Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 179437819 179437819 + Silent SNP T T C TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr3:179437819T>C c.897T>C c.(895-897)caT>caC p.H299H ACC 3 179483602 179483602 + Missense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr3:179483602G>T c.2379G>T c.(2377-2379)aaG>aaT p.K793N BLCA 3 179371085 179371085 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr3:179371085C>T c.72C>T c.(70-72)atC>atT p.I24I BLCA 3 179399668 179399668 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr3:179399668T>A c.171T>A c.(169-171)aaT>aaA p.N57K BLCA 3 179448467 179448467 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr3:179448467C>G c.1224C>G c.(1222-1224)ctC>ctG p.L408L BLCA 3 179458119 179458119 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr3:179458119G>A c.1339G>A c.(1339-1341)Gat>Aat p.D447N BLCA 3 179458161 179458161 + Splice_Site SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr3:179458161G>A c.e11+1 BLCA 3 179460036 179460036 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr3:179460036G>A c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K BLCA 3 179460039 179460039 + Missense_Mutation SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr3:179460039G>A c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K BLCA 3 179460079 179460079 + Missense_Mutation SNP C C T TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr3:179460079C>T c.1475C>T c.(1474-1476)aCg>aTg p.T492M BLCA 3 179462890 179462890 + Missense_Mutation SNP C C T TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr3:179462890C>T c.1594C>T c.(1594-1596)Cct>Tct p.P532S BLCA 3 179462957 179462957 + Missense_Mutation SNP T T C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 g.chr3:179462957T>C c.1661T>C c.(1660-1662)gTt>gCt p.V554A BLCA 3 179470094 179470094 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:179470094C>T c.1731C>T c.(1729-1731)ttC>ttT p.F577F BRCA 3 179399666 179399666 + Splice_Site SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:179399666A>C c.169A>C c.(169-171)Aat>Cat p.N57H BRCA 3 179408081 179408081 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr3:179408081delT c.347delT c.(346-348)attfs p.I116fs BRCA 3 179424844 179424844 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr3:179424844T>C c.600T>C c.(598-600)aaT>aaC p.N200N BRCA 3 179426667 179426667 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:179426667G>A c.727G>A c.(727-729)Ggg>Agg p.G243R BRCA 3 179448005 179448005 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 g.chr3:179448005G>C c.1117G>C c.(1117-1119)Gac>Cac p.D373H BRCA 3 179472637 179472637 + Nonsense_Mutation SNP C C A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 g.chr3:179472637C>A c.1916C>A c.(1915-1917)tCa>tAa p.S639* BRCA 3 179474867 179474867 + Splice_Site SNP G G T TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr3:179474867G>T c.e16+1 BRCA 3 179478911 179478911 + Missense_Mutation SNP G G C TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 g.chr3:179478911G>C c.1960G>C c.(1960-1962)Gat>Cat p.D654H BRCA 3 179483613 179483613 + Missense_Mutation SNP C C A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr3:179483613C>A c.2390C>A c.(2389-2391)cCt>cAt p.P797H CHOL 3 179458119 179458119 + Missense_Mutation SNP G G T TCGA-W5-AA2Z-01A-11D-A417-09 TCGA-W5-AA2Z-11A-11D-A41A-09 g.chr3:179458119G>T c.1339G>T c.(1339-1341)Gat>Tat p.D447Y COAD 3 179408031 179408031 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:179408031G>T c.297G>T c.(295-297)aaG>aaT p.K99N COAD 3 179408080 179408081 + Frame_Shift_Ins INS - - T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:179408080_179408081insT c.346_347insT c.(346-348)attfs p.I116fs COAD 3 179418812 179418812 + Silent SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:179418812C>T c.372C>T c.(370-372)gaC>gaT p.D124D COAD 3 179426590 179426590 + Missense_Mutation SNP G G A TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr3:179426590G>A c.650G>A c.(649-651)cGa>cAa p.R217Q COAD 3 179426712 179426712 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:179426712G>A c.772G>A c.(772-774)Gtg>Atg p.V258M COAD 3 179437748 179437748 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:179437748G>T c.826G>T c.(826-828)Gaa>Taa p.E276* COAD 3 179439264 179439264 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:179439264G>A c.975G>A c.(973-975)acG>acA p.T325T COAD 3 179448421 179448421 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:179448421G>A c.1178G>A c.(1177-1179)gGc>gAc p.G393D COAD 3 179459992 179459992 + Missense_Mutation SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:179459992G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H COAD 3 179460124 179460124 + Missense_Mutation SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:179460124C>T c.1520C>T c.(1519-1521)gCg>gTg p.A507V COAD 3 179462841 179462841 + Silent SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr3:179462841C>T c.1545C>T c.(1543-1545)atC>atT p.I515I COAD 3 179462996 179462996 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:179462996C>T c.1700C>T c.(1699-1701)gCg>gTg p.A567V COAD 3 179472611 179472611 + Frame_Shift_Del DEL C C - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr3:179472611delC c.1890delC c.(1888-1890)agcfs p.S630fs COAD 3 179472611 179472611 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:179472611delC c.1890delC c.(1888-1890)agcfs p.S630fs COADREAD 3 179399742 179399742 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:179399742G>A c.245G>A c.(244-246)cGa>cAa p.R82Q COADREAD 3 179408031 179408031 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:179408031G>T c.297G>T c.(295-297)aaG>aaT p.K99N COADREAD 3 179408080 179408081 + Frame_Shift_Ins INS - - T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:179408080_179408081insT c.346_347insT c.(346-348)attfs p.I116fs COADREAD 3 179418812 179418812 + Silent SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:179418812C>T c.372C>T c.(370-372)gaC>gaT p.D124D COADREAD 3 179426583 179426583 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:179426583G>A c.643G>A c.(643-645)Gac>Aac p.D215N COADREAD 3 179426590 179426590 + Missense_Mutation SNP G G A TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr3:179426590G>A c.650G>A c.(649-651)cGa>cAa p.R217Q COADREAD 3 179426712 179426712 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:179426712G>A c.772G>A c.(772-774)Gtg>Atg p.V258M COADREAD 3 179437748 179437748 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:179437748G>T c.826G>T c.(826-828)Gaa>Taa p.E276* COADREAD 3 179439264 179439264 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:179439264G>A c.975G>A c.(973-975)acG>acA p.T325T COADREAD 3 179448421 179448421 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:179448421G>A c.1178G>A c.(1177-1179)gGc>gAc p.G393D COADREAD 3 179459992 179459992 + Missense_Mutation SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:179459992G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H COADREAD 3 179460124 179460124 + Missense_Mutation SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:179460124C>T c.1520C>T c.(1519-1521)gCg>gTg p.A507V COADREAD 3 179462841 179462841 + Silent SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr3:179462841C>T c.1545C>T c.(1543-1545)atC>atT p.I515I COADREAD 3 179462996 179462996 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:179462996C>T c.1700C>T c.(1699-1701)gCg>gTg p.A567V COADREAD 3 179472611 179472611 + Frame_Shift_Del DEL C C - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr3:179472611delC c.1890delC c.(1888-1890)agcfs p.S630fs COADREAD 3 179472611 179472611 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:179472611delC c.1890delC c.(1888-1890)agcfs p.S630fs COADREAD 3 179483558 179483558 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:179483558G>T c.2335G>T c.(2335-2337)Gag>Tag p.E779* DLBC 3 179424788 179424788 + Missense_Mutation SNP T T C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr3:179424788T>C c.544T>C c.(544-546)Tgg>Cgg p.W182R ESCA 3 179426666 179426666 + Silent SNP C C T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr3:179426666C>T c.726C>T c.(724-726)aaC>aaT p.N242N ESCA 3 179474859 179474859 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr3:179474859G>A c.1941G>A c.(1939-1941)ttG>ttA p.L647L ESCA 3 179481948 179481948 + Nonsense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr3:179481948C>T c.2251C>T c.(2251-2253)Cga>Tga p.R751* HNSC 3 179399665 179399665 + Splice_Site SNP G G C TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr3:179399665G>C c.e2-1 HNSC 3 179418886 179418886 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr3:179418886C>A c.446C>A c.(445-447)gCa>gAa p.A149E HNSC 3 179439191 179439191 + Splice_Site SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr3:179439191C>T c.902C>T c.(901-903)aCa>aTa p.T301I HNSC 3 179439330 179439330 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr3:179439330C>T c.1041C>T c.(1039-1041)ctC>ctT p.L347L HNSC 3 179472519 179472519 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr3:179472519G>T c.e15-1 HNSC 3 179474843 179474843 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr3:179474843G>A c.1925G>A c.(1924-1926)cGc>cAc p.R642H HNSC 3 179481862 179481862 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr3:179481862C>G c.2165C>G c.(2164-2166)tCt>tGt p.S722C KIPAN 3 179426711 179426711 + Silent SNP C C A TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr3:179426711C>A c.771C>A c.(769-771)gcC>gcA p.A257A KIPAN 3 179462840 179462840 + Missense_Mutation SNP T T A TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr3:179462840T>A c.1544T>A c.(1543-1545)aTc>aAc p.I515N KIPAN 3 179478997 179478997 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr3:179478997C>T c.2046C>T c.(2044-2046)ggC>ggT p.G682G KIRC 3 179478997 179478997 + Silent SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr3:179478997C>T c.2046C>T c.(2044-2046)ggC>ggT p.G682G KIRP 3 179426711 179426711 + Silent SNP C C A TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr3:179426711C>A c.771C>A c.(769-771)gcC>gcA p.A257A KIRP 3 179462840 179462840 + Missense_Mutation SNP T T A TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr3:179462840T>A c.1544T>A c.(1543-1545)aTc>aAc p.I515N LIHC 3 179448452 179448452 + Silent SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr3:179448452G>A c.1209G>A c.(1207-1209)ccG>ccA p.P403P LIHC 3 179501906 179501906 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr3:179501906delT c.2569delT c.(2569-2571)tttfs p.F857fs LUAD 3 179399708 179399708 + Missense_Mutation SNP G G T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr3:179399708G>T c.211G>T c.(211-213)Gcc>Tcc p.A71S LUAD 3 179426584 179426584 + Missense_Mutation SNP A A T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:179426584A>T c.644A>T c.(643-645)gAc>gTc p.D215V LUAD 3 179426668 179426668 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr3:179426668G>T c.728G>T c.(727-729)gGg>gTg p.G243V LUAD 3 179437822 179437822 + Splice_Site SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr3:179437822G>T c.900G>T c.(898-900)ggG>ggT p.G300G LUAD 3 179439258 179439258 + Silent SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:179439258G>T c.969G>T c.(967-969)tcG>tcT p.S323S LUAD 3 179439297 179439297 + Silent SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr3:179439297G>T c.1008G>T c.(1006-1008)acG>acT p.T336T LUAD 3 179439297 179439297 + Silent SNP G G T TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr3:179439297G>T c.1008G>T c.(1006-1008)acG>acT p.T336T LUAD 3 179448420 179448420 + Missense_Mutation SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr3:179448420G>T c.1177G>T c.(1177-1179)Ggc>Tgc p.G393C LUAD 3 179448421 179448421 + Missense_Mutation SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr3:179448421G>T c.1178G>T c.(1177-1179)gGc>gTc p.G393V LUAD 3 179459992 179459992 + Missense_Mutation SNP G G A TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr3:179459992G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H LUAD 3 179460012 179460012 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr3:179460012A>C c.1408A>C c.(1408-1410)Agc>Cgc p.S470R LUAD 3 179460065 179460065 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr3:179460065G>T c.1461G>T c.(1459-1461)cgG>cgT p.R487R LUAD 3 179472617 179472617 + Silent SNP C C A TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr3:179472617C>A c.1896C>A c.(1894-1896)ccC>ccA p.P632P LUAD 3 179478937 179478937 + Silent SNP C C G TCGA-69-7760-01A-11D-2167-08 TCGA-69-7760-10A-01D-2167-08 g.chr3:179478937C>G c.1986C>G c.(1984-1986)gcC>gcG p.A662A LUAD 3 179478938 179478938 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr3:179478938G>C c.1987G>C c.(1987-1989)Gag>Cag p.E663Q LUAD 3 179481856 179481856 + Missense_Mutation SNP G G T TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr3:179481856G>T c.2159G>T c.(2158-2160)gGt>gTt p.G720V LUAD 3 179481954 179481954 + Missense_Mutation SNP A A T TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr3:179481954A>T c.2257A>T c.(2257-2259)Acg>Tcg p.T753S LUAD 3 179483594 179483594 + Nonsense_Mutation SNP G G T TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr3:179483594G>T c.2371G>T c.(2371-2373)Gag>Tag p.E791* LUAD 3 179499559 179499559 + Nonsense_Mutation SNP G G T TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr3:179499559G>T c.2446G>T c.(2446-2448)Gga>Tga p.G816* LUAD 3 179501842 179501842 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr3:179501842G>T c.2505G>T c.(2503-2505)gtG>gtT p.V835V LUAD 3 179501900 179501900 + Missense_Mutation SNP A A C TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr3:179501900A>C c.2563A>C c.(2563-2565)Atg>Ctg p.M855L LUSC 3 179399767 179399767 + Missense_Mutation SNP G G A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr3:179399767G>A c.270G>A c.(268-270)atG>atA p.M90I LUSC 3 179399768 179399768 + Missense_Mutation SNP C C T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr3:179399768C>T c.271C>T c.(271-273)Cac>Tac p.H91Y LUSC 3 179426590 179426590 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:179426590G>T c.650G>T c.(649-651)cGa>cTa p.R217L LUSC 3 179426630 179426630 + Silent SNP G G T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr3:179426630G>T c.690G>T c.(688-690)ctG>ctT p.L230L LUSC 3 179447977 179447977 + Splice_Site SNP G G T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr3:179447977G>T c.1089G>T c.(1087-1089)gcG>gcT p.A363A LUSC 3 179448430 179448430 + Missense_Mutation SNP C C T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr3:179448430C>T c.1187C>T c.(1186-1188)tCa>tTa p.S396L LUSC 3 179458136 179458136 + Missense_Mutation SNP C C G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr3:179458136C>G c.1356C>G c.(1354-1356)ttC>ttG p.F452L LUSC 3 179460014 179460014 + Silent SNP C C T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr3:179460014C>T c.1410C>T c.(1408-1410)agC>agT p.S470S LUSC 3 179472565 179472565 + Missense_Mutation SNP G G T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr3:179472565G>T c.1844G>T c.(1843-1845)cGa>cTa p.R615L LUSC 3 179478921 179478921 + Missense_Mutation SNP C C T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 g.chr3:179478921C>T c.1970C>T c.(1969-1971)tCa>tTa p.S657L LUSC 3 179481915 179481915 + Nonsense_Mutation SNP G G T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr3:179481915G>T c.2218G>T c.(2218-2220)Gga>Tga p.G740* LUSC 3 179501871 179501871 + Nonsense_Mutation SNP C C G TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr3:179501871C>G c.2534C>G c.(2533-2535)tCa>tGa p.S845* LUSC 3 179501877 179501877 + Missense_Mutation SNP G G T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr3:179501877G>T c.2540G>T c.(2539-2541)aGg>aTg p.R847M OV 3 179371050 179371050 + Missense_Mutation SNP G G A TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 g.chr3:179371050G>A c.37G>A c.(37-39)Ggc>Agc p.G13S OV 3 179458043 179458043 + Silent SNP G G A TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 g.chr3:179458043G>A c.1263G>A c.(1261-1263)caG>caA p.Q421Q OV 3 179470151 179470151 + Silent SNP C C G TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 g.chr3:179470151C>G c.1788C>G c.(1786-1788)ccC>ccG p.P596P OV 3 179478937 179478937 + Silent SNP C C G TCGA-24-1419-01A-01W-0545-08 TCGA-24-1419-10A-01W-0545-08 g.chr3:179478937C>G c.1986C>G c.(1984-1986)gcC>gcG p.A662A PAAD 3 179472528 179472528 + Missense_Mutation SNP A A G TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 g.chr3:179472528A>G c.1807A>G c.(1807-1809)Att>Gtt p.I603V PAAD 3 179481862 179481862 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:179481862C>A c.2165C>A c.(2164-2166)tCt>tAt p.S722Y PAAD 3 179499528 179499528 + Splice_Site SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:179499528A>G c.2415A>G c.(2413-2415)acA>acG p.T805T READ 3 179399742 179399742 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:179399742G>A c.245G>A c.(244-246)cGa>cAa p.R82Q READ 3 179426583 179426583 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:179426583G>A c.643G>A c.(643-645)Gac>Aac p.D215N READ 3 179483558 179483558 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:179483558G>T c.2335G>T c.(2335-2337)Gag>Tag p.E779* SARC 3 179439296 179439296 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 g.chr3:179439296C>T c.1007C>T c.(1006-1008)aCg>aTg p.T336M SARC 3 179499580 179499580 + Missense_Mutation SNP C C T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 g.chr3:179499580C>T c.2467C>T c.(2467-2469)Cat>Tat p.H823Y SKCM 3 179437811 179437811 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr3:179437811C>T c.889C>T c.(889-891)Cat>Tat p.H297Y SKCM 3 179460024 179460024 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:179460024C>T c.1420C>T c.(1420-1422)Cgt>Tgt p.R474C SKCM 3 179478950 179478950 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr3:179478950C>T c.1999C>T c.(1999-2001)Ccg>Tcg p.P667S SKCM 3 179483632 179483632 + Silent SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:179483632T>C c.2409T>C c.(2407-2409)tcT>tcC p.S803S SKCM 3 179501868 179501868 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:179501868C>T c.2531C>T c.(2530-2532)gCc>gTc p.A844V

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 3 179459997 179459997 single base substitution G A exon_variant BLCA-CN 3 179459997 179459997 single base substitution G A missense_variant G111S 331G>A BLCA-CN 3 179459997 179459997 single base substitution G A missense_variant G400S 1198G>A BLCA-CN 3 179459997 179459997 single base substitution G A missense_variant G465S 1393G>A BLCA-US 3 179371085 179371085 single base substitution C T exon_variant BLCA-US 3 179371085 179371085 single base substitution C T synonymous_variant I24I 72C>T BLCA-US 3 179371085 179371085 single base substitution C T upstream_gene_variant BLCA-US 3 179399668 179399668 single base substitution T A missense_variant N57K 171T>A BLCA-US 3 179399668 179399668 single base substitution T A splice_region_variant BLCA-US 3 179448467 179448467 single base substitution C G exon_variant BLCA-US 3 179448467 179448467 single base substitution C G synonymous_variant L343L 1029C>G BLCA-US 3 179448467 179448467 single base substitution C G synonymous_variant L408L 1224C>G BLCA-US 3 179448467 179448467 single base substitution C G synonymous_variant L54L 162C>G BLCA-US 3 179458119 179458119 single base substitution G A exon_variant BLCA-US 3 179458119 179458119 single base substitution G A missense_variant D382N 1144G>A BLCA-US 3 179458119 179458119 single base substitution G A missense_variant D447N 1339G>A BLCA-US 3 179458119 179458119 single base substitution G A missense_variant D93N 277G>A BLCA-US 3 179460036 179460036 single base substitution G A exon_variant BLCA-US 3 179460036 179460036 single base substitution G A missense_variant E124K 370G>A BLCA-US 3 179460036 179460036 single base substitution G A missense_variant E413K 1237G>A BLCA-US 3 179460036 179460036 single base substitution G A missense_variant E478K 1432G>A BLCA-US 3 179462957 179462957 single base substitution T C intron_variant BLCA-US 3 179462957 179462957 single base substitution T C missense_variant V200A 599T>C BLCA-US 3 179462957 179462957 single base substitution T C missense_variant V489A 1466T>C BLCA-US 3 179462957 179462957 single base substitution T C missense_variant V554A 1661T>C BRCA-EU 3 179367071 179367071 single base substitution G A upstream_gene_variant BRCA-EU 3 179367338 179367338 single base substitution G T upstream_gene_variant BRCA-EU 3 179367382 179367382 single base substitution C T upstream_gene_variant BRCA-EU 3 179367481 179367481 single base substitution T G upstream_gene_variant BRCA-EU 3 179368072 179368072 single base substitution G A upstream_gene_variant BRCA-EU 3 179368146 179368146 single base substitution G T upstream_gene_variant BRCA-EU 3 179368654 179368654 single base substitution C G upstream_gene_variant BRCA-EU 3 179369871 179369871 single base substitution T G upstream_gene_variant BRCA-EU 3 179370027 179370027 single base substitution C A upstream_gene_variant BRCA-EU 3 179370658 179370658 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 179370658 179370658 single base substitution G A upstream_gene_variant BRCA-EU 3 179371303 179371303 single base substitution C T intron_variant BRCA-EU 3 179371303 179371303 single base substitution C T upstream_gene_variant BRCA-EU 3 179371538 179371538 single base substitution G T intron_variant BRCA-EU 3 179371538 179371538 single base substitution G T splice_region_variant BRCA-EU 3 179371667 179371667 single base substitution C T intron_variant BRCA-EU 3 179372515 179372515 single base substitution G A intron_variant BRCA-EU 3 179372775 179372775 deletion of <=200bp T - intron_variant BRCA-EU 3 179373237 179373237 single base substitution A G intron_variant BRCA-EU 3 179373741 179373741 single base substitution T C intron_variant BRCA-EU 3 179373956 179373956 single base substitution C T intron_variant BRCA-EU 3 179374455 179374455 single base substitution G C intron_variant BRCA-EU 3 179375382 179375382 single base substitution C G intron_variant BRCA-EU 3 179375387 179375387 deletion of <=200bp A - intron_variant BRCA-EU 3 179376541 179376541 single base substitution C G intron_variant BRCA-EU 3 179377966 179377966 single base substitution T C intron_variant BRCA-EU 3 179378868 179378868 single base substitution G C intron_variant BRCA-EU 3 179382829 179382829 single base substitution C T intron_variant BRCA-EU 3 179383004 179383004 single base substitution G T intron_variant BRCA-EU 3 179383443 179383443 single base substitution G A intron_variant BRCA-EU 3 179383615 179383615 single base substitution C G intron_variant BRCA-EU 3 179383713 179383713 single base substitution T C intron_variant BRCA-EU 3 179384752 179384752 single base substitution C T intron_variant BRCA-EU 3 179384761 179384761 single base substitution C A intron_variant BRCA-EU 3 179384963 179384963 single base substitution G A intron_variant BRCA-EU 3 179385963 179385963 deletion of <=200bp T - intron_variant BRCA-EU 3 179387649 179387649 single base substitution G C intron_variant BRCA-EU 3 179388374 179388374 single base substitution C G intron_variant BRCA-EU 3 179389973 179389973 deletion of <=200bp T - intron_variant BRCA-EU 3 179391549 179391549 single base substitution T A intron_variant BRCA-EU 3 179391842 179391842 single base substitution C T intron_variant BRCA-EU 3 179392532 179392532 deletion of <=200bp T - intron_variant BRCA-EU 3 179392910 179392910 single base substitution C A intron_variant BRCA-EU 3 179392923 179392923 single base substitution A T intron_variant BRCA-EU 3 179393246 179393246 single base substitution G A intron_variant BRCA-EU 3 179393778 179393778 single base substitution G A intron_variant BRCA-EU 3 179394948 179394948 single base substitution C T intron_variant BRCA-EU 3 179396976 179396976 single base substitution T G intron_variant BRCA-EU 3 179397672 179397672 single base substitution A G intron_variant BRCA-EU 3 179398339 179398339 deletion of <=200bp T - intron_variant BRCA-EU 3 179398377 179398377 single base substitution C G intron_variant BRCA-EU 3 179398438 179398438 single base substitution C T intron_variant BRCA-EU 3 179398492 179398492 single base substitution G C intron_variant BRCA-EU 3 179399604 179399604 single base substitution T C intron_variant BRCA-EU 3 179400128 179400128 single base substitution C A intron_variant BRCA-EU 3 179402048 179402048 single base substitution T C intron_variant BRCA-EU 3 179404590 179404590 single base substitution C T intron_variant BRCA-EU 3 179405262 179405262 single base substitution A G intron_variant BRCA-EU 3 179406556 179406556 single base substitution A G intron_variant BRCA-EU 3 179406713 179406713 single base substitution G A intron_variant BRCA-EU 3 179407183 179407183 single base substitution A G intron_variant BRCA-EU 3 179409133 179409152 deletion of <=200bp TCTGATCATTCTTCAGTTTT - intron_variant BRCA-EU 3 179409313 179409313 single base substitution A G intron_variant BRCA-EU 3 179409335 179409335 single base substitution T C intron_variant BRCA-EU 3 179411114 179411114 single base substitution T A intron_variant BRCA-EU 3 179412591 179412591 insertion of <=200bp - G intron_variant BRCA-EU 3 179413843 179413843 deletion of <=200bp T - intron_variant BRCA-EU 3 179414915 179414915 deletion of <=200bp T - intron_variant BRCA-EU 3 179415093 179415093 single base substitution C G intron_variant BRCA-EU 3 179415117 179415117 single base substitution G A intron_variant BRCA-EU 3 179416282 179416283 deletion of <=200bp GT - intron_variant BRCA-EU 3 179416714 179416714 single base substitution G C intron_variant BRCA-EU 3 179418333 179418333 single base substitution C G intron_variant BRCA-EU 3 179418369 179418369 insertion of <=200bp - A intron_variant BRCA-EU 3 179418378 179418378 single base substitution C A intron_variant BRCA-EU 3 179418485 179418485 single base substitution T G intron_variant BRCA-EU 3 179419775 179419775 deletion of <=200bp T - intron_variant BRCA-EU 3 179419862 179419862 single base substitution C T intron_variant BRCA-EU 3 179420702 179420702 single base substitution G C intron_variant BRCA-EU 3 179421562 179421562 single base substitution C G intron_variant BRCA-EU 3 179422169 179422169 single base substitution A G intron_variant BRCA-EU 3 179423062 179423062 single base substitution G A intron_variant BRCA-EU 3 179423704 179423704 single base substitution T C intron_variant BRCA-EU 3 179424102 179424102 single base substitution G C intron_variant BRCA-EU 3 179424396 179424396 single base substitution C T intron_variant BRCA-EU 3 179424542 179424542 single base substitution G A intron_variant BRCA-EU 3 179425089 179425089 single base substitution C G intron_variant BRCA-EU 3 179426909 179426909 single base substitution C T downstream_gene_variant BRCA-EU 3 179426909 179426909 single base substitution C T intron_variant BRCA-EU 3 179428654 179428654 single base substitution C G downstream_gene_variant BRCA-EU 3 179428654 179428654 single base substitution C G intron_variant BRCA-EU 3 179428674 179428674 single base substitution G A downstream_gene_variant BRCA-EU 3 179428674 179428674 single base substitution G A intron_variant BRCA-EU 3 179428897 179428897 single base substitution C G downstream_gene_variant BRCA-EU 3 179428897 179428897 single base substitution C G intron_variant BRCA-EU 3 179430127 179430127 single base substitution G A downstream_gene_variant BRCA-EU 3 179430127 179430127 single base substitution G A intron_variant BRCA-EU 3 179431763 179431763 deletion of <=200bp T - intron_variant BRCA-EU 3 179431826 179431826 deletion of <=200bp A - intron_variant BRCA-EU 3 179432163 179432163 single base substitution G T intron_variant BRCA-EU 3 179432842 179432842 deletion of <=200bp T - intron_variant BRCA-EU 3 179433504 179433504 single base substitution C G intron_variant BRCA-EU 3 179436041 179436041 single base substitution T G intron_variant BRCA-EU 3 179436041 179436041 single base substitution T G upstream_gene_variant BRCA-EU 3 179437206 179437206 single base substitution G C intron_variant BRCA-EU 3 179437206 179437206 single base substitution G C upstream_gene_variant BRCA-EU 3 179437494 179437494 deletion of <=200bp A - intron_variant BRCA-EU 3 179437494 179437494 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 179438331 179438331 single base substitution A C intron_variant BRCA-EU 3 179438331 179438331 single base substitution A C upstream_gene_variant BRCA-EU 3 179439034 179439034 single base substitution G A intron_variant BRCA-EU 3 179439034 179439034 single base substitution G A upstream_gene_variant BRCA-EU 3 179439084 179439084 deletion of <=200bp A - intron_variant BRCA-EU 3 179439084 179439084 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 179439237 179439237 single base substitution G A exon_variant BRCA-EU 3 179439237 179439237 single base substitution G A synonymous_variant E251E 753G>A BRCA-EU 3 179439237 179439237 single base substitution G A synonymous_variant E316E 948G>A BRCA-EU 3 179439237 179439237 single base substitution G A upstream_gene_variant BRCA-EU 3 179439377 179439377 single base substitution C A missense_variant A298E 893C>A BRCA-EU 3 179439377 179439377 single base substitution C A missense_variant A363E 1088C>A BRCA-EU 3 179439377 179439377 single base substitution C A missense_variant A9E 26C>A BRCA-EU 3 179439377 179439377 single base substitution C A splice_region_variant BRCA-EU 3 179439609 179439609 single base substitution C T intron_variant BRCA-EU 3 179439634 179439634 single base substitution C T intron_variant BRCA-EU 3 179439966 179439966 single base substitution C A intron_variant BRCA-EU 3 179440287 179440289 deletion of <=200bp TAA - intron_variant BRCA-EU 3 179441806 179441806 single base substitution G T intron_variant BRCA-EU 3 179443198 179443198 single base substitution C G intron_variant BRCA-EU 3 179443999 179443999 single base substitution C G intron_variant BRCA-EU 3 179444198 179444198 single base substitution C T intron_variant BRCA-EU 3 179444889 179444889 single base substitution C T intron_variant BRCA-EU 3 179447269 179447269 insertion of <=200bp - T intron_variant BRCA-EU 3 179448965 179448965 single base substitution G A intron_variant BRCA-EU 3 179449932 179449932 single base substitution C G intron_variant BRCA-EU 3 179450365 179450365 single base substitution A T intron_variant BRCA-EU 3 179450629 179450629 single base substitution C T intron_variant BRCA-EU 3 179451544 179451544 single base substitution G A intron_variant BRCA-EU 3 179452045 179452045 single base substitution T G intron_variant BRCA-EU 3 179452847 179452847 single base substitution C G intron_variant BRCA-EU 3 179453447 179453447 single base substitution C A intron_variant BRCA-EU 3 179456143 179456143 single base substitution G C intron_variant BRCA-EU 3 179459275 179459275 single base substitution T A intron_variant BRCA-EU 3 179460209 179460209 single base substitution G A intron_variant BRCA-EU 3 179460572 179460572 single base substitution G A intron_variant BRCA-EU 3 179460916 179460916 single base substitution T A intron_variant BRCA-EU 3 179460944 179460944 single base substitution G C intron_variant BRCA-EU 3 179461244 179461244 deletion of <=200bp T - intron_variant BRCA-EU 3 179461401 179461401 single base substitution T A intron_variant BRCA-EU 3 179465197 179465197 single base substitution G A intron_variant BRCA-EU 3 179466803 179466803 deletion of <=200bp T - intron_variant BRCA-EU 3 179468634 179468634 single base substitution G A intron_variant BRCA-EU 3 179470329 179470329 single base substitution A G intron_variant BRCA-EU 3 179470735 179470735 single base substitution A G intron_variant BRCA-EU 3 179471174 179471174 single base substitution G A intron_variant BRCA-EU 3 179472601 179472601 single base substitution C A exon_variant BRCA-EU 3 179472601 179472601 single base substitution C A missense_variant P273Q 818C>A BRCA-EU 3 179472601 179472601 single base substitution C A missense_variant P562Q 1685C>A BRCA-EU 3 179472601 179472601 single base substitution C A missense_variant P627Q 1880C>A BRCA-EU 3 179472873 179472873 deletion of <=200bp T - intron_variant BRCA-EU 3 179473199 179473199 single base substitution C T intron_variant BRCA-EU 3 179475191 179475191 single base substitution G A downstream_gene_variant BRCA-EU 3 179475191 179475191 single base substitution G A intron_variant BRCA-EU 3 179476838 179476838 single base substitution C T downstream_gene_variant BRCA-EU 3 179476838 179476838 single base substitution C T intron_variant BRCA-EU 3 179477831 179477831 single base substitution A G downstream_gene_variant BRCA-EU 3 179477831 179477831 single base substitution A G intron_variant BRCA-EU 3 179478285 179478285 single base substitution A G downstream_gene_variant BRCA-EU 3 179478285 179478285 single base substitution A G intron_variant BRCA-EU 3 179478625 179478625 single base substitution A G downstream_gene_variant BRCA-EU 3 179478625 179478625 single base substitution A G intron_variant BRCA-EU 3 179479479 179479479 single base substitution T C downstream_gene_variant BRCA-EU 3 179479479 179479479 single base substitution T C intron_variant BRCA-EU 3 179480954 179480954 single base substitution G C downstream_gene_variant BRCA-EU 3 179480954 179480954 single base substitution G C intron_variant BRCA-EU 3 179481384 179481384 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 179481384 179481384 deletion of <=200bp T - intron_variant BRCA-EU 3 179481384 179481384 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 179481384 179481384 insertion of <=200bp - T intron_variant BRCA-EU 3 179482661 179482661 single base substitution C T downstream_gene_variant BRCA-EU 3 179482661 179482661 single base substitution C T intron_variant BRCA-EU 3 179482670 179482670 single base substitution G A downstream_gene_variant BRCA-EU 3 179482670 179482670 single base substitution G A intron_variant BRCA-EU 3 179484594 179484594 single base substitution C T intron_variant BRCA-EU 3 179484698 179484698 single base substitution A G intron_variant BRCA-EU 3 179484913 179484913 single base substitution C A intron_variant BRCA-EU 3 179486977 179486977 single base substitution G A intron_variant BRCA-EU 3 179487393 179487393 single base substitution C T intron_variant BRCA-EU 3 179489091 179489091 single base substitution C T intron_variant BRCA-EU 3 179491394 179491394 single base substitution A T intron_variant BRCA-EU 3 179492875 179492875 single base substitution T A intron_variant BRCA-EU 3 179493728 179493728 single base substitution C T intron_variant BRCA-EU 3 179493854 179493854 deletion of <=200bp G - intron_variant BRCA-EU 3 179493912 179493912 single base substitution G C intron_variant BRCA-EU 3 179494060 179494060 single base substitution A G intron_variant BRCA-EU 3 179494336 179494336 single base substitution C T intron_variant BRCA-EU 3 179494598 179494598 single base substitution T C intron_variant BRCA-EU 3 179496498 179496498 single base substitution G C intron_variant BRCA-EU 3 179497635 179497635 single base substitution C T intron_variant BRCA-EU 3 179497642 179497642 single base substitution G C intron_variant BRCA-EU 3 179498353 179498353 single base substitution C T intron_variant BRCA-EU 3 179499193 179499193 single base substitution C G intron_variant BRCA-EU 3 179499939 179499939 single base substitution C G intron_variant BRCA-EU 3 179500454 179500454 single base substitution A T intron_variant BRCA-EU 3 179500543 179500543 deletion of <=200bp T - intron_variant BRCA-EU 3 179501684 179501684 single base substitution C T intron_variant BRCA-EU 3 179501749 179501749 single base substitution T C intron_variant BRCA-EU 3 179503483 179503483 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 179503483 179503483 single base substitution C G downstream_gene_variant BRCA-EU 3 179504274 179504274 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 3 179504274 179504274 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 179504338 179504338 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 179504338 179504338 single base substitution C G downstream_gene_variant BRCA-EU 3 179505432 179505432 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 179505432 179505432 single base substitution G A downstream_gene_variant BRCA-EU 3 179505853 179505853 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 179505853 179505853 single base substitution G T downstream_gene_variant BRCA-EU 3 179507532 179507532 single base substitution G A downstream_gene_variant BRCA-EU 3 179508751 179508751 single base substitution A G downstream_gene_variant BRCA-EU 3 179511247 179511247 single base substitution C G downstream_gene_variant BRCA-EU 3 179511300 179511300 single base substitution C A downstream_gene_variant BRCA-EU 3 179511507 179511507 single base substitution C T downstream_gene_variant BRCA-FR 3 179369646 179369646 single base substitution C G upstream_gene_variant BRCA-FR 3 179370658 179370658 single base substitution G A 5_prime_UTR_variant BRCA-FR 3 179370658 179370658 single base substitution G A upstream_gene_variant BRCA-FR 3 179375382 179375382 single base substitution C G intron_variant BRCA-FR 3 179388164 179388164 single base substitution C T intron_variant BRCA-FR 3 179388374 179388374 single base substitution C G intron_variant BRCA-FR 3 179398438 179398438 single base substitution C T intron_variant BRCA-FR 3 179406713 179406713 single base substitution G A intron_variant BRCA-FR 3 179411114 179411114 single base substitution T A intron_variant BRCA-FR 3 179415093 179415093 single base substitution C G intron_variant BRCA-FR 3 179416714 179416714 single base substitution G C intron_variant BRCA-FR 3 179422544 179422544 single base substitution A G intron_variant BRCA-FR 3 179424102 179424102 single base substitution G C intron_variant BRCA-FR 3 179424542 179424542 single base substitution G A intron_variant BRCA-FR 3 179436041 179436041 single base substitution T G intron_variant BRCA-FR 3 179436041 179436041 single base substitution T G upstream_gene_variant BRCA-FR 3 179460572 179460572 single base substitution G A intron_variant BRCA-FR 3 179476646 179476646 single base substitution G A downstream_gene_variant BRCA-FR 3 179476646 179476646 single base substitution G A intron_variant BRCA-FR 3 179487393 179487393 single base substitution C T intron_variant BRCA-FR 3 179491394 179491394 single base substitution A T intron_variant BRCA-FR 3 179502067 179502067 single base substitution C A 3_prime_UTR_variant BRCA-FR 3 179509463 179509463 single base substitution C A downstream_gene_variant BRCA-UK 3 179418585 179418585 single base substitution C T intron_variant BRCA-UK 3 179420172 179420172 single base substitution G A intron_variant BRCA-UK 3 179439609 179439609 single base substitution C T intron_variant BRCA-UK 3 179450365 179450365 single base substitution A T intron_variant BRCA-UK 3 179469108 179469108 single base substitution C T intron_variant BRCA-US 3 179399666 179399666 single base substitution A C missense_variant N57H 169A>C BRCA-US 3 179399666 179399666 single base substitution A C splice_region_variant BRCA-US 3 179408081 179408081 deletion of <=200bp T - exon_variant BRCA-US 3 179408081 179408081 deletion of <=200bp T - frameshift_variant I116 BRCA-US 3 179408081 179408081 deletion of <=200bp T - frameshift_variant I51 BRCA-US 3 179408081 179408081 deletion of <=200bp T - intron_variant BRCA-US 3 179424844 179424844 single base substitution T C 3_prime_UTR_variant BRCA-US 3 179424844 179424844 single base substitution T C exon_variant BRCA-US 3 179424844 179424844 single base substitution T C synonymous_variant N135N 405T>C BRCA-US 3 179424844 179424844 single base substitution T C synonymous_variant N200N 600T>C BRCA-US 3 179426667 179426667 single base substitution G A downstream_gene_variant BRCA-US 3 179426667 179426667 single base substitution G A exon_variant BRCA-US 3 179426667 179426667 single base substitution G A missense_variant G178R 532G>A BRCA-US 3 179426667 179426667 single base substitution G A missense_variant G243R 727G>A BRCA-US 3 179448005 179448005 single base substitution G C exon_variant BRCA-US 3 179448005 179448005 single base substitution G C missense_variant D19H 55G>C BRCA-US 3 179448005 179448005 single base substitution G C missense_variant D308H 922G>C BRCA-US 3 179448005 179448005 single base substitution G C missense_variant D373H 1117G>C BRCA-US 3 179472637 179472637 single base substitution C A exon_variant BRCA-US 3 179472637 179472637 single base substitution C A stop_gained S285* 854C>A BRCA-US 3 179472637 179472637 single base substitution C A stop_gained S574* 1721C>A BRCA-US 3 179472637 179472637 single base substitution C A stop_gained S639* 1916C>A BRCA-US 3 179474867 179474867 single base substitution G T exon_variant BRCA-US 3 179474867 179474867 single base substitution G T intron_variant BRCA-US 3 179474867 179474867 single base substitution G T splice_donor_variant BRCA-US 3 179478911 179478911 single base substitution G C downstream_gene_variant BRCA-US 3 179478911 179478911 single base substitution G C missense_variant D291H 871G>C BRCA-US 3 179478911 179478911 single base substitution G C missense_variant D589H 1765G>C BRCA-US 3 179478911 179478911 single base substitution G C missense_variant D654H 1960G>C BRCA-US 3 179483613 179483613 single base substitution C A downstream_gene_variant BRCA-US 3 179483613 179483613 single base substitution C A missense_variant P732H 2195C>A BRCA-US 3 179483613 179483613 single base substitution C A missense_variant P797H 2390C>A BTCA-JP 3 179370921 179370921 single base substitution G T 5_prime_UTR_variant BTCA-JP 3 179370921 179370921 single base substitution G T exon_variant BTCA-JP 3 179370921 179370921 single base substitution G T upstream_gene_variant BTCA-JP 3 179448077 179448077 single base substitution T C intron_variant BTCA-JP 3 179448078 179448078 single base substitution C T intron_variant BTCA-JP 3 179470069 179470069 single base substitution C T intron_variant BTCA-JP 3 179470069 179470069 single base substitution C T splice_region_variant BTCA-JP 3 179481738 179481738 single base substitution C A downstream_gene_variant BTCA-JP 3 179481738 179481738 single base substitution C A intron_variant BTCA-JP 3 179501725 179501725 single base substitution A G intron_variant CLLE-ES 3 179366936 179366936 single base substitution T C upstream_gene_variant CLLE-ES 3 179408107 179408107 single base substitution G T intron_variant CLLE-ES 3 179430070 179430070 single base substitution A C downstream_gene_variant CLLE-ES 3 179430070 179430070 single base substitution A C intron_variant CLLE-ES 3 179432586 179432586 single base substitution C G intron_variant CLLE-ES 3 179439356 179439356 single base substitution G A exon_variant CLLE-ES 3 179439356 179439356 single base substitution G A missense_variant S291N 872G>A CLLE-ES 3 179439356 179439356 single base substitution G A missense_variant S2N 5G>A CLLE-ES 3 179439356 179439356 single base substitution G A missense_variant S356N 1067G>A CLLE-ES 3 179461677 179461677 single base substitution A T intron_variant CLLE-ES 3 179473255 179473255 single base substitution T C intron_variant CLLE-ES 3 179478032 179478032 single base substitution A G downstream_gene_variant CLLE-ES 3 179478032 179478032 single base substitution A G intron_variant CLLE-ES 3 179481951 179481951 single base substitution G C downstream_gene_variant CLLE-ES 3 179481951 179481951 single base substitution G C missense_variant A687P 2059G>C CLLE-ES 3 179481951 179481951 single base substitution G C missense_variant A752P 2254G>C CLLE-ES 3 179506294 179506294 single base substitution A G 3_prime_UTR_variant CLLE-ES 3 179506294 179506294 single base substitution A G downstream_gene_variant COAD-US 3 179408080 179408080 insertion of <=200bp - T exon_variant COAD-US 3 179408080 179408080 insertion of <=200bp - T frameshift_variant I116Y? COAD-US 3 179408080 179408080 insertion of <=200bp - T frameshift_variant I51Y? COAD-US 3 179408080 179408080 insertion of <=200bp - T intron_variant COAD-US 3 179418812 179418812 single base substitution C T 3_prime_UTR_variant COAD-US 3 179418812 179418812 single base substitution C T exon_variant COAD-US 3 179418812 179418812 single base substitution C T synonymous_variant D124D 372C>T COAD-US 3 179418812 179418812 single base substitution C T synonymous_variant D59D 177C>T COAD-US 3 179426712 179426712 single base substitution G A downstream_gene_variant COAD-US 3 179426712 179426712 single base substitution G A exon_variant COAD-US 3 179426712 179426712 single base substitution G A missense_variant V193M 577G>A COAD-US 3 179426712 179426712 single base substitution G A missense_variant V258M 772G>A COAD-US 3 179439264 179439264 single base substitution G A exon_variant COAD-US 3 179439264 179439264 single base substitution G A synonymous_variant T260T 780G>A COAD-US 3 179439264 179439264 single base substitution G A synonymous_variant T325T 975G>A COAD-US 3 179439264 179439264 single base substitution G A upstream_gene_variant COAD-US 3 179448421 179448421 single base substitution G A exon_variant COAD-US 3 179448421 179448421 single base substitution G A missense_variant G328D 983G>A COAD-US 3 179448421 179448421 single base substitution G A missense_variant G393D 1178G>A COAD-US 3 179448421 179448421 single base substitution G A missense_variant G39D 116G>A COAD-US 3 179459992 179459992 single base substitution G A exon_variant COAD-US 3 179459992 179459992 single base substitution G A missense_variant R109H 326G>A COAD-US 3 179459992 179459992 single base substitution G A missense_variant R398H 1193G>A COAD-US 3 179459992 179459992 single base substitution G A missense_variant R463H 1388G>A COAD-US 3 179472611 179472611 deletion of <=200bp C - exon_variant COAD-US 3 179472611 179472611 deletion of <=200bp C - frameshift_variant S276 COAD-US 3 179472611 179472611 deletion of <=200bp C - frameshift_variant S565 COAD-US 3 179472611 179472611 deletion of <=200bp C - frameshift_variant S630 COCA-CN 3 179367324 179367324 single base substitution T C upstream_gene_variant COCA-CN 3 179399812 179399812 single base substitution G T intron_variant COCA-CN 3 179408042 179408042 single base substitution C T exon_variant COCA-CN 3 179408042 179408042 single base substitution C T intron_variant COCA-CN 3 179408042 179408042 single base substitution C T missense_variant A103V 308C>T COCA-CN 3 179408042 179408042 single base substitution C T missense_variant A38V 113C>T COCA-CN 3 179462902 179462902 single base substitution C T missense_variant R182C 544C>T COCA-CN 3 179462902 179462902 single base substitution C T missense_variant R471C 1411C>T COCA-CN 3 179462902 179462902 single base substitution C T missense_variant R536C 1606C>T COCA-CN 3 179462902 179462902 single base substitution C T splice_region_variant COCA-CN 3 179474767 179474767 single base substitution A G intron_variant COCA-CN 3 179478938 179478938 single base substitution G A downstream_gene_variant COCA-CN 3 179478938 179478938 single base substitution G A missense_variant E598K 1792G>A COCA-CN 3 179478938 179478938 single base substitution G A missense_variant E663K 1987G>A COCA-CN 3 179478938 179478938 single base substitution G A synonymous_variant ?300 EOPC-DE 3 179405939 179405939 single base substitution G A intron_variant EOPC-DE 3 179437653 179437653 single base substitution A G intron_variant EOPC-DE 3 179437653 179437653 single base substitution A G upstream_gene_variant EOPC-DE 3 179484090 179484090 single base substitution G A intron_variant ESAD-UK 3 179366290 179366290 single base substitution G A upstream_gene_variant ESAD-UK 3 179367138 179367138 single base substitution C T upstream_gene_variant ESAD-UK 3 179369344 179369344 single base substitution G A upstream_gene_variant ESAD-UK 3 179371166 179371168 deletion of <=200bp CTC - exon_variant ESAD-UK 3 179371166 179371168 deletion of <=200bp CTC - inframe_deletion FS51F ESAD-UK 3 179371166 179371168 deletion of <=200bp CTC - upstream_gene_variant ESAD-UK 3 179372690 179372690 single base substitution G C intron_variant ESAD-UK 3 179375065 179375065 single base substitution G A intron_variant ESAD-UK 3 179378183 179378183 single base substitution C A intron_variant ESAD-UK 3 179385401 179385401 single base substitution G A intron_variant ESAD-UK 3 179385476 179385476 single base substitution C G intron_variant ESAD-UK 3 179385757 179385757 single base substitution A T intron_variant ESAD-UK 3 179386849 179386849 single base substitution A G intron_variant ESAD-UK 3 179387300 179387300 single base substitution G A intron_variant ESAD-UK 3 179387450 179387450 single base substitution T C intron_variant ESAD-UK 3 179387456 179387456 single base substitution C T intron_variant ESAD-UK 3 179388670 179388670 single base substitution G T intron_variant ESAD-UK 3 179390594 179390594 single base substitution T G intron_variant ESAD-UK 3 179392355 179392355 single base substitution G A intron_variant ESAD-UK 3 179392740 179392740 single base substitution G A intron_variant ESAD-UK 3 179396372 179396372 single base substitution C T intron_variant ESAD-UK 3 179396893 179396893 single base substitution G C intron_variant ESAD-UK 3 179397330 179397330 single base substitution G C intron_variant ESAD-UK 3 179398355 179398355 single base substitution G C intron_variant ESAD-UK 3 179398896 179398896 single base substitution C T intron_variant ESAD-UK 3 179400105 179400105 single base substitution A T intron_variant ESAD-UK 3 179401083 179401086 deletion of <=200bp TTAG - intron_variant ESAD-UK 3 179401123 179401123 insertion of <=200bp - TTT intron_variant ESAD-UK 3 179401289 179401289 single base substitution C T intron_variant ESAD-UK 3 179402847 179402847 single base substitution T C intron_variant ESAD-UK 3 179402923 179402923 single base substitution T A intron_variant ESAD-UK 3 179403092 179403092 single base substitution C G intron_variant ESAD-UK 3 179404274 179404274 single base substitution C T intron_variant ESAD-UK 3 179404476 179404476 single base substitution G T intron_variant ESAD-UK 3 179408518 179408518 single base substitution G A intron_variant ESAD-UK 3 179408550 179408550 single base substitution C T intron_variant ESAD-UK 3 179408673 179408673 single base substitution C A intron_variant ESAD-UK 3 179411106 179411106 deletion of <=200bp A - intron_variant ESAD-UK 3 179412063 179412063 single base substitution G A intron_variant ESAD-UK 3 179413408 179413408 deletion of <=200bp T - intron_variant ESAD-UK 3 179413641 179413641 single base substitution G T intron_variant ESAD-UK 3 179414605 179414605 single base substitution G T intron_variant ESAD-UK 3 179414775 179414775 deletion of <=200bp A - intron_variant ESAD-UK 3 179415155 179415155 single base substitution A G intron_variant ESAD-UK 3 179416505 179416505 single base substitution G T intron_variant ESAD-UK 3 179417534 179417534 single base substitution A T intron_variant ESAD-UK 3 179417579 179417579 insertion of <=200bp - A intron_variant ESAD-UK 3 179417580 179417580 insertion of <=200bp - TTA intron_variant ESAD-UK 3 179419680 179419680 single base substitution C T intron_variant ESAD-UK 3 179422242 179422242 single base substitution T G intron_variant ESAD-UK 3 179422340 179422340 single base substitution G A intron_variant ESAD-UK 3 179423102 179423102 insertion of <=200bp - TTAG intron_variant ESAD-UK 3 179424106 179424106 single base substitution G T intron_variant ESAD-UK 3 179424398 179424398 single base substitution C T intron_variant ESAD-UK 3 179424786 179424786 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 179424786 179424786 single base substitution C T exon_variant ESAD-UK 3 179424786 179424786 single base substitution C T missense_variant T116M 347C>T ESAD-UK 3 179424786 179424786 single base substitution C T missense_variant T181M 542C>T ESAD-UK 3 179425918 179425918 single base substitution C G intron_variant ESAD-UK 3 179426329 179426329 single base substitution C A intron_variant ESAD-UK 3 179426330 179426330 single base substitution C T intron_variant ESAD-UK 3 179426589 179426589 single base substitution C T downstream_gene_variant ESAD-UK 3 179426589 179426589 single base substitution C T exon_variant ESAD-UK 3 179426589 179426589 single base substitution C T stop_gained R152* 454C>T ESAD-UK 3 179426589 179426589 single base substitution C T stop_gained R217* 649C>T ESAD-UK 3 179426939 179426939 single base substitution T C downstream_gene_variant ESAD-UK 3 179426939 179426939 single base substitution T C intron_variant ESAD-UK 3 179427433 179427433 single base substitution T A downstream_gene_variant ESAD-UK 3 179427433 179427433 single base substitution T A intron_variant ESAD-UK 3 179427924 179427924 single base substitution C A downstream_gene_variant ESAD-UK 3 179427924 179427924 single base substitution C A intron_variant ESAD-UK 3 179429313 179429313 single base substitution A T downstream_gene_variant ESAD-UK 3 179429313 179429313 single base substitution A T intron_variant ESAD-UK 3 179430353 179430353 single base substitution C A downstream_gene_variant ESAD-UK 3 179430353 179430353 single base substitution C A intron_variant ESAD-UK 3 179430835 179430835 single base substitution T G downstream_gene_variant ESAD-UK 3 179430835 179430835 single base substitution T G intron_variant ESAD-UK 3 179433858 179433858 single base substitution A T intron_variant ESAD-UK 3 179434877 179434877 single base substitution A C intron_variant ESAD-UK 3 179434877 179434877 single base substitution A C upstream_gene_variant ESAD-UK 3 179435835 179435835 single base substitution C T intron_variant ESAD-UK 3 179435835 179435835 single base substitution C T upstream_gene_variant ESAD-UK 3 179436320 179436320 single base substitution C A intron_variant ESAD-UK 3 179436320 179436320 single base substitution C A upstream_gene_variant ESAD-UK 3 179436419 179436419 single base substitution G C intron_variant ESAD-UK 3 179436419 179436419 single base substitution G C upstream_gene_variant ESAD-UK 3 179437251 179437251 single base substitution A C intron_variant ESAD-UK 3 179437251 179437251 single base substitution A C upstream_gene_variant ESAD-UK 3 179437879 179437879 single base substitution G T intron_variant ESAD-UK 3 179437879 179437879 single base substitution G T upstream_gene_variant ESAD-UK 3 179439781 179439781 single base substitution G A intron_variant ESAD-UK 3 179440524 179440524 single base substitution T C intron_variant ESAD-UK 3 179442834 179442834 single base substitution C T intron_variant ESAD-UK 3 179443030 179443030 single base substitution C G intron_variant ESAD-UK 3 179443245 179443245 single base substitution G T intron_variant ESAD-UK 3 179443366 179443366 single base substitution A C intron_variant ESAD-UK 3 179444370 179444370 single base substitution C A intron_variant ESAD-UK 3 179446606 179446606 deletion of <=200bp A - intron_variant ESAD-UK 3 179447037 179447037 single base substitution C G intron_variant ESAD-UK 3 179447498 179447498 single base substitution G T intron_variant ESAD-UK 3 179450449 179450449 single base substitution G T intron_variant ESAD-UK 3 179451924 179451924 single base substitution C G intron_variant ESAD-UK 3 179452251 179452251 single base substitution C T intron_variant ESAD-UK 3 179453661 179453661 single base substitution A T intron_variant ESAD-UK 3 179453719 179453719 single base substitution T G intron_variant ESAD-UK 3 179455470 179455470 single base substitution C T intron_variant ESAD-UK 3 179455589 179455589 single base substitution G A intron_variant ESAD-UK 3 179460041 179460041 single base substitution A C exon_variant ESAD-UK 3 179460041 179460041 single base substitution A C missense_variant E125D 375A>C ESAD-UK 3 179460041 179460041 single base substitution A C missense_variant E414D 1242A>C ESAD-UK 3 179460041 179460041 single base substitution A C missense_variant E479D 1437A>C ESAD-UK 3 179460043 179460043 single base substitution G T exon_variant ESAD-UK 3 179460043 179460043 single base substitution G T missense_variant R126L 377G>T ESAD-UK 3 179460043 179460043 single base substitution G T missense_variant R415L 1244G>T ESAD-UK 3 179460043 179460043 single base substitution G T missense_variant R480L 1439G>T ESAD-UK 3 179460057 179460057 single base substitution C A exon_variant ESAD-UK 3 179460057 179460057 single base substitution C A missense_variant Q131K 391C>A ESAD-UK 3 179460057 179460057 single base substitution C A missense_variant Q420K 1258C>A ESAD-UK 3 179460057 179460057 single base substitution C A missense_variant Q485K 1453C>A ESAD-UK 3 179460956 179460956 single base substitution C T intron_variant ESAD-UK 3 179461106 179461106 single base substitution C T intron_variant ESAD-UK 3 179462143 179462143 single base substitution G T intron_variant ESAD-UK 3 179463966 179463967 deletion of <=200bp TA - intron_variant ESAD-UK 3 179464502 179464502 single base substitution A T intron_variant ESAD-UK 3 179464537 179464537 single base substitution G A intron_variant ESAD-UK 3 179464828 179464830 deletion of <=200bp TAG - intron_variant ESAD-UK 3 179464867 179464867 single base substitution A G intron_variant ESAD-UK 3 179465847 179465847 single base substitution C A intron_variant ESAD-UK 3 179466020 179466020 single base substitution A G intron_variant ESAD-UK 3 179469423 179469423 single base substitution T A intron_variant ESAD-UK 3 179470297 179470297 single base substitution A T intron_variant ESAD-UK 3 179470359 179470359 single base substitution A T intron_variant ESAD-UK 3 179471782 179471782 single base substitution C T intron_variant ESAD-UK 3 179472201 179472201 single base substitution A C intron_variant ESAD-UK 3 179472511 179472511 single base substitution A G intron_variant ESAD-UK 3 179476840 179476840 single base substitution G T downstream_gene_variant ESAD-UK 3 179476840 179476840 single base substitution G T intron_variant ESAD-UK 3 179477523 179477523 single base substitution G A downstream_gene_variant ESAD-UK 3 179477523 179477523 single base substitution G A intron_variant ESAD-UK 3 179477534 179477534 single base substitution C T downstream_gene_variant ESAD-UK 3 179477534 179477534 single base substitution C T intron_variant ESAD-UK 3 179477943 179477943 single base substitution G T downstream_gene_variant ESAD-UK 3 179477943 179477943 single base substitution G T intron_variant ESAD-UK 3 179478458 179478458 single base substitution G C downstream_gene_variant ESAD-UK 3 179478458 179478458 single base substitution G C intron_variant ESAD-UK 3 179478729 179478729 single base substitution G A downstream_gene_variant ESAD-UK 3 179478729 179478729 single base substitution G A intron_variant ESAD-UK 3 179479213 179479213 single base substitution T A downstream_gene_variant ESAD-UK 3 179479213 179479213 single base substitution T A intron_variant ESAD-UK 3 179479316 179479316 single base substitution C T downstream_gene_variant ESAD-UK 3 179479316 179479316 single base substitution C T intron_variant ESAD-UK 3 179479526 179479526 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 179479526 179479526 insertion of <=200bp - A intron_variant ESAD-UK 3 179484742 179484742 single base substitution T C intron_variant ESAD-UK 3 179484923 179484923 single base substitution C T intron_variant ESAD-UK 3 179485037 179485037 single base substitution T A intron_variant ESAD-UK 3 179485699 179485699 deletion of <=200bp T - intron_variant ESAD-UK 3 179486105 179486105 single base substitution G C intron_variant ESAD-UK 3 179486950 179486950 single base substitution G A intron_variant ESAD-UK 3 179486952 179486952 single base substitution A C intron_variant ESAD-UK 3 179487381 179487381 single base substitution G C intron_variant ESAD-UK 3 179487489 179487489 single base substitution G A intron_variant ESAD-UK 3 179489012 179489012 single base substitution C A intron_variant ESAD-UK 3 179490103 179490103 single base substitution A C intron_variant ESAD-UK 3 179490136 179490136 single base substitution A G intron_variant ESAD-UK 3 179491895 179491895 single base substitution G A intron_variant ESAD-UK 3 179492433 179492433 single base substitution G C intron_variant ESAD-UK 3 179493007 179493007 single base substitution C T intron_variant ESAD-UK 3 179494509 179494509 single base substitution C G intron_variant ESAD-UK 3 179495721 179495721 single base substitution A G intron_variant ESAD-UK 3 179495806 179495806 single base substitution A G intron_variant ESAD-UK 3 179496346 179496346 single base substitution G A intron_variant ESAD-UK 3 179496990 179496990 single base substitution G C intron_variant ESAD-UK 3 179501280 179501280 single base substitution G T intron_variant ESAD-UK 3 179501346 179501346 single base substitution C T intron_variant ESAD-UK 3 179501359 179501359 single base substitution T C intron_variant ESAD-UK 3 179503199 179503199 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 179503199 179503199 single base substitution A G downstream_gene_variant ESAD-UK 3 179503847 179503847 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 179503847 179503847 single base substitution C T downstream_gene_variant ESAD-UK 3 179505366 179505366 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 179505366 179505366 single base substitution T C downstream_gene_variant ESAD-UK 3 179505538 179505538 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 179505538 179505538 single base substitution C T downstream_gene_variant ESAD-UK 3 179505546 179505546 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 179505546 179505546 single base substitution C T downstream_gene_variant ESAD-UK 3 179506642 179506642 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 179506642 179506642 single base substitution C T downstream_gene_variant ESAD-UK 3 179507072 179507072 single base substitution C A 3_prime_UTR_variant ESAD-UK 3 179507072 179507072 single base substitution C A downstream_gene_variant ESAD-UK 3 179509349 179509349 single base substitution G A downstream_gene_variant ESAD-UK 3 179510127 179510127 single base substitution G T downstream_gene_variant ESAD-UK 3 179510128 179510128 single base substitution A T downstream_gene_variant ESAD-UK 3 179510743 179510743 single base substitution T A downstream_gene_variant ESAD-UK 3 179512157 179512157 single base substitution C T downstream_gene_variant ESCA-CN 3 179371177 179371177 single base substitution C T exon_variant ESCA-CN 3 179371177 179371177 single base substitution C T missense_variant S55F 164C>T ESCA-CN 3 179371177 179371177 single base substitution C T upstream_gene_variant ESCA-CN 3 179418877 179418877 single base substitution A C 3_prime_UTR_variant ESCA-CN 3 179418877 179418877 single base substitution A C exon_variant ESCA-CN 3 179418877 179418877 single base substitution A C missense_variant Y146S 437A>C ESCA-CN 3 179418877 179418877 single base substitution A C missense_variant Y81S 242A>C ESCA-CN 3 179424829 179424829 single base substitution C T 3_prime_UTR_variant ESCA-CN 3 179424829 179424829 single base substitution C T exon_variant ESCA-CN 3 179424829 179424829 single base substitution C T synonymous_variant L130L 390C>T ESCA-CN 3 179424829 179424829 single base substitution C T synonymous_variant L195L 585C>T ESCA-CN 3 179458119 179458119 single base substitution G T exon_variant ESCA-CN 3 179458119 179458119 single base substitution G T missense_variant D382Y 1144G>T ESCA-CN 3 179458119 179458119 single base substitution G T missense_variant D447Y 1339G>T ESCA-CN 3 179458119 179458119 single base substitution G T missense_variant D93Y 277G>T ESCA-CN 3 179472564 179472564 single base substitution C T exon_variant ESCA-CN 3 179472564 179472564 single base substitution C T stop_gained R261* 781C>T ESCA-CN 3 179472564 179472564 single base substitution C T stop_gained R550* 1648C>T ESCA-CN 3 179472564 179472564 single base substitution C T stop_gained R615* 1843C>T ESCA-CN 3 179499551 179499551 deletion of <=200bp G - frameshift_variant S748 ESCA-CN 3 179499551 179499551 deletion of <=200bp G - frameshift_variant S813 ESCA-CN 3 179501981 179501981 insertion of <=200bp - A 3_prime_UTR_variant KIRP-US 3 179426711 179426711 single base substitution C A downstream_gene_variant KIRP-US 3 179426711 179426711 single base substitution C A exon_variant KIRP-US 3 179426711 179426711 single base substitution C A synonymous_variant A192A 576C>A KIRP-US 3 179426711 179426711 single base substitution C A synonymous_variant A257A 771C>A KIRP-US 3 179462840 179462840 single base substitution T A exon_variant KIRP-US 3 179462840 179462840 single base substitution T A missense_variant I161N 482T>A KIRP-US 3 179462840 179462840 single base substitution T A missense_variant I450N 1349T>A KIRP-US 3 179462840 179462840 single base substitution T A missense_variant I515N 1544T>A LAML-KR 3 179402078 179402078 single base substitution C G intron_variant LAML-KR 3 179405977 179405977 single base substitution T C intron_variant LAML-KR 3 179445380 179445380 single base substitution C G intron_variant LAML-KR 3 179445388 179445388 single base substitution C T intron_variant LAML-KR 3 179448172 179448172 single base substitution A C intron_variant LAML-KR 3 179481772 179481772 single base substitution T G downstream_gene_variant LAML-KR 3 179481772 179481772 single base substitution T G intron_variant LAML-KR 3 179483384 179483384 single base substitution C A downstream_gene_variant LAML-KR 3 179483384 179483384 single base substitution C A intron_variant LICA-CN 3 179399696 179399696 single base substitution A T exon_variant LICA-CN 3 179399696 179399696 single base substitution A T missense_variant N2Y 4A>T LICA-CN 3 179399696 179399696 single base substitution A T missense_variant N67Y 199A>T LICA-CN 3 179399755 179399755 single base substitution G A exon_variant LICA-CN 3 179399755 179399755 single base substitution G A synonymous_variant Q21Q 63G>A LICA-CN 3 179399755 179399755 single base substitution G A synonymous_variant Q86Q 258G>A LICA-CN 3 179463008 179463008 single base substitution A T intron_variant LICA-CN 3 179463008 179463008 single base substitution A T splice_region_variant LICA-FR 3 179366713 179366713 single base substitution A G upstream_gene_variant LICA-FR 3 179368934 179368934 single base substitution T A upstream_gene_variant LICA-FR 3 179371501 179371501 single base substitution G A 5_prime_UTR_variant LICA-FR 3 179371501 179371501 single base substitution G A intron_variant LICA-FR 3 179432659 179432659 insertion of <=200bp - TT intron_variant LICA-FR 3 179439854 179439857 deletion of <=200bp AAAA - intron_variant LICA-FR 3 179442711 179442711 single base substitution G A intron_variant LICA-FR 3 179455638 179455638 single base substitution A G intron_variant LICA-FR 3 179460126 179460126 single base substitution G A exon_variant LICA-FR 3 179460126 179460126 single base substitution G A missense_variant A154T 460G>A LICA-FR 3 179460126 179460126 single base substitution G A missense_variant A443T 1327G>A LICA-FR 3 179460126 179460126 single base substitution G A missense_variant A508T 1522G>A LICA-FR 3 179462893 179462893 single base substitution G C exon_variant LICA-FR 3 179462893 179462893 single base substitution G C missense_variant E179Q 535G>C LICA-FR 3 179462893 179462893 single base substitution G C missense_variant E468Q 1402G>C LICA-FR 3 179462893 179462893 single base substitution G C missense_variant E533Q 1597G>C LICA-FR 3 179468108 179468108 single base substitution A G intron_variant LICA-FR 3 179472623 179472623 single base substitution C A exon_variant LICA-FR 3 179472623 179472623 single base substitution C A synonymous_variant V280V 840C>A LICA-FR 3 179472623 179472623 single base substitution C A synonymous_variant V569V 1707C>A LICA-FR 3 179472623 179472623 single base substitution C A synonymous_variant V634V 1902C>A LICA-FR 3 179475765 179475765 deletion of <=200bp G - downstream_gene_variant LICA-FR 3 179475765 179475765 deletion of <=200bp G - intron_variant LICA-FR 3 179477140 179477140 single base substitution T A downstream_gene_variant LICA-FR 3 179477140 179477140 single base substitution T A intron_variant LICA-FR 3 179480641 179480641 single base substitution C A downstream_gene_variant LICA-FR 3 179480641 179480641 single base substitution C A intron_variant LICA-FR 3 179495232 179495233 deletion of <=200bp TT - intron_variant LICA-FR 3 179497508 179497508 deletion of <=200bp A - intron_variant LICA-FR 3 179499534 179499534 single base substitution G A synonymous_variant E742E 2226G>A LICA-FR 3 179499534 179499534 single base substitution G A synonymous_variant E807E 2421G>A LICA-FR 3 179499571 179499571 single base substitution A G missense_variant M755V 2263A>G LICA-FR 3 179499571 179499571 single base substitution A G missense_variant M820V 2458A>G LINC-JP 3 179378694 179378694 single base substitution A G intron_variant LINC-JP 3 179384412 179384412 single base substitution T A intron_variant LINC-JP 3 179411548 179411548 single base substitution G T intron_variant LINC-JP 3 179416674 179416674 single base substitution C T intron_variant LINC-JP 3 179420271 179420271 single base substitution A T intron_variant LINC-JP 3 179424685 179424685 single base substitution A C intron_variant LINC-JP 3 179424690 179424690 single base substitution T G intron_variant LINC-JP 3 179436053 179436053 deletion of <=200bp T - intron_variant LINC-JP 3 179436053 179436053 deletion of <=200bp T - upstream_gene_variant LINC-JP 3 179448405 179448405 single base substitution A G missense_variant T323A 967A>G LINC-JP 3 179448405 179448405 single base substitution A G missense_variant T34A 100A>G LINC-JP 3 179448405 179448405 single base substitution A G missense_variant T388A 1162A>G LINC-JP 3 179448405 179448405 single base substitution A G splice_region_variant LINC-JP 3 179448436 179448436 single base substitution A T exon_variant LINC-JP 3 179448436 179448436 single base substitution A T missense_variant Q333L 998A>T LINC-JP 3 179448436 179448436 single base substitution A T missense_variant Q398L 1193A>T LINC-JP 3 179448436 179448436 single base substitution A T missense_variant Q44L 131A>T LINC-JP 3 179457642 179457642 single base substitution T C intron_variant LINC-JP 3 179458871 179458871 insertion of <=200bp - T intron_variant LINC-JP 3 179462984 179462984 single base substitution A G intron_variant LINC-JP 3 179462984 179462984 single base substitution A G missense_variant Q209R 626A>G LINC-JP 3 179462984 179462984 single base substitution A G missense_variant Q498R 1493A>G LINC-JP 3 179462984 179462984 single base substitution A G missense_variant Q563R 1688A>G LINC-JP 3 179466942 179466942 single base substitution A T intron_variant LINC-JP 3 179475633 179475633 single base substitution G A downstream_gene_variant LINC-JP 3 179475633 179475633 single base substitution G A intron_variant LINC-JP 3 179476104 179476104 single base substitution G T downstream_gene_variant LINC-JP 3 179476104 179476104 single base substitution G T intron_variant LINC-JP 3 179481738 179481738 single base substitution C A downstream_gene_variant LINC-JP 3 179481738 179481738 single base substitution C A intron_variant LINC-JP 3 179483780 179483780 single base substitution C T downstream_gene_variant LINC-JP 3 179483780 179483780 single base substitution C T intron_variant LINC-JP 3 179484662 179484662 insertion of <=200bp - T intron_variant LINC-JP 3 179498494 179498494 single base substitution A C intron_variant LINC-JP 3 179499645 179499645 single base substitution G A intron_variant LINC-JP 3 179507834 179507834 single base substitution C T downstream_gene_variant LINC-JP 3 179511205 179511205 single base substitution A G downstream_gene_variant LIRI-JP 3 179366117 179366117 single base substitution A C upstream_gene_variant LIRI-JP 3 179370218 179370218 single base substitution T C upstream_gene_variant LIRI-JP 3 179373505 179373505 single base substitution G A intron_variant LIRI-JP 3 179373797 179373797 single base substitution A G intron_variant LIRI-JP 3 179375378 179375378 single base substitution G A intron_variant LIRI-JP 3 179379042 179379042 single base substitution A C intron_variant LIRI-JP 3 179381784 179381784 single base substitution G T intron_variant LIRI-JP 3 179384300 179384300 single base substitution C G intron_variant LIRI-JP 3 179384982 179384982 single base substitution A C intron_variant LIRI-JP 3 179388278 179388278 single base substitution G A intron_variant LIRI-JP 3 179388279 179388279 single base substitution A G intron_variant LIRI-JP 3 179388823 179388823 single base substitution T C intron_variant LIRI-JP 3 179389319 179389319 single base substitution A G intron_variant LIRI-JP 3 179390640 179390640 single base substitution T A intron_variant LIRI-JP 3 179391673 179391673 single base substitution G A intron_variant LIRI-JP 3 179399809 179399809 single base substitution A G intron_variant LIRI-JP 3 179404253 179404253 single base substitution C A intron_variant LIRI-JP 3 179406233 179406233 single base substitution A G intron_variant LIRI-JP 3 179406934 179406934 single base substitution G A intron_variant LIRI-JP 3 179407020 179407020 single base substitution A C intron_variant LIRI-JP 3 179407125 179407125 single base substitution G A intron_variant LIRI-JP 3 179407711 179407711 single base substitution G A intron_variant LIRI-JP 3 179408368 179408368 single base substitution T C intron_variant LIRI-JP 3 179408555 179408555 single base substitution T C intron_variant LIRI-JP 3 179410118 179410118 single base substitution T C intron_variant LIRI-JP 3 179411910 179411910 single base substitution C T intron_variant LIRI-JP 3 179413577 179413577 single base substitution C G intron_variant LIRI-JP 3 179414137 179414137 single base substitution A T intron_variant LIRI-JP 3 179415472 179415472 single base substitution G T intron_variant LIRI-JP 3 179417437 179417437 single base substitution A G intron_variant LIRI-JP 3 179418332 179418332 single base substitution T C intron_variant LIRI-JP 3 179420126 179420126 single base substitution C T intron_variant LIRI-JP 3 179420511 179420511 single base substitution A T intron_variant LIRI-JP 3 179422542 179422542 single base substitution G A intron_variant LIRI-JP 3 179423121 179423121 single base substitution A C intron_variant LIRI-JP 3 179423931 179423931 single base substitution T C intron_variant LIRI-JP 3 179424607 179424607 single base substitution C A intron_variant LIRI-JP 3 179425546 179425546 single base substitution G T intron_variant LIRI-JP 3 179431812 179431812 single base substitution A G intron_variant LIRI-JP 3 179432058 179432058 single base substitution C A intron_variant LIRI-JP 3 179434456 179434456 single base substitution C G intron_variant LIRI-JP 3 179434456 179434456 single base substitution C G upstream_gene_variant LIRI-JP 3 179434987 179434987 single base substitution A G intron_variant LIRI-JP 3 179434987 179434987 single base substitution A G upstream_gene_variant LIRI-JP 3 179435946 179435946 single base substitution A G intron_variant LIRI-JP 3 179435946 179435946 single base substitution A G upstream_gene_variant LIRI-JP 3 179436785 179436785 single base substitution C T intron_variant LIRI-JP 3 179436785 179436785 single base substitution C T upstream_gene_variant LIRI-JP 3 179436874 179436874 single base substitution G A intron_variant LIRI-JP 3 179436874 179436874 single base substitution G A upstream_gene_variant LIRI-JP 3 179437060 179437060 single base substitution A T intron_variant LIRI-JP 3 179437060 179437060 single base substitution A T upstream_gene_variant LIRI-JP 3 179437986 179437986 single base substitution A G intron_variant LIRI-JP 3 179437986 179437986 single base substitution A G upstream_gene_variant LIRI-JP 3 179439977 179439977 single base substitution A G intron_variant LIRI-JP 3 179441269 179441269 single base substitution A G intron_variant LIRI-JP 3 179441819 179441819 single base substitution A T intron_variant LIRI-JP 3 179442513 179442513 single base substitution T G intron_variant LIRI-JP 3 179444657 179444657 single base substitution A G intron_variant LIRI-JP 3 179448013 179448013 single base substitution G T exon_variant LIRI-JP 3 179448013 179448013 single base substitution G T synonymous_variant S21S 63G>T LIRI-JP 3 179448013 179448013 single base substitution G T synonymous_variant S310S 930G>T LIRI-JP 3 179448013 179448013 single base substitution G T synonymous_variant S375S 1125G>T LIRI-JP 3 179450863 179450863 single base substitution A G intron_variant LIRI-JP 3 179454228 179454228 single base substitution A G intron_variant LIRI-JP 3 179455979 179455979 single base substitution A G intron_variant LIRI-JP 3 179456606 179456606 single base substitution A T intron_variant LIRI-JP 3 179456686 179456686 single base substitution G A intron_variant LIRI-JP 3 179457090 179457090 single base substitution C T intron_variant LIRI-JP 3 179457553 179457553 single base substitution G A intron_variant LIRI-JP 3 179457791 179457791 single base substitution C A intron_variant LIRI-JP 3 179457842 179457842 single base substitution T C intron_variant LIRI-JP 3 179459217 179459217 single base substitution C G intron_variant LIRI-JP 3 179459500 179459500 single base substitution T C intron_variant LIRI-JP 3 179462689 179462689 single base substitution G A intron_variant LIRI-JP 3 179462834 179462834 single base substitution A T exon_variant LIRI-JP 3 179462834 179462834 single base substitution A T missense_variant E159V 476A>T LIRI-JP 3 179462834 179462834 single base substitution A T missense_variant E448V 1343A>T LIRI-JP 3 179462834 179462834 single base substitution A T missense_variant E513V 1538A>T LIRI-JP 3 179466785 179466785 single base substitution C A intron_variant LIRI-JP 3 179467102 179467102 single base substitution A G intron_variant LIRI-JP 3 179468816 179468816 single base substitution T A intron_variant LIRI-JP 3 179468960 179468960 single base substitution G A intron_variant LIRI-JP 3 179469958 179469958 single base substitution C T intron_variant LIRI-JP 3 179473045 179473045 single base substitution A G intron_variant LIRI-JP 3 179474399 179474399 single base substitution C A intron_variant LIRI-JP 3 179477234 179477234 single base substitution C A downstream_gene_variant LIRI-JP 3 179477234 179477234 single base substitution C A intron_variant LIRI-JP 3 179477451 179477451 single base substitution A G downstream_gene_variant LIRI-JP 3 179477451 179477451 single base substitution A G intron_variant LIRI-JP 3 179478041 179478041 insertion of <=200bp - G downstream_gene_variant LIRI-JP 3 179478041 179478041 insertion of <=200bp - G intron_variant LIRI-JP 3 179480597 179480597 single base substitution G T downstream_gene_variant LIRI-JP 3 179480597 179480597 single base substitution G T intron_variant LIRI-JP 3 179484297 179484297 single base substitution C G intron_variant LIRI-JP 3 179484680 179484680 single base substitution T G intron_variant LIRI-JP 3 179484876 179484876 single base substitution C T intron_variant LIRI-JP 3 179485370 179485370 single base substitution G A intron_variant LIRI-JP 3 179486689 179486689 single base substitution T C intron_variant LIRI-JP 3 179486832 179486832 single base substitution A G intron_variant LIRI-JP 3 179489985 179489985 single base substitution T C intron_variant LIRI-JP 3 179490586 179490586 single base substitution A G intron_variant LIRI-JP 3 179490727 179490727 single base substitution C A intron_variant LIRI-JP 3 179491534 179491534 single base substitution A G intron_variant LIRI-JP 3 179491779 179491779 single base substitution G A intron_variant LIRI-JP 3 179493131 179493131 single base substitution C A intron_variant LIRI-JP 3 179493769 179493769 single base substitution A T intron_variant LIRI-JP 3 179497173 179497173 single base substitution T C intron_variant LIRI-JP 3 179497326 179497326 single base substitution A G intron_variant LIRI-JP 3 179498083 179498083 single base substitution C G intron_variant LIRI-JP 3 179498280 179498280 single base substitution A C intron_variant LIRI-JP 3 179498597 179498597 single base substitution G C intron_variant LIRI-JP 3 179499613 179499613 single base substitution T C splice_donor_variant LIRI-JP 3 179502358 179502358 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 179502358 179502358 single base substitution A G downstream_gene_variant LIRI-JP 3 179502486 179502486 single base substitution T G 3_prime_UTR_variant LIRI-JP 3 179502486 179502486 single base substitution T G downstream_gene_variant LIRI-JP 3 179504154 179504154 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 179504154 179504154 single base substitution A G downstream_gene_variant LIRI-JP 3 179504638 179504638 single base substitution C G 3_prime_UTR_variant LIRI-JP 3 179504638 179504638 single base substitution C G downstream_gene_variant LIRI-JP 3 179507775 179507775 single base substitution C T downstream_gene_variant LIRI-JP 3 179507990 179507990 single base substitution A G downstream_gene_variant LIRI-JP 3 179509075 179509075 single base substitution A G downstream_gene_variant LIRI-JP 3 179509216 179509216 single base substitution A T downstream_gene_variant LIRI-JP 3 179511353 179511353 single base substitution C T downstream_gene_variant LUSC-CN 3 179506017 179506017 single base substitution C T 3_prime_UTR_variant LUSC-CN 3 179506017 179506017 single base substitution C T downstream_gene_variant LUSC-KR 3 179366720 179366720 single base substitution C G upstream_gene_variant LUSC-KR 3 179366955 179366955 single base substitution C T upstream_gene_variant LUSC-KR 3 179368144 179368144 single base substitution G A upstream_gene_variant LUSC-KR 3 179370194 179370194 single base substitution G A upstream_gene_variant LUSC-KR 3 179371670 179371670 single base substitution G C intron_variant LUSC-KR 3 179372446 179372446 single base substitution G T intron_variant LUSC-KR 3 179375859 179375859 single base substitution C T intron_variant LUSC-KR 3 179377070 179377070 single base substitution C T intron_variant LUSC-KR 3 179378415 179378415 single base substitution C T intron_variant LUSC-KR 3 179381425 179381425 single base substitution G T intron_variant LUSC-KR 3 179383299 179383299 single base substitution T C intron_variant LUSC-KR 3 179386996 179386996 single base substitution C A intron_variant LUSC-KR 3 179388464 179388464 single base substitution G T intron_variant LUSC-KR 3 179388465 179388465 single base substitution C T intron_variant LUSC-KR 3 179390051 179390051 single base substitution G T intron_variant LUSC-KR 3 179392487 179392487 single base substitution C A intron_variant LUSC-KR 3 179394262 179394262 single base substitution A T intron_variant LUSC-KR 3 179395445 179395445 single base substitution G T intron_variant LUSC-KR 3 179398853 179398853 single base substitution C T intron_variant LUSC-KR 3 179398984 179398984 single base substitution C T intron_variant LUSC-KR 3 179399267 179399267 single base substitution A T intron_variant LUSC-KR 3 179399573 179399573 single base substitution C T intron_variant LUSC-KR 3 179400021 179400021 single base substitution A G intron_variant LUSC-KR 3 179402078 179402078 single base substitution C G intron_variant LUSC-KR 3 179403500 179403500 single base substitution T C intron_variant LUSC-KR 3 179404421 179404421 single base substitution C A intron_variant LUSC-KR 3 179404637 179404637 single base substitution C T intron_variant LUSC-KR 3 179404811 179404811 single base substitution C T intron_variant LUSC-KR 3 179405939 179405939 single base substitution G A intron_variant LUSC-KR 3 179406087 179406087 single base substitution C T intron_variant LUSC-KR 3 179406088 179406088 single base substitution C T intron_variant LUSC-KR 3 179407823 179407823 single base substitution A G intron_variant LUSC-KR 3 179408441 179408441 single base substitution A C intron_variant LUSC-KR 3 179409404 179409404 single base substitution C G intron_variant LUSC-KR 3 179410023 179410023 single base substitution C G intron_variant LUSC-KR 3 179411309 179411309 single base substitution C G intron_variant LUSC-KR 3 179416495 179416495 single base substitution C T intron_variant LUSC-KR 3 179420087 179420087 single base substitution G T intron_variant LUSC-KR 3 179421702 179421702 single base substitution C T intron_variant LUSC-KR 3 179422947 179422947 single base substitution T C intron_variant LUSC-KR 3 179425103 179425103 single base substitution G A intron_variant LUSC-KR 3 179427105 179427105 single base substitution G T downstream_gene_variant LUSC-KR 3 179427105 179427105 single base substitution G T intron_variant LUSC-KR 3 179428473 179428473 single base substitution G C downstream_gene_variant LUSC-KR 3 179428473 179428473 single base substitution G C intron_variant LUSC-KR 3 179428814 179428814 single base substitution T C downstream_gene_variant LUSC-KR 3 179428814 179428814 single base substitution T C intron_variant LUSC-KR 3 179430866 179430866 single base substitution G C downstream_gene_variant LUSC-KR 3 179430866 179430866 single base substitution G C intron_variant LUSC-KR 3 179431812 179431812 single base substitution A T intron_variant LUSC-KR 3 179432171 179432171 single base substitution T C intron_variant LUSC-KR 3 179433749 179433749 single base substitution G A intron_variant LUSC-KR 3 179433766 179433766 single base substitution G A intron_variant LUSC-KR 3 179437789 179437789 single base substitution G A exon_variant LUSC-KR 3 179437789 179437789 single base substitution G A synonymous_variant A224A 672G>A LUSC-KR 3 179437789 179437789 single base substitution G A synonymous_variant A289A 867G>A LUSC-KR 3 179437789 179437789 single base substitution G A upstream_gene_variant LUSC-KR 3 179437957 179437957 single base substitution G T intron_variant LUSC-KR 3 179437957 179437957 single base substitution G T upstream_gene_variant LUSC-KR 3 179438291 179438291 single base substitution C T intron_variant LUSC-KR 3 179438291 179438291 single base substitution C T upstream_gene_variant LUSC-KR 3 179438681 179438681 single base substitution C T intron_variant LUSC-KR 3 179438681 179438681 single base substitution C T upstream_gene_variant LUSC-KR 3 179438830 179438830 single base substitution C T intron_variant LUSC-KR 3 179438830 179438830 single base substitution C T upstream_gene_variant LUSC-KR 3 179439090 179439090 single base substitution A T intron_variant LUSC-KR 3 179439090 179439090 single base substitution A T upstream_gene_variant LUSC-KR 3 179439478 179439478 single base substitution G A intron_variant LUSC-KR 3 179440047 179440047 single base substitution C G intron_variant LUSC-KR 3 179442607 179442607 single base substitution G C intron_variant LUSC-KR 3 179442733 179442733 single base substitution C T intron_variant LUSC-KR 3 179442806 179442806 single base substitution G C intron_variant LUSC-KR 3 179443597 179443597 single base substitution A T intron_variant LUSC-KR 3 179444245 179444245 single base substitution G A intron_variant LUSC-KR 3 179444977 179444977 single base substitution G A intron_variant LUSC-KR 3 179445388 179445388 single base substitution C T intron_variant LUSC-KR 3 179445703 179445703 single base substitution A G intron_variant LUSC-KR 3 179446031 179446031 single base substitution G A intron_variant LUSC-KR 3 179449520 179449520 single base substitution A G intron_variant LUSC-KR 3 179449572 179449572 single base substitution G T intron_variant LUSC-KR 3 179451395 179451395 single base substitution A T intron_variant LUSC-KR 3 179455826 179455826 single base substitution C T intron_variant LUSC-KR 3 179457079 179457079 single base substitution G T intron_variant LUSC-KR 3 179459403 179459403 single base substitution C T intron_variant LUSC-KR 3 179459500 179459500 single base substitution T C intron_variant LUSC-KR 3 179462833 179462833 single base substitution G A missense_variant E159K 475G>A LUSC-KR 3 179462833 179462833 single base substitution G A missense_variant E448K 1342G>A LUSC-KR 3 179462833 179462833 single base substitution G A missense_variant E513K 1537G>A LUSC-KR 3 179462833 179462833 single base substitution G A splice_region_variant LUSC-KR 3 179463363 179463363 single base substitution A C intron_variant LUSC-KR 3 179463722 179463722 single base substitution G C intron_variant LUSC-KR 3 179464202 179464202 single base substitution C T intron_variant LUSC-KR 3 179464537 179464537 single base substitution G T intron_variant LUSC-KR 3 179469847 179469847 single base substitution G T intron_variant LUSC-KR 3 179470569 179470569 single base substitution A G intron_variant LUSC-KR 3 179472961 179472961 single base substitution G T intron_variant LUSC-KR 3 179473431 179473431 single base substitution A C intron_variant LUSC-KR 3 179473844 179473844 single base substitution G A intron_variant LUSC-KR 3 179474148 179474148 single base substitution G T intron_variant LUSC-KR 3 179474767 179474767 single base substitution A G intron_variant LUSC-KR 3 179475308 179475308 single base substitution C G downstream_gene_variant LUSC-KR 3 179475308 179475308 single base substitution C G intron_variant LUSC-KR 3 179476788 179476788 single base substitution G C downstream_gene_variant LUSC-KR 3 179476788 179476788 single base substitution G C intron_variant LUSC-KR 3 179479180 179479180 single base substitution G C downstream_gene_variant LUSC-KR 3 179479180 179479180 single base substitution G C intron_variant LUSC-KR 3 179481443 179481443 single base substitution C G downstream_gene_variant LUSC-KR 3 179481443 179481443 single base substitution C G intron_variant LUSC-KR 3 179481764 179481764 single base substitution G T downstream_gene_variant LUSC-KR 3 179481764 179481764 single base substitution G T intron_variant LUSC-KR 3 179481772 179481772 single base substitution T G downstream_gene_variant LUSC-KR 3 179481772 179481772 single base substitution T G intron_variant LUSC-KR 3 179481816 179481816 single base substitution G T downstream_gene_variant LUSC-KR 3 179481816 179481816 single base substitution G T missense_variant G642C 1924G>T LUSC-KR 3 179481816 179481816 single base substitution G T missense_variant G707C 2119G>T LUSC-KR 3 179482110 179482110 single base substitution G T downstream_gene_variant LUSC-KR 3 179482110 179482110 single base substitution G T intron_variant LUSC-KR 3 179485462 179485462 single base substitution G A intron_variant LUSC-KR 3 179486242 179486242 single base substitution G T intron_variant LUSC-KR 3 179487312 179487312 single base substitution C A intron_variant LUSC-KR 3 179487974 179487974 single base substitution A T intron_variant LUSC-KR 3 179488338 179488338 single base substitution C G intron_variant LUSC-KR 3 179489171 179489171 single base substitution G A intron_variant LUSC-KR 3 179489202 179489202 single base substitution G A intron_variant LUSC-KR 3 179490932 179490932 single base substitution A G intron_variant LUSC-KR 3 179494038 179494038 single base substitution C A intron_variant LUSC-KR 3 179495105 179495105 single base substitution G T intron_variant LUSC-KR 3 179495890 179495890 single base substitution C T intron_variant LUSC-KR 3 179496926 179496926 single base substitution C T intron_variant LUSC-KR 3 179499180 179499180 single base substitution G T intron_variant LUSC-KR 3 179500771 179500771 single base substitution G A intron_variant LUSC-KR 3 179502263 179502263 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 179502263 179502263 single base substitution T C downstream_gene_variant LUSC-KR 3 179502264 179502264 single base substitution G T 3_prime_UTR_variant LUSC-KR 3 179502264 179502264 single base substitution G T downstream_gene_variant LUSC-KR 3 179504225 179504225 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 179504225 179504225 single base substitution A G downstream_gene_variant LUSC-KR 3 179504545 179504545 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 179504545 179504545 single base substitution G A downstream_gene_variant LUSC-KR 3 179506721 179506721 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 179506721 179506721 single base substitution G C downstream_gene_variant LUSC-KR 3 179510931 179510931 single base substitution C T downstream_gene_variant LUSC-KR 3 179511679 179511679 single base substitution C T downstream_gene_variant LUSC-KR 3 179511965 179511965 single base substitution G T downstream_gene_variant LUSC-US 3 179399767 179399767 single base substitution G A exon_variant LUSC-US 3 179399767 179399767 single base substitution G A missense_variant M25I 75G>A LUSC-US 3 179399767 179399767 single base substitution G A missense_variant M90I 270G>A LUSC-US 3 179399768 179399768 single base substitution C T exon_variant LUSC-US 3 179399768 179399768 single base substitution C T missense_variant H26Y 76C>T LUSC-US 3 179399768 179399768 single base substitution C T missense_variant H91Y 271C>T LUSC-US 3 179426590 179426590 single base substitution G T downstream_gene_variant LUSC-US 3 179426590 179426590 single base substitution G T exon_variant LUSC-US 3 179426590 179426590 single base substitution G T missense_variant R152L 455G>T LUSC-US 3 179426590 179426590 single base substitution G T missense_variant R217L 650G>T LUSC-US 3 179426630 179426630 single base substitution G T downstream_gene_variant LUSC-US 3 179426630 179426630 single base substitution G T exon_variant LUSC-US 3 179426630 179426630 single base substitution G T synonymous_variant L165L 495G>T LUSC-US 3 179426630 179426630 single base substitution G T synonymous_variant L230L 690G>T LUSC-US 3 179447977 179447977 single base substitution G T splice_region_variant LUSC-US 3 179448430 179448430 single base substitution C T exon_variant LUSC-US 3 179448430 179448430 single base substitution C T missense_variant S331L 992C>T LUSC-US 3 179448430 179448430 single base substitution C T missense_variant S396L 1187C>T LUSC-US 3 179448430 179448430 single base substitution C T missense_variant S42L 125C>T LUSC-US 3 179458136 179458136 single base substitution C G exon_variant LUSC-US 3 179458136 179458136 single base substitution C G missense_variant F387L 1161C>G LUSC-US 3 179458136 179458136 single base substitution C G missense_variant F452L 1356C>G LUSC-US 3 179458136 179458136 single base substitution C G missense_variant F98L 294C>G LUSC-US 3 179460014 179460014 single base substitution C T exon_variant LUSC-US 3 179460014 179460014 single base substitution C T synonymous_variant S116S 348C>T LUSC-US 3 179460014 179460014 single base substitution C T synonymous_variant S405S 1215C>T LUSC-US 3 179460014 179460014 single base substitution C T synonymous_variant S470S 1410C>T LUSC-US 3 179472565 179472565 single base substitution G T exon_variant LUSC-US 3 179472565 179472565 single base substitution G T missense_variant R261L 782G>T LUSC-US 3 179472565 179472565 single base substitution G T missense_variant R550L 1649G>T LUSC-US 3 179472565 179472565 single base substitution G T missense_variant R615L 1844G>T LUSC-US 3 179478921 179478921 single base substitution C T downstream_gene_variant LUSC-US 3 179478921 179478921 single base substitution C T missense_variant S294L 881C>T LUSC-US 3 179478921 179478921 single base substitution C T missense_variant S592L 1775C>T LUSC-US 3 179478921 179478921 single base substitution C T missense_variant S657L 1970C>T LUSC-US 3 179481915 179481915 single base substitution G T downstream_gene_variant LUSC-US 3 179481915 179481915 single base substitution G T stop_gained G675* 2023G>T LUSC-US 3 179481915 179481915 single base substitution G T stop_gained G740* 2218G>T LUSC-US 3 179501871 179501871 single base substitution C G stop_gained S780* 2339C>G LUSC-US 3 179501871 179501871 single base substitution C G stop_gained S845* 2534C>G LUSC-US 3 179501877 179501877 single base substitution G T missense_variant R782M 2345G>T LUSC-US 3 179501877 179501877 single base substitution G T missense_variant R847M 2540G>T MALY-DE 3 179366461 179366461 insertion of <=200bp - A upstream_gene_variant MALY-DE 3 179377529 179377529 single base substitution T A intron_variant MALY-DE 3 179378978 179378978 single base substitution G C intron_variant MALY-DE 3 179379679 179379679 single base substitution C T intron_variant MALY-DE 3 179390381 179390381 single base substitution C T intron_variant MALY-DE 3 179414035 179414035 single base substitution T C intron_variant MALY-DE 3 179415084 179415084 single base substitution T A intron_variant MALY-DE 3 179416749 179416749 single base substitution C A intron_variant MALY-DE 3 179420335 179420335 single base substitution A G intron_variant MALY-DE 3 179428061 179428061 single base substitution T A downstream_gene_variant MALY-DE 3 179428061 179428061 single base substitution T A intron_variant MALY-DE 3 179442979 179442979 single base substitution G A intron_variant MALY-DE 3 179455897 179455897 single base substitution G C intron_variant MALY-DE 3 179457582 179457582 deletion of <=200bp G - intron_variant MALY-DE 3 179458578 179458578 single base substitution T C intron_variant MALY-DE 3 179462091 179462091 single base substitution C T intron_variant MALY-DE 3 179463012 179463012 single base substitution G A intron_variant MALY-DE 3 179463012 179463012 single base substitution G A splice_region_variant MALY-DE 3 179463966 179463967 deletion of <=200bp TA - intron_variant MALY-DE 3 179468206 179468206 single base substitution A C intron_variant MALY-DE 3 179474060 179474060 single base substitution A C intron_variant MALY-DE 3 179478433 179478433 single base substitution C T downstream_gene_variant MALY-DE 3 179478433 179478433 single base substitution C T intron_variant MALY-DE 3 179488265 179488265 single base substitution A T intron_variant MALY-DE 3 179491654 179491654 insertion of <=200bp - T intron_variant MALY-DE 3 179499083 179499083 deletion of <=200bp T - intron_variant MALY-DE 3 179509026 179509026 single base substitution A G downstream_gene_variant MALY-DE 3 179511237 179511237 single base substitution A T downstream_gene_variant MELA-AU 3 179366161 179366161 single base substitution G A upstream_gene_variant MELA-AU 3 179366304 179366304 single base substitution C T upstream_gene_variant MELA-AU 3 179366969 179366969 single base substitution C T upstream_gene_variant MELA-AU 3 179367004 179367004 single base substitution G T upstream_gene_variant MELA-AU 3 179367704 179367704 single base substitution G A upstream_gene_variant MELA-AU 3 179367900 179367900 single base substitution C T upstream_gene_variant MELA-AU 3 179369712 179369713 multiple base substitution (>=2bp and <=200bp) TT GC upstream_gene_variant MELA-AU 3 179370253 179370287 deletion of <=200bp ACACACACACTCCCACACACACCCCGCCCTCCCCC - upstream_gene_variant MELA-AU 3 179372352 179372352 single base substitution C T intron_variant MELA-AU 3 179372773 179372774 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 179372933 179372933 single base substitution C T intron_variant MELA-AU 3 179373840 179373852 deletion of <=200bp AAAGAAATCATCC - intron_variant MELA-AU 3 179374323 179374323 single base substitution T C intron_variant MELA-AU 3 179374849 179374849 single base substitution C T intron_variant MELA-AU 3 179375175 179375175 single base substitution C T intron_variant MELA-AU 3 179375466 179375466 single base substitution C T intron_variant MELA-AU 3 179375520 179375520 single base substitution C T intron_variant MELA-AU 3 179375538 179375538 single base substitution G A intron_variant MELA-AU 3 179375739 179375739 single base substitution T A intron_variant MELA-AU 3 179375756 179375756 single base substitution A T intron_variant MELA-AU 3 179375785 179375785 single base substitution G A intron_variant MELA-AU 3 179376052 179376052 single base substitution C T intron_variant MELA-AU 3 179376864 179376864 single base substitution C T intron_variant MELA-AU 3 179377466 179377466 single base substitution C T intron_variant MELA-AU 3 179377787 179377787 single base substitution C A intron_variant MELA-AU 3 179379066 179379066 single base substitution C T intron_variant MELA-AU 3 179379332 179379332 single base substitution T A intron_variant MELA-AU 3 179379353 179379353 single base substitution C T intron_variant MELA-AU 3 179380831 179380831 single base substitution G T intron_variant MELA-AU 3 179381085 179381085 single base substitution C T intron_variant MELA-AU 3 179381997 179381997 single base substitution C T intron_variant MELA-AU 3 179382616 179382616 single base substitution C T intron_variant MELA-AU 3 179384351 179384351 single base substitution T G intron_variant MELA-AU 3 179384683 179384683 single base substitution C T intron_variant MELA-AU 3 179384932 179384932 single base substitution C T intron_variant MELA-AU 3 179384937 179384937 single base substitution C T intron_variant MELA-AU 3 179385330 179385330 single base substitution C T intron_variant MELA-AU 3 179385508 179385508 single base substitution C T intron_variant MELA-AU 3 179385536 179385536 single base substitution G A intron_variant MELA-AU 3 179386020 179386020 single base substitution T C intron_variant MELA-AU 3 179386925 179386925 single base substitution C T intron_variant MELA-AU 3 179387339 179387339 single base substitution C T intron_variant MELA-AU 3 179388237 179388237 single base substitution C T intron_variant MELA-AU 3 179389048 179389048 single base substitution T C intron_variant MELA-AU 3 179389362 179389362 single base substitution A C intron_variant MELA-AU 3 179389568 179389568 single base substitution A T intron_variant MELA-AU 3 179389596 179389596 single base substitution C T intron_variant MELA-AU 3 179389601 179389601 single base substitution C T intron_variant MELA-AU 3 179390421 179390421 single base substitution C T intron_variant MELA-AU 3 179390425 179390425 single base substitution T C intron_variant MELA-AU 3 179390739 179390739 single base substitution G A intron_variant MELA-AU 3 179391790 179391790 single base substitution C T intron_variant MELA-AU 3 179391841 179391841 single base substitution C T intron_variant MELA-AU 3 179392064 179392064 single base substitution C T intron_variant MELA-AU 3 179392212 179392212 single base substitution C T intron_variant MELA-AU 3 179393394 179393394 single base substitution G A intron_variant MELA-AU 3 179393890 179393890 single base substitution C T intron_variant MELA-AU 3 179394871 179394871 single base substitution C T intron_variant MELA-AU 3 179395196 179395196 single base substitution C T intron_variant MELA-AU 3 179395411 179395411 single base substitution C T intron_variant MELA-AU 3 179395507 179395507 single base substitution C T intron_variant MELA-AU 3 179396671 179396671 single base substitution G A intron_variant MELA-AU 3 179396890 179396890 single base substitution C T intron_variant MELA-AU 3 179397306 179397306 single base substitution G A intron_variant MELA-AU 3 179399327 179399327 single base substitution C T intron_variant MELA-AU 3 179400396 179400396 single base substitution C T intron_variant MELA-AU 3 179400415 179400415 single base substitution C T intron_variant MELA-AU 3 179400687 179400687 single base substitution C A intron_variant MELA-AU 3 179401010 179401010 single base substitution C T intron_variant MELA-AU 3 179401409 179401409 single base substitution A C intron_variant MELA-AU 3 179401747 179401747 single base substitution C T intron_variant MELA-AU 3 179401756 179401756 single base substitution T A intron_variant MELA-AU 3 179401773 179401773 single base substitution G A intron_variant MELA-AU 3 179401778 179401778 single base substitution C T intron_variant MELA-AU 3 179401994 179401994 single base substitution C T intron_variant MELA-AU 3 179402066 179402066 single base substitution C G intron_variant MELA-AU 3 179402269 179402269 single base substitution C T intron_variant MELA-AU 3 179402616 179402616 single base substitution C T intron_variant MELA-AU 3 179405001 179405001 single base substitution C T intron_variant MELA-AU 3 179405012 179405012 single base substitution C T intron_variant MELA-AU 3 179405227 179405227 single base substitution C T intron_variant MELA-AU 3 179405825 179405825 single base substitution C T intron_variant MELA-AU 3 179406026 179406026 single base substitution C T intron_variant MELA-AU 3 179406121 179406121 single base substitution C T intron_variant MELA-AU 3 179406740 179406740 single base substitution C T intron_variant MELA-AU 3 179407194 179407194 single base substitution C T intron_variant MELA-AU 3 179407786 179407786 single base substitution C T intron_variant MELA-AU 3 179407969 179407969 single base substitution C T intron_variant MELA-AU 3 179408151 179408151 single base substitution C T intron_variant MELA-AU 3 179408484 179408484 single base substitution C T intron_variant MELA-AU 3 179408645 179408645 single base substitution C T intron_variant MELA-AU 3 179409029 179409029 single base substitution G A intron_variant MELA-AU 3 179410079 179410079 single base substitution T G intron_variant MELA-AU 3 179410441 179410441 single base substitution G A intron_variant MELA-AU 3 179410601 179410601 single base substitution A G intron_variant MELA-AU 3 179410688 179410688 single base substitution C T intron_variant MELA-AU 3 179411060 179411060 single base substitution C T intron_variant MELA-AU 3 179411884 179411884 single base substitution C T intron_variant MELA-AU 3 179411969 179411970 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 179412312 179412312 single base substitution C T intron_variant MELA-AU 3 179412881 179412881 single base substitution C T intron_variant MELA-AU 3 179412984 179412984 single base substitution G T intron_variant MELA-AU 3 179413306 179413306 single base substitution C G intron_variant MELA-AU 3 179413651 179413651 single base substitution C A intron_variant MELA-AU 3 179413676 179413677 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179413718 179413718 single base substitution G A intron_variant MELA-AU 3 179414953 179414953 single base substitution G A intron_variant MELA-AU 3 179414958 179414958 single base substitution G A intron_variant MELA-AU 3 179415427 179415428 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 179415444 179415444 single base substitution C T intron_variant MELA-AU 3 179415603 179415603 single base substitution C T intron_variant MELA-AU 3 179415948 179415948 single base substitution T C intron_variant MELA-AU 3 179416352 179416352 single base substitution G T intron_variant MELA-AU 3 179417056 179417056 single base substitution T C intron_variant MELA-AU 3 179417932 179417932 single base substitution C T intron_variant MELA-AU 3 179418338 179418338 single base substitution C T intron_variant MELA-AU 3 179419099 179419099 single base substitution G A intron_variant MELA-AU 3 179419436 179419436 single base substitution C T intron_variant MELA-AU 3 179419740 179419740 single base substitution T G intron_variant MELA-AU 3 179420591 179420591 single base substitution C T intron_variant MELA-AU 3 179422080 179422080 single base substitution T A intron_variant MELA-AU 3 179422166 179422179 deletion of <=200bp CAAACAAGGAGGTT - intron_variant MELA-AU 3 179423215 179423215 single base substitution C T intron_variant MELA-AU 3 179423538 179423538 single base substitution T G intron_variant MELA-AU 3 179424148 179424148 single base substitution C T intron_variant MELA-AU 3 179424157 179424157 single base substitution C T intron_variant MELA-AU 3 179424576 179424576 single base substitution G A intron_variant MELA-AU 3 179424666 179424666 single base substitution C A intron_variant MELA-AU 3 179424671 179424671 single base substitution C T intron_variant MELA-AU 3 179424974 179424974 single base substitution C T intron_variant MELA-AU 3 179425192 179425192 single base substitution C T intron_variant MELA-AU 3 179425436 179425436 single base substitution G A intron_variant MELA-AU 3 179425675 179425675 single base substitution C T intron_variant MELA-AU 3 179425789 179425789 single base substitution G A intron_variant MELA-AU 3 179426037 179426037 single base substitution C T intron_variant MELA-AU 3 179426856 179426856 single base substitution G A downstream_gene_variant MELA-AU 3 179426856 179426856 single base substitution G A intron_variant MELA-AU 3 179427670 179427670 single base substitution C T downstream_gene_variant MELA-AU 3 179427670 179427670 single base substitution C T intron_variant MELA-AU 3 179428002 179428002 single base substitution C T downstream_gene_variant MELA-AU 3 179428002 179428002 single base substitution C T intron_variant MELA-AU 3 179428098 179428098 single base substitution C T downstream_gene_variant MELA-AU 3 179428098 179428098 single base substitution C T intron_variant MELA-AU 3 179428099 179428099 single base substitution C T downstream_gene_variant MELA-AU 3 179428099 179428099 single base substitution C T intron_variant MELA-AU 3 179428764 179428764 single base substitution G A downstream_gene_variant MELA-AU 3 179428764 179428764 single base substitution G A intron_variant MELA-AU 3 179429105 179429105 single base substitution C T downstream_gene_variant MELA-AU 3 179429105 179429105 single base substitution C T intron_variant MELA-AU 3 179429359 179429359 single base substitution T G downstream_gene_variant MELA-AU 3 179429359 179429359 single base substitution T G intron_variant MELA-AU 3 179429586 179429586 single base substitution C T downstream_gene_variant MELA-AU 3 179429586 179429586 single base substitution C T intron_variant MELA-AU 3 179430232 179430232 single base substitution C T downstream_gene_variant MELA-AU 3 179430232 179430232 single base substitution C T intron_variant MELA-AU 3 179430622 179430622 single base substitution C T downstream_gene_variant MELA-AU 3 179430622 179430622 single base substitution C T intron_variant MELA-AU 3 179430825 179430825 single base substitution C T downstream_gene_variant MELA-AU 3 179430825 179430825 single base substitution C T intron_variant MELA-AU 3 179430988 179430988 single base substitution C T downstream_gene_variant MELA-AU 3 179430988 179430988 single base substitution C T intron_variant MELA-AU 3 179431679 179431679 single base substitution A C intron_variant MELA-AU 3 179433040 179433040 single base substitution C T intron_variant MELA-AU 3 179433351 179433351 single base substitution C T intron_variant MELA-AU 3 179433547 179433547 single base substitution C T intron_variant MELA-AU 3 179434064 179434064 single base substitution C A intron_variant MELA-AU 3 179434464 179434464 single base substitution A G intron_variant MELA-AU 3 179434464 179434464 single base substitution A G upstream_gene_variant MELA-AU 3 179435412 179435412 single base substitution C T intron_variant MELA-AU 3 179435412 179435412 single base substitution C T upstream_gene_variant MELA-AU 3 179435744 179435744 single base substitution T A intron_variant MELA-AU 3 179435744 179435744 single base substitution T A upstream_gene_variant MELA-AU 3 179436004 179436004 single base substitution T C intron_variant MELA-AU 3 179436004 179436004 single base substitution T C upstream_gene_variant MELA-AU 3 179436087 179436087 single base substitution C T intron_variant MELA-AU 3 179436087 179436087 single base substitution C T upstream_gene_variant MELA-AU 3 179436124 179436124 single base substitution G A intron_variant MELA-AU 3 179436124 179436124 single base substitution G A upstream_gene_variant MELA-AU 3 179436999 179436999 single base substitution C T intron_variant MELA-AU 3 179436999 179436999 single base substitution C T upstream_gene_variant MELA-AU 3 179437349 179437349 single base substitution C T intron_variant MELA-AU 3 179437349 179437349 single base substitution C T upstream_gene_variant MELA-AU 3 179438474 179438474 single base substitution C G intron_variant MELA-AU 3 179438474 179438474 single base substitution C G upstream_gene_variant MELA-AU 3 179438854 179438854 single base substitution C T intron_variant MELA-AU 3 179438854 179438854 single base substitution C T upstream_gene_variant MELA-AU 3 179439343 179439343 single base substitution C A exon_variant MELA-AU 3 179439343 179439343 single base substitution C A missense_variant Q287K 859C>A MELA-AU 3 179439343 179439343 single base substitution C A missense_variant Q352K 1054C>A MELA-AU 3 179439343 179439343 single base substitution C A upstream_gene_variant MELA-AU 3 179439582 179439583 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179439675 179439675 single base substitution T G intron_variant MELA-AU 3 179439751 179439751 single base substitution G A intron_variant MELA-AU 3 179439943 179439943 single base substitution C T intron_variant MELA-AU 3 179440236 179440236 single base substitution G A intron_variant MELA-AU 3 179440242 179440242 single base substitution C T intron_variant MELA-AU 3 179440252 179440252 single base substitution A T intron_variant MELA-AU 3 179440341 179440341 single base substitution C T intron_variant MELA-AU 3 179440395 179440395 single base substitution C T intron_variant MELA-AU 3 179440678 179440678 single base substitution G A intron_variant MELA-AU 3 179440694 179440694 single base substitution C T intron_variant MELA-AU 3 179440737 179440737 single base substitution C T intron_variant MELA-AU 3 179441785 179441785 single base substitution T A intron_variant MELA-AU 3 179441840 179441840 single base substitution C T intron_variant MELA-AU 3 179441842 179441842 single base substitution G A intron_variant MELA-AU 3 179442183 179442183 single base substitution T C intron_variant MELA-AU 3 179442619 179442619 single base substitution C T intron_variant MELA-AU 3 179442756 179442756 single base substitution C T intron_variant MELA-AU 3 179443727 179443728 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 179444034 179444034 single base substitution A G intron_variant MELA-AU 3 179444229 179444229 single base substitution A T intron_variant MELA-AU 3 179444658 179444658 single base substitution G A intron_variant MELA-AU 3 179446004 179446004 single base substitution C T intron_variant MELA-AU 3 179447097 179447098 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179447289 179447289 single base substitution T C intron_variant MELA-AU 3 179449001 179449002 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 179449228 179449228 single base substitution C T intron_variant MELA-AU 3 179449282 179449282 single base substitution C T intron_variant MELA-AU 3 179450524 179450524 single base substitution C T intron_variant MELA-AU 3 179450820 179450820 single base substitution C T intron_variant MELA-AU 3 179452404 179452404 single base substitution C T intron_variant MELA-AU 3 179453204 179453204 single base substitution C T intron_variant MELA-AU 3 179453407 179453407 single base substitution C T intron_variant MELA-AU 3 179453412 179453412 single base substitution C T intron_variant MELA-AU 3 179453452 179453452 single base substitution C T intron_variant MELA-AU 3 179454982 179454982 deletion of <=200bp A - intron_variant MELA-AU 3 179455069 179455069 single base substitution C T intron_variant MELA-AU 3 179456491 179456491 single base substitution C T intron_variant MELA-AU 3 179456552 179456552 single base substitution C T intron_variant MELA-AU 3 179456723 179456723 single base substitution G A intron_variant MELA-AU 3 179456958 179456958 single base substitution C T intron_variant MELA-AU 3 179457322 179457322 single base substitution C T intron_variant MELA-AU 3 179457661 179457661 single base substitution C T intron_variant MELA-AU 3 179458307 179458307 single base substitution G T intron_variant MELA-AU 3 179458945 179458945 single base substitution C T intron_variant MELA-AU 3 179459386 179459386 single base substitution C T intron_variant MELA-AU 3 179459413 179459414 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179459676 179459676 single base substitution C T intron_variant MELA-AU 3 179460024 179460024 single base substitution C T exon_variant MELA-AU 3 179460024 179460024 single base substitution C T missense_variant R120C 358C>T MELA-AU 3 179460024 179460024 single base substitution C T missense_variant R409C 1225C>T MELA-AU 3 179460024 179460024 single base substitution C T missense_variant R474C 1420C>T MELA-AU 3 179460072 179460072 single base substitution C T exon_variant MELA-AU 3 179460072 179460072 single base substitution C T missense_variant R136C 406C>T MELA-AU 3 179460072 179460072 single base substitution C T missense_variant R425C 1273C>T MELA-AU 3 179460072 179460072 single base substitution C T missense_variant R490C 1468C>T MELA-AU 3 179460847 179460847 single base substitution C T intron_variant MELA-AU 3 179461323 179461323 single base substitution C T intron_variant MELA-AU 3 179461676 179461676 single base substitution T C intron_variant MELA-AU 3 179461844 179461844 single base substitution C T intron_variant MELA-AU 3 179462585 179462585 single base substitution C T intron_variant MELA-AU 3 179463073 179463073 single base substitution G A intron_variant MELA-AU 3 179463474 179463474 single base substitution C T intron_variant MELA-AU 3 179463620 179463620 single base substitution G A intron_variant MELA-AU 3 179464468 179464468 single base substitution C T intron_variant MELA-AU 3 179464547 179464547 single base substitution T C intron_variant MELA-AU 3 179465412 179465412 single base substitution G C intron_variant MELA-AU 3 179465666 179465666 single base substitution C T intron_variant MELA-AU 3 179465690 179465690 single base substitution C T intron_variant MELA-AU 3 179465904 179465904 single base substitution C T intron_variant MELA-AU 3 179466878 179466878 single base substitution A G intron_variant MELA-AU 3 179467022 179467022 single base substitution T C intron_variant MELA-AU 3 179469030 179469030 single base substitution C T intron_variant MELA-AU 3 179469665 179469665 single base substitution C T intron_variant MELA-AU 3 179469847 179469847 single base substitution G A intron_variant MELA-AU 3 179470180 179470180 single base substitution C T intron_variant MELA-AU 3 179470272 179470272 single base substitution C T intron_variant MELA-AU 3 179470349 179470349 single base substitution C T intron_variant MELA-AU 3 179470745 179470745 single base substitution C T intron_variant MELA-AU 3 179472338 179472338 single base substitution C T intron_variant MELA-AU 3 179472613 179472613 single base substitution C T exon_variant MELA-AU 3 179472613 179472613 single base substitution C T missense_variant P277L 830C>T MELA-AU 3 179472613 179472613 single base substitution C T missense_variant P566L 1697C>T MELA-AU 3 179472613 179472613 single base substitution C T missense_variant P631L 1892C>T MELA-AU 3 179472675 179472675 single base substitution C T intron_variant MELA-AU 3 179473502 179473502 single base substitution C T intron_variant MELA-AU 3 179473860 179473860 single base substitution C T intron_variant MELA-AU 3 179474280 179474280 single base substitution C T intron_variant MELA-AU 3 179474730 179474730 single base substitution C T intron_variant MELA-AU 3 179475155 179475155 single base substitution T A downstream_gene_variant MELA-AU 3 179475155 179475155 single base substitution T A intron_variant MELA-AU 3 179475903 179475903 single base substitution A G downstream_gene_variant MELA-AU 3 179475903 179475903 single base substitution A G intron_variant MELA-AU 3 179475921 179475921 single base substitution T G downstream_gene_variant MELA-AU 3 179475921 179475921 single base substitution T G intron_variant MELA-AU 3 179476094 179476094 single base substitution C T downstream_gene_variant MELA-AU 3 179476094 179476094 single base substitution C T intron_variant MELA-AU 3 179476277 179476277 single base substitution C T downstream_gene_variant MELA-AU 3 179476277 179476277 single base substitution C T intron_variant MELA-AU 3 179476521 179476521 single base substitution C T downstream_gene_variant MELA-AU 3 179476521 179476521 single base substitution C T intron_variant MELA-AU 3 179476680 179476680 single base substitution C T downstream_gene_variant MELA-AU 3 179476680 179476680 single base substitution C T intron_variant MELA-AU 3 179477672 179477672 single base substitution G A downstream_gene_variant MELA-AU 3 179477672 179477672 single base substitution G A intron_variant MELA-AU 3 179477774 179477774 single base substitution C T downstream_gene_variant MELA-AU 3 179477774 179477774 single base substitution C T intron_variant MELA-AU 3 179478397 179478397 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 179478397 179478397 deletion of <=200bp A - intron_variant MELA-AU 3 179478608 179478608 single base substitution C T downstream_gene_variant MELA-AU 3 179478608 179478608 single base substitution C T intron_variant MELA-AU 3 179478659 179478659 single base substitution C T downstream_gene_variant MELA-AU 3 179478659 179478659 single base substitution C T intron_variant MELA-AU 3 179479208 179479208 single base substitution T A downstream_gene_variant MELA-AU 3 179479208 179479208 single base substitution T A intron_variant MELA-AU 3 179479240 179479240 single base substitution G T downstream_gene_variant MELA-AU 3 179479240 179479240 single base substitution G T intron_variant MELA-AU 3 179480040 179480040 single base substitution A T downstream_gene_variant MELA-AU 3 179480040 179480040 single base substitution A T intron_variant MELA-AU 3 179480405 179480405 single base substitution T A downstream_gene_variant MELA-AU 3 179480405 179480405 single base substitution T A intron_variant MELA-AU 3 179481716 179481716 single base substitution C T downstream_gene_variant MELA-AU 3 179481716 179481716 single base substitution C T intron_variant MELA-AU 3 179481809 179481809 single base substitution C T downstream_gene_variant MELA-AU 3 179481809 179481809 single base substitution C T synonymous_variant T639T 1917C>T MELA-AU 3 179481809 179481809 single base substitution C T synonymous_variant T704T 2112C>T MELA-AU 3 179481893 179481893 single base substitution C T downstream_gene_variant MELA-AU 3 179481893 179481893 single base substitution C T synonymous_variant I667I 2001C>T MELA-AU 3 179481893 179481893 single base substitution C T synonymous_variant I732I 2196C>T MELA-AU 3 179482612 179482612 single base substitution C T downstream_gene_variant MELA-AU 3 179482612 179482612 single base substitution C T intron_variant MELA-AU 3 179482996 179482996 single base substitution C T downstream_gene_variant MELA-AU 3 179482996 179482996 single base substitution C T intron_variant MELA-AU 3 179483057 179483057 single base substitution C T downstream_gene_variant MELA-AU 3 179483057 179483057 single base substitution C T intron_variant MELA-AU 3 179483183 179483183 single base substitution C T downstream_gene_variant MELA-AU 3 179483183 179483183 single base substitution C T intron_variant MELA-AU 3 179483388 179483388 single base substitution C T downstream_gene_variant MELA-AU 3 179483388 179483388 single base substitution C T intron_variant MELA-AU 3 179483657 179483657 single base substitution C T downstream_gene_variant MELA-AU 3 179483657 179483657 single base substitution C T intron_variant MELA-AU 3 179483722 179483722 single base substitution C T downstream_gene_variant MELA-AU 3 179483722 179483722 single base substitution C T intron_variant MELA-AU 3 179484072 179484072 single base substitution C T intron_variant MELA-AU 3 179484200 179484200 single base substitution C T intron_variant MELA-AU 3 179484678 179484678 single base substitution C T intron_variant MELA-AU 3 179484708 179484708 single base substitution C T intron_variant MELA-AU 3 179484883 179484883 single base substitution T A intron_variant MELA-AU 3 179485141 179485141 single base substitution C G intron_variant MELA-AU 3 179485706 179485706 single base substitution T C intron_variant MELA-AU 3 179485782 179485782 single base substitution C T intron_variant MELA-AU 3 179485981 179485981 single base substitution G A intron_variant MELA-AU 3 179486303 179486303 single base substitution T G intron_variant MELA-AU 3 179486636 179486636 single base substitution C T intron_variant MELA-AU 3 179487298 179487298 single base substitution T C intron_variant MELA-AU 3 179487393 179487393 single base substitution C T intron_variant MELA-AU 3 179487593 179487593 single base substitution T A intron_variant MELA-AU 3 179487916 179487916 single base substitution C G intron_variant MELA-AU 3 179487930 179487930 single base substitution C T intron_variant MELA-AU 3 179489569 179489569 single base substitution C T intron_variant MELA-AU 3 179490926 179490926 single base substitution G T intron_variant MELA-AU 3 179491312 179491312 single base substitution C T intron_variant MELA-AU 3 179491982 179491982 single base substitution C T intron_variant MELA-AU 3 179492142 179492142 single base substitution G T intron_variant MELA-AU 3 179492172 179492172 single base substitution C T intron_variant MELA-AU 3 179493173 179493173 single base substitution A G intron_variant MELA-AU 3 179493182 179493182 single base substitution C T intron_variant MELA-AU 3 179493219 179493219 single base substitution C T intron_variant MELA-AU 3 179493369 179493369 single base substitution C T intron_variant MELA-AU 3 179493599 179493599 single base substitution C A intron_variant MELA-AU 3 179493618 179493618 single base substitution C T intron_variant MELA-AU 3 179493656 179493656 single base substitution C T intron_variant MELA-AU 3 179493719 179493719 single base substitution C T intron_variant MELA-AU 3 179494462 179494462 single base substitution C T intron_variant MELA-AU 3 179494476 179494476 single base substitution G A intron_variant MELA-AU 3 179494516 179494516 single base substitution T A intron_variant MELA-AU 3 179494524 179494524 single base substitution C T intron_variant MELA-AU 3 179495339 179495339 single base substitution C T intron_variant MELA-AU 3 179495543 179495543 single base substitution T G intron_variant MELA-AU 3 179495701 179495701 single base substitution C T intron_variant MELA-AU 3 179496225 179496225 single base substitution G A intron_variant MELA-AU 3 179496548 179496548 single base substitution C T intron_variant MELA-AU 3 179496582 179496582 single base substitution A G intron_variant MELA-AU 3 179496841 179496841 single base substitution T C intron_variant MELA-AU 3 179496952 179496952 single base substitution T C intron_variant MELA-AU 3 179497385 179497385 single base substitution C T intron_variant MELA-AU 3 179497864 179497864 single base substitution C T intron_variant MELA-AU 3 179498609 179498609 single base substitution C T intron_variant MELA-AU 3 179498917 179498917 single base substitution C T intron_variant MELA-AU 3 179499048 179499048 single base substitution C T intron_variant MELA-AU 3 179499080 179499080 single base substitution G A intron_variant MELA-AU 3 179499274 179499274 single base substitution C T intron_variant MELA-AU 3 179500006 179500006 single base substitution G A intron_variant MELA-AU 3 179500016 179500016 single base substitution T A intron_variant MELA-AU 3 179500582 179500582 single base substitution G C intron_variant MELA-AU 3 179500726 179500726 single base substitution T C intron_variant MELA-AU 3 179501214 179501214 single base substitution C G intron_variant MELA-AU 3 179501678 179501679 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 179501710 179501710 single base substitution G A intron_variant MELA-AU 3 179501868 179501868 single base substitution C T missense_variant A779V 2336C>T MELA-AU 3 179501868 179501868 single base substitution C T missense_variant A844V 2531C>T MELA-AU 3 179502046 179502046 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179502589 179502589 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179502589 179502589 single base substitution C T downstream_gene_variant MELA-AU 3 179502869 179502869 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179502869 179502869 single base substitution C T downstream_gene_variant MELA-AU 3 179503012 179503012 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179503012 179503012 single base substitution C T downstream_gene_variant MELA-AU 3 179504195 179504195 single base substitution G T 3_prime_UTR_variant MELA-AU 3 179504195 179504195 single base substitution G T downstream_gene_variant MELA-AU 3 179505485 179505485 single base substitution G A 3_prime_UTR_variant MELA-AU 3 179505485 179505485 single base substitution G A downstream_gene_variant MELA-AU 3 179505878 179505878 single base substitution T G 3_prime_UTR_variant MELA-AU 3 179505878 179505878 single base substitution T G downstream_gene_variant MELA-AU 3 179506446 179506446 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179506446 179506446 single base substitution C T downstream_gene_variant MELA-AU 3 179506592 179506592 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179506592 179506592 single base substitution C T downstream_gene_variant MELA-AU 3 179506889 179506889 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179506889 179506889 single base substitution C T downstream_gene_variant MELA-AU 3 179506897 179506897 single base substitution C T 3_prime_UTR_variant MELA-AU 3 179506897 179506897 single base substitution C T downstream_gene_variant MELA-AU 3 179506908 179506908 single base substitution G A 3_prime_UTR_variant MELA-AU 3 179506908 179506908 single base substitution G A downstream_gene_variant MELA-AU 3 179507557 179507557 single base substitution C T downstream_gene_variant MELA-AU 3 179507692 179507692 single base substitution G A downstream_gene_variant MELA-AU 3 179508576 179508576 single base substitution C T downstream_gene_variant MELA-AU 3 179509099 179509099 single base substitution C T downstream_gene_variant MELA-AU 3 179509971 179509971 single base substitution G C downstream_gene_variant MELA-AU 3 179510703 179510704 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 179511538 179511539 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 179511740 179511740 single base substitution C T downstream_gene_variant MELA-AU 3 179511946 179511946 single base substitution C T downstream_gene_variant ORCA-IN 3 179368152 179368152 single base substitution G T upstream_gene_variant ORCA-IN 3 179375658 179375658 single base substitution G A intron_variant ORCA-IN 3 179391747 179391747 single base substitution C T intron_variant ORCA-IN 3 179427740 179427740 single base substitution A G downstream_gene_variant ORCA-IN 3 179427740 179427740 single base substitution A G intron_variant ORCA-IN 3 179430711 179430711 single base substitution G A downstream_gene_variant ORCA-IN 3 179430711 179430711 single base substitution G A intron_variant ORCA-IN 3 179447010 179447010 single base substitution G C intron_variant ORCA-IN 3 179473110 179473110 single base substitution C A intron_variant OV-AU 3 179367168 179367168 single base substitution G A upstream_gene_variant OV-AU 3 179367910 179367910 single base substitution C T upstream_gene_variant OV-AU 3 179370532 179370532 single base substitution C A upstream_gene_variant OV-AU 3 179381398 179381398 single base substitution C G intron_variant OV-AU 3 179383785 179383785 single base substitution A T intron_variant OV-AU 3 179388660 179388660 single base substitution A G intron_variant OV-AU 3 179390982 179390982 single base substitution C G intron_variant OV-AU 3 179398916 179398916 single base substitution G C intron_variant OV-AU 3 179400916 179400916 single base substitution C G intron_variant OV-AU 3 179403490 179403490 single base substitution A T intron_variant OV-AU 3 179404922 179404922 single base substitution C G intron_variant OV-AU 3 179408534 179408534 single base substitution G A intron_variant OV-AU 3 179411757 179411757 single base substitution A T intron_variant OV-AU 3 179415760 179415760 single base substitution C A intron_variant OV-AU 3 179418703 179418703 single base substitution C G intron_variant OV-AU 3 179433325 179433325 single base substitution G C intron_variant OV-AU 3 179437431 179437431 single base substitution T A intron_variant OV-AU 3 179437431 179437431 single base substitution T A upstream_gene_variant OV-AU 3 179438720 179438720 single base substitution C A intron_variant OV-AU 3 179438720 179438720 single base substitution C A upstream_gene_variant OV-AU 3 179439520 179439520 single base substitution C G intron_variant OV-AU 3 179439950 179439950 single base substitution C A intron_variant OV-AU 3 179444552 179444552 single base substitution A G intron_variant OV-AU 3 179447855 179447855 single base substitution T A intron_variant OV-AU 3 179450979 179450979 single base substitution C G intron_variant OV-AU 3 179455075 179455075 single base substitution C T intron_variant OV-AU 3 179455581 179455581 single base substitution G A intron_variant OV-AU 3 179457042 179457042 single base substitution A C intron_variant OV-AU 3 179459235 179459235 single base substitution T G intron_variant OV-AU 3 179460926 179460926 single base substitution C T intron_variant OV-AU 3 179464663 179464663 single base substitution T A intron_variant OV-AU 3 179465927 179465927 single base substitution C G intron_variant OV-AU 3 179468249 179468249 single base substitution A C intron_variant OV-AU 3 179477924 179477924 single base substitution A G downstream_gene_variant OV-AU 3 179477924 179477924 single base substitution A G intron_variant OV-AU 3 179479686 179479686 single base substitution G A downstream_gene_variant OV-AU 3 179479686 179479686 single base substitution G A intron_variant OV-AU 3 179490925 179490925 single base substitution G A intron_variant OV-AU 3 179493938 179493938 single base substitution T A intron_variant OV-AU 3 179495786 179495786 single base substitution T A intron_variant OV-AU 3 179501164 179501164 single base substitution A G intron_variant PACA-AU 3 179366259 179366259 deletion of <=200bp A - upstream_gene_variant PACA-AU 3 179370288 179370288 single base substitution A C upstream_gene_variant PACA-AU 3 179378744 179378744 single base substitution G A intron_variant PACA-AU 3 179381951 179381951 single base substitution C G intron_variant PACA-AU 3 179385964 179385964 single base substitution T A intron_variant PACA-AU 3 179390177 179390177 single base substitution T C intron_variant PACA-AU 3 179396005 179396005 single base substitution T A intron_variant PACA-AU 3 179397572 179397572 deletion of <=200bp C - intron_variant PACA-AU 3 179397985 179397985 single base substitution C A intron_variant PACA-AU 3 179398808 179398808 single base substitution A G intron_variant PACA-AU 3 179402222 179402222 single base substitution C G intron_variant PACA-AU 3 179403338 179403338 single base substitution C T intron_variant PACA-AU 3 179403930 179403930 single base substitution G A intron_variant PACA-AU 3 179404431 179404431 single base substitution A G intron_variant PACA-AU 3 179409586 179409586 single base substitution G C intron_variant PACA-AU 3 179416279 179416279 deletion of <=200bp G - intron_variant PACA-AU 3 179422545 179422545 single base substitution G A intron_variant PACA-AU 3 179424765 179424765 single base substitution A G 3_prime_UTR_variant PACA-AU 3 179424765 179424765 single base substitution A G exon_variant PACA-AU 3 179424765 179424765 single base substitution A G missense_variant Y109C 326A>G PACA-AU 3 179424765 179424765 single base substitution A G missense_variant Y174C 521A>G PACA-AU 3 179426727 179426727 single base substitution A G downstream_gene_variant PACA-AU 3 179426727 179426727 single base substitution A G exon_variant PACA-AU 3 179426727 179426727 single base substitution A G missense_variant I198V 592A>G PACA-AU 3 179426727 179426727 single base substitution A G missense_variant I263V 787A>G PACA-AU 3 179427796 179427796 single base substitution G A downstream_gene_variant PACA-AU 3 179427796 179427796 single base substitution G A intron_variant PACA-AU 3 179428148 179428148 single base substitution C T downstream_gene_variant PACA-AU 3 179428148 179428148 single base substitution C T intron_variant PACA-AU 3 179431191 179431191 single base substitution G T downstream_gene_variant PACA-AU 3 179431191 179431191 single base substitution G T intron_variant PACA-AU 3 179431321 179431321 single base substitution C T downstream_gene_variant PACA-AU 3 179431321 179431321 single base substitution C T intron_variant PACA-AU 3 179437657 179437657 single base substitution C A intron_variant PACA-AU 3 179437657 179437657 single base substitution C A upstream_gene_variant PACA-AU 3 179438968 179438968 single base substitution T G intron_variant PACA-AU 3 179438968 179438968 single base substitution T G upstream_gene_variant PACA-AU 3 179450534 179450534 deletion of <=200bp A - intron_variant PACA-AU 3 179455389 179455389 single base substitution G T intron_variant PACA-AU 3 179459187 179459187 single base substitution G C intron_variant PACA-AU 3 179461619 179461622 deletion of <=200bp TGAT - intron_variant PACA-AU 3 179466008 179466008 single base substitution T C intron_variant PACA-AU 3 179468114 179468114 single base substitution G A intron_variant PACA-AU 3 179468398 179468398 single base substitution T C intron_variant PACA-AU 3 179468488 179468488 single base substitution T G intron_variant PACA-AU 3 179473370 179473370 single base substitution G C intron_variant PACA-AU 3 179478073 179478073 single base substitution T G downstream_gene_variant PACA-AU 3 179478073 179478073 single base substitution T G intron_variant PACA-AU 3 179479958 179479958 single base substitution A G downstream_gene_variant PACA-AU 3 179479958 179479958 single base substitution A G intron_variant PACA-AU 3 179481008 179481008 single base substitution G A downstream_gene_variant PACA-AU 3 179481008 179481008 single base substitution G A intron_variant PACA-AU 3 179481114 179481114 single base substitution T G downstream_gene_variant PACA-AU 3 179481114 179481114 single base substitution T G intron_variant PACA-AU 3 179481478 179481478 single base substitution G A downstream_gene_variant PACA-AU 3 179481478 179481478 single base substitution G A intron_variant PACA-AU 3 179495703 179495703 single base substitution T G intron_variant PACA-AU 3 179495765 179495765 single base substitution G T intron_variant PACA-AU 3 179496903 179496903 single base substitution G A intron_variant PACA-AU 3 179498663 179498663 deletion of <=200bp T - intron_variant PACA-AU 3 179502335 179502335 single base substitution T A 3_prime_UTR_variant PACA-AU 3 179502335 179502335 single base substitution T A downstream_gene_variant PACA-AU 3 179503352 179503352 single base substitution T A 3_prime_UTR_variant PACA-AU 3 179503352 179503352 single base substitution T A downstream_gene_variant PACA-AU 3 179503905 179503905 single base substitution G C 3_prime_UTR_variant PACA-AU 3 179503905 179503905 single base substitution G C downstream_gene_variant PACA-AU 3 179507679 179507679 single base substitution A G downstream_gene_variant PACA-AU 3 179508607 179508621 deletion of <=200bp TATGCACTGTTGAAT - downstream_gene_variant PACA-AU 3 179508628 179508628 single base substitution T G downstream_gene_variant PACA-AU 3 179510338 179510338 single base substitution C G downstream_gene_variant PACA-AU 3 179512036 179512036 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 179368317 179368317 single base substitution A C upstream_gene_variant PACA-CA 3 179374547 179374547 single base substitution C T intron_variant PACA-CA 3 179375713 179375713 single base substitution G A intron_variant PACA-CA 3 179377000 179377000 deletion of <=200bp A - intron_variant PACA-CA 3 179379217 179379217 single base substitution T C intron_variant PACA-CA 3 179379536 179379536 single base substitution A G intron_variant PACA-CA 3 179381344 179381344 single base substitution A T intron_variant PACA-CA 3 179385802 179385802 single base substitution G A intron_variant PACA-CA 3 179390043 179390043 single base substitution T C intron_variant PACA-CA 3 179398508 179398508 single base substitution C T intron_variant PACA-CA 3 179400641 179400641 single base substitution A C intron_variant PACA-CA 3 179402400 179402400 single base substitution T G intron_variant PACA-CA 3 179405887 179405887 single base substitution G A intron_variant PACA-CA 3 179408127 179408128 deletion of <=200bp TG - intron_variant PACA-CA 3 179408493 179408493 single base substitution T C intron_variant PACA-CA 3 179409884 179409884 single base substitution C A intron_variant PACA-CA 3 179412012 179412012 single base substitution C G intron_variant PACA-CA 3 179414231 179414231 single base substitution G A intron_variant PACA-CA 3 179420975 179420975 single base substitution G T intron_variant PACA-CA 3 179421709 179421709 single base substitution G T intron_variant PACA-CA 3 179427177 179427177 single base substitution C T downstream_gene_variant PACA-CA 3 179427177 179427177 single base substitution C T intron_variant PACA-CA 3 179429444 179429444 single base substitution T G downstream_gene_variant PACA-CA 3 179429444 179429444 single base substitution T G intron_variant PACA-CA 3 179433049 179433049 single base substitution A G intron_variant PACA-CA 3 179440107 179440107 single base substitution G C intron_variant PACA-CA 3 179444706 179444706 single base substitution A G intron_variant PACA-CA 3 179452487 179452487 single base substitution G T intron_variant PACA-CA 3 179453218 179453218 single base substitution A T intron_variant PACA-CA 3 179455070 179455070 single base substitution C T intron_variant PACA-CA 3 179460413 179460413 single base substitution A T intron_variant PACA-CA 3 179461143 179461143 single base substitution A G intron_variant PACA-CA 3 179465529 179465529 single base substitution C T intron_variant PACA-CA 3 179466405 179466405 single base substitution A G intron_variant PACA-CA 3 179466803 179466803 deletion of <=200bp T - intron_variant PACA-CA 3 179468116 179468116 single base substitution A G intron_variant PACA-CA 3 179480801 179480801 single base substitution T C downstream_gene_variant PACA-CA 3 179480801 179480801 single base substitution T C intron_variant PACA-CA 3 179484303 179484303 single base substitution C G intron_variant PACA-CA 3 179487756 179487756 single base substitution G A intron_variant PACA-CA 3 179488552 179488552 single base substitution C A intron_variant PACA-CA 3 179494169 179494169 single base substitution C T intron_variant PACA-CA 3 179495696 179495696 single base substitution C T intron_variant PACA-CA 3 179496130 179496130 single base substitution C A intron_variant PACA-CA 3 179500487 179500487 single base substitution C A intron_variant PACA-CA 3 179500542 179500542 insertion of <=200bp - T intron_variant PACA-CA 3 179500543 179500544 deletion of <=200bp TT - intron_variant PACA-CA 3 179502118 179502118 single base substitution T G 3_prime_UTR_variant PACA-CA 3 179502803 179502803 single base substitution C T 3_prime_UTR_variant PACA-CA 3 179502803 179502803 single base substitution C T downstream_gene_variant PACA-CA 3 179511581 179511581 single base substitution A G downstream_gene_variant PAEN-AU 3 179383809 179383809 single base substitution G T intron_variant PAEN-AU 3 179444823 179444823 single base substitution A G intron_variant PAEN-AU 3 179477530 179477530 single base substitution C T downstream_gene_variant PAEN-AU 3 179477530 179477530 single base substitution C T intron_variant PAEN-AU 3 179479214 179479214 single base substitution A T downstream_gene_variant PAEN-AU 3 179479214 179479214 single base substitution A T intron_variant PAEN-IT 3 179373798 179373798 single base substitution C T intron_variant PAEN-IT 3 179394988 179394988 single base substitution C G intron_variant PAEN-IT 3 179428185 179428185 single base substitution C T downstream_gene_variant PAEN-IT 3 179428185 179428185 single base substitution C T intron_variant PBCA-DE 3 179365660 179365660 single base substitution T A upstream_gene_variant PBCA-DE 3 179366776 179366776 deletion of <=200bp C - upstream_gene_variant PBCA-DE 3 179370288 179370288 single base substitution A C upstream_gene_variant PBCA-DE 3 179382040 179382040 single base substitution C T intron_variant PBCA-DE 3 179383509 179383509 single base substitution G A intron_variant PBCA-DE 3 179393325 179393325 insertion of <=200bp - TTA intron_variant PBCA-DE 3 179394394 179394394 single base substitution C T intron_variant PBCA-DE 3 179394610 179394610 single base substitution G T intron_variant PBCA-DE 3 179394946 179394946 single base substitution A C intron_variant PBCA-DE 3 179402045 179402045 single base substitution C T intron_variant PBCA-DE 3 179405939 179405939 single base substitution G A intron_variant PBCA-DE 3 179408991 179408991 single base substitution T A intron_variant PBCA-DE 3 179409655 179409655 single base substitution G T intron_variant PBCA-DE 3 179419811 179419811 insertion of <=200bp - T intron_variant PBCA-DE 3 179422802 179422802 single base substitution G A intron_variant PBCA-DE 3 179440757 179440757 single base substitution G C intron_variant PBCA-DE 3 179440985 179440985 single base substitution G A intron_variant PBCA-DE 3 179445492 179445492 insertion of <=200bp - G intron_variant PBCA-DE 3 179452908 179452908 single base substitution T C intron_variant PBCA-DE 3 179459994 179459994 single base substitution A T exon_variant PBCA-DE 3 179459994 179459994 single base substitution A T missense_variant I110F 328A>T PBCA-DE 3 179459994 179459994 single base substitution A T missense_variant I399F 1195A>T PBCA-DE 3 179459994 179459994 single base substitution A T missense_variant I464F 1390A>T PBCA-DE 3 179462247 179462247 insertion of <=200bp - A intron_variant PBCA-DE 3 179463018 179463018 single base substitution A G intron_variant PBCA-DE 3 179469674 179469674 single base substitution T G intron_variant PBCA-DE 3 179476199 179476199 single base substitution C A downstream_gene_variant PBCA-DE 3 179476199 179476199 single base substitution C A intron_variant PBCA-DE 3 179482250 179482250 single base substitution G T downstream_gene_variant PBCA-DE 3 179482250 179482250 single base substitution G T intron_variant PBCA-DE 3 179487040 179487040 single base substitution T C intron_variant PBCA-DE 3 179488434 179488434 insertion of <=200bp - C intron_variant PRAD-CA 3 179366761 179366761 single base substitution C A upstream_gene_variant PRAD-CA 3 179405887 179405887 single base substitution G A intron_variant PRAD-CA 3 179405933 179405933 single base substitution C A intron_variant PRAD-CA 3 179469526 179469526 single base substitution T G intron_variant PRAD-CA 3 179474194 179474194 single base substitution T C intron_variant PRAD-CA 3 179484531 179484531 single base substitution C G intron_variant PRAD-UK 3 179368714 179368714 single base substitution A C upstream_gene_variant PRAD-UK 3 179410441 179410441 deletion of <=200bp G - intron_variant PRAD-UK 3 179412238 179412238 single base substitution C T intron_variant PRAD-UK 3 179448941 179448941 single base substitution A T intron_variant PRAD-UK 3 179451571 179451571 single base substitution A C intron_variant PRAD-UK 3 179476575 179476575 single base substitution C T downstream_gene_variant PRAD-UK 3 179476575 179476575 single base substitution C T intron_variant PRAD-UK 3 179485372 179485372 single base substitution T C intron_variant READ-US 3 179399745 179399745 single base substitution A C exon_variant READ-US 3 179399745 179399745 single base substitution A C missense_variant K18T 53A>C READ-US 3 179399745 179399745 single base substitution A C missense_variant K83T 248A>C RECA-EU 3 179373346 179373346 single base substitution T G intron_variant RECA-EU 3 179373349 179373349 single base substitution T G intron_variant RECA-EU 3 179375568 179375568 single base substitution A G intron_variant RECA-EU 3 179378629 179378629 single base substitution T C intron_variant RECA-EU 3 179387917 179387917 single base substitution G A intron_variant RECA-EU 3 179390967 179390967 single base substitution T C intron_variant RECA-EU 3 179405965 179405965 single base substitution C T intron_variant RECA-EU 3 179405970 179405970 single base substitution C A intron_variant RECA-EU 3 179405978 179405978 single base substitution C A intron_variant RECA-EU 3 179412442 179412442 single base substitution A T intron_variant RECA-EU 3 179412591 179412591 single base substitution A G intron_variant RECA-EU 3 179434276 179434276 single base substitution A G intron_variant RECA-EU 3 179437612 179437612 single base substitution G A intron_variant RECA-EU 3 179437612 179437612 single base substitution G A upstream_gene_variant RECA-EU 3 179440174 179440174 single base substitution A G intron_variant RECA-EU 3 179451216 179451216 single base substitution A T intron_variant RECA-EU 3 179456518 179456518 single base substitution T A intron_variant RECA-EU 3 179457757 179457757 single base substitution T G intron_variant RECA-EU 3 179464651 179464651 single base substitution C A intron_variant RECA-EU 3 179464805 179464805 single base substitution G T intron_variant RECA-EU 3 179468764 179468764 single base substitution A G intron_variant RECA-EU 3 179470319 179470319 single base substitution G A intron_variant RECA-EU 3 179494251 179494251 single base substitution G C intron_variant RECA-EU 3 179494317 179494317 single base substitution G T intron_variant RECA-EU 3 179495468 179495468 single base substitution G A intron_variant SKCA-BR 3 179365747 179365747 single base substitution C T upstream_gene_variant SKCA-BR 3 179365748 179365748 single base substitution C T upstream_gene_variant SKCA-BR 3 179366339 179366339 single base substitution G A upstream_gene_variant SKCA-BR 3 179366868 179366868 insertion of <=200bp - TTGTG upstream_gene_variant SKCA-BR 3 179367638 179367639 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 3 179367805 179367806 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 3 179370738 179370738 single base substitution T C 5_prime_UTR_variant SKCA-BR 3 179370738 179370738 single base substitution T C upstream_gene_variant SKCA-BR 3 179371154 179371154 single base substitution C T exon_variant SKCA-BR 3 179371154 179371154 single base substitution C T synonymous_variant N47N 141C>T SKCA-BR 3 179371154 179371154 single base substitution C T upstream_gene_variant SKCA-BR 3 179371541 179371541 single base substitution A G intron_variant SKCA-BR 3 179372175 179372175 single base substitution G A intron_variant SKCA-BR 3 179372558 179372558 single base substitution C T intron_variant SKCA-BR 3 179373321 179373321 single base substitution C G intron_variant SKCA-BR 3 179373336 179373336 insertion of <=200bp - GT intron_variant SKCA-BR 3 179373345 179373345 single base substitution G T intron_variant SKCA-BR 3 179373346 179373346 single base substitution T G intron_variant SKCA-BR 3 179373349 179373349 single base substitution T G intron_variant SKCA-BR 3 179373350 179373350 single base substitution G T intron_variant SKCA-BR 3 179376983 179376983 single base substitution T G intron_variant SKCA-BR 3 179377650 179377650 single base substitution T G intron_variant SKCA-BR 3 179379452 179379452 single base substitution T G intron_variant SKCA-BR 3 179382115 179382115 single base substitution C A intron_variant SKCA-BR 3 179383048 179383048 single base substitution G A intron_variant SKCA-BR 3 179387954 179387954 single base substitution C T intron_variant SKCA-BR 3 179389249 179389249 single base substitution C T intron_variant SKCA-BR 3 179390300 179390348 deletion of <=200bp ATAGCTGGGACTACAGGTGTGTACCACCATGCGCGGCTAATTTTTTTGT - intron_variant SKCA-BR 3 179398155 179398155 insertion of <=200bp - AT intron_variant SKCA-BR 3 179398508 179398508 single base substitution C T intron_variant SKCA-BR 3 179398803 179398803 single base substitution C T intron_variant SKCA-BR 3 179400177 179400177 single base substitution C A intron_variant SKCA-BR 3 179401108 179401108 single base substitution T G intron_variant SKCA-BR 3 179401362 179401362 single base substitution G A intron_variant SKCA-BR 3 179401670 179401670 single base substitution T G intron_variant SKCA-BR 3 179402068 179402068 insertion of <=200bp - CACACACACAG intron_variant SKCA-BR 3 179405887 179405887 insertion of <=200bp - GTCCATCCATCCATCCATCCA intron_variant SKCA-BR 3 179405977 179405977 single base substitution T C intron_variant SKCA-BR 3 179407384 179407384 single base substitution T C intron_variant SKCA-BR 3 179407969 179407969 single base substitution C T intron_variant SKCA-BR 3 179410723 179410723 single base substitution C T intron_variant SKCA-BR 3 179410870 179410870 single base substitution C T intron_variant SKCA-BR 3 179412590 179412590 insertion of <=200bp - AG intron_variant SKCA-BR 3 179413491 179413491 single base substitution C T intron_variant SKCA-BR 3 179414746 179414746 single base substitution T C intron_variant SKCA-BR 3 179419553 179419553 single base substitution C G intron_variant SKCA-BR 3 179420666 179420666 single base substitution T G intron_variant SKCA-BR 3 179425512 179425512 single base substitution A G intron_variant SKCA-BR 3 179425898 179425898 single base substitution C T intron_variant SKCA-BR 3 179430636 179430636 single base substitution C T downstream_gene_variant SKCA-BR 3 179430636 179430636 single base substitution C T intron_variant SKCA-BR 3 179431165 179431165 single base substitution C T downstream_gene_variant SKCA-BR 3 179431165 179431165 single base substitution C T intron_variant SKCA-BR 3 179432651 179432651 single base substitution C T intron_variant SKCA-BR 3 179433155 179433155 insertion of <=200bp - CT intron_variant SKCA-BR 3 179435458 179435458 insertion of <=200bp - TC intron_variant SKCA-BR 3 179435458 179435458 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 3 179436484 179436484 single base substitution A G intron_variant SKCA-BR 3 179436484 179436484 single base substitution A G upstream_gene_variant SKCA-BR 3 179438224 179438224 single base substitution G A intron_variant SKCA-BR 3 179438224 179438224 single base substitution G A upstream_gene_variant SKCA-BR 3 179438599 179438599 insertion of <=200bp - CT intron_variant SKCA-BR 3 179438599 179438599 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 3 179440352 179440352 single base substitution A G intron_variant SKCA-BR 3 179445131 179445131 single base substitution T A intron_variant SKCA-BR 3 179445516 179445516 single base substitution C T intron_variant SKCA-BR 3 179446010 179446010 single base substitution A G intron_variant SKCA-BR 3 179446770 179446770 insertion of <=200bp - AAGAGGG intron_variant SKCA-BR 3 179448583 179448583 single base substitution C T intron_variant SKCA-BR 3 179449793 179449793 single base substitution G A intron_variant SKCA-BR 3 179452283 179452283 single base substitution C T intron_variant SKCA-BR 3 179453192 179453192 single base substitution C T intron_variant SKCA-BR 3 179455093 179455093 single base substitution C T intron_variant SKCA-BR 3 179455751 179455751 single base substitution A C intron_variant SKCA-BR 3 179458248 179458248 single base substitution G A intron_variant SKCA-BR 3 179458272 179458272 single base substitution C T intron_variant SKCA-BR 3 179458712 179458712 single base substitution G A intron_variant SKCA-BR 3 179458943 179458943 single base substitution C T intron_variant SKCA-BR 3 179458947 179458947 single base substitution C T intron_variant SKCA-BR 3 179459299 179459299 single base substitution T C intron_variant SKCA-BR 3 179459309 179459310 deletion of <=200bp AT - intron_variant SKCA-BR 3 179459388 179459388 single base substitution A G intron_variant SKCA-BR 3 179462178 179462178 single base substitution A T intron_variant SKCA-BR 3 179462517 179462517 single base substitution C T intron_variant SKCA-BR 3 179463297 179463297 single base substitution C T intron_variant SKCA-BR 3 179464243 179464243 single base substitution G A intron_variant SKCA-BR 3 179464760 179464760 single base substitution C A intron_variant SKCA-BR 3 179465529 179465529 single base substitution C G intron_variant SKCA-BR 3 179466018 179466018 single base substitution C T intron_variant SKCA-BR 3 179468094 179468114 deletion of <=200bp ATATATATATATATATGTGTG - intron_variant SKCA-BR 3 179468114 179468114 insertion of <=200bp - GTATA intron_variant SKCA-BR 3 179470859 179470859 single base substitution A G intron_variant SKCA-BR 3 179470938 179470938 single base substitution A T intron_variant SKCA-BR 3 179473317 179473317 single base substitution A C intron_variant SKCA-BR 3 179480762 179480762 single base substitution T C downstream_gene_variant SKCA-BR 3 179480762 179480762 single base substitution T C intron_variant SKCA-BR 3 179489882 179489882 single base substitution C T intron_variant SKCA-BR 3 179493291 179493291 single base substitution C T intron_variant SKCA-BR 3 179498146 179498146 single base substitution G A intron_variant SKCA-BR 3 179501571 179501571 single base substitution C T intron_variant SKCA-BR 3 179506556 179506556 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 179506556 179506556 single base substitution G A downstream_gene_variant SKCA-BR 3 179509669 179509669 single base substitution C T downstream_gene_variant SKCM-US 3 179437811 179437811 single base substitution C T exon_variant SKCM-US 3 179437811 179437811 single base substitution C T missense_variant H232Y 694C>T SKCM-US 3 179437811 179437811 single base substitution C T missense_variant H297Y 889C>T SKCM-US 3 179437811 179437811 single base substitution C T upstream_gene_variant SKCM-US 3 179460024 179460024 single base substitution C T exon_variant SKCM-US 3 179460024 179460024 single base substitution C T missense_variant R120C 358C>T SKCM-US 3 179460024 179460024 single base substitution C T missense_variant R409C 1225C>T SKCM-US 3 179460024 179460024 single base substitution C T missense_variant R474C 1420C>T SKCM-US 3 179470094 179470094 single base substitution C T intron_variant SKCM-US 3 179470094 179470094 single base substitution C T synonymous_variant F223F 669C>T SKCM-US 3 179470094 179470094 single base substitution C T synonymous_variant F512F 1536C>T SKCM-US 3 179470094 179470094 single base substitution C T synonymous_variant F577F 1731C>T SKCM-US 3 179483632 179483632 single base substitution T C downstream_gene_variant SKCM-US 3 179483632 179483632 single base substitution T C synonymous_variant S738S 2214T>C SKCM-US 3 179483632 179483632 single base substitution T C synonymous_variant S803S 2409T>C SKCM-US 3 179501868 179501868 single base substitution C T missense_variant A779V 2336C>T SKCM-US 3 179501868 179501868 single base substitution C T missense_variant A844V 2531C>T STAD-US 3 179408081 179408081 deletion of <=200bp T - exon_variant STAD-US 3 179408081 179408081 deletion of <=200bp T - frameshift_variant I116 STAD-US 3 179408081 179408081 deletion of <=200bp T - frameshift_variant I51 STAD-US 3 179408081 179408081 deletion of <=200bp T - intron_variant STAD-US 3 179424791 179424791 single base substitution G A 3_prime_UTR_variant STAD-US 3 179424791 179424791 single base substitution G A exon_variant STAD-US 3 179424791 179424791 single base substitution G A missense_variant E118K 352G>A STAD-US 3 179424791 179424791 single base substitution G A missense_variant E183K 547G>A STAD-US 3 179426569 179426569 single base substitution A T 3_prime_UTR_variant STAD-US 3 179426569 179426569 single base substitution A T exon_variant STAD-US 3 179426569 179426569 single base substitution A T missense_variant K145M 434A>T STAD-US 3 179426569 179426569 single base substitution A T missense_variant K210M 629A>T STAD-US 3 179437789 179437789 single base substitution G A exon_variant STAD-US 3 179437789 179437789 single base substitution G A synonymous_variant A224A 672G>A STAD-US 3 179437789 179437789 single base substitution G A synonymous_variant A289A 867G>A STAD-US 3 179437789 179437789 single base substitution G A upstream_gene_variant STAD-US 3 179448448 179448448 single base substitution C A exon_variant STAD-US 3 179448448 179448448 single base substitution C A missense_variant P337H 1010C>A STAD-US 3 179448448 179448448 single base substitution C A missense_variant P402H 1205C>A STAD-US 3 179448448 179448448 single base substitution C A missense_variant P48H 143C>A STAD-US 3 179459996 179459996 single base substitution C T exon_variant STAD-US 3 179459996 179459996 single base substitution C T synonymous_variant I110I 330C>T STAD-US 3 179459996 179459996 single base substitution C T synonymous_variant I399I 1197C>T STAD-US 3 179459996 179459996 single base substitution C T synonymous_variant I464I 1392C>T STAD-US 3 179459997 179459997 single base substitution G A exon_variant STAD-US 3 179459997 179459997 single base substitution G A missense_variant G111S 331G>A STAD-US 3 179459997 179459997 single base substitution G A missense_variant G400S 1198G>A STAD-US 3 179459997 179459997 single base substitution G A missense_variant G465S 1393G>A STAD-US 3 179460107 179460107 single base substitution A T exon_variant STAD-US 3 179460107 179460107 single base substitution A T missense_variant L147F 441A>T STAD-US 3 179460107 179460107 single base substitution A T missense_variant L436F 1308A>T STAD-US 3 179460107 179460107 single base substitution A T missense_variant L501F 1503A>T STAD-US 3 179462842 179462842 single base substitution G A exon_variant STAD-US 3 179462842 179462842 single base substitution G A missense_variant A162T 484G>A STAD-US 3 179462842 179462842 single base substitution G A missense_variant A451T 1351G>A STAD-US 3 179462842 179462842 single base substitution G A missense_variant A516T 1546G>A STAD-US 3 179472611 179472611 deletion of <=200bp C - exon_variant STAD-US 3 179472611 179472611 deletion of <=200bp C - frameshift_variant S276 STAD-US 3 179472611 179472611 deletion of <=200bp C - frameshift_variant S565 STAD-US 3 179472611 179472611 deletion of <=200bp C - frameshift_variant S630 STAD-US 3 179474842 179474842 single base substitution C T intron_variant STAD-US 3 179474842 179474842 single base substitution C T missense_variant R577C 1729C>T STAD-US 3 179474842 179474842 single base substitution C T missense_variant R642C 1924C>T STAD-US 3 179474842 179474842 single base substitution C T splice_region_variant STAD-US 3 179478997 179478997 single base substitution C T downstream_gene_variant STAD-US 3 179478997 179478997 single base substitution C T synonymous_variant G617G 1851C>T STAD-US 3 179478997 179478997 single base substitution C T synonymous_variant G682G 2046C>T THCA-SA 3 179504225 179504225 single base substitution A G 3_prime_UTR_variant THCA-SA 3 179504225 179504225 single base substitution A G downstream_gene_variant THCA-SA 3 179504545 179504545 single base substitution G A 3_prime_UTR_variant THCA-SA 3 179504545 179504545 single base substitution G A downstream_gene_variant THCA-SA 3 179506721 179506721 single base substitution G C 3_prime_UTR_variant THCA-SA 3 179506721 179506721 single base substitution G C downstream_gene_variant UCEC-US 3 179399696 179399696 single base substitution A C exon_variant UCEC-US 3 179399696 179399696 single base substitution A C missense_variant N2H 4A>C UCEC-US 3 179399696 179399696 single base substitution A C missense_variant N67H 199A>C UCEC-US 3 179418824 179418824 single base substitution C T 3_prime_UTR_variant UCEC-US 3 179418824 179418824 single base substitution C T exon_variant UCEC-US 3 179418824 179418824 single base substitution C T synonymous_variant S128S 384C>T UCEC-US 3 179418824 179418824 single base substitution C T synonymous_variant S63S 189C>T UCEC-US 3 179418828 179418828 single base substitution G A 3_prime_UTR_variant UCEC-US 3 179418828 179418828 single base substitution G A exon_variant UCEC-US 3 179418828 179418828 single base substitution G A missense_variant D130N 388G>A UCEC-US 3 179418828 179418828 single base substitution G A missense_variant D65N 193G>A UCEC-US 3 179424772 179424772 single base substitution G T 3_prime_UTR_variant UCEC-US 3 179424772 179424772 single base substitution G T exon_variant UCEC-US 3 179424772 179424772 single base substitution G T missense_variant K111N 333G>T UCEC-US 3 179424772 179424772 single base substitution G T missense_variant K176N 528G>T UCEC-US 3 179424786 179424786 single base substitution C T 3_prime_UTR_variant UCEC-US 3 179424786 179424786 single base substitution C T exon_variant UCEC-US 3 179424786 179424786 single base substitution C T missense_variant T116M 347C>T UCEC-US 3 179424786 179424786 single base substitution C T missense_variant T181M 542C>T UCEC-US 3 179426598 179426598 single base substitution C T downstream_gene_variant UCEC-US 3 179426598 179426598 single base substitution C T exon_variant UCEC-US 3 179426598 179426598 single base substitution C T missense_variant L155F 463C>T UCEC-US 3 179426598 179426598 single base substitution C T missense_variant L220F 658C>T UCEC-US 3 179426658 179426658 single base substitution G T downstream_gene_variant UCEC-US 3 179426658 179426658 single base substitution G T exon_variant UCEC-US 3 179426658 179426658 single base substitution G T missense_variant G175W 523G>T UCEC-US 3 179426658 179426658 single base substitution G T missense_variant G240W 718G>T UCEC-US 3 179426675 179426675 single base substitution G A downstream_gene_variant UCEC-US 3 179426675 179426675 single base substitution G A exon_variant UCEC-US 3 179426675 179426675 single base substitution G A synonymous_variant A180A 540G>A UCEC-US 3 179426675 179426675 single base substitution G A synonymous_variant A245A 735G>A UCEC-US 3 179426714 179426714 single base substitution G T downstream_gene_variant UCEC-US 3 179426714 179426714 single base substitution G T exon_variant UCEC-US 3 179426714 179426714 single base substitution G T synonymous_variant V193V 579G>T UCEC-US 3 179426714 179426714 single base substitution G T synonymous_variant V258V 774G>T UCEC-US 3 179426715 179426715 single base substitution A G downstream_gene_variant UCEC-US 3 179426715 179426715 single base substitution A G exon_variant UCEC-US 3 179426715 179426715 single base substitution A G missense_variant K194E 580A>G UCEC-US 3 179426715 179426715 single base substitution A G missense_variant K259E 775A>G UCEC-US 3 179437789 179437789 single base substitution G A exon_variant UCEC-US 3 179437789 179437789 single base substitution G A synonymous_variant A224A 672G>A UCEC-US 3 179437789 179437789 single base substitution G A synonymous_variant A289A 867G>A UCEC-US 3 179437789 179437789 single base substitution G A upstream_gene_variant UCEC-US 3 179448032 179448032 single base substitution G T exon_variant UCEC-US 3 179448032 179448032 single base substitution G T missense_variant D28Y 82G>T UCEC-US 3 179448032 179448032 single base substitution G T missense_variant D317Y 949G>T UCEC-US 3 179448032 179448032 single base substitution G T missense_variant D382Y 1144G>T UCEC-US 3 179448033 179448033 single base substitution A T exon_variant UCEC-US 3 179448033 179448033 single base substitution A T missense_variant D28V 83A>T UCEC-US 3 179448033 179448033 single base substitution A T missense_variant D317V 950A>T UCEC-US 3 179448033 179448033 single base substitution A T missense_variant D382V 1145A>T UCEC-US 3 179458059 179458059 single base substitution C T exon_variant UCEC-US 3 179458059 179458059 single base substitution C T missense_variant R362C 1084C>T UCEC-US 3 179458059 179458059 single base substitution C T missense_variant R427C 1279C>T UCEC-US 3 179458059 179458059 single base substitution C T missense_variant R73C 217C>T UCEC-US 3 179460015 179460015 single base substitution G A exon_variant UCEC-US 3 179460015 179460015 single base substitution G A missense_variant D117N 349G>A UCEC-US 3 179460015 179460015 single base substitution G A missense_variant D406N 1216G>A UCEC-US 3 179460015 179460015 single base substitution G A missense_variant D471N 1411G>A UCEC-US 3 179462841 179462841 single base substitution C T exon_variant UCEC-US 3 179462841 179462841 single base substitution C T synonymous_variant I161I 483C>T UCEC-US 3 179462841 179462841 single base substitution C T synonymous_variant I450I 1350C>T UCEC-US 3 179462841 179462841 single base substitution C T synonymous_variant I515I 1545C>T UCEC-US 3 179462921 179462921 single base substitution G T intron_variant UCEC-US 3 179462921 179462921 single base substitution G T missense_variant S188I 563G>T UCEC-US 3 179462921 179462921 single base substitution G T missense_variant S477I 1430G>T UCEC-US 3 179462921 179462921 single base substitution G T missense_variant S542I 1625G>T UCEC-US 3 179472564 179472564 single base substitution C T exon_variant UCEC-US 3 179472564 179472564 single base substitution C T stop_gained R261* 781C>T UCEC-US 3 179472564 179472564 single base substitution C T stop_gained R550* 1648C>T UCEC-US 3 179472564 179472564 single base substitution C T stop_gained R615* 1843C>T UCEC-US 3 179478994 179478994 single base substitution G A downstream_gene_variant UCEC-US 3 179478994 179478994 single base substitution G A missense_variant M616I 1848G>A UCEC-US 3 179478994 179478994 single base substitution G A missense_variant M681I 2043G>A UCEC-US 3 179483520 179483520 single base substitution G A downstream_gene_variant UCEC-US 3 179483520 179483520 single base substitution G A missense_variant S701N 2102G>A UCEC-US 3 179483520 179483520 single base substitution G A missense_variant S766N 2297G>A UCEC-US 3 179483543 179483543 single base substitution A G downstream_gene_variant UCEC-US 3 179483543 179483543 single base substitution A G missense_variant S709G 2125A>G UCEC-US 3 179483543 179483543 single base substitution A G missense_variant S774G 2320A>G UCEC-US 3 179483571 179483571 single base substitution A C downstream_gene_variant UCEC-US 3 179483571 179483571 single base substitution A C missense_variant N718T 2153A>C UCEC-US 3 179483571 179483571 single base substitution A C missense_variant N783T 2348A>C UCEC-US 3 179483592 179483592 single base substitution C A downstream_gene_variant UCEC-US 3 179483592 179483592 single base substitution C A missense_variant S725Y 2174C>A UCEC-US 3 179483592 179483592 single base substitution C A missense_variant S790Y 2369C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CZ-5470-01 COSM479750 c.1936C>A p.Q646K Substitution - Missense 3:179757066-179757066 + S00938 COSM5663442 c.1460G>C p.R487P Substitution - Missense 3:179742276-179742276 + TCGA-AA-3492-01 COSM1421074 c.346_347insT p.L118fs*6 Insertion - Frameshift 3:179690292-179690293 + TCGA-AX-A0J1-01 COSM1041607 c.2297G>A p.S766N Substitution - Missense 3:179765732-179765732 + TCGA-A8-A08Z-01 COSM446035 c.1960G>C p.D654H Substitution - Missense 3:179761123-179761123 + J80_T COSM3945169 c.2119G>T p.G707C Substitution - Missense 3:179764028-179764028 + TCGA-CD-5801-01 COSM4115484 c.629A>T p.K210M Substitution - Missense 3:179708781-179708781 + PT23_2 COSM5541464 c.2381C>T p.P794L Substitution - Missense 3:179765816-179765816 + EGC8 COSM1421080 c.1520C>T p.A507V Substitution - Missense 3:179742336-179742336 + HCC28T COSM1617232 c.1162A>G p.T388A Substitution - Missense 3:179730617-179730617 + pfg008T COSM1642183 c.974C>T p.T325M Substitution - Missense 3:179721475-179721475 + CHC892T COSM4793941 c.2421G>A p.E807E Substitution - coding silent 3:179781746-179781746 + TCGA-D1-A17Q-01 COSM1041572 c.388G>A p.D130N Substitution - Missense 3:179701040-179701040 + ESO-151 COSM1270041 c.1460G>A p.R487Q Substitution - Missense 3:179742276-179742276 + HCC46T COSM3660361 c.1688A>G p.Q563R Substitution - Missense 3:179745196-179745196 + ESCC-205T COSM3940407 c.585C>T p.L195L Substitution - coding silent 3:179707041-179707041 + 116T COSM1237969 c.296A>G p.K99R Substitution - Missense 3:179690242-179690242 + TCGA-BS-A0UV-01 COSM1041598 c.1411G>A p.D471N Substitution - Missense 3:179742227-179742227 + HCC013T COSM5807487 c.199A>T p.N67Y Substitution - Missense 3:179681908-179681908 + TCGA-A2-A0CR-01 COSM3846804 c.1117G>C p.D373H Substitution - Missense 3:179730217-179730217 + 013 COSM146083 c.1067G>A p.S356N Substitution - Missense 3:179721568-179721568 + TCGA-B5-A0JV-01 COSM1041596 c.1393G>A p.G465S Substitution - Missense 3:179742209-179742209 + CSCC-44-T COSM729775 c.1187C>T p.S396L Substitution - Missense 3:179730642-179730642 + TCGA-04-1369-01 COSM1327703 c.1263G>A p.Q421Q Substitution - coding silent 3:179740255-179740255 + pfg008T COSM1642185 c.1789delA p.K598fs*36 Deletion - Frameshift 3:179752364-179752364 + C086 COSM5541464 c.2381C>T p.P794L Substitution - Missense 3:179765816-179765816 + TCGA-AN-A046-01 COSM3724104 c.727G>A p.G243R Substitution - Missense 3:179708879-179708879 + PDA_009 COSM4998318 c.1363C>A p.L455M Substitution - Missense 3:179740355-179740355 + TCGA-CK-5916-01 COSM1421079 c.1388G>A p.R463H Substitution - Missense 3:179742204-179742204 + TCGA-AX-A05Z-01 COSM1041582 c.735G>A p.A245A Substitution - coding silent 3:179708887-179708887 + cSCCP7 COSM139491 c.1343C>T p.A448V Substitution - Missense 3:179740335-179740335 + PAPEFH COSM5004316 c.1089G>C p.A363A Substitution - coding silent 3:179730189-179730189 + TCGA-EE-A3AA-06 COSM3590432 c.2531C>T p.A844V Substitution - Missense 3:179784080-179784080 + ACINAR29 COSM1733675 c.2014C>T p.R672C Substitution - Missense 3:179761177-179761177 + TCGA-G2-A2EL-01 COSM1308852 c.1380+1G>A p.? Unknown 3:179740373-179740373 + CSCC-7-T COSM4465229 c.1372C>T p.L458L Substitution - coding silent 3:179740364-179740364 + cSCCP7 COSM139490 c.400G>A p.E134K Substitution - Missense 3:179701052-179701052 + PD3216a COSM1659095 c.915C>T p.L305L Substitution - coding silent 3:179721416-179721416 + CHC2200T COSM4952922 c.1597G>C p.E533Q Substitution - Missense 3:179745105-179745105 + ACINAR01 COSM1733674 c.1748T>C p.V583A Substitution - Missense 3:179752323-179752323 + RMH004-R2 COSM4411273 c.1017G>C p.K339N Substitution - Missense 3:179721518-179721518 + RMH004-R4 COSM4411273 c.1017G>C p.K339N Substitution - Missense 3:179721518-179721518 + TCGA-AP-A056-01 COSM1041586 c.775A>G p.K259E Substitution - Missense 3:179708927-179708927 + CHC1061T COSM3669113 c.1902C>A p.V634V Substitution - coding silent 3:179754835-179754835 + 256528 COSM3724940 c.797A>T p.D266V Substitution - Missense 3:179708949-179708949 + 399 COSM4429251 c.1764C>T p.F588F Substitution - coding silent 3:179752339-179752339 + STC291 COSM5059516 c.1255-1G>A p.? Unknown 3:179740246-179740246 + MD-324 COSM303526 c.475C>A p.L159M Substitution - Missense 3:179701127-179701127 + TCGA-GV-A3JZ-01 COSM1308850 c.72C>T p.I24I Substitution - coding silent 3:179653297-179653297 + Pat_70_A COSM5863976 c.2252G>A p.R751Q Substitution - Missense 3:179764161-179764161 + 587284 COSM1231960 c.1158G>T p.Q386H Substitution - Missense 3:179730258-179730258 + WSU-HN13 COSM4601575 c.1715C>G p.S572C Substitution - Missense 3:179752290-179752290 + Gp5D COSM1421074 c.346_347insT p.L118fs*6 Insertion - Frameshift 3:179690292-179690293 + TCGA-60-2726-01 COSM729776 c.1089G>T p.A363A Substitution - coding silent 3:179730189-179730189 + TCGA-G4-6309-01 COSM1421076 c.772G>A p.V258M Substitution - Missense 3:179708924-179708924 + TCGA-33-4532-01 COSM729780 c.270G>A p.M90I Substitution - Missense 3:179681979-179681979 + ESCC_BICR_017T COSM1041603 c.1843C>T p.R615* Substitution - Nonsense 3:179754776-179754776 + TCGA-BR-6802-01 COSM1495474 c.2046C>T p.G682G Substitution - coding silent 3:179761209-179761209 + 587376 COSM1231962 c.2047G>A p.A683T Substitution - Missense 3:179761210-179761210 + TCGA-66-2754-01 COSM729779 c.271C>T p.H91Y Substitution - Missense 3:179681980-179681980 + TCGA-BR-8382-01 COSM1041596 c.1393G>A p.G465S Substitution - Missense 3:179742209-179742209 + TCGA-43-3920-01 COSM729768 c.2534C>G p.S845* Substitution - Nonsense 3:179784083-179784083 + TCGA-AG-A002-01 COSM264595 c.245G>A p.R82Q Substitution - Missense 3:179681954-179681954 + TCGA-BR-7723-01 COSM4115486 c.1503A>T p.L501F Substitution - Missense 3:179742319-179742319 + TCGA-36-2530-01 COSM1327702 c.1788C>G p.P596P Substitution - coding silent 3:179752363-179752363 + TCGA-ER-A19K-01 COSM3590431 c.1731C>T p.F577F Substitution - coding silent 3:179752306-179752306 + STC263 COSM5059514 c.269T>C p.M90T Substitution - Missense 3:179681978-179681978 + 2492701 COSM5600830 c.1586G>A p.R529K Substitution - Missense 3:179745094-179745094 + PT45 COSM5927312 c.1315G>A p.E439K Substitution - Missense 3:179740307-179740307 + TCGA-AA-A00N-01 COSM278026 c.826G>T p.E276* Substitution - Nonsense 3:179719960-179719960 + LUAD-NYU1219 COSM370118 c.545G>T p.W182L Substitution - Missense 3:179707001-179707001 + TCGA-EE-A3JD-06 COSM4397307 c.1420C>T p.R474C Substitution - Missense 3:179742236-179742236 + HCT15 COSM3205912 c.789C>T p.I263I Substitution - coding silent 3:179708941-179708941 + PD23558a COSM5777595 c.1088C>A p.A363E Substitution - Missense 3:179721589-179721589 + TCGA-AA-A010-01 COSM286379 c.297G>T p.K99N Substitution - Missense 3:179690243-179690243 + HCC153T COSM5823224 c.258G>A p.Q86Q Substitution - coding silent 3:179681967-179681967 + CSCC-41-T COSM4537481 c.2428G>A p.A810T Substitution - Missense 3:179781753-179781753 + BCM337T COSM4799080 c.1522G>A p.A508T Substitution - Missense 3:179742338-179742338 + TCGA-F5-6814-01 COSM3427353 c.248A>C p.K83T Substitution - Missense 3:179681957-179681957 + TCGA-B5-A0JZ-01 COSM1041576 c.542C>T p.T181M Substitution - Missense 3:179706998-179706998 + 013-0035-01TD COSM146083 c.1067G>A p.S356N Substitution - Missense 3:179721568-179721568 + HCC47 COSM1617233 c.1193A>T p.Q398L Substitution - Missense 3:179730648-179730648 + TCGA-D7-A4YT-01 COSM377064 c.1392C>T p.I464I Substitution - coding silent 3:179742208-179742208 + 3N40-VS-3T40 COSM4981686 c.1050C>T p.V350V Substitution - coding silent 3:179721551-179721551 + Gp5D COSM3205942 c.2227C>T p.R743* Substitution - Nonsense 3:179764136-179764136 + TCGA-A4-8517-01 COSM3992881 c.771C>A p.A257A Substitution - coding silent 3:179708923-179708923 + ESCC_BICR_028T COSM5431796 c.437A>C p.Y146S Substitution - Missense 3:179701089-179701089 + TCGA-BR-4184-01 COSM1041588 c.867G>A p.A289A Substitution - coding silent 3:179720001-179720001 + I-04 COSM4767321 c.2410G>T p.G804* Substitution - Nonsense 3:179765845-179765845 + ESCC_133 COSM5642578 c.124G>T p.D42Y Substitution - Missense 3:179653349-179653349 + TCGA-AA-A02Y-01 COSM301077 c.650G>A p.R217Q Substitution - Missense 3:179708802-179708802 + HCT15 COSM3205909 c.648G>A p.L216L Substitution - coding silent 3:179708800-179708800 + pfg123T COSM4763882 c.2176A>T p.N726Y Substitution - Missense 3:179764085-179764085 + TCGA-37-4133-01 COSM729773 c.1410C>T p.S470S Substitution - coding silent 3:179742226-179742226 + TCGA-F4-6570-01 COSM1421078 c.1178G>A p.G393D Substitution - Missense 3:179730633-179730633 + TCGA-BS-A0UV-01 COSM1041613 c.2369C>A p.S790Y Substitution - Missense 3:179765804-179765804 + B96 COSM1041596 c.1393G>A p.G465S Substitution - Missense 3:179742209-179742209 + 8061185 COSM3392228 c.787A>G p.I263V Substitution - Missense 3:179708939-179708939 + TCGA-CG-4306-01 COSM4115485 c.1205C>A p.P402H Substitution - Missense 3:179730660-179730660 + RMS109_ COSM4987057 c.1438C>T p.R480C Substitution - Missense 3:179742254-179742254 + TCGA-33-4532-01 COSM729767 c.2540G>T p.R847M Substitution - Missense 3:179784089-179784089 + 258 COSM3724104 c.727G>A p.G243R Substitution - Missense 3:179708879-179708879 + SNU-175 COSM3205923 c.1267G>A p.G423R Substitution - Missense 3:179740259-179740259 + TCGA-BT-A42B-01 COSM4390065 c.1661T>C p.V554A Substitution - Missense 3:179745169-179745169 + RK101_C01 COSM3702369 c.1125G>T p.S375S Substitution - coding silent 3:179730225-179730225 + DLD1 COSM3205909 c.648G>A p.L216L Substitution - coding silent 3:179708800-179708800 + 19 COSM5746214 c.194G>A p.C65Y Substitution - Missense 3:179681903-179681903 + TCGA-AP-A056-01 COSM1041578 c.658C>T p.L220F Substitution - Missense 3:179708810-179708810 + TCGA-BS-A0UV-01 COSM1041584 c.774G>T p.V258V Substitution - coding silent 3:179708926-179708926 + 1604875 COSM141067 c.212C>T p.A71V Substitution - Missense 3:179681921-179681921 + ESCC_121 COSM5640562 c.2101G>A p.E701K Substitution - Missense 3:179764010-179764010 + TCGA-22-4599-01 COSM729777 c.690G>T p.L230L Substitution - coding silent 3:179708842-179708842 + TCGA-BH-A0W7-01 COSM446034 c.1948+1G>T p.? Unknown 3:179757079-179757079 + HCC46 COSM3660361 c.1688A>G p.Q563R Substitution - Missense 3:179745196-179745196 + ESCC_BICR_022T COSM5443058 c.164C>T p.S55F Substitution - Missense 3:179653389-179653389 + TCGA-B5-A0JZ-01 COSM1041570 c.384C>T p.S128S Substitution - coding silent 3:179701036-179701036 + SNU-C4 COSM4653657 c.1566G>A p.R522R Substitution - coding silent 3:179745074-179745074 + C086 COSM5541465 c.2382C>T p.P794P Substitution - coding silent 3:179765817-179765817 + S02293 COSM1041601 c.1625G>T p.S542I Substitution - Missense 3:179745133-179745133 + TCGA-FD-A3B5-01 COSM1308851 c.1339G>A p.D447N Substitution - Missense 3:179740331-179740331 + TCGA-46-3768-01 COSM729770 c.2218G>T p.G740* Substitution - Nonsense 3:179764127-179764127 + LUAD-NYU847 COSM376802 c.2288G>T p.W763L Substitution - Missense 3:179765723-179765723 + HCC47T COSM1617233 c.1193A>T p.Q398L Substitution - Missense 3:179730648-179730648 + YUBER COSM1693835 c.770C>T p.A257V Substitution - Missense 3:179708922-179708922 + TCGA-D8-A1XK-01 COSM4739642 c.347delT p.L118fs*1 Deletion - Frameshift 3:179690293-179690293 + TCGA-D1-A17Q-01 COSM1041601 c.1625G>T p.S542I Substitution - Missense 3:179745133-179745133 + PT37 COSM5918299 c.2491G>A p.E831K Substitution - Missense 3:179781816-179781816 + 587376 COSM1231961 c.1937A>G p.Q646R Substitution - Missense 3:179757067-179757067 + 862-01-10TD COSM5416568 c.2254G>C p.A752P Substitution - Missense 3:179764163-179764163 + TCGA-B1-A657-01 COSM4908155 c.1544T>A p.I515N Substitution - Missense 3:179745052-179745052 + PTC-70C COSM4157451 c.141C>T p.N47N Substitution - coding silent 3:179653366-179653366 + S01023 COSM5666642 c.964G>T p.E322* Substitution - Nonsense 3:179721465-179721465 + CSCC-16-T COSM4460891 c.1183C>T p.L395F Substitution - Missense 3:179730638-179730638 + S01022 COSM5666000 c.663G>A p.W221* Substitution - Nonsense 3:179708815-179708815 + TCGA-33-6737-01 COSM729775 c.1187C>T p.S396L Substitution - Missense 3:179730642-179730642 + Gp2D COSM3205942 c.2227C>T p.R743* Substitution - Nonsense 3:179764136-179764136 + TCGA-D1-A17Q-01 COSM1041580 c.718G>T p.G240W Substitution - Missense 3:179708870-179708870 + ESCC_74 COSM5634770 c.2173G>C p.D725H Substitution - Missense 3:179764082-179764082 + pfg008T COSM1642183 c.974C>T p.T325M Substitution - Missense 3:179721475-179721475 + TCGA-AX-A0J1-01 COSM1041605 c.2043G>A p.M681I Substitution - Missense 3:179761206-179761206 + CCK81 COSM1642185 c.1789delA p.K598fs*36 Deletion - Frameshift 3:179752364-179752364 + 8049749 COSM3392227 c.521A>G p.Y174C Substitution - Missense 3:179706977-179706977 + 134398 COSM326829 c.245G>C p.R82P Substitution - Missense 3:179681954-179681954 + Au2 COSM5600830 c.1586G>A p.R529K Substitution - Missense 3:179745094-179745094 + 2492700 COSM5600830 c.1586G>A p.R529K Substitution - Missense 3:179745094-179745094 + CHC892T COSM4793941 c.2421G>A p.E807E Substitution - coding silent 3:179781746-179781746 + TCGA-E2-A1LG-01 COSM1484880 c.1916C>A p.S639* Substitution - Nonsense 3:179754849-179754849 + TCGA-BS-A0UF-01 COSM1041590 c.1144G>T p.D382Y Substitution - Missense 3:179730244-179730244 + P154 COSM166994 c.643G>A p.D215N Substitution - Missense 3:179708795-179708795 + TCGA-AX-A0J1-01 COSM1041588 c.867G>A p.A289A Substitution - coding silent 3:179720001-179720001 + TCGA-24-1419-01 COSM80726 c.1986C>G p.A662A Substitution - coding silent 3:179761149-179761149 + TCGA-F4-6570-01 COSM1421081 c.1890delC p.I633fs*1 Deletion - Frameshift 3:179754823-179754823 + 2492703 COSM5600830 c.1586G>A p.R529K Substitution - Missense 3:179745094-179745094 + TCGA-04-1638-01 COSM1327704 c.37G>A p.G13S Substitution - Missense 3:179653262-179653262 + TCGA-CK-4950-01 COSM1421075 c.372C>T p.D124D Substitution - coding silent 3:179701024-179701024 + RKO COSM3205934 c.1850delG p.L619fs*15 Deletion - Frameshift 3:179754783-179754783 + DU-145 COSM1670720 c.1718G>T p.R573L Substitution - Missense 3:179752293-179752293 + TCGA-D1-A174-01 COSM1041603 c.1843C>T p.R615* Substitution - Nonsense 3:179754776-179754776 + TCGA-85-6561-01 COSM729778 c.650G>T p.R217L Substitution - Missense 3:179708802-179708802 + SNUH_G16_S1 COSM4002523 c.913C>T p.L305F Substitution - Missense 3:179721414-179721414 + T3306 COSM4739644 c.1004A>T p.Y335F Substitution - Missense 3:179721505-179721505 + J63_T COSM3945168 c.1537G>A p.E513K Substitution - Missense 3:179745045-179745045 + RK209_C01 COSM1632999 c.1538A>T p.E513V Substitution - Missense 3:179745046-179745046 + 2172 COSM5011217 c.1743G>T p.L581F Substitution - Missense 3:179752318-179752318 + CH-54-T2 COSM5650962 c.2575C>T p.R859C Substitution - Missense 3:179784124-179784124 + SE2 COSM1165748 c.771C>T p.A257A Substitution - coding silent 3:179708923-179708923 + TCGA-D1-A103-01 COSM1041611 c.2348A>C p.N783T Substitution - Missense 3:179765783-179765783 + CSCC-5-T COSM4535441 c.2191G>A p.E731K Substitution - Missense 3:179764100-179764100 + TCGA-B5-A0JY-01 COSM1041574 c.528G>T p.K176N Substitution - Missense 3:179706984-179706984 + 468 COSM4437488 c.1160+2T>A p.? Unknown 3:179730262-179730262 + HN_62739 COSM130108 c.2186C>T p.P729L Substitution - Missense 3:179764095-179764095 + T163 COSM307583 c.1010G>C p.G337A Substitution - Missense 3:179721511-179721511 + TCGA-CD-8527-01 COSM4115487 c.1546G>A p.A516T Substitution - Missense 3:179745054-179745054 + Pat_24_B COSM5863975 c.2228G>A p.R743Q Substitution - Missense 3:179764137-179764137 + LUAD-RT-S01777 COSM382314 c.2580G>T p.R860S Substitution - Missense 3:179784129-179784129 + pfg123T COSM4763883 c.2177A>G p.N726S Substitution - Missense 3:179764086-179764086 + TCGA-C4-A0F1-01 COSM419694 c.1432G>A p.E478K Substitution - Missense 3:179742248-179742248 + sysucc-274T COSM5476443 c.1987G>A p.E663K Substitution - Missense 3:179761150-179761150 + CHC1061T COSM3669113 c.1902C>A p.V634V Substitution - coding silent 3:179754835-179754835 + CSCC-49-T COSM4452943 c.2348A>T p.N783I Substitution - Missense 3:179765783-179765783 + TCGA-B5-A11E-01 COSM1041570 c.384C>T p.S128S Substitution - coding silent 3:179701036-179701036 + LUAD-S01302 COSM396028 c.919G>T p.D307Y Substitution - Missense 3:179721420-179721420 + T2940 COSM4739642 c.347delT p.L118fs*1 Deletion - Frameshift 3:179690293-179690293 + TCGA-DK-A1AB-01 COSM419696 c.171T>A p.N57K Substitution - Missense 3:179681880-179681880 + TCGA-AO-A128-01 COSM3846805 c.2390C>A p.P797H Substitution - Missense 3:179765825-179765825 + TCGA-AP-A0LM-01 COSM1041594 c.1279C>T p.R427C Substitution - Missense 3:179740271-179740271 + LP6007600 COSM1041576 c.542C>T p.T181M Substitution - Missense 3:179706998-179706998 + 1255_T COSM3945170 c.2317G>A p.D773N Substitution - Missense 3:179765752-179765752 + S02209 COSM5675334 c.38G>T p.G13V Substitution - Missense 3:179653263-179653263 + 587222 COSM1231959 c.130G>A p.V44I Substitution - Missense 3:179653355-179653355 + TCGA-66-2755-01 COSM729771 c.1970C>T p.S657L Substitution - Missense 3:179761133-179761133 + TCGA-CG-4469-01 COSM4115483 c.547G>A p.E183K Substitution - Missense 3:179707003-179707003 + tumor_4119027 COSM3357670 c.1709+7G>A p.? Unknown 3:179745224-179745224 + 2334199 COSM324210 c.898G>T p.G300W Substitution - Missense 3:179720032-179720032 + S01453 COSM316399 c.1476delG p.E493fs*6 Deletion - Frameshift 3:179742292-179742292 + TCGA-AN-A046-01 COSM3846802 c.169A>C p.N57H Substitution - Missense 3:179681878-179681878 + T578 COSM4739643 c.454A>C p.N152H Substitution - Missense 3:179701106-179701106 + TCGA-33-4583-01 COSM729774 c.1356C>G p.F452L Substitution - Missense 3:179740348-179740348 + LUAD-VUMN6 COSM348037 c.570A>T p.K190N Substitution - Missense 3:179707026-179707026 + TCGA-AX-A0J0-01 COSM1041568 c.199A>C p.N67H Substitution - Missense 3:179681908-179681908 + CHC1148T COSM4954817 c.2458A>G p.M820V Substitution - Missense 3:179781783-179781783 + ML_89_T_01 COSM4157451 c.141C>T p.N47N Substitution - coding silent 3:179653366-179653366 + STC246 COSM5059515 c.574G>A p.A192T Substitution - Missense 3:179707030-179707030 + LS411 COSM3205894 c.327delA p.R111fs*8 Deletion - Frameshift 3:179690273-179690273 + BD114T COSM5502810 c.1710-4C>T p.? Unknown 3:179752281-179752281 + NCI-H716 COSM3205908 c.634G>A p.A212T Substitution - Missense 3:179708786-179708786 + B96-Tumor COSM1041596 c.1393G>A p.G465S Substitution - Missense 3:179742209-179742209 + TCGA-CW-5585-01 COSM479749 c.1100A>G p.N367S Substitution - Missense 3:179730200-179730200 + TCGA-BS-A0UA-01 COSM1041570 c.384C>T p.S128S Substitution - coding silent 3:179701036-179701036 + TCGA-D8-A1XK-01 COSM3846803 c.600T>C p.N200N Substitution - coding silent 3:179707056-179707056 + T3064 COSM4739647 c.1737A>G p.E579E Substitution - coding silent 3:179752312-179752312 + CHC1148T COSM4954817 c.2458A>G p.M820V Substitution - Missense 3:179781783-179781783 + 013 COSM146083 c.1067G>A p.S356N Substitution - Missense 3:179721568-179721568 + 53M COSM5595539 c.1623T>C p.F541F Substitution - coding silent 3:179745131-179745131 + TCGA-D9-A6EC-06 COSM4406029 c.2409T>C p.S803S Substitution - coding silent 3:179765844-179765844 + TCGA-D3-A51G-06 COSM3590430 c.889C>T p.H297Y Substitution - Missense 3:179720023-179720023 + HCC28 COSM1617232 c.1162A>G p.T388A Substitution - Missense 3:179730617-179730617 + 2492702 COSM5600830 c.1586G>A p.R529K Substitution - Missense 3:179745094-179745094 + CSCC-7-T COSM4515827 c.1344_1345CC>TT p.Q449* Substitution - Nonsense 3:179740336-179740337 + S02344 COSM582497 c.211G>T p.A71S Substitution - Missense 3:179681920-179681920 + T407 COSM4739641 c.150C>A p.A50A Substitution - coding silent 3:179653375-179653375 + CSCC-62-T COSM4510697 c.845C>T p.P282L Substitution - Missense 3:179719979-179719979 + T3503 COSM4739645 c.1280G>A p.R427H Substitution - Missense 3:179740272-179740272 + TCGA-CG-4305-01 COSM4115488 c.1924C>T p.R642C Substitution - Missense 3:179757054-179757054 + LUAD-NYU947 COSM377064 c.1392C>T p.I464I Substitution - coding silent 3:179742208-179742208 + TCGA-AP-A056-01 COSM208823 c.1545C>T p.I515I Substitution - coding silent 3:179745053-179745053 + TCGA-B0-5098-01 COSM1495474 c.2046C>T p.G682G Substitution - coding silent 3:179761209-179761209 + pfg019T COSM1642184 c.1459C>A p.R487R Substitution - coding silent 3:179742275-179742275 + PD5935a COSM5772007 c.1880C>A p.P627Q Substitution - Missense 3:179754813-179754813 + HX35T COSM1617232 c.1162A>G p.T388A Substitution - Missense 3:179730617-179730617 + LP6005500-DNA_D02 COSM5032182 c.649C>T p.R217* Substitution - Nonsense 3:179708801-179708801 + ESCC_BICR_046T COSM5441965 c.1339G>T p.D447Y Substitution - Missense 3:179740331-179740331 + PD5925a COSM5788420 c.948G>A p.E316E Substitution - coding silent 3:179721449-179721449 + TCGA-B5-A11G-01 COSM1041609 c.2320A>G p.S774G Substitution - Missense 3:179765755-179765755 + TCGA-CF-A1HR-01 COSM419695 c.1224C>G p.L408L Substitution - coding silent 3:179730679-179730679 + S01453 COSM316399 c.1476delG p.E493fs*6 Deletion - Frameshift 3:179742292-179742292 + CSCC-18-T COSM4476375 c.2064C>T p.N688N Substitution - coding silent 3:179761227-179761227 + BCM337T COSM4799080 c.1522G>A p.A508T Substitution - Missense 3:179742338-179742338 + HN_62686 COSM130107 c.1681G>A p.A561T Substitution - Missense 3:179745189-179745189 + CHC2200T COSM4952922 c.1597G>C p.E533Q Substitution - Missense 3:179745105-179745105 + CSCC-31-T COSM4516505 c.1985_1986CC>TT p.A662V Substitution - Missense 3:179761148-179761149 + RK126_C01 COSM1633000 c.2498+2T>C p.? Unknown 3:179781825-179781825 + sysucc-1317T COSM3205892 c.308C>T p.A103V Substitution - Missense 3:179690254-179690254 + pfg008T COSM1642185 c.1789delA p.K598fs*36 Deletion - Frameshift 3:179752364-179752364 + LPJ128 COSM1316878 c.1715C>T p.S572F Substitution - Missense 3:179752290-179752290 + TCGA-D1-A15X-01 COSM1041592 c.1145A>T p.D382V Substitution - Missense 3:179730245-179730245 + TCGA-21-1077-01 COSM729772 c.1844G>T p.R615L Substitution - Missense 3:179754777-179754777 + T368 COSM4739646 c.1591C>A p.L531I Substitution - Missense 3:179745099-179745099 + H384 COSM5043478 c.195C>A p.C65* Substitution - Nonsense 3:179681904-179681904 + TCGA-AZ-4315-01 COSM1421077 c.975G>A p.T325T Substitution - coding silent 3:179721476-179721476 + HCC061T COSM5805763 c.1709+3A>T p.? Unknown 3:179745220-179745220 + CSCC-5-T COSM4543379 c.336G>A p.R112R Substitution - coding silent 3:179690282-179690282 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.175285;Hs.175316;Hs.175322 3q26.2-q26.3 603591

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.805+3325A>C 3 179430070 CLL A - Frameshift p.K598Nfs*36 c.1794delA 3 179470152 STAD A G 3-UTRSNV . c.2589+71A>G 3 179501997 ESCA A G Missense p.S774G c.2320A>G 3 179483543 UCEC A T Missense p.K210M c.629A>T 3 179426569 STAD A T Missense p.T753S c.2257A>T 3 179481954 LUAD C A Missense p.H297N c.889C>A 3 179437811 LUAD C A Missense p.P402H c.1205C>A 3 179448448 STAD C A Nonsense p.S639* c.1916C>A 3 179472637 BRCA C A Synonymous p.R487R c.1459C>A 3 179460063 STAD C G Missense p.F452L c.1356C>G 3 179458136 LUSC C G Missense p.S722C c.2165C>G 3 179481862 HNSC C G Nonsense p.S845* c.2534C>G 3 179501871 LUSC C G Synonymous p.A662A c.1986C>G 3 179478937 OV C G Synonymous p.L408L c.1224C>G 3 179448467 BLCA C T Missense p.A844V c.2531C>T 3 179501868 CM C T Missense p.H91Y c.271C>T 3 179399768 LUSC C T Missense p.P729L c.2186C>T 3 179481883 HNSC C T Missense p.R474C c.1420C>T 3 179460024 CM C T Missense p.R642C c.1924C>T 3 179474842 STAD C T Missense p.S396L c.1187C>T 3 179448430 LUSC C T Missense p.S657L c.1970C>T 3 179478921 LUSC C T Missense p.T181M c.542C>T 3 179424786 UCEC C T Missense p.T325M c.974C>T 3 179439263 STAD C T Nonsense p.R615* c.1843C>T 3 179472564 UCEC C T Synonymous p.F577F c.1731C>T 3 179470094 CM C T Synonymous p.G682G c.2046C>T 3 179478997 STAD C T Synonymous p.I24I c.72C>T 3 179371085 BLCA C T Synonymous p.S128S c.384C>T 3 179418824 UCEC C T Synonymous p.S470S c.1410C>T 3 179460014 LUSC G A Missense p.A561T c.1681G>A 3 179462977 HNSC G A Missense p.D447N c.1339G>A 3 179458119 BLCA G A Missense p.E183K c.547G>A 3 179424791 STAD G A Missense p.E478K c.1432G>A 3 179460036 BLCA G A Missense p.G227D c.680G>A 3 179426620 CM G A Missense p.M90I c.270G>A 3 179399767 LUSC G A Missense p.R217Q c.650G>A 3 179426590 COREAD G A Missense p.R487Q c.1460G>A 3 179460064 ESCA G A Missense p.S630N c.1889G>A 3 179472610 MM G A SpliceDonorSNV . c.1380+1G>A 3 179458161 BLCA G A Synonymous p.P426P c.1278G>A 3 179458058 MB G C Missense p.D654H c.1960G>C 3 179478911 BRCA G C Missense p.R82P c.245G>C 3 179399742 SCLC G - Frameshift p.E493Rfs*6 c.1477delG 3 179460080 SCLC GG TT Missense p.G393F c.1177_1178delinsTT 3 179448420 LUAD G T IntronicSNV . c.355+18G>T 3 179408107 CLL G T Missense p.A71S c.211G>T 3 179399708 LUAD G T Missense p.G300W c.898G>T 3 179437820 SCLC G T Missense p.R217L c.650G>T 3 179426590 LUSC G T Missense p.R615L c.1844G>T 3 179472565 LUSC G T Missense p.R847M c.2540G>T 3 179501877 LUSC G T Nonsense p.E791* c.2371G>T 3 179483594 LUAD G T Nonsense p.G740* c.2218G>T 3 179481915 LUSC G T SpliceAcceptorSNV . c.1799-1G>T 3 179472519 HNSC G T SpliceDonorSNV . c.1948+1G>T 3 179474867 BRCA G T Synonymous p.A363A c.1089G>T 3 179447977 LUSC G T Synonymous p.L230L c.690G>T 3 179426630 LUSC T A Missense p.N57K c.171T>A 3 179399668 BLCA T C IntronicSNV . c.806-5071T>C 3 179432657 CLL