron_variant BRCA-EU 1 179121652 179121652 single base substitution T A intron_variant BRCA-EU 1 179125477 179125477 single base substitution G A intron_variant BRCA-EU 1 179126396 179126396 single base substitution G C intron_variant BRCA-EU 1 179126866 179126866 single base substitution G C intron_variant BRCA-EU 1 179129643 179129643 single base substitution C T intron_variant BRCA-EU 1 179130347 179130347 single base substitution T C intron_variant BRCA-EU 1 179131913 179131913 single base substitution C G intron_variant BRCA-EU 1 179133930 179133930 single base substitution G C intron_variant BRCA-EU 1 179134288 179134288 single base substitution G A intron_variant BRCA-EU 1 179135277 179135299 deletion of <=200bp TAGAAGAAAACATAGGAAAAATG - intron_variant BRCA-EU 1 179135355 179135355 single base substitution T C intron_variant BRCA-EU 1 179135718 179135718 single base substitution C T intron_variant BRCA-EU 1 179137361 179137361 single base substitution C G intron_variant BRCA-EU 1 179137922 179137922 single base substitution T C intron_variant BRCA-EU 1 179138009 179138009 single base substitution T C intron_variant BRCA-EU 1 179138507 179138507 single base substitution C A intron_variant BRCA-EU 1 179138997 179138997 single base substitution C G intron_variant BRCA-EU 1 179141041 179141041 single base substitution A G intron_variant BRCA-EU 1 179142546 179142546 single base substitution G A intron_variant BRCA-EU 1 179142787 179142787 single base substitution A G intron_variant BRCA-EU 1 179143360 179143360 single base substitution C T intron_variant BRCA-EU 1 179144782 179144782 single base substitution C G intron_variant BRCA-EU 1 179147364 179147364 single base substitution C G intron_variant BRCA-EU 1 179147557 179147557 single base substitution T A intron_variant BRCA-EU 1 179147683 179147683 single base substitution G C intron_variant BRCA-EU 1 179147896 179147896 deletion of <=200bp G - intron_variant BRCA-EU 1 179147896 179147896 insertion of <=200bp - GG intron_variant BRCA-EU 1 179148176 179148176 single base substitution T C intron_variant BRCA-EU 1 179152003 179152003 single base substitution T C intron_variant BRCA-EU 1 179152061 179152061 deletion of <=200bp T - intron_variant BRCA-EU 1 179153898 179153898 deletion of <=200bp T - intron_variant BRCA-EU 1 179154695 179154695 single base substitution C A intron_variant BRCA-EU 1 179155138 179155138 single base substitution G A intron_variant BRCA-EU 1 179156158 179156158 single base substitution C T intron_variant BRCA-EU 1 179157348 179157348 single base substitution A G intron_variant BRCA-EU 1 179159002 179159002 single base substitution C G intron_variant BRCA-EU 1 179159160 179159160 single base substitution G C intron_variant BRCA-EU 1 179160147 179160147 single base substitution C A intron_variant BRCA-EU 1 179161365 179161365 single base substitution G C intron_variant BRCA-EU 1 179162281 179162281 deletion of <=200bp A - intron_variant BRCA-EU 1 179162867 179162867 insertion of <=200bp - T intron_variant BRCA-EU 1 179168268 179168268 single base substitution A G intron_variant BRCA-EU 1 179169433 179169433 single base substitution C G intron_variant BRCA-EU 1 179169647 179169647 insertion of <=200bp - T intron_variant BRCA-EU 1 179169772 179169772 single base substitution A G intron_variant BRCA-EU 1 179169937 179169937 single base substitution C G intron_variant BRCA-EU 1 179170045 179170045 single base substitution G A intron_variant BRCA-EU 1 179171164 179171164 deletion of <=200bp T - intron_variant BRCA-EU 1 179171372 179171372 single base substitution T C intron_variant BRCA-EU 1 179173719 179173719 insertion of <=200bp - A intron_variant BRCA-EU 1 179174473 179174473 single base substitution C T intron_variant BRCA-EU 1 179175722 179175722 deletion of <=200bp A - intron_variant BRCA-EU 1 179175922 179175927 deletion of <=200bp ATTTAA - intron_variant BRCA-EU 1 179177103 179177103 deletion of <=200bp T - intron_variant BRCA-EU 1 179178731 179178731 single base substitution C T intron_variant BRCA-EU 1 179178765 179178765 single base substitution C G intron_variant BRCA-EU 1 179178829 179178829 single base substitution C G intron_variant BRCA-EU 1 179178829 179178829 single base substitution C T intron_variant BRCA-EU 1 179179299 179179299 single base substitution G C intron_variant BRCA-EU 1 179179696 179179696 single base substitution A G intron_variant BRCA-EU 1 179179782 179179782 single base substitution C A intron_variant BRCA-EU 1 179181375 179181375 single base substitution G C intron_variant BRCA-EU 1 179182848 179182848 deletion of <=200bp T - intron_variant BRCA-EU 1 179183298 179183298 single base substitution A C intron_variant BRCA-EU 1 179183935 179183935 single base substitution G C intron_variant BRCA-EU 1 179183993 179183993 insertion of <=200bp - AC intron_variant BRCA-EU 1 179184112 179184112 single base substitution T C intron_variant BRCA-EU 1 179184433 179184433 single base substitution T C intron_variant BRCA-EU 1 179186972 179186972 single base substitution C G intron_variant BRCA-EU 1 179187677 179187677 single base substitution G A intron_variant BRCA-EU 1 179187946 179187946 single base substitution C T intron_variant BRCA-EU 1 179188353 179188353 insertion of <=200bp - T intron_variant BRCA-EU 1 179189307 179189307 single base substitution C A intron_variant BRCA-EU 1 179189547 179189547 single base substitution T C intron_variant BRCA-EU 1 179189548 179189548 single base substitution C A intron_variant BRCA-EU 1 179189682 179189682 insertion of <=200bp - T intron_variant BRCA-EU 1 179192422 179192422 single base substitution G A intron_variant BRCA-EU 1 179195390 179195390 single base substitution C T intron_variant BRCA-EU 1 179195588 179195588 single base substitution C T intron_variant BRCA-EU 1 179195603 179195603 single base substitution C T intron_variant BRCA-EU 1 179197403 179197403 single base substitution A T intron_variant BRCA-EU 1 179198163 179198163 single base substitution C T intron_variant BRCA-EU 1 179198300 179198300 single base substitution C T intron_variant BRCA-EU 1 179198505 179198505 single base substitution C A stop_gained E10* 28G>T BRCA-EU 1 179198675 179198675 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 179198675 179198675 single base substitution G A upstream_gene_variant BRCA-EU 1 179199650 179199650 insertion of <=200bp - ATATATATATATATATATAT upstream_gene_variant BRCA-EU 1 179199825 179199825 single base substitution T C upstream_gene_variant BRCA-EU 1 179200362 179200362 single base substitution G T upstream_gene_variant BRCA-EU 1 179201108 179201108 single base substitution C G upstream_gene_variant BRCA-EU 1 179202591 179202600 deletion of <=200bp AACTTAGAGG - upstream_gene_variant BRCA-EU 1 179202625 179202625 single base substitution C T upstream_gene_variant BRCA-EU 1 179203651 179203651 single base substitution T A upstream_gene_variant BRCA-FR 1 179064838 179064838 single base substitution C T downstream_gene_variant BRCA-FR 1 179077304 179077304 single base substitution C T downstream_gene_variant BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S1012N 3035G>A BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S1018N 3053G>A BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S1033N 3098G>A BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S894N 2681G>A BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S909N 2726G>A BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S915N 2744G>A BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S930N 2789G>A BRCA-FR 1 179077304 179077304 single base substitution C T missense_variant S997N 2990G>A BRCA-FR 1 179087242 179087242 single base substitution C T intron_variant BRCA-FR 1 179090837 179090837 single base substitution G A exon_variant BRCA-FR 1 179090837 179090837 single base substitution G A stop_gained R249* 745C>T BRCA-FR 1 179090837 179090837 single base substitution G A stop_gained R264* 790C>T BRCA-FR 1 179090837 179090837 single base substitution G A stop_gained R270* 808C>T BRCA-FR 1 179090837 179090837 single base substitution G A stop_gained R285* 853C>T BRCA-FR 1 179101223 179101223 single base substitution C A intron_variant BRCA-FR 1 179104259 179104259 single base substitution G A intron_variant BRCA-FR 1 179106017 179106017 single base substitution C G intron_variant BRCA-FR 1 179106908 179106908 single base substitution A T intron_variant BRCA-FR 1 179133930 179133930 single base substitution G C intron_variant BRCA-FR 1 179161365 179161365 single base substitution G C intron_variant BRCA-FR 1 179169285 179169285 single base substitution G C intron_variant BRCA-FR 1 179169433 179169433 single base substitution C G intron_variant BRCA-FR 1 179170045 179170045 single base substitution G A intron_variant BRCA-FR 1 179182593 179182593 single base substitution C G intron_variant BRCA-FR 1 179184112 179184112 single base substitution T C intron_variant BRCA-FR 1 179189307 179189307 single base substitution C A intron_variant BRCA-FR 1 179198675 179198675 single base substitution G A 5_prime_UTR_variant BRCA-FR 1 179198675 179198675 single base substitution G A upstream_gene_variant BRCA-FR 1 179202997 179202997 single base substitution A C upstream_gene_variant BRCA-UK 1 179072663 179072663 single base substitution G C 3_prime_UTR_variant BRCA-UK 1 179072663 179072663 single base substitution G C downstream_gene_variant BRCA-UK 1 179077898 179077898 single base substitution T G downstream_gene_variant BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K696T 2087A>C BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K711T 2132A>C BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K717T 2150A>C BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K732T 2195A>C BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K799T 2396A>C BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K814T 2441A>C BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K820T 2459A>C BRCA-UK 1 179077898 179077898 single base substitution T G missense_variant K835T 2504A>C BRCA-UK 1 179079923 179079923 single base substitution G T 3_prime_UTR_variant BRCA-UK 1 179079923 179079923 single base substitution G T intron_variant BRCA-UK 1 179087812 179087812 single base substitution C T exon_variant BRCA-UK 1 179087812 179087812 single base substitution C T missense_variant R342Q 1025G>A BRCA-UK 1 179087812 179087812 single base substitution C T missense_variant R357Q 1070G>A BRCA-UK 1 179087812 179087812 single base substitution C T missense_variant R363Q 1088G>A BRCA-UK 1 179087812 179087812 single base substitution C T missense_variant R378Q 1133G>A BRCA-UK 1 179119537 179119537 single base substitution G A intron_variant BRCA-UK 1 179120788 179120788 single base substitution T C intron_variant BRCA-UK 1 179121652 179121652 single base substitution T A intron_variant BRCA-UK 1 179122782 179122782 single base substitution C A intron_variant BRCA-UK 1 179140881 179140881 single base substitution C G intron_variant BRCA-UK 1 179159002 179159002 single base substitution C G intron_variant BRCA-UK 1 179193741 179193741 single base substitution G C intron_variant BRCA-UK 1 179202625 179202625 single base substitution C T upstream_gene_variant BRCA-US 1 179077894 179077894 deletion of <=200bp T - downstream_gene_variant BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K697 BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K712 BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K718 BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K733 BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K800 BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K815 BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K821 BRCA-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K836 BRCA-US 1 179078567 179078567 single base substitution C T downstream_gene_variant BRCA-US 1 179078567 179078567 single base substitution C T missense_variant R576K 1727G>A BRCA-US 1 179078567 179078567 single base substitution C T missense_variant R591K 1772G>A BRCA-US 1 179078567 179078567 single base substitution C T missense_variant R597K 1790G>A BRCA-US 1 179078567 179078567 single base substitution C T missense_variant R612K 1835G>A BRCA-US 1 179079445 179079445 single base substitution T A downstream_gene_variant BRCA-US 1 179079445 179079445 single base substitution T A synonymous_variant T563T 1689A>T BRCA-US 1 179079445 179079445 single base substitution T A synonymous_variant T578T 1734A>T BRCA-US 1 179079445 179079445 single base substitution T A synonymous_variant T584T 1752A>T BRCA-US 1 179079445 179079445 single base substitution T A synonymous_variant T599T 1797A>T BRCA-US 1 179081525 179081525 single base substitution A C downstream_gene_variant BRCA-US 1 179081525 179081525 single base substitution A C missense_variant W488G 1462T>G BRCA-US 1 179081525 179081525 single base substitution A C missense_variant W503G 1507T>G BRCA-US 1 179081525 179081525 single base substitution A C missense_variant W509G 1525T>G BRCA-US 1 179081525 179081525 single base substitution A C missense_variant W524G 1570T>G BRCA-US 1 179086512 179086512 single base substitution C G exon_variant BRCA-US 1 179086512 179086512 single base substitution C G missense_variant E419Q 1255G>C BRCA-US 1 179086512 179086512 single base substitution C G missense_variant E434Q 1300G>C BRCA-US 1 179086512 179086512 single base substitution C G missense_variant E440Q 1318G>C BRCA-US 1 179086512 179086512 single base substitution C G missense_variant E455Q 1363G>C BRCA-US 1 179090960 179090960 single base substitution G A exon_variant BRCA-US 1 179090960 179090960 single base substitution G A missense_variant L208F 622C>T BRCA-US 1 179090960 179090960 single base substitution G A missense_variant L223F 667C>T BRCA-US 1 179090960 179090960 single base substitution G A missense_variant L229F 685C>T BRCA-US 1 179090960 179090960 single base substitution G A missense_variant L244F 730C>T BRCA-US 1 179095520 179095520 single base substitution C A downstream_gene_variant BRCA-US 1 179095520 179095520 single base substitution C A exon_variant BRCA-US 1 179095520 179095520 single base substitution C A missense_variant D191Y 571G>T BRCA-US 1 179095520 179095520 single base substitution C A missense_variant D206Y 616G>T BRCA-US 1 179095520 179095520 single base substitution C A missense_variant D212Y 634G>T BRCA-US 1 179095520 179095520 single base substitution C A missense_variant D227Y 679G>T BRCA-US 1 179095776 179095776 single base substitution C T downstream_gene_variant BRCA-US 1 179095776 179095776 single base substitution C T exon_variant BRCA-US 1 179095776 179095776 single base substitution C T synonymous_variant Q105Q 315G>A BRCA-US 1 179095776 179095776 single base substitution C T synonymous_variant Q120Q 360G>A BRCA-US 1 179095776 179095776 single base substitution C T synonymous_variant Q126Q 378G>A BRCA-US 1 179095776 179095776 single base substitution C T synonymous_variant Q141Q 423G>A BTCA-JP 1 179064185 179064185 single base substitution C T downstream_gene_variant BTCA-JP 1 179077876 179077876 single base substitution A C downstream_gene_variant BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A703A 2109T>G BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A718A 2154T>G BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A724A 2172T>G BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A739A 2217T>G BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A806A 2418T>G BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A821A 2463T>G BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A827A 2481T>G BTCA-JP 1 179077876 179077876 single base substitution A C synonymous_variant A842A 2526T>G BTCA-JP 1 179086421 179086421 single base substitution A T exon_variant BTCA-JP 1 179086421 179086421 single base substitution A T intron_variant BTCA-JP 1 179111990 179111990 single base substitution G T intron_variant CESC-US 1 179077403 179077403 single base substitution G C downstream_gene_variant CESC-US 1 179077403 179077403 single base substitution G C stop_gained S1000* 2999C>G CESC-US 1 179077403 179077403 single base substitution G C stop_gained S861* 2582C>G CESC-US 1 179077403 179077403 single base substitution G C stop_gained S876* 2627C>G CESC-US 1 179077403 179077403 single base substitution G C stop_gained S882* 2645C>G CESC-US 1 179077403 179077403 single base substitution G C stop_gained S897* 2690C>G CESC-US 1 179077403 179077403 single base substitution G C stop_gained S964* 2891C>G CESC-US 1 179077403 179077403 single base substitution G C stop_gained S979* 2936C>G CESC-US 1 179077403 179077403 single base substitution G C stop_gained S985* 2954C>G CESC-US 1 179095626 179095626 single base substitution G A downstream_gene_variant CESC-US 1 179095626 179095626 single base substitution G A exon_variant CESC-US 1 179095626 179095626 single base substitution G A synonymous_variant I155I 465C>T CESC-US 1 179095626 179095626 single base substitution G A synonymous_variant I170I 510C>T CESC-US 1 179095626 179095626 single base substitution G A synonymous_variant I176I 528C>T CESC-US 1 179095626 179095626 single base substitution G A synonymous_variant I191I 573C>T CESC-US 1 179170738 179170738 single base substitution C G intron_variant CLLE-ES 1 179080703 179080703 single base substitution G A intron_variant CLLE-ES 1 179094445 179094445 single base substitution T C intron_variant CLLE-ES 1 179137893 179137893 single base substitution A G intron_variant CLLE-ES 1 179145052 179145052 single base substitution A T intron_variant COAD-US 1 179076915 179076915 single base substitution T C downstream_gene_variant COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1024D 3070A>G COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1039D 3115A>G COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1045D 3133A>G COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1060D 3178A>G COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1127D 3379A>G COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1142D 3424A>G COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1148D 3442A>G COAD-US 1 179076915 179076915 single base substitution T C missense_variant N1163D 3487A>G COAD-US 1 179076921 179076921 single base substitution C T downstream_gene_variant COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1022R 3064G>A COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1037R 3109G>A COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1043R 3127G>A COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1058R 3172G>A COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1125R 3373G>A COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1140R 3418G>A COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1146R 3436G>A COAD-US 1 179076921 179076921 single base substitution C T missense_variant G1161R 3481G>A COAD-US 1 179077199 179077199 single base substitution G A downstream_gene_variant COAD-US 1 179077199 179077199 single base substitution G A missense_variant A1032V 3095C>T COAD-US 1 179077199 179077199 single base substitution G A missense_variant A1047V 3140C>T COAD-US 1 179077199 179077199 single base substitution G A missense_variant A1053V 3158C>T COAD-US 1 179077199 179077199 single base substitution G A missense_variant A1068V 3203C>T COAD-US 1 179077199 179077199 single base substitution G A missense_variant A929V 2786C>T COAD-US 1 179077199 179077199 single base substitution G A missense_variant A944V 2831C>T COAD-US 1 179077199 179077199 single base substitution G A missense_variant A950V 2849C>T COAD-US 1 179077199 179077199 single base substitution G A missense_variant A965V 2894C>T COAD-US 1 179077894 179077894 deletion of <=200bp T - downstream_gene_variant COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K697 COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K712 COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K718 COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K733 COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K800 COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K815 COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K821 COAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K836 COAD-US 1 179078212 179078212 single base substitution G A downstream_gene_variant COAD-US 1 179078212 179078212 single base substitution G A intron_variant COAD-US 1 179078212 179078212 single base substitution G A synonymous_variant D694D 2082C>T COAD-US 1 179078212 179078212 single base substitution G A synonymous_variant D709D 2127C>T COAD-US 1 179078212 179078212 single base substitution G A synonymous_variant D715D 2145C>T COAD-US 1 179078212 179078212 single base substitution G A synonymous_variant D730D 2190C>T COAD-US 1 179078450 179078450 single base substitution C T downstream_gene_variant COAD-US 1 179078450 179078450 single base substitution C T missense_variant G615D 1844G>A COAD-US 1 179078450 179078450 single base substitution C T missense_variant G630D 1889G>A COAD-US 1 179078450 179078450 single base substitution C T missense_variant G636D 1907G>A COAD-US 1 179078450 179078450 single base substitution C T missense_variant G651D 1952G>A COAD-US 1 179081509 179081509 single base substitution C A downstream_gene_variant COAD-US 1 179081509 179081509 single base substitution C A missense_variant R493M 1478G>T COAD-US 1 179081509 179081509 single base substitution C A missense_variant R508M 1523G>T COAD-US 1 179081509 179081509 single base substitution C A missense_variant R514M 1541G>T COAD-US 1 179081509 179081509 single base substitution C A missense_variant R529M 1586G>T COAD-US 1 179084038 179084038 insertion of <=200bp - G downstream_gene_variant COAD-US 1 179084038 179084038 insertion of <=200bp - G frameshift_variant P476P? COAD-US 1 179084038 179084038 insertion of <=200bp - G frameshift_variant P491P? COAD-US 1 179084038 179084038 insertion of <=200bp - G frameshift_variant P497P? COAD-US 1 179084038 179084038 insertion of <=200bp - G frameshift_variant P512P? COAD-US 1 179084080 179084080 single base substitution T G downstream_gene_variant COAD-US 1 179084080 179084080 single base substitution T G synonymous_variant L462L 1386A>C COAD-US 1 179084080 179084080 single base substitution T G synonymous_variant L477L 1431A>C COAD-US 1 179084080 179084080 single base substitution T G synonymous_variant L483L 1449A>C COAD-US 1 179084080 179084080 single base substitution T G synonymous_variant L498L 1494A>C COAD-US 1 179087844 179087844 single base substitution C T exon_variant COAD-US 1 179087844 179087844 single base substitution C T synonymous_variant G331G 993G>A COAD-US 1 179087844 179087844 single base substitution C T synonymous_variant G346G 1038G>A COAD-US 1 179087844 179087844 single base substitution C T synonymous_variant G352G 1056G>A COAD-US 1 179087844 179087844 single base substitution C T synonymous_variant G367G 1101G>A COAD-US 1 179089402 179089402 single base substitution G A exon_variant COAD-US 1 179089402 179089402 single base substitution G A missense_variant T287I 860C>T COAD-US 1 179089402 179089402 single base substitution G A missense_variant T302I 905C>T COAD-US 1 179089402 179089402 single base substitution G A missense_variant T308I 923C>T COAD-US 1 179089402 179089402 single base substitution G A missense_variant T323I 968C>T COAD-US 1 179090761 179090761 single base substitution T C exon_variant COAD-US 1 179090761 179090761 single base substitution T C missense_variant Y274C 821A>G COAD-US 1 179090761 179090761 single base substitution T C missense_variant Y289C 866A>G COAD-US 1 179090761 179090761 single base substitution T C missense_variant Y295C 884A>G COAD-US 1 179090761 179090761 single base substitution T C missense_variant Y310C 929A>G COAD-US 1 179090803 179090803 deletion of <=200bp C - exon_variant COAD-US 1 179090803 179090803 deletion of <=200bp C - frameshift_variant G260 COAD-US 1 179090803 179090803 deletion of <=200bp C - frameshift_variant G275 COAD-US 1 179090803 179090803 deletion of <=200bp C - frameshift_variant G281 COAD-US 1 179090803 179090803 deletion of <=200bp C - frameshift_variant G296 COAD-US 1 179095699 179095699 single base substitution C T downstream_gene_variant COAD-US 1 179095699 179095699 single base substitution C T exon_variant COAD-US 1 179095699 179095699 single base substitution C T missense_variant S131N 392G>A COAD-US 1 179095699 179095699 single base substitution C T missense_variant S146N 437G>A COAD-US 1 179095699 179095699 single base substitution C T missense_variant S152N 455G>A COAD-US 1 179095699 179095699 single base substitution C T missense_variant S167N 500G>A COAD-US 1 179100566 179100566 single base substitution C A exon_variant COAD-US 1 179100566 179100566 single base substitution C A stop_gained E55* 163G>T COAD-US 1 179100566 179100566 single base substitution C A stop_gained E70* 208G>T COAD-US 1 179100566 179100566 single base substitution C A stop_gained E76* 226G>T COAD-US 1 179100566 179100566 single base substitution C A stop_gained E91* 271G>T COAD-US 1 179100582 179100582 single base substitution T C exon_variant COAD-US 1 179100582 179100582 single base substitution T C synonymous_variant E49E 147A>G COAD-US 1 179100582 179100582 single base substitution T C synonymous_variant E64E 192A>G COAD-US 1 179100582 179100582 single base substitution T C synonymous_variant E70E 210A>G COAD-US 1 179100582 179100582 single base substitution T C synonymous_variant E85E 255A>G COCA-CN 1 179077969 179077969 single base substitution C T downstream_gene_variant COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q672Q 2016G>A COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q687Q 2061G>A COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q693Q 2079G>A COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q708Q 2124G>A COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q775Q 2325G>A COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q790Q 2370G>A COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q796Q 2388G>A COCA-CN 1 179077969 179077969 single base substitution C T synonymous_variant Q811Q 2433G>A COCA-CN 1 179078450 179078450 single base substitution C G downstream_gene_variant COCA-CN 1 179078450 179078450 single base substitution C G missense_variant G615A 1844G>C COCA-CN 1 179078450 179078450 single base substitution C G missense_variant G630A 1889G>C COCA-CN 1 179078450 179078450 single base substitution C G missense_variant G636A 1907G>C COCA-CN 1 179078450 179078450 single base substitution C G missense_variant G651A 1952G>C COCA-CN 1 179079621 179079621 single base substitution G T downstream_gene_variant COCA-CN 1 179079621 179079621 single base substitution G T intron_variant COCA-CN 1 179080046 179080046 single base substitution C T intron_variant COCA-CN 1 179084186 179084186 single base substitution A G downstream_gene_variant COCA-CN 1 179084186 179084186 single base substitution A G intron_variant COCA-CN 1 179084187 179084187 single base substitution G T downstream_gene_variant COCA-CN 1 179084187 179084187 single base substitution G T intron_variant COCA-CN 1 179086474 179086474 single base substitution G A exon_variant COCA-CN 1 179086474 179086474 single base substitution G A synonymous_variant D431D 1293C>T COCA-CN 1 179086474 179086474 single base substitution G A synonymous_variant D446D 1338C>T COCA-CN 1 179086474 179086474 single base substitution G A synonymous_variant D452D 1356C>T COCA-CN 1 179086474 179086474 single base substitution G A synonymous_variant D467D 1401C>T COCA-CN 1 179086537 179086537 single base substitution T G exon_variant COCA-CN 1 179086537 179086537 single base substitution T G missense_variant K410N 1230A>C COCA-CN 1 179086537 179086537 single base substitution T G missense_variant K425N 1275A>C COCA-CN 1 179086537 179086537 single base substitution T G missense_variant K431N 1293A>C COCA-CN 1 179086537 179086537 single base substitution T G missense_variant K446N 1338A>C COCA-CN 1 179086608 179086608 single base substitution C T exon_variant COCA-CN 1 179086608 179086608 single base substitution C T missense_variant V387I 1159G>A COCA-CN 1 179086608 179086608 single base substitution C T missense_variant V402I 1204G>A COCA-CN 1 179086608 179086608 single base substitution C T missense_variant V408I 1222G>A COCA-CN 1 179086608 179086608 single base substitution C T missense_variant V423I 1267G>A COCA-CN 1 179087813 179087813 single base substitution G A exon_variant COCA-CN 1 179087813 179087813 single base substitution G A stop_gained R342* 1024C>T COCA-CN 1 179087813 179087813 single base substitution G A stop_gained R357* 1069C>T COCA-CN 1 179087813 179087813 single base substitution G A stop_gained R363* 1087C>T COCA-CN 1 179087813 179087813 single base substitution G A stop_gained R378* 1132C>T COCA-CN 1 179089240 179089240 single base substitution A G intron_variant COCA-CN 1 179090802 179090802 single base substitution G A exon_variant COCA-CN 1 179090802 179090802 single base substitution G A synonymous_variant G260G 780C>T COCA-CN 1 179090802 179090802 single base substitution G A synonymous_variant G275G 825C>T COCA-CN 1 179090802 179090802 single base substitution G A synonymous_variant G281G 843C>T COCA-CN 1 179090802 179090802 single base substitution G A synonymous_variant G296G 888C>T COCA-CN 1 179095660 179095660 single base substitution C T downstream_gene_variant COCA-CN 1 179095660 179095660 single base substitution C T exon_variant COCA-CN 1 179095660 179095660 single base substitution C T missense_variant R144H 431G>A COCA-CN 1 179095660 179095660 single base substitution C T missense_variant R159H 476G>A COCA-CN 1 179095660 179095660 single base substitution C T missense_variant R165H 494G>A COCA-CN 1 179095660 179095660 single base substitution C T missense_variant R180H 539G>A COCA-CN 1 179102510 179102510 single base substitution C A intron_variant COCA-CN 1 179102510 179102510 single base substitution C A splice_acceptor_variant COCA-CN 1 179112111 179112111 single base substitution G A exon_variant COCA-CN 1 179112111 179112111 single base substitution G A intron_variant COCA-CN 1 179112111 179112111 single base substitution G A synonymous_variant C23C 69C>T COCA-CN 1 179165921 179165921 single base substitution C A intron_variant EOPC-DE 1 179131868 179131868 single base substitution G C intron_variant ESAD-UK 1 179064540 179064540 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 179065909 179065909 single base substitution G A downstream_gene_variant ESAD-UK 1 179068438 179068438 single base substitution G A downstream_gene_variant ESAD-UK 1 179069070 179069070 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 179069070 179069070 single base substitution G A downstream_gene_variant ESAD-UK 1 179071315 179071315 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 179071315 179071315 single base substitution T G downstream_gene_variant ESAD-UK 1 179072441 179072441 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 179072441 179072441 single base substitution G A downstream_gene_variant ESAD-UK 1 179072689 179072689 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 179072689 179072689 single base substitution T C downstream_gene_variant ESAD-UK 1 179073026 179073026 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 179073026 179073026 single base substitution C A downstream_gene_variant ESAD-UK 1 179074503 179074503 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 179074503 179074503 single base substitution C T downstream_gene_variant ESAD-UK 1 179074568 179074568 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 179074568 179074568 single base substitution C T downstream_gene_variant ESAD-UK 1 179079502 179079502 single base substitution C T downstream_gene_variant ESAD-UK 1 179079502 179079502 single base substitution C T synonymous_variant R544R 1632G>A ESAD-UK 1 179079502 179079502 single base substitution C T synonymous_variant R559R 1677G>A ESAD-UK 1 179079502 179079502 single base substitution C T synonymous_variant R565R 1695G>A ESAD-UK 1 179079502 179079502 single base substitution C T synonymous_variant R580R 1740G>A ESAD-UK 1 179080878 179080878 single base substitution A C intron_variant ESAD-UK 1 179081851 179081851 single base substitution A C downstream_gene_variant ESAD-UK 1 179081851 179081851 single base substitution A C intron_variant ESAD-UK 1 179082935 179082935 single base substitution G A downstream_gene_variant ESAD-UK 1 179082935 179082935 single base substitution G A intron_variant ESAD-UK 1 179083305 179083305 single base substitution G A downstream_gene_variant ESAD-UK 1 179083305 179083305 single base substitution G A intron_variant ESAD-UK 1 179084760 179084760 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 179084760 179084760 deletion of <=200bp A - intron_variant ESAD-UK 1 179087129 179087129 deletion of <=200bp A - intron_variant ESAD-UK 1 179087484 179087484 single base substitution T C intron_variant ESAD-UK 1 179090780 179090780 single base substitution C T exon_variant ESAD-UK 1 179090780 179090780 single base substitution C T missense_variant V268I 802G>A ESAD-UK 1 179090780 179090780 single base substitution C T missense_variant V283I 847G>A ESAD-UK 1 179090780 179090780 single base substitution C T missense_variant V289I 865G>A ESAD-UK 1 179090780 179090780 single base substitution C T missense_variant V304I 910G>A ESAD-UK 1 179092672 179092672 single base substitution G A intron_variant ESAD-UK 1 179094003 179094003 single base substitution A C intron_variant ESAD-UK 1 179095981 179095981 single base substitution T A downstream_gene_variant ESAD-UK 1 179095981 179095981 single base substitution T A intron_variant ESAD-UK 1 179097488 179097488 single base substitution G C downstream_gene_variant ESAD-UK 1 179097488 179097488 single base substitution G C intron_variant ESAD-UK 1 179101810 179101810 single base substitution G A intron_variant ESAD-UK 1 179104000 179104000 single base substitution G A intron_variant ESAD-UK 1 179104983 179104983 single base substitution C G intron_variant ESAD-UK 1 179105879 179105879 insertion of <=200bp - AT intron_variant ESAD-UK 1 179106727 179106727 single base substitution A G intron_variant ESAD-UK 1 179107747 179107747 single base substitution C G intron_variant ESAD-UK 1 179108520 179108520 single base substitution A C intron_variant ESAD-UK 1 179113778 179113778 deletion of <=200bp A - intron_variant ESAD-UK 1 179113778 179113778 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 179113781 179113801 deletion of <=200bp TTAACCTTATTAGAGAAAGAA - intron_variant ESAD-UK 1 179113781 179113801 deletion of <=200bp TTAACCTTATTAGAGAAAGAA - upstream_gene_variant ESAD-UK 1 179118782 179118782 single base substitution C A intron_variant ESAD-UK 1 179119211 179119211 single base substitution A T intron_variant ESAD-UK 1 179119214 179119214 single base substitution T A intron_variant ESAD-UK 1 179120634 179120634 single base substitution C T intron_variant ESAD-UK 1 179121753 179121753 single base substitution G A intron_variant ESAD-UK 1 179121898 179121898 single base substitution G C intron_variant ESAD-UK 1 179124183 179124183 single base substitution T C intron_variant ESAD-UK 1 179125251 179125251 single base substitution A C intron_variant ESAD-UK 1 179129452 179129452 single base substitution C A intron_variant ESAD-UK 1 179129794 179129794 single base substitution A C intron_variant ESAD-UK 1 179131477 179131477 single base substitution C T intron_variant ESAD-UK 1 179131731 179131731 single base substitution A T intron_variant ESAD-UK 1 179132194 179132194 single base substitution A G intron_variant ESAD-UK 1 179136942 179136942 single base substitution C A intron_variant ESAD-UK 1 179137069 179137069 single base substitution G A intron_variant ESAD-UK 1 179138959 179138959 single base substitution A C intron_variant ESAD-UK 1 179139078 179139078 single base substitution C G intron_variant ESAD-UK 1 179139164 179139175 deletion of <=200bp AACAACAACAAC - intron_variant ESAD-UK 1 179141292 179141292 single base substitution G A intron_variant ESAD-UK 1 179142576 179142576 single base substitution C A intron_variant ESAD-UK 1 179142886 179142886 single base substitution A G intron_variant ESAD-UK 1 179144492 179144492 single base substitution T A intron_variant ESAD-UK 1 179145054 179145054 single base substitution G A intron_variant ESAD-UK 1 179145144 179145144 single base substitution C G intron_variant ESAD-UK 1 179145383 179145383 single base substitution G A intron_variant ESAD-UK 1 179147896 179147896 deletion of <=200bp G - intron_variant ESAD-UK 1 179149660 179149660 single base substitution C G intron_variant ESAD-UK 1 179152771 179152771 single base substitution G A intron_variant ESAD-UK 1 179153404 179153404 single base substitution T C intron_variant ESAD-UK 1 179154590 179154590 single base substitution A T intron_variant ESAD-UK 1 179159590 179159590 single base substitution G C intron_variant ESAD-UK 1 179164662 179164662 insertion of <=200bp - TA intron_variant ESAD-UK 1 179164896 179164896 single base substitution T A intron_variant ESAD-UK 1 179165921 179165921 single base substitution C A intron_variant ESAD-UK 1 179165922 179165922 single base substitution A C intron_variant ESAD-UK 1 179166496 179166496 single base substitution T C intron_variant ESAD-UK 1 179167513 179167513 single base substitution A G intron_variant ESAD-UK 1 179167554 179167554 single base substitution C T intron_variant ESAD-UK 1 179168798 179168798 single base substitution A G intron_variant ESAD-UK 1 179170569 179170569 single base substitution A G intron_variant ESAD-UK 1 179170839 179170839 single base substitution C A intron_variant ESAD-UK 1 179179015 179179015 insertion of <=200bp - TA intron_variant ESAD-UK 1 179180494 179180494 single base substitution A T intron_variant ESAD-UK 1 179184525 179184525 single base substitution G C intron_variant ESAD-UK 1 179188955 179188955 single base substitution C T intron_variant ESAD-UK 1 179189738 179189738 single base substitution T A intron_variant ESAD-UK 1 179192785 179192785 single base substitution T A intron_variant ESAD-UK 1 179193653 179193653 single base substitution G A intron_variant ESAD-UK 1 179194165 179194165 single base substitution T C intron_variant ESAD-UK 1 179196604 179196604 single base substitution T A intron_variant ESCA-CN 1 179080113 179080113 single base substitution G T intron_variant ESCA-CN 1 179086419 179086419 insertion of <=200bp - A exon_variant ESCA-CN 1 179086419 179086419 insertion of <=200bp - A intron_variant ESCA-CN 1 179095796 179095796 deletion of <=200bp G - downstream_gene_variant ESCA-CN 1 179095796 179095796 deletion of <=200bp G - exon_variant ESCA-CN 1 179095796 179095796 deletion of <=200bp G - frameshift_variant R114 ESCA-CN 1 179095796 179095796 deletion of <=200bp G - frameshift_variant R120 ESCA-CN 1 179095796 179095796 deletion of <=200bp G - frameshift_variant R135 ESCA-CN 1 179095796 179095796 deletion of <=200bp G - frameshift_variant R99 GBM-US 1 179077669 179077669 single base substitution C T downstream_gene_variant GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P772P 2316G>A GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P787P 2361G>A GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P793P 2379G>A GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P808P 2424G>A GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P875P 2625G>A GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P890P 2670G>A GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P896P 2688G>A GBM-US 1 179077669 179077669 single base substitution C T synonymous_variant P911P 2733G>A GBM-US 1 179084044 179084044 single base substitution G A downstream_gene_variant GBM-US 1 179084044 179084044 single base substitution G A synonymous_variant C474C 1422C>T GBM-US 1 179084044 179084044 single base substitution G A synonymous_variant C489C 1467C>T GBM-US 1 179084044 179084044 single base substitution G A synonymous_variant C495C 1485C>T GBM-US 1 179084044 179084044 single base substitution G A synonymous_variant C510C 1530C>T GBM-US 1 179086548 179086548 single base substitution C T exon_variant GBM-US 1 179086548 179086548 single base substitution C T missense_variant A407T 1219G>A GBM-US 1 179086548 179086548 single base substitution C T missense_variant A422T 1264G>A GBM-US 1 179086548 179086548 single base substitution C T missense_variant A428T 1282G>A GBM-US 1 179086548 179086548 single base substitution C T missense_variant A443T 1327G>A GBM-US 1 179090932 179090932 single base substitution T C exon_variant GBM-US 1 179090932 179090932 single base substitution T C missense_variant D217G 650A>G GBM-US 1 179090932 179090932 single base substitution T C missense_variant D232G 695A>G GBM-US 1 179090932 179090932 single base substitution T C missense_variant D238G 713A>G GBM-US 1 179090932 179090932 single base substitution T C missense_variant D253G 758A>G KIRC-US 1 179090792 179090792 single base substitution C T exon_variant KIRC-US 1 179090792 179090792 single base substitution C T missense_variant G264R 790G>A KIRC-US 1 179090792 179090792 single base substitution C T missense_variant G279R 835G>A KIRC-US 1 179090792 179090792 single base substitution C T missense_variant G285R 853G>A KIRC-US 1 179090792 179090792 single base substitution C T missense_variant G300R 898G>A KIRC-US 1 179100500 179100500 single base substitution C A exon_variant KIRC-US 1 179100500 179100500 single base substitution C A missense_variant V113F 337G>T KIRC-US 1 179100500 179100500 single base substitution C A missense_variant V77F 229G>T KIRC-US 1 179100500 179100500 single base substitution C A missense_variant V92F 274G>T KIRC-US 1 179100500 179100500 single base substitution C A missense_variant V98F 292G>T KIRP-US 1 179076969 179076969 single base substitution G T downstream_gene_variant KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1006I 3016C>A KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1021I 3061C>A KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1027I 3079C>A KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1042I 3124C>A KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1109I 3325C>A KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1124I 3370C>A KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1130I 3388C>A KIRP-US 1 179076969 179076969 single base substitution G T missense_variant L1145I 3433C>A LAML-KR 1 179077111 179077111 single base substitution G A downstream_gene_variant LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S1061S 3183C>T LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S1076S 3228C>T LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S1082S 3246C>T LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S1097S 3291C>T LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S958S 2874C>T LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S973S 2919C>T LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S979S 2937C>T LAML-KR 1 179077111 179077111 single base substitution G A synonymous_variant S994S 2982C>T LAML-KR 1 179086363 179086363 single base substitution T G exon_variant LAML-KR 1 179086363 179086363 single base substitution T G intron_variant LAML-KR 1 179087925 179087925 single base substitution T C intron_variant LAML-KR 1 179101954 179101954 single base substitution G A intron_variant LAML-KR 1 179104890 179104890 single base substitution T C intron_variant LAML-KR 1 179171129 179171129 single base substitution A G intron_variant LAML-KR 1 179174180 179174180 single base substitution G T intron_variant LAML-KR 1 179197100 179197100 single base substitution G A intron_variant LGG-US 1 179084144 179084144 single base substitution T A downstream_gene_variant LGG-US 1 179084144 179084144 single base substitution T A missense_variant E441V 1322A>T LGG-US 1 179084144 179084144 single base substitution T A missense_variant E456V 1367A>T LGG-US 1 179084144 179084144 single base substitution T A missense_variant E462V 1385A>T LGG-US 1 179084144 179084144 single base substitution T A missense_variant E477V 1430A>T LICA-CN 1 179078539 179078539 single base substitution T A downstream_gene_variant LICA-CN 1 179078539 179078539 single base substitution T A synonymous_variant P585P 1755A>T LICA-CN 1 179078539 179078539 single base substitution T A synonymous_variant P600P 1800A>T LICA-CN 1 179078539 179078539 single base substitution T A synonymous_variant P606P 1818A>T LICA-CN 1 179078539 179078539 single base substitution T A synonymous_variant P621P 1863A>T LICA-CN 1 179100597 179100597 single base substitution A C exon_variant LICA-CN 1 179100597 179100597 single base substitution A C stop_gained Y44* 132T>G LICA-CN 1 179100597 179100597 single base substitution A C stop_gained Y59* 177T>G LICA-CN 1 179100597 179100597 single base substitution A C stop_gained Y65* 195T>G LICA-CN 1 179100597 179100597 single base substitution A C stop_gained Y80* 240T>G LICA-FR 1 179064359 179064359 single base substitution A T downstream_gene_variant LICA-FR 1 179067499 179067499 deletion of <=200bp A - downstream_gene_variant LICA-FR 1 179071100 179071100 single base substitution G A 3_prime_UTR_variant LICA-FR 1 179071100 179071100 single base substitution G A downstream_gene_variant LICA-FR 1 179083024 179083024 single base substitution G A downstream_gene_variant LICA-FR 1 179083024 179083024 single base substitution G A intron_variant LICA-FR 1 179086550 179086550 insertion of <=200bp - TAAGCAGTATAAG exon_variant LICA-FR 1 179086550 179086550 insertion of <=200bp - TAAGCAGTATAAG frameshift_variant H406HLYCL? LICA-FR 1 179086550 179086550 insertion of <=200bp - TAAGCAGTATAAG frameshift_variant H421HLYCL? LICA-FR 1 179086550 179086550 insertion of <=200bp - TAAGCAGTATAAG frameshift_variant H427HLYCL? LICA-FR 1 179086550 179086550 insertion of <=200bp - TAAGCAGTATAAG frameshift_variant H442HLYCL? LICA-FR 1 179086551 179086551 single base substitution G A exon_variant LICA-FR 1 179086551 179086551 single base substitution G A missense_variant H406Y 1216C>T LICA-FR 1 179086551 179086551 single base substitution G A missense_variant H421Y 1261C>T LICA-FR 1 179086551 179086551 single base substitution G A missense_variant H427Y 1279C>T LICA-FR 1 179086551 179086551 single base substitution G A missense_variant H442Y 1324C>T LICA-FR 1 179106689 179106689 single base substitution T C intron_variant LICA-FR 1 179108809 179108809 single base substitution C T intron_variant LICA-FR 1 179147537 179147537 deletion of <=200bp A - intron_variant LICA-FR 1 179163442 179163442 single base substitution T C intron_variant LICA-FR 1 179177142 179177142 single base substitution T C intron_variant LICA-FR 1 179185902 179185902 single base substitution T C intron_variant LICA-FR 1 179188187 179188187 insertion of <=200bp - TTTC intron_variant LICA-FR 1 179190960 179190960 single base substitution A G intron_variant LICA-FR 1 179201049 179201049 insertion of <=200bp - TATA upstream_gene_variant LINC-JP 1 179064201 179064201 single base substitution C T downstream_gene_variant LINC-JP 1 179066835 179066835 single base substitution A T downstream_gene_variant LINC-JP 1 179077653 179077653 single base substitution C T downstream_gene_variant LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A778T 2332G>A LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A793T 2377G>A LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A799T 2395G>A LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A814T 2440G>A LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A881T 2641G>A LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A896T 2686G>A LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A902T 2704G>A LINC-JP 1 179077653 179077653 single base substitution C T missense_variant A917T 2749G>A LINC-JP 1 179077992 179077992 single base substitution T A downstream_gene_variant LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N665Y 1993A>T LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N680Y 2038A>T LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N686Y 2056A>T LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N701Y 2101A>T LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N768Y 2302A>T LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N783Y 2347A>T LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N789Y 2365A>T LINC-JP 1 179077992 179077992 single base substitution T A missense_variant N804Y 2410A>T LINC-JP 1 179086477 179086477 single base substitution A C exon_variant LINC-JP 1 179086477 179086477 single base substitution A C synonymous_variant S430S 1290T>G LINC-JP 1 179086477 179086477 single base substitution A C synonymous_variant S445S 1335T>G LINC-JP 1 179086477 179086477 single base substitution A C synonymous_variant S451S 1353T>G LINC-JP 1 179086477 179086477 single base substitution A C synonymous_variant S466S 1398T>G LINC-JP 1 179087606 179087606 single base substitution A C intron_variant LINC-JP 1 179100087 179100087 single base substitution C T downstream_gene_variant LINC-JP 1 179100087 179100087 single base substitution C T intron_variant LINC-JP 1 179102814 179102814 single base substitution C A intron_variant LINC-JP 1 179112403 179112403 single base substitution T C intron_variant LINC-JP 1 179112403 179112403 single base substitution T C upstream_gene_variant LINC-JP 1 179117413 179117413 single base substitution C T intron_variant LINC-JP 1 179137719 179137719 single base substitution A G intron_variant LINC-JP 1 179143353 179143353 single base substitution G A intron_variant LINC-JP 1 179148596 179148596 deletion of <=200bp T - intron_variant LINC-JP 1 179148804 179148804 single base substitution C T intron_variant LINC-JP 1 179165405 179165405 deletion of <=200bp G - intron_variant LINC-JP 1 179176304 179176304 deletion of <=200bp T - intron_variant LINC-JP 1 179179469 179179469 single base substitution C T intron_variant LINC-JP 1 179188777 179188777 single base substitution G C intron_variant LINC-JP 1 179193269 179193269 single base substitution C A intron_variant LINC-JP 1 179198790 179198790 single base substitution A G 5_prime_UTR_variant LINC-JP 1 179198790 179198790 single base substitution A G upstream_gene_variant LINC-JP 1 179198796 179198796 single base substitution G A 5_prime_UTR_variant LINC-JP 1 179198796 179198796 single base substitution G A upstream_gene_variant LINC-JP 1 179200237 179200237 single base substitution G T upstream_gene_variant LINC-JP 1 179201072 179201072 single base substitution T A upstream_gene_variant LIRI-JP 1 179064352 179064352 single base substitution G A downstream_gene_variant LIRI-JP 1 179064746 179064746 single base substitution T G downstream_gene_variant LIRI-JP 1 179065354 179065361 deletion of <=200bp ATATGAAA - downstream_gene_variant LIRI-JP 1 179066856 179066856 single base substitution A C downstream_gene_variant LIRI-JP 1 179067902 179067902 single base substitution A C downstream_gene_variant LIRI-JP 1 179069614 179069614 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 179069614 179069614 single base substitution G A downstream_gene_variant LIRI-JP 1 179069755 179069755 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 1 179069755 179069755 deletion of <=200bp A - downstream_gene_variant LIRI-JP 1 179069762 179069762 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 179069762 179069762 single base substitution T G downstream_gene_variant LIRI-JP 1 179071172 179071172 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 179071172 179071172 single base substitution G A downstream_gene_variant LIRI-JP 1 179072238 179072238 single base substitution G C 3_prime_UTR_variant LIRI-JP 1 179072238 179072238 single base substitution G C downstream_gene_variant LIRI-JP 1 179073286 179073286 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 179073286 179073286 single base substitution T C downstream_gene_variant LIRI-JP 1 179073838 179073838 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 1 179073838 179073838 deletion of <=200bp T - downstream_gene_variant LIRI-JP 1 179074208 179074208 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 179074208 179074208 single base substitution G T downstream_gene_variant LIRI-JP 1 179076118 179076118 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 179076118 179076118 single base substitution G A downstream_gene_variant LIRI-JP 1 179078895 179078895 single base substitution C T downstream_gene_variant LIRI-JP 1 179078895 179078895 single base substitution C T intron_variant LIRI-JP 1 179079711 179079711 single base substitution C T downstream_gene_variant LIRI-JP 1 179079711 179079711 single base substitution C T intron_variant LIRI-JP 1 179079713 179079713 single base substitution G T downstream_gene_variant LIRI-JP 1 179079713 179079713 single base substitution G T intron_variant LIRI-JP 1 179084044 179084044 single base substitution G A downstream_gene_variant LIRI-JP 1 179084044 179084044 single base substitution G A synonymous_variant C474C 1422C>T LIRI-JP 1 179084044 179084044 single base substitution G A synonymous_variant C489C 1467C>T LIRI-JP 1 179084044 179084044 single base substitution G A synonymous_variant C495C 1485C>T LIRI-JP 1 179084044 179084044 single base substitution G A synonymous_variant C510C 1530C>T LIRI-JP 1 179089902 179089902 single base substitution G C intron_variant LIRI-JP 1 179090100 179090100 single base substitution A T intron_variant LIRI-JP 1 179092694 179092694 single base substitution T A intron_variant LIRI-JP 1 179096153 179096153 insertion of <=200bp - A downstream_gene_variant LIRI-JP 1 179096153 179096153 insertion of <=200bp - A intron_variant LIRI-JP 1 179097214 179097214 single base substitution T C downstream_gene_variant LIRI-JP 1 179097214 179097214 single base substitution T C intron_variant LIRI-JP 1 179098246 179098246 single base substitution A C downstream_gene_variant LIRI-JP 1 179098246 179098246 single base substitution A C intron_variant LIRI-JP 1 179098453 179098453 single base substitution A T downstream_gene_variant LIRI-JP 1 179098453 179098453 single base substitution A T intron_variant LIRI-JP 1 179098998 179098998 deletion of <=200bp T - downstream_gene_variant LIRI-JP 1 179098998 179098998 deletion of <=200bp T - intron_variant LIRI-JP 1 179106812 179106812 single base substitution T C intron_variant LIRI-JP 1 179108130 179108130 single base substitution C T intron_variant LIRI-JP 1 179108972 179108972 single base substitution A T intron_variant LIRI-JP 1 179111207 179111207 single base substitution G A intron_variant LIRI-JP 1 179113464 179113464 single base substitution G A intron_variant LIRI-JP 1 179113464 179113464 single base substitution G A upstream_gene_variant LIRI-JP 1 179114391 179114391 single base substitution T C intron_variant LIRI-JP 1 179114391 179114391 single base substitution T C upstream_gene_variant LIRI-JP 1 179114712 179114712 single base substitution T C intron_variant LIRI-JP 1 179114712 179114712 single base substitution T C upstream_gene_variant LIRI-JP 1 179119930 179119930 single base substitution A T intron_variant LIRI-JP 1 179122170 179122170 single base substitution A G intron_variant LIRI-JP 1 179126525 179126525 single base substitution G A intron_variant LIRI-JP 1 179127888 179127888 single base substitution C T intron_variant LIRI-JP 1 179128516 179128516 single base substitution A G intron_variant LIRI-JP 1 179130180 179130180 single base substitution T A intron_variant LIRI-JP 1 179133541 179133541 insertion of <=200bp - T intron_variant LIRI-JP 1 179133721 179133721 single base substitution A G intron_variant LIRI-JP 1 179135228 179135228 single base substitution G A intron_variant LIRI-JP 1 179136751 179136751 single base substitution A T intron_variant LIRI-JP 1 179137261 179137261 single base substitution T C intron_variant LIRI-JP 1 179137273 179137273 single base substitution G A intron_variant LIRI-JP 1 179138203 179138203 single base substitution T A intron_variant LIRI-JP 1 179140311 179140311 single base substitution T C intron_variant LIRI-JP 1 179141130 179141130 single base substitution G T intron_variant LIRI-JP 1 179141194 179141194 single base substitution T C intron_variant LIRI-JP 1 179143147 179143147 single base substitution G A intron_variant LIRI-JP 1 179143736 179143736 single base substitution T C intron_variant LIRI-JP 1 179143964 179143964 single base substitution A C intron_variant LIRI-JP 1 179144471 179144471 single base substitution C A intron_variant LIRI-JP 1 179145616 179145616 single base substitution C A intron_variant LIRI-JP 1 179148352 179148352 single base substitution G T intron_variant LIRI-JP 1 179148621 179148621 single base substitution T A intron_variant LIRI-JP 1 179149228 179149228 single base substitution C G intron_variant LIRI-JP 1 179149401 179149401 single base substitution A C intron_variant LIRI-JP 1 179150070 179150070 single base substitution T C intron_variant LIRI-JP 1 179150221 179150221 single base substitution G T intron_variant LIRI-JP 1 179150529 179150529 single base substitution T C intron_variant LIRI-JP 1 179151694 179151694 single base substitution A G intron_variant LIRI-JP 1 179153456 179153456 single base substitution T C intron_variant LIRI-JP 1 179154477 179154480 deletion of <=200bp CCTA - intron_variant LIRI-JP 1 179154530 179154530 single base substitution G C intron_variant LIRI-JP 1 179156259 179156259 single base substitution G T intron_variant LIRI-JP 1 179157651 179157651 single base substitution C T intron_variant LIRI-JP 1 179159936 179159936 single base substitution C T intron_variant LIRI-JP 1 179162280 179162280 deletion of <=200bp C - intron_variant LIRI-JP 1 179162562 179162562 single base substitution A G intron_variant LIRI-JP 1 179163973 179163973 single base substitution T C intron_variant LIRI-JP 1 179167143 179167143 single base substitution T C intron_variant LIRI-JP 1 179167260 179167260 single base substitution G T intron_variant LIRI-JP 1 179168423 179168423 single base substitution C T intron_variant LIRI-JP 1 179168852 179168852 single base substitution C A intron_variant LIRI-JP 1 179168937 179168937 single base substitution G A intron_variant LIRI-JP 1 179169781 179169781 single base substitution G A intron_variant LIRI-JP 1 179171043 179171043 single base substitution T C intron_variant LIRI-JP 1 179171120 179171120 single base substitution C T intron_variant LIRI-JP 1 179172929 179172929 single base substitution T A intron_variant LIRI-JP 1 179173751 179173751 single base substitution G A intron_variant LIRI-JP 1 179174986 179174986 single base substitution A G intron_variant LIRI-JP 1 179174987 179174987 single base substitution A G intron_variant LIRI-JP 1 179175366 179175366 single base substitution A G intron_variant LIRI-JP 1 179175901 179175901 single base substitution C A intron_variant LIRI-JP 1 179181527 179181527 single base substitution G A intron_variant LIRI-JP 1 179182444 179182444 single base substitution C T intron_variant LIRI-JP 1 179182610 179182610 single base substitution T C intron_variant LIRI-JP 1 179183377 179183377 single base substitution C G intron_variant LIRI-JP 1 179183475 179183475 single base substitution T G intron_variant LIRI-JP 1 179188067 179188067 single base substitution A C intron_variant LIRI-JP 1 179188589 179188589 single base substitution T C intron_variant LIRI-JP 1 179190105 179190105 single base substitution T A intron_variant LIRI-JP 1 179190652 179190652 single base substitution G T intron_variant LIRI-JP 1 179191826 179191834 deletion of <=200bp AAACTCACC - intron_variant LIRI-JP 1 179195581 179195581 single base substitution C T intron_variant LIRI-JP 1 179195582 179195582 single base substitution T A intron_variant LIRI-JP 1 179197242 179197242 single base substitution G A intron_variant LIRI-JP 1 179197745 179197745 single base substitution T C intron_variant LIRI-JP 1 179197764 179197764 single base substitution C T intron_variant LIRI-JP 1 179197869 179197869 single base substitution G T intron_variant LIRI-JP 1 179199365 179199365 single base substitution A G upstream_gene_variant LIRI-JP 1 179200984 179200984 single base substitution G A upstream_gene_variant LIRI-JP 1 179201900 179201900 single base substitution A G upstream_gene_variant LIRI-JP 1 179202696 179202696 single base substitution C T upstream_gene_variant LUSC-KR 1 179067325 179067325 single base substitution C G downstream_gene_variant LUSC-KR 1 179067678 179067678 single base substitution G T downstream_gene_variant LUSC-KR 1 179071790 179071790 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 179071790 179071790 single base substitution C G downstream_gene_variant LUSC-KR 1 179076821 179076821 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 179076821 179076821 single base substitution A G downstream_gene_variant LUSC-KR 1 179076823 179076823 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 179076823 179076823 single base substitution G C downstream_gene_variant LUSC-KR 1 179081193 179081193 single base substitution T G downstream_gene_variant LUSC-KR 1 179081193 179081193 single base substitution T G intron_variant LUSC-KR 1 179082514 179082514 single base substitution T G downstream_gene_variant LUSC-KR 1 179082514 179082514 single base substitution T G intron_variant LUSC-KR 1 179083360 179083360 single base substitution G A downstream_gene_variant LUSC-KR 1 179083360 179083360 single base substitution G A intron_variant LUSC-KR 1 179091360 179091360 single base substitution T C intron_variant LUSC-KR 1 179110119 179110119 single base substitution C T intron_variant LUSC-KR 1 179112394 179112394 single base substitution G A intron_variant LUSC-KR 1 179112394 179112394 single base substitution G A upstream_gene_variant LUSC-KR 1 179117333 179117333 single base substitution C A intron_variant LUSC-KR 1 179118809 179118809 single base substitution C A intron_variant LUSC-KR 1 179121342 179121342 single base substitution T C intron_variant LUSC-KR 1 179127166 179127166 single base substitution C G intron_variant LUSC-KR 1 179129964 179129964 single base substitution C G intron_variant LUSC-KR 1 179142073 179142073 single base substitution C G intron_variant LUSC-KR 1 179145000 179145000 single base substitution G T intron_variant LUSC-KR 1 179146911 179146911 single base substitution T C intron_variant LUSC-KR 1 179150288 179150288 single base substitution G A intron_variant LUSC-KR 1 179151105 179151105 single base substitution G T intron_variant LUSC-KR 1 179153697 179153697 single base substitution G A intron_variant LUSC-KR 1 179162769 179162769 single base substitution G A intron_variant LUSC-KR 1 179162822 179162822 single base substitution T A intron_variant LUSC-KR 1 179165896 179165896 single base substitution T A intron_variant LUSC-KR 1 179165910 179165910 single base substitution A C intron_variant LUSC-KR 1 179171129 179171129 single base substitution A G intron_variant LUSC-KR 1 179171599 179171599 single base substitution A T intron_variant LUSC-KR 1 179173147 179173147 single base substitution A G intron_variant LUSC-KR 1 179173286 179173286 single base substitution C A intron_variant LUSC-KR 1 179173714 179173714 single base substitution C G intron_variant LUSC-KR 1 179175631 179175631 single base substitution C A intron_variant LUSC-KR 1 179176518 179176518 single base substitution C A intron_variant LUSC-KR 1 179176519 179176519 single base substitution C T intron_variant LUSC-KR 1 179181769 179181769 single base substitution G T intron_variant LUSC-KR 1 179182200 179182200 single base substitution G A intron_variant LUSC-KR 1 179189845 179189845 single base substitution C G intron_variant LUSC-KR 1 179191236 179191236 single base substitution G A intron_variant LUSC-KR 1 179196693 179196693 single base substitution C T intron_variant LUSC-KR 1 179203441 179203441 single base substitution A G upstream_gene_variant LUSC-US 1 179077770 179077770 single base substitution C A downstream_gene_variant LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G739W 2215G>T LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G754W 2260G>T LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G760W 2278G>T LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G775W 2323G>T LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G842W 2524G>T LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G857W 2569G>T LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G863W 2587G>T LUSC-US 1 179077770 179077770 single base substitution C A missense_variant G878W 2632G>T LUSC-US 1 179078241 179078241 insertion of <=200bp - C downstream_gene_variant LUSC-US 1 179078241 179078241 insertion of <=200bp - C frameshift_variant S685R? LUSC-US 1 179078241 179078241 insertion of <=200bp - C frameshift_variant S700R? LUSC-US 1 179078241 179078241 insertion of <=200bp - C frameshift_variant S706R? LUSC-US 1 179078241 179078241 insertion of <=200bp - C frameshift_variant S721R? LUSC-US 1 179078241 179078241 insertion of <=200bp - C intron_variant LUSC-US 1 179078431 179078431 single base substitution C T downstream_gene_variant LUSC-US 1 179078431 179078431 single base substitution C T missense_variant M621I 1863G>A LUSC-US 1 179078431 179078431 single base substitution C T missense_variant M636I 1908G>A LUSC-US 1 179078431 179078431 single base substitution C T missense_variant M642I 1926G>A LUSC-US 1 179078431 179078431 single base substitution C T missense_variant M657I 1971G>A LUSC-US 1 179078459 179078459 single base substitution C A downstream_gene_variant LUSC-US 1 179078459 179078459 single base substitution C A missense_variant R612M 1835G>T LUSC-US 1 179078459 179078459 single base substitution C A missense_variant R627M 1880G>T LUSC-US 1 179078459 179078459 single base substitution C A missense_variant R633M 1898G>T LUSC-US 1 179078459 179078459 single base substitution C A missense_variant R648M 1943G>T LUSC-US 1 179084073 179084073 single base substitution C A downstream_gene_variant LUSC-US 1 179084073 179084073 single base substitution C A stop_gained G465* 1393G>T LUSC-US 1 179084073 179084073 single base substitution C A stop_gained G480* 1438G>T LUSC-US 1 179084073 179084073 single base substitution C A stop_gained G486* 1456G>T LUSC-US 1 179084073 179084073 single base substitution C A stop_gained G501* 1501G>T LUSC-US 1 179087825 179087825 single base substitution G A exon_variant LUSC-US 1 179087825 179087825 single base substitution G A stop_gained R338* 1012C>T LUSC-US 1 179087825 179087825 single base substitution G A stop_gained R353* 1057C>T LUSC-US 1 179087825 179087825 single base substitution G A stop_gained R359* 1075C>T LUSC-US 1 179087825 179087825 single base substitution G A stop_gained R374* 1120C>T LUSC-US 1 179090794 179090794 single base substitution T C exon_variant LUSC-US 1 179090794 179090794 single base substitution T C missense_variant Y263C 788A>G LUSC-US 1 179090794 179090794 single base substitution T C missense_variant Y278C 833A>G LUSC-US 1 179090794 179090794 single base substitution T C missense_variant Y284C 851A>G LUSC-US 1 179090794 179090794 single base substitution T C missense_variant Y299C 896A>G MALY-DE 1 179068434 179068434 single base substitution C A downstream_gene_variant MALY-DE 1 179090262 179090262 single base substitution T C intron_variant MALY-DE 1 179091392 179091392 single base substitution A G intron_variant MALY-DE 1 179097847 179097847 single base substitution T A downstream_gene_variant MALY-DE 1 179097847 179097847 single base substitution T A intron_variant MALY-DE 1 179110076 179110076 single base substitution A T intron_variant MALY-DE 1 179120732 179120732 single base substitution C T intron_variant MALY-DE 1 179123960 179123960 single base substitution T C intron_variant MALY-DE 1 179125236 179125236 single base substitution T C intron_variant MALY-DE 1 179135491 179135491 single base substitution A T intron_variant MALY-DE 1 179135552 179135552 single base substitution T C intron_variant MALY-DE 1 179137537 179137537 single base substitution A T intron_variant MALY-DE 1 179138928 179138928 single base substitution C T intron_variant MALY-DE 1 179139404 179139404 single base substitution C A intron_variant MALY-DE 1 179142491 179142491 single base substitution T G intron_variant MALY-DE 1 179143050 179143050 single base substitution A T intron_variant MALY-DE 1 179149273 179149273 single base substitution A G intron_variant MALY-DE 1 179157415 179157415 single base substitution G A intron_variant MALY-DE 1 179163929 179163929 single base substitution A G intron_variant MALY-DE 1 179166257 179166257 single base substitution A G intron_variant MALY-DE 1 179169400 179169400 single base substitution T G intron_variant MALY-DE 1 179175786 179175786 single base substitution T A intron_variant MALY-DE 1 179191951 179191951 single base substitution C A intron_variant MALY-DE 1 179197759 179197759 single base substitution C T intron_variant MELA-AU 1 179065061 179065061 single base substitution G A downstream_gene_variant MELA-AU 1 179065210 179065210 single base substitution G A downstream_gene_variant MELA-AU 1 179065420 179065420 single base substitution G A downstream_gene_variant MELA-AU 1 179067262 179067262 single base substitution G A downstream_gene_variant MELA-AU 1 179068176 179068176 single base substitution G A downstream_gene_variant MELA-AU 1 179068629 179068629 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179068629 179068629 single base substitution G A downstream_gene_variant MELA-AU 1 179069553 179069553 single base substitution A T 3_prime_UTR_variant MELA-AU 1 179069553 179069553 single base substitution A T downstream_gene_variant MELA-AU 1 179069826 179069826 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179069826 179069826 single base substitution G A downstream_gene_variant MELA-AU 1 179070174 179070174 single base substitution C T 3_prime_UTR_variant MELA-AU 1 179070174 179070174 single base substitution C T downstream_gene_variant MELA-AU 1 179070197 179070197 single base substitution A G 3_prime_UTR_variant MELA-AU 1 179070197 179070197 single base substitution A G downstream_gene_variant MELA-AU 1 179070808 179070808 single base substitution A T 3_prime_UTR_variant MELA-AU 1 179070808 179070808 single base substitution A T downstream_gene_variant MELA-AU 1 179071281 179071281 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179071281 179071281 single base substitution G A downstream_gene_variant MELA-AU 1 179071488 179071488 single base substitution C T 3_prime_UTR_variant MELA-AU 1 179071488 179071488 single base substitution C T downstream_gene_variant MELA-AU 1 179072717 179072717 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179072717 179072717 single base substitution G A downstream_gene_variant MELA-AU 1 179073157 179073157 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179073157 179073157 single base substitution G A downstream_gene_variant MELA-AU 1 179073750 179073750 single base substitution A G 3_prime_UTR_variant MELA-AU 1 179073750 179073750 single base substitution A G downstream_gene_variant MELA-AU 1 179074067 179074067 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179074067 179074067 single base substitution G A downstream_gene_variant MELA-AU 1 179074282 179074282 single base substitution C T 3_prime_UTR_variant MELA-AU 1 179074282 179074282 single base substitution C T downstream_gene_variant MELA-AU 1 179074417 179074417 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179074417 179074417 single base substitution G A downstream_gene_variant MELA-AU 1 179074428 179074428 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179074428 179074428 single base substitution G A downstream_gene_variant MELA-AU 1 179075074 179075074 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179075074 179075074 single base substitution G A downstream_gene_variant MELA-AU 1 179075569 179075569 single base substitution T A 3_prime_UTR_variant MELA-AU 1 179075569 179075569 single base substitution T A downstream_gene_variant MELA-AU 1 179075753 179075753 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179075753 179075753 single base substitution G A downstream_gene_variant MELA-AU 1 179075757 179075757 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179075757 179075757 single base substitution G A downstream_gene_variant MELA-AU 1 179076019 179076019 single base substitution G A 3_prime_UTR_variant MELA-AU 1 179076019 179076019 single base substitution G A downstream_gene_variant MELA-AU 1 179076252 179076252 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU 1 179076252 179076252 deletion of <=200bp A - downstream_gene_variant MELA-AU 1 179077020 179077020 single base substitution G A downstream_gene_variant MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P1004S 3010C>T MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P1010S 3028C>T MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P1025S 3073C>T MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P1092S 3274C>T MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P1107S 3319C>T MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P1113S 3337C>T MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P1128S 3382C>T MELA-AU 1 179077020 179077020 single base substitution G A missense_variant P989S 2965C>T MELA-AU 1 179077021 179077021 single base substitution G A downstream_gene_variant MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I1003I 3009C>T MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I1009I 3027C>T MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I1024I 3072C>T MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I1091I 3273C>T MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I1106I 3318C>T MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I1112I 3336C>T MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I1127I 3381C>T MELA-AU 1 179077021 179077021 single base substitution G A synonymous_variant I988I 2964C>T MELA-AU 1 179077360 179077360 single base substitution G A downstream_gene_variant MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S1014S 3042C>T MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S875S 2625C>T MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S890S 2670C>T MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S896S 2688C>T MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S911S 2733C>T MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S978S 2934C>T MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S993S 2979C>T MELA-AU 1 179077360 179077360 single base substitution G A synonymous_variant S999S 2997C>T MELA-AU 1 179077411 179077411 single base substitution G A downstream_gene_variant MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S858S 2574C>T MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S873S 2619C>T MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S879S 2637C>T MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S894S 2682C>T MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S961S 2883C>T MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S976S 2928C>T MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S982S 2946C>T MELA-AU 1 179077411 179077411 single base substitution G A synonymous_variant S997S 2991C>T MELA-AU 1 179077483 179077483 single base substitution G A downstream_gene_variant MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D834D 2502C>T MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D849D 2547C>T MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D855D 2565C>T MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D870D 2610C>T MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D937D 2811C>T MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D952D 2856C>T MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D958D 2874C>T MELA-AU 1 179077483 179077483 single base substitution G A synonymous_variant D973D 2919C>T MELA-AU 1 179077671 179077671 single base substitution G A downstream_gene_variant MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P772S 2314C>T MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P787S 2359C>T MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P793S 2377C>T MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P808S 2422C>T MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P875S 2623C>T MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P890S 2668C>T MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P896S 2686C>T MELA-AU 1 179077671 179077671 single base substitution G A missense_variant P911S 2731C>T MELA-AU 1 179077773 179077773 single base substitution G A downstream_gene_variant MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P738S 2212C>T MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P753S 2257C>T MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P759S 2275C>T MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P774S 2320C>T MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P841S 2521C>T MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P856S 2566C>T MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P862S 2584C>T MELA-AU 1 179077773 179077773 single base substitution G A missense_variant P877S 2629C>T MELA-AU 1 179078415 179078415 single base substitution G A downstream_gene_variant MELA-AU 1 179078415 179078415 single base substitution G A missense_variant P627S 1879C>T MELA-AU 1 179078415 179078415 single base substitution G A missense_variant P642S 1924C>T MELA-AU 1 179078415 179078415 single base substitution G A missense_variant P648S 1942C>T MELA-AU 1 179078415 179078415 single base substitution G A missense_variant P663S 1987C>T MELA-AU 1 179078481 179078481 single base substitution C T downstream_gene_variant MELA-AU 1 179078481 179078481 single base substitution C T missense_variant E605K 1813G>A MELA-AU 1 179078481 179078481 single base substitution C T missense_variant E620K 1858G>A MELA-AU 1 179078481 179078481 single base substitution C T missense_variant E626K 1876G>A MELA-AU 1 179078481 179078481 single base substitution C T missense_variant E641K 1921G>A MELA-AU 1 179078771 179078771 single base substitution G A downstream_gene_variant MELA-AU 1 179078771 179078771 single base substitution G A intron_variant MELA-AU 1 179078825 179078825 single base substitution G A downstream_gene_variant MELA-AU 1 179078825 179078825 single base substitution G A intron_variant MELA-AU 1 179078995 179078995 single base substitution G A downstream_gene_variant MELA-AU 1 179078995 179078995 single base substitution G A intron_variant MELA-AU 1 179079192 179079192 single base substitution G A downstream_gene_variant MELA-AU 1 179079192 179079192 single base substitution G A intron_variant MELA-AU 1 179079267 179079267 single base substitution G A downstream_gene_variant MELA-AU 1 179079267 179079267 single base substitution G A intron_variant MELA-AU 1 179080610 179080610 single base substitution G A intron_variant MELA-AU 1 179080798 179080798 single base substitution G A intron_variant MELA-AU 1 179080866 179080866 single base substitution T C intron_variant MELA-AU 1 179081953 179081953 single base substitution G A downstream_gene_variant MELA-AU 1 179081953 179081953 single base substitution G A intron_variant MELA-AU 1 179082331 179082331 single base substitution G A downstream_gene_variant MELA-AU 1 179082331 179082331 single base substitution G A intron_variant MELA-AU 1 179082733 179082733 single base substitution G A downstream_gene_variant MELA-AU 1 179082733 179082733 single base substitution G A intron_variant MELA-AU 1 179083024 179083024 single base substitution G A downstream_gene_variant MELA-AU 1 179083024 179083024 single base substitution G A intron_variant MELA-AU 1 179083027 179083027 single base substitution C T downstream_gene_variant MELA-AU 1 179083027 179083027 single base substitution C T intron_variant MELA-AU 1 179083056 179083056 single base substitution G A downstream_gene_variant MELA-AU 1 179083056 179083056 single base substitution G A intron_variant MELA-AU 1 179083709 179083709 single base substitution A C downstream_gene_variant MELA-AU 1 179083709 179083709 single base substitution A C intron_variant MELA-AU 1 179084114 179084114 single base substitution G A downstream_gene_variant MELA-AU 1 179084114 179084114 single base substitution G A missense_variant P451L 1352C>T MELA-AU 1 179084114 179084114 single base substitution G A missense_variant P466L 1397C>T MELA-AU 1 179084114 179084114 single base substitution G A missense_variant P472L 1415C>T MELA-AU 1 179084114 179084114 single base substitution G A missense_variant P487L 1460C>T MELA-AU 1 179084119 179084119 single base substitution T C downstream_gene_variant MELA-AU 1 179084119 179084119 single base substitution T C synonymous_variant P449P 1347A>G MELA-AU 1 179084119 179084119 single base substitution T C synonymous_variant P464P 1392A>G MELA-AU 1 179084119 179084119 single base substitution T C synonymous_variant P470P 1410A>G MELA-AU 1 179084119 179084119 single base substitution T C synonymous_variant P485P 1455A>G MELA-AU 1 179085617 179085617 single base substitution G A downstream_gene_variant MELA-AU 1 179085617 179085617 single base substitution G A intron_variant MELA-AU 1 179085960 179085960 single base substitution T C downstream_gene_variant MELA-AU 1 179085960 179085960 single base substitution T C exon_variant MELA-AU 1 179085960 179085960 single base substitution T C intron_variant MELA-AU 1 179086533 179086533 single base substitution G A exon_variant MELA-AU 1 179086533 179086533 single base substitution G A missense_variant P412S 1234C>T MELA-AU 1 179086533 179086533 single base substitution G A missense_variant P427S 1279C>T MELA-AU 1 179086533 179086533 single base substitution G A missense_variant P433S 1297C>T MELA-AU 1 179086533 179086533 single base substitution G A missense_variant P448S 1342C>T MELA-AU 1 179086766 179086766 single base substitution G A intron_variant MELA-AU 1 179087014 179087014 single base substitution G A intron_variant MELA-AU 1 179087148 179087148 single base substitution C A intron_variant MELA-AU 1 179087989 179087989 single base substitution G T intron_variant MELA-AU 1 179088334 179088334 single base substitution C T intron_variant MELA-AU 1 179088629 179088629 single base substitution G A intron_variant MELA-AU 1 179088666 179088666 single base substitution A C intron_variant MELA-AU 1 179088835 179088835 single base substitution G A intron_variant MELA-AU 1 179090196 179090196 single base substitution G A intron_variant MELA-AU 1 179090238 179090238 single base substitution C T intron_variant MELA-AU 1 179090409 179090409 single base substitution C T intron_variant MELA-AU 1 179090511 179090511 single base substitution G A intron_variant MELA-AU 1 179090581 179090581 single base substitution G A intron_variant MELA-AU 1 179090837 179090837 single base substitution G A exon_variant MELA-AU 1 179090837 179090837 single base substitution G A stop_gained R249* 745C>T MELA-AU 1 179090837 179090837 single base substitution G A stop_gained R264* 790C>T MELA-AU 1 179090837 179090837 single base substitution G A stop_gained R270* 808C>T MELA-AU 1 179090837 179090837 single base substitution G A stop_gained R285* 853C>T MELA-AU 1 179091131 179091131 single base substitution G A intron_variant MELA-AU 1 179091693 179091693 single base substitution C T intron_variant MELA-AU 1 179092760 179092760 single base substitution C T intron_variant MELA-AU 1 179092789 179092789 single base substitution G A intron_variant MELA-AU 1 179093632 179093632 single base substitution C T intron_variant MELA-AU 1 179093962 179093962 single base substitution C T intron_variant MELA-AU 1 179094918 179094918 single base substitution A G intron_variant MELA-AU 1 179094965 179094965 single base substitution G A intron_variant MELA-AU 1 179095001 179095001 single base substitution A G intron_variant MELA-AU 1 179095818 179095818 single base substitution G A downstream_gene_variant MELA-AU 1 179095818 179095818 single base substitution G A intron_variant MELA-AU 1 179096696 179096696 single base substitution G A downstream_gene_variant MELA-AU 1 179096696 179096696 single base substitution G A intron_variant MELA-AU 1 179096709 179096709 single base substitution A G downstream_gene_variant MELA-AU 1 179096709 179096709 single base substitution A G intron_variant MELA-AU 1 179097052 179097052 single base substitution C T downstream_gene_variant MELA-AU 1 179097052 179097052 single base substitution C T intron_variant MELA-AU 1 179097091 179097091 single base substitution A G downstream_gene_variant MELA-AU 1 179097091 179097091 single base substitution A G intron_variant MELA-AU 1 179097157 179097157 single base substitution G A downstream_gene_variant MELA-AU 1 179097157 179097157 single base substitution G A intron_variant MELA-AU 1 179097474 179097474 single base substitution G A downstream_gene_variant MELA-AU 1 179097474 179097474 single base substitution G A intron_variant MELA-AU 1 179097679 179097679 single base substitution G A downstream_gene_variant MELA-AU 1 179097679 179097679 single base substitution G A intron_variant MELA-AU 1 179098277 179098277 single base substitution T G downstream_gene_variant MELA-AU 1 179098277 179098277 single base substitution T G intron_variant MELA-AU 1 179099603 179099603 single base substitution G A downstream_gene_variant MELA-AU 1 179099603 179099603 single base substitution G A intron_variant MELA-AU 1 179099818 179099818 single base substitution G A downstream_gene_variant MELA-AU 1 179099818 179099818 single base substitution G A intron_variant MELA-AU 1 179100501 179100501 single base substitution G A exon_variant MELA-AU 1 179100501 179100501 single base substitution G A synonymous_variant F112F 336C>T MELA-AU 1 179100501 179100501 single base substitution G A synonymous_variant F76F 228C>T MELA-AU 1 179100501 179100501 single base substitution G A synonymous_variant F91F 273C>T MELA-AU 1 179100501 179100501 single base substitution G A synonymous_variant F97F 291C>T MELA-AU 1 179101267 179101267 single base substitution G A intron_variant MELA-AU 1 179102261 179102261 single base substitution G A intron_variant MELA-AU 1 179104726 179104726 single base substitution G A intron_variant MELA-AU 1 179104730 179104730 single base substitution G A intron_variant MELA-AU 1 179104777 179104777 single base substitution G A intron_variant MELA-AU 1 179104860 179104860 single base substitution G A intron_variant MELA-AU 1 179104954 179104954 single base substitution G A intron_variant MELA-AU 1 179106006 179106006 single base substitution G C intron_variant MELA-AU 1 179107279 179107279 single base substitution G A intron_variant MELA-AU 1 179107339 179107339 single base substitution G A intron_variant MELA-AU 1 179107938 179107938 single base substitution G A intron_variant MELA-AU 1 179108039 179108039 single base substitution G A intron_variant MELA-AU 1 179108705 179108706 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 179108873 179108873 single base substitution G A intron_variant MELA-AU 1 179109146 179109146 single base substitution C T intron_variant MELA-AU 1 179109541 179109541 single base substitution C T intron_variant MELA-AU 1 179110644 179110644 single base substitution G A intron_variant MELA-AU 1 179111525 179111525 single base substitution T A intron_variant MELA-AU 1 179113250 179113250 single base substitution C T intron_variant MELA-AU 1 179113250 179113250 single base substitution C T upstream_gene_variant MELA-AU 1 179113972 179113972 single base substitution C T intron_variant MELA-AU 1 179113972 179113972 single base substitution C T upstream_gene_variant MELA-AU 1 179114792 179114792 single base substitution T A intron_variant MELA-AU 1 179114792 179114792 single base substitution T A upstream_gene_variant MELA-AU 1 179115312 179115312 single base substitution G C intron_variant MELA-AU 1 179115312 179115312 single base substitution G C upstream_gene_variant MELA-AU 1 179115912 179115912 single base substitution C T intron_variant MELA-AU 1 179115912 179115912 single base substitution C T upstream_gene_variant MELA-AU 1 179117542 179117542 single base substitution T C intron_variant MELA-AU 1 179118048 179118048 single base substitution A G intron_variant MELA-AU 1 179118050 179118050 single base substitution G A intron_variant MELA-AU 1 179118458 179118458 single base substitution G A intron_variant MELA-AU 1 179119072 179119072 single base substitution G A intron_variant MELA-AU 1 179119110 179119110 single base substitution C A intron_variant MELA-AU 1 179119616 179119616 single base substitution G A intron_variant MELA-AU 1 179120256 179120256 single base substitution C T intron_variant MELA-AU 1 179120508 179120508 single base substitution G A intron_variant MELA-AU 1 179120787 179120787 single base substitution C T intron_variant MELA-AU 1 179122017 179122017 single base substitution G A intron_variant MELA-AU 1 179122658 179122658 single base substitution G A intron_variant MELA-AU 1 179124352 179124352 single base substitution C T intron_variant MELA-AU 1 179124400 179124400 single base substitution G A intron_variant MELA-AU 1 179124437 179124437 single base substitution G A intron_variant MELA-AU 1 179124784 179124784 single base substitution T G intron_variant MELA-AU 1 179125131 179125131 single base substitution G A intron_variant MELA-AU 1 179126018 179126021 deletion of <=200bp AAAT - intron_variant MELA-AU 1 179127334 179127334 single base substitution G A intron_variant MELA-AU 1 179127598 179127598 single base substitution C T intron_variant MELA-AU 1 179127932 179127932 single base substitution G A intron_variant MELA-AU 1 179128510 179128510 single base substitution G A intron_variant MELA-AU 1 179129674 179129674 single base substitution C T intron_variant MELA-AU 1 179130097 179130097 single base substitution G A intron_variant MELA-AU 1 179130146 179130146 single base substitution G A intron_variant MELA-AU 1 179130852 179130852 single base substitution G A intron_variant MELA-AU 1 179131707 179131707 single base substitution G A intron_variant MELA-AU 1 179132047 179132047 single base substitution A G intron_variant MELA-AU 1 179133172 179133172 single base substitution G A intron_variant MELA-AU 1 179133698 179133698 single base substitution C T intron_variant MELA-AU 1 179135686 179135686 single base substitution G A intron_variant MELA-AU 1 179135838 179135838 single base substitution G A intron_variant MELA-AU 1 179136089 179136089 single base substitution G A intron_variant MELA-AU 1 179136274 179136274 single base substitution G A intron_variant MELA-AU 1 179136491 179136491 single base substitution C T intron_variant MELA-AU 1 179137976 179137976 single base substitution C T intron_variant MELA-AU 1 179138222 179138222 single base substitution T A intron_variant MELA-AU 1 179138243 179138243 single base substitution G A intron_variant MELA-AU 1 179138272 179138272 single base substitution A G intron_variant MELA-AU 1 179139088 179139088 single base substitution G A intron_variant MELA-AU 1 179139343 179139343 single base substitution A C intron_variant MELA-AU 1 179139793 179139793 single base substitution G A intron_variant MELA-AU 1 179140630 179140630 single base substitution C T intron_variant MELA-AU 1 179141370 179141370 single base substitution G A intron_variant MELA-AU 1 179142100 179142100 single base substitution G A intron_variant MELA-AU 1 179142740 179142740 single base substitution C T intron_variant MELA-AU 1 179143160 179143160 single base substitution C A intron_variant MELA-AU 1 179143260 179143260 single base substitution T G intron_variant MELA-AU 1 179144581 179144581 single base substitution G A intron_variant MELA-AU 1 179146128 179146128 single base substitution G A intron_variant MELA-AU 1 179146918 179146918 single base substitution G A intron_variant MELA-AU 1 179146959 179146959 single base substitution G A intron_variant MELA-AU 1 179146960 179146960 single base substitution G A intron_variant MELA-AU 1 179147047 179147048 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 1 179147634 179147634 single base substitution C T intron_variant MELA-AU 1 179147702 179147702 single base substitution G A intron_variant MELA-AU 1 179147779 179147779 single base substitution C T intron_variant MELA-AU 1 179147784 179147784 single base substitution G A intron_variant MELA-AU 1 179147891 179147891 single base substitution G A intron_variant MELA-AU 1 179149057 179149057 single base substitution G A intron_variant MELA-AU 1 179149273 179149273 single base substitution A G intron_variant MELA-AU 1 179149274 179149274 deletion of <=200bp G - intron_variant MELA-AU 1 179149279 179149279 single base substitution G A intron_variant MELA-AU 1 179149549 179149549 single base substitution G A intron_variant MELA-AU 1 179150096 179150096 single base substitution G A intron_variant MELA-AU 1 179150220 179150220 single base substitution A C intron_variant MELA-AU 1 179150928 179150928 single base substitution A T intron_variant MELA-AU 1 179150964 179150964 single base substitution G A intron_variant MELA-AU 1 179151214 179151214 single base substitution G A intron_variant MELA-AU 1 179151265 179151265 single base substitution C T intron_variant MELA-AU 1 179151930 179151930 single base substitution T C intron_variant MELA-AU 1 179152375 179152375 single base substitution G A intron_variant MELA-AU 1 179152833 179152833 single base substitution G A intron_variant MELA-AU 1 179152887 179152887 single base substitution G A intron_variant MELA-AU 1 179153729 179153729 single base substitution G A intron_variant MELA-AU 1 179154217 179154217 single base substitution C T intron_variant MELA-AU 1 179154495 179154495 single base substitution C T intron_variant MELA-AU 1 179155201 179155201 single base substitution G A intron_variant MELA-AU 1 179155272 179155272 single base substitution C T intron_variant MELA-AU 1 179155504 179155504 single base substitution C A intron_variant MELA-AU 1 179155577 179155577 single base substitution G A intron_variant MELA-AU 1 179156704 179156704 single base substitution G A intron_variant MELA-AU 1 179156868 179156868 single base substitution G A intron_variant MELA-AU 1 179157321 179157321 single base substitution C T intron_variant MELA-AU 1 179157482 179157482 single base substitution G A intron_variant MELA-AU 1 179157697 179157697 single base substitution A T intron_variant MELA-AU 1 179158296 179158296 single base substitution G A intron_variant MELA-AU 1 179158758 179158758 single base substitution G A intron_variant MELA-AU 1 179159025 179159025 single base substitution G A intron_variant MELA-AU 1 179159153 179159154 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 179159484 179159484 single base substitution G A intron_variant MELA-AU 1 179159798 179159798 single base substitution C T intron_variant MELA-AU 1 179160636 179160636 single base substitution A G intron_variant MELA-AU 1 179160811 179160812 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 179160828 179160828 single base substitution G A intron_variant MELA-AU 1 179161301 179161301 single base substitution G A intron_variant MELA-AU 1 179161767 179161767 single base substitution G A intron_variant MELA-AU 1 179161828 179161828 single base substitution A T intron_variant MELA-AU 1 179163135 179163135 single base substitution C T intron_variant MELA-AU 1 179163322 179163322 deletion of <=200bp A - intron_variant MELA-AU 1 179163747 179163747 single base substitution G T intron_variant MELA-AU 1 179163764 179163764 single base substitution C T intron_variant MELA-AU 1 179163782 179163782 single base substitution G A intron_variant MELA-AU 1 179163797 179163798 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 179164410 179164411 deletion of <=200bp AA - intron_variant MELA-AU 1 179164565 179164565 single base substitution G A intron_variant MELA-AU 1 179165196 179165197 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 179166216 179166234 deletion of <=200bp TAAATACCATTCAAGAGGG - intron_variant MELA-AU 1 179166391 179166391 single base substitution G A intron_variant MELA-AU 1 179166490 179166490 single base substitution G A intron_variant MELA-AU 1 179166820 179166820 single base substitution A G intron_variant MELA-AU 1 179167116 179167116 single base substitution C T intron_variant MELA-AU 1 179167604 179167604 single base substitution G A intron_variant MELA-AU 1 179167873 179167873 single base substitution C A intron_variant MELA-AU 1 179168006 179168006 single base substitution T G intron_variant MELA-AU 1 179168047 179168047 single base substitution G A intron_variant MELA-AU 1 179168111 179168111 single base substitution G A intron_variant MELA-AU 1 179168119 179168119 single base substitution G A intron_variant MELA-AU 1 179168216 179168216 single base substitution G A intron_variant MELA-AU 1 179168405 179168405 single base substitution G A intron_variant MELA-AU 1 179168959 179168959 single base substitution C T intron_variant MELA-AU 1 179169766 179169766 single base substitution T A intron_variant MELA-AU 1 179169945 179169945 single base substitution G A intron_variant MELA-AU 1 179170607 179170607 single base substitution G A intron_variant MELA-AU 1 179170716 179170716 single base substitution G A intron_variant MELA-AU 1 179170900 179170900 single base substitution G A intron_variant MELA-AU 1 179171114 179171114 single base substitution G A intron_variant MELA-AU 1 179171222 179171222 single base substitution G A intron_variant MELA-AU 1 179171658 179171658 single base substitution G A intron_variant MELA-AU 1 179172009 179172009 single base substitution A G intron_variant MELA-AU 1 179172257 179172257 single base substitution C A intron_variant MELA-AU 1 179173495 179173495 single base substitution C A intron_variant MELA-AU 1 179173642 179173642 single base substitution A T intron_variant MELA-AU 1 179174564 179174564 single base substitution T C intron_variant MELA-AU 1 179174796 179174796 single base substitution G A intron_variant MELA-AU 1 179175804 179175804 single base substitution G A intron_variant MELA-AU 1 179176723 179176723 single base substitution G C intron_variant MELA-AU 1 179177024 179177024 single base substitution G A intron_variant MELA-AU 1 179177362 179177362 single base substitution G A intron_variant MELA-AU 1 179178664 179178664 single base substitution G A intron_variant MELA-AU 1 179179196 179179196 single base substitution T C intron_variant MELA-AU 1 179179399 179179399 single base substitution G A intron_variant MELA-AU 1 179179433 179179433 single base substitution G A intron_variant MELA-AU 1 179179534 179179534 single base substitution G A intron_variant MELA-AU 1 179180281 179180281 single base substitution G A intron_variant MELA-AU 1 179180940 179180941 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 1 179181269 179181269 single base substitution T C intron_variant MELA-AU 1 179181395 179181395 single base substitution G A intron_variant MELA-AU 1 179181731 179181731 single base substitution G A intron_variant MELA-AU 1 179182118 179182118 single base substitution T C intron_variant MELA-AU 1 179182638 179182638 single base substitution A G intron_variant MELA-AU 1 179182694 179182694 single base substitution C T intron_variant MELA-AU 1 179183315 179183315 single base substitution G A intron_variant MELA-AU 1 179184423 179184423 single base substitution G A intron_variant MELA-AU 1 179184876 179184876 single base substitution G C intron_variant MELA-AU 1 179186280 179186280 single base substitution T C intron_variant MELA-AU 1 179186359 179186359 single base substitution G A intron_variant MELA-AU 1 179186744 179186744 single base substitution G A intron_variant MELA-AU 1 179186937 179186937 single base substitution G A intron_variant MELA-AU 1 179187129 179187129 single base substitution T A intron_variant MELA-AU 1 179187369 179187369 single base substitution G A intron_variant MELA-AU 1 179187595 179187595 single base substitution G A intron_variant MELA-AU 1 179187602 179187602 single base substitution G A intron_variant MELA-AU 1 179187888 179187888 single base substitution C T intron_variant MELA-AU 1 179188431 179188431 single base substitution G A intron_variant MELA-AU 1 179188616 179188616 single base substitution G A intron_variant MELA-AU 1 179189646 179189646 single base substitution G A intron_variant MELA-AU 1 179189739 179189739 single base substitution G A intron_variant MELA-AU 1 179189927 179189927 single base substitution G A intron_variant MELA-AU 1 179190369 179190369 single base substitution G A intron_variant MELA-AU 1 179190620 179190620 single base substitution G A intron_variant MELA-AU 1 179191049 179191049 single base substitution G A intron_variant MELA-AU 1 179191241 179191241 single base substitution G A intron_variant MELA-AU 1 179191661 179191661 single base substitution G A intron_variant MELA-AU 1 179191836 179191836 single base substitution G A intron_variant MELA-AU 1 179192787 179192787 single base substitution A T intron_variant MELA-AU 1 179192902 179192902 single base substitution T G intron_variant MELA-AU 1 179193319 179193319 single base substitution T C intron_variant MELA-AU 1 179193361 179193361 single base substitution A T intron_variant MELA-AU 1 179193624 179193624 single base substitution G A intron_variant MELA-AU 1 179193626 179193626 single base substitution A G intron_variant MELA-AU 1 179193681 179193681 single base substitution G A intron_variant MELA-AU 1 179194256 179194256 single base substitution T G intron_variant MELA-AU 1 179194379 179194379 single base substitution C T intron_variant MELA-AU 1 179194680 179194681 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 179195040 179195040 single base substitution G C intron_variant MELA-AU 1 179195087 179195087 single base substitution G A intron_variant MELA-AU 1 179195979 179195979 single base substitution C T intron_variant MELA-AU 1 179196705 179196705 single base substitution C G intron_variant MELA-AU 1 179196814 179196814 single base substitution G A intron_variant MELA-AU 1 179197934 179197934 single base substitution C T intron_variant MELA-AU 1 179200193 179200193 single base substitution G A upstream_gene_variant MELA-AU 1 179200263 179200263 single base substitution G A upstream_gene_variant MELA-AU 1 179200282 179200282 single base substitution C T upstream_gene_variant MELA-AU 1 179200469 179200469 single base substitution G A upstream_gene_variant MELA-AU 1 179201408 179201408 single base substitution C T upstream_gene_variant MELA-AU 1 179201516 179201516 single base substitution C T upstream_gene_variant MELA-AU 1 179201836 179201836 single base substitution C T upstream_gene_variant MELA-AU 1 179201891 179201891 single base substitution T A upstream_gene_variant MELA-AU 1 179201921 179201921 single base substitution C T upstream_gene_variant MELA-AU 1 179201964 179201964 single base substitution C T upstream_gene_variant MELA-AU 1 179202151 179202151 single base substitution G A upstream_gene_variant MELA-AU 1 179202468 179202468 single base substitution C T upstream_gene_variant MELA-AU 1 179202723 179202723 single base substitution C T upstream_gene_variant MELA-AU 1 179203132 179203132 single base substitution C T upstream_gene_variant MELA-AU 1 179203541 179203541 single base substitution C T upstream_gene_variant MELA-AU 1 179203722 179203722 single base substitution G A upstream_gene_variant NBL-US 1 179077416 179077416 single base substitution G C downstream_gene_variant NBL-US 1 179077416 179077416 single base substitution G C missense_variant P857A 2569C>G NBL-US 1 179077416 179077416 single base substitution G C missense_variant P872A 2614C>G NBL-US 1 179077416 179077416 single base substitution G C missense_variant P878A 2632C>G NBL-US 1 179077416 179077416 single base substitution G C missense_variant P893A 2677C>G NBL-US 1 179077416 179077416 single base substitution G C missense_variant P960A 2878C>G NBL-US 1 179077416 179077416 single base substitution G C missense_variant P975A 2923C>G NBL-US 1 179077416 179077416 single base substitution G C missense_variant P981A 2941C>G NBL-US 1 179077416 179077416 single base substitution G C missense_variant P996A 2986C>G ORCA-IN 1 179083285 179083285 single base substitution G A downstream_gene_variant ORCA-IN 1 179083285 179083285 single base substitution G A intron_variant ORCA-IN 1 179083504 179083504 single base substitution C G downstream_gene_variant ORCA-IN 1 179083504 179083504 single base substitution C G intron_variant ORCA-IN 1 179084067 179084067 single base substitution G A downstream_gene_variant ORCA-IN 1 179084067 179084067 single base substitution G A stop_gained R467* 1399C>T ORCA-IN 1 179084067 179084067 single base substitution G A stop_gained R482* 1444C>T ORCA-IN 1 179084067 179084067 single base substitution G A stop_gained R488* 1462C>T ORCA-IN 1 179084067 179084067 single base substitution G A stop_gained R503* 1507C>T ORCA-IN 1 179090774 179090774 single base substitution C A exon_variant ORCA-IN 1 179090774 179090774 single base substitution C A missense_variant V270F 808G>T ORCA-IN 1 179090774 179090774 single base substitution C A missense_variant V285F 853G>T ORCA-IN 1 179090774 179090774 single base substitution C A missense_variant V291F 871G>T ORCA-IN 1 179090774 179090774 single base substitution C A missense_variant V306F 916G>T ORCA-IN 1 179138400 179138400 single base substitution C A intron_variant ORCA-IN 1 179157151 179157151 single base substitution C A intron_variant ORCA-IN 1 179163893 179163893 single base substitution T C intron_variant ORCA-IN 1 179167884 179167884 single base substitution C G intron_variant ORCA-IN 1 179186191 179186191 single base substitution G C intron_variant ORCA-IN 1 179186498 179186498 single base substitution C G intron_variant ORCA-IN 1 179200606 179200606 single base substitution G A upstream_gene_variant ORCA-IN 1 179201836 179201836 single base substitution C T upstream_gene_variant OV-AU 1 179065673 179065673 single base substitution G C downstream_gene_variant OV-AU 1 179066102 179066102 single base substitution G C downstream_gene_variant OV-AU 1 179069422 179069422 single base substitution C T 3_prime_UTR_variant OV-AU 1 179069422 179069422 single base substitution C T downstream_gene_variant OV-AU 1 179071210 179071210 single base substitution G T 3_prime_UTR_variant OV-AU 1 179071210 179071210 single base substitution G T downstream_gene_variant OV-AU 1 179072893 179072893 single base substitution T G 3_prime_UTR_variant OV-AU 1 179072893 179072893 single base substitution T G downstream_gene_variant OV-AU 1 179086396 179086396 single base substitution G C exon_variant OV-AU 1 179086396 179086396 single base substitution G C intron_variant OV-AU 1 179093850 179093850 single base substitution C G intron_variant OV-AU 1 179094351 179094351 single base substitution C T intron_variant OV-AU 1 179094389 179094389 single base substitution G T intron_variant OV-AU 1 179100101 179100101 single base substitution A T downstream_gene_variant OV-AU 1 179100101 179100101 single base substitution A T intron_variant OV-AU 1 179104504 179104504 single base substitution A C intron_variant OV-AU 1 179109067 179109067 single base substitution T C intron_variant OV-AU 1 179110052 179110052 single base substitution A C intron_variant OV-AU 1 179116108 179116108 single base substitution G A intron_variant OV-AU 1 179116108 179116108 single base substitution G A upstream_gene_variant OV-AU 1 179117700 179117700 single base substitution A C intron_variant OV-AU 1 179123036 179123036 single base substitution C T intron_variant OV-AU 1 179123467 179123467 single base substitution C G intron_variant OV-AU 1 179126096 179126096 single base substitution G T intron_variant OV-AU 1 179128849 179128849 single base substitution G T intron_variant OV-AU 1 179136127 179136127 single base substitution G T intron_variant OV-AU 1 179138688 179138688 single base substitution A T intron_variant OV-AU 1 179143705 179143705 single base substitution G C intron_variant OV-AU 1 179149240 179149240 single base substitution G C intron_variant OV-AU 1 179164780 179164780 single base substitution G C intron_variant OV-AU 1 179171927 179171927 single base substitution T C intron_variant OV-AU 1 179181974 179181974 single base substitution G C intron_variant OV-AU 1 179182296 179182296 single base substitution T A intron_variant OV-AU 1 179191983 179191983 single base substitution C T intron_variant OV-AU 1 179196834 179196834 single base substitution C T intron_variant OV-AU 1 179200703 179200703 single base substitution C T upstream_gene_variant PACA-AU 1 179073278 179073278 single base substitution T A 3_prime_UTR_variant PACA-AU 1 179073278 179073278 single base substitution T A downstream_gene_variant PACA-AU 1 179075728 179075728 single base substitution C T 3_prime_UTR_variant PACA-AU 1 179075728 179075728 single base substitution C T downstream_gene_variant PACA-AU 1 179077978 179077978 single base substitution G A downstream_gene_variant PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S669S 2007C>T PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S684S 2052C>T PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S690S 2070C>T PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S705S 2115C>T PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S772S 2316C>T PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S787S 2361C>T PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S793S 2379C>T PACA-AU 1 179077978 179077978 single base substitution G A synonymous_variant S808S 2424C>T PACA-AU 1 179079826 179079826 single base substitution C T 3_prime_UTR_variant PACA-AU 1 179079826 179079826 single base substitution C T intron_variant PACA-AU 1 179080632 179080632 single base substitution G A intron_variant PACA-AU 1 179084049 179084049 single base substitution C G downstream_gene_variant PACA-AU 1 179084049 179084049 single base substitution C G missense_variant G473R 1417G>C PACA-AU 1 179084049 179084049 single base substitution C G missense_variant G488R 1462G>C PACA-AU 1 179084049 179084049 single base substitution C G missense_variant G494R 1480G>C PACA-AU 1 179084049 179084049 single base substitution C G missense_variant G509R 1525G>C PACA-AU 1 179085243 179085243 single base substitution T A downstream_gene_variant PACA-AU 1 179085243 179085243 single base substitution T A intron_variant PACA-AU 1 179089445 179089445 single base substitution G A intron_variant PACA-AU 1 179095202 179095202 single base substitution C G intron_variant PACA-AU 1 179095511 179095511 single base substitution C T downstream_gene_variant PACA-AU 1 179095511 179095511 single base substitution C T splice_donor_variant PACA-AU 1 179100356 179100356 single base substitution G T exon_variant PACA-AU 1 179100356 179100356 single base substitution G T intron_variant PACA-AU 1 179100382 179100382 single base substitution C T exon_variant PACA-AU 1 179100382 179100382 single base substitution C T intron_variant PACA-AU 1 179103846 179103851 deletion of <=200bp CCTCTC - intron_variant PACA-AU 1 179111518 179111518 single base substitution C A intron_variant PACA-AU 1 179113941 179113941 single base substitution G T intron_variant PACA-AU 1 179113941 179113941 single base substitution G T upstream_gene_variant PACA-AU 1 179115742 179115742 single base substitution G A intron_variant PACA-AU 1 179115742 179115742 single base substitution G A upstream_gene_variant PACA-AU 1 179118584 179118584 single base substitution G A intron_variant PACA-AU 1 179122029 179122029 single base substitution T C intron_variant PACA-AU 1 179122664 179122664 single base substitution A C intron_variant PACA-AU 1 179123948 179123948 single base substitution C T intron_variant PACA-AU 1 179124587 179124587 single base substitution A T intron_variant PACA-AU 1 179124589 179124589 single base substitution G C intron_variant PACA-AU 1 179135842 179135842 single base substitution G C intron_variant PACA-AU 1 179137448 179137448 single base substitution C A intron_variant PACA-AU 1 179147194 179147194 single base substitution C A intron_variant PACA-AU 1 179149056 179149056 single base substitution C T intron_variant PACA-AU 1 179150031 179150031 single base substitution T C intron_variant PACA-AU 1 179154591 179154591 single base substitution T A intron_variant PACA-AU 1 179155805 179155805 insertion of <=200bp - T intron_variant PACA-AU 1 179156428 179156428 single base substitution T C intron_variant PACA-AU 1 179157345 179157345 single base substitution G T intron_variant PACA-AU 1 179165114 179165114 single base substitution T A intron_variant PACA-AU 1 179173905 179173905 single base substitution C A intron_variant PACA-AU 1 179175084 179175084 single base substitution T C intron_variant PACA-AU 1 179193655 179193655 single base substitution C T intron_variant PACA-AU 1 179198796 179198796 single base substitution G A 5_prime_UTR_variant PACA-AU 1 179198796 179198796 single base substitution G A upstream_gene_variant PACA-AU 1 179200333 179200333 single base substitution A G upstream_gene_variant PACA-AU 1 179201809 179201809 insertion of <=200bp - AAATAAAT upstream_gene_variant PACA-AU 1 179202832 179202832 single base substitution G A upstream_gene_variant PACA-CA 1 179066206 179066214 deletion of <=200bp TGGAGCCAG - downstream_gene_variant PACA-CA 1 179066841 179066841 single base substitution G C downstream_gene_variant PACA-CA 1 179071025 179071025 single base substitution G C 3_prime_UTR_variant PACA-CA 1 179071025 179071025 single base substitution G C downstream_gene_variant PACA-CA 1 179079470 179079470 single base substitution T C downstream_gene_variant PACA-CA 1 179079470 179079470 single base substitution T C missense_variant N555S 1664A>G PACA-CA 1 179079470 179079470 single base substitution T C missense_variant N570S 1709A>G PACA-CA 1 179079470 179079470 single base substitution T C missense_variant N576S 1727A>G PACA-CA 1 179079470 179079470 single base substitution T C missense_variant N591S 1772A>G PACA-CA 1 179079801 179079801 single base substitution T G 3_prime_UTR_variant PACA-CA 1 179079801 179079801 single base substitution T G intron_variant PACA-CA 1 179079817 179079817 single base substitution G C 3_prime_UTR_variant PACA-CA 1 179079817 179079817 single base substitution G C intron_variant PACA-CA 1 179081700 179081700 single base substitution T A downstream_gene_variant PACA-CA 1 179081700 179081700 single base substitution T A intron_variant PACA-CA 1 179081840 179081840 single base substitution T G downstream_gene_variant PACA-CA 1 179081840 179081840 single base substitution T G intron_variant PACA-CA 1 179081876 179081876 single base substitution C G downstream_gene_variant PACA-CA 1 179081876 179081876 single base substitution C G intron_variant PACA-CA 1 179083092 179083092 single base substitution A G downstream_gene_variant PACA-CA 1 179083092 179083092 single base substitution A G intron_variant PACA-CA 1 179083305 179083305 single base substitution G A downstream_gene_variant PACA-CA 1 179083305 179083305 single base substitution G A intron_variant PACA-CA 1 179087129 179087129 deletion of <=200bp A - intron_variant PACA-CA 1 179090583 179090583 single base substitution A G intron_variant PACA-CA 1 179092940 179092940 insertion of <=200bp - T intron_variant PACA-CA 1 179095993 179095993 single base substitution C T downstream_gene_variant PACA-CA 1 179095993 179095993 single base substitution C T intron_variant PACA-CA 1 179103912 179103912 single base substitution C T intron_variant PACA-CA 1 179107651 179107651 single base substitution C A intron_variant PACA-CA 1 179108629 179108629 single base substitution G A intron_variant PACA-CA 1 179111842 179111842 single base substitution C G intron_variant PACA-CA 1 179115163 179115163 single base substitution G A intron_variant PACA-CA 1 179115163 179115163 single base substitution G A upstream_gene_variant PACA-CA 1 179117107 179117107 single base substitution T C intron_variant PACA-CA 1 179117107 179117107 single base substitution T C upstream_gene_variant PACA-CA 1 179120895 179120895 single base substitution C T intron_variant PACA-CA 1 179121922 179121922 single base substitution G A intron_variant PACA-CA 1 179123092 179123092 single base substitution C T intron_variant PACA-CA 1 179124922 179124922 deletion of <=200bp A - intron_variant PACA-CA 1 179126494 179126494 single base substitution C T intron_variant PACA-CA 1 179129522 179129522 single base substitution T C intron_variant PACA-CA 1 179131721 179131721 single base substitution A T intron_variant PACA-CA 1 179133490 179133490 deletion of <=200bp T - intron_variant PACA-CA 1 179134672 179134672 single base substitution C G intron_variant PACA-CA 1 179136854 179136854 single base substitution T A intron_variant PACA-CA 1 179141196 179141196 single base substitution G C intron_variant PACA-CA 1 179143190 179143190 single base substitution C T intron_variant PACA-CA 1 179147895 179147895 insertion of <=200bp - G intron_variant PACA-CA 1 179149273 179149273 single base substitution A G intron_variant PACA-CA 1 179149407 179149407 single base substitution G A intron_variant PACA-CA 1 179152510 179152510 single base substitution C A intron_variant PACA-CA 1 179153918 179153918 single base substitution G A intron_variant PACA-CA 1 179154574 179154574 insertion of <=200bp - T intron_variant PACA-CA 1 179157535 179157535 single base substitution A T intron_variant PACA-CA 1 179157743 179157743 single base substitution T G intron_variant PACA-CA 1 179159943 179159943 single base substitution A C intron_variant PACA-CA 1 179163007 179163007 single base substitution C A intron_variant PACA-CA 1 179170087 179170087 single base substitution C G intron_variant PACA-CA 1 179171624 179171624 single base substitution T A intron_variant PACA-CA 1 179172343 179172343 single base substitution A G intron_variant PACA-CA 1 179173303 179173303 single base substitution A G intron_variant PACA-CA 1 179175224 179175224 single base substitution G C intron_variant PACA-CA 1 179177430 179177430 deletion of <=200bp C - intron_variant PACA-CA 1 179179280 179179280 single base substitution G A intron_variant PACA-CA 1 179179881 179179881 single base substitution C T intron_variant PACA-CA 1 179180941 179180941 single base substitution A T intron_variant PACA-CA 1 179191502 179191502 single base substitution T C intron_variant PACA-CA 1 179194620 179194620 single base substitution C T intron_variant PACA-CA 1 179194653 179194653 single base substitution A T intron_variant PACA-CA 1 179197893 179197893 single base substitution T G intron_variant PACA-CA 1 179199817 179199817 single base substitution A T upstream_gene_variant PACA-CA 1 179203626 179203626 single base substitution T A upstream_gene_variant PAEN-AU 1 179081632 179081632 single base substitution T C downstream_gene_variant PAEN-AU 1 179081632 179081632 single base substitution T C intron_variant PAEN-AU 1 179116081 179116083 deletion of <=200bp ACA - intron_variant PAEN-AU 1 179116081 179116083 deletion of <=200bp ACA - upstream_gene_variant PAEN-IT 1 179072171 179072171 single base substitution A C 3_prime_UTR_variant PAEN-IT 1 179072171 179072171 single base substitution A C downstream_gene_variant PAEN-IT 1 179181358 179181358 single base substitution C A intron_variant PBCA-DE 1 179072188 179072188 single base substitution T C 3_prime_UTR_variant PBCA-DE 1 179072188 179072188 single base substitution T C downstream_gene_variant PBCA-DE 1 179087017 179087017 single base substitution G A intron_variant PBCA-DE 1 179096345 179096345 insertion of <=200bp - A downstream_gene_variant PBCA-DE 1 179096345 179096345 insertion of <=200bp - A intron_variant PBCA-DE 1 179105204 179105204 single base substitution C T intron_variant PBCA-DE 1 179115811 179115811 single base substitution T C intron_variant PBCA-DE 1 179115811 179115811 single base substitution T C upstream_gene_variant PBCA-DE 1 179116198 179116198 deletion of <=200bp A - intron_variant PBCA-DE 1 179116198 179116198 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 179125962 179125962 single base substitution G A intron_variant PBCA-DE 1 179132881 179132881 insertion of <=200bp - CAAAAAC intron_variant PBCA-DE 1 179142339 179142339 single base substitution C A intron_variant PBCA-DE 1 179159123 179159123 insertion of <=200bp - TTT intron_variant PBCA-DE 1 179163915 179163915 single base substitution C T intron_variant PBCA-DE 1 179164841 179164841 single base substitution A T intron_variant PBCA-DE 1 179165730 179165730 single base substitution A G intron_variant PBCA-DE 1 179165922 179165922 insertion of <=200bp - A intron_variant PBCA-DE 1 179168436 179168436 single base substitution A T intron_variant PBCA-DE 1 179174902 179174902 single base substitution C T intron_variant PBCA-DE 1 179182826 179182826 single base substitution G T intron_variant PBCA-DE 1 179185179 179185181 deletion of <=200bp CTT - intron_variant PBCA-DE 1 179190694 179190694 single base substitution C G intron_variant PBCA-DE 1 179193806 179193806 single base substitution T C intron_variant PBCA-DE 1 179201809 179201809 insertion of <=200bp - AAATAAAT upstream_gene_variant PRAD-CA 1 179073121 179073121 single base substitution C T 3_prime_UTR_variant PRAD-CA 1 179073121 179073121 single base substitution C T downstream_gene_variant PRAD-CA 1 179079076 179079076 single base substitution G A downstream_gene_variant PRAD-CA 1 179079076 179079076 single base substitution G A intron_variant PRAD-CA 1 179086426 179086426 single base substitution A T exon_variant PRAD-CA 1 179086426 179086426 single base substitution A T intron_variant PRAD-CA 1 179148862 179148862 single base substitution G C intron_variant PRAD-CA 1 179183877 179183877 single base substitution T C intron_variant PRAD-CA 1 179187405 179187405 single base substitution A C intron_variant PRAD-UK 1 179070524 179070524 single base substitution T C 3_prime_UTR_variant PRAD-UK 1 179070524 179070524 single base substitution T C downstream_gene_variant PRAD-UK 1 179084814 179084814 insertion of <=200bp - G downstream_gene_variant PRAD-UK 1 179084814 179084814 insertion of <=200bp - G intron_variant PRAD-UK 1 179152729 179152729 deletion of <=200bp A - intron_variant PRAD-UK 1 179153139 179153139 single base substitution T C intron_variant PRAD-UK 1 179188220 179188220 single base substitution C A intron_variant PRAD-UK 1 179195198 179195206 deletion of <=200bp AAAAAAAAG - intron_variant READ-US 1 179078125 179078125 single base substitution C A downstream_gene_variant READ-US 1 179078125 179078125 single base substitution C A intron_variant READ-US 1 179078125 179078125 single base substitution C A missense_variant K723N 2169G>T READ-US 1 179078125 179078125 single base substitution C A missense_variant K738N 2214G>T READ-US 1 179078125 179078125 single base substitution C A missense_variant K744N 2232G>T READ-US 1 179078125 179078125 single base substitution C A missense_variant K759N 2277G>T READ-US 1 179081513 179081513 single base substitution C T downstream_gene_variant READ-US 1 179081513 179081513 single base substitution C T missense_variant D492N 1474G>A READ-US 1 179081513 179081513 single base substitution C T missense_variant D507N 1519G>A READ-US 1 179081513 179081513 single base substitution C T missense_variant D513N 1537G>A READ-US 1 179081513 179081513 single base substitution C T missense_variant D528N 1582G>A READ-US 1 179095594 179095594 single base substitution C T downstream_gene_variant READ-US 1 179095594 179095594 single base substitution C T exon_variant READ-US 1 179095594 179095594 single base substitution C T missense_variant S166N 497G>A READ-US 1 179095594 179095594 single base substitution C T missense_variant S181N 542G>A READ-US 1 179095594 179095594 single base substitution C T missense_variant S187N 560G>A READ-US 1 179095594 179095594 single base substitution C T missense_variant S202N 605G>A RECA-EU 1 179068781 179068781 single base substitution C G 3_prime_UTR_variant RECA-EU 1 179068781 179068781 single base substitution C G downstream_gene_variant RECA-EU 1 179076554 179076554 single base substitution T A 3_prime_UTR_variant RECA-EU 1 179076554 179076554 single base substitution T A downstream_gene_variant RECA-EU 1 179118049 179118049 single base substitution G A intron_variant RECA-EU 1 179118051 179118051 single base substitution A G intron_variant RECA-EU 1 179125426 179125426 single base substitution T C intron_variant RECA-EU 1 179135505 179135505 single base substitution T G intron_variant RECA-EU 1 179139754 179139754 single base substitution G A intron_variant RECA-EU 1 179148192 179148192 single base substitution A G intron_variant RECA-EU 1 179149064 179149064 single base substitution T A intron_variant RECA-EU 1 179152629 179152629 single base substitution T C intron_variant RECA-EU 1 179161946 179161946 single base substitution T C intron_variant RECA-EU 1 179182196 179182196 single base substitution A G intron_variant RECA-EU 1 179187323 179187323 single base substitution C G intron_variant RECA-EU 1 179187324 179187324 single base substitution C A intron_variant RECA-EU 1 179189333 179189333 single base substitution C G intron_variant RECA-EU 1 179193917 179193917 single base substitution G C intron_variant RECA-EU 1 179194179 179194179 single base substitution A T intron_variant SKCA-BR 1 179073039 179073039 single base substitution C G 3_prime_UTR_variant SKCA-BR 1 179073039 179073039 single base substitution C G downstream_gene_variant SKCA-BR 1 179078529 179078529 single base substitution G A downstream_gene_variant SKCA-BR 1 179078529 179078529 single base substitution G A stop_gained R589* 1765C>T SKCA-BR 1 179078529 179078529 single base substitution G A stop_gained R604* 1810C>T SKCA-BR 1 179078529 179078529 single base substitution G A stop_gained R610* 1828C>T SKCA-BR 1 179078529 179078529 single base substitution G A stop_gained R625* 1873C>T SKCA-BR 1 179079407 179079407 single base substitution G A downstream_gene_variant SKCA-BR 1 179079407 179079407 single base substitution G A intron_variant SKCA-BR 1 179082557 179082557 single base substitution G A downstream_gene_variant SKCA-BR 1 179082557 179082557 single base substitution G A intron_variant SKCA-BR 1 179084041 179084041 single base substitution G A downstream_gene_variant SKCA-BR 1 179084041 179084041 single base substitution G A synonymous_variant P475P 1425C>T SKCA-BR 1 179084041 179084041 single base substitution G A synonymous_variant P490P 1470C>T SKCA-BR 1 179084041 179084041 single base substitution G A synonymous_variant P496P 1488C>T SKCA-BR 1 179084041 179084041 single base substitution G A synonymous_variant P511P 1533C>T SKCA-BR 1 179084042 179084042 single base substitution G A downstream_gene_variant SKCA-BR 1 179084042 179084042 single base substitution G A missense_variant P475L 1424C>T SKCA-BR 1 179084042 179084042 single base substitution G A missense_variant P490L 1469C>T SKCA-BR 1 179084042 179084042 single base substitution G A missense_variant P496L 1487C>T SKCA-BR 1 179084042 179084042 single base substitution G A missense_variant P511L 1532C>T SKCA-BR 1 179085206 179085206 single base substitution G A downstream_gene_variant SKCA-BR 1 179085206 179085206 single base substitution G A intron_variant SKCA-BR 1 179087934 179087934 single base substitution T C intron_variant SKCA-BR 1 179088657 179088657 insertion of <=200bp - CA intron_variant SKCA-BR 1 179088926 179088926 single base substitution G C intron_variant SKCA-BR 1 179091411 179091413 deletion of <=200bp TAA - intron_variant SKCA-BR 1 179095503 179095503 single base substitution G A downstream_gene_variant SKCA-BR 1 179095503 179095503 single base substitution G A intron_variant SKCA-BR 1 179095564 179095564 single base substitution C A downstream_gene_variant SKCA-BR 1 179095564 179095564 single base substitution C A exon_variant SKCA-BR 1 179095564 179095564 single base substitution C A missense_variant R176M 527G>T SKCA-BR 1 179095564 179095564 single base substitution C A missense_variant R191M 572G>T SKCA-BR 1 179095564 179095564 single base substitution C A missense_variant R197M 590G>T SKCA-BR 1 179095564 179095564 single base substitution C A missense_variant R212M 635G>T SKCA-BR 1 179097165 179097165 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 1 179097165 179097165 insertion of <=200bp - TA intron_variant SKCA-BR 1 179099861 179099861 insertion of <=200bp - TTGTG downstream_gene_variant SKCA-BR 1 179099861 179099861 insertion of <=200bp - TTGTG intron_variant SKCA-BR 1 179099861 179099879 deletion of <=200bp TTGTGTGTGTGTGTGTGTG - downstream_gene_variant SKCA-BR 1 179099861 179099879 deletion of <=200bp TTGTGTGTGTGTGTGTGTG - intron_variant SKCA-BR 1 179104518 179104518 single base substitution A C intron_variant SKCA-BR 1 179104910 179104910 single base substitution T G intron_variant SKCA-BR 1 179105878 179105878 insertion of <=200bp - AAT intron_variant SKCA-BR 1 179106034 179106034 single base substitution A C intron_variant SKCA-BR 1 179106386 179106386 single base substitution G A intron_variant SKCA-BR 1 179106481 179106481 single base substitution G A intron_variant SKCA-BR 1 179108100 179108100 single base substitution G C intron_variant SKCA-BR 1 179108122 179108122 single base substitution T C intron_variant SKCA-BR 1 179111719 179111719 single base substitution C T intron_variant SKCA-BR 1 179116271 179116271 single base substitution C A intron_variant SKCA-BR 1 179116271 179116271 single base substitution C A upstream_gene_variant SKCA-BR 1 179117174 179117174 insertion of <=200bp - CT intron_variant SKCA-BR 1 179117174 179117174 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 179118047 179118049 deletion of <=200bp AAG - intron_variant SKCA-BR 1 179118048 179118048 single base substitution A G intron_variant SKCA-BR 1 179118049 179118051 deletion of <=200bp GGA - intron_variant SKCA-BR 1 179118050 179118051 deletion of <=200bp GA - intron_variant SKCA-BR 1 179118347 179118347 single base substitution A C intron_variant SKCA-BR 1 179126842 179126842 insertion of <=200bp - CT intron_variant SKCA-BR 1 179132708 179132708 single base substitution C T intron_variant SKCA-BR 1 179135420 179135420 single base substitution G A intron_variant SKCA-BR 1 179135529 179135530 deletion of <=200bp TA - intron_variant SKCA-BR 1 179135930 179135930 single base substitution G A intron_variant SKCA-BR 1 179139793 179139793 single base substitution G A intron_variant SKCA-BR 1 179142493 179142495 deletion of <=200bp ATT - intron_variant SKCA-BR 1 179144040 179144044 deletion of <=200bp AAAAT - intron_variant SKCA-BR 1 179144982 179144982 insertion of <=200bp - CTT intron_variant SKCA-BR 1 179147849 179147849 single base substitution A C intron_variant SKCA-BR 1 179147958 179147958 single base substitution G A intron_variant SKCA-BR 1 179149013 179149013 single base substitution A G intron_variant SKCA-BR 1 179149031 179149031 single base substitution T G intron_variant SKCA-BR 1 179149291 179149291 single base substitution G A intron_variant SKCA-BR 1 179153739 179153739 single base substitution T C intron_variant SKCA-BR 1 179156713 179156713 single base substitution A G intron_variant SKCA-BR 1 179157191 179157191 single base substitution T C intron_variant SKCA-BR 1 179158932 179158932 single base substitution G A intron_variant SKCA-BR 1 179165921 179165921 insertion of <=200bp - CA intron_variant SKCA-BR 1 179170641 179170641 single base substitution C T intron_variant SKCA-BR 1 179171877 179171877 single base substitution G T intron_variant SKCA-BR 1 179174164 179174164 insertion of <=200bp - CT intron_variant SKCA-BR 1 179174933 179174933 single base substitution T A intron_variant SKCA-BR 1 179174975 179174975 single base substitution G A intron_variant SKCA-BR 1 179180931 179180931 insertion of <=200bp - AT intron_variant SKCA-BR 1 179181190 179181190 single base substitution G A intron_variant SKCA-BR 1 179182477 179182477 single base substitution C T intron_variant SKCA-BR 1 179183846 179183846 single base substitution G A intron_variant SKCA-BR 1 179186012 179186012 single base substitution T G intron_variant SKCA-BR 1 179187544 179187544 insertion of <=200bp - CT intron_variant SKCA-BR 1 179188202 179188202 single base substitution G A intron_variant SKCA-BR 1 179196381 179196381 single base substitution G A intron_variant SKCA-BR 1 179197227 179197227 single base substitution T G intron_variant SKCA-BR 1 179200468 179200468 single base substitution C T upstream_gene_variant SKCA-BR 1 179200877 179200877 single base substitution T G upstream_gene_variant SKCA-BR 1 179201808 179201808 insertion of <=200bp - AAAATAAATAAAT upstream_gene_variant SKCA-BR 1 179201852 179201852 single base substitution C T upstream_gene_variant SKCA-BR 1 179203039 179203039 single base substitution C G upstream_gene_variant SKCM-US 1 179064224 179064224 single base substitution G C downstream_gene_variant SKCM-US 1 179064332 179064332 single base substitution G A downstream_gene_variant SKCM-US 1 179076997 179076997 single base substitution G A downstream_gene_variant SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A1011A 3033C>T SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A1017A 3051C>T SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A1032A 3096C>T SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A1099A 3297C>T SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A1114A 3342C>T SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A1120A 3360C>T SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A1135A 3405C>T SKCM-US 1 179076997 179076997 single base substitution G A synonymous_variant A996A 2988C>T SKCM-US 1 179077360 179077360 single base substitution G A downstream_gene_variant SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S1014S 3042C>T SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S875S 2625C>T SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S890S 2670C>T SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S896S 2688C>T SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S911S 2733C>T SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S978S 2934C>T SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S993S 2979C>T SKCM-US 1 179077360 179077360 single base substitution G A synonymous_variant S999S 2997C>T SKCM-US 1 179077499 179077499 single base substitution G A downstream_gene_variant SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S829F 2486C>T SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S844F 2531C>T SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S850F 2549C>T SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S865F 2594C>T SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S932F 2795C>T SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S947F 2840C>T SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S953F 2858C>T SKCM-US 1 179077499 179077499 single base substitution G A missense_variant S968F 2903C>T SKCM-US 1 179077937 179077937 single base substitution G A downstream_gene_variant SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P683L 2048C>T SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P698L 2093C>T SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P704L 2111C>T SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P719L 2156C>T SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P786L 2357C>T SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P801L 2402C>T SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P807L 2420C>T SKCM-US 1 179077937 179077937 single base substitution G A missense_variant P822L 2465C>T SKCM-US 1 179078028 179078028 single base substitution G A downstream_gene_variant SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P653S 1957C>T SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P668S 2002C>T SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P674S 2020C>T SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P689S 2065C>T SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P756S 2266C>T SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P771S 2311C>T SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P777S 2329C>T SKCM-US 1 179078028 179078028 single base substitution G A missense_variant P792S 2374C>T SKCM-US 1 179078078 179078078 single base substitution G A downstream_gene_variant SKCM-US 1 179078078 179078078 single base substitution G A intron_variant SKCM-US 1 179078078 179078078 single base substitution G A missense_variant S739F 2216C>T SKCM-US 1 179078078 179078078 single base substitution G A missense_variant S754F 2261C>T SKCM-US 1 179078078 179078078 single base substitution G A missense_variant S760F 2279C>T SKCM-US 1 179078078 179078078 single base substitution G A missense_variant S775F 2324C>T SKCM-US 1 179078330 179078330 single base substitution G A downstream_gene_variant SKCM-US 1 179078330 179078330 single base substitution G A intron_variant SKCM-US 1 179078330 179078330 single base substitution G A missense_variant S655F 1964C>T SKCM-US 1 179078330 179078330 single base substitution G A missense_variant S670F 2009C>T SKCM-US 1 179078330 179078330 single base substitution G A missense_variant S676F 2027C>T SKCM-US 1 179078330 179078330 single base substitution G A missense_variant S691F 2072C>T SKCM-US 1 179078493 179078493 deletion of <=200bp C - downstream_gene_variant SKCM-US 1 179078493 179078493 deletion of <=200bp C - frameshift_variant E601 SKCM-US 1 179078493 179078493 deletion of <=200bp C - frameshift_variant E616 SKCM-US 1 179078493 179078493 deletion of <=200bp C - frameshift_variant E622 SKCM-US 1 179078493 179078493 deletion of <=200bp C - frameshift_variant E637 SKCM-US 1 179079431 179079431 single base substitution G A downstream_gene_variant SKCM-US 1 179079431 179079431 single base substitution G A missense_variant S568F 1703C>T SKCM-US 1 179079431 179079431 single base substitution G A missense_variant S583F 1748C>T SKCM-US 1 179079431 179079431 single base substitution G A missense_variant S589F 1766C>T SKCM-US 1 179079431 179079431 single base substitution G A missense_variant S604F 1811C>T SKCM-US 1 179084114 179084114 single base substitution G A downstream_gene_variant SKCM-US 1 179084114 179084114 single base substitution G A missense_variant P451L 1352C>T SKCM-US 1 179084114 179084114 single base substitution G A missense_variant P466L 1397C>T SKCM-US 1 179084114 179084114 single base substitution G A missense_variant P472L 1415C>T SKCM-US 1 179084114 179084114 single base substitution G A missense_variant P487L 1460C>T SKCM-US 1 179084119 179084119 single base substitution T C downstream_gene_variant SKCM-US 1 179084119 179084119 single base substitution T C synonymous_variant P449P 1347A>G SKCM-US 1 179084119 179084119 single base substitution T C synonymous_variant P464P 1392A>G SKCM-US 1 179084119 179084119 single base substitution T C synonymous_variant P470P 1410A>G SKCM-US 1 179084119 179084119 single base substitution T C synonymous_variant P485P 1455A>G SKCM-US 1 179086514 179086514 single base substitution G A exon_variant SKCM-US 1 179086514 179086514 single base substitution G A missense_variant P418L 1253C>T SKCM-US 1 179086514 179086514 single base substitution G A missense_variant P433L 1298C>T SKCM-US 1 179086514 179086514 single base substitution G A missense_variant P439L 1316C>T SKCM-US 1 179086514 179086514 single base substitution G A missense_variant P454L 1361C>T SKCM-US 1 179087822 179087822 single base substitution C T exon_variant SKCM-US 1 179087822 179087822 single base substitution C T missense_variant E339K 1015G>A SKCM-US 1 179087822 179087822 single base substitution C T missense_variant E354K 1060G>A SKCM-US 1 179087822 179087822 single base substitution C T missense_variant E360K 1078G>A SKCM-US 1 179087822 179087822 single base substitution C T missense_variant E375K 1123G>A SKCM-US 1 179095614 179095614 single base substitution G A downstream_gene_variant SKCM-US 1 179095614 179095614 single base substitution G A exon_variant SKCM-US 1 179095614 179095614 single base substitution G A synonymous_variant F159F 477C>T SKCM-US 1 179095614 179095614 single base substitution G A synonymous_variant F174F 522C>T SKCM-US 1 179095614 179095614 single base substitution G A synonymous_variant F180F 540C>T SKCM-US 1 179095614 179095614 single base substitution G A synonymous_variant F195F 585C>T SKCM-US 1 179095686 179095687 deletion of <=200bp GT - downstream_gene_variant SKCM-US 1 179095686 179095687 deletion of <=200bp GT - exon_variant SKCM-US 1 179095686 179095687 deletion of <=200bp GT - frameshift_variant H135 SKCM-US 1 179095686 179095687 deletion of <=200bp GT - frameshift_variant H150 SKCM-US 1 179095686 179095687 deletion of <=200bp GT - frameshift_variant H156 SKCM-US 1 179095686 179095687 deletion of <=200bp GT - frameshift_variant H171 SKCM-US 1 179095764 179095764 single base substitution C T downstream_gene_variant SKCM-US 1 179095764 179095764 single base substitution C T exon_variant SKCM-US 1 179095764 179095764 single base substitution C T stop_gained W109* 327G>A SKCM-US 1 179095764 179095764 single base substitution C T stop_gained W124* 372G>A SKCM-US 1 179095764 179095764 single base substitution C T stop_gained W130* 390G>A SKCM-US 1 179095764 179095764 single base substitution C T stop_gained W145* 435G>A SKCM-US 1 179100501 179100501 single base substitution G A exon_variant SKCM-US 1 179100501 179100501 single base substitution G A synonymous_variant F112F 336C>T SKCM-US 1 179100501 179100501 single base substitution G A synonymous_variant F76F 228C>T SKCM-US 1 179100501 179100501 single base substitution G A synonymous_variant F91F 273C>T SKCM-US 1 179100501 179100501 single base substitution G A synonymous_variant F97F 291C>T STAD-US 1 179077212 179077212 single base substitution C A downstream_gene_variant STAD-US 1 179077212 179077212 single base substitution C A missense_variant G1028C 3082G>T STAD-US 1 179077212 179077212 single base substitution C A missense_variant G1043C 3127G>T STAD-US 1 179077212 179077212 single base substitution C A missense_variant G1049C 3145G>T STAD-US 1 179077212 179077212 single base substitution C A missense_variant G1064C 3190G>T STAD-US 1 179077212 179077212 single base substitution C A missense_variant G925C 2773G>T STAD-US 1 179077212 179077212 single base substitution C A missense_variant G940C 2818G>T STAD-US 1 179077212 179077212 single base substitution C A missense_variant G946C 2836G>T STAD-US 1 179077212 179077212 single base substitution C A missense_variant G961C 2881G>T STAD-US 1 179077318 179077318 single base substitution G A downstream_gene_variant STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G1007G 3021C>T STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G1013G 3039C>T STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G1028G 3084C>T STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G889G 2667C>T STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G904G 2712C>T STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G910G 2730C>T STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G925G 2775C>T STAD-US 1 179077318 179077318 single base substitution G A synonymous_variant G992G 2976C>T STAD-US 1 179077710 179077710 single base substitution G A downstream_gene_variant STAD-US 1 179077710 179077710 single base substitution G A stop_gained R759* 2275C>T STAD-US 1 179077710 179077710 single base substitution G A stop_gained R774* 2320C>T STAD-US 1 179077710 179077710 single base substitution G A stop_gained R780* 2338C>T STAD-US 1 179077710 179077710 single base substitution G A stop_gained R795* 2383C>T STAD-US 1 179077710 179077710 single base substitution G A stop_gained R862* 2584C>T STAD-US 1 179077710 179077710 single base substitution G A stop_gained R877* 2629C>T STAD-US 1 179077710 179077710 single base substitution G A stop_gained R883* 2647C>T STAD-US 1 179077710 179077710 single base substitution G A stop_gained R898* 2692C>T STAD-US 1 179077894 179077894 deletion of <=200bp T - downstream_gene_variant STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K697 STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K712 STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K718 STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K733 STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K800 STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K815 STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K821 STAD-US 1 179077894 179077894 deletion of <=200bp T - frameshift_variant K836 STAD-US 1 179077894 179077894 insertion of <=200bp - T downstream_gene_variant STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K697K? STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K712K? STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K718K? STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K733K? STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K800K? STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K815K? STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K821K? STAD-US 1 179077894 179077894 insertion of <=200bp - T frameshift_variant K836K? STAD-US 1 179078099 179078099 single base substitution G A downstream_gene_variant STAD-US 1 179078099 179078099 single base substitution G A intron_variant STAD-US 1 179078099 179078099 single base substitution G A missense_variant P732L 2195C>T STAD-US 1 179078099 179078099 single base substitution G A missense_variant P747L 2240C>T STAD-US 1 179078099 179078099 single base substitution G A missense_variant P753L 2258C>T STAD-US 1 179078099 179078099 single base substitution G A missense_variant P768L 2303C>T STAD-US 1 179078138 179078138 single base substitution C T downstream_gene_variant STAD-US 1 179078138 179078138 single base substitution C T intron_variant STAD-US 1 179078138 179078138 single base substitution C T missense_variant R719H 2156G>A STAD-US 1 179078138 179078138 single base substitution C T missense_variant R734H 2201G>A STAD-US 1 179078138 179078138 single base substitution C T missense_variant R740H 2219G>A STAD-US 1 179078138 179078138 single base substitution C T missense_variant R755H 2264G>A STAD-US 1 179078139 179078139 single base substitution G A downstream_gene_variant STAD-US 1 179078139 179078139 single base substitution G A intron_variant STAD-US 1 179078139 179078139 single base substitution G A missense_variant R719C 2155C>T STAD-US 1 179078139 179078139 single base substitution G A missense_variant R734C 2200C>T STAD-US 1 179078139 179078139 single base substitution G A missense_variant R740C 2218C>T STAD-US 1 179078139 179078139 single base substitution G A missense_variant R755C 2263C>T STAD-US 1 179086567 179086567 single base substitution T C exon_variant STAD-US 1 179086567 179086567 single base substitution T C synonymous_variant G400G 1200A>G STAD-US 1 179086567 179086567 single base substitution T C synonymous_variant G415G 1245A>G STAD-US 1 179086567 179086567 single base substitution T C synonymous_variant G421G 1263A>G STAD-US 1 179086567 179086567 single base substitution T C synonymous_variant G436G 1308A>G STAD-US 1 179089336 179089336 single base substitution A G exon_variant STAD-US 1 179089336 179089336 single base substitution A G missense_variant V309A 926T>C STAD-US 1 179089336 179089336 single base substitution A G missense_variant V324A 971T>C STAD-US 1 179089336 179089336 single base substitution A G missense_variant V330A 989T>C STAD-US 1 179089336 179089336 single base substitution A G missense_variant V345A 1034T>C STAD-US 1 179089374 179089374 single base substitution T G exon_variant STAD-US 1 179089374 179089374 single base substitution T G missense_variant E296D 888A>C STAD-US 1 179089374 179089374 single base substitution T G missense_variant E311D 933A>C STAD-US 1 179089374 179089374 single base substitution T G missense_variant E317D 951A>C STAD-US 1 179089374 179089374 single base substitution T G missense_variant E332D 996A>C STAD-US 1 179090927 179090927 single base substitution G A exon_variant STAD-US 1 179090927 179090927 single base substitution G A synonymous_variant L219L 655C>T STAD-US 1 179090927 179090927 single base substitution G A synonymous_variant L234L 700C>T STAD-US 1 179090927 179090927 single base substitution G A synonymous_variant L240L 718C>T STAD-US 1 179090927 179090927 single base substitution G A synonymous_variant L255L 763C>T STAD-US 1 179095648 179095648 single base substitution T C downstream_gene_variant STAD-US 1 179095648 179095648 single base substitution T C exon_variant STAD-US 1 179095648 179095648 single base substitution T C missense_variant E148G 443A>G STAD-US 1 179095648 179095648 single base substitution T C missense_variant E163G 488A>G STAD-US 1 179095648 179095648 single base substitution T C missense_variant E169G 506A>G STAD-US 1 179095648 179095648 single base substitution T C missense_variant E184G 551A>G THCA-SA 1 179077613 179077613 single base substitution T C downstream_gene_variant THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K791R 2372A>G THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K806R 2417A>G THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K812R 2435A>G THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K827R 2480A>G THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K894R 2681A>G THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K909R 2726A>G THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K915R 2744A>G THCA-SA 1 179077613 179077613 single base substitution T C missense_variant K930R 2789A>G THCA-US 1 179077163 179077163 single base substitution G C downstream_gene_variant THCA-US 1 179077163 179077163 single base substitution G C stop_gained S1044* 3131C>G THCA-US 1 179077163 179077163 single base substitution G C stop_gained S1059* 3176C>G THCA-US 1 179077163 179077163 single base substitution G C stop_gained S1065* 3194C>G THCA-US 1 179077163 179077163 single base substitution G C stop_gained S1080* 3239C>G THCA-US 1 179077163 179077163 single base substitution G C stop_gained S941* 2822C>G THCA-US 1 179077163 179077163 single base substitution G C stop_gained S956* 2867C>G THCA-US 1 179077163 179077163 single base substitution G C stop_gained S962* 2885C>G THCA-US 1 179077163 179077163 single base substitution G C stop_gained S977* 2930C>G THCA-US 1 179077269 179077269 single base substitution G A downstream_gene_variant THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q1009* 3025C>T THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q1024* 3070C>T THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q1030* 3088C>T THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q1045* 3133C>T THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q906* 2716C>T THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q921* 2761C>T THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q927* 2779C>T THCA-US 1 179077269 179077269 single base substitution G A stop_gained Q942* 2824C>T THCA-US 1 179090742 179090742 single base substitution C T exon_variant THCA-US 1 179090742 179090742 single base substitution C T synonymous_variant V280V 840G>A THCA-US 1 179090742 179090742 single base substitution C T synonymous_variant V295V 885G>A THCA-US 1 179090742 179090742 single base substitution C T synonymous_variant V301V 903G>A THCA-US 1 179090742 179090742 single base substitution C T synonymous_variant V316V 948G>A THCA-US 1 179112141 179112141 single base substitution A G exon_variant THCA-US 1 179112141 179112141 single base substitution A G intron_variant THCA-US 1 179112141 179112141 single base substitution A G synonymous_variant Y13Y 39T>C UCEC-US 1 179076870 179076870 single base substitution C A downstream_gene_variant UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1039Y 3115G>T UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1054Y 3160G>T UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1060Y 3178G>T UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1075Y 3223G>T UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1142Y 3424G>T UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1157Y 3469G>T UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1163Y 3487G>T UCEC-US 1 179076870 179076870 single base substitution C A missense_variant D1178Y 3532G>T UCEC-US 1 179076972 179076972 single base substitution C T downstream_gene_variant UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1005K 3013G>A UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1020K 3058G>A UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1026K 3076G>A UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1041K 3121G>A UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1108K 3322G>A UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1123K 3367G>A UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1129K 3385G>A UCEC-US 1 179076972 179076972 single base substitution C T missense_variant E1144K 3430G>A UCEC-US 1 179077029 179077029 single base substitution C A downstream_gene_variant UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D1001Y 3001G>T UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D1007Y 3019G>T UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D1022Y 3064G>T UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D1089Y 3265G>T UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D1104Y 3310G>T UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D1110Y 3328G>T UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D1125Y 3373G>T UCEC-US 1 179077029 179077029 single base substitution C A missense_variant D986Y 2956G>T UCEC-US 1 179077240 179077240 single base substitution C T downstream_gene_variant UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S1018S 3054G>A UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S1033S 3099G>A UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S1039S 3117G>A UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S1054S 3162G>A UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S915S 2745G>A UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S930S 2790G>A UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S936S 2808G>A UCEC-US 1 179077240 179077240 single base substitution C T synonymous_variant S951S 2853G>A UCEC-US 1 179077329 179077329 single base substitution C T downstream_gene_variant UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A1004T 3010G>A UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A1010T 3028G>A UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A1025T 3073G>A UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A886T 2656G>A UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A901T 2701G>A UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A907T 2719G>A UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A922T 2764G>A UCEC-US 1 179077329 179077329 single base substitution C T missense_variant A989T 2965G>A UCEC-US 1 179077589 179077589 single base substitution G T downstream_gene_variant UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T799N 2396C>A UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T814N 2441C>A UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T820N 2459C>A UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T835N 2504C>A UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T902N 2705C>A UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T917N 2750C>A UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T923N 2768C>A UCEC-US 1 179077589 179077589 single base substitution G T missense_variant T938N 2813C>A UCEC-US 1 179077805 179077805 single base substitution G T downstream_gene_variant UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S727Y 2180C>A UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S742Y 2225C>A UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S748Y 2243C>A UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S763Y 2288C>A UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S830Y 2489C>A UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S845Y 2534C>A UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S851Y 2552C>A UCEC-US 1 179077805 179077805 single base substitution G T missense_variant S866Y 2597C>A UCEC-US 1 179077836 179077836 single base substitution C A downstream_gene_variant UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G717* 2149G>T UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G732* 2194G>T UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G738* 2212G>T UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G753* 2257G>T UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G820* 2458G>T UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G835* 2503G>T UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G841* 2521G>T UCEC-US 1 179077836 179077836 single base substitution C A stop_gained G856* 2566G>T UCEC-US 1 179078125 179078125 single base substitution C A downstream_gene_variant UCEC-US 1 179078125 179078125 single base substitution C A intron_variant UCEC-US 1 179078125 179078125 single base substitution C A missense_variant K723N 2169G>T UCEC-US 1 179078125 179078125 single base substitution C A missense_variant K738N 2214G>T UCEC-US 1 179078125 179078125 single base substitution C A missense_variant K744N 2232G>T UCEC-US 1 179078125 179078125 single base substitution C A missense_variant K759N 2277G>T UCEC-US 1 179078402 179078402 single base substitution T C downstream_gene_variant UCEC-US 1 179078402 179078402 single base substitution T C missense_variant K631R 1892A>G UCEC-US 1 179078402 179078402 single base substitution T C missense_variant K646R 1937A>G UCEC-US 1 179078402 179078402 single base substitution T C missense_variant K652R 1955A>G UCEC-US 1 179078402 179078402 single base substitution T C missense_variant K667R 2000A>G UCEC-US 1 179078423 179078423 single base substitution C A downstream_gene_variant UCEC-US 1 179078423 179078423 single base substitution C A missense_variant R624I 1871G>T UCEC-US 1 179078423 179078423 single base substitution C A missense_variant R639I 1916G>T UCEC-US 1 179078423 179078423 single base substitution C A missense_variant R645I 1934G>T UCEC-US 1 179078423 179078423 single base substitution C A missense_variant R660I 1979G>T UCEC-US 1 179078479 179078479 single base substitution C A downstream_gene_variant UCEC-US 1 179078479 179078479 single base substitution C A missense_variant E605D 1815G>T UCEC-US 1 179078479 179078479 single base substitution C A missense_variant E620D 1860G>T UCEC-US 1 179078479 179078479 single base substitution C A missense_variant E626D 1878G>T UCEC-US 1 179078479 179078479 single base substitution C A missense_variant E641D 1923G>T UCEC-US 1 179079565 179079565 single base substitution G A downstream_gene_variant UCEC-US 1 179079565 179079565 single base substitution G A synonymous_variant A523A 1569C>T UCEC-US 1 179079565 179079565 single base substitution G A synonymous_variant A538A 1614C>T UCEC-US 1 179079565 179079565 single base substitution G A synonymous_variant A544A 1632C>T UCEC-US 1 179079565 179079565 single base substitution G A synonymous_variant A559A 1677C>T UCEC-US 1 179084162 179084162 single base substitution A C downstream_gene_variant UCEC-US 1 179084162 179084162 single base substitution A C missense_variant F435C 1304T>G UCEC-US 1 179084162 179084162 single base substitution A C missense_variant F450C 1349T>G UCEC-US 1 179084162 179084162 single base substitution A C missense_variant F456C 1367T>G UCEC-US 1 179084162 179084162 single base substitution A C missense_variant F471C 1412T>G UCEC-US 1 179086602 179086602 single base substitution C T exon_variant UCEC-US 1 179086602 179086602 single base substitution C T missense_variant V389M 1165G>A UCEC-US 1 179086602 179086602 single base substitution C T missense_variant V404M 1210G>A UCEC-US 1 179086602 179086602 single base substitution C T missense_variant V410M 1228G>A UCEC-US 1 179086602 179086602 single base substitution C T missense_variant V425M 1273G>A UCEC-US 1 179087736 179087736 single base substitution C A exon_variant UCEC-US 1 179087736 179087736 single base substitution C A missense_variant K367N 1101G>T UCEC-US 1 179087736 179087736 single base substitution C A missense_variant K382N 1146G>T UCEC-US 1 179087736 179087736 single base substitution C A missense_variant K388N 1164G>T UCEC-US 1 179087736 179087736 single base substitution C A missense_variant K403N 1209G>T UCEC-US 1 179087824 179087824 single base substitution C G exon_variant UCEC-US 1 179087824 179087824 single base substitution C G missense_variant R338P 1013G>C UCEC-US 1 179087824 179087824 single base substitution C G missense_variant R353P 1058G>C UCEC-US 1 179087824 179087824 single base substitution C G missense_variant R359P 1076G>C UCEC-US 1 179087824 179087824 single base substitution C G missense_variant R374P 1121G>C UCEC-US 1 179087847 179087847 single base substitution G A exon_variant UCEC-US 1 179087847 179087847 single base substitution G A synonymous_variant Y330Y 990C>T UCEC-US 1 179087847 179087847 single base substitution G A synonymous_variant Y345Y 1035C>T UCEC-US 1 179087847 179087847 single base substitution G A synonymous_variant Y351Y 1053C>T UCEC-US 1 179087847 179087847 single base substitution G A synonymous_variant Y366Y 1098C>T UCEC-US 1 179090831 179090831 single base substitution C A exon_variant UCEC-US 1 179090831 179090831 single base substitution C A missense_variant D251Y 751G>T UCEC-US 1 179090831 179090831 single base substitution C A missense_variant D266Y 796G>T UCEC-US 1 179090831 179090831 single base substitution C A missense_variant D272Y 814G>T UCEC-US 1 179090831 179090831 single base substitution C A missense_variant D287Y 859G>T UCEC-US 1 179090839 179090839 single base substitution T C exon_variant UCEC-US 1 179090839 179090839 single base substitution T C missense_variant E248G 743A>G UCEC-US 1 179090839 179090839 single base substitution T C missense_variant E263G 788A>G UCEC-US 1 179090839 179090839 single base substitution T C missense_variant E269G 806A>G UCEC-US 1 179090839 179090839 single base substitution T C missense_variant E284G 851A>G UCEC-US 1 179095529 179095529 single base substitution T G downstream_gene_variant UCEC-US 1 179095529 179095529 single base substitution T G exon_variant UCEC-US 1 179095529 179095529 single base substitution T G missense_variant T188P 562A>C UCEC-US 1 179095529 179095529 single base substitution T G missense_variant T203P 607A>C UCEC-US 1 179095529 179095529 single base substitution T G missense_variant T209P 625A>C UCEC-US 1 179095529 179095529 single base substitution T G missense_variant T224P 670A>C UCEC-US 1 179095654 179095654 single base substitution G A downstream_gene_variant UCEC-US 1 179095654 179095654 single base substitution G A exon_variant UCEC-US 1 179095654 179095654 single base substitution G A missense_variant A146V 437C>T UCEC-US 1 179095654 179095654 single base substitution G A missense_variant A161V 482C>T UCEC-US 1 179095654 179095654 single base substitution G A missense_variant A167V 500C>T UCEC-US 1 179095654 179095654 single base substitution G A missense_variant A182V 545C>T UCEC-US 1 179100501 179100501 single base substitution G A exon_variant UCEC-US 1 179100501 179100501 single base substitution G A synonymous_variant F112F 336C>T UCEC-US 1 179100501 179100501 single base substitution G A synonymous_variant F76F 228C>T UCEC-US 1 179100501 179100501 single base substitution G A synonymous_variant F91F 273C>T UCEC-US 1 179100501 179100501 single base substitution G A synonymous_variant F97F 291C>T UCEC-US 1 179100575 179100575 single base substitution C T exon_variant UCEC-US 1 179100575 179100575 single base substitution C T missense_variant A52T 154G>A UCEC-US 1 179100575 179100575 single base substitution C T missense_variant A67T 199G>A UCEC-US 1 179100575 179100575 single base substitution C T missense_variant A73T 217G>A UCEC-US 1 179100575 179100575 single base substitution C T missense_variant A88T 262G>A UCEC-US 1 179102510 179102510 single base substitution C A intron_variant UCEC-US 1 179102510 179102510 single base substitution C A splice_acceptor_variant UCEC-US 1 179112088 179112088 single base substitution G A exon_variant UCEC-US 1 179112088 179112088 single base substitution G A intron_variant UCEC-US 1 179112088 179112088 single base substitution G A missense_variant S31F 92C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0UV-01 COSM1583753 c.158-1G>T p.? Unknown 1:179133375-179133375 - 8031121 COSM3385463 c.579+1G>A p.? Unknown 1:179126376-179126376 - T3090 COSM4658551 c.2160_2161insG p.S721fs*9 Insertion - Frameshift 1:179109106-179109107 - TCGA-18-3414-01 COSM1146061 c.1943G>T p.R648M Substitution - Missense 1:179109324-179109324 - pfg068T COSM4763705 c.1083G>T p.M361I Substitution - Missense 1:179118619-179118619 - HCC150 COSM3705275 c.2410A>T p.N804Y Substitution - Missense 1:179108857-179108857 - SH-9248 COSM5020940 c.2516A>G p.E839G Substitution - Missense 1:179108751-179108751 - TCGA-IZ-A6M8-01 COSM3984507 c.3325C>A p.L1109I Substitution - Missense 1:179107834-179107834 - 3N44-VS-3T44 COSM4982141 c.225C>G p.L75L Substitution - coding silent 1:179131369-179131369 - TCGA-EE-A2M8-06 COSM900224 c.228C>T p.F76F Substitution - coding silent 1:179131366-179131366 - TCGA-GF-A4EO-06 COSM3479195 c.1253C>T p.P418L Substitution - Missense 1:179117379-179117379 - 2492701 COSM5599009 c.1119C>A p.L373L Substitution - coding silent 1:179118691-179118691 - TCGA-AA-3510-01 COSM1336676 c.271G>T p.E91* Substitution - Nonsense 1:179131431-179131431 - S04-45633-TP COSM4990512 c.2519C>T p.P840L Substitution - Missense 1:179108640-179108640 - TCGA-AX-A1C8-01 COSM900205 c.2705C>A p.T902N Substitution - Missense 1:179108454-179108454 - 2492703 COSM5599012 c.1011C>A p.L337L Substitution - coding silent 1:179118691-179118691 - H650 COSM1194266 c.1299G>C p.W433C Substitution - Missense 1:179117333-179117333 - 13681 COSM5613834 c.2204G>C p.G735A Substitution - Missense 1:179109063-179109063 - ESO-184 COSM1244035 c.1939G>A p.D647N Substitution - Missense 1:179109328-179109328 - 6115227 COSM5551861 c.680A>G p.D227G Substitution - Missense 1:179126384-179126384 - HCC153T COSM5823286 c.132T>G p.Y44* Substitution - Nonsense 1:179131462-179131462 - B105-0 COSM1747975 c.521C>T p.S174L Substitution - Missense 1:179126435-179126435 - TCGA-BR-8589-01 COSM4025569 c.996A>C p.E332D Substitution - Missense 1:179120239-179120239 - TCGA-32-2491-01 COSM1195526 c.1219G>A p.A407T Substitution - Missense 1:179117413-179117413 - T3724 COSM2095124 c.1894C>T p.R632C Substitution - Missense 1:179109265-179109265 - TCGA-BH-A18P-01 COSM424695 c.315G>A p.Q105Q Substitution - coding silent 1:179126641-179126641 - TCGA-E2-A1LG-01 COSM1473061 c.1363G>C p.E455Q Substitution - Missense 1:179117377-179117377 - 631056 COSM324616 c.1669G>T p.E557* Substitution - Nonsense 1:179110330-179110330 - TCGA-AA-3663-01 COSM1336664 c.887delG p.G296fs*21 Deletion - Frameshift 1:179121668-179121668 - CSCC-49-T COSM4536730 c.2339G>A p.R780K Substitution - Missense 1:179108928-179108928 - CSCC-54-T COSM4565686 c.2400_2401CC>TT p.L801F Substitution - Missense 1:179108866-179108867 - ESCC_47 COSM5630667 c.626T>G p.V209G Substitution - Missense 1:179121821-179121821 - ME029T COSM226477 c.724C>T p.H242Y Substitution - Missense 1:179121723-179121723 - B15-Tumor COSM3802996 c.1462T>G p.W488G Substitution - Missense 1:179112390-179112390 - TARGET-30-PANYGR-01A-01W COSM1283198 c.2878C>G p.P960A Substitution - Missense 1:179108281-179108281 - PT42 COSM5924781 c.1652-1G>A p.? Unknown 1:179110456-179110456 - 587316 COSM1181447 c.1402G>A p.V468I Substitution - Missense 1:179117338-179117338 - SCC-9 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - TCGA-AP-A0LM-01 COSM1583765 c.859G>T p.D287Y Substitution - Missense 1:179121696-179121696 - P04-1790 COSM242755 c.895G>A p.V299I Substitution - Missense 1:179120232-179120232 - 2492722 COSM5719419 c.3155C>T p.S1052F Substitution - Missense 1:179108112-179108112 - S00935 COSM308790 c.2783A>T p.H928L Substitution - Missense 1:179108376-179108376 - RKO COSM2095020 c.2957delC p.P986fs*4 Deletion - Frameshift 1:179108310-179108310 - T55 COSM4658554 c.1952delG p.G651fs*7 Deletion - Frameshift 1:179109315-179109315 - ESCC_42 COSM5629651 c.1375T>A p.Y459N Substitution - Missense 1:179114956-179114956 - 2492703 COSM5599009 c.1119C>A p.L373L Substitution - coding silent 1:179118691-179118691 - PD4107a COSM158829 c.2396A>C p.K799T Substitution - Missense 1:179108763-179108763 - S01023 COSM5666289 c.971T>G p.M324R Substitution - Missense 1:179120264-179120264 - SH-5693 COSM5020430 c.831A>G p.T277T Substitution - coding silent 1:179121616-179121616 - CAL33 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - 2492708 COSM5716954 c.3129C>T p.I1043I Substitution - coding silent 1:179108030-179108030 - HCC150T COSM3705277 c.2302A>T p.N768Y Substitution - Missense 1:179108857-179108857 - TCGA-CM-6162-01 COSM1336643 c.2190C>T p.D730D Substitution - coding silent 1:179109077-179109077 - S06-38853-TP COSM4990497 c.3018T>G p.P1006P Substitution - coding silent 1:179108141-179108141 - DN12101 COSM5800375 c.2990G>A p.S997N Substitution - Missense 1:179108169-179108169 - TCGA-A2-A04W-01 COSM1473067 c.679G>T p.D227Y Substitution - Missense 1:179126385-179126385 - TCGA-BJ-A3EZ-01 COSM3369425 c.840G>A p.V280V Substitution - coding silent 1:179121607-179121607 - PT52 COSM5938552 c.232C>T p.R78C Substitution - Missense 1:179131470-179131470 - 2492710 COSM5716954 c.3129C>T p.I1043I Substitution - coding silent 1:179108030-179108030 - UPCI:SCC090 COSM4592347 c.2690C>G p.A897G Substitution - Missense 1:179108577-179108577 - TCGA-A8-A0A6-01 COSM3802996 c.1462T>G p.W488G Substitution - Missense 1:179112390-179112390 - S48_pre COSM5574369 c.894G>T p.Q298H Substitution - Missense 1:179121661-179121661 - TCGA-AP-A0LE-01 COSM900215 c.1165G>A p.V389M Substitution - Missense 1:179117467-179117467 - S06-38853-TP COSM4990507 c.2767C>T p.L923F Substitution - Missense 1:179108500-179108500 - T3091 COSM4658557 c.1893A>G p.S631S Substitution - coding silent 1:179109374-179109374 - TCGA-AA-3510-01 COSM1336678 c.163G>T p.E55* Substitution - Nonsense 1:179131431-179131431 - TCGA-FD-A3SL-01 COSM3789155 c.2800C>T p.L934F Substitution - Missense 1:179108467-179108467 - B15-Tumor COSM3802993 c.1570T>G p.W524G Substitution - Missense 1:179112390-179112390 - Pat_34_A COSM5844638 c.2671C>A p.H891N Substitution - Missense 1:179108488-179108488 - WSU-HN12 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - ESCC_BICR_029T COSM5443454 c.403delC p.R135fs*31 Deletion - Frameshift 1:179126661-179126661 - TCGA-AP-A0LM-01 COSM900219 c.751G>T p.D251Y Substitution - Missense 1:179121696-179121696 - TCGA-D1-A17Q-01 COSM1583769 c.1412T>G p.F471C Substitution - Missense 1:179115027-179115027 - TCGA-AX-A1C8-01 COSM1151918 c.2813C>A p.T938N Substitution - Missense 1:179108454-179108454 - RK010_C COSM1626654 c.1422C>T p.C474C Substitution - coding silent 1:179114909-179114909 - TCGA-GN-A26C-01 COSM3479184 c.1703C>T p.S568F Substitution - Missense 1:179110296-179110296 - TCGA-AD-6895-01 COSM1336660 c.860C>T p.T287I Substitution - Missense 1:179120267-179120267 - TCGA-D1-A17Q-01 COSM900208 c.2458G>T p.G820* Substitution - Nonsense 1:179108701-179108701 - B80-Tumor COSM1747970 c.2244C>T p.I748I Substitution - coding silent 1:179109023-179109023 - T3091 COSM4658559 c.1785A>G p.S595S Substitution - coding silent 1:179109374-179109374 - S00838 COSM5661340 c.578A>T p.K193M Substitution - Missense 1:179126378-179126378 - PD6568a COSM3719802 c.1341delT p.P448fs*51 Deletion - Frameshift 1:179117399-179117399 - TCGA-AP-A0LE-01 COSM1151922 c.1273G>A p.V425M Substitution - Missense 1:179117467-179117467 - I2L-P19Ta-Tumor-Biopsy COSM5352433 c.2052delG p.S685fs*36 Deletion - Frameshift 1:179109107-179109107 - CN-AML-08-T COSM5425713 c.3291C>T p.S1097S Substitution - coding silent 1:179107976-179107976 - TCGA-CD-8536-01 COSM4025564 c.1308A>G p.G436G Substitution - coding silent 1:179117432-179117432 - S06-38853-TP COSM1146065 c.1120C>T p.R374* Substitution - Nonsense 1:179118690-179118690 - 2492709 COSM5716954 c.3129C>T p.I1043I Substitution - coding silent 1:179108030-179108030 - 304_T COSM3976611 c.679G>C p.A227P Substitution - Missense 1:179121768-179121768 - TCGA-EI-6917-01 COSM3418409 c.1474G>A p.D492N Substitution - Missense 1:179112378-179112378 - TCGA-CJ-4884-01 COSM3360516 c.229G>T p.V77F Substitution - Missense 1:179131365-179131365 - TCGA-AP-A056-01 COSM900224 c.228C>T p.F76F Substitution - coding silent 1:179131366-179131366 - TCGA-AA-3966-01 COSM272297 c.2748C>T p.D916D Substitution - coding silent 1:179108411-179108411 - T3724 COSM4658568 c.600T>C p.S200S Substitution - coding silent 1:179126464-179126464 - S00838 COSM5661337 c.686A>T p.K229M Substitution - Missense 1:179126378-179126378 - TCGA-EE-A2A0-06 COSM3479199 c.1015G>A p.E339K Substitution - Missense 1:179118687-179118687 - sysucc-882T COSM5446975 c.1024C>T p.R342* Substitution - Nonsense 1:179118678-179118678 - TCGA-AD-6895-01 COSM1336658 c.968C>T p.T323I Substitution - Missense 1:179120267-179120267 - RK010_C01 COSM1626654 c.1422C>T p.C474C Substitution - coding silent 1:179114909-179114909 - 11M COSM4990513 c.2013C>T p.S671S Substitution - coding silent 1:179109254-179109254 - TCGA-EE-A2A0-06 COSM3479196 c.1123G>A p.E375K Substitution - Missense 1:179118687-179118687 - T55 COSM4658556 c.1844delG p.G615fs*7 Deletion - Frameshift 1:179109315-179109315 - CN-AML-08-T COSM5425715 c.3183C>T p.S1061S Substitution - coding silent 1:179107976-179107976 - TCGA-EK-A2H0-01 COSM4819065 c.2891C>G p.S964* Substitution - Nonsense 1:179108268-179108268 - TCGA-D1-A15X-01 COSM1583763 c.851A>G p.E284G Substitution - Missense 1:179121704-179121704 - TCGA-EE-A2M8-06 COSM1583757 c.336C>T p.F112F Substitution - coding silent 1:179131366-179131366 - T3262 COSM20641 c.1427delC p.P476fs*7 Deletion - Frameshift 1:179114909-179114909 - OSCC-GB_01210111 COSM1639633 c.1399C>T p.R467* Substitution - Nonsense 1:179114932-179114932 - PTC-1C COSM4143069 c.15G>C p.V5V Substitution - coding silent 1:179229383-179229383 - TCGA-F5-6814-01 COSM3418410 c.605G>A p.S202N Substitution - Missense 1:179126459-179126459 - WSU-HN6 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - TCGA-06-0939-01 COSM3747814 c.650A>G p.D217G Substitution - Missense 1:179121797-179121797 - CHC2111T COSM5352387 c.1324_1325ins13 p.H442fs*5 Insertion - Frameshift 1:179117415-179117416 - TCGA-32-5222-01 COSM1626652 c.1530C>T p.C510C Substitution - coding silent 1:179114909-179114909 - ESCC_37 COSM5649699 c.1949C>T p.T650M Substitution - Missense 1:179109210-179109210 - TCGA-D1-A17Q-01 COSM1583777 c.2000A>G p.K667R Substitution - Missense 1:179109267-179109267 - TCGA-EE-A2MR-06 COSM3479200 c.585C>T p.F195F Substitution - coding silent 1:179126479-179126479 - SNUH_G16_S1 COSM3997091 c.543G>T p.V181V Substitution - coding silent 1:179126413-179126413 - TCGA-B0-5098-01 COSM1491869 c.734T>C p.V245A Substitution - Missense 1:179121821-179121821 - 2011-2305:2012-313-T COSM4604991 c.2834A>G p.D945G Substitution - Missense 1:179108433-179108433 - DM10 COSM5607722 c.419G>T p.G140V Substitution - Missense 1:179126537-179126537 - TCGA-EE-A2MF-06 COSM4892727 c.3042C>T p.S1014S Substitution - coding silent 1:179108225-179108225 - 2492722 COSM5719421 c.3047C>T p.S1016F Substitution - Missense 1:179108112-179108112 - HCC1395 COSM50270 c.2149A>G p.T717A Substitution - Missense 1:179109010-179109010 - PT35 COSM5911188 c.1589C>T p.P530L Substitution - Missense 1:179112371-179112371 - PT23_1 COSM4464617 c.1234C>T p.P412S Substitution - Missense 1:179117398-179117398 - PD0119a COSM594 c.187G>C p.E63Q Substitution - Missense 1:179131407-179131407 - A3 COSM5350010 c.3386A>C p.Q1129P Substitution - Missense 1:179107881-179107881 - SCC-25 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - T3090 COSM4658553 c.2052_2053insG p.S685fs*9 Insertion - Frameshift 1:179109106-179109107 - TCGA-IH-A3EA-01 COSM3479181 c.1964C>T p.S655F Substitution - Missense 1:179109195-179109195 - 1466781 COSM5702542 c.1045G>T p.V349L Substitution - Missense 1:179118657-179118657 - HCT15 COSM2095019 c.2874G>T p.Q958H Substitution - Missense 1:179108285-179108285 - CRC-06T COSM5456203 c.539G>A p.R180H Substitution - Missense 1:179126525-179126525 - B80-Tumor COSM1747972 c.2136C>T p.I712I Substitution - coding silent 1:179109023-179109023 - TCGA-D8-A1JD-01 COSM1473066 c.622C>T p.L208F Substitution - Missense 1:179121825-179121825 - SH-9161 COSM5020866 c.3293G>A p.S1098N Substitution - Missense 1:179107974-179107974 - TCGA-D1-A17Q-01 COSM900214 c.1304T>G p.F435C Substitution - Missense 1:179115027-179115027 - Pat_53_B COSM5844641 c.1890delC p.K631fs*90 Deletion - Frameshift 1:179109269-179109269 - PT52 COSM5938555 c.124C>T p.R42C Substitution - Missense 1:179131470-179131470 - TCGA-18-3409-01 COSM677876 c.1012C>T p.R338* Substitution - Nonsense 1:179118690-179118690 - 2492721 COSM5719421 c.3047C>T p.S1016F Substitution - Missense 1:179108112-179108112 - CN-AML-NR-08-Dx COSM5425715 c.3183C>T p.S1061S Substitution - coding silent 1:179107976-179107976 - CSCC-49-T COSM158828 c.1025G>A p.R342Q Substitution - Missense 1:179118677-179118677 - TCGA-DH-A66B-01 COSM3966063 c.1430A>T p.E477V Substitution - Missense 1:179115009-179115009 - TCGA-AA-3663-01 COSM1336666 c.779delG p.G260fs*21 Deletion - Frameshift 1:179121668-179121668 - S01297 COSM5667314 c.3150A>G p.T1050T Substitution - coding silent 1:179108117-179108117 - S00944 COSM5701698 c.2239_2240GG>TT p.G747F Substitution - Missense 1:179109027-179109028 - WSU-HN8 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - TCGA-D8-A1JD-01 COSM1473064 c.730C>T p.L244F Substitution - Missense 1:179121825-179121825 - TCGA-AM-5821-01 COSM3750644 c.1386A>C p.L462L Substitution - coding silent 1:179114945-179114945 - 2492709 COSM5716952 c.3237C>T p.I1079I Substitution - coding silent 1:179108030-179108030 - TCGA-AD-6895-01 COSM1336646 c.1586G>T p.R529M Substitution - Missense 1:179112374-179112374 - PDA_009 COSM4998358 c.1954A>G p.N652D Substitution - Missense 1:179109205-179109205 - 587228 COSM1181446 c.1631G>A p.R544Q Substitution - Missense 1:179110368-179110368 - B105-0 COSM1747973 c.629C>T p.S210L Substitution - Missense 1:179126435-179126435 - 2492701 COSM5599012 c.1011C>A p.L337L Substitution - coding silent 1:179118691-179118691 - 8035740 COSM3385455 c.2316C>T p.S772S Substitution - coding silent 1:179108843-179108843 - TCGA-BH-A18P-01 COSM1473069 c.423G>A p.Q141Q Substitution - coding silent 1:179126641-179126641 - TCGA-60-2725-01 COSM1146055 c.2632G>T p.G878W Substitution - Missense 1:179108635-179108635 - 2011-2368:2012-1297-T COSM4604988 c.2713C>G p.H905D Substitution - Missense 1:179108446-179108446 - PT48 COSM5930402 c.3152C>T p.S1051F Substitution - Missense 1:179108115-179108115 - PD4953a COSM5771584 c.1610C>G p.P537R Substitution - Missense 1:179110389-179110389 - TCGA-AP-A059-01 COSM1583783 c.2597C>A p.S866Y Substitution - Missense 1:179108670-179108670 - TCGA-32-1991-01 COSM3400038 c.2625G>A p.P875P Substitution - coding silent 1:179108534-179108534 - TCGA-EI-6917-01 COSM900209 c.2169G>T p.K723N Substitution - Missense 1:179108990-179108990 - TCGA-AA-3693-01 COSM268289 c.1987G>A p.D663N Substitution - Missense 1:179109172-179109172 - B80 COSM1747970 c.2244C>T p.I748I Substitution - coding silent 1:179109023-179109023 - T2940 COSM1583771 c.1677C>T p.A559A Substitution - coding silent 1:179110430-179110430 - TCGA-AP-A056-01 COSM1583757 c.336C>T p.F112F Substitution - coding silent 1:179131366-179131366 - DM36 COSM352858 c.2005C>T p.P669S Substitution - Missense 1:179109154-179109154 - TCGA-FW-A3R5-06 COSM3863704 c.3297C>T p.A1099A Substitution - coding silent 1:179107862-179107862 - TCGA-AD-5900-01 COSM252947 c.2400delA p.K800fs*34 Deletion - Frameshift 1:179108759-179108759 - sysucc-1370T COSM5469787 c.1267G>A p.V423I Substitution - Missense 1:179117473-179117473 - TCGA-DH-A66B-01 COSM3966066 c.1322A>T p.E441V Substitution - Missense 1:179115009-179115009 - 2492702 COSM5599009 c.1119C>A p.L373L Substitution - coding silent 1:179118691-179118691 - TCGA-A6-6781-01 COSM1336635 c.3373G>A p.G1125R Substitution - Missense 1:179107786-179107786 - TCGA-BR-6707-01 COSM4025557 c.2584C>T p.R862* Substitution - Nonsense 1:179108575-179108575 - 1N25-VS-1T25 COSM4973330 c.2311A>C p.S771R Substitution - Missense 1:179108956-179108956 - CDGLIV0704A0200_T COSM5041951 c.3361G>A p.A1121T Substitution - Missense 1:179107798-179107798 - PT33 COSM3479173 c.2374C>T p.P792S Substitution - Missense 1:179108893-179108893 - S02139 COSM5673919 c.597A>C p.E199D Substitution - Missense 1:179126467-179126467 - TCGA-HJ-7597-01 COSM4025560 c.2195C>T p.P732L Substitution - Missense 1:179108964-179108964 - TCGA-IZ-A6M8-01 COSM3984505 c.3433C>A p.L1145I Substitution - Missense 1:179107834-179107834 - PD0880a COSM20641 c.1427delC p.P476fs*7 Deletion - Frameshift 1:179114909-179114909 - CHC2111T COSM4957772 c.1324C>T p.H442Y Substitution - Missense 1:179117416-179117416 - TCGA-B5-A0JY-01 COSM900225 c.154G>A p.A52T Substitution - Missense 1:179131440-179131440 - TCGA-AD-6895-01 COSM1336648 c.1478G>T p.R493M Substitution - Missense 1:179112374-179112374 - TCGA-D1-A17Q-01 COSM900210 c.1892A>G p.K631R Substitution - Missense 1:179109267-179109267 - DM29 COSM5607729 c.2608G>A p.E870K Substitution - Missense 1:179108551-179108551 - TCGA-32-2491-01 COSM1195524 c.1327G>A p.A443T Substitution - Missense 1:179117413-179117413 - TCGA-B0-5098-01 COSM1491871 c.626T>C p.V209A Substitution - Missense 1:179121821-179121821 - ESO-191 COSM1244040 c.739A>C p.M247L Substitution - Missense 1:179121708-179121708 - HCT116 COSM2095157 c.1374C>T p.V458V Substitution - coding silent 1:179114957-179114957 - 8061185 COSM3385459 c.1417G>C p.G473R Substitution - Missense 1:179114914-179114914 - B105-0-Tumor COSM1747973 c.629C>T p.S210L Substitution - Missense 1:179126435-179126435 - CPCG0103-P1 COSM3396137 c.620A>G p.E207G Substitution - Missense 1:179121827-179121827 - SNUH_G16_S1 COSM3677466 c.3146G>A p.S1049N Substitution - Missense 1:179108013-179108013 - SW48 COSM2095187 c.926T>C p.V309A Substitution - Missense 1:179120201-179120201 - TCGA-CM-6674-01 COSM1336636 c.3203C>T p.A1068V Substitution - Missense 1:179108064-179108064 - CN-AML-NR-08-Dx COSM5425713 c.3291C>T p.S1097S Substitution - coding silent 1:179107976-179107976 - TCGA-A6-6780-01 COSM1336679 c.255A>G p.E85E Substitution - coding silent 1:179131447-179131447 - TCGA-EE-A2MJ-06 COSM3479178 c.2216C>T p.S739F Substitution - Missense 1:179108943-179108943 - LUAD-5V8LT COSM400910 c.1681G>T p.D561Y Substitution - Missense 1:179110318-179110318 - SNUH_G76_S1 COSM3750644 c.1386A>C p.L462L Substitution - coding silent 1:179114945-179114945 - PD3856a COSM158828 c.1025G>A p.R342Q Substitution - Missense 1:179118677-179118677 - S00829 COSM5659823 c.1053C>G p.L351L Substitution - coding silent 1:179118649-179118649 - ESO16T COSM1172070 c.320G>A p.G107D Substitution - Missense 1:179126636-179126636 - S01297 COSM5667316 c.3042A>G p.T1014T Substitution - coding silent 1:179108117-179108117 - CDGLIV0704A0200_T COSM5041949 c.3469G>A p.A1157T Substitution - Missense 1:179107798-179107798 - HN_63114 COSM120826 c.2459G>A p.G820E Substitution - Missense 1:179108700-179108700 - TCGA-EE-A2MJ-06 COSM3479176 c.2324C>T p.S775F Substitution - Missense 1:179108943-179108943 - TCGA-BH-A0HL-01 COSM424692 c.1727G>A p.R576K Substitution - Missense 1:179109432-179109432 - 100843 COSM95747 c.927A>G p.V309V Substitution - coding silent 1:179120200-179120200 - sysucc-1370T COSM5469784 c.1952G>C p.G651A Substitution - Missense 1:179109315-179109315 - S00-35182-TP COSM4990501 c.2926C>T p.R976* Substitution - Nonsense 1:179108341-179108341 - TCGA-BK-A0C9-01 COSM900217 c.1013G>C p.R338P Substitution - Missense 1:179118689-179118689 - TCGA-EE-A2MR-06 COSM3479203 c.477C>T p.F159F Substitution - coding silent 1:179126479-179126479 - TCGA-CD-8536-01 COSM4025567 c.1200A>G p.G400G Substitution - coding silent 1:179117432-179117432 - CSCC-54-T COSM4565688 c.2292_2293CC>TT p.L765F Substitution - Missense 1:179108866-179108867 - T3724 COSM2095122 c.2002C>T p.R668C Substitution - Missense 1:179109265-179109265 - UM-SCC-47 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - TCGA-B5-A0JY-01 COSM900201 c.3322G>A p.E1108K Substitution - Missense 1:179107837-179107837 - TCGA-D1-A17Q-01 COSM1583781 c.2566G>T p.G856* Substitution - Nonsense 1:179108701-179108701 - YUOTHO COSM5378635 c.987C>T p.F329F Substitution - coding silent 1:179120248-179120248 - PD1352a COSM21253 c.2371delG p.D791fs*43 Deletion - Frameshift 1:179108788-179108788 - TCGA-EE-A2MF-06 COSM4892729 c.2934C>T p.S978S Substitution - coding silent 1:179108225-179108225 - TCGA-D1-A15X-01 COSM900221 c.743A>G p.E248G Substitution - Missense 1:179121704-179121704 - NB-1931 COSM1283196 c.2986C>G p.P996A Substitution - Missense 1:179108281-179108281 - HCC086T COSM5813070 c.1863A>T p.P621P Substitution - coding silent 1:179109404-179109404 - 3N44-VS-3T44 COSM4982138 c.333C>G p.L111L Substitution - coding silent 1:179131369-179131369 - TCGA-BR-6707-01 COSM4025555 c.2692C>T p.R898* Substitution - Nonsense 1:179108575-179108575 - TCGA-EM-A2OX-01 COSM3369427 c.39T>C p.Y13Y Substitution - coding silent 1:179143006-179143006 - TCGA-ER-A19G-06 COSM3479207 c.327G>A p.W109* Substitution - Nonsense 1:179126629-179126629 - 92 COSM5014169 c.1759C>G p.L587V Substitution - Missense 1:179109400-179109400 - M031 COSM1738405 c.3164C>G p.P1055R Substitution - Missense 1:179108103-179108103 - PDA_096 COSM5003298 c.2728G>A p.V910M Substitution - Missense 1:179108431-179108431 - SCC-25 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - DM51 COSM5607738 c.3274C>T p.P1092S Substitution - Missense 1:179107885-179107885 - SNUH_G16_S1 COSM3997088 c.651G>T p.V217V Substitution - coding silent 1:179126413-179126413 - 103937 COSM93847 c.200G>A p.G67E Substitution - Missense 1:179131394-179131394 - TCGA-BS-A0UF-01 COSM900216 c.1101G>T p.K367N Substitution - Missense 1:179118601-179118601 - LUAD-E00934 COSM393433 c.1673G>T p.G558V Substitution - Missense 1:179110326-179110326 - EGC15 COSM5052840 c.1488delT p.F496fs*21 Deletion - Frameshift 1:179112364-179112364 - TCGA-BR-8487-01 COSM4025549 c.3190G>T p.G1064C Substitution - Missense 1:179108077-179108077 - PD4107a COSM158829 c.2396A>C p.K799T Substitution - Missense 1:179108763-179108763 - TCGA-AA-A00N-01 COSM273837 c.1942G>A p.E648K Substitution - Missense 1:179109217-179109217 - ESCC_37 COSM5649697 c.2057C>T p.T686M Substitution - Missense 1:179109210-179109210 - TCGA-AP-A0LM-01 COSM1583761 c.670A>C p.T224P Substitution - Missense 1:179126394-179126394 - UPCI:SCC090 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - TCGA-BR-8589-01 COSM4025577 c.551A>G p.E184G Substitution - Missense 1:179126513-179126513 - CAL27 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - 587316 COSM1181449 c.1294G>A p.V432I Substitution - Missense 1:179117338-179117338 - T55 COSM4658564 c.888C>T p.G296G Substitution - coding silent 1:179121667-179121667 - TCGA-AP-A056-01 COSM900204 c.2965G>A p.A989T Substitution - Missense 1:179108194-179108194 - TCGA-A6-6780-01 COSM1336670 c.500G>A p.S167N Substitution - Missense 1:179126564-179126564 - TCGA-CG-5723-01 COSM2095094 c.2155C>T p.R719C Substitution - Missense 1:179109004-179109004 - C037 COSM5524311 c.1638C>T p.S546S Substitution - coding silent 1:179112322-179112322 - YUKAT COSM5378634 c.992G>A p.G331E Substitution - Missense 1:179118710-179118710 - TCGA-D1-A17A-01 COSM900218 c.990C>T p.Y330Y Substitution - coding silent 1:179118712-179118712 - TCGA-GN-A26C-01 COSM3479182 c.1811C>T p.S604F Substitution - Missense 1:179110296-179110296 - SH-9161 COSM5020868 c.3185G>A p.S1062N Substitution - Missense 1:179107974-179107974 - LUAD-S01413 COSM347157 c.161A>T p.H54L Substitution - Missense 1:179133371-179133371 - 1N25-VS-1T25 COSM4973335 c.1995C>A p.F665L Substitution - Missense 1:179109164-179109164 - ESCC_47 COSM5630664 c.734T>G p.V245G Substitution - Missense 1:179121821-179121821 - TCGA-EE-A2MD-06 COSM3479188 c.1455A>G p.P485P Substitution - coding silent 1:179114984-179114984 - OSCC-GB_01090111 COSM4886450 c.808G>T p.V270F Substitution - Missense 1:179121639-179121639 - PD4107a COSM158829 c.2396A>C p.K799T Substitution - Missense 1:179108763-179108763 - TCGA-29-1769-01 COSM1320705 c.3441G>A p.L1147L Substitution - coding silent 1:179107826-179107826 - TCGA-AZ-4315-01 COSM1336663 c.821A>G p.Y274C Substitution - Missense 1:179121626-179121626 - CPCG0103-P2 COSM3396137 c.620A>G p.E207G Substitution - Missense 1:179121827-179121827 - TCGA-60-2721-01 COSM677875 c.788A>G p.Y263C Substitution - Missense 1:179121659-179121659 - TCGA-CA-6718-01 COSM1336657 c.993G>A p.G331G Substitution - coding silent 1:179118709-179118709 - TCGA-BH-A0HL-01 COSM1473059 c.1835G>A p.R612K Substitution - Missense 1:179109432-179109432 - TCGA-AX-A0J0-01 COSM1583775 c.1979G>T p.R660I Substitution - Missense 1:179109288-179109288 - CHC2111T COSM4957775 c.1216C>T p.H406Y Substitution - Missense 1:179117416-179117416 - TCGA-06-0939-01 COSM3747811 c.758A>G p.D253G Substitution - Missense 1:179121797-179121797 - TCGA-13-1494-01 COSM69497 c.568G>A p.A190T Substitution - Missense 1:179126388-179126388 - TCGA-BK-A0C9-01 COSM1151924 c.1121G>C p.R374P Substitution - Missense 1:179118689-179118689 - H1155 COSM1195524 c.1327G>A p.A443T Substitution - Missense 1:179117413-179117413 - TCGA-AD-5900-01 COSM1336639 c.2508delA p.K836fs*34 Deletion - Frameshift 1:179108759-179108759 - TCGA-AM-5821-01 COSM3689165 c.1952G>A p.G651D Substitution - Missense 1:179109315-179109315 - Au2 COSM5599009 c.1119C>A p.L373L Substitution - coding silent 1:179118691-179118691 - DM79 COSM5607742 c.2538G>A p.E846E Substitution - coding silent 1:179108729-179108729 - DN15001 COSM1151928 c.853C>T p.R285* Substitution - Nonsense 1:179121702-179121702 - TCGA-B5-A0JT-01 COSM900202 c.3265G>T p.D1089Y Substitution - Missense 1:179107894-179107894 - S06-38853-TP COSM4990509 c.2659C>T p.L887F Substitution - Missense 1:179108500-179108500 - TCGA-39-5029-01 COSM677877 c.1393G>T p.G465* Substitution - Nonsense 1:179114938-179114938 - sysucc-882T COSM5446972 c.1132C>T p.R378* Substitution - Nonsense 1:179118678-179118678 - TCGA-CM-6674-01 COSM1336638 c.3095C>T p.A1032V Substitution - Missense 1:179108064-179108064 - 2492720 COSM5719421 c.3047C>T p.S1016F Substitution - Missense 1:179108112-179108112 - 61 COSM5735746 c.68G>C p.R23P Substitution - Missense 1:179229330-179229330 - CSCC-29-T COSM4464617 c.1234C>T p.P412S Substitution - Missense 1:179117398-179117398 - DM51 COSM5607741 c.2605C>T p.P869S Substitution - Missense 1:179108554-179108554 - BICR_22 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - TCGA-CA-6717-01 COSM1336630 c.3487A>G p.N1163D Substitution - Missense 1:179107780-179107780 - TCGA-EE-A3AA-06 COSM3479185 c.1460C>T p.P487L Substitution - Missense 1:179114979-179114979 - TCGA-A2-A0YG-01 COSM1133891 c.1797A>T p.T599T Substitution - coding silent 1:179110310-179110310 - TCGA-D8-A1XQ-01 COSM1336639 c.2508delA p.K836fs*34 Deletion - Frameshift 1:179108759-179108759 - TCGA-EI-6917-01 COSM3418406 c.1582G>A p.D528N Substitution - Missense 1:179112378-179112378 - S06-38853-TP COSM677876 c.1012C>T p.R338* Substitution - Nonsense 1:179118690-179118690 - ESCC_158 COSM5646549 c.1561G>A p.G521R Substitution - Missense 1:179110438-179110438 - DM101 COSM5607726 c.958C>T p.P320S Substitution - Missense 1:179118744-179118744 - TCGA-A6-6780-01 COSM1336672 c.392G>A p.S131N Substitution - Missense 1:179126564-179126564 - OSCC-GB_01090111 COSM4886447 c.916G>T p.V306F Substitution - Missense 1:179121639-179121639 - TCGA-AP-A056-01 COSM1583779 c.2277G>T p.K759N Substitution - Missense 1:179108990-179108990 - TCGA-AX-A0J1-01 COSM1583759 c.545C>T p.A182V Substitution - Missense 1:179126519-179126519 - ESCC_BICR_029T COSM5443457 c.295delC p.R99fs*31 Deletion - Frameshift 1:179126661-179126661 - sysucc-1370T COSM5469781 c.2433G>A p.Q811Q Substitution - coding silent 1:179108834-179108834 - TCGA-HJ-7597-01 COSM4025558 c.2303C>T p.P768L Substitution - Missense 1:179108964-179108964 - HCT15 COSM2095017 c.2982G>T p.Q994H Substitution - Missense 1:179108285-179108285 - S00829 COSM5659820 c.1161C>G p.L387L Substitution - coding silent 1:179118649-179118649 - PD6568a COSM3719805 c.1233delT p.P412fs*51 Deletion - Frameshift 1:179117399-179117399 - S00936 COSM308792 c.2286A>C p.A762A Substitution - coding silent 1:179108873-179108873 - T2269 COSM4658563 c.1494A>G p.E498E Substitution - coding silent 1:179112358-179112358 - 587376 COSM1181450 c.71G>A p.G24D Substitution - Missense 1:179229327-179229327 - TCGA-BR-8487-01 COSM4025551 c.3082G>T p.G1028C Substitution - Missense 1:179108077-179108077 - 92 COSM5014167 c.1867C>G p.L623V Substitution - Missense 1:179109400-179109400 - SH-5693 COSM5020307 c.2173C>T p.L725L Substitution - coding silent 1:179108986-179108986 - YUSMI COSM5378639 c.409C>T p.L137F Substitution - Missense 1:179126655-179126655 - 13681 COSM5613836 c.2096G>C p.G699A Substitution - Missense 1:179109063-179109063 - TCGA-ER-A19G-06 COSM3479204 c.435G>A p.W145* Substitution - Nonsense 1:179126629-179126629 - PT35 COSM5911191 c.1481C>T p.P494L Substitution - Missense 1:179112371-179112371 - Pat_34_A COSM5844636 c.2779C>A p.H927N Substitution - Missense 1:179108488-179108488 - WSU-HN13 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - CSCC-38-T COSM4484402 c.2805C>T p.I935I Substitution - coding silent 1:179108462-179108462 - CAL33 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - TCGA-F5-6814-01 COSM3418413 c.497G>A p.S166N Substitution - Missense 1:179126459-179126459 - TCGA-32-1991-01 COSM3400036 c.2733G>A p.P911P Substitution - coding silent 1:179108534-179108534 - I2L-P19Ta-Tumor-Organoid COSM5352433 c.2052delG p.S685fs*36 Deletion - Frameshift 1:179109107-179109107 - TCGA-BR-4184-01 COSM4025561 c.2264G>A p.R755H Substitution - Missense 1:179109003-179109003 - TCGA-BS-A0UV-01 COSM1583791 c.3532G>T p.D1178Y Substitution - Missense 1:179107735-179107735 - S12-23181-TP COSM4990513 c.2013C>T p.S671S Substitution - coding silent 1:179109254-179109254 - HCT116 COSM2095155 c.1482C>T p.V494V Substitution - coding silent 1:179114957-179114957 - S00936 COSM308791 c.2372A>G p.D791G Substitution - Missense 1:179108787-179108787 - S04-45633-TP COSM4990510 c.2627C>T p.P876L Substitution - Missense 1:179108640-179108640 - TCGA-BS-A0UV-01 COSM900200 c.3424G>T p.D1142Y Substitution - Missense 1:179107735-179107735 - CHC2111T COSM4957772 c.1324C>T p.H442Y Substitution - Missense 1:179117416-179117416 - H650 COSM1194264 c.1407G>C p.W469C Substitution - Missense 1:179117333-179117333 - TCGA-D1-A17A-01 COSM1151926 c.1098C>T p.Y366Y Substitution - coding silent 1:179118712-179118712 - S12-23181-TP COSM4990515 c.1905C>T p.S635S Substitution - coding silent 1:179109254-179109254 - T15 COSM5618876 c.651G>A p.V217V Substitution - coding silent 1:179126413-179126413 - CHC2111T COSM4957775 c.1216C>T p.H406Y Substitution - Missense 1:179117416-179117416 - DM49 COSM5607732 c.1535C>T p.P512L Substitution - Missense 1:179114904-179114904 - DM101 COSM5607723 c.1066C>T p.P356S Substitution - Missense 1:179118744-179118744 - pfg068T COSM4763702 c.1191G>T p.M397I Substitution - Missense 1:179118619-179118619 - 113368 COSM318457 c.2090G>T p.G697V Substitution - Missense 1:179109069-179109069 - TCGA-60-2725-01 COSM677881 c.2524G>T p.G842W Substitution - Missense 1:179108635-179108635 - PD18048a COSM5800375 c.2990G>A p.S997N Substitution - Missense 1:179108169-179108169 - TCGA-ER-A42K-06 COSM4894778 c.2465C>T p.P822L Substitution - Missense 1:179108802-179108802 - TCGA-FU-A3YQ-01 COSM4823475 c.465C>T p.I155I Substitution - coding silent 1:179126491-179126491 - DN15001 COSM900220 c.745C>T p.R249* Substitution - Nonsense 1:179121702-179121702 - TCGA-D3-A2JF-06 COSM2095029 c.2903C>T p.S968F Substitution - Missense 1:179108364-179108364 - PT42 COSM5924783 c.1544-1G>A p.? Unknown 1:179110456-179110456 - S00935 COSM308790 c.2783A>T p.H928L Substitution - Missense 1:179108376-179108376 - sysucc-1370T COSM5469790 c.1159G>A p.V387I Substitution - Missense 1:179117473-179117473 - ACINAR28 COSM252947 c.2400delA p.K800fs*34 Deletion - Frameshift 1:179108759-179108759 - TCGA-BS-A0UF-01 COSM1583767 c.1209G>T p.K403N Substitution - Missense 1:179118601-179118601 - S01023 COSM5666292 c.863T>G p.M288R Substitution - Missense 1:179120264-179120264 - TCGA-18-3414-01 COSM677878 c.1835G>T p.R612M Substitution - Missense 1:179109324-179109324 - Br15X COSM39700 c.1352C>T p.P451L Substitution - Missense 1:179114979-179114979 - 2011-2305:2012-313-T COSM4604993 c.2726A>G p.D909G Substitution - Missense 1:179108433-179108433 - TCGA-ET-A2MY-01 COSM3369419 c.3133C>T p.Q1045* Substitution - Nonsense 1:179108134-179108134 - YUMOBER COSM5378630 c.1152C>T p.N384N Substitution - coding silent 1:179117480-179117480 - 86502 COSM95748 c.198C>T p.L66L Substitution - coding silent 1:179131396-179131396 - TCGA-29-1769-01 COSM1320707 c.3333G>A p.L1111L Substitution - coding silent 1:179107826-179107826 - WA27 COSM236922 c.1115+8A>C p.? Unknown 1:179118579-179118579 - TCGA-DI-A0WH-01 COSM900206 c.2608G>T p.E870* Substitution - Nonsense 1:179108551-179108551 - 2521262 COSM3479176 c.2324C>T p.S775F Substitution - Missense 1:179108943-179108943 - pfg019T COSM1639631 c.1507C>T p.R503* Substitution - Nonsense 1:179114932-179114932 - ESCC_42 COSM5629648 c.1483T>A p.Y495N Substitution - Missense 1:179114956-179114956 - DN12101 COSM5800373 c.3098G>A p.S1033N Substitution - Missense 1:179108169-179108169 - TCGA-GF-A4EO-06 COSM3479192 c.1361C>T p.P454L Substitution - Missense 1:179117379-179117379 - BHY COSM4592349 c.2582C>G p.A861G Substitution - Missense 1:179108577-179108577 - Pat_28_B COSM5844635 c.2969C>A p.A990D Substitution - Missense 1:179108190-179108190 - PD0880a COSM20641 c.1427delC p.P476fs*7 Deletion - Frameshift 1:179114909-179114909 - RK010_C COSM1626652 c.1530C>T p.C510C Substitution - coding silent 1:179114909-179114909 - CSCC-57-T COSM4537858 c.2362G>A p.E788K Substitution - Missense 1:179108797-179108797 - TCGA-FU-A3YQ-01 COSM4823472 c.573C>T p.I191I Substitution - coding silent 1:179126491-179126491 - TCGA-AP-A056-01 COSM1583785 c.3073G>A p.A1025T Substitution - Missense 1:179108194-179108194 - CSCC-49-T COSM1499956 c.1133G>A p.R378Q Substitution - Missense 1:179118677-179118677 - S02242 COSM4652082 c.1577C>T p.S526L Substitution - Missense 1:179110422-179110422 - 17741 COSM48944 c.357_358delCT p.W120fs*28 Deletion - Frameshift 1:179126598-179126599 - TCGA-BR-4184-01 COSM4025554 c.2976C>T p.G992G Substitution - coding silent 1:179108183-179108183 - PT48 COSM5930404 c.3044C>T p.S1015F Substitution - Missense 1:179108115-179108115 - DM29 COSM5607727 c.2716G>A p.E906K Substitution - Missense 1:179108551-179108551 - SA072 COSM211919 c.2990G>T p.S997I Substitution - Missense 1:179108169-179108169 - CSCC-38-T COSM4484404 c.2697C>T p.I899I Substitution - coding silent 1:179108462-179108462 - 2011-2368:2012-1297-T COSM4604986 c.2821C>G p.H941D Substitution - Missense 1:179108446-179108446 - TCGA-66-2785-01 COSM1146059 c.1971G>A p.M657I Substitution - Missense 1:179109296-179109296 - HCC153T COSM5823283 c.240T>G p.Y80* Substitution - Nonsense 1:179131462-179131462 - T55 COSM4658567 c.780C>T p.G260G Substitution - coding silent 1:179121667-179121667 - S06-38853-TP COSM4990495 c.3126T>G p.P1042P Substitution - coding silent 1:179108141-179108141 - YUMOBER COSM5378627 c.1260C>T p.N420N Substitution - coding silent 1:179117480-179117480 - TCGA-D1-A174-01 COSM1151916 c.3162G>A p.S1054S Substitution - coding silent 1:179108105-179108105 - WSU-HN8 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - Au2 COSM5599012 c.1011C>A p.L337L Substitution - coding silent 1:179118691-179118691 - TCGA-BR-8589-01 COSM4025572 c.888A>C p.E296D Substitution - Missense 1:179120239-179120239 - NB-1931 COSM1283198 c.2878C>G p.P960A Substitution - Missense 1:179108281-179108281 - TCGA-A2-A04W-01 COSM424694 c.571G>T p.D191Y Substitution - Missense 1:179126385-179126385 - T3724 COSM4658571 c.492T>C p.S164S Substitution - coding silent 1:179126464-179126464 - YUOMEGA COSM5378626 c.1480C>T p.P494S Substitution - Missense 1:179112372-179112372 - UM-SCC-47 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - TCGA-B5-A0JY-01 COSM1583755 c.262G>A p.A88T Substitution - Missense 1:179131440-179131440 - B105-0-Tumor COSM1747975 c.521C>T p.S174L Substitution - Missense 1:179126435-179126435 - TCGA-B5-A0JY-01 COSM1583789 c.3430G>A p.E1144K Substitution - Missense 1:179107837-179107837 - 2521262 COSM3479178 c.2216C>T p.S739F Substitution - Missense 1:179108943-179108943 - PD4107a COSM4809711 c.2504A>C p.K835T Substitution - Missense 1:179108763-179108763 - TCGA-BR-4361-01 COSM4025576 c.655C>T p.L219L Substitution - coding silent 1:179121792-179121792 - 2492710 COSM5716952 c.3237C>T p.I1079I Substitution - coding silent 1:179108030-179108030 - TCGA-BP-4976-01 COSM463493 c.790G>A p.G264R Substitution - Missense 1:179121657-179121657 - 304_T COSM3976608 c.787G>C p.A263P Substitution - Missense 1:179121768-179121768 - PD1352a COSM21253 c.2371delG p.D791fs*43 Deletion - Frameshift 1:179108788-179108788 - ESO-191 COSM1244038 c.847A>C p.M283L Substitution - Missense 1:179121708-179121708 - TCGA-AM-5821-01 COSM3750641 c.1494A>C p.L498L Substitution - coding silent 1:179114945-179114945 - DM10 COSM5607719 c.527G>T p.G176V Substitution - Missense 1:179126537-179126537 - TCGA-ER-A42K-06 COSM4894780 c.2357C>T p.P786L Substitution - Missense 1:179108802-179108802 - TCGA-EE-A3AA-06 COSM39700 c.1352C>T p.P451L Substitution - Missense 1:179114979-179114979 - TCGA-32-5222-01 COSM1626654 c.1422C>T p.C474C Substitution - coding silent 1:179114909-179114909 - OSCC-GB_01210111 COSM1639631 c.1507C>T p.R503* Substitution - Nonsense 1:179114932-179114932 - PD18048a COSM5800373 c.3098G>A p.S1033N Substitution - Missense 1:179108169-179108169 - 8061185 COSM3385456 c.1525G>C p.G509R Substitution - Missense 1:179114914-179114914 - CSCC-57-T COSM4537856 c.2470G>A p.E824K Substitution - Missense 1:179108797-179108797 - 2492720 COSM5719419 c.3155C>T p.S1052F Substitution - Missense 1:179108112-179108112 - 1N25-VS-1T25 COSM4973333 c.2103C>A p.F701L Substitution - Missense 1:179109164-179109164 - TCGA-ER-A19A-06 COSM3479175 c.2266C>T p.P756S Substitution - Missense 1:179108893-179108893 - WSU-HN13 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - RKO COSM2095022 c.2849delC p.P950fs*4 Deletion - Frameshift 1:179108310-179108310 - TCGA-B5-A11E-01 COSM900226 c.92C>T p.S31F Substitution - Missense 1:179142953-179142953 - UMC11 COSM2095053 c.2572A>G p.T858A Substitution - Missense 1:179108695-179108695 - BICR_22 COSM4592349 c.2582C>G p.A861G Substitution - Missense 1:179108577-179108577 - YUSMI COSM5378642 c.301C>T p.L101F Substitution - Missense 1:179126655-179126655 - 4472_T COSM3976607 c.965A>G p.Y322C Substitution - Missense 1:179118737-179118737 - T3262 COSM4658572 c.177G>A p.V59V Substitution - coding silent 1:179133355-179133355 - DM51 COSM5607739 c.2713C>T p.P905S Substitution - Missense 1:179108554-179108554 - S02-14875-TP COSM1181444 c.1739G>A p.R580Q Substitution - Missense 1:179110368-179110368 - H1155 COSM1195526 c.1219G>A p.A407T Substitution - Missense 1:179117413-179117413 - SNU-C4 COSM4652080 c.1685C>T p.S562L Substitution - Missense 1:179110422-179110422 - EGC15 COSM5052837 c.1596delT p.F532fs*21 Deletion - Frameshift 1:179112364-179112364 - DM79 COSM5607744 c.2430G>A p.E810E Substitution - coding silent 1:179108729-179108729 - Pat_53_B COSM5844639 c.1998delC p.K667fs*90 Deletion - Frameshift 1:179109269-179109269 - CPCG0103-P2 COSM3396134 c.728A>G p.E243G Substitution - Missense 1:179121827-179121827 - B80 COSM1747972 c.2136C>T p.I712I Substitution - coding silent 1:179109023-179109023 - DM8 COSM5607745 c.1471C>T p.L491L Substitution - coding silent 1:179114968-179114968 - WSU-HN6 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - M031 COSM1738407 c.3056C>G p.P1019R Substitution - Missense 1:179108103-179108103 - BICR_22 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - T15 COSM5618879 c.543G>A p.V181V Substitution - coding silent 1:179126413-179126413 - CPCG0103-P1 COSM3396134 c.728A>G p.E243G Substitution - Missense 1:179121827-179121827 - TCGA-IH-A3EA-01 COSM3479179 c.2072C>T p.S691F Substitution - Missense 1:179109195-179109195 - TCGA-B5-A0JY-01 COSM1583773 c.1923G>T p.E641D Substitution - Missense 1:179109344-179109344 - SH-9248 COSM5020942 c.2408A>G p.E803G Substitution - Missense 1:179108751-179108751 - BICR_22 COSM4592347 c.2690C>G p.A897G Substitution - Missense 1:179108577-179108577 - 2492702 COSM5599012 c.1011C>A p.L337L Substitution - coding silent 1:179118691-179118691 - 1N25-VS-1T25 COSM4973332 c.2203A>C p.S735R Substitution - Missense 1:179108956-179108956 - BD242T COSM5495760 c.2526T>G p.A842A Substitution - coding silent 1:179108741-179108741 - DM49 COSM5607735 c.1427C>T p.P476L Substitution - Missense 1:179114904-179114904 - ESO-184 COSM1244037 c.1831G>A p.D611N Substitution - Missense 1:179109328-179109328 - TCGA-BJ-A3EZ-01 COSM3369422 c.948G>A p.V316V Substitution - coding silent 1:179121607-179121607 - 2492723 COSM5719421 c.3047C>T p.S1016F Substitution - Missense 1:179108112-179108112 - TCGA-A8-A0A6-01 COSM3802993 c.1570T>G p.W524G Substitution - Missense 1:179112390-179112390 - CSCC-49-T COSM4536732 c.2231G>A p.R744K Substitution - Missense 1:179108928-179108928 - pfg019T COSM1639633 c.1399C>T p.R467* Substitution - Nonsense 1:179114932-179114932 - TCGA-CG-5723-01 COSM2095092 c.2263C>T p.R755C Substitution - Missense 1:179109004-179109004 - 2011-2266:2012-3270-T COSM4604375 c.1502G>T p.G501V Substitution - Missense 1:179114937-179114937 - YUOMEGA COSM5378623 c.1588C>T p.P530S Substitution - Missense 1:179112372-179112372 - ESCC_158 COSM5646547 c.1669G>A p.G557R Substitution - Missense 1:179110438-179110438 - 11M COSM4990515 c.1905C>T p.S635S Substitution - coding silent 1:179109254-179109254 - PD4953a COSM5771582 c.1718C>G p.P573R Substitution - Missense 1:179110389-179110389 - TCGA-A6-6780-01 COSM1336681 c.147A>G p.E49E Substitution - coding silent 1:179131447-179131447 - 587228 COSM1181444 c.1739G>A p.R580Q Substitution - Missense 1:179110368-179110368 - TCGA-60-2721-01 COSM1146067 c.896A>G p.Y299C Substitution - Missense 1:179121659-179121659 - TCGA-G9-6351-01 COSM3671517 c.178G>T p.E60* Substitution - Nonsense 1:179133354-179133354 - S00935 COSM5663029 c.2891A>T p.H964L Substitution - Missense 1:179108376-179108376 - TCGA-EK-A2H0-01 COSM4819063 c.2999C>G p.S1000* Substitution - Nonsense 1:179108268-179108268 - HX16T COSM1601297 c.2749G>A p.A917T Substitution - Missense 1:179108518-179108518 - SH-5693 COSM5020427 c.939A>G p.T313T Substitution - coding silent 1:179121616-179121616 - 4472_T COSM3976604 c.1073A>G p.Y358C Substitution - Missense 1:179118737-179118737 - TCGA-FD-A3SL-01 COSM3789157 c.2692C>T p.L898F Substitution - Missense 1:179108467-179108467 - PD1379a COSM12783 c.1448G>T p.R483I Substitution - Missense 1:179114883-179114883 - TCGA-E2-A1LG-01 COSM1473063 c.1255G>C p.E419Q Substitution - Missense 1:179117377-179117377 - TCGA-CM-5861-01 COSM1336654 c.1427_1428insC p.K477fs*1 Insertion - Frameshift 1:179114903-179114904 - TCGA-CA-6718-01 COSM1336655 c.1101G>A p.G367G Substitution - coding silent 1:179118709-179118709 - sysucc-1370T COSM5469786 c.1844G>C p.G615A Substitution - Missense 1:179109315-179109315 - CSCC-29-T COSM4464614 c.1342C>T p.P448S Substitution - Missense 1:179117398-179117398 - TCGA-AM-5821-01 COSM3689167 c.1844G>A p.G615D Substitution - Missense 1:179109315-179109315 - TCGA-BP-4976-01 COSM1134778 c.898G>A p.G300R Substitution - Missense 1:179121657-179121657 - PD1379a COSM12783 c.1448G>T p.R483I Substitution - Missense 1:179114883-179114883 - WSU-HN12 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - TCGA-B5-A0JT-01 COSM1583787 c.3373G>T p.D1125Y Substitution - Missense 1:179107894-179107894 - S02242 COSM4652080 c.1685C>T p.S562L Substitution - Missense 1:179110422-179110422 - PT23_1 COSM4464614 c.1342C>T p.P448S Substitution - Missense 1:179117398-179117398 - TARGET-30-PANYGR-01A-01W COSM1283196 c.2986C>G p.P996A Substitution - Missense 1:179108281-179108281 - HCC150T COSM3705275 c.2410A>T p.N804Y Substitution - Missense 1:179108857-179108857 - S00944 COSM308793 c.2131_2132GG>TT p.G711>? Complex 1:179109027-179109028 - TCGA-D1-A176-01 COSM900220 c.745C>T p.R249* Substitution - Nonsense 1:179121702-179121702 - 101704 COSM93846 c.1429A>G p.K477E Substitution - Missense 1:179114902-179114902 - PD3856a COSM1499956 c.1133G>A p.R378Q Substitution - Missense 1:179118677-179118677 - S00-35182-TP COSM4990506 c.2817C>T p.P939P Substitution - coding silent 1:179108342-179108342 - TCGA-D8-A1XQ-01 COSM252947 c.2400delA p.K800fs*34 Deletion - Frameshift 1:179108759-179108759 - C037 COSM5524314 c.1530C>T p.S510S Substitution - coding silent 1:179112322-179112322 - YUOTHO COSM5378638 c.879C>T p.F293F Substitution - coding silent 1:179120248-179120248 - TCGA-EE-A2MD-06 COSM3479191 c.1347A>G p.P449P Substitution - coding silent 1:179114984-179114984 - HCC150 COSM3705277 c.2302A>T p.N768Y Substitution - Missense 1:179108857-179108857 - HCC22T COSM3705278 c.1398T>G p.S466S Substitution - coding silent 1:179117342-179117342 - S09-2518-TP COSM4990498 c.3100G>A p.G1034R Substitution - Missense 1:179108167-179108167 - S09-2518-TP COSM4990500 c.2992G>A p.G998R Substitution - Missense 1:179108167-179108167 - 2492723 COSM5719419 c.3155C>T p.S1052F Substitution - Missense 1:179108112-179108112 - HX16T COSM1601299 c.2641G>A p.A881T Substitution - Missense 1:179108518-179108518 - TCGA-ER-A19A-06 COSM3479173 c.2374C>T p.P792S Substitution - Missense 1:179108893-179108893 - PD0119a COSM594 c.187G>C p.E63Q Substitution - Missense 1:179131407-179131407 - SW48 COSM2095185 c.1034T>C p.V345A Substitution - Missense 1:179120201-179120201 - CAL27 COSM4226642 c.2665A>C p.K889Q Substitution - Missense 1:179108602-179108602 - ACINAR28 COSM1336639 c.2508delA p.K836fs*34 Deletion - Frameshift 1:179108759-179108759 - TCGA-BR-8589-01 COSM4025580 c.443A>G p.E148G Substitution - Missense 1:179126513-179126513 - UPCI:SCC090 COSM4592349 c.2582C>G p.A861G Substitution - Missense 1:179108577-179108577 - I2L-P19Ta-Tumor-Biopsy COSM5352431 c.2160delG p.S721fs*36 Deletion - Frameshift 1:179109107-179109107 - PDA_009 COSM4998356 c.2062A>G p.N688D Substitution - Missense 1:179109205-179109205 - TCGA-A6-6781-01 COSM1336633 c.3481G>A p.G1161R Substitution - Missense 1:179107786-179107786 - PD4107a COSM4809711 c.2504A>C p.K835T Substitution - Missense 1:179108763-179108763 - UMC11 COSM2095055 c.2464A>G p.T822A Substitution - Missense 1:179108695-179108695 - S02-14875-TP COSM1181446 c.1631G>A p.R544Q Substitution - Missense 1:179110368-179110368 - BHY COSM4592347 c.2690C>G p.A897G Substitution - Missense 1:179108577-179108577 - LUAD_E00522 COSM352858 c.2005C>T p.P669S Substitution - Missense 1:179109154-179109154 - DM36 COSM5607730 c.2113C>T p.P705S Substitution - Missense 1:179109154-179109154 - HCC22 COSM3705278 c.1398T>G p.S466S Substitution - coding silent 1:179117342-179117342 - RK010_C01 COSM1626652 c.1530C>T p.C510C Substitution - coding silent 1:179114909-179114909 - TCGA-BR-4184-01 COSM4025552 c.3084C>T p.G1028G Substitution - coding silent 1:179108183-179108183 - PD7211a COSM5774975 c.28G>T p.E10* Substitution - Nonsense 1:179229370-179229370 - HCC086T COSM5813072 c.1755A>T p.P585P Substitution - coding silent 1:179109404-179109404 - SCC-9 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - TCGA-BR-8487-01 COSM2095185 c.1034T>C p.V345A Substitution - Missense 1:179120201-179120201 - TCGA-AZ-4315-01 COSM1336661 c.929A>G p.Y310C Substitution - Missense 1:179121626-179121626 - 6115227 COSM5551864 c.572A>G p.D191G Substitution - Missense 1:179126384-179126384 - Pat_28_B COSM5844633 c.3077C>A p.A1026D Substitution - Missense 1:179108190-179108190 - SNUH_G16_S1 COSM3677464 c.3254G>A p.S1085N Substitution - Missense 1:179108013-179108013 - TCGA-BR-8487-01 COSM2095187 c.926T>C p.V309A Substitution - Missense 1:179120201-179120201 - TCGA-AP-A059-01 COSM900207 c.2489C>A p.S830Y Substitution - Missense 1:179108670-179108670 - CHC2111T COSM5352390 c.1216_1217ins13 p.H406fs*5 Insertion - Frameshift 1:179117415-179117416 - TCGA-BR-4184-01 COSM4025563 c.2156G>A p.R719H Substitution - Missense 1:179109003-179109003 - TCGA-BR-4361-01 COSM4025573 c.763C>T p.L255L Substitution - coding silent 1:179121792-179121792 - TCGA-D1-A174-01 COSM900203 c.3054G>A p.S1018S Substitution - coding silent 1:179108105-179108105 - TCGA-CM-6162-01 COSM1336645 c.2082C>T p.D694D Substitution - coding silent 1:179109077-179109077 - 8031121 COSM3385460 c.687+1G>A p.? Unknown 1:179126376-179126376 - 112719 COSM93845 c.1523A>T p.H508L Substitution - Missense 1:179112329-179112329 - TCGA-AP-A0LM-01 COSM900222 c.562A>C p.T188P Substitution - Missense 1:179126394-179126394 - TCGA-CM-5861-01 COSM1336652 c.1535_1536insC p.K513fs*1 Insertion - Frameshift 1:179114903-179114904 - TCGA-18-3409-01 COSM1146065 c.1120C>T p.R374* Substitution - Nonsense 1:179118690-179118690 - ESO16T COSM1172068 c.428G>A p.G143D Substitution - Missense 1:179126636-179126636 - TCGA-39-5029-01 COSM1146063 c.1501G>T p.G501* Substitution - Nonsense 1:179114938-179114938 - HCC22T COSM3705281 c.1290T>G p.S430S Substitution - coding silent 1:179117342-179117342 - UPCI:SCC090 COSM4226644 c.2557A>C p.K853Q Substitution - Missense 1:179108602-179108602 - TCGA-66-2785-01 COSM677879 c.1863G>A p.M621I Substitution - Missense 1:179109296-179109296 - T2940 COSM900213 c.1569C>T p.A523A Substitution - coding silent 1:179110430-179110430 - TCGA-ET-A2MY-01 COSM3369416 c.3239C>G p.S1080* Substitution - Nonsense 1:179108028-179108028 - 2492721 COSM5719419 c.3155C>T p.S1052F Substitution - Missense 1:179108112-179108112 - A3 COSM5350012 c.3278A>C p.Q1093P Substitution - Missense 1:179107881-179107881 - PT33 COSM3479175 c.2266C>T p.P756S Substitution - Missense 1:179108893-179108893 - 2492708 COSM5716952 c.3237C>T p.I1079I Substitution - coding silent 1:179108030-179108030 - BD242T COSM5495762 c.2418T>G p.A806A Substitution - coding silent 1:179108741-179108741 - S00944 COSM308793 c.2131_2132GG>TT p.G711>? Complex 1:179109027-179109028 - TCGA-CJ-4884-01 COSM3360513 c.337G>T p.V113F Substitution - Missense 1:179131365-179131365 - TCGA-CA-6717-01 COSM1336632 c.3379A>G p.N1127D Substitution - Missense 1:179107780-179107780 - TCGA-A2-A0YG-01 COSM424693 c.1689A>T p.T563T Substitution - coding silent 1:179110310-179110310 - TCGA-FW-A3R5-06 COSM3863702 c.3405C>T p.A1135A Substitution - coding silent 1:179107862-179107862 - 2011-2266:2012-3270-T COSM4604378 c.1394G>T p.G465V Substitution - Missense 1:179114937-179114937 - LIM2405 COSM4641572 c.2897T>C p.V966A Substitution - Missense 1:179108370-179108370 - TCGA-AX-A0J1-01 COSM900223 c.437C>T p.A146V Substitution - Missense 1:179126519-179126519 - TCGA-B5-A0JY-01 COSM900212 c.1815G>T p.E605D Substitution - Missense 1:179109344-179109344 - T3262 COSM2095150 c.1535delC p.P512fs*7 Deletion - Frameshift 1:179114904-179114904 - TCGA-D3-A2JF-06 COSM2095031 c.2795C>T p.S932F Substitution - Missense 1:179108364-179108364 - TCGA-AP-A056-01 COSM900209 c.2169G>T p.K723N Substitution - Missense 1:179108990-179108990 - TCGA-ET-A2MY-01 COSM3369418 c.3131C>G p.S1044* Substitution - Nonsense 1:179108028-179108028 - LIM2405 COSM4641574 c.2789T>C p.V930A Substitution - Missense 1:179108370-179108370 - sysucc-1370T COSM5469783 c.2325G>A p.Q775Q Substitution - coding silent 1:179108834-179108834 - DM51 COSM5607736 c.3382C>T p.P1128S Substitution - Missense 1:179107885-179107885 - 2492700 COSM5599009 c.1119C>A p.L373L Substitution - coding silent 1:179118691-179118691 - TCGA-ET-A2MY-01 COSM3369421 c.3025C>T p.Q1009* Substitution - Nonsense 1:179108134-179108134 - 1466781 COSM5702539 c.1153G>T p.V385L Substitution - Missense 1:179118657-179118657 - PDA_096 COSM5003296 c.2836G>A p.V946M Substitution - Missense 1:179108431-179108431 - S48_pre COSM5574372 c.786G>T p.Q262H Substitution - Missense 1:179121661-179121661 - CRC-06T COSM5456206 c.431G>A p.R144H Substitution - Missense 1:179126525-179126525 - TCGA-AX-A0J0-01 COSM900211 c.1871G>T p.R624I Substitution - Missense 1:179109288-179109288 - YUMOBER COSM463493 c.790G>A p.G264R Substitution - Missense 1:179121657-179121657 - 8035740 COSM3385453 c.2424C>T p.S808S Substitution - coding silent 1:179108843-179108843 - T2269 COSM4658560 c.1602A>G p.E534E Substitution - coding silent 1:179112358-179112358 - I2L-P19Ta-Tumor-Organoid COSM5352431 c.2160delG p.S721fs*36 Deletion - Frameshift 1:179109107-179109107 - DM8 COSM5607748 c.1363C>T p.L455L Substitution - coding silent 1:179114968-179114968 - S02139 COSM5673922 c.489A>C p.E163D Substitution - Missense 1:179126467-179126467 - PD1352a COSM21253 c.2371delG p.D791fs*43 Deletion - Frameshift 1:179108788-179108788 - YUMOBER COSM1134778 c.898G>A p.G300R Substitution - Missense 1:179121657-179121657 - HCC22 COSM3705281 c.1290T>G p.S430S Substitution - coding silent 1:179117342-179117342 - YUKAT COSM5378631 c.1100G>A p.G367E Substitution - Missense 1:179118710-179118710 - S00-35182-TP COSM4990503 c.2818C>T p.R940* Substitution - Nonsense 1:179108341-179108341 - TCGA-A5-A0VP-01 COSM1583771 c.1677C>T p.A559A Substitution - coding silent 1:179110430-179110430 - SNUH_G76_S1 COSM3750641 c.1494A>C p.L498L Substitution - coding silent 1:179114945-179114945 - TCGA-EI-6917-01 COSM1583779 c.2277G>T p.K759N Substitution - Missense 1:179108990-179108990 - SNU-C4 COSM4652082 c.1577C>T p.S526L Substitution - Missense 1:179110422-179110422 - S00-35182-TP COSM4990504 c.2925C>T p.P975P Substitution - coding silent 1:179108342-179108342 - OV207 COSM252947 c.2400delA p.K800fs*34 Deletion - Frameshift 1:179108759-179108759 - TCGA-A5-A0VP-01 COSM900213 c.1569C>T p.A523A Substitution - coding silent 1:179110430-179110430 - 2492700 COSM5599012 c.1011C>A p.L337L Substitution - coding silent 1:179118691-179118691 - PD1352a COSM21253 c.2371delG p.D791fs*43 Deletion - Frameshift 1:179108788-179108788 - SH-5693 COSM5020305 c.2281C>T p.L761L Substitution - coding silent 1:179108986-179108986 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.159454;Hs.159472 1q25.2 164690

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F958C c.2873T>G 1 179077529 COREAD AG - Frameshift p.W156Gfs*28 c.465_466delCT 1 179095733 LUAD A G IntronicSNV . c.157+45047T>C 1 179153329 NSCLC - A IntronicInsertion . c.1408+47dupT 1 179086420 PAAD - A IntronicInsertion . c.392-89dupT 1 179095896 ESCA A T IntronicSNV . c.158-42543T>A 1 179145052 CLL C A IntronicSNV . c.1408+13G>T 1 179086454 CM C A Missense p.D1125Y c.3373G>T 1 179077029 UCEC C A Missense p.D227Y c.679G>T 1 179095520 BRCA C A Missense p.G594W c.1780G>T 1 179079462 CM C A Missense p.G733V c.2198G>T 1 179078204 SCLC C A Missense p.G742W c.2224G>T 1 179078178 LUAD C A Missense p.G878V c.2633G>T 1 179077769 LUAD C A Missense p.G878W c.2632G>T 1 179077770 LUSC C A Missense p.K578N c.1734G>T 1 179079508 LUAD C A Missense p.Q965H c.2895G>T 1 179077507 LUAD C A Missense p.R648M c.1943G>T 1 179078459 LUSC C A Missense p.R764L c.2291G>T 1 179078111 CM C A Missense p.S1033I c.3098G>T 1 179077304 BRCA C A Missense p.V113F c.337G>T 1 179100500 RCCC C A Nonsense p.E593* c.1777G>T 1 179079465 SCLC C A Nonsense p.G501* c.1501G>T 1 179084073 LUSC C A Synonymous p.G205G c.615G>T 1 179095584 LUAD C A Synonymous p.V1159V c.3477G>T 1 179076925 LUAD CC AA Missense p.G747F c.2239_2240delinsTT 1 179078162 SCLC - C Frameshift p.S721Efs*9 c.2160dupG 1 179078242 LUSC C G Missense p.E1017Q c.3049G>C 1 179077353 HNSC C G Missense p.E455Q c.1363G>C 1 179086512 BRCA C G Missense p.E85Q c.253G>C 1 179100584 HNSC C G Missense p.G735A c.2204G>C 1 179078198 NSCLC C G Missense p.K893N c.2679G>C 1 179077723 LUAD C G Missense p.R374P c.1121G>C 1 179087824 UCEC C T Missense p.A226T c.676G>A 1 179095523 OV C T Missense p.A443T c.1327G>A 1 179086548 GBM C T Missense p.D647N c.1939G>A 1 179078463 ESCA C T Missense p.D699N c.2095G>A 1 179078307 COREAD C T Missense p.E375K c.1123G>A 1 179087822 CM C T Missense p.E508K c.1522G>A 1 179084052 HNSC C T Missense p.G1021E c.3062G>A 1 179077340 HNSC C T Missense p.G300R c.898G>A 1 179090792 RCCC C T Missense p.G557E c.1670G>A 1 179079572 COREAD C T Missense p.G856E c.2567G>A 1 179077835 HNSC C T Missense p.P487L c.1460C>T 1 179084114 GBM C T Missense p.R378Q c.1133G>A 1 179087812 BRCA C T Missense p.R612K c.1835G>A 1 179078567 BRCA C T Missense p.V425M c.1273G>A 1 179086602 UCEC C T Nonsense p.W145* c.435G>A 1 179095764 CM C T Synonymous p.P911P c.2733G>A 1 179077669 GBM C T Synonymous p.S1054S c.3162G>A 1 179077240 UCEC C T Synonymous p.V316V c.948G>A 1 179090742 THCA G A 3-UTRSNV . c.3546+38C>T 1 179076818 CM GAGTGGTTGG - Frameshift p.P924Tfs*13 c.2770_2779delCCAACCACTC 1 179077623 HNSC G A IntronicSNV . c.157+27347C>T 1 179171029 CM G A IntronicSNV . c.157+8102C>T 1 179190274 CM G A Missense p.H278Y c.832C>T 1 179090858 CM G A Missense p.L244F c.730C>T 1 179090960 BRCA G A Missense p.P487L c.1460C>T 1 179084114 CM G A Missense p.P792S c.2374C>T 1 179078028 CM G A Missense p.P921S c.2761C>T 1 179077641 COREAD G A Missense p.P985L c.2954C>T 1 179077448 CM G A Missense p.S604F c.1811C>T 1 179079431 CM G A Missense p.S691F c.2072C>T 1 179078330 CM G A Missense p.S775F c.2324C>T 1 179078078 CM G A Missense p.S968F c.2903C>T 1 179077499 CM G A Missense p.T163I c.488C>T 1 179095711 CM G A Nonsense p.Q1045* c.3133C>T 1 179077269 THCA G A Nonsense p.R503* c.1507C>T 1 179084067 STAD G A Nonsense p.R898* c.2692C>T 1 179077710 STAD G A Synonymous p.A559A c.1677C>T 1 179079565 UCEC G A Synonymous p.C510C c.1530C>T 1 179084044 GBM G A Synonymous p.C510C c.1530C>T 1 179084044 HC G A Synonymous p.F112F c.336C>T 1 179100501 CM G A Synonymous p.G70G c.210C>T 1 179102457 OV G A Synonymous p.L1145L c.3435C>T 1 179076967 LUAD G A Synonymous p.L190L c.568C>T 1 179095631 HNSC G A Synonymous p.S1014S c.3042C>T 1 179077360 CM G A Synonymous p.S997S c.2991C>T 1 179077411 STAD G A Synonymous p.Y366Y c.1098C>T 1 179087847 UCEC G C Missense p.A412G c.1235C>G 1 179086640 BRCA G C Missense p.P996A c.2986C>G 1 179077416 NB G C Nonsense p.S1080* c.3239C>G 1 179077163 THCA GG AA Missense p.T645I c.1934_1935delinsTT 1 179078467 CM G T 3-UTRSNV . c.3546+2648C>A 1 179074208 HC GT - Frameshift p.H171Lfs*13 c.512_513delAC 1 179095686 CM G T Missense p.T938N c.2813C>A 1 179077589 UCEC T A Missense p.H964L c.2891A>T 1 179077511 SCLC T A Missense p.N830Y c.2488A>T 1 179077914 LUAD T A Synonymous p.T599T c.1797A>T 1 179079445 BRCA T C 3-UTRSNV . c.3546+3570A>G 1 179073286 HC T C 3-UTRSNV . c.3546+4668A>G 1 179072188 MB T C Missense p.D253G c.758A>G 1 179090932 GBM T C Missense p.D827G c.2480A>G 1 179077922 SCLC T C Missense p.K667E c.1999A>G 1 179078403 CM T C Missense p.Y299C c.896A>G 1 179090794 LUSC T C Synonymous p.E593E c.1779A>G 1 179079463 CM T C Synonymous p.P485P c.1455A>G 1 179084119 CM T G Missense p.K835T c.2504A>C 1 179077898 BRCA T G Missense p.M283L c.847A>C 1 179090843 ESCA T G Synonymous p.A798A c.2394A>C 1 179078008 SCLC