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 4 68492095 68492095 + Missense_Mutation SNP G G A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr4:68492095G>A c.2501C>T c.(2500-2502)tCt>tTt p.S834F ACC 4 68510476 68510476 + Silent SNP G G T TCGA-OR-A5L5-01A-11D-A29I-10 TCGA-OR-A5L5-10A-01D-A29L-10 g.chr4:68510476G>T c.1416C>A c.(1414-1416)ggC>ggA p.G472G ACC 4 68530972 68530972 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr4:68530972C>T c.832G>A c.(832-834)Gaa>Aaa p.E278K BLCA 4 68490876 68490876 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr4:68490876C>G c.2548G>C c.(2548-2550)Gaa>Caa p.E850Q BLCA 4 68492087 68492087 + Missense_Mutation SNP C C T TCGA-4Z-AA83-01A-11D-A391-08 TCGA-4Z-AA83-10A-01D-A394-08 g.chr4:68492087C>T c.2509G>A c.(2509-2511)Gcc>Acc p.A837T BLCA 4 68504713 68504713 + Missense_Mutation SNP C C T TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr4:68504713C>T c.1684G>A c.(1684-1686)Gat>Aat p.D562N BLCA 4 68504829 68504829 + Missense_Mutation SNP T T C TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr4:68504829T>C c.1568A>G c.(1567-1569)tAc>tGc p.Y523C BLCA 4 68506874 68506874 + Missense_Mutation SNP T T C TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr4:68506874T>C c.1549A>G c.(1549-1551)Ata>Gta p.I517V BLCA 4 68511724 68511724 + Missense_Mutation SNP A A T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr4:68511724A>T c.1327T>A c.(1327-1329)Tat>Aat p.Y443N BLCA 4 68514802 68514802 + Missense_Mutation SNP G G T TCGA-XF-A9T4-01A-11D-A391-08 TCGA-XF-A9T4-10A-01D-A394-08 g.chr4:68514802G>T c.1232C>A c.(1231-1233)tCt>tAt p.S411Y BLCA 4 68514897 68514897 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 g.chr4:68514897G>A c.1137C>T c.(1135-1137)ctC>ctT p.L379L BLCA 4 68530981 68530981 + Missense_Mutation SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr4:68530981C>T c.823G>A c.(823-825)Gac>Aac p.D275N BLCA 4 68536256 68536256 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr4:68536256C>T c.601G>A c.(601-603)Gat>Aat p.D201N BLCA 4 68539451 68539451 + Silent SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr4:68539451G>A c.510C>T c.(508-510)atC>atT p.I170I BLCA 4 68539451 68539451 + Silent SNP G G A TCGA-XF-AAMF-01A-21D-A42E-08 TCGA-XF-AAMF-10A-01D-A42H-08 g.chr4:68539451G>A c.510C>T c.(508-510)atC>atT p.I170I BRCA 4 68492133 68492133 + Silent SNP C C T TCGA-OL-A5DA-01A-11D-A27P-09 TCGA-OL-A5DA-10A-01D-A27P-09 g.chr4:68492133C>T c.2463G>A c.(2461-2463)gaG>gaA p.E821E BRCA 4 68494810 68494810 + Missense_Mutation SNP C C G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 g.chr4:68494810C>G c.2379G>C c.(2377-2379)caG>caC p.Q793H BRCA 4 68500227 68500227 + Missense_Mutation SNP G G T TCGA-AC-A3YI-01A-21D-A23C-09 TCGA-AC-A3YI-10A-01D-A23C-09 g.chr4:68500227G>T c.1852C>A c.(1852-1854)Cca>Aca p.P618T BRCA 4 68511732 68511732 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr4:68511732C>T c.1319G>A c.(1318-1320)gGa>gAa p.G440E BRCA 4 68528872 68528872 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr4:68528872C>T c.1022G>A c.(1021-1023)cGc>cAc p.R341H BRCA 4 68529634 68529634 + Frame_Shift_Del DEL T T - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 g.chr4:68529634delT c.929delA c.(928-930)aagfs p.K310fs BRCA 4 68536192 68536192 + Missense_Mutation SNP G G A TCGA-AN-A0FF-01A-11W-A050-09 TCGA-AN-A0FF-10A-01W-A055-09 g.chr4:68536192G>A c.665C>T c.(664-666)aCg>aTg p.T222M BRCA 4 68539460 68539460 + Missense_Mutation SNP C C G TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr4:68539460C>G c.501G>C c.(499-501)caG>caC p.Q167H CESC 4 68511735 68511735 + Splice_Site SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr4:68511735C>G c.e16-1 COAD 4 68488929 68488929 + Nonsense_Mutation SNP G G T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:68488929G>T c.2852C>A c.(2851-2853)tCa>tAa p.S951* COAD 4 68490770 68490770 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:68490770C>T c.2654G>A c.(2653-2655)cGc>cAc p.R885H COAD 4 68490812 68490812 + Missense_Mutation SNP T T G TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr4:68490812T>G c.2612A>C c.(2611-2613)aAa>aCa p.K871T COAD 4 68490844 68490844 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:68490844A>G c.2580T>C c.(2578-2580)gaT>gaC p.D860D COAD 4 68496215 68496215 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:68496215G>A c.2297C>T c.(2296-2298)gCt>gTt p.A766V COAD 4 68501201 68501201 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:68501201T>C c.1812A>G c.(1810-1812)gtA>gtG p.V604V COAD 4 68501274 68501274 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:68501274C>T c.1739G>A c.(1738-1740)cGt>cAt p.R580H COAD 4 68512497 68512497 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:68512497C>A c.1261G>T c.(1261-1263)Gca>Tca p.A421S COAD 4 68514929 68514929 + Splice_Site SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr4:68514929G>A c.1105C>T c.(1105-1107)Cct>Tct p.P369S COAD 4 68534357 68534357 + Silent SNP A A G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:68534357A>G c.705T>C c.(703-705)caT>caC p.H235H COAD 4 68543393 68543393 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:68543393T>C c.401A>G c.(400-402)cAt>cGt p.H134R COAD 4 68543398 68543398 + Nonsense_Mutation SNP G G C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:68543398G>C c.396C>G c.(394-396)taC>taG p.Y132* COAD 4 68544158 68544158 + Splice_Site SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:68544158T>C c.352A>G c.(352-354)Agg>Ggg p.R118G COAD 4 68544195 68544195 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:68544195G>A c.315C>T c.(313-315)ttC>ttT p.F105F COADREAD 4 68488929 68488929 + Nonsense_Mutation SNP G G T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:68488929G>T c.2852C>A c.(2851-2853)tCa>tAa p.S951* COADREAD 4 68490770 68490770 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:68490770C>T c.2654G>A c.(2653-2655)cGc>cAc p.R885H COADREAD 4 68490812 68490812 + Missense_Mutation SNP T T G TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr4:68490812T>G c.2612A>C c.(2611-2613)aAa>aCa p.K871T COADREAD 4 68490844 68490844 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:68490844A>G c.2580T>C c.(2578-2580)gaT>gaC p.D860D COADREAD 4 68496215 68496215 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:68496215G>A c.2297C>T c.(2296-2298)gCt>gTt p.A766V COADREAD 4 68501201 68501201 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:68501201T>C c.1812A>G c.(1810-1812)gtA>gtG p.V604V COADREAD 4 68501274 68501274 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:68501274C>T c.1739G>A c.(1738-1740)cGt>cAt p.R580H COADREAD 4 68512497 68512497 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:68512497C>A c.1261G>T c.(1261-1263)Gca>Tca p.A421S COADREAD 4 68514929 68514929 + Splice_Site SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr4:68514929G>A c.1105C>T c.(1105-1107)Cct>Tct p.P369S COADREAD 4 68534357 68534357 + Silent SNP A A G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:68534357A>G c.705T>C c.(703-705)caT>caC p.H235H COADREAD 4 68543393 68543393 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:68543393T>C c.401A>G c.(400-402)cAt>cGt p.H134R COADREAD 4 68543398 68543398 + Nonsense_Mutation SNP G G C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:68543398G>C c.396C>G c.(394-396)taC>taG p.Y132* COADREAD 4 68544158 68544158 + Splice_Site SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:68544158T>C c.352A>G c.(352-354)Agg>Ggg p.R118G COADREAD 4 68544195 68544195 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:68544195G>A c.315C>T c.(313-315)ttC>ttT p.F105F DLBC 4 68514904 68514904 + Missense_Mutation SNP T T C TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr4:68514904T>C c.1130A>G c.(1129-1131)cAt>cGt p.H377R DLBC 4 68530944 68530944 + Missense_Mutation SNP A A G TCGA-GS-A9TX-01A-11D-A382-10 TCGA-GS-A9TX-10A-01D-A385-10 g.chr4:68530944A>G c.860T>C c.(859-861)aTa>aCa p.I287T ESCA 4 68499110 68499110 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr4:68499110A>G c.2095T>C c.(2095-2097)Tgt>Cgt p.C699R ESCA 4 68530907 68530907 + Splice_Site DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr4:68530907delA c.897delT c.(895-897)ttt>tt p.F299fs ESCA 4 68544176 68544176 + Missense_Mutation SNP C C A TCGA-LN-A7HV-01A-21D-A351-09 TCGA-LN-A7HV-10A-01D-A351-09 g.chr4:68544176C>A c.334G>T c.(334-336)Gtt>Ttt p.V112F ESCA 4 68566794 68566794 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr4:68566794G>A c.44C>T c.(43-45)gCg>gTg p.A15V GBM 4 68543331 68543331 + Missense_Mutation SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr4:68543331G>T c.463C>A c.(463-465)Cag>Aag p.Q155K GBMLGG 4 68543331 68543331 + Missense_Mutation SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr4:68543331G>T c.463C>A c.(463-465)Cag>Aag p.Q155K GBMLGG 4 68543398 68543398 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:68543398G>A c.396C>T c.(394-396)taC>taT p.Y132Y HNSC 4 68490770 68490770 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr4:68490770C>T c.2654G>A c.(2653-2655)cGc>cAc p.R885H HNSC 4 68490887 68490887 + Missense_Mutation SNP A A G TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr4:68490887A>G c.2537T>C c.(2536-2538)gTg>gCg p.V846A HNSC 4 68497581 68497581 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr4:68497581C>T c.2188G>A c.(2188-2190)Gat>Aat p.D730N HNSC 4 68499067 68499067 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr4:68499067T>C c.2138A>G c.(2137-2139)cAt>cGt p.H713R HNSC 4 68500167 68500167 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr4:68500167T>C c.1912A>G c.(1912-1914)Ata>Gta p.I638V HNSC 4 68504713 68504713 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr4:68504713C>G c.1684G>C c.(1684-1686)Gat>Cat p.D562H HNSC 4 68506923 68506923 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr4:68506923C>G c.1500G>C c.(1498-1500)ttG>ttC p.L500F HNSC 4 68514899 68514899 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr4:68514899G>A c.1135C>T c.(1135-1137)Ctc>Ttc p.L379F HNSC 4 68527946 68527946 + Missense_Mutation SNP C C G TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr4:68527946C>G c.1065G>C c.(1063-1065)ttG>ttC p.L355F HNSC 4 68543386 68543386 + Silent SNP T T A TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr4:68543386T>A c.408A>T c.(406-408)acA>acT p.T136T KIPAN 4 68514833 68514833 + Missense_Mutation SNP C C T TCGA-BP-5175-01A-01D-1429-08 TCGA-BP-5175-11A-01D-1429-08 g.chr4:68514833C>T c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K KIPAN 4 68534339 68534339 + Silent SNP T T C TCGA-B1-A47N-01A-11D-A25F-10 TCGA-B1-A47N-10A-01D-A25F-10 g.chr4:68534339T>C c.723A>G c.(721-723)acA>acG p.T241T KIPAN 4 68536260 68536261 + Frame_Shift_Ins INS - - T TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr4:68536260_68536261insT c.596_597insA c.(595-597)ttcfs p.F199fs KIPAN 4 68536261 68536262 + Frame_Shift_Ins INS - - TT TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr4:68536261_68536262insTT c.595_596insAA c.(595-597)ttcfs p.F199fs KIPAN 4 68547886 68547886 + Silent SNP G G A TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr4:68547886G>A c.180C>T c.(178-180)gcC>gcT p.A60A KIRC 4 68514833 68514833 + Missense_Mutation SNP C C T TCGA-BP-5175-01A-01D-1429-08 TCGA-BP-5175-11A-01D-1429-08 g.chr4:68514833C>T c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K KIRC 4 68547886 68547886 + Silent SNP G G A TCGA-BP-4801-01A-02D-1421-08 TCGA-BP-4801-11A-01D-1421-08 g.chr4:68547886G>A c.180C>T c.(178-180)gcC>gcT p.A60A KIRP 4 68534339 68534339 + Silent SNP T T C TCGA-B1-A47N-01A-11D-A25F-10 TCGA-B1-A47N-10A-01D-A25F-10 g.chr4:68534339T>C c.723A>G c.(721-723)acA>acG p.T241T KIRP 4 68536260 68536261 + Frame_Shift_Ins INS - - T TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr4:68536260_68536261insT c.596_597insA c.(595-597)ttcfs p.F199fs KIRP 4 68536261 68536262 + Frame_Shift_Ins INS - - TT TCGA-A4-A4ZT-01A-11D-A26P-10 TCGA-A4-A4ZT-10A-01D-A26P-10 g.chr4:68536261_68536262insTT c.595_596insAA c.(595-597)ttcfs p.F199fs LGG 4 68543398 68543398 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:68543398G>A c.396C>T c.(394-396)taC>taT p.Y132Y LIHC 4 68506897 68506897 + Missense_Mutation SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr4:68506897T>C c.1526A>G c.(1525-1527)cAg>cGg p.Q509R LIHC 4 68528881 68528881 + Missense_Mutation SNP T T G TCGA-DD-AADP-01A-11D-A38X-10 TCGA-DD-AADP-10A-01D-A38X-10 g.chr4:68528881T>G c.1013A>C c.(1012-1014)aAa>aCa p.K338T LIHC 4 68534270 68534270 + Splice_Site SNP C C A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr4:68534270C>A c.792G>T c.(790-792)acG>acT p.T264T LUAD 4 68484822 68484822 + Frame_Shift_Del DEL C C - TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr4:68484822delC c.3052delG c.(3052-3054)gaafs p.E1018fs LUAD 4 68484845 68484845 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr4:68484845T>C c.3029A>G c.(3028-3030)cAt>cGt p.H1010R LUAD 4 68488607 68488607 + Missense_Mutation SNP C C G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr4:68488607C>G c.2965G>C c.(2965-2967)Gga>Cga p.G989R LUAD 4 68490785 68490785 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr4:68490785C>A c.2639G>T c.(2638-2640)cGt>cTt p.R880L LUAD 4 68490853 68490853 + Silent SNP T T A TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chr4:68490853T>A c.2571A>T c.(2569-2571)ggA>ggT p.G857G LUAD 4 68497610 68497610 + Missense_Mutation SNP T T C TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr4:68497610T>C c.2159A>G c.(2158-2160)cAc>cGc p.H720R LUAD 4 68499189 68499189 + Missense_Mutation SNP C C G TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr4:68499189C>G c.2016G>C c.(2014-2016)aaG>aaC p.K672N LUAD 4 68499973 68499973 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr4:68499973T>G c.2000A>C c.(1999-2001)gAa>gCa p.E667A LUAD 4 68500215 68500215 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr4:68500215T>C c.1864A>G c.(1864-1866)Ata>Gta p.I622V LUAD 4 68501182 68501182 + Frame_Shift_Del DEL A A - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 g.chr4:68501182delA c.1831delT c.(1831-1833)tacfs p.Y611fs LUAD 4 68501192 68501192 + Missense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr4:68501192C>G c.1821G>C c.(1819-1821)ttG>ttC p.L607F LUAD 4 68504691 68504691 + Missense_Mutation SNP T T C TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr4:68504691T>C c.1706A>G c.(1705-1707)gAt>gGt p.D569G LUAD 4 68504713 68504713 + Missense_Mutation SNP C C A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr4:68504713C>A c.1684G>T c.(1684-1686)Gat>Tat p.D562Y LUAD 4 68504786 68504786 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr4:68504786C>A c.1611G>T c.(1609-1611)aaG>aaT p.K537N LUAD 4 68506893 68506893 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr4:68506893G>A c.1530C>T c.(1528-1530)ttC>ttT p.F510F LUAD 4 68506908 68506908 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 g.chr4:68506908G>A c.1515C>T c.(1513-1515)aaC>aaT p.N505N LUAD 4 68512442 68512442 + Splice_Site SNP C C G TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr4:68512442C>G c.1316G>C c.(1315-1317)cGa>cCa p.R439P LUAD 4 68527971 68527971 + Missense_Mutation SNP C C A TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr4:68527971C>A c.1040G>T c.(1039-1041)tGc>tTc p.C347F LUAD 4 68529644 68529644 + Missense_Mutation SNP T T G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 g.chr4:68529644T>G c.919A>C c.(919-921)Aaa>Caa p.K307Q LUAD 4 68530954 68530954 + Missense_Mutation SNP G G C TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr4:68530954G>C c.850C>G c.(850-852)Cat>Gat p.H284D LUAD 4 68534382 68534382 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr4:68534382C>T c.680G>A c.(679-681)gGc>gAc p.G227D LUAD 4 68534392 68534392 + Splice_Site DEL C C - TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr4:68534392delC c.670delG c.(670-672)gca>ca p.A224fs LUAD 4 68539437 68539437 + Missense_Mutation SNP C C T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr4:68539437C>T c.524G>A c.(523-525)cGt>cAt p.R175H LUAD 4 68539439 68539439 + Silent SNP G G A TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr4:68539439G>A c.522C>T c.(520-522)tgC>tgT p.C174C LUAD 4 68543401 68543401 + Silent SNP T T A TCGA-93-A4JP-01A-11D-A24P-08 TCGA-93-A4JP-10A-01D-A24P-08 g.chr4:68543401T>A c.393A>T c.(391-393)ccA>ccT p.P131P LUAD 4 68544212 68544212 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr4:68544212C>A c.298G>T c.(298-300)Gat>Tat p.D100Y LUAD 4 68547298 68547298 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr4:68547298C>T c.241G>A c.(241-243)Gtt>Att p.V81I LUAD 4 68562390 68562390 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr4:68562390G>C c.107C>G c.(106-108)tCt>tGt p.S36C LUAD 4 68566807 68566807 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr4:68566807G>A c.31C>T c.(31-33)Cag>Tag p.Q11* LUSC 4 68527924 68527924 + Nonsense_Mutation SNP C C A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr4:68527924C>A c.1087G>T c.(1087-1089)Gaa>Taa p.E363* LUSC 4 68544165 68544165 + Missense_Mutation SNP C C G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr4:68544165C>G c.345G>C c.(343-345)aaG>aaC p.K115N OV 4 68501269 68501269 + Missense_Mutation SNP A A T TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 g.chr4:68501269A>T c.1744T>A c.(1744-1746)Tta>Ata p.L582I PAAD 4 68490771 68490771 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:68490771G>A c.2653C>T c.(2653-2655)Cgc>Tgc p.R885C PAAD 4 68501258 68501258 + Silent SNP T T C TCGA-3A-A9IB-01A-21D-A397-08 TCGA-3A-A9IB-10A-01D-A39A-08 g.chr4:68501258T>C c.1755A>G c.(1753-1755)ctA>ctG p.L585L PAAD 4 68501275 68501275 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:68501275G>A c.1738C>T c.(1738-1740)Cgt>Tgt p.R580C PRAD 4 68500187 68500187 + Missense_Mutation SNP G G A TCGA-EJ-AB27-01A-11D-A41K-08 TCGA-EJ-AB27-10A-01D-A41N-08 g.chr4:68500187G>A c.1892C>T c.(1891-1893)cCa>cTa p.P631L PRAD 4 68529609 68529610 + Frame_Shift_Ins INS - - T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 g.chr4:68529609_68529610insT c.953_954insA c.(952-954)aacfs p.N318fs PRAD 4 68543398 68543398 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:68543398G>A c.396C>T c.(394-396)taC>taT p.Y132Y SARC 4 68536256 68536256 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr4:68536256C>T c.601G>A c.(601-603)Gat>Aat p.D201N SKCM 4 68489893 68489893 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr4:68489893G>A c.2791C>T c.(2791-2793)Cca>Tca p.P931S SKCM 4 68500023 68500023 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr4:68500023G>A c.1950C>T c.(1948-1950)tcC>tcT p.S650S SKCM 4 68500030 68500030 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:68500030G>A c.1943C>T c.(1942-1944)tCc>tTc p.S648F SKCM 4 68543347 68543347 + Silent SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr4:68543347G>A c.447C>T c.(445-447)tcC>tcT p.S149S SKCM 4 68547871 68547871 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr4:68547871G>A c.195C>T c.(193-195)ttC>ttT p.F65F

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 4 68527958 68527958 single base substitution T A downstream_gene_variant BLCA-CN 4 68527958 68527958 single base substitution T A synonymous_variant S351S 1053A>T BLCA-US 4 68514897 68514897 single base substitution G A synonymous_variant L379L 1137C>T BLCA-US 4 68514897 68514897 single base substitution G A upstream_gene_variant BLCA-US 4 68530981 68530981 single base substitution C T exon_variant BLCA-US 4 68530981 68530981 single base substitution C T missense_variant D275N 823G>A BRCA-EU 4 68477961 68477961 single base substitution C T downstream_gene_variant BRCA-EU 4 68478322 68478322 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 68478994 68478994 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 68480145 68480145 single base substitution A G 3_prime_UTR_variant BRCA-EU 4 68480145 68480145 single base substitution A G downstream_gene_variant BRCA-EU 4 68481012 68481012 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 68481012 68481012 single base substitution C G downstream_gene_variant BRCA-EU 4 68482663 68482663 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 68482663 68482663 single base substitution C T downstream_gene_variant BRCA-EU 4 68483181 68483181 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 68483181 68483181 single base substitution C G downstream_gene_variant BRCA-EU 4 68483931 68483931 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 68483931 68483931 single base substitution T C downstream_gene_variant BRCA-EU 4 68485173 68485173 single base substitution C T intron_variant BRCA-EU 4 68485434 68485434 single base substitution G C intron_variant BRCA-EU 4 68486293 68486293 single base substitution T G intron_variant BRCA-EU 4 68487025 68487025 single base substitution A G intron_variant BRCA-EU 4 68487358 68487358 single base substitution T C intron_variant BRCA-EU 4 68487415 68487415 single base substitution C T intron_variant BRCA-EU 4 68487512 68487512 single base substitution G T intron_variant BRCA-EU 4 68489457 68489457 insertion of <=200bp - T intron_variant BRCA-EU 4 68489507 68489507 single base substitution G A intron_variant BRCA-EU 4 68489821 68489821 single base substitution G C intron_variant BRCA-EU 4 68490050 68490050 single base substitution C T intron_variant BRCA-EU 4 68490550 68490550 single base substitution G A intron_variant BRCA-EU 4 68491708 68491708 single base substitution G C downstream_gene_variant BRCA-EU 4 68491708 68491708 single base substitution G C intron_variant BRCA-EU 4 68491708 68491708 single base substitution G C upstream_gene_variant BRCA-EU 4 68491766 68491766 single base substitution C G downstream_gene_variant BRCA-EU 4 68491766 68491766 single base substitution C G intron_variant BRCA-EU 4 68491766 68491766 single base substitution C G upstream_gene_variant BRCA-EU 4 68493048 68493048 single base substitution G C downstream_gene_variant BRCA-EU 4 68493048 68493048 single base substitution G C intron_variant BRCA-EU 4 68493048 68493048 single base substitution G C upstream_gene_variant BRCA-EU 4 68494002 68494005 deletion of <=200bp TTCT - downstream_gene_variant BRCA-EU 4 68494002 68494005 deletion of <=200bp TTCT - intron_variant BRCA-EU 4 68494002 68494005 deletion of <=200bp TTCT - upstream_gene_variant BRCA-EU 4 68494829 68494829 single base substitution A C downstream_gene_variant BRCA-EU 4 68494829 68494829 single base substitution A C missense_variant L787R 2360T>G BRCA-EU 4 68494829 68494829 single base substitution A C upstream_gene_variant BRCA-EU 4 68494898 68494898 single base substitution C G downstream_gene_variant BRCA-EU 4 68494898 68494898 single base substitution C G intron_variant BRCA-EU 4 68494898 68494898 single base substitution C G upstream_gene_variant BRCA-EU 4 68495289 68495289 single base substitution G T downstream_gene_variant BRCA-EU 4 68495289 68495289 single base substitution G T intron_variant BRCA-EU 4 68495289 68495289 single base substitution G T upstream_gene_variant BRCA-EU 4 68495835 68495835 single base substitution G C downstream_gene_variant BRCA-EU 4 68495835 68495835 single base substitution G C intron_variant BRCA-EU 4 68495835 68495835 single base substitution G C upstream_gene_variant BRCA-EU 4 68496129 68496129 single base substitution C T downstream_gene_variant BRCA-EU 4 68496129 68496129 single base substitution C T intron_variant BRCA-EU 4 68497083 68497083 single base substitution C G intron_variant BRCA-EU 4 68498217 68498217 deletion of <=200bp A - intron_variant BRCA-EU 4 68498217 68498217 single base substitution A T intron_variant BRCA-EU 4 68498866 68498866 single base substitution A G intron_variant BRCA-EU 4 68498881 68498881 single base substitution T C intron_variant BRCA-EU 4 68499265 68499265 single base substitution G A intron_variant BRCA-EU 4 68499338 68499338 single base substitution C G intron_variant BRCA-EU 4 68499938 68499938 single base substitution A G intron_variant BRCA-EU 4 68500942 68500942 single base substitution G A intron_variant BRCA-EU 4 68501773 68501773 single base substitution T A intron_variant BRCA-EU 4 68502189 68502189 single base substitution C G intron_variant BRCA-EU 4 68502337 68502337 single base substitution C G intron_variant BRCA-EU 4 68502445 68502445 single base substitution G A intron_variant BRCA-EU 4 68502553 68502553 single base substitution G A intron_variant BRCA-EU 4 68503626 68503626 single base substitution A C intron_variant BRCA-EU 4 68504883 68504883 deletion of <=200bp A - intron_variant BRCA-EU 4 68506694 68506694 single base substitution T C intron_variant BRCA-EU 4 68506695 68506695 single base substitution C A intron_variant BRCA-EU 4 68507217 68507219 deletion of <=200bp AAC - intron_variant BRCA-EU 4 68507398 68507398 single base substitution C A intron_variant BRCA-EU 4 68507470 68507470 single base substitution C G intron_variant BRCA-EU 4 68508602 68508602 single base substitution C T intron_variant BRCA-EU 4 68508887 68508887 single base substitution T A intron_variant BRCA-EU 4 68512594 68512594 single base substitution C T intron_variant BRCA-EU 4 68512594 68512594 single base substitution C T upstream_gene_variant BRCA-EU 4 68513522 68513522 single base substitution C T intron_variant BRCA-EU 4 68513522 68513522 single base substitution C T upstream_gene_variant BRCA-EU 4 68515178 68515178 single base substitution C T intron_variant BRCA-EU 4 68515178 68515178 single base substitution C T upstream_gene_variant BRCA-EU 4 68516795 68516795 single base substitution A G intron_variant BRCA-EU 4 68516808 68516808 single base substitution T G intron_variant BRCA-EU 4 68519512 68519512 single base substitution G T intron_variant BRCA-EU 4 68520049 68520049 single base substitution C G intron_variant BRCA-EU 4 68520217 68520217 single base substitution T A intron_variant BRCA-EU 4 68520390 68520390 single base substitution A C intron_variant BRCA-EU 4 68521535 68521535 single base substitution G A intron_variant BRCA-EU 4 68521950 68521950 deletion of <=200bp A - intron_variant BRCA-EU 4 68522140 68522140 single base substitution A T intron_variant BRCA-EU 4 68523640 68523640 single base substitution C T downstream_gene_variant BRCA-EU 4 68523640 68523640 single base substitution C T intron_variant BRCA-EU 4 68526493 68526493 single base substitution G A downstream_gene_variant BRCA-EU 4 68526493 68526493 single base substitution G A intron_variant BRCA-EU 4 68526588 68526588 single base substitution C T downstream_gene_variant BRCA-EU 4 68526588 68526588 single base substitution C T intron_variant BRCA-EU 4 68527136 68527136 single base substitution T C downstream_gene_variant BRCA-EU 4 68527136 68527136 single base substitution T C intron_variant BRCA-EU 4 68528181 68528181 single base substitution A C downstream_gene_variant BRCA-EU 4 68528181 68528181 single base substitution A C intron_variant BRCA-EU 4 68529133 68529133 single base substitution T C exon_variant BRCA-EU 4 68529133 68529133 single base substitution T C intron_variant BRCA-EU 4 68530041 68530041 deletion of <=200bp A - intron_variant BRCA-EU 4 68531211 68531211 single base substitution C G intron_variant BRCA-EU 4 68531553 68531553 single base substitution C T intron_variant BRCA-EU 4 68531569 68531569 single base substitution A C intron_variant BRCA-EU 4 68532469 68532469 single base substitution C T intron_variant BRCA-EU 4 68533456 68533456 single base substitution C T intron_variant BRCA-EU 4 68533491 68533491 deletion of <=200bp T - intron_variant BRCA-EU 4 68533532 68533532 single base substitution C T intron_variant BRCA-EU 4 68533909 68533909 single base substitution C G intron_variant BRCA-EU 4 68535512 68535512 single base substitution G A intron_variant BRCA-EU 4 68535525 68535525 single base substitution C G intron_variant BRCA-EU 4 68536475 68536475 single base substitution A G intron_variant BRCA-EU 4 68537203 68537203 deletion of <=200bp T - intron_variant BRCA-EU 4 68538951 68538951 single base substitution T C intron_variant BRCA-EU 4 68540257 68540257 single base substitution G A downstream_gene_variant BRCA-EU 4 68540257 68540257 single base substitution G A intron_variant BRCA-EU 4 68541402 68541402 single base substitution C G downstream_gene_variant BRCA-EU 4 68541402 68541402 single base substitution C G intron_variant BRCA-EU 4 68545439 68545439 single base substitution C A intron_variant BRCA-EU 4 68545702 68545702 single base substitution C G intron_variant BRCA-EU 4 68546896 68546896 single base substitution T C intron_variant BRCA-EU 4 68547233 68547233 deletion of <=200bp A - intron_variant BRCA-EU 4 68549491 68549491 single base substitution T A intron_variant BRCA-EU 4 68549529 68549529 single base substitution G A intron_variant BRCA-EU 4 68550202 68550202 deletion of <=200bp T - intron_variant BRCA-EU 4 68551221 68551221 deletion of <=200bp T - intron_variant BRCA-EU 4 68552430 68552430 single base substitution G A intron_variant BRCA-EU 4 68554636 68554636 single base substitution T C intron_variant BRCA-EU 4 68554985 68554985 single base substitution C T intron_variant BRCA-EU 4 68555307 68555307 single base substitution T C intron_variant BRCA-EU 4 68555582 68555582 single base substitution T C intron_variant BRCA-EU 4 68556206 68556206 single base substitution C T intron_variant BRCA-EU 4 68556215 68556215 single base substitution C G intron_variant BRCA-EU 4 68556310 68556310 insertion of <=200bp - A intron_variant BRCA-EU 4 68556900 68556900 insertion of <=200bp - A intron_variant BRCA-EU 4 68561921 68561921 single base substitution C G intron_variant BRCA-EU 4 68562430 68562430 deletion of <=200bp A - splice_region_variant BRCA-EU 4 68563003 68563003 single base substitution G A intron_variant BRCA-EU 4 68564012 68564012 single base substitution G C intron_variant BRCA-EU 4 68564909 68564909 single base substitution G A intron_variant BRCA-EU 4 68566456 68566456 single base substitution A C intron_variant BRCA-EU 4 68568082 68568082 single base substitution T A upstream_gene_variant BRCA-EU 4 68568279 68568279 single base substitution G T upstream_gene_variant BRCA-EU 4 68568445 68568445 single base substitution C G upstream_gene_variant BRCA-EU 4 68569424 68569424 single base substitution G A upstream_gene_variant BRCA-EU 4 68569844 68569844 single base substitution A T upstream_gene_variant BRCA-EU 4 68570008 68570008 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 68570181 68570181 single base substitution G A upstream_gene_variant BRCA-EU 4 68571659 68571659 single base substitution C G upstream_gene_variant BRCA-FR 4 68486293 68486293 single base substitution T G intron_variant BRCA-FR 4 68487512 68487512 single base substitution G T intron_variant BRCA-FR 4 68492500 68492500 single base substitution C T downstream_gene_variant BRCA-FR 4 68492500 68492500 single base substitution C T intron_variant BRCA-FR 4 68492500 68492500 single base substitution C T upstream_gene_variant BRCA-FR 4 68492520 68492520 single base substitution T A downstream_gene_variant BRCA-FR 4 68492520 68492520 single base substitution T A intron_variant BRCA-FR 4 68492520 68492520 single base substitution T A upstream_gene_variant BRCA-FR 4 68493048 68493048 single base substitution G C downstream_gene_variant BRCA-FR 4 68493048 68493048 single base substitution G C intron_variant BRCA-FR 4 68493048 68493048 single base substitution G C upstream_gene_variant BRCA-FR 4 68498782 68498782 single base substitution G A intron_variant BRCA-FR 4 68498866 68498866 single base substitution A G intron_variant BRCA-FR 4 68498881 68498881 single base substitution T C intron_variant BRCA-FR 4 68499265 68499265 single base substitution G A intron_variant BRCA-FR 4 68499938 68499938 single base substitution A G intron_variant BRCA-FR 4 68500942 68500942 single base substitution G A intron_variant BRCA-FR 4 68502445 68502445 single base substitution G A intron_variant BRCA-FR 4 68515178 68515178 single base substitution C T intron_variant BRCA-FR 4 68515178 68515178 single base substitution C T upstream_gene_variant BRCA-FR 4 68531211 68531211 single base substitution C G intron_variant BRCA-FR 4 68535512 68535512 single base substitution G A intron_variant BRCA-FR 4 68545702 68545702 single base substitution C G intron_variant BRCA-FR 4 68546896 68546896 single base substitution T C intron_variant BRCA-FR 4 68549491 68549491 single base substitution T A intron_variant BRCA-FR 4 68553206 68553206 single base substitution G A intron_variant BRCA-FR 4 68568279 68568279 single base substitution G T upstream_gene_variant BRCA-FR 4 68570181 68570181 single base substitution G A upstream_gene_variant BRCA-KR 4 68494848 68494848 single base substitution C G downstream_gene_variant BRCA-KR 4 68494848 68494848 single base substitution C G missense_variant D781H 2341G>C BRCA-KR 4 68494848 68494848 single base substitution C G upstream_gene_variant BRCA-UK 4 68498988 68498988 single base substitution C T intron_variant BRCA-UK 4 68508602 68508602 single base substitution C T intron_variant BRCA-UK 4 68562740 68562768 deletion of <=200bp TGAGATGGGAGTCTCACTCTGTTACCGAG - intron_variant BRCA-US 4 68492133 68492133 single base substitution C T downstream_gene_variant BRCA-US 4 68492133 68492133 single base substitution C T synonymous_variant E821E 2463G>A BRCA-US 4 68492133 68492133 single base substitution C T upstream_gene_variant BRCA-US 4 68494810 68494810 single base substitution C G downstream_gene_variant BRCA-US 4 68494810 68494810 single base substitution C G missense_variant Q793H 2379G>C BRCA-US 4 68494810 68494810 single base substitution C G upstream_gene_variant BRCA-US 4 68500227 68500227 single base substitution G T missense_variant P151T 451C>A BRCA-US 4 68500227 68500227 single base substitution G T missense_variant P618T 1852C>A BRCA-US 4 68511732 68511732 single base substitution C T missense_variant G440E 1319G>A BRCA-US 4 68511732 68511732 single base substitution C T upstream_gene_variant BRCA-US 4 68528872 68528872 single base substitution C T exon_variant BRCA-US 4 68528872 68528872 single base substitution C T missense_variant R341H 1022G>A BRCA-US 4 68529634 68529634 deletion of <=200bp T - exon_variant BRCA-US 4 68529634 68529634 deletion of <=200bp T - frameshift_variant K310 BRCA-US 4 68536192 68536192 single base substitution G A exon_variant BRCA-US 4 68536192 68536192 single base substitution G A missense_variant T222M 665C>T BRCA-US 4 68539460 68539460 single base substitution C G downstream_gene_variant BRCA-US 4 68539460 68539460 single base substitution C G exon_variant BRCA-US 4 68539460 68539460 single base substitution C G missense_variant Q167H 501G>C BTCA-JP 4 68484626 68484626 single base substitution G T 3_prime_UTR_variant BTCA-JP 4 68500057 68500057 deletion of <=200bp A - intron_variant BTCA-JP 4 68501145 68501145 single base substitution C G intron_variant BTCA-JP 4 68514983 68514983 single base substitution T G intron_variant BTCA-JP 4 68514983 68514983 single base substitution T G upstream_gene_variant BTCA-JP 4 68529557 68529557 single base substitution T A exon_variant BTCA-JP 4 68529557 68529557 single base substitution T A intron_variant CESC-US 4 68511735 68511735 single base substitution C G splice_acceptor_variant CESC-US 4 68511735 68511735 single base substitution C G upstream_gene_variant CLLE-ES 4 68475352 68475352 single base substitution C T downstream_gene_variant CLLE-ES 4 68480963 68480963 single base substitution A C 3_prime_UTR_variant CLLE-ES 4 68480963 68480963 single base substitution A C downstream_gene_variant CLLE-ES 4 68481035 68481035 single base substitution C T 3_prime_UTR_variant CLLE-ES 4 68481035 68481035 single base substitution C T downstream_gene_variant CLLE-ES 4 68486689 68486689 single base substitution C T intron_variant CLLE-ES 4 68496383 68496383 single base substitution T C intron_variant CLLE-ES 4 68499263 68499263 single base substitution T C intron_variant CLLE-ES 4 68527395 68527395 single base substitution C A 3_prime_UTR_variant CLLE-ES 4 68527395 68527395 single base substitution C A downstream_gene_variant CLLE-ES 4 68527395 68527395 single base substitution C A intron_variant COAD-US 4 68488929 68488929 single base substitution G T exon_variant COAD-US 4 68488929 68488929 single base substitution G T stop_gained S951* 2852C>A COAD-US 4 68501201 68501201 single base substitution T C synonymous_variant V137V 411A>G COAD-US 4 68501201 68501201 single base substitution T C synonymous_variant V604V 1812A>G COAD-US 4 68501274 68501274 single base substitution C T missense_variant R113H 338G>A COAD-US 4 68501274 68501274 single base substitution C T missense_variant R580H 1739G>A COAD-US 4 68512497 68512497 single base substitution C A missense_variant A421S 1261G>T COAD-US 4 68512497 68512497 single base substitution C A upstream_gene_variant COAD-US 4 68512507 68512507 single base substitution T A missense_variant L417F 1251A>T COAD-US 4 68512507 68512507 single base substitution T A upstream_gene_variant COAD-US 4 68534357 68534357 single base substitution A G exon_variant COAD-US 4 68534357 68534357 single base substitution A G synonymous_variant H235H 705T>C COAD-US 4 68544158 68544158 single base substitution T C exon_variant COAD-US 4 68544158 68544158 single base substitution T C missense_variant R118G 352A>G COAD-US 4 68544158 68544158 single base substitution T C splice_region_variant COCA-CN 4 68490870 68490870 single base substitution C A exon_variant COCA-CN 4 68490870 68490870 single base substitution C A missense_variant D852Y 2554G>T COCA-CN 4 68501073 68501073 single base substitution A C intron_variant COCA-CN 4 68528873 68528873 single base substitution G A exon_variant COCA-CN 4 68528873 68528873 single base substitution G A missense_variant R341C 1021C>T COCA-CN 4 68529742 68529742 single base substitution C T intron_variant COCA-CN 4 68562240 68562240 single base substitution C T intron_variant COCA-CN 4 68566883 68566883 single base substitution C G 5_prime_UTR_variant COCA-CN 4 68566883 68566883 single base substitution C G upstream_gene_variant EOPC-DE 4 68529631 68529631 single base substitution C A exon_variant EOPC-DE 4 68529631 68529631 single base substitution C A missense_variant C311F 932G>T EOPC-DE 4 68560604 68560604 single base substitution G T intron_variant ESAD-UK 4 68475009 68475009 single base substitution A C downstream_gene_variant ESAD-UK 4 68476008 68476008 single base substitution G C downstream_gene_variant ESAD-UK 4 68479035 68479035 single base substitution A T 3_prime_UTR_variant ESAD-UK 4 68479836 68479836 single base substitution C A 3_prime_UTR_variant ESAD-UK 4 68479836 68479836 single base substitution C A downstream_gene_variant ESAD-UK 4 68481493 68481493 single base substitution A C 3_prime_UTR_variant ESAD-UK 4 68481493 68481493 single base substitution A C downstream_gene_variant ESAD-UK 4 68481962 68481962 single base substitution A T 3_prime_UTR_variant ESAD-UK 4 68481962 68481962 single base substitution A T downstream_gene_variant ESAD-UK 4 68482827 68482827 single base substitution C G 3_prime_UTR_variant ESAD-UK 4 68482827 68482827 single base substitution C G downstream_gene_variant ESAD-UK 4 68485045 68485045 single base substitution C G intron_variant ESAD-UK 4 68489309 68489309 single base substitution T G intron_variant ESAD-UK 4 68489328 68489328 single base substitution T G intron_variant ESAD-UK 4 68490592 68490592 single base substitution G A intron_variant ESAD-UK 4 68495237 68495237 single base substitution G C downstream_gene_variant ESAD-UK 4 68495237 68495237 single base substitution G C intron_variant ESAD-UK 4 68495237 68495237 single base substitution G C upstream_gene_variant ESAD-UK 4 68496212 68496212 single base substitution G A missense_variant T257I 770C>T ESAD-UK 4 68496212 68496212 single base substitution G A missense_variant T767I 2300C>T ESAD-UK 4 68497224 68497224 single base substitution T G intron_variant ESAD-UK 4 68498956 68498956 single base substitution G T intron_variant ESAD-UK 4 68502052 68502052 insertion of <=200bp - AA intron_variant ESAD-UK 4 68502217 68502217 single base substitution C T intron_variant ESAD-UK 4 68506526 68506526 deletion of <=200bp A - intron_variant ESAD-UK 4 68506858 68506858 single base substitution T C intron_variant ESAD-UK 4 68507021 68507021 deletion of <=200bp A - intron_variant ESAD-UK 4 68507870 68507870 single base substitution C G intron_variant ESAD-UK 4 68509417 68509417 deletion of <=200bp A - intron_variant ESAD-UK 4 68510270 68510270 single base substitution G C intron_variant ESAD-UK 4 68511014 68511014 single base substitution A C intron_variant ESAD-UK 4 68511014 68511014 single base substitution A C upstream_gene_variant ESAD-UK 4 68511036 68511036 single base substitution A G intron_variant ESAD-UK 4 68511036 68511036 single base substitution A G upstream_gene_variant ESAD-UK 4 68511663 68511663 single base substitution A G missense_variant I463T 1388T>C ESAD-UK 4 68511663 68511663 single base substitution A G upstream_gene_variant ESAD-UK 4 68512601 68512601 deletion of <=200bp A - intron_variant ESAD-UK 4 68512601 68512601 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 68518557 68518557 single base substitution C T intron_variant ESAD-UK 4 68519630 68519630 single base substitution C T intron_variant ESAD-UK 4 68519692 68519692 single base substitution A T intron_variant ESAD-UK 4 68519754 68519754 single base substitution G T intron_variant ESAD-UK 4 68521602 68521602 single base substitution A T intron_variant ESAD-UK 4 68522150 68522150 single base substitution C G intron_variant ESAD-UK 4 68522527 68522527 single base substitution A C downstream_gene_variant ESAD-UK 4 68522527 68522527 single base substitution A C intron_variant ESAD-UK 4 68522857 68522857 single base substitution T G downstream_gene_variant ESAD-UK 4 68522857 68522857 single base substitution T G intron_variant ESAD-UK 4 68524491 68524491 single base substitution A G downstream_gene_variant ESAD-UK 4 68524491 68524491 single base substitution A G intron_variant ESAD-UK 4 68524766 68524766 single base substitution A C downstream_gene_variant ESAD-UK 4 68524766 68524766 single base substitution A C intron_variant ESAD-UK 4 68526055 68526055 single base substitution G A downstream_gene_variant ESAD-UK 4 68526055 68526055 single base substitution G A intron_variant ESAD-UK 4 68529876 68529876 single base substitution C A intron_variant ESAD-UK 4 68530907 68530907 deletion of <=200bp A - frameshift_variant F299 ESAD-UK 4 68530907 68530907 deletion of <=200bp A - splice_region_variant ESAD-UK 4 68531527 68531527 single base substitution A C intron_variant ESAD-UK 4 68532229 68532229 single base substitution C A intron_variant ESAD-UK 4 68533484 68533484 single base substitution C G intron_variant ESAD-UK 4 68533619 68533619 single base substitution C T intron_variant ESAD-UK 4 68537459 68537459 single base substitution C A intron_variant ESAD-UK 4 68538763 68538763 single base substitution T A intron_variant ESAD-UK 4 68540624 68540624 single base substitution C T downstream_gene_variant ESAD-UK 4 68540624 68540624 single base substitution C T intron_variant ESAD-UK 4 68542929 68542929 single base substitution C G downstream_gene_variant ESAD-UK 4 68542929 68542929 single base substitution C G intron_variant ESAD-UK 4 68543977 68543977 single base substitution G A downstream_gene_variant ESAD-UK 4 68543977 68543977 single base substitution G A intron_variant ESAD-UK 4 68544133 68544133 single base substitution G T downstream_gene_variant ESAD-UK 4 68544133 68544133 single base substitution G T intron_variant ESAD-UK 4 68545821 68545821 deletion of <=200bp A - intron_variant ESAD-UK 4 68547108 68547108 single base substitution G A intron_variant ESAD-UK 4 68547111 68547111 single base substitution G A intron_variant ESAD-UK 4 68549336 68549336 single base substitution T A intron_variant ESAD-UK 4 68556382 68556382 single base substitution C G intron_variant ESAD-UK 4 68559188 68559188 single base substitution G A intron_variant ESAD-UK 4 68559660 68559660 single base substitution C T intron_variant ESAD-UK 4 68560107 68560107 single base substitution A C intron_variant ESAD-UK 4 68565359 68565359 single base substitution C T intron_variant ESAD-UK 4 68569044 68569044 single base substitution G T upstream_gene_variant ESAD-UK 4 68570076 68570076 single base substitution G T upstream_gene_variant ESAD-UK 4 68571314 68571314 single base substitution T G upstream_gene_variant ESCA-CN 4 68511726 68511726 single base substitution C G missense_variant R442T 1325G>C ESCA-CN 4 68511726 68511726 single base substitution C G upstream_gene_variant ESCA-CN 4 68536192 68536192 single base substitution G A exon_variant ESCA-CN 4 68536192 68536192 single base substitution G A missense_variant T222M 665C>T ESCA-CN 4 68544165 68544165 single base substitution C G exon_variant ESCA-CN 4 68544165 68544165 single base substitution C G missense_variant K115N 345G>C GBM-US 4 68543331 68543331 single base substitution G T downstream_gene_variant GBM-US 4 68543331 68543331 single base substitution G T missense_variant Q155K 463C>A GBM-US 4 68543331 68543331 single base substitution G T splice_region_variant KIRC-US 4 68514833 68514833 single base substitution C T missense_variant E401K 1201G>A KIRC-US 4 68514833 68514833 single base substitution C T upstream_gene_variant KIRC-US 4 68547886 68547886 single base substitution G A exon_variant KIRC-US 4 68547886 68547886 single base substitution G A synonymous_variant A60A 180C>T KIRP-US 4 68534339 68534339 single base substitution T C exon_variant KIRP-US 4 68534339 68534339 single base substitution T C synonymous_variant T241T 723A>G KIRP-US 4 68536260 68536260 insertion of <=200bp - T exon_variant KIRP-US 4 68536260 68536260 insertion of <=200bp - T frameshift_variant F199F? KIRP-US 4 68536261 68536261 insertion of <=200bp - TT exon_variant KIRP-US 4 68536261 68536261 insertion of <=200bp - TT frameshift_variant F199L? LICA-CN 4 68510459 68510459 single base substitution T A missense_variant N11I 32A>T LICA-CN 4 68510459 68510459 single base substitution T A missense_variant N478I 1433A>T LICA-FR 4 68488931 68488931 single base substitution T C exon_variant LICA-FR 4 68488931 68488931 single base substitution T C missense_variant I950M 2850A>G LICA-FR 4 68501107 68501107 single base substitution T C intron_variant LICA-FR 4 68505902 68505902 single base substitution T C intron_variant LICA-FR 4 68513570 68513570 single base substitution C A intron_variant LICA-FR 4 68513570 68513570 single base substitution C A upstream_gene_variant LICA-FR 4 68529598 68529598 single base substitution T C exon_variant LICA-FR 4 68529598 68529598 single base substitution T C splice_region_variant LICA-FR 4 68534226 68534226 single base substitution T A intron_variant LICA-FR 4 68534228 68534228 single base substitution C A intron_variant LICA-FR 4 68546077 68546077 single base substitution C A intron_variant LICA-FR 4 68548571 68548571 single base substitution G C intron_variant LICA-FR 4 68562417 68562443 deletion of <=200bp TTATTTGTGCTGGAAAAAAAAACATGG - splice_acceptor_variant LICA-FR 4 68567378 68567378 single base substitution T C upstream_gene_variant LIHC-US 4 68497490 68497490 single base substitution C A splice_acceptor_variant LIHC-US 4 68506897 68506897 single base substitution T C missense_variant Q42R 125A>G LIHC-US 4 68506897 68506897 single base substitution T C missense_variant Q509R 1526A>G LIHC-US 4 68534270 68534270 single base substitution C A splice_region_variant LIHC-US 4 68539451 68539451 single base substitution G C downstream_gene_variant LIHC-US 4 68539451 68539451 single base substitution G C exon_variant LIHC-US 4 68539451 68539451 single base substitution G C missense_variant I170M 510C>G LIHC-US 4 68543400 68543400 single base substitution A G downstream_gene_variant LIHC-US 4 68543400 68543400 single base substitution A G exon_variant LIHC-US 4 68543400 68543400 single base substitution A G missense_variant Y132H 394T>C LINC-JP 4 68484624 68484624 single base substitution T C 3_prime_UTR_variant LINC-JP 4 68489016 68489016 single base substitution C A intron_variant LINC-JP 4 68490018 68490018 single base substitution C A intron_variant LINC-JP 4 68503442 68503442 single base substitution C T intron_variant LINC-JP 4 68506909 68506909 single base substitution T A missense_variant N38I 113A>T LINC-JP 4 68506909 68506909 single base substitution T A missense_variant N505I 1514A>T LINC-JP 4 68510331 68510331 single base substitution A G intron_variant LINC-JP 4 68510802 68510802 single base substitution A G intron_variant LINC-JP 4 68510802 68510802 single base substitution A G upstream_gene_variant LINC-JP 4 68529602 68529602 single base substitution C T exon_variant LINC-JP 4 68529602 68529602 single base substitution C T splice_donor_variant LINC-JP 4 68529603 68529603 single base substitution C T exon_variant LINC-JP 4 68529603 68529603 single base substitution C T splice_region_variant LINC-JP 4 68534734 68534734 single base substitution C A intron_variant LINC-JP 4 68544223 68544223 single base substitution C T exon_variant LINC-JP 4 68544223 68544223 single base substitution C T missense_variant C96Y 287G>A LINC-JP 4 68547838 68547838 single base substitution A G splice_region_variant LINC-JP 4 68547964 68547964 single base substitution T C intron_variant LINC-JP 4 68554909 68554909 single base substitution A C intron_variant LINC-JP 4 68554945 68554945 single base substitution G A intron_variant LINC-JP 4 68556977 68556977 single base substitution T G intron_variant LINC-JP 4 68559196 68559196 single base substitution G A intron_variant LINC-JP 4 68561602 68561602 single base substitution C G intron_variant LINC-JP 4 68562534 68562534 single base substitution T C intron_variant LINC-JP 4 68562558 68562558 single base substitution T C intron_variant LINC-JP 4 68565257 68565257 single base substitution C T intron_variant LINC-JP 4 68566963 68566963 single base substitution C T upstream_gene_variant LIRI-JP 4 68473608 68473608 single base substitution T C downstream_gene_variant LIRI-JP 4 68474902 68474902 single base substitution C T downstream_gene_variant LIRI-JP 4 68477118 68477118 single base substitution A G downstream_gene_variant LIRI-JP 4 68477514 68477514 single base substitution T C downstream_gene_variant LIRI-JP 4 68479223 68479223 single base substitution A C 3_prime_UTR_variant LIRI-JP 4 68482242 68482242 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 68482242 68482242 single base substitution A G downstream_gene_variant LIRI-JP 4 68482371 68482371 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 68482371 68482371 single base substitution T G downstream_gene_variant LIRI-JP 4 68487045 68487045 single base substitution C A intron_variant LIRI-JP 4 68487187 68487187 single base substitution C G intron_variant LIRI-JP 4 68489326 68489326 single base substitution T C intron_variant LIRI-JP 4 68489646 68489646 single base substitution G A intron_variant LIRI-JP 4 68491678 68491678 single base substitution T A downstream_gene_variant LIRI-JP 4 68491678 68491678 single base substitution T A intron_variant LIRI-JP 4 68491678 68491678 single base substitution T A upstream_gene_variant LIRI-JP 4 68492928 68492928 single base substitution T A downstream_gene_variant LIRI-JP 4 68492928 68492928 single base substitution T A intron_variant LIRI-JP 4 68492928 68492928 single base substitution T A upstream_gene_variant LIRI-JP 4 68492975 68492975 single base substitution A C downstream_gene_variant LIRI-JP 4 68492975 68492975 single base substitution A C intron_variant LIRI-JP 4 68492975 68492975 single base substitution A C upstream_gene_variant LIRI-JP 4 68493712 68493712 single base substitution C A downstream_gene_variant LIRI-JP 4 68493712 68493712 single base substitution C A intron_variant LIRI-JP 4 68493712 68493712 single base substitution C A upstream_gene_variant LIRI-JP 4 68495811 68495811 single base substitution G C downstream_gene_variant LIRI-JP 4 68495811 68495811 single base substitution G C intron_variant LIRI-JP 4 68495811 68495811 single base substitution G C upstream_gene_variant LIRI-JP 4 68501703 68501703 single base substitution C A intron_variant LIRI-JP 4 68507281 68507281 single base substitution A G intron_variant LIRI-JP 4 68508194 68508194 single base substitution A G intron_variant LIRI-JP 4 68509710 68509710 single base substitution T C intron_variant LIRI-JP 4 68510215 68510215 single base substitution G T intron_variant LIRI-JP 4 68512206 68512206 deletion of <=200bp T - intron_variant LIRI-JP 4 68512206 68512206 deletion of <=200bp T - upstream_gene_variant LIRI-JP 4 68512667 68512667 single base substitution T C intron_variant LIRI-JP 4 68512667 68512667 single base substitution T C upstream_gene_variant LIRI-JP 4 68512676 68512676 single base substitution A T intron_variant LIRI-JP 4 68512676 68512676 single base substitution A T upstream_gene_variant LIRI-JP 4 68515710 68515710 single base substitution C T intron_variant LIRI-JP 4 68516679 68516679 single base substitution C T intron_variant LIRI-JP 4 68517008 68517008 single base substitution G T intron_variant LIRI-JP 4 68517264 68517264 single base substitution T C intron_variant LIRI-JP 4 68517623 68517623 single base substitution A C intron_variant LIRI-JP 4 68517708 68517708 single base substitution T C intron_variant LIRI-JP 4 68518680 68518680 single base substitution C A intron_variant LIRI-JP 4 68520962 68520962 single base substitution T C intron_variant LIRI-JP 4 68521495 68521495 single base substitution T C intron_variant LIRI-JP 4 68524155 68524155 single base substitution C A downstream_gene_variant LIRI-JP 4 68524155 68524155 single base substitution C A intron_variant LIRI-JP 4 68525932 68525932 single base substitution T C downstream_gene_variant LIRI-JP 4 68525932 68525932 single base substitution T C intron_variant LIRI-JP 4 68527447 68527447 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 68527447 68527447 single base substitution T C downstream_gene_variant LIRI-JP 4 68527447 68527447 single base substitution T C intron_variant LIRI-JP 4 68527581 68527581 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 68527581 68527581 single base substitution T C downstream_gene_variant LIRI-JP 4 68527581 68527581 single base substitution T C intron_variant LIRI-JP 4 68528007 68528007 single base substitution T A downstream_gene_variant LIRI-JP 4 68528007 68528007 single base substitution T A intron_variant LIRI-JP 4 68528078 68528078 single base substitution T C downstream_gene_variant LIRI-JP 4 68528078 68528078 single base substitution T C intron_variant LIRI-JP 4 68529648 68529648 single base substitution C A exon_variant LIRI-JP 4 68529648 68529648 single base substitution C A missense_variant Q305H 915G>T LIRI-JP 4 68530305 68530305 single base substitution C T intron_variant LIRI-JP 4 68531092 68531092 deletion of <=200bp T - intron_variant LIRI-JP 4 68532858 68532858 single base substitution A G intron_variant LIRI-JP 4 68533342 68533342 single base substitution T C intron_variant LIRI-JP 4 68533870 68533870 single base substitution G T intron_variant LIRI-JP 4 68534853 68534853 single base substitution T C intron_variant LIRI-JP 4 68535973 68535973 single base substitution T A intron_variant LIRI-JP 4 68540478 68540478 single base substitution C G downstream_gene_variant LIRI-JP 4 68540478 68540478 single base substitution C G intron_variant LIRI-JP 4 68545092 68545092 single base substitution A G intron_variant LIRI-JP 4 68546909 68546909 single base substitution G A intron_variant LIRI-JP 4 68549111 68549111 single base substitution A T intron_variant LIRI-JP 4 68549937 68549937 single base substitution A C intron_variant LIRI-JP 4 68551074 68551074 single base substitution T C intron_variant LIRI-JP 4 68554455 68554455 insertion of <=200bp - A intron_variant LIRI-JP 4 68555022 68555022 single base substitution T C intron_variant LIRI-JP 4 68555119 68555119 single base substitution T G intron_variant LIRI-JP 4 68555817 68555817 single base substitution A C intron_variant LIRI-JP 4 68559474 68559474 single base substitution T G intron_variant LIRI-JP 4 68563733 68563733 single base substitution G C intron_variant LIRI-JP 4 68567873 68567873 single base substitution T G upstream_gene_variant LIRI-JP 4 68568224 68568224 single base substitution A G upstream_gene_variant LIRI-JP 4 68568558 68568558 single base substitution A G upstream_gene_variant LIRI-JP 4 68569145 68569145 single base substitution C T upstream_gene_variant LIRI-JP 4 68569224 68569224 single base substitution T C upstream_gene_variant LUSC-KR 4 68473652 68473652 single base substitution T C downstream_gene_variant LUSC-KR 4 68478369 68478369 single base substitution G C downstream_gene_variant LUSC-KR 4 68483993 68483993 single base substitution C A 3_prime_UTR_variant LUSC-KR 4 68483993 68483993 single base substitution C A downstream_gene_variant LUSC-KR 4 68486101 68486101 single base substitution G C intron_variant LUSC-KR 4 68488774 68488774 single base substitution C A intron_variant LUSC-KR 4 68488906 68488906 single base substitution T C exon_variant LUSC-KR 4 68488906 68488906 single base substitution T C missense_variant T959A 2875A>G LUSC-KR 4 68497570 68497570 single base substitution C A splice_region_variant LUSC-KR 4 68500171 68500171 single base substitution A G synonymous_variant H169H 507T>C LUSC-KR 4 68500171 68500171 single base substitution A G synonymous_variant H636H 1908T>C LUSC-KR 4 68502878 68502878 single base substitution C T intron_variant LUSC-KR 4 68515194 68515194 single base substitution G C intron_variant LUSC-KR 4 68515194 68515194 single base substitution G C upstream_gene_variant LUSC-KR 4 68517785 68517785 single base substitution T C intron_variant LUSC-KR 4 68520053 68520053 single base substitution T A intron_variant LUSC-KR 4 68527353 68527353 single base substitution G A downstream_gene_variant LUSC-KR 4 68527353 68527353 single base substitution G A intron_variant LUSC-KR 4 68533822 68533822 single base substitution C T intron_variant LUSC-KR 4 68540067 68540067 single base substitution T C downstream_gene_variant LUSC-KR 4 68540067 68540067 single base substitution T C intron_variant LUSC-KR 4 68540470 68540470 single base substitution G C downstream_gene_variant LUSC-KR 4 68540470 68540470 single base substitution G C intron_variant LUSC-KR 4 68540761 68540761 single base substitution T C downstream_gene_variant LUSC-KR 4 68540761 68540761 single base substitution T C intron_variant LUSC-KR 4 68541829 68541829 single base substitution C T downstream_gene_variant LUSC-KR 4 68541829 68541829 single base substitution C T intron_variant LUSC-KR 4 68543610 68543610 single base substitution A G downstream_gene_variant LUSC-KR 4 68543610 68543610 single base substitution A G intron_variant LUSC-KR 4 68544053 68544053 single base substitution C A downstream_gene_variant LUSC-KR 4 68544053 68544053 single base substitution C A intron_variant LUSC-KR 4 68548432 68548432 single base substitution G A intron_variant LUSC-KR 4 68558741 68558741 single base substitution C T intron_variant LUSC-KR 4 68560367 68560367 single base substitution G A intron_variant LUSC-KR 4 68560549 68560549 single base substitution T C intron_variant LUSC-KR 4 68561829 68561829 single base substitution C A intron_variant LUSC-KR 4 68569304 68569304 single base substitution C T upstream_gene_variant LUSC-US 4 68527924 68527924 single base substitution C A downstream_gene_variant LUSC-US 4 68527924 68527924 single base substitution C A stop_gained E363* 1087G>T LUSC-US 4 68544165 68544165 single base substitution C G exon_variant LUSC-US 4 68544165 68544165 single base substitution C G missense_variant K115N 345G>C MALY-DE 4 68474413 68474413 single base substitution A T downstream_gene_variant MALY-DE 4 68480441 68480441 single base substitution C G 3_prime_UTR_variant MALY-DE 4 68480441 68480441 single base substitution C G downstream_gene_variant MALY-DE 4 68491390 68491390 single base substitution C T downstream_gene_variant MALY-DE 4 68491390 68491390 single base substitution C T intron_variant MALY-DE 4 68491390 68491390 single base substitution C T upstream_gene_variant MALY-DE 4 68501469 68501469 single base substitution C T intron_variant MALY-DE 4 68506627 68506627 single base substitution A C intron_variant MALY-DE 4 68507228 68507228 single base substitution A C intron_variant MALY-DE 4 68527321 68527321 single base substitution T G downstream_gene_variant MALY-DE 4 68527321 68527321 single base substitution T G intron_variant MALY-DE 4 68531153 68531153 single base substitution T G intron_variant MALY-DE 4 68544282 68544282 single base substitution T A intron_variant MALY-DE 4 68557271 68557271 single base substitution A G intron_variant MALY-DE 4 68557578 68557578 single base substitution T G intron_variant MALY-DE 4 68559061 68559061 single base substitution T A intron_variant MALY-DE 4 68561047 68561047 single base substitution T C intron_variant MALY-DE 4 68562237 68562238 deletion of <=200bp AC - intron_variant MALY-DE 4 68562898 68562898 single base substitution A G intron_variant MALY-DE 4 68570956 68570956 single base substitution C T upstream_gene_variant MALY-DE 4 68570959 68570959 single base substitution G T upstream_gene_variant MELA-AU 4 68473810 68473810 single base substitution C T downstream_gene_variant MELA-AU 4 68473888 68473888 single base substitution G A downstream_gene_variant MELA-AU 4 68474314 68474314 single base substitution C T downstream_gene_variant MELA-AU 4 68474875 68474876 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 68474876 68474876 single base substitution G A downstream_gene_variant MELA-AU 4 68474953 68474953 single base substitution T A downstream_gene_variant MELA-AU 4 68475757 68475757 single base substitution G A downstream_gene_variant MELA-AU 4 68476016 68476016 single base substitution G A downstream_gene_variant MELA-AU 4 68476308 68476308 single base substitution G A downstream_gene_variant MELA-AU 4 68476321 68476321 single base substitution G A downstream_gene_variant MELA-AU 4 68476871 68476871 single base substitution G A downstream_gene_variant MELA-AU 4 68477879 68477879 single base substitution G A downstream_gene_variant MELA-AU 4 68477900 68477900 single base substitution G A downstream_gene_variant MELA-AU 4 68478165 68478165 single base substitution A G downstream_gene_variant MELA-AU 4 68478174 68478174 single base substitution A T downstream_gene_variant MELA-AU 4 68478257 68478257 single base substitution G A downstream_gene_variant MELA-AU 4 68478543 68478543 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68478638 68478638 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68478863 68478863 single base substitution C T 3_prime_UTR_variant MELA-AU 4 68478867 68478867 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68479132 68479132 single base substitution T A 3_prime_UTR_variant MELA-AU 4 68479380 68479380 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68479498 68479498 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68480344 68480344 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68480344 68480344 single base substitution G A downstream_gene_variant MELA-AU 4 68480379 68480379 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68480379 68480379 single base substitution G A downstream_gene_variant MELA-AU 4 68480479 68480479 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68480479 68480479 single base substitution G A downstream_gene_variant MELA-AU 4 68480637 68480637 single base substitution A T 3_prime_UTR_variant MELA-AU 4 68480637 68480637 single base substitution A T downstream_gene_variant MELA-AU 4 68480790 68480790 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68480790 68480790 single base substitution G A downstream_gene_variant MELA-AU 4 68482008 68482008 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68482008 68482008 single base substitution G A downstream_gene_variant MELA-AU 4 68482750 68482750 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68482750 68482750 single base substitution G A downstream_gene_variant MELA-AU 4 68483318 68483336 deletion of <=200bp TTGATAAAGTAATTTAAAC - 3_prime_UTR_variant MELA-AU 4 68483318 68483336 deletion of <=200bp TTGATAAAGTAATTTAAAC - downstream_gene_variant MELA-AU 4 68484024 68484024 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68484024 68484024 single base substitution G A downstream_gene_variant MELA-AU 4 68485215 68485215 single base substitution G A intron_variant MELA-AU 4 68485338 68485338 single base substitution G A intron_variant MELA-AU 4 68485573 68485573 single base substitution C T intron_variant MELA-AU 4 68486393 68486393 single base substitution G A intron_variant MELA-AU 4 68486405 68486405 single base substitution T A intron_variant MELA-AU 4 68486865 68486865 single base substitution G A intron_variant MELA-AU 4 68487430 68487430 single base substitution G A intron_variant MELA-AU 4 68487625 68487625 single base substitution G A intron_variant MELA-AU 4 68487788 68487788 single base substitution G A intron_variant MELA-AU 4 68487959 68487959 single base substitution T C intron_variant MELA-AU 4 68488550 68488550 single base substitution T A missense_variant T1008S 3022A>T MELA-AU 4 68488550 68488550 single base substitution T A splice_region_variant MELA-AU 4 68488836 68488836 single base substitution G A intron_variant MELA-AU 4 68488929 68488929 single base substitution G A exon_variant MELA-AU 4 68488929 68488929 single base substitution G A missense_variant S951L 2852C>T MELA-AU 4 68490244 68490244 single base substitution T A intron_variant MELA-AU 4 68490535 68490535 single base substitution A T intron_variant MELA-AU 4 68491048 68491048 single base substitution A C intron_variant MELA-AU 4 68491048 68491048 single base substitution A C upstream_gene_variant MELA-AU 4 68491412 68491412 single base substitution G A downstream_gene_variant MELA-AU 4 68491412 68491412 single base substitution G A intron_variant MELA-AU 4 68491412 68491412 single base substitution G A upstream_gene_variant MELA-AU 4 68491493 68491493 single base substitution G T downstream_gene_variant MELA-AU 4 68491493 68491493 single base substitution G T intron_variant MELA-AU 4 68491493 68491493 single base substitution G T upstream_gene_variant MELA-AU 4 68491587 68491587 single base substitution G A downstream_gene_variant MELA-AU 4 68491587 68491587 single base substitution G A intron_variant MELA-AU 4 68491587 68491587 single base substitution G A upstream_gene_variant MELA-AU 4 68492026 68492026 single base substitution G A downstream_gene_variant MELA-AU 4 68492026 68492026 single base substitution G A intron_variant MELA-AU 4 68492026 68492026 single base substitution G A upstream_gene_variant MELA-AU 4 68492153 68492153 single base substitution G A downstream_gene_variant MELA-AU 4 68492153 68492153 single base substitution G A missense_variant P815S 2443C>T MELA-AU 4 68492153 68492153 single base substitution G A upstream_gene_variant MELA-AU 4 68493302 68493302 single base substitution G A downstream_gene_variant MELA-AU 4 68493302 68493302 single base substitution G A intron_variant MELA-AU 4 68493302 68493302 single base substitution G A upstream_gene_variant MELA-AU 4 68493713 68493713 single base substitution A G downstream_gene_variant MELA-AU 4 68493713 68493713 single base substitution A G intron_variant MELA-AU 4 68493713 68493713 single base substitution A G upstream_gene_variant MELA-AU 4 68494515 68494515 deletion of <=200bp A - downstream_gene_variant MELA-AU 4 68494515 68494515 deletion of <=200bp A - intron_variant MELA-AU 4 68494515 68494515 deletion of <=200bp A - upstream_gene_variant MELA-AU 4 68494723 68494723 single base substitution G A downstream_gene_variant MELA-AU 4 68494723 68494723 single base substitution G A intron_variant MELA-AU 4 68494723 68494723 single base substitution G A upstream_gene_variant MELA-AU 4 68494872 68494872 single base substitution A G downstream_gene_variant MELA-AU 4 68494872 68494872 single base substitution A G intron_variant MELA-AU 4 68494872 68494872 single base substitution A G upstream_gene_variant MELA-AU 4 68495092 68495092 single base substitution G A downstream_gene_variant MELA-AU 4 68495092 68495092 single base substitution G A intron_variant MELA-AU 4 68495092 68495092 single base substitution G A upstream_gene_variant MELA-AU 4 68495965 68495965 single base substitution C T downstream_gene_variant MELA-AU 4 68495965 68495965 single base substitution C T intron_variant MELA-AU 4 68496241 68496241 single base substitution G A synonymous_variant F247F 741C>T MELA-AU 4 68496241 68496241 single base substitution G A synonymous_variant F757F 2271C>T MELA-AU 4 68496750 68496750 single base substitution G A intron_variant MELA-AU 4 68497397 68497397 single base substitution G A intron_variant MELA-AU 4 68497632 68497632 single base substitution G A splice_region_variant MELA-AU 4 68497992 68497992 single base substitution A C intron_variant MELA-AU 4 68498076 68498076 single base substitution G A intron_variant MELA-AU 4 68498083 68498083 single base substitution G T intron_variant MELA-AU 4 68498992 68498992 single base substitution G A intron_variant MELA-AU 4 68500023 68500023 single base substitution G A synonymous_variant S183S 549C>T MELA-AU 4 68500023 68500023 single base substitution G A synonymous_variant S650S 1950C>T MELA-AU 4 68500137 68500137 single base substitution G A intron_variant MELA-AU 4 68501121 68501121 single base substitution A T intron_variant MELA-AU 4 68501737 68501737 single base substitution T G intron_variant MELA-AU 4 68502049 68502050 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 68502296 68502296 single base substitution G A intron_variant MELA-AU 4 68502772 68502772 single base substitution G A intron_variant MELA-AU 4 68502890 68502890 single base substitution G A intron_variant MELA-AU 4 68502910 68502910 single base substitution A T intron_variant MELA-AU 4 68503024 68503024 single base substitution G A intron_variant MELA-AU 4 68503660 68503660 single base substitution A G intron_variant MELA-AU 4 68504049 68504049 single base substitution G A intron_variant MELA-AU 4 68504089 68504089 single base substitution G A intron_variant MELA-AU 4 68504099 68504099 single base substitution C T intron_variant MELA-AU 4 68504459 68504459 single base substitution G A intron_variant MELA-AU 4 68505798 68505798 single base substitution T C intron_variant MELA-AU 4 68506641 68506641 single base substitution A G intron_variant MELA-AU 4 68507190 68507191 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 4 68507727 68507727 single base substitution G C intron_variant MELA-AU 4 68507789 68507790 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 4 68507799 68507799 single base substitution C T intron_variant MELA-AU 4 68507817 68507817 single base substitution T A intron_variant MELA-AU 4 68508055 68508055 single base substitution T A intron_variant MELA-AU 4 68508090 68508090 single base substitution A G intron_variant MELA-AU 4 68508223 68508223 single base substitution C T intron_variant MELA-AU 4 68508531 68508531 single base substitution G A intron_variant MELA-AU 4 68508645 68508645 single base substitution C T intron_variant MELA-AU 4 68509880 68509880 single base substitution C T intron_variant MELA-AU 4 68510504 68510504 single base substitution G A splice_region_variant MELA-AU 4 68510504 68510504 single base substitution G A upstream_gene_variant MELA-AU 4 68510946 68510946 single base substitution A T intron_variant MELA-AU 4 68510946 68510946 single base substitution A T upstream_gene_variant MELA-AU 4 68511362 68511362 single base substitution T C intron_variant MELA-AU 4 68511362 68511362 single base substitution T C upstream_gene_variant MELA-AU 4 68511764 68511764 single base substitution G A intron_variant MELA-AU 4 68511764 68511764 single base substitution G A upstream_gene_variant MELA-AU 4 68512092 68512092 single base substitution G A intron_variant MELA-AU 4 68512092 68512092 single base substitution G A upstream_gene_variant MELA-AU 4 68512208 68512208 single base substitution G A intron_variant MELA-AU 4 68512208 68512208 single base substitution G A upstream_gene_variant MELA-AU 4 68512438 68512438 single base substitution T G splice_region_variant MELA-AU 4 68512438 68512438 single base substitution T G upstream_gene_variant MELA-AU 4 68512609 68512609 single base substitution G A intron_variant MELA-AU 4 68512609 68512609 single base substitution G A upstream_gene_variant MELA-AU 4 68512786 68512786 single base substitution G A intron_variant MELA-AU 4 68512786 68512786 single base substitution G A upstream_gene_variant MELA-AU 4 68514006 68514006 single base substitution G A intron_variant MELA-AU 4 68514006 68514006 single base substitution G A upstream_gene_variant MELA-AU 4 68514187 68514187 single base substitution A G intron_variant MELA-AU 4 68514187 68514187 single base substitution A G upstream_gene_variant MELA-AU 4 68514609 68514609 single base substitution T C intron_variant MELA-AU 4 68514609 68514609 single base substitution T C upstream_gene_variant MELA-AU 4 68515022 68515022 single base substitution C A intron_variant MELA-AU 4 68515022 68515022 single base substitution C A upstream_gene_variant MELA-AU 4 68515152 68515152 single base substitution G A intron_variant MELA-AU 4 68515152 68515152 single base substitution G A upstream_gene_variant MELA-AU 4 68515267 68515267 single base substitution G A intron_variant MELA-AU 4 68515267 68515267 single base substitution G A upstream_gene_variant MELA-AU 4 68515334 68515334 single base substitution G A intron_variant MELA-AU 4 68515334 68515334 single base substitution G A upstream_gene_variant MELA-AU 4 68515500 68515500 single base substitution G A intron_variant MELA-AU 4 68516070 68516070 single base substitution G A intron_variant MELA-AU 4 68516080 68516080 single base substitution G A intron_variant MELA-AU 4 68516391 68516391 single base substitution T G intron_variant MELA-AU 4 68516699 68516699 single base substitution G A intron_variant MELA-AU 4 68516950 68516950 single base substitution G A intron_variant MELA-AU 4 68516952 68516953 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 4 68518955 68518955 single base substitution G A intron_variant MELA-AU 4 68519053 68519053 single base substitution G A intron_variant MELA-AU 4 68519195 68519195 single base substitution G A intron_variant MELA-AU 4 68519220 68519220 single base substitution G A intron_variant MELA-AU 4 68519648 68519648 single base substitution G A intron_variant MELA-AU 4 68519787 68519787 single base substitution A G intron_variant MELA-AU 4 68520007 68520007 single base substitution G A intron_variant MELA-AU 4 68520171 68520171 single base substitution G A intron_variant MELA-AU 4 68520810 68520810 single base substitution G A intron_variant MELA-AU 4 68521169 68521169 single base substitution A G intron_variant MELA-AU 4 68521188 68521188 single base substitution A G intron_variant MELA-AU 4 68521269 68521269 single base substitution G A intron_variant MELA-AU 4 68521572 68521572 single base substitution G A intron_variant MELA-AU 4 68521751 68521751 single base substitution G A intron_variant MELA-AU 4 68522082 68522082 single base substitution G A intron_variant MELA-AU 4 68522440 68522440 single base substitution G A downstream_gene_variant MELA-AU 4 68522440 68522440 single base substitution G A intron_variant MELA-AU 4 68522445 68522445 single base substitution G A downstream_gene_variant MELA-AU 4 68522445 68522445 single base substitution G A intron_variant MELA-AU 4 68523752 68523752 single base substitution G A downstream_gene_variant MELA-AU 4 68523752 68523752 single base substitution G A intron_variant MELA-AU 4 68523997 68523997 single base substitution G A downstream_gene_variant MELA-AU 4 68523997 68523997 single base substitution G A intron_variant MELA-AU 4 68524599 68524599 single base substitution G A downstream_gene_variant MELA-AU 4 68524599 68524599 single base substitution G A intron_variant MELA-AU 4 68525418 68525418 single base substitution G A downstream_gene_variant MELA-AU 4 68525418 68525418 single base substitution G A intron_variant MELA-AU 4 68525605 68525605 single base substitution G A downstream_gene_variant MELA-AU 4 68525605 68525605 single base substitution G A intron_variant MELA-AU 4 68525693 68525693 single base substitution G A downstream_gene_variant MELA-AU 4 68525693 68525693 single base substitution G A intron_variant MELA-AU 4 68525813 68525813 single base substitution C T downstream_gene_variant MELA-AU 4 68525813 68525813 single base substitution C T intron_variant MELA-AU 4 68525835 68525835 single base substitution G A downstream_gene_variant MELA-AU 4 68525835 68525835 single base substitution G A intron_variant MELA-AU 4 68525893 68525893 single base substitution G A downstream_gene_variant MELA-AU 4 68525893 68525893 single base substitution G A intron_variant MELA-AU 4 68525997 68525997 single base substitution G A downstream_gene_variant MELA-AU 4 68525997 68525997 single base substitution G A intron_variant MELA-AU 4 68526032 68526032 single base substitution G A downstream_gene_variant MELA-AU 4 68526032 68526032 single base substitution G A intron_variant MELA-AU 4 68526378 68526378 single base substitution G A downstream_gene_variant MELA-AU 4 68526378 68526378 single base substitution G A intron_variant MELA-AU 4 68526662 68526662 single base substitution G A downstream_gene_variant MELA-AU 4 68526662 68526662 single base substitution G A intron_variant MELA-AU 4 68526750 68526750 single base substitution G A downstream_gene_variant MELA-AU 4 68526750 68526750 single base substitution G A intron_variant MELA-AU 4 68527371 68527371 single base substitution C T downstream_gene_variant MELA-AU 4 68527371 68527371 single base substitution C T intron_variant MELA-AU 4 68527441 68527441 single base substitution G A 3_prime_UTR_variant MELA-AU 4 68527441 68527441 single base substitution G A downstream_gene_variant MELA-AU 4 68527441 68527441 single base substitution G A intron_variant MELA-AU 4 68528122 68528122 single base substitution G T downstream_gene_variant MELA-AU 4 68528122 68528122 single base substitution G T intron_variant MELA-AU 4 68528192 68528192 single base substitution T G downstream_gene_variant MELA-AU 4 68528192 68528192 single base substitution T G intron_variant MELA-AU 4 68528543 68528543 single base substitution G A exon_variant MELA-AU 4 68528543 68528543 single base substitution G A intron_variant MELA-AU 4 68529131 68529131 single base substitution G A exon_variant MELA-AU 4 68529131 68529131 single base substitution G A intron_variant MELA-AU 4 68529492 68529492 single base substitution G A exon_variant MELA-AU 4 68529492 68529492 single base substitution G A intron_variant MELA-AU 4 68530113 68530113 single base substitution G A intron_variant MELA-AU 4 68531155 68531155 single base substitution T G intron_variant MELA-AU 4 68531459 68531459 single base substitution A G intron_variant MELA-AU 4 68531522 68531522 single base substitution G A intron_variant MELA-AU 4 68531685 68531685 single base substitution G A intron_variant MELA-AU 4 68531817 68531817 single base substitution G A intron_variant MELA-AU 4 68532195 68532195 single base substitution G A intron_variant MELA-AU 4 68532616 68532616 single base substitution G A intron_variant MELA-AU 4 68532904 68532904 single base substitution G A intron_variant MELA-AU 4 68534015 68534015 single base substitution A G intron_variant MELA-AU 4 68534060 68534060 single base substitution G A intron_variant MELA-AU 4 68534091 68534091 single base substitution G A intron_variant MELA-AU 4 68534573 68534573 single base substitution T A intron_variant MELA-AU 4 68535095 68535095 single base substitution G A intron_variant MELA-AU 4 68535313 68535313 single base substitution G A intron_variant MELA-AU 4 68535567 68535567 single base substitution C A intron_variant MELA-AU 4 68536145 68536145 single base substitution C T intron_variant MELA-AU 4 68536636 68536636 single base substitution A G intron_variant MELA-AU 4 68538592 68538592 single base substitution G A intron_variant MELA-AU 4 68539044 68539044 single base substitution G A intron_variant MELA-AU 4 68539290 68539290 single base substitution G A downstream_gene_variant MELA-AU 4 68539290 68539290 single base substitution G A intron_variant MELA-AU 4 68539976 68539976 single base substitution G A downstream_gene_variant MELA-AU 4 68539976 68539976 single base substitution G A intron_variant MELA-AU 4 68539991 68539991 single base substitution G A downstream_gene_variant MELA-AU 4 68539991 68539991 single base substitution G A intron_variant MELA-AU 4 68540348 68540349 multiple base substitution (>=2bp and <=200bp) CA TC downstream_gene_variant MELA-AU 4 68540348 68540349 multiple base substitution (>=2bp and <=200bp) CA TC intron_variant MELA-AU 4 68540646 68540646 single base substitution G A downstream_gene_variant MELA-AU 4 68540646 68540646 single base substitution G A intron_variant MELA-AU 4 68541712 68541712 single base substitution G A downstream_gene_variant MELA-AU 4 68541712 68541712 single base substitution G A intron_variant MELA-AU 4 68541794 68541794 single base substitution T C downstream_gene_variant MELA-AU 4 68541794 68541794 single base substitution T C intron_variant MELA-AU 4 68541928 68541928 single base substitution G A downstream_gene_variant MELA-AU 4 68541928 68541928 single base substitution G A intron_variant MELA-AU 4 68541962 68541962 single base substitution G A downstream_gene_variant MELA-AU 4 68541962 68541962 single base substitution G A intron_variant MELA-AU 4 68542148 68542148 single base substitution G A downstream_gene_variant MELA-AU 4 68542148 68542148 single base substitution G A intron_variant MELA-AU 4 68542386 68542386 single base substitution A G downstream_gene_variant MELA-AU 4 68542386 68542386 single base substitution A G intron_variant MELA-AU 4 68542852 68542852 single base substitution G A downstream_gene_variant MELA-AU 4 68542852 68542852 single base substitution G A intron_variant MELA-AU 4 68543336 68543336 single base substitution T C downstream_gene_variant MELA-AU 4 68543336 68543336 single base substitution T C exon_variant MELA-AU 4 68543336 68543336 single base substitution T C missense_variant K153R 458A>G MELA-AU 4 68543402 68543402 single base substitution G A downstream_gene_variant MELA-AU 4 68543402 68543402 single base substitution G A exon_variant MELA-AU 4 68543402 68543402 single base substitution G A missense_variant P131L 392C>T MELA-AU 4 68543863 68543863 single base substitution A G downstream_gene_variant MELA-AU 4 68543863 68543863 single base substitution A G intron_variant MELA-AU 4 68544120 68544120 single base substitution T A downstream_gene_variant MELA-AU 4 68544120 68544120 single base substitution T A intron_variant MELA-AU 4 68544360 68544360 single base substitution G A intron_variant MELA-AU 4 68544416 68544416 single base substitution G A intron_variant MELA-AU 4 68544827 68544827 single base substitution G A intron_variant MELA-AU 4 68546214 68546214 single base substitution G A intron_variant MELA-AU 4 68547156 68547156 single base substitution G A intron_variant MELA-AU 4 68547648 68547648 single base substitution A G intron_variant MELA-AU 4 68547686 68547686 single base substitution G A intron_variant MELA-AU 4 68547707 68547707 deletion of <=200bp A - intron_variant MELA-AU 4 68547994 68547994 single base substitution G A intron_variant MELA-AU 4 68548418 68548418 single base substitution G A intron_variant MELA-AU 4 68548877 68548877 single base substitution A C intron_variant MELA-AU 4 68549509 68549509 single base substitution G A intron_variant MELA-AU 4 68549550 68549551 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 4 68549690 68549690 single base substitution G A intron_variant MELA-AU 4 68553369 68553369 single base substitution G A intron_variant MELA-AU 4 68554535 68554535 single base substitution G A intron_variant MELA-AU 4 68554556 68554556 single base substitution G A intron_variant MELA-AU 4 68555154 68555154 single base substitution G A intron_variant MELA-AU 4 68555161 68555161 single base substitution G A intron_variant MELA-AU 4 68555837 68555837 single base substitution C T intron_variant MELA-AU 4 68556833 68556833 single base substitution A T intron_variant MELA-AU 4 68556859 68556859 single base substitution G A intron_variant MELA-AU 4 68556873 68556873 single base substitution G A intron_variant MELA-AU 4 68557015 68557015 single base substitution G A intron_variant MELA-AU 4 68557964 68557964 single base substitution C T intron_variant MELA-AU 4 68558100 68558100 single base substitution G A intron_variant MELA-AU 4 68558192 68558192 single base substitution A G intron_variant MELA-AU 4 68558530 68558531 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 68559447 68559447 single base substitution G A intron_variant MELA-AU 4 68559728 68559728 single base substitution T C intron_variant MELA-AU 4 68560205 68560205 single base substitution G A intron_variant MELA-AU 4 68560245 68560245 single base substitution G A intron_variant MELA-AU 4 68560283 68560283 insertion of <=200bp - T intron_variant MELA-AU 4 68560441 68560441 single base substitution C T intron_variant MELA-AU 4 68563626 68563626 single base substitution G A intron_variant MELA-AU 4 68563856 68563856 single base substitution G A intron_variant MELA-AU 4 68564225 68564225 single base substitution G A intron_variant MELA-AU 4 68565169 68565169 single base substitution G A intron_variant MELA-AU 4 68565234 68565234 single base substitution G T intron_variant MELA-AU 4 68565274 68565274 single base substitution C G intron_variant MELA-AU 4 68565699 68565700 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 68566083 68566083 single base substitution T G intron_variant MELA-AU 4 68567043 68567044 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 68568057 68568057 single base substitution G A upstream_gene_variant MELA-AU 4 68568483 68568483 single base substitution G T upstream_gene_variant MELA-AU 4 68568491 68568491 single base substitution T G upstream_gene_variant MELA-AU 4 68568885 68568885 single base substitution T C upstream_gene_variant MELA-AU 4 68569092 68569092 single base substitution C T upstream_gene_variant MELA-AU 4 68570275 68570275 single base substitution T C upstream_gene_variant MELA-AU 4 68570286 68570287 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 68571246 68571246 single base substitution C T upstream_gene_variant MELA-AU 4 68571711 68571711 single base substitution C T upstream_gene_variant ORCA-IN 4 68486067 68486067 single base substitution C G intron_variant ORCA-IN 4 68565896 68565896 single base substitution T A intron_variant OV-AU 4 68474104 68474104 single base substitution C A downstream_gene_variant OV-AU 4 68489076 68489076 single base substitution A G intron_variant OV-AU 4 68506268 68506268 single base substitution G C intron_variant OV-AU 4 68512905 68512905 single base substitution T G intron_variant OV-AU 4 68512905 68512905 single base substitution T G upstream_gene_variant OV-AU 4 68514360 68514360 single base substitution C G intron_variant OV-AU 4 68514360 68514360 single base substitution C G upstream_gene_variant OV-AU 4 68516195 68516195 single base substitution T C intron_variant OV-AU 4 68519648 68519648 single base substitution G C intron_variant OV-AU 4 68524347 68524347 single base substitution C A downstream_gene_variant OV-AU 4 68524347 68524347 single base substitution C A intron_variant OV-AU 4 68529458 68529458 single base substitution T C exon_variant OV-AU 4 68529458 68529458 single base substitution T C intron_variant OV-AU 4 68529762 68529762 single base substitution T C intron_variant OV-AU 4 68535751 68535751 single base substitution C T intron_variant OV-AU 4 68539074 68539074 single base substitution G C intron_variant OV-AU 4 68540747 68540747 single base substitution C G downstream_gene_variant OV-AU 4 68540747 68540747 single base substitution C G intron_variant OV-AU 4 68547484 68547484 single base substitution A C intron_variant OV-AU 4 68552373 68552373 single base substitution A G intron_variant OV-AU 4 68552454 68552454 single base substitution G C intron_variant OV-AU 4 68552659 68552659 single base substitution G T intron_variant OV-AU 4 68557596 68557596 single base substitution C G intron_variant OV-AU 4 68566349 68566349 single base substitution G C intron_variant OV-AU 4 68566765 68566765 single base substitution A C splice_donor_variant OV-AU 4 68567388 68567388 single base substitution T C upstream_gene_variant OV-AU 4 68569050 68569050 single base substitution T G upstream_gene_variant OV-AU 4 68571585 68571585 single base substitution G A upstream_gene_variant PACA-AU 4 68478035 68478035 single base substitution T A downstream_gene_variant PACA-AU 4 68490770 68490770 single base substitution C T exon_variant PACA-AU 4 68490770 68490770 single base substitution C T missense_variant R885H 2654G>A PACA-AU 4 68494917 68494917 single base substitution A C downstream_gene_variant PACA-AU 4 68494917 68494917 single base substitution A C intron_variant PACA-AU 4 68494917 68494917 single base substitution A C upstream_gene_variant PACA-AU 4 68495286 68495286 single base substitution G A downstream_gene_variant PACA-AU 4 68495286 68495286 single base substitution G A intron_variant PACA-AU 4 68495286 68495286 single base substitution G A upstream_gene_variant PACA-AU 4 68496072 68496072 single base substitution C G downstream_gene_variant PACA-AU 4 68496072 68496072 single base substitution C G intron_variant PACA-AU 4 68498043 68498043 single base substitution C G intron_variant PACA-AU 4 68502862 68502862 single base substitution G A intron_variant PACA-AU 4 68504818 68504818 single base substitution C T missense_variant D527N 1579G>A PACA-AU 4 68504818 68504818 single base substitution C T missense_variant D60N 178G>A PACA-AU 4 68506517 68506517 single base substitution G C intron_variant PACA-AU 4 68506664 68506664 single base substitution C A intron_variant PACA-AU 4 68508030 68508030 single base substitution A G intron_variant PACA-AU 4 68509981 68509981 single base substitution C A intron_variant PACA-AU 4 68510247 68510247 single base substitution G A intron_variant PACA-AU 4 68525505 68525505 single base substitution T C downstream_gene_variant PACA-AU 4 68525505 68525505 single base substitution T C intron_variant PACA-AU 4 68529223 68529223 single base substitution T A exon_variant PACA-AU 4 68529223 68529223 single base substitution T A intron_variant PACA-AU 4 68533522 68533522 single base substitution C T intron_variant PACA-AU 4 68536746 68536760 deletion of <=200bp AAAAGCTGAGAGCAG - intron_variant PACA-AU 4 68543053 68543053 single base substitution G T downstream_gene_variant PACA-AU 4 68543053 68543053 single base substitution G T intron_variant PACA-AU 4 68550202 68550202 deletion of <=200bp T - intron_variant PACA-AU 4 68557893 68557893 single base substitution G A intron_variant PACA-AU 4 68560383 68560383 single base substitution G C intron_variant PACA-AU 4 68561510 68561510 single base substitution C T intron_variant PACA-AU 4 68562319 68562319 single base substitution C T intron_variant PACA-AU 4 68563520 68563520 single base substitution C G intron_variant PACA-AU 4 68566468 68566468 single base substitution C G intron_variant PACA-AU 4 68568478 68568478 single base substitution T C upstream_gene_variant PACA-CA 4 68474141 68474141 deletion of <=200bp C - downstream_gene_variant PACA-CA 4 68474783 68474783 single base substitution G A downstream_gene_variant PACA-CA 4 68476792 68476792 single base substitution A T downstream_gene_variant PACA-CA 4 68478067 68478067 single base substitution T C downstream_gene_variant PACA-CA 4 68480495 68480495 single base substitution A G 3_prime_UTR_variant PACA-CA 4 68480495 68480495 single base substitution A G downstream_gene_variant PACA-CA 4 68483469 68483469 single base substitution A T 3_prime_UTR_variant PACA-CA 4 68483469 68483469 single base substitution A T downstream_gene_variant PACA-CA 4 68483651 68483651 single base substitution C T 3_prime_UTR_variant PACA-CA 4 68483651 68483651 single base substitution C T downstream_gene_variant PACA-CA 4 68489940 68489940 single base substitution C T intron_variant PACA-CA 4 68489940 68489940 single base substitution C T missense_variant G915D 2744G>A PACA-CA 4 68491943 68491943 single base substitution A T downstream_gene_variant PACA-CA 4 68491943 68491943 single base substitution A T intron_variant PACA-CA 4 68491943 68491943 single base substitution A T upstream_gene_variant PACA-CA 4 68494342 68494342 single base substitution C T downstream_gene_variant PACA-CA 4 68494342 68494342 single base substitution C T intron_variant PACA-CA 4 68494342 68494342 single base substitution C T upstream_gene_variant PACA-CA 4 68498413 68498413 single base substitution T G intron_variant PACA-CA 4 68502230 68502230 single base substitution C T intron_variant PACA-CA 4 68505280 68505280 single base substitution A T intron_variant PACA-CA 4 68507121 68507121 single base substitution A G intron_variant PACA-CA 4 68511187 68511187 single base substitution C T intron_variant PACA-CA 4 68511187 68511187 single base substitution C T upstream_gene_variant PACA-CA 4 68512104 68512104 single base substitution T C intron_variant PACA-CA 4 68512104 68512104 single base substitution T C upstream_gene_variant PACA-CA 4 68514391 68514406 deletion of <=200bp ACTTTTGTAAGTTTAT - intron_variant PACA-CA 4 68514391 68514406 deletion of <=200bp ACTTTTGTAAGTTTAT - upstream_gene_variant PACA-CA 4 68519659 68519659 single base substitution T C intron_variant PACA-CA 4 68520093 68520093 single base substitution C A intron_variant PACA-CA 4 68520516 68520516 single base substitution C T intron_variant PACA-CA 4 68524509 68524509 single base substitution C T downstream_gene_variant PACA-CA 4 68524509 68524509 single base substitution C T intron_variant PACA-CA 4 68524634 68524634 single base substitution A G downstream_gene_variant PACA-CA 4 68524634 68524634 single base substitution A G intron_variant PACA-CA 4 68528205 68528205 single base substitution G T exon_variant PACA-CA 4 68528205 68528205 single base substitution G T intron_variant PACA-CA 4 68531024 68531024 single base substitution A G intron_variant PACA-CA 4 68531269 68531269 single base substitution G A intron_variant PACA-CA 4 68535402 68535402 single base substitution T C intron_variant PACA-CA 4 68536770 68536770 deletion of <=200bp A - intron_variant PACA-CA 4 68537701 68537701 single base substitution C A intron_variant PACA-CA 4 68555181 68555181 single base substitution T C intron_variant PACA-CA 4 68555196 68555196 single base substitution C T intron_variant PACA-CA 4 68556540 68556540 single base substitution G C intron_variant PACA-CA 4 68557177 68557177 single base substitution T G intron_variant PACA-CA 4 68557901 68557901 insertion of <=200bp - A intron_variant PACA-CA 4 68564240 68564240 single base substitution A C intron_variant PACA-CA 4 68565388 68565388 single base substitution G A intron_variant PACA-CA 4 68569469 68569469 single base substitution A G upstream_gene_variant PACA-CA 4 68569980 68569980 single base substitution C T upstream_gene_variant PACA-CA 4 68571585 68571585 single base substitution G T upstream_gene_variant PAEN-AU 4 68497812 68497812 single base substitution T C intron_variant PAEN-AU 4 68515098 68515098 single base substitution C T intron_variant PAEN-AU 4 68515098 68515098 single base substitution C T upstream_gene_variant PAEN-AU 4 68522462 68522462 single base substitution T C downstream_gene_variant PAEN-AU 4 68522462 68522462 single base substitution T C intron_variant PAEN-AU 4 68522643 68522643 single base substitution T C downstream_gene_variant PAEN-AU 4 68522643 68522643 single base substitution T C intron_variant PAEN-AU 4 68525664 68525664 single base substitution G C downstream_gene_variant PAEN-AU 4 68525664 68525664 single base substitution G C intron_variant PAEN-AU 4 68552647 68552647 single base substitution G C intron_variant PAEN-IT 4 68490693 68490693 single base substitution C G intron_variant PAEN-IT 4 68501675 68501675 single base substitution T A intron_variant PAEN-IT 4 68548716 68548716 single base substitution C A intron_variant PBCA-DE 4 68493093 68493093 single base substitution G C downstream_gene_variant PBCA-DE 4 68493093 68493093 single base substitution G C intron_variant PBCA-DE 4 68493093 68493093 single base substitution G C upstream_gene_variant PBCA-DE 4 68493853 68493853 single base substitution G T downstream_gene_variant PBCA-DE 4 68493853 68493853 single base substitution G T intron_variant PBCA-DE 4 68493853 68493853 single base substitution G T upstream_gene_variant PBCA-DE 4 68505767 68505767 deletion of <=200bp A - intron_variant PBCA-DE 4 68507382 68507408 deletion of <=200bp CTTGAACTCCTAACCCCCTAATTAGGC - intron_variant PBCA-DE 4 68537587 68537587 single base substitution C A intron_variant PBCA-DE 4 68562237 68562238 deletion of <=200bp AC - intron_variant PBCA-DE 4 68562504 68562504 single base substitution G T intron_variant PRAD-CA 4 68483372 68483372 single base substitution T C 3_prime_UTR_variant PRAD-CA 4 68483372 68483372 single base substitution T C downstream_gene_variant PRAD-CA 4 68531153 68531153 single base substitution T G intron_variant PRAD-CA 4 68547588 68547588 single base substitution G A intron_variant PRAD-UK 4 68490225 68490225 single base substitution A G intron_variant PRAD-UK 4 68498895 68498895 single base substitution T C intron_variant PRAD-UK 4 68501639 68501639 single base substitution T A intron_variant PRAD-UK 4 68517353 68517353 single base substitution G C intron_variant PRAD-UK 4 68525867 68525867 single base substitution A C downstream_gene_variant PRAD-UK 4 68525867 68525867 single base substitution A C intron_variant PRAD-UK 4 68529182 68529182 single base substitution C T exon_variant PRAD-UK 4 68529182 68529182 single base substitution C T intron_variant PRAD-UK 4 68547242 68547242 insertion of <=200bp - A intron_variant PRAD-US 4 68529609 68529609 insertion of <=200bp - T exon_variant PRAD-US 4 68529609 68529609 insertion of <=200bp - T frameshift_variant N318N? READ-US 4 68534320 68534320 single base substitution G A exon_variant READ-US 4 68534320 68534320 single base substitution G A stop_gained R248* 742C>T RECA-EU 4 68479885 68479885 single base substitution T A 3_prime_UTR_variant RECA-EU 4 68479885 68479885 single base substitution T A downstream_gene_variant RECA-EU 4 68492547 68492547 single base substitution C T downstream_gene_variant RECA-EU 4 68492547 68492547 single base substitution C T intron_variant RECA-EU 4 68492547 68492547 single base substitution C T upstream_gene_variant RECA-EU 4 68493746 68493746 single base substitution C G downstream_gene_variant RECA-EU 4 68493746 68493746 single base substitution C G intron_variant RECA-EU 4 68493746 68493746 single base substitution C G upstream_gene_variant RECA-EU 4 68496141 68496141 single base substitution A C downstream_gene_variant RECA-EU 4 68496141 68496141 single base substitution A C intron_variant RECA-EU 4 68500736 68500736 single base substitution G C intron_variant RECA-EU 4 68511963 68511963 single base substitution T A intron_variant RECA-EU 4 68511963 68511963 single base substitution T A upstream_gene_variant RECA-EU 4 68521565 68521565 single base substitution T G intron_variant RECA-EU 4 68542498 68542498 single base substitution T A downstream_gene_variant RECA-EU 4 68542498 68542498 single base substitution T A intron_variant RECA-EU 4 68549674 68549674 single base substitution A T intron_variant RECA-EU 4 68551534 68551534 single base substitution T C intron_variant RECA-EU 4 68557909 68557909 single base substitution A G intron_variant RECA-EU 4 68560374 68560374 single base substitution C G intron_variant RECA-EU 4 68561695 68561695 single base substitution T G intron_variant RECA-EU 4 68569802 68569802 single base substitution C T upstream_gene_variant SKCA-BR 4 68478900 68478900 single base substitution A T 3_prime_UTR_variant SKCA-BR 4 68483774 68483774 single base substitution C A 3_prime_UTR_variant SKCA-BR 4 68483774 68483774 single base substitution C A downstream_gene_variant SKCA-BR 4 68486356 68486356 single base substitution G A intron_variant SKCA-BR 4 68493733 68493733 single base substitution G A downstream_gene_variant SKCA-BR 4 68493733 68493733 single base substitution G A intron_variant SKCA-BR 4 68493733 68493733 single base substitution G A upstream_gene_variant SKCA-BR 4 68496304 68496304 single base substitution G A intron_variant SKCA-BR 4 68501468 68501468 insertion of <=200bp - TCTTGTTGTTCAATCTAGTAATTTCTCTCTTTTCTA intron_variant SKCA-BR 4 68501813 68501813 single base substitution A G intron_variant SKCA-BR 4 68502540 68502540 single base substitution G A intron_variant SKCA-BR 4 68507409 68507409 single base substitution A T intron_variant SKCA-BR 4 68507963 68507963 single base substitution A T intron_variant SKCA-BR 4 68511788 68511788 single base substitution T G intron_variant SKCA-BR 4 68511788 68511788 single base substitution T G upstream_gene_variant SKCA-BR 4 68514172 68514172 single base substitution T A intron_variant SKCA-BR 4 68514172 68514172 single base substitution T A upstream_gene_variant SKCA-BR 4 68514522 68514522 single base substitution G A intron_variant SKCA-BR 4 68514522 68514522 single base substitution G A upstream_gene_variant SKCA-BR 4 68514523 68514523 single base substitution G A intron_variant SKCA-BR 4 68514523 68514523 single base substitution G A upstream_gene_variant SKCA-BR 4 68516430 68516430 single base substitution G C intron_variant SKCA-BR 4 68516469 68516469 single base substitution G C intron_variant SKCA-BR 4 68516508 68516508 single base substitution G A intron_variant SKCA-BR 4 68516568 68516568 single base substitution G C intron_variant SKCA-BR 4 68516951 68516951 single base substitution G A intron_variant SKCA-BR 4 68518374 68518374 single base substitution C T intron_variant SKCA-BR 4 68519116 68519116 single base substitution G A intron_variant SKCA-BR 4 68519175 68519175 single base substitution G A intron_variant SKCA-BR 4 68523562 68523562 single base substitution G A downstream_gene_variant SKCA-BR 4 68523562 68523562 single base substitution G A intron_variant SKCA-BR 4 68525325 68525325 insertion of <=200bp - GGTATTTTATATAGGAATATATAAAATATAT downstream_gene_variant SKCA-BR 4 68525325 68525325 insertion of <=200bp - GGTATTTTATATAGGAATATATAAAATATAT intron_variant SKCA-BR 4 68525353 68525353 single base substitution C T downstream_gene_variant SKCA-BR 4 68525353 68525353 single base substitution C T intron_variant SKCA-BR 4 68525356 68525356 single base substitution A G downstream_gene_variant SKCA-BR 4 68525356 68525356 single base substitution A G intron_variant SKCA-BR 4 68527243 68527243 single base substitution G A downstream_gene_variant SKCA-BR 4 68527243 68527243 single base substitution G A intron_variant SKCA-BR 4 68528111 68528111 single base substitution G A downstream_gene_variant SKCA-BR 4 68528111 68528111 single base substitution G A intron_variant SKCA-BR 4 68528632 68528632 single base substitution G A exon_variant SKCA-BR 4 68528632 68528632 single base substitution G A intron_variant SKCA-BR 4 68531149 68531149 insertion of <=200bp - GT intron_variant SKCA-BR 4 68532701 68532701 single base substitution G A intron_variant SKCA-BR 4 68536206 68536206 single base substitution G A exon_variant SKCA-BR 4 68536206 68536206 single base substitution G A synonymous_variant F217F 651C>T SKCA-BR 4 68545265 68545265 single base substitution A C intron_variant SKCA-BR 4 68545355 68545355 single base substitution G A intron_variant SKCA-BR 4 68548051 68548051 single base substitution G A intron_variant SKCA-BR 4 68552561 68552561 single base substitution T A intron_variant SKCA-BR 4 68555481 68555481 single base substitution T C intron_variant SKCA-BR 4 68556547 68556547 single base substitution G A intron_variant SKCA-BR 4 68558671 68558671 single base substitution G A intron_variant SKCA-BR 4 68570659 68570659 single base substitution T G upstream_gene_variant SKCA-BR 4 68570780 68570780 single base substitution A C upstream_gene_variant SKCA-BR 4 68571065 68571065 single base substitution A G upstream_gene_variant SKCM-US 4 68489893 68489893 single base substitution G A intron_variant SKCM-US 4 68489893 68489893 single base substitution G A missense_variant P931S 2791C>T SKCM-US 4 68500023 68500023 single base substitution G A synonymous_variant S183S 549C>T SKCM-US 4 68500023 68500023 single base substitution G A synonymous_variant S650S 1950C>T SKCM-US 4 68500030 68500030 single base substitution G A missense_variant S181F 542C>T SKCM-US 4 68500030 68500030 single base substitution G A missense_variant S648F 1943C>T SKCM-US 4 68500193 68500193 single base substitution G A missense_variant S162F 485C>T SKCM-US 4 68500193 68500193 single base substitution G A missense_variant S629F 1886C>T SKCM-US 4 68543347 68543347 single base substitution G A downstream_gene_variant SKCM-US 4 68543347 68543347 single base substitution G A exon_variant SKCM-US 4 68543347 68543347 single base substitution G A synonymous_variant S149S 447C>T SKCM-US 4 68547871 68547871 single base substitution G A exon_variant SKCM-US 4 68547871 68547871 single base substitution G A synonymous_variant F65F 195C>T SKCM-US 4 68566789 68566789 single base substitution A T exon_variant SKCM-US 4 68566789 68566789 single base substitution A T missense_variant C17S 49T>A STAD-US 4 68489854 68489854 single base substitution T C intron_variant STAD-US 4 68489854 68489854 single base substitution T C missense_variant T944A 2830A>G STAD-US 4 68490772 68490772 single base substitution C A exon_variant STAD-US 4 68490772 68490772 single base substitution C A missense_variant K884N 2652G>T STAD-US 4 68490787 68490787 single base substitution G A exon_variant STAD-US 4 68490787 68490787 single base substitution G A synonymous_variant D879D 2637C>T STAD-US 4 68492086 68492086 single base substitution G A downstream_gene_variant STAD-US 4 68492086 68492086 single base substitution G A missense_variant A837V 2510C>T STAD-US 4 68492086 68492086 single base substitution G A upstream_gene_variant STAD-US 4 68497427 68497427 single base substitution A C missense_variant L243V 727T>G STAD-US 4 68497427 68497427 single base substitution A C missense_variant L753V 2257T>G STAD-US 4 68528931 68528931 single base substitution T C exon_variant STAD-US 4 68528931 68528931 single base substitution T C splice_region_variant STAD-US 4 68530907 68530907 insertion of <=200bp - A frameshift_variant F299F? STAD-US 4 68530907 68530907 insertion of <=200bp - A splice_region_variant STAD-US 4 68536191 68536191 single base substitution C T exon_variant STAD-US 4 68536191 68536191 single base substitution C T synonymous_variant T222T 666G>A STAD-US 4 68536260 68536260 single base substitution G A exon_variant STAD-US 4 68536260 68536260 single base substitution G A synonymous_variant F199F 597C>T STAD-US 4 68547904 68547904 single base substitution T C exon_variant STAD-US 4 68547904 68547904 single base substitution T C synonymous_variant T54T 162A>G THCA-US 4 68500218 68500218 single base substitution C G missense_variant E154Q 460G>C THCA-US 4 68500218 68500218 single base substitution C G missense_variant E621Q 1861G>C UCEC-US 4 68488549 68488549 single base substitution G A missense_variant T1008I 3023C>T UCEC-US 4 68488549 68488549 single base substitution G A splice_region_variant UCEC-US 4 68488921 68488921 single base substitution T C exon_variant UCEC-US 4 68488921 68488921 single base substitution T C missense_variant I954V 2860A>G UCEC-US 4 68488926 68488926 single base substitution A C exon_variant UCEC-US 4 68488926 68488926 single base substitution A C missense_variant F952C 2855T>G UCEC-US 4 68490818 68490818 single base substitution C T exon_variant UCEC-US 4 68490818 68490818 single base substitution C T missense_variant R869H 2606G>A UCEC-US 4 68490836 68490836 single base substitution G C exon_variant UCEC-US 4 68490836 68490836 single base substitution G C missense_variant T863R 2588C>G UCEC-US 4 68490841 68490841 single base substitution G T exon_variant UCEC-US 4 68490841 68490841 single base substitution G T missense_variant F861L 2583C>A UCEC-US 4 68497439 68497439 single base substitution A C missense_variant L239V 715T>G UCEC-US 4 68497439 68497439 single base substitution A C missense_variant L749V 2245T>G UCEC-US 4 68499130 68499130 deletion of <=200bp C - frameshift_variant R692 UCEC-US 4 68499130 68499130 deletion of <=200bp C - intron_variant UCEC-US 4 68500236 68500236 single base substitution G A missense_variant R148W 442C>T UCEC-US 4 68500236 68500236 single base substitution G A missense_variant R615W 1843C>T UCEC-US 4 68504796 68504796 single base substitution G T missense_variant S534Y 1601C>A UCEC-US 4 68504796 68504796 single base substitution G T missense_variant S67Y 200C>A UCEC-US 4 68514788 68514788 single base substitution A G missense_variant W416R 1246T>C UCEC-US 4 68514788 68514788 single base substitution A G upstream_gene_variant UCEC-US 4 68514815 68514815 single base substitution T C missense_variant T407A 1219A>G UCEC-US 4 68514815 68514815 single base substitution T C upstream_gene_variant UCEC-US 4 68514830 68514830 single base substitution C A missense_variant V402L 1204G>T UCEC-US 4 68514830 68514830 single base substitution C A upstream_gene_variant UCEC-US 4 68527865 68527865 single base substitution T C downstream_gene_variant UCEC-US 4 68527865 68527865 single base substitution T C intron_variant UCEC-US 4 68527865 68527865 single base substitution T C synonymous_variant L382L 1146A>G UCEC-US 4 68530940 68530940 single base substitution A G exon_variant UCEC-US 4 68530940 68530940 single base substitution A G synonymous_variant A288A 864T>C UCEC-US 4 68530962 68530962 single base substitution G T exon_variant UCEC-US 4 68530962 68530962 single base substitution G T missense_variant P281Q 842C>A UCEC-US 4 68534317 68534317 single base substitution C A exon_variant UCEC-US 4 68534317 68534317 single base substitution C A stop_gained E249* 745G>T UCEC-US 4 68534388 68534388 single base substitution T G exon_variant UCEC-US 4 68534388 68534388 single base substitution T G missense_variant N225T 674A>C UCEC-US 4 68536260 68536260 single base substitution G A exon_variant UCEC-US 4 68536260 68536260 single base substitution G A synonymous_variant F199F 597C>T UCEC-US 4 68539456 68539456 single base substitution T G downstream_gene_variant UCEC-US 4 68539456 68539456 single base substitution T G exon_variant UCEC-US 4 68539456 68539456 single base substitution T G missense_variant K169Q 505A>C UCEC-US 4 68543398 68543398 single base substitution G A downstream_gene_variant UCEC-US 4 68543398 68543398 single base substitution G A exon_variant UCEC-US 4 68543398 68543398 single base substitution G A synonymous_variant Y132Y 396C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0TJ-01 COSM1056733 c.2606G>A p.R869H Substitution - Missense 4:67625100-67625100 - TCGA-G2-A3VY-01 COSM3775933 c.823G>A p.D275N Substitution - Missense 4:67665263-67665263 - TCGA-EP-A2KB-01 COSM4921396 c.792G>T p.T264T Substitution - coding silent 4:67668552-67668552 - T3024 COSM4738597 c.523C>T p.R175C Substitution - Missense 4:67673720-67673720 - T3118 COSM4738596 c.830C>T p.T277I Substitution - Missense 4:67665256-67665256 - TCGA-A6-6141-01 COSM1430593 c.2852C>A p.S951* Substitution - Nonsense 4:67623211-67623211 - SH-0622 COSM5017325 c.897+1_897+2insT p.? Unknown 4:67665187-67665188 - LU-A08-43 COSM400371 c.316T>A p.F106I Substitution - Missense 4:67678476-67678476 - TCGA-HU-A4GU-01 COSM4125591 c.2637C>T p.D879D Substitution - coding silent 4:67625069-67625069 - YUVAIL COSM1694430 c.2275C>T p.Q759* Substitution - Nonsense 4:67630519-67630519 - TCGA-B5-A0JY-01 COSM1056739 c.1601C>A p.S534Y Substitution - Missense 4:67639078-67639078 - TCGA-AX-A063-01 COSM1056749 c.505A>C p.K169Q Substitution - Missense 4:67673738-67673738 - TCGA-F4-6854-01 COSM3696708 c.1251A>T p.L417F Substitution - Missense 4:67646789-67646789 - 61 COSM3303911 c.1844G>A p.R615Q Substitution - Missense 4:67634517-67634517 - CSCC-60-T COSM4473457 c.1850C>T p.P617L Substitution - Missense 4:67634511-67634511 - 254 COSM3731573 c.734T>A p.L245Q Substitution - Missense 4:67668610-67668610 - TCGA-BF-A1Q0-01 COSM3604990 c.49T>A p.C17S Substitution - Missense 4:67701071-67701071 - HN_62926 COSM130030 c.701A>G p.N234S Substitution - Missense 4:67668643-67668643 - TCGA-AP-A059-01 COSM1056741 c.1219A>G p.T407A Substitution - Missense 4:67649097-67649097 - STC263 COSM448037 c.665C>T p.T222M Substitution - Missense 4:67670474-67670474 - CHC1055T COSM251282 c.72-18_80del27 p.? Unknown 4:67696699-67696725 - MO_1074 COSM5547711 c.1084_1090delAGTGAAA p.S362fs*8 Deletion - Frameshift 4:67662203-67662209 - 631084 COSM324151 c.1969A>C p.N657H Substitution - Missense 4:67634286-67634286 - ESO-0015 COSM481414 c.1201G>A p.E401K Substitution - Missense 4:67649115-67649115 - TCGA-C5-A3HE-01 COSM4827948 c.1317-1G>C p.? Unknown 4:67646017-67646017 - HCT-15 COSM1671047 c.671C>T p.A224V Substitution - Missense 4:67668673-67668673 - 1428_T COSM3946511 c.3157T>G p.*1053E Nonstop extension 4:67618999-67618999 - 721LT COSM4383204 c.3049A>G p.T1017A Substitution - Missense 4:67619107-67619107 - TCGA-E9-A1ND-01 COSM1486050 c.2379G>C p.Q793H Substitution - Missense 4:67629092-67629092 - CSCC-27-T COSM4463981 c.1313C>T p.P438L Substitution - Missense 4:67646727-67646727 - 2334201 COSM324152 c.2944G>T p.E982* Substitution - Nonsense 4:67622910-67622910 - NB-2074 COSM1288795 c.1860G>T p.E620D Substitution - Missense 4:67634501-67634501 - HCC2998 COSM1430593 c.2852C>A p.S951* Substitution - Nonsense 4:67623211-67623211 - LOVO COSM3303941 c.780A>G p.I260M Substitution - Missense 4:67668564-67668564 - TCGA-A2-A0YD-01 COSM448036 c.929delA p.K310fs*14 Deletion - Frameshift 4:67663916-67663916 - CHC1738T COSM4805213 c.2850A>G p.I950M Substitution - Missense 4:67623213-67623213 - TCGA-D1-A17Q-01 COSM1056737 c.2075delG p.R692fs*9 Deletion - Frameshift 4:67633412-67633412 - cSCCP6 COSM136416 c.664A>G p.T222A Substitution - Missense 4:67670475-67670475 - T164 COSM307581 c.2149C>T p.Q717* Substitution - Nonsense 4:67631902-67631902 - TCGA-D1-A163-01 COSM1056734 c.2588C>G p.T863R Substitution - Missense 4:67625118-67625118 - 53M COSM5595528 c.1006C>T p.Q336* Substitution - Nonsense 4:67663170-67663170 - HCC39 COSM1618995 c.960G>A p.E320E Substitution - coding silent 4:67663885-67663885 - TCGA-60-2698-01 COSM734968 c.1087G>T p.E363* Substitution - Nonsense 4:67662206-67662206 - HN_62506 COSM130029 c.951C>A p.S317R Substitution - Missense 4:67663894-67663894 - TCGA-BR-8680-01 COSM4125593 c.2257T>G p.L753V Substitution - Missense 4:67631709-67631709 - SJHYPO046 COSM4775812 c.185C>T p.S62F Substitution - Missense 4:67682163-67682163 - TCGA-AR-A0TX-01 COSM448038 c.501G>C p.Q167H Substitution - Missense 4:67673742-67673742 - SNUH_G76_S1 COSM4419982 c.1908T>C p.H636H Substitution - coding silent 4:67634453-67634453 - CHEWS028 COSM3303917 c.1728C>T p.Y576Y Substitution - coding silent 4:67638951-67638951 - CSCC-31-T COSM4480103 c.238C>G p.L80V Substitution - Missense 4:67681583-67681583 - HCC2998 COSM3303928 c.1159T>G p.L387V Substitution - Missense 4:67649157-67649157 - ESCC_BICR_061T COSM734967 c.345G>C p.K115N Substitution - Missense 4:67678447-67678447 - TCGA-B5-A0JY-01 COSM1056742 c.1204G>T p.V402L Substitution - Missense 4:67649112-67649112 - YUBER COSM1694432 c.742C>T p.R248* Substitution - Nonsense 4:67668602-67668602 - EOPC-027_tumor_01 COSM5950785 c.932G>T p.C311F Substitution - Missense 4:67663913-67663913 - TCGA-B1-A47N-01 COSM4414346 c.723A>G p.T241T Substitution - coding silent 4:67668621-67668621 - TCGA-BR-4257-01 COSM4125592 c.2510C>T p.A837V Substitution - Missense 4:67626368-67626368 - TCGA-EE-A3AC-06 COSM3604988 c.447C>T p.S149S Substitution - coding silent 4:67677629-67677629 - TCGA-EL-A3GX-01 COSM3373534 c.1861G>C p.E621Q Substitution - Missense 4:67634500-67634500 - TCGA-AC-A3YI-01 COSM3826072 c.1852C>A p.P618T Substitution - Missense 4:67634509-67634509 - MD-047 COSM303502 c.2771G>A p.C924Y Substitution - Missense 4:67624195-67624195 - TCGA-EE-A3AF-06 COSM3604984 c.2791C>T p.P931S Substitution - Missense 4:67624175-67624175 - HX17T COSM1618997 c.228T>C p.I76I Substitution - coding silent 4:67682120-67682120 - T2 COSM5344736 c.2529G>A p.Q843Q Substitution - coding silent 4:67625177-67625177 - HCC41 COSM1618993 c.1514A>T p.N505I Substitution - Missense 4:67641191-67641191 - TCGA-AX-A0J0-01 COSM1056748 c.597C>T p.F199F Substitution - coding silent 4:67670542-67670542 - TCGA-AP-A051-01 COSM1056738 c.1843C>T p.R615W Substitution - Missense 4:67634518-67634518 - 2521262 COSM5891832 c.2712+7T>G p.? Unknown 4:67624987-67624987 - TCGA-CA-6718-01 COSM1430595 c.1812A>G p.V604V Substitution - coding silent 4:67635483-67635483 - TCGA-AD-6889-01 COSM1430597 c.1261G>T p.A421S Substitution - Missense 4:67646779-67646779 - ZZUFHECRKL-G051T COSM448037 c.665C>T p.T222M Substitution - Missense 4:67670474-67670474 - HCC2998 COSM1430593 c.2852C>A p.S951* Substitution - Nonsense 4:67623211-67623211 - T2769 COSM4738591 c.2712G>A p.L904L Substitution - coding silent 4:67624994-67624994 - TCGA-B5-A11E-01 COSM1056735 c.2583C>A p.F861L Substitution - Missense 4:67625123-67625123 - TCGA-AN-A0FF-01 COSM448037 c.665C>T p.T222M Substitution - Missense 4:67670474-67670474 - 49 COSM4778213 c.827C>T p.T276I Substitution - Missense 4:67665259-67665259 - TCGA-AP-A0LM-01 COSM1056747 c.674A>C p.N225T Substitution - Missense 4:67668670-67668670 - TCGA-36-2552-01 COSM1328445 c.1744T>A p.L582I Substitution - Missense 4:67635551-67635551 - LUAD-RT-S01700 COSM378776 c.1739G>C p.R580P Substitution - Missense 4:67635556-67635556 - ESO-1488 COSM1269606 c.63G>T p.G21G Substitution - coding silent 4:67701057-67701057 - SNUH_G76_S1 COSM4419933 c.2172G>T p.L724L Substitution - coding silent 4:67631879-67631879 - TCGA-FI-A2D2-01 COSM1056730 c.3023C>T p.T1008I Substitution - Missense 4:67622831-67622831 - TCGA-B0-5402-01 COSM481413 c.1798A>G p.T600A Substitution - Missense 4:67635497-67635497 - SC_9047 COSM5557543 c.2673A>G p.I891M Substitution - Missense 4:67625033-67625033 - C135 COSM4618435 c.1059A>C p.E353D Substitution - Missense 4:67662234-67662234 - SJOS001112_M2 COSM5023435 c.3119G>T p.G1040V Substitution - Missense 4:67619037-67619037 - CHC1055T COSM251282 c.72-18_80del27 p.? Unknown 4:67696699-67696725 - SNU-175 COSM3303895 c.2406T>C p.V802V Substitution - coding silent 4:67626472-67626472 - TCGA-AX-A0J0-01 COSM1056740 c.1246T>C p.W416R Substitution - Missense 4:67649070-67649070 - TCGA-BR-6452-01 COSM4125590 c.2652G>T p.K884N Substitution - Missense 4:67625054-67625054 - KPOPBR-60-T COSM5963694 c.2341G>C p.D781H Substitution - Missense 4:67629130-67629130 - CHC433T COSM4409170 c.960+5A>G p.? Unknown 4:67663880-67663880 - DU-145 COSM1671046 c.3149A>G p.D1050G Substitution - Missense 4:67619007-67619007 - MO_1012 COSM5547947 c.2143-7delT p.? Unknown 4:67631915-67631915 - CSCC-38-T COSM4478145 c.2213C>T p.P738L Substitution - Missense 4:67631753-67631753 - CHC1738T COSM4805213 c.2850A>G p.I950M Substitution - Missense 4:67623213-67623213 - LUAD-RT-S01699 COSM378410 c.3034C>G p.L1012V Substitution - Missense 4:67619122-67619122 - HCT15 COSM1671047 c.671C>T p.A224V Substitution - Missense 4:67668673-67668673 - HCC2998 COSM448037 c.665C>T p.T222M Substitution - Missense 4:67670474-67670474 - LS411 COSM3303910 c.1926A>G p.R642R Substitution - coding silent 4:67634435-67634435 - TCGA-32-4210-01 COSM3409409 c.463C>A p.Q155K Substitution - Missense 4:67677613-67677613 - MO_1040 COSM5556145 c.2741G>T p.G914V Substitution - Missense 4:67624225-67624225 - TCGA-CG-4465-01 COSM4125595 c.162A>G p.T54T Substitution - coding silent 4:67682186-67682186 - TCGA-F5-6814-01 COSM1694432 c.742C>T p.R248* Substitution - Nonsense 4:67668602-67668602 - MO_1410 COSM5573120 c.2329-2A>G p.? Unknown 4:67629144-67629144 - TCGA-AA-3558-01 COSM292478 c.2612A>C p.K871T Substitution - Missense 4:67625094-67625094 - TCGA-BR-6452-01 COSM4125589 c.2830A>G p.T944A Substitution - Missense 4:67624136-67624136 - TCGA-UB-A7MB-01 COSM4931619 c.1526A>G p.Q509R Substitution - Missense 4:67641179-67641179 - TCGA-AP-A0LM-01 COSM1056750 c.396C>T p.Y132Y Substitution - coding silent 4:67677680-67677680 - TCGA-ER-A19K-01 COSM3604986 c.1943C>T p.S648F Substitution - Missense 4:67634312-67634312 - PT55 COSM1694432 c.742C>T p.R248* Substitution - Nonsense 4:67668602-67668602 - SC_9081 COSM3728870 c.72-5delT p.? Unknown 4:67696712-67696712 - TCGA-F4-6856-01 COSM1430596 c.1739G>A p.R580H Substitution - Missense 4:67635556-67635556 - TCGA-ER-A193-06 COSM3604989 c.195C>T p.F65F Substitution - coding silent 4:67682153-67682153 - TCGA-OL-A5DA-01 COSM3826071 c.2463G>A p.E821E Substitution - coding silent 4:67626415-67626415 - 169 COSM3728870 c.72-5delT p.? Unknown 4:67696712-67696712 - YUZINO COSM1694431 c.1946T>A p.F649Y Substitution - Missense 4:67634309-67634309 - T3091 COSM4738592 c.2356A>T p.I786F Substitution - Missense 4:67629115-67629115 - 587222 COSM1231519 c.1232C>A p.S411Y Substitution - Missense 4:67649084-67649084 - S02376 COSM5697167 c.68G>T p.G23V Substitution - Missense 4:67701052-67701052 - Gp2D COSM3303913 c.1837A>G p.S613G Substitution - Missense 4:67635458-67635458 - TCGA-BP-4801-01 COSM481415 c.180C>T p.A60A Substitution - coding silent 4:67682168-67682168 - TCGA-D1-A161-01 COSM1056731 c.2860A>G p.I954V Substitution - Missense 4:67623203-67623203 - TCGA-DD-A3A5-01 COSM4938337 c.510C>G p.I170M Substitution - Missense 4:67673733-67673733 - TCGA-HU-A4G8-01 COSM1056748 c.597C>T p.F199F Substitution - coding silent 4:67670542-67670542 - TCGA-EE-A29E-06 COSM3604986 c.1943C>T p.S648F Substitution - Missense 4:67634312-67634312 - TCGA-AD-6964-01 COSM1430600 c.352A>G p.R118G Substitution - Missense 4:67678440-67678440 - TCGA-C8-A26Y-01 COSM3826073 c.1319G>A p.G440E Substitution - Missense 4:67646014-67646014 - Pat_41_B COSM5866620 c.2708G>A p.G903D Substitution - Missense 4:67624998-67624998 - HCC6 COSM1618996 c.287G>A p.C96Y Substitution - Missense 4:67678505-67678505 - HF-11782 COSM1192919 c.2330_2331insT p.S779fs*22 Insertion - Frameshift 4:67629140-67629141 - Gp5D COSM3303913 c.1837A>G p.S613G Substitution - Missense 4:67635458-67635458 - CLL097 COSM1291945 c.530A>T p.Q177L Substitution - Missense 4:67673713-67673713 - HCC39T COSM1618995 c.960G>A p.E320E Substitution - coding silent 4:67663885-67663885 - TCGA-BR-6852-01 COSM3303945 c.666G>A p.T222T Substitution - coding silent 4:67670473-67670473 - T3174 COSM4738590 c.2877C>T p.T959T Substitution - coding silent 4:67623186-67623186 - TCGA-FD-A3SQ-01 COSM3775932 c.1137C>T p.L379L Substitution - coding silent 4:67649179-67649179 - RKO COSM4648806 c.2682A>G p.I894M Substitution - Missense 4:67625024-67625024 - S01861 COSM5671353 c.2713-3T>C p.? Unknown 4:67624256-67624256 - 587376 COSM1231520 c.80A>C p.K27T Substitution - Missense 4:67696699-67696699 - AOCS-093-1-9 COSM4135849 c.71+2T>G p.? Unknown 4:67701047-67701047 - T3610 COSM1056750 c.396C>T p.Y132Y Substitution - coding silent 4:67677680-67677680 - ESO-1059 COSM1269605 c.2866G>T p.D956Y Substitution - Missense 4:67623197-67623197 - Pat_66_A COSM5866621 c.743G>A p.R248Q Substitution - Missense 4:67668601-67668601 - TCGA-BP-5175-01 COSM481414 c.1201G>A p.E401K Substitution - Missense 4:67649115-67649115 - MEL-Ma-Mel-48 COSM1167861 c.897_897+1insT p.E300fs*1 Unknown 4:67665188-67665189 - TCGA-AA-3510-01 COSM1430598 c.705T>C p.H235H Substitution - coding silent 4:67668639-67668639 - MedB-1 COSM5622094 c.3028C>T p.H1010Y Substitution - Missense 4:67619128-67619128 - TCGA-BW-A5NO-01 COSM4933236 c.2195-1G>T p.? Unknown 4:67631772-67631772 - HCT15 COSM3303939 c.795G>A p.V265V Substitution - coding silent 4:67665291-67665291 - HCC2998 COSM448037 c.665C>T p.T222M Substitution - Missense 4:67670474-67670474 - B79 COSM1753799 c.1053A>T p.S351S Substitution - coding silent 4:67662240-67662240 - TCGA-BS-A0UF-01 COSM1056746 c.745G>T p.E249* Substitution - Nonsense 4:67668599-67668599 - TCGA-B5-A11R-01 COSM1056745 c.842C>A p.P281Q Substitution - Missense 4:67665244-67665244 - T3724 COSM4738593 c.1583C>T p.A528V Substitution - Missense 4:67639096-67639096 - C086 COSM5541255 c.2271C>T p.F757F Substitution - coding silent 4:67630523-67630523 - TCGA-EE-A3AA-06 COSM3604985 c.1950C>T p.S650S Substitution - coding silent 4:67634305-67634305 - STC263 COSM5060426 c.1905A>G p.E635E Substitution - coding silent 4:67634456-67634456 - TCGA-B5-A0K7-01 COSM1056732 c.2855T>G p.F952C Substitution - Missense 4:67623208-67623208 - TCGA-BR-4361-01 COSM4125594 c.963A>G p.A321A Substitution - coding silent 4:67663213-67663213 - HCC41T COSM1618993 c.1514A>T p.N505I Substitution - Missense 4:67641191-67641191 - cSCCP7 COSM139522 c.1312C>T p.P438S Substitution - Missense 4:67646728-67646728 - TCGA-G3-A7M6-01 COSM4927614 c.394T>C p.Y132H Substitution - Missense 4:67677682-67677682 - TCGA-AA-A00N-01 COSM277980 c.2654G>A p.R885H Substitution - Missense 4:67625052-67625052 - HCC6T COSM1618996 c.287G>A p.C96Y Substitution - Missense 4:67678505-67678505 - T3080 COSM4738595 c.897delT p.F299fs*8 Deletion - Frameshift 4:67665189-67665189 - TCGA-IH-A3EA-01 COSM3604987 c.1886C>T p.S629F Substitution - Missense 4:67634475-67634475 - TCGA-BS-A0UF-01 COSM1056736 c.2245T>G p.L749V Substitution - Missense 4:67631721-67631721 - RK279_C01 COSM3702625 c.915G>T p.Q305H Substitution - Missense 4:67663930-67663930 - CSCC-56-T COSM4460656 c.1175C>T p.A392V Substitution - Missense 4:67649141-67649141 - PCSI_0890_Pa_P_526 COSM5762106 c.2744G>A p.G915D Substitution - Missense 4:67624222-67624222 - TCGA-B5-A11E-01 COSM1056744 c.864T>C p.A288A Substitution - coding silent 4:67665222-67665222 - TCGA-EW-A1IZ-01 COSM1486051 c.1022G>A p.R341H Substitution - Missense 4:67663154-67663154 - HCT15 COSM3303936 c.810T>C p.S270S Substitution - coding silent 4:67665276-67665276 - T3152 COSM4738595 c.897delT p.F299fs*8 Deletion - Frameshift 4:67665189-67665189 - T578 COSM4738594 c.1229T>G p.F410C Substitution - Missense 4:67649087-67649087 - B79-Tumor COSM1753799 c.1053A>T p.S351S Substitution - coding silent 4:67662240-67662240 - PT48 COSM5931566 c.2401-5C>T p.? Unknown 4:67626482-67626482 - ESCC_153 COSM5645747 c.1907A>G p.H636R Substitution - Missense 4:67634454-67634454 - HCC39T COSM1618994 c.960+1G>A p.? Unknown 4:67663884-67663884 - CHEWS011 COSM4585140 c.1900A>G p.I634V Substitution - Missense 4:67634461-67634461 - CHEWS024 COSM4585139 c.2700A>G p.T900T Substitution - coding silent 4:67625006-67625006 - 8016470 COSM277980 c.2654G>A p.R885H Substitution - Missense 4:67625052-67625052 - ESCC-148T COSM3940917 c.1325G>C p.R442T Substitution - Missense 4:67646008-67646008 - TCGA-60-2698-01 COSM734967 c.345G>C p.K115N Substitution - Missense 4:67678447-67678447 - 8065126 COSM4389865 c.1579G>A p.D527N Substitution - Missense 4:67639100-67639100 - HCC049T COSM5812063 c.1433A>T p.N478I Substitution - Missense 4:67644741-67644741 - STC263 COSM5060427 c.466-2A>G p.? Unknown 4:67673779-67673779 - LUAD-S01357 COSM387449 c.24C>T p.A8A Substitution - coding silent 4:67701096-67701096 - HCC39 COSM1618994 c.960+1G>A p.? Unknown 4:67663884-67663884 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743227 4q13.2 611361

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.3156+916delC 4 68483803 HC A C Missense p.F952C c.2855T>G 4 68488926 UCEC A G Missense p.V846A c.2537T>C 4 68490887 HNSC A T Missense p.C17S c.49T>A 4 68566789 CM C A Missense p.C347F c.1040G>T 4 68527971 LUAD C A Missense p.D956Y c.2866G>T 4 68488915 ESCA C A Missense p.E620D c.1860G>T 4 68500219 NB C A Missense p.K537N c.1611G>T 4 68504786 LUAD C A Nonsense p.E982* c.2944G>T 4 68488628 SCLC C A Synonymous p.G21G c.63G>T 4 68566775 ESCA C - Frameshift p.E1018Kfs*26 c.3052delG 4 68484822 LUAD C G Missense p.E621Q c.1861G>C 4 68500218 THCA C G Missense p.G989R c.2965G>C 4 68488607 LUAD C G Missense p.K672N c.2016G>C 4 68499189 LUAD C G Missense p.L607F c.1821G>C 4 68501192 LUAD C G Missense p.Q793H c.2379G>C 4 68494810 BRCA C G Missense p.R439P c.1316G>C 4 68512442 LUAD C T 3-UTRSNV . c.3156+127G>A 4 68484591 CM C T Missense p.E401K c.1201G>A 4 68514833 ESCA C T Missense p.E401K c.1201G>A 4 68514833 RCCC C T Missense p.G227D c.680G>A 4 68534382 LUAD C T Missense p.R694K c.2081G>A 4 68499124 CM C T Missense p.R869H c.2606G>A 4 68490818 UCEC C T Missense p.R885H c.2654G>A 4 68490770 HNSC C T Synonymous p.T222T c.666G>A 4 68536191 STAD G A 3-UTRSNV . c.3156+19C>T 4 68484699 ESCA G A Missense p.A837V c.2510C>T 4 68492086 STAD G A Missense p.H63Y c.187C>T 4 68547879 CM G A Missense p.L379F c.1135C>T 4 68514899 HNSC G A Missense p.P631S c.1891C>T 4 68500188 CM G A Missense p.P931S c.2791C>T 4 68489893 CM G A Missense p.S629F c.1886C>T 4 68500193 CM G A Missense p.S62F c.185C>T 4 68547881 ALL G A Missense p.S648F c.1943C>T 4 68500030 CM G A Missense p.T1008I c.3023C>T 4 68488549 UCEC G A Missense p.T222M c.665C>T 4 68536192 BRCA G A Synonymous p.A60A c.180C>T 4 68547886 RCCC G A Synonymous p.D333D c.999C>T 4 68528895 CM G A Synonymous p.F65F c.195C>T 4 68547871 CM G A Synonymous p.N505N c.1515C>T 4 68506908 LUAD G A Synonymous p.S149S c.447C>T 4 68543347 CM G A Synonymous p.S650S c.1950C>T 4 68500023 CM G C Missense p.S36C c.107C>G 4 68562390 LUAD G C Missense p.T863R c.2588C>G 4 68490836 UCEC G T Missense p.H1049N c.3145C>A 4 68484729 LUAD G T Missense p.P281Q c.842C>A 4 68530962 UCEC G T Missense p.Q155K c.463C>A 4 68543331 GBM G T Missense p.S317R c.951C>A 4 68529612 HNSC T A Missense p.Q177L c.530A>T 4 68539431 CLL T A Synonymous p.G857G c.2571A>T 4 68490853 LUAD T A Synonymous p.T136T c.408A>T 4 68543386 HNSC T C IntronicSNV . c.1104+42A>G 4 68527865 UCEC T C Missense p.D569G c.1706A>G 4 68504691 LUAD T C Missense p.H713R c.2138A>G 4 68499067 HNSC T C Missense p.I622V c.1864A>G 4 68500215 LUAD T C Missense p.I954V c.2860A>G 4 68488921 UCEC T C Missense p.N234S c.701A>G 4 68534361 HNSC T C Synonymous p.T54T c.162A>G 4 68547904 STAD T - Frameshift p.K310Sfs*14 c.929delA 4 68529634 BRCA - T Frameshift p.N318Kfs*3 c.953dupA 4 68529610 PRAD T G Missense p.E667A c.2000A>C 4 68499973 LUAD T G Missense p.K169Q c.505A>C 4 68539456 UCEC T G Missense p.K871T c.2612A>C 4 68490812 COREAD T G Missense p.N657H c.1969A>C 4 68500004 SCLC - T IntronicInsertion . c.794-122dupA 4 68531132 CM