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 23 30849617 30849617 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:30849617C>A c.2066G>T c.(2065-2067)tGt>tTt p.C689F ACC 23 30873289 30873289 + Missense_Mutation SNP T T C TCGA-OR-A5JX-01A-11D-A29I-10 TCGA-OR-A5JX-10B-01D-A29L-10 g.chrX:30873289T>C c.493A>G c.(493-495)Aca>Gca p.T165A BLCA 23 30852246 30852246 + Missense_Mutation SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chrX:30852246C>G c.1912G>C c.(1912-1914)Gag>Cag p.E638Q BLCA 23 30870918 30870918 + Missense_Mutation SNP T T A TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chrX:30870918T>A c.1687A>T c.(1687-1689)Agc>Tgc p.S563C BLCA 23 30872614 30872614 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chrX:30872614G>A c.1168C>T c.(1168-1170)Caa>Taa p.Q390* BLCA 23 30872793 30872793 + Missense_Mutation SNP G G C TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 g.chrX:30872793G>C c.989C>G c.(988-990)cCc>cGc p.P330R BLCA 23 30872938 30872938 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chrX:30872938G>T c.844C>A c.(844-846)Ccc>Acc p.P282T BLCA 23 30873150 30873150 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chrX:30873150C>G c.632G>C c.(631-633)aGa>aCa p.R211T BLCA 23 30873150 30873150 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chrX:30873150C>G c.632G>C c.(631-633)aGa>aCa p.R211T BLCA 23 30873254 30873254 + Silent SNP T T C TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chrX:30873254T>C c.528A>G c.(526-528)tcA>tcG p.S176S BLCA 23 30873457 30873457 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chrX:30873457G>A c.325C>T c.(325-327)Cct>Tct p.P109S BRCA 23 30872359 30872359 + Missense_Mutation SNP C C G TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chrX:30872359C>G c.1423G>C c.(1423-1425)Gag>Cag p.E475Q BRCA 23 30872398 30872398 + Missense_Mutation SNP C C T TCGA-D8-A1X6-01A-11D-A14K-09 TCGA-D8-A1X6-10A-01D-A14K-09 g.chrX:30872398C>T c.1384G>A c.(1384-1386)Gca>Aca p.A462T BRCA 23 30872538 30872538 + Frame_Shift_Del DEL G G - TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 g.chrX:30872538delG c.1244delC c.(1243-1245)tctfs p.S416fs BRCA 23 30873285 30873285 + Missense_Mutation SNP C C T TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chrX:30873285C>T c.497G>A c.(496-498)gGa>gAa p.G166E BRCA 23 30873310 30873310 + Nonsense_Mutation SNP G G A TCGA-D8-A4Z1-01A-21D-A25Q-09 TCGA-D8-A4Z1-10A-01D-A25Q-09 g.chrX:30873310G>A c.472C>T c.(472-474)Caa>Taa p.Q158* BRCA 23 30873374 30873374 + Silent SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 g.chrX:30873374G>A c.408C>T c.(406-408)aaC>aaT p.N136N BRCA 23 30873405 30873405 + Nonsense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 g.chrX:30873405G>T c.377C>A c.(376-378)tCa>tAa p.S126* BRCA 23 30873431 30873431 + Silent SNP C C T TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chrX:30873431C>T c.351G>A c.(349-351)ctG>ctA p.L117L BRCA 23 30877660 30877660 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 g.chrX:30877660G>C c.46C>G c.(46-48)Ctt>Gtt p.L16V CESC 23 30864732 30864732 + Missense_Mutation SNP C C G TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 g.chrX:30864732C>G c.1740G>C c.(1738-1740)atG>atC p.M580I CESC 23 30870896 30870896 + Splice_Site SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 g.chrX:30870896G>A c.1709C>T c.(1708-1710)aCg>aTg p.T570M CESC 23 30872356 30872356 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chrX:30872356G>A c.1426C>T c.(1426-1428)Cgc>Tgc p.R476C CESC 23 30872550 30872550 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chrX:30872550G>A c.1232C>T c.(1231-1233)tCa>tTa p.S411L CESC 23 30872913 30872913 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chrX:30872913G>A c.869C>T c.(868-870)tCt>tTt p.S290F CESC 23 30877610 30877610 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 g.chrX:30877610C>T c.96G>A c.(94-96)atG>atA p.M32I COAD 23 30852223 30852223 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chrX:30852223G>A c.1935C>T c.(1933-1935)agC>agT p.S645S COAD 23 30861134 30861134 + Frame_Shift_Del DEL A A - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:30861134delA c.1837delT c.(1837-1839)tatfs p.Y613fs COAD 23 30870905 30870905 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:30870905G>A c.1700C>T c.(1699-1701)gCg>gTg p.A567V COAD 23 30872751 30872751 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:30872751C>T c.1031G>A c.(1030-1032)gGa>gAa p.G344E COAD 23 30872961 30872961 + Missense_Mutation SNP T T C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:30872961T>C c.821A>G c.(820-822)aAc>aGc p.N274S COAD 23 30873032 30873032 + Nonsense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:30873032C>T c.750G>A c.(748-750)tgG>tgA p.W250* COAD 23 30873039 30873039 + Missense_Mutation SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chrX:30873039G>A c.743C>T c.(742-744)aCg>aTg p.T248M COAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COAD 23 30873485 30873485 + Silent SNP T T G TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chrX:30873485T>G c.297A>C c.(295-297)gtA>gtC p.V99V COAD 23 30877628 30877628 + Silent SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chrX:30877628G>A c.78C>T c.(76-78)ggC>ggT p.G26G COADREAD 23 30852223 30852223 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chrX:30852223G>A c.1935C>T c.(1933-1935)agC>agT p.S645S COADREAD 23 30861134 30861134 + Frame_Shift_Del DEL A A - TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chrX:30861134delA c.1837delT c.(1837-1839)tatfs p.Y613fs COADREAD 23 30864739 30864739 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:30864739C>A c.1733G>T c.(1732-1734)aGa>aTa p.R578I COADREAD 23 30870905 30870905 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:30870905G>A c.1700C>T c.(1699-1701)gCg>gTg p.A567V COADREAD 23 30872751 30872751 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chrX:30872751C>T c.1031G>A c.(1030-1032)gGa>gAa p.G344E COADREAD 23 30872751 30872751 + Missense_Mutation SNP C C T TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chrX:30872751C>T c.1031G>A c.(1030-1032)gGa>gAa p.G344E COADREAD 23 30872961 30872961 + Missense_Mutation SNP T T C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:30872961T>C c.821A>G c.(820-822)aAc>aGc p.N274S COADREAD 23 30873032 30873032 + Nonsense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:30873032C>T c.750G>A c.(748-750)tgG>tgA p.W250* COADREAD 23 30873039 30873039 + Missense_Mutation SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chrX:30873039G>A c.743C>T c.(742-744)aCg>aTg p.T248M COADREAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COADREAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COADREAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COADREAD 23 30873229 30873229 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chrX:30873229T>C c.553A>G c.(553-555)Atg>Gtg p.M185V COADREAD 23 30873485 30873485 + Silent SNP T T G TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chrX:30873485T>G c.297A>C c.(295-297)gtA>gtC p.V99V COADREAD 23 30877628 30877628 + Silent SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chrX:30877628G>A c.78C>T c.(76-78)ggC>ggT p.G26G COADREAD 23 30877657 30877657 + Nonsense_Mutation SNP G G A TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chrX:30877657G>A c.49C>T c.(49-51)Cga>Tga p.R17* DLBC 23 30873153 30873153 + Missense_Mutation SNP G G T TCGA-FA-A86F-01A-11D-A382-10 TCGA-FA-A86F-10A-01D-A385-10 g.chrX:30873153G>T c.629C>A c.(628-630)cCa>cAa p.P210Q ESCA 23 30873574 30873574 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chrX:30873574G>T c.208C>A c.(208-210)Cgc>Agc p.R70S ESCA 23 30873600 30873600 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chrX:30873600G>T c.182C>A c.(181-183)cCa>cAa p.P61Q GBM 23 30872355 30872355 + Missense_Mutation SNP C C T TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:30872355C>T c.1427G>A c.(1426-1428)cGc>cAc p.R476H GBMLGG 23 30872355 30872355 + Missense_Mutation SNP C C T TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:30872355C>T c.1427G>A c.(1426-1428)cGc>cAc p.R476H GBMLGG 23 30872594 30872594 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:30872594T>C c.1188A>G c.(1186-1188)caA>caG p.Q396Q GBMLGG 23 30873304 30873304 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chrX:30873304G>T c.478C>A c.(478-480)Cca>Aca p.P160T HNSC 23 30872591 30872591 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chrX:30872591G>A c.1191C>T c.(1189-1191)caC>caT p.H397H HNSC 23 30872655 30872655 + Missense_Mutation SNP G G T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:30872655G>T c.1127C>A c.(1126-1128)cCt>cAt p.P376H HNSC 23 30872791 30872791 + Missense_Mutation SNP G G A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chrX:30872791G>A c.991C>T c.(991-993)Cat>Tat p.H331Y HNSC 23 30873140 30873140 + Silent SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chrX:30873140T>C c.642A>G c.(640-642)caA>caG p.Q214Q HNSC 23 30873379 30873379 + Missense_Mutation SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chrX:30873379G>A c.403C>T c.(403-405)Ccc>Tcc p.P135S KIPAN 23 30849594 30849594 + Missense_Mutation SNP G G A TCGA-B8-4620-01A-02D-1386-10 TCGA-B8-4620-10A-01D-1251-10 g.chrX:30849594G>A c.2089C>T c.(2089-2091)Cac>Tac p.H697Y KIRC 23 30849594 30849594 + Missense_Mutation SNP G G A TCGA-B8-4620-01A-02D-1386-10 TCGA-B8-4620-10A-01D-1251-10 g.chrX:30849594G>A c.2089C>T c.(2089-2091)Cac>Tac p.H697Y LGG 23 30872594 30872594 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:30872594T>C c.1188A>G c.(1186-1188)caA>caG p.Q396Q LGG 23 30873304 30873304 + Missense_Mutation SNP G G T TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chrX:30873304G>T c.478C>A c.(478-480)Cca>Aca p.P160T LIHC 23 30864763 30864763 + Splice_Site SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chrX:30864763T>C c.e5-2 LIHC 23 30871043 30871043 + Missense_Mutation SNP T T C TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chrX:30871043T>C c.1562A>G c.(1561-1563)cAt>cGt p.H521R LIHC 23 30873586 30873586 + Missense_Mutation SNP T T A TCGA-ZP-A9D0-01A-11D-A36X-10 TCGA-ZP-A9D0-10A-01D-A370-10 g.chrX:30873586T>A c.196A>T c.(196-198)Atg>Ttg p.M66L LUAD 23 30849675 30849675 + Missense_Mutation SNP T T A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:30849675T>A c.2008A>T c.(2008-2010)Aca>Tca p.T670S LUAD 23 30852176 30852176 + Missense_Mutation SNP G G T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chrX:30852176G>T c.1982C>A c.(1981-1983)gCt>gAt p.A661D LUAD 23 30864760 30864760 + Splice_Site SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chrX:30864760G>T c.1712C>A c.(1711-1713)cCt>cAt p.P571H LUAD 23 30872241 30872241 + Missense_Mutation SNP T T C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chrX:30872241T>C c.1541A>G c.(1540-1542)tAc>tGc p.Y514C LUAD 23 30872883 30872883 + Missense_Mutation SNP C C A TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chrX:30872883C>A c.899G>T c.(898-900)tGt>tTt p.C300F LUAD 23 30873050 30873050 + Silent SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chrX:30873050A>G c.732T>C c.(730-732)acT>acC p.T244T LUAD 23 30873434 30873434 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chrX:30873434C>A c.348G>T c.(346-348)caG>caT p.Q116H LUAD 23 30873435 30873435 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chrX:30873435T>C c.347A>G c.(346-348)cAg>cGg p.Q116R LUAD 23 30873637 30873637 + Nonsense_Mutation SNP C C A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chrX:30873637C>A c.145G>T c.(145-147)Gag>Tag p.E49* LUAD 23 30877604 30877604 + Splice_Site SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 g.chrX:30877604C>A c.102G>T c.(100-102)caG>caT p.Q34H LUSC 23 30849553 30849553 + Silent SNP C C T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chrX:30849553C>T c.2130G>A c.(2128-2130)cgG>cgA p.R710R LUSC 23 30872797 30872797 + Missense_Mutation SNP G G T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chrX:30872797G>T c.985C>A c.(985-987)Cca>Aca p.P329T LUSC 23 30872850 30872850 + Missense_Mutation SNP A A G TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chrX:30872850A>G c.932T>C c.(931-933)gTg>gCg p.V311A LUSC 23 30873081 30873081 + Missense_Mutation SNP T T C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chrX:30873081T>C c.701A>G c.(700-702)cAg>cGg p.Q234R LUSC 23 30873249 30873249 + Missense_Mutation SNP G G T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chrX:30873249G>T c.533C>A c.(532-534)cCa>cAa p.P178Q LUSC 23 30873661 30873661 + Missense_Mutation SNP C C T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chrX:30873661C>T c.121G>A c.(121-123)Gcc>Acc p.A41T OV 23 30873227 30873227 + Missense_Mutation SNP C C T TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 g.chrX:30873227C>T c.555G>A c.(553-555)atG>atA p.M185I OV 23 30873557 30873557 + Missense_Mutation SNP G G T TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 g.chrX:30873557G>T c.225C>A c.(223-225)aaC>aaA p.N75K PAAD 23 30872954 30872954 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:30872954C>A c.828G>T c.(826-828)caG>caT p.Q276H PCPG 23 30872733 30872733 + Missense_Mutation SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 g.chrX:30872733T>C c.1049A>G c.(1048-1050)tAt>tGt p.Y350C PCPG 23 30873680 30873680 + Splice_Site SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 g.chrX:30873680C>A c.e3-1 PCPG 23 30877655 30877655 + Silent SNP T T C TCGA-RT-A6YA-01A-12D-A35D-08 TCGA-RT-A6YA-10B-01D-A35B-08 g.chrX:30877655T>C c.51A>G c.(49-51)cgA>cgG p.R17R READ 23 30864739 30864739 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:30864739C>A c.1733G>T c.(1732-1734)aGa>aTa p.R578I READ 23 30872751 30872751 + Missense_Mutation SNP C C T TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chrX:30872751C>T c.1031G>A c.(1030-1032)gGa>gAa p.G344E READ 23 30877657 30877657 + Nonsense_Mutation SNP G G A TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chrX:30877657G>A c.49C>T c.(49-51)Cga>Tga p.R17* SKCM 23 30849651 30849651 + Nonsense_Mutation SNP G G A TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chrX:30849651G>A c.2032C>T c.(2032-2034)Cga>Tga p.R678*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 30870918 30870918 single base substitution T A exon_variant BLCA-US X 30870918 30870918 single base substitution T A missense_variant S14C 40A>T BLCA-US X 30870918 30870918 single base substitution T A missense_variant S563C 1687A>T BLCA-US X 30872614 30872614 single base substitution G A exon_variant BLCA-US X 30872614 30872614 single base substitution G A stop_gained Q390* 1168C>T BLCA-US X 30872614 30872614 single base substitution G A upstream_gene_variant BLCA-US X 30872793 30872793 single base substitution G C exon_variant BLCA-US X 30872793 30872793 single base substitution G C missense_variant P330R 989C>G BLCA-US X 30872793 30872793 single base substitution G C upstream_gene_variant BLCA-US X 30873150 30873150 single base substitution C G exon_variant BLCA-US X 30873150 30873150 single base substitution C G missense_variant R211T 632G>C BLCA-US X 30873150 30873150 single base substitution C G upstream_gene_variant BLCA-US X 30873457 30873457 single base substitution G A exon_variant BLCA-US X 30873457 30873457 single base substitution G A missense_variant P109S 325C>T BLCA-US X 30873457 30873457 single base substitution G A upstream_gene_variant BOCA-FR X 30922331 30922331 single base substitution T A intron_variant BOCA-FR X 30962203 30962203 single base substitution G A intron_variant BOCA-UK X 30873245 30873245 single base substitution C T exon_variant BOCA-UK X 30873245 30873245 single base substitution C T synonymous_variant P179P 537G>A BOCA-UK X 30873245 30873245 single base substitution C T upstream_gene_variant BRCA-EU X 30841780 30841780 single base substitution T C downstream_gene_variant BRCA-EU X 30841844 30841844 single base substitution G C downstream_gene_variant BRCA-EU X 30843810 30843810 single base substitution C T downstream_gene_variant BRCA-EU X 30843875 30843875 single base substitution T C downstream_gene_variant BRCA-EU X 30844244 30844244 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 30845607 30845607 single base substitution G A 3_prime_UTR_variant BRCA-EU X 30845607 30845607 single base substitution G A downstream_gene_variant BRCA-EU X 30845701 30845701 single base substitution A T 3_prime_UTR_variant BRCA-EU X 30845701 30845701 single base substitution A T downstream_gene_variant BRCA-EU X 30847993 30847993 single base substitution G C 3_prime_UTR_variant BRCA-EU X 30847993 30847993 single base substitution G C downstream_gene_variant BRCA-EU X 30849121 30849121 single base substitution G C 3_prime_UTR_variant BRCA-EU X 30849121 30849121 single base substitution G C downstream_gene_variant BRCA-EU X 30849654 30849654 single base substitution G C downstream_gene_variant BRCA-EU X 30849654 30849654 single base substitution G C missense_variant P649A 1945C>G BRCA-EU X 30849654 30849654 single base substitution G C missense_variant P677A 2029C>G BRCA-EU X 30850669 30850669 single base substitution C T downstream_gene_variant BRCA-EU X 30850669 30850669 single base substitution C T intron_variant BRCA-EU X 30853875 30853875 single base substitution T A 3_prime_UTR_variant BRCA-EU X 30853875 30853875 single base substitution T A intron_variant BRCA-EU X 30854659 30854659 single base substitution C A 3_prime_UTR_variant BRCA-EU X 30854659 30854659 single base substitution C A intron_variant BRCA-EU X 30854882 30854882 single base substitution C T 3_prime_UTR_variant BRCA-EU X 30854882 30854882 single base substitution C T intron_variant BRCA-EU X 30854983 30854983 single base substitution T C intron_variant BRCA-EU X 30855280 30855280 single base substitution C T intron_variant BRCA-EU X 30855290 30855290 single base substitution C A intron_variant BRCA-EU X 30855320 30855320 single base substitution C T intron_variant BRCA-EU X 30855795 30855795 single base substitution A G intron_variant BRCA-EU X 30856104 30856104 insertion of <=200bp - G intron_variant BRCA-EU X 30856225 30856225 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 30856225 30856225 insertion of <=200bp - T intron_variant BRCA-EU X 30856914 30856914 single base substitution G C downstream_gene_variant BRCA-EU X 30856914 30856914 single base substitution G C intron_variant BRCA-EU X 30856948 30856948 single base substitution A T downstream_gene_variant BRCA-EU X 30856948 30856948 single base substitution A T intron_variant BRCA-EU X 30857846 30857846 single base substitution G C downstream_gene_variant BRCA-EU X 30857846 30857846 single base substitution G C intron_variant BRCA-EU X 30857860 30857860 single base substitution G C downstream_gene_variant BRCA-EU X 30857860 30857860 single base substitution G C intron_variant BRCA-EU X 30859683 30859683 single base substitution A G downstream_gene_variant BRCA-EU X 30859683 30859683 single base substitution A G intron_variant BRCA-EU X 30860488 30860488 single base substitution C A downstream_gene_variant BRCA-EU X 30860488 30860488 single base substitution C A intron_variant BRCA-EU X 30860595 30860595 single base substitution G A downstream_gene_variant BRCA-EU X 30860595 30860595 single base substitution G A intron_variant BRCA-EU X 30860601 30860601 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 30860601 30860601 insertion of <=200bp - A intron_variant BRCA-EU X 30861039 30861039 single base substitution T C downstream_gene_variant BRCA-EU X 30861039 30861039 single base substitution T C intron_variant BRCA-EU X 30861223 30861223 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU X 30861223 30861223 deletion of <=200bp T - intron_variant BRCA-EU X 30861386 30861386 single base substitution T C 3_prime_UTR_variant BRCA-EU X 30861386 30861386 single base substitution T C intron_variant BRCA-EU X 30862920 30862920 single base substitution C A 3_prime_UTR_variant BRCA-EU X 30862920 30862920 single base substitution C A intron_variant BRCA-EU X 30862997 30862997 single base substitution G A 3_prime_UTR_variant BRCA-EU X 30862997 30862997 single base substitution G A intron_variant BRCA-EU X 30864193 30864193 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU X 30864193 30864193 deletion of <=200bp A - intron_variant BRCA-EU X 30864193 30864193 deletion of <=200bp A - splice_region_variant BRCA-EU X 30866439 30866439 single base substitution G C intron_variant BRCA-EU X 30866768 30866768 single base substitution G A intron_variant BRCA-EU X 30866769 30866769 deletion of <=200bp A - intron_variant BRCA-EU X 30866930 30866930 single base substitution G C intron_variant BRCA-EU X 30867008 30867008 single base substitution G T intron_variant BRCA-EU X 30867308 30867308 single base substitution T C intron_variant BRCA-EU X 30868310 30868310 single base substitution C G intron_variant BRCA-EU X 30868813 30868813 single base substitution G T intron_variant BRCA-EU X 30869007 30869007 single base substitution G T intron_variant BRCA-EU X 30869813 30869813 single base substitution A C intron_variant BRCA-EU X 30869837 30869837 single base substitution T A intron_variant BRCA-EU X 30869875 30869875 single base substitution G T intron_variant BRCA-EU X 30869876 30869876 single base substitution G T intron_variant BRCA-EU X 30870767 30870767 single base substitution A G intron_variant BRCA-EU X 30870800 30870800 single base substitution C T intron_variant BRCA-EU X 30872322 30872322 single base substitution G A exon_variant BRCA-EU X 30872322 30872322 single base substitution G A missense_variant S487L 1460C>T BRCA-EU X 30872322 30872322 single base substitution G A upstream_gene_variant BRCA-EU X 30872441 30872441 single base substitution C T exon_variant BRCA-EU X 30872441 30872441 single base substitution C T synonymous_variant V447V 1341G>A BRCA-EU X 30872441 30872441 single base substitution C T upstream_gene_variant BRCA-EU X 30872473 30872473 single base substitution G T exon_variant BRCA-EU X 30872473 30872473 single base substitution G T missense_variant P437T 1309C>A BRCA-EU X 30872473 30872473 single base substitution G T upstream_gene_variant BRCA-EU X 30872848 30872848 single base substitution G T exon_variant BRCA-EU X 30872848 30872848 single base substitution G T missense_variant Q312K 934C>A BRCA-EU X 30872848 30872848 single base substitution G T upstream_gene_variant BRCA-EU X 30873004 30873004 single base substitution G A exon_variant BRCA-EU X 30873004 30873004 single base substitution G A missense_variant H260Y 778C>T BRCA-EU X 30873004 30873004 single base substitution G A upstream_gene_variant BRCA-EU X 30873321 30873321 single base substitution G T exon_variant BRCA-EU X 30873321 30873321 single base substitution G T stop_gained S154* 461C>A BRCA-EU X 30873321 30873321 single base substitution G T upstream_gene_variant BRCA-EU X 30873951 30873951 single base substitution C G intron_variant BRCA-EU X 30873951 30873951 single base substitution C G upstream_gene_variant BRCA-EU X 30875104 30875104 deletion of <=200bp A - intron_variant BRCA-EU X 30875104 30875104 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 30875335 30875335 deletion of <=200bp A - intron_variant BRCA-EU X 30875335 30875335 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 30877331 30877331 single base substitution T C intron_variant BRCA-EU X 30878204 30878204 single base substitution C A intron_variant BRCA-EU X 30878204 30878204 single base substitution C A upstream_gene_variant BRCA-EU X 30880149 30880149 single base substitution A T intron_variant BRCA-EU X 30880149 30880149 single base substitution A T upstream_gene_variant BRCA-EU X 30880360 30880360 single base substitution T C intron_variant BRCA-EU X 30880360 30880360 single base substitution T C upstream_gene_variant BRCA-EU X 30880570 30880570 single base substitution G C intron_variant BRCA-EU X 30880570 30880570 single base substitution G C upstream_gene_variant BRCA-EU X 30880980 30880980 single base substitution C T intron_variant BRCA-EU X 30880980 30880980 single base substitution C T upstream_gene_variant BRCA-EU X 30881108 30881108 single base substitution A T intron_variant BRCA-EU X 30881108 30881108 single base substitution A T upstream_gene_variant BRCA-EU X 30881457 30881457 single base substitution C T intron_variant BRCA-EU X 30881457 30881457 single base substitution C T upstream_gene_variant BRCA-EU X 30882894 30882894 single base substitution G T intron_variant BRCA-EU X 30886198 30886198 single base substitution G C intron_variant BRCA-EU X 30886198 30886198 single base substitution G C upstream_gene_variant BRCA-EU X 30887407 30887407 single base substitution C A intron_variant BRCA-EU X 30887407 30887407 single base substitution C A upstream_gene_variant BRCA-EU X 30887823 30887823 single base substitution G C intron_variant BRCA-EU X 30887823 30887823 single base substitution G C upstream_gene_variant BRCA-EU X 30888347 30888347 single base substitution A G intron_variant BRCA-EU X 30888347 30888347 single base substitution A G upstream_gene_variant BRCA-EU X 30888580 30888580 single base substitution G T intron_variant BRCA-EU X 30888580 30888580 single base substitution G T upstream_gene_variant BRCA-EU X 30888852 30888852 deletion of <=200bp T - intron_variant BRCA-EU X 30888852 30888852 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 30890821 30890821 single base substitution A G intron_variant BRCA-EU X 30890821 30890821 single base substitution A G upstream_gene_variant BRCA-EU X 30891066 30891066 single base substitution G T intron_variant BRCA-EU X 30891066 30891066 single base substitution G T upstream_gene_variant BRCA-EU X 30892755 30892755 single base substitution G A intron_variant BRCA-EU X 30892755 30892755 single base substitution G A upstream_gene_variant BRCA-EU X 30892829 30892829 single base substitution C T intron_variant BRCA-EU X 30892829 30892829 single base substitution C T upstream_gene_variant BRCA-EU X 30892891 30892891 single base substitution T C intron_variant BRCA-EU X 30892891 30892891 single base substitution T C upstream_gene_variant BRCA-EU X 30893308 30893308 single base substitution G C intron_variant BRCA-EU X 30893308 30893308 single base substitution G C upstream_gene_variant BRCA-EU X 30893458 30893458 single base substitution T C intron_variant BRCA-EU X 30893458 30893458 single base substitution T C upstream_gene_variant BRCA-EU X 30893769 30893769 single base substitution C G intron_variant BRCA-EU X 30893769 30893769 single base substitution C G upstream_gene_variant BRCA-EU X 30894567 30894567 single base substitution G A intron_variant BRCA-EU X 30894567 30894567 single base substitution G A upstream_gene_variant BRCA-EU X 30894756 30894756 single base substitution G A intron_variant BRCA-EU X 30894756 30894756 single base substitution G A upstream_gene_variant BRCA-EU X 30894837 30894837 single base substitution G T intron_variant BRCA-EU X 30894837 30894837 single base substitution G T upstream_gene_variant BRCA-EU X 30895823 30895823 single base substitution A G intron_variant BRCA-EU X 30896491 30896491 single base substitution C T intron_variant BRCA-EU X 30896585 30896585 single base substitution C A intron_variant BRCA-EU X 30897146 30897146 single base substitution C G intron_variant BRCA-EU X 30898315 30898315 single base substitution G A intron_variant BRCA-EU X 30899280 30899280 single base substitution T A intron_variant BRCA-EU X 30899837 30899837 single base substitution C T intron_variant BRCA-EU X 30900027 30900027 single base substitution C T intron_variant BRCA-EU X 30900219 30900219 single base substitution G A intron_variant BRCA-EU X 30902410 30902410 single base substitution C A intron_variant BRCA-EU X 30902896 30902896 single base substitution C T intron_variant BRCA-EU X 30902983 30902983 single base substitution G A intron_variant BRCA-EU X 30903038 30903038 single base substitution G A intron_variant BRCA-EU X 30903201 30903201 single base substitution G T intron_variant BRCA-EU X 30903250 30903250 single base substitution A T intron_variant BRCA-EU X 30904009 30904009 single base substitution G A intron_variant BRCA-EU X 30905434 30905434 single base substitution A G intron_variant BRCA-EU X 30905986 30905986 single base substitution G T intron_variant BRCA-EU X 30906028 30906028 single base substitution C T intron_variant BRCA-EU X 30906125 30906125 single base substitution A T intron_variant BRCA-EU X 30906424 30906424 single base substitution C A intron_variant BRCA-EU X 30907129 30907129 single base substitution G A intron_variant BRCA-EU X 30907184 30907184 single base substitution C T intron_variant BRCA-EU X 30907471 30907471 single base substitution G A intron_variant BRCA-EU X 30907508 30907508 single base substitution C A intron_variant BRCA-EU X 30908244 30908244 single base substitution A G intron_variant BRCA-EU X 30909049 30909049 single base substitution G T intron_variant BRCA-EU X 30910287 30910287 single base substitution C G intron_variant BRCA-EU X 30910474 30910474 single base substitution G T intron_variant BRCA-EU X 30910739 30910739 single base substitution C T intron_variant BRCA-EU X 30911589 30911589 single base substitution G C intron_variant BRCA-EU X 30912108 30912108 single base substitution C T intron_variant BRCA-EU X 30912265 30912265 single base substitution G C intron_variant BRCA-EU X 30912345 30912345 single base substitution G T intron_variant BRCA-EU X 30912771 30912771 single base substitution G A intron_variant BRCA-EU X 30914487 30914487 single base substitution C T intron_variant BRCA-EU X 30914654 30914654 single base substitution G T intron_variant BRCA-EU X 30915054 30915054 single base substitution A T intron_variant BRCA-EU X 30915694 30915694 single base substitution T C intron_variant BRCA-EU X 30915748 30915748 single base substitution G C intron_variant BRCA-EU X 30915843 30915843 single base substitution C T intron_variant BRCA-EU X 30916112 30916112 single base substitution C G intron_variant BRCA-EU X 30917885 30917885 single base substitution C T intron_variant BRCA-EU X 30918297 30918297 single base substitution C T intron_variant BRCA-EU X 30918674 30918674 single base substitution C T intron_variant BRCA-EU X 30918694 30918694 single base substitution C A intron_variant BRCA-EU X 30918970 30918970 insertion of <=200bp - A intron_variant BRCA-EU X 30920680 30920680 single base substitution G A intron_variant BRCA-EU X 30920816 30920816 single base substitution A G intron_variant BRCA-EU X 30920998 30920998 single base substitution T C intron_variant BRCA-EU X 30921250 30921250 single base substitution G A intron_variant BRCA-EU X 30921649 30921649 single base substitution A G intron_variant BRCA-EU X 30923141 30923141 single base substitution C A intron_variant BRCA-EU X 30923443 30923443 insertion of <=200bp - TA intron_variant BRCA-EU X 30923776 30923776 single base substitution T A intron_variant BRCA-EU X 30924288 30924288 single base substitution G A intron_variant BRCA-EU X 30924747 30924747 single base substitution G T intron_variant BRCA-EU X 30925185 30925185 single base substitution C T intron_variant BRCA-EU X 30925194 30925194 single base substitution C T intron_variant BRCA-EU X 30925374 30925374 single base substitution G A intron_variant BRCA-EU X 30925545 30925545 single base substitution A G intron_variant BRCA-EU X 30926417 30926417 single base substitution A G intron_variant BRCA-EU X 30926692 30926692 single base substitution C A intron_variant BRCA-EU X 30927612 30927612 single base substitution C T intron_variant BRCA-EU X 30928063 30928063 single base substitution G A intron_variant BRCA-EU X 30929393 30929393 single base substitution C T intron_variant BRCA-EU X 30929676 30929676 single base substitution G A intron_variant BRCA-EU X 30931021 30931021 single base substitution G T intron_variant BRCA-EU X 30931203 30931203 single base substitution C A intron_variant BRCA-EU X 30931323 30931323 single base substitution G T intron_variant BRCA-EU X 30931962 30931962 single base substitution G A intron_variant BRCA-EU X 30933681 30933681 single base substitution C A intron_variant BRCA-EU X 30933745 30933745 single base substitution G A intron_variant BRCA-EU X 30933807 30933807 single base substitution G C intron_variant BRCA-EU X 30933943 30933943 single base substitution C A intron_variant BRCA-EU X 30933976 30933976 single base substitution A G intron_variant BRCA-EU X 30936031 30936031 single base substitution T C intron_variant BRCA-EU X 30937561 30937561 single base substitution G A intron_variant BRCA-EU X 30938480 30938480 single base substitution C T intron_variant BRCA-EU X 30938748 30938748 single base substitution C T intron_variant BRCA-EU X 30938959 30938959 deletion of <=200bp T - intron_variant BRCA-EU X 30939511 30939511 single base substitution G T intron_variant BRCA-EU X 30940266 30940266 single base substitution G T intron_variant BRCA-EU X 30940605 30940605 single base substitution G A intron_variant BRCA-EU X 30940819 30940819 single base substitution T A intron_variant BRCA-EU X 30940824 30940824 single base substitution A G intron_variant BRCA-EU X 30941084 30941084 single base substitution G A intron_variant BRCA-EU X 30941146 30941146 single base substitution C G intron_variant BRCA-EU X 30941477 30941477 single base substitution C T intron_variant BRCA-EU X 30942017 30942017 single base substitution G T intron_variant BRCA-EU X 30942452 30942452 deletion of <=200bp T - intron_variant BRCA-EU X 30942725 30942725 single base substitution G A intron_variant BRCA-EU X 30942822 30942822 single base substitution T C intron_variant BRCA-EU X 30942823 30942823 single base substitution G T intron_variant BRCA-EU X 30944278 30944278 single base substitution A T intron_variant BRCA-EU X 30945096 30945096 single base substitution C T intron_variant BRCA-EU X 30945234 30945234 single base substitution A G intron_variant BRCA-EU X 30945661 30945661 single base substitution A T intron_variant BRCA-EU X 30945708 30945708 single base substitution G A intron_variant BRCA-EU X 30945873 30945873 single base substitution C T intron_variant BRCA-EU X 30947632 30947632 insertion of <=200bp - TA intron_variant BRCA-EU X 30947654 30947654 single base substitution G T intron_variant BRCA-EU X 30947923 30947923 single base substitution G T intron_variant BRCA-EU X 30948148 30948148 single base substitution A G intron_variant BRCA-EU X 30948569 30948569 single base substitution G A intron_variant BRCA-EU X 30949461 30949461 single base substitution T A intron_variant BRCA-EU X 30950387 30950387 single base substitution A T intron_variant BRCA-EU X 30950469 30950469 single base substitution T G intron_variant BRCA-EU X 30950727 30950727 single base substitution A G intron_variant BRCA-EU X 30951700 30951700 single base substitution G A intron_variant BRCA-EU X 30951751 30951751 single base substitution C G intron_variant BRCA-EU X 30951776 30951776 single base substitution G A intron_variant BRCA-EU X 30952196 30952196 single base substitution C G intron_variant BRCA-EU X 30952204 30952204 single base substitution C G intron_variant BRCA-EU X 30952660 30952660 single base substitution C G intron_variant BRCA-EU X 30953047 30953047 single base substitution C A intron_variant BRCA-EU X 30953266 30953266 single base substitution A C intron_variant BRCA-EU X 30953688 30953688 single base substitution G C intron_variant BRCA-EU X 30954703 30954703 single base substitution G A intron_variant BRCA-EU X 30955419 30955419 single base substitution T A intron_variant BRCA-EU X 30955659 30955659 single base substitution C T intron_variant BRCA-EU X 30956489 30956489 single base substitution C G intron_variant BRCA-EU X 30956901 30956901 single base substitution G A intron_variant BRCA-EU X 30957574 30957574 single base substitution G A intron_variant BRCA-EU X 30958553 30958553 single base substitution T C intron_variant BRCA-EU X 30958715 30958715 single base substitution A T intron_variant BRCA-EU X 30959069 30959069 deletion of <=200bp T - intron_variant BRCA-EU X 30959184 30959184 single base substitution T C intron_variant BRCA-EU X 30959581 30959581 single base substitution T A intron_variant BRCA-EU X 30959592 30959592 single base substitution A G intron_variant BRCA-EU X 30960117 30960117 single base substitution T A intron_variant BRCA-EU X 30960964 30960964 single base substitution A G intron_variant BRCA-EU X 30961122 30961122 single base substitution C T intron_variant BRCA-EU X 30961831 30961831 single base substitution C T intron_variant BRCA-EU X 30962242 30962242 single base substitution C G intron_variant BRCA-EU X 30963328 30963328 single base substitution A G intron_variant BRCA-EU X 30964426 30964426 single base substitution T C intron_variant BRCA-EU X 30964565 30964565 single base substitution G C intron_variant BRCA-EU X 30964676 30964676 single base substitution T G intron_variant BRCA-EU X 30967369 30967369 single base substitution C T intron_variant BRCA-EU X 30968263 30968263 single base substitution G T intron_variant BRCA-EU X 30968712 30968716 deletion of <=200bp GCATT - intron_variant BRCA-EU X 30969813 30969813 single base substitution A G intron_variant BRCA-EU X 30971743 30971743 single base substitution T A intron_variant BRCA-EU X 30972199 30972199 single base substitution C T intron_variant BRCA-EU X 30972216 30972216 single base substitution G T intron_variant BRCA-EU X 30975368 30975368 single base substitution C T intron_variant BRCA-EU X 30975633 30975633 single base substitution T G intron_variant BRCA-EU X 30976735 30976735 single base substitution G C intron_variant BRCA-EU X 30978014 30978014 single base substitution T C intron_variant BRCA-EU X 30978191 30978191 single base substitution G A intron_variant BRCA-EU X 30978307 30978307 single base substitution C T intron_variant BRCA-EU X 30978311 30978311 single base substitution G A intron_variant BRCA-EU X 30979544 30979544 single base substitution C A intron_variant BRCA-EU X 30979677 30979677 single base substitution G T intron_variant BRCA-EU X 30979869 30979869 single base substitution A C intron_variant BRCA-EU X 30980230 30980230 insertion of <=200bp - T intron_variant BRCA-EU X 30980915 30980915 single base substitution C G intron_variant BRCA-EU X 30981077 30981077 single base substitution G T intron_variant BRCA-EU X 30983520 30983520 single base substitution G A intron_variant BRCA-EU X 30983852 30983852 single base substitution T C intron_variant BRCA-EU X 30984092 30984092 single base substitution C T intron_variant BRCA-EU X 30985515 30985515 single base substitution G C intron_variant BRCA-EU X 30985599 30985599 single base substitution C T intron_variant BRCA-EU X 30987962 30987962 single base substitution A G intron_variant BRCA-EU X 30988576 30988576 single base substitution C G intron_variant BRCA-EU X 30990613 30990613 single base substitution T A intron_variant BRCA-EU X 30990616 30990616 single base substitution T G intron_variant BRCA-EU X 30991033 30991033 single base substitution C T intron_variant BRCA-EU X 30991662 30991663 deletion of <=200bp AC - intron_variant BRCA-EU X 30991754 30991754 single base substitution G A intron_variant BRCA-EU X 30992359 30992359 single base substitution G A intron_variant BRCA-EU X 30992778 30992778 single base substitution C G intron_variant BRCA-EU X 30993110 30993110 single base substitution C G intron_variant BRCA-EU X 30993912 30993912 single base substitution G C upstream_gene_variant BRCA-EU X 30994651 30994651 single base substitution C A upstream_gene_variant BRCA-EU X 30996248 30996248 single base substitution C G upstream_gene_variant BRCA-EU X 30997453 30997453 single base substitution C T upstream_gene_variant BRCA-FR X 30843875 30843875 single base substitution T C downstream_gene_variant BRCA-FR X 30850669 30850669 single base substitution C T downstream_gene_variant BRCA-FR X 30850669 30850669 single base substitution C T intron_variant BRCA-FR X 30854659 30854659 single base substitution C A 3_prime_UTR_variant BRCA-FR X 30854659 30854659 single base substitution C A intron_variant BRCA-FR X 30864121 30864121 single base substitution G T 3_prime_UTR_variant BRCA-FR X 30864121 30864121 single base substitution G T intron_variant BRCA-FR X 30864121 30864121 single base substitution G T missense_variant F75L 225C>A BRCA-FR X 30865282 30865282 single base substitution T G intron_variant BRCA-FR X 30866768 30866768 single base substitution G A intron_variant BRCA-FR X 30867429 30867429 single base substitution G C intron_variant BRCA-FR X 30868310 30868310 single base substitution C G intron_variant BRCA-FR X 30869875 30869875 single base substitution G T intron_variant BRCA-FR X 30869876 30869876 single base substitution G T intron_variant BRCA-FR X 30870767 30870767 single base substitution A G intron_variant BRCA-FR X 30870800 30870800 single base substitution C T intron_variant BRCA-FR X 30872441 30872441 single base substitution C T exon_variant BRCA-FR X 30872441 30872441 single base substitution C T synonymous_variant V447V 1341G>A BRCA-FR X 30872441 30872441 single base substitution C T upstream_gene_variant BRCA-FR X 30880980 30880980 single base substitution C T intron_variant BRCA-FR X 30880980 30880980 single base substitution C T upstream_gene_variant BRCA-FR X 30892755 30892755 single base substitution G A intron_variant BRCA-FR X 30892755 30892755 single base substitution G A upstream_gene_variant BRCA-FR X 30893308 30893308 single base substitution G C intron_variant BRCA-FR X 30893308 30893308 single base substitution G C upstream_gene_variant BRCA-FR X 30900219 30900219 single base substitution G A intron_variant BRCA-FR X 30902410 30902410 single base substitution C A intron_variant BRCA-FR X 30902896 30902896 single base substitution C T intron_variant BRCA-FR X 30904009 30904009 single base substitution G A intron_variant BRCA-FR X 30905434 30905434 single base substitution A G intron_variant BRCA-FR X 30906827 30906827 single base substitution C G intron_variant BRCA-FR X 30907980 30907980 single base substitution C T intron_variant BRCA-FR X 30908236 30908236 single base substitution G A intron_variant BRCA-FR X 30911589 30911589 single base substitution G C intron_variant BRCA-FR X 30912072 30912072 single base substitution G C intron_variant BRCA-FR X 30914487 30914487 single base substitution C T intron_variant BRCA-FR X 30914654 30914654 single base substitution G T intron_variant BRCA-FR X 30915697 30915697 single base substitution C T intron_variant BRCA-FR X 30923141 30923141 single base substitution C A intron_variant BRCA-FR X 30933943 30933943 single base substitution C A intron_variant BRCA-FR X 30939483 30939483 single base substitution G C intron_variant BRCA-FR X 30947654 30947654 single base substitution G T intron_variant BRCA-FR X 30950727 30950727 single base substitution A G intron_variant BRCA-FR X 30955659 30955659 single base substitution C T intron_variant BRCA-FR X 30956471 30956471 single base substitution G A intron_variant BRCA-FR X 30958553 30958553 single base substitution T C intron_variant BRCA-FR X 30960117 30960117 single base substitution T A intron_variant BRCA-FR X 30960727 30960727 single base substitution T C intron_variant BRCA-FR X 30961122 30961122 single base substitution C T intron_variant BRCA-FR X 30962941 30962941 single base substitution A T intron_variant BRCA-FR X 30962947 30962947 single base substitution T C intron_variant BRCA-FR X 30963738 30963738 single base substitution G T intron_variant BRCA-FR X 30971330 30971330 single base substitution T A intron_variant BRCA-FR X 30978307 30978307 single base substitution C T intron_variant BRCA-FR X 30979544 30979544 single base substitution C A intron_variant BRCA-FR X 30983852 30983852 single base substitution T C intron_variant BRCA-FR X 30988060 30988060 single base substitution G C intron_variant BRCA-FR X 30997453 30997453 single base substitution C T upstream_gene_variant BRCA-KR X 30877657 30877657 single base substitution G A exon_variant BRCA-KR X 30877657 30877657 single base substitution G A stop_gained R17* 49C>T BRCA-UK X 30852213 30852213 single base substitution T C downstream_gene_variant BRCA-UK X 30852213 30852213 single base substitution T C missense_variant K621E 1861A>G BRCA-UK X 30852213 30852213 single base substitution T C missense_variant K649E 1945A>G BRCA-UK X 30886198 30886198 single base substitution G C intron_variant BRCA-UK X 30886198 30886198 single base substitution G C upstream_gene_variant BRCA-UK X 30903038 30903038 single base substitution G A intron_variant BRCA-UK X 30912108 30912108 single base substitution C T intron_variant BRCA-UK X 30914165 30914165 single base substitution G T intron_variant BRCA-UK X 30920137 30920137 single base substitution G A intron_variant BRCA-UK X 30939511 30939511 single base substitution G T intron_variant BRCA-UK X 30947148 30947148 single base substitution G A intron_variant BRCA-UK X 30951751 30951751 single base substitution C G intron_variant BRCA-UK X 30953688 30953688 single base substitution G C intron_variant BRCA-UK X 30967369 30967369 single base substitution C T intron_variant BRCA-UK X 30984099 30984099 single base substitution C T intron_variant BRCA-US X 30872292 30872292 single base substitution C T exon_variant BRCA-US X 30872292 30872292 single base substitution C T missense_variant G497E 1490G>A BRCA-US X 30872292 30872292 single base substitution C T upstream_gene_variant BRCA-US X 30872359 30872359 single base substitution C G exon_variant BRCA-US X 30872359 30872359 single base substitution C G missense_variant E475Q 1423G>C BRCA-US X 30872359 30872359 single base substitution C G upstream_gene_variant BRCA-US X 30872398 30872398 single base substitution C T exon_variant BRCA-US X 30872398 30872398 single base substitution C T missense_variant A462T 1384G>A BRCA-US X 30872398 30872398 single base substitution C T upstream_gene_variant BRCA-US X 30872538 30872538 deletion of <=200bp G - exon_variant BRCA-US X 30872538 30872538 deletion of <=200bp G - frameshift_variant S415 BRCA-US X 30872538 30872538 deletion of <=200bp G - upstream_gene_variant BRCA-US X 30872751 30872751 single base substitution C T exon_variant BRCA-US X 30872751 30872751 single base substitution C T missense_variant G344E 1031G>A BRCA-US X 30872751 30872751 single base substitution C T upstream_gene_variant BRCA-US X 30873285 30873285 single base substitution C T exon_variant BRCA-US X 30873285 30873285 single base substitution C T missense_variant G166E 497G>A BRCA-US X 30873285 30873285 single base substitution C T upstream_gene_variant BRCA-US X 30873310 30873310 single base substitution G A exon_variant BRCA-US X 30873310 30873310 single base substitution G A stop_gained Q158* 472C>T BRCA-US X 30873310 30873310 single base substitution G A upstream_gene_variant BRCA-US X 30873374 30873374 single base substitution G A exon_variant BRCA-US X 30873374 30873374 single base substitution G A synonymous_variant N136N 408C>T BRCA-US X 30873374 30873374 single base substitution G A upstream_gene_variant BRCA-US X 30873405 30873405 single base substitution G T exon_variant BRCA-US X 30873405 30873405 single base substitution G T stop_gained S126* 377C>A BRCA-US X 30873405 30873405 single base substitution G T upstream_gene_variant BRCA-US X 30873431 30873431 single base substitution C T exon_variant BRCA-US X 30873431 30873431 single base substitution C T synonymous_variant L117L 351G>A BRCA-US X 30873431 30873431 single base substitution C T upstream_gene_variant BRCA-US X 30877660 30877660 single base substitution G C exon_variant BRCA-US X 30877660 30877660 single base substitution G C missense_variant L16V 46C>G BTCA-JP X 30846640 30846640 insertion of <=200bp - T 3_prime_UTR_variant BTCA-JP X 30846640 30846640 insertion of <=200bp - T downstream_gene_variant BTCA-JP X 30864101 30864101 single base substitution G A 3_prime_UTR_variant BTCA-JP X 30864101 30864101 single base substitution G A intron_variant BTCA-JP X 30864101 30864101 single base substitution G A missense_variant T82I 245C>T BTCA-JP X 30872524 30872524 single base substitution G T exon_variant BTCA-JP X 30872524 30872524 single base substitution G T missense_variant P420T 1258C>A BTCA-JP X 30872524 30872524 single base substitution G T upstream_gene_variant BTCA-JP X 30873390 30873390 single base substitution A G exon_variant BTCA-JP X 30873390 30873390 single base substitution A G missense_variant V131A 392T>C BTCA-JP X 30873390 30873390 single base substitution A G upstream_gene_variant BTCA-JP X 30873537 30873537 single base substitution C G exon_variant BTCA-JP X 30873537 30873537 single base substitution C G missense_variant S82T 245G>C BTCA-JP X 30873537 30873537 single base substitution C G upstream_gene_variant CESC-US X 30864732 30864732 single base substitution C G exon_variant CESC-US X 30864732 30864732 single base substitution C G missense_variant M31I 93G>C CESC-US X 30864732 30864732 single base substitution C G missense_variant M580I 1740G>C CESC-US X 30870896 30870896 single base substitution G A missense_variant T21M 62C>T CESC-US X 30870896 30870896 single base substitution G A missense_variant T570M 1709C>T CESC-US X 30870896 30870896 single base substitution G A splice_region_variant CESC-US X 30872356 30872356 single base substitution G A exon_variant CESC-US X 30872356 30872356 single base substitution G A missense_variant R476C 1426C>T CESC-US X 30872356 30872356 single base substitution G A upstream_gene_variant CESC-US X 30872550 30872550 single base substitution G A exon_variant CESC-US X 30872550 30872550 single base substitution G A missense_variant S411L 1232C>T CESC-US X 30872550 30872550 single base substitution G A upstream_gene_variant CESC-US X 30872913 30872913 single base substitution G A exon_variant CESC-US X 30872913 30872913 single base substitution G A missense_variant S290F 869C>T CESC-US X 30872913 30872913 single base substitution G A upstream_gene_variant CESC-US X 30877610 30877610 single base substitution C T exon_variant CESC-US X 30877610 30877610 single base substitution C T missense_variant M32I 96G>A CLLE-ES X 30856766 30856766 single base substitution T G downstream_gene_variant CLLE-ES X 30856766 30856766 single base substitution T G intron_variant CLLE-ES X 30878243 30878243 single base substitution A C intron_variant CLLE-ES X 30878243 30878243 single base substitution A C upstream_gene_variant CLLE-ES X 30886894 30886894 single base substitution A T intron_variant CLLE-ES X 30886894 30886894 single base substitution A T upstream_gene_variant CLLE-ES X 30888388 30888388 single base substitution T A intron_variant CLLE-ES X 30888388 30888388 single base substitution T A upstream_gene_variant CLLE-ES X 30890024 30890024 single base substitution G A intron_variant CLLE-ES X 30890024 30890024 single base substitution G A upstream_gene_variant CLLE-ES X 30909387 30909387 single base substitution C T intron_variant CLLE-ES X 30918786 30918786 single base substitution T G intron_variant CLLE-ES X 30932671 30932671 deletion of <=200bp A - intron_variant CLLE-ES X 30948806 30948806 single base substitution C T intron_variant CLLE-ES X 30949510 30949510 single base substitution C T intron_variant CLLE-ES X 30994212 30994212 single base substitution G A upstream_gene_variant CLLE-ES X 30994559 30994559 single base substitution A C upstream_gene_variant CLLE-ES X 30994891 30994891 single base substitution T A upstream_gene_variant COAD-US X 30872751 30872751 single base substitution C T exon_variant COAD-US X 30872751 30872751 single base substitution C T missense_variant G344E 1031G>A COAD-US X 30872751 30872751 single base substitution C T upstream_gene_variant COAD-US X 30872961 30872961 single base substitution T C exon_variant COAD-US X 30872961 30872961 single base substitution T C missense_variant N274S 821A>G COAD-US X 30872961 30872961 single base substitution T C upstream_gene_variant COAD-US X 30873039 30873039 single base substitution G A exon_variant COAD-US X 30873039 30873039 single base substitution G A missense_variant T248M 743C>T COAD-US X 30873039 30873039 single base substitution G A upstream_gene_variant COCA-CN X 30849528 30849528 single base substitution G A 3_prime_UTR_variant COCA-CN X 30849528 30849528 single base substitution G A downstream_gene_variant COCA-CN X 30864833 30864833 single base substitution T C intron_variant COCA-CN X 30872294 30872294 single base substitution C A exon_variant COCA-CN X 30872294 30872294 single base substitution C A missense_variant K496N 1488G>T COCA-CN X 30872294 30872294 single base substitution C A upstream_gene_variant COCA-CN X 30872295 30872295 single base substitution T C exon_variant COCA-CN X 30872295 30872295 single base substitution T C missense_variant K496R 1487A>G COCA-CN X 30872295 30872295 single base substitution T C upstream_gene_variant COCA-CN X 30873601 30873601 single base substitution G T exon_variant COCA-CN X 30873601 30873601 single base substitution G T missense_variant P61T 181C>A COCA-CN X 30873601 30873601 single base substitution G T upstream_gene_variant ESCA-CN X 30872484 30872484 single base substitution T A exon_variant ESCA-CN X 30872484 30872484 single base substitution T A missense_variant Q433L 1298A>T ESCA-CN X 30872484 30872484 single base substitution T A upstream_gene_variant GBM-US X 30872355 30872355 single base substitution C T exon_variant GBM-US X 30872355 30872355 single base substitution C T missense_variant R476H 1427G>A GBM-US X 30872355 30872355 single base substitution C T upstream_gene_variant KIRC-US X 30849594 30849594 single base substitution G A downstream_gene_variant KIRC-US X 30849594 30849594 single base substitution G A missense_variant H669Y 2005C>T KIRC-US X 30849594 30849594 single base substitution G A missense_variant H697Y 2089C>T LAML-KR X 30995180 30995180 single base substitution C A upstream_gene_variant LICA-FR X 30849645 30849645 insertion of <=200bp - C downstream_gene_variant LICA-FR X 30849645 30849645 insertion of <=200bp - C frameshift_variant E652G? LICA-FR X 30849645 30849645 insertion of <=200bp - C frameshift_variant E680G? LICA-FR X 30872621 30872621 single base substitution G T exon_variant LICA-FR X 30872621 30872621 single base substitution G T synonymous_variant I387I 1161C>A LICA-FR X 30872621 30872621 single base substitution G T upstream_gene_variant LICA-FR X 30896634 30896634 insertion of <=200bp - AAG intron_variant LICA-FR X 30927636 30927636 single base substitution G T intron_variant LICA-FR X 30930750 30930750 single base substitution C A intron_variant LICA-FR X 30935091 30935091 single base substitution A G intron_variant LICA-FR X 30936077 30936077 single base substitution T C intron_variant LICA-FR X 30936242 30936242 single base substitution T G intron_variant LICA-FR X 30972580 30972580 single base substitution A G intron_variant LICA-FR X 30982555 30982555 single base substitution C T intron_variant LIHC-US X 30870987 30870987 single base substitution G A 5_prime_UTR_variant LIHC-US X 30870987 30870987 single base substitution G A exon_variant LIHC-US X 30870987 30870987 single base substitution G A synonymous_variant L540L 1618C>T LINC-JP X 30840912 30840912 single base substitution T C downstream_gene_variant LINC-JP X 30845243 30845243 single base substitution C A downstream_gene_variant LINC-JP X 30859321 30859321 single base substitution T A downstream_gene_variant LINC-JP X 30859321 30859321 single base substitution T A intron_variant LINC-JP X 30887039 30887039 single base substitution C G intron_variant LINC-JP X 30887039 30887039 single base substitution C G upstream_gene_variant LINC-JP X 30887422 30887422 single base substitution C T intron_variant LINC-JP X 30887422 30887422 single base substitution C T upstream_gene_variant LINC-JP X 30893592 30893592 deletion of <=200bp T - intron_variant LINC-JP X 30893592 30893592 deletion of <=200bp T - upstream_gene_variant LINC-JP X 30902264 30902264 single base substitution T A intron_variant LINC-JP X 30904305 30904305 single base substitution G T intron_variant LINC-JP X 30910188 30910188 single base substitution T G intron_variant LINC-JP X 30916496 30916496 single base substitution A T intron_variant LINC-JP X 30926155 30926155 single base substitution G A intron_variant LINC-JP X 30945909 30945909 single base substitution A G intron_variant LINC-JP X 30974071 30974071 single base substitution A G intron_variant LIRI-JP X 30843940 30843940 single base substitution T C downstream_gene_variant LIRI-JP X 30845011 30845011 single base substitution T C downstream_gene_variant LIRI-JP X 30845190 30845190 single base substitution A C downstream_gene_variant LIRI-JP X 30854104 30854104 single base substitution T C 3_prime_UTR_variant LIRI-JP X 30854104 30854104 single base substitution T C intron_variant LIRI-JP X 30863663 30863663 single base substitution T C 3_prime_UTR_variant LIRI-JP X 30863663 30863663 single base substitution T C intron_variant LIRI-JP X 30864401 30864401 single base substitution C T 3_prime_UTR_variant LIRI-JP X 30864401 30864401 single base substitution C T intron_variant LIRI-JP X 30866247 30866247 single base substitution T C intron_variant LIRI-JP X 30866476 30866476 single base substitution T C intron_variant LIRI-JP X 30866645 30866645 single base substitution A C intron_variant LIRI-JP X 30866683 30866683 single base substitution T C intron_variant LIRI-JP X 30867408 30867408 single base substitution C T intron_variant LIRI-JP X 30868048 30868066 deletion of <=200bp ATTTTATAAGAACACTTAC - intron_variant LIRI-JP X 30869409 30869409 single base substitution G T intron_variant LIRI-JP X 30870003 30870003 single base substitution G C intron_variant LIRI-JP X 30871531 30871531 single base substitution T G intron_variant LIRI-JP X 30871531 30871531 single base substitution T G upstream_gene_variant LIRI-JP X 30873232 30873232 insertion of <=200bp - A exon_variant LIRI-JP X 30873232 30873232 insertion of <=200bp - A frameshift_variant Y184L? LIRI-JP X 30873232 30873232 insertion of <=200bp - A upstream_gene_variant LIRI-JP X 30876817 30876817 single base substitution A C intron_variant LIRI-JP X 30877765 30877765 single base substitution A C 5_prime_UTR_variant LIRI-JP X 30879151 30879151 single base substitution T C intron_variant LIRI-JP X 30879151 30879151 single base substitution T C upstream_gene_variant LIRI-JP X 30880443 30880443 single base substitution A T intron_variant LIRI-JP X 30880443 30880443 single base substitution A T upstream_gene_variant LIRI-JP X 30883977 30883977 single base substitution T C intron_variant LIRI-JP X 30892302 30892302 single base substitution C T intron_variant LIRI-JP X 30892302 30892302 single base substitution C T upstream_gene_variant LIRI-JP X 30893001 30893001 single base substitution T G intron_variant LIRI-JP X 30893001 30893001 single base substitution T G upstream_gene_variant LIRI-JP X 30893757 30893757 single base substitution G T intron_variant LIRI-JP X 30893757 30893757 single base substitution G T upstream_gene_variant LIRI-JP X 30897670 30897670 single base substitution T C intron_variant LIRI-JP X 30898576 30898576 single base substitution T C intron_variant LIRI-JP X 30901211 30901211 single base substitution T A intron_variant LIRI-JP X 30902149 30902188 deletion of <=200bp ATGGTGTTACTGAAAAAAATAAGCTTAATATTCTATGAAT - intron_variant LIRI-JP X 30902207 30902207 single base substitution T C intron_variant LIRI-JP X 30903785 30903785 insertion of <=200bp - GA intron_variant LIRI-JP X 30906490 30906490 single base substitution T C intron_variant LIRI-JP X 30908311 30908311 single base substitution T A intron_variant LIRI-JP X 30915226 30915226 single base substitution T C intron_variant LIRI-JP X 30916421 30916421 single base substitution A G intron_variant LIRI-JP X 30919083 30919083 single base substitution T C intron_variant LIRI-JP X 30919951 30919951 single base substitution T C intron_variant LIRI-JP X 30923764 30923764 single base substitution A T intron_variant LIRI-JP X 30925662 30925662 single base substitution A G intron_variant LIRI-JP X 30927045 30927045 single base substitution G T intron_variant LIRI-JP X 30927833 30927833 single base substitution T C intron_variant LIRI-JP X 30928448 30928448 single base substitution C A intron_variant LIRI-JP X 30931903 30931903 single base substitution C T intron_variant LIRI-JP X 30935329 30935329 single base substitution G T intron_variant LIRI-JP X 30935421 30935421 single base substitution C G intron_variant LIRI-JP X 30935755 30935755 single base substitution T C intron_variant LIRI-JP X 30939129 30939129 single base substitution T C intron_variant LIRI-JP X 30939470 30939470 single base substitution T C intron_variant LIRI-JP X 30948688 30948688 single base substitution A C intron_variant LIRI-JP X 30948972 30948972 single base substitution A T intron_variant LIRI-JP X 30953230 30953230 single base substitution T C intron_variant LIRI-JP X 30954287 30954287 single base substitution A G intron_variant LIRI-JP X 30958128 30958128 single base substitution G A intron_variant LIRI-JP X 30958291 30958291 single base substitution T A intron_variant LIRI-JP X 30960996 30960996 single base substitution G A intron_variant LIRI-JP X 30961718 30961718 single base substitution T A intron_variant LIRI-JP X 30961936 30961936 single base substitution C T intron_variant LIRI-JP X 30962068 30962068 single base substitution G C intron_variant LIRI-JP X 30963151 30963151 single base substitution G T intron_variant LIRI-JP X 30964086 30964086 single base substitution A G intron_variant LIRI-JP X 30965333 30965333 single base substitution C G intron_variant LIRI-JP X 30966501 30966501 single base substitution A C intron_variant LIRI-JP X 30967686 30967686 single base substitution T C intron_variant LIRI-JP X 30973230 30973230 single base substitution T C intron_variant LIRI-JP X 30976178 30976178 single base substitution G C intron_variant LIRI-JP X 30976248 30976248 single base substitution T G intron_variant LIRI-JP X 30978395 30978395 single base substitution G A intron_variant LIRI-JP X 30979696 30979696 single base substitution G C intron_variant LIRI-JP X 30983354 30983354 single base substitution G A intron_variant LIRI-JP X 30983418 30983418 single base substitution T C intron_variant LIRI-JP X 30984260 30984260 single base substitution C G intron_variant LIRI-JP X 30984612 30984612 single base substitution G C intron_variant LIRI-JP X 30985962 30985962 single base substitution T C intron_variant LIRI-JP X 30986181 30986181 single base substitution A G intron_variant LIRI-JP X 30986825 30986825 single base substitution C T intron_variant LIRI-JP X 30986864 30986864 single base substitution C G intron_variant LIRI-JP X 30987597 30987597 single base substitution G T intron_variant LIRI-JP X 30989350 30989350 single base substitution T C intron_variant LIRI-JP X 30989750 30989750 single base substitution A G intron_variant LIRI-JP X 30989856 30989856 single base substitution T A intron_variant LIRI-JP X 30997525 30997525 single base substitution C T upstream_gene_variant LUSC-KR X 30843365 30843365 single base substitution C A downstream_gene_variant LUSC-KR X 30843495 30843495 single base substitution C A downstream_gene_variant LUSC-KR X 30846533 30846533 single base substitution C G 3_prime_UTR_variant LUSC-KR X 30846533 30846533 single base substitution C G downstream_gene_variant LUSC-KR X 30848349 30848349 single base substitution T C 3_prime_UTR_variant LUSC-KR X 30848349 30848349 single base substitution T C downstream_gene_variant LUSC-KR X 30848403 30848403 single base substitution G A 3_prime_UTR_variant LUSC-KR X 30848403 30848403 single base substitution G A downstream_gene_variant LUSC-KR X 30848628 30848628 single base substitution T A 3_prime_UTR_variant LUSC-KR X 30848628 30848628 single base substitution T A downstream_gene_variant LUSC-KR X 30851246 30851246 single base substitution C A downstream_gene_variant LUSC-KR X 30851246 30851246 single base substitution C A intron_variant LUSC-KR X 30852119 30852119 single base substitution C T downstream_gene_variant LUSC-KR X 30852119 30852119 single base substitution C T intron_variant LUSC-KR X 30869578 30869578 single base substitution G A intron_variant LUSC-KR X 30888606 30888606 single base substitution T A intron_variant LUSC-KR X 30888606 30888606 single base substitution T A upstream_gene_variant LUSC-KR X 30890532 30890532 single base substitution G C intron_variant LUSC-KR X 30890532 30890532 single base substitution G C upstream_gene_variant LUSC-KR X 30891113 30891113 single base substitution C T intron_variant LUSC-KR X 30891113 30891113 single base substitution C T upstream_gene_variant LUSC-KR X 30891245 30891245 single base substitution A T intron_variant LUSC-KR X 30891245 30891245 single base substitution A T upstream_gene_variant LUSC-KR X 30903124 30903124 single base substitution T C intron_variant LUSC-KR X 30927621 30927621 single base substitution G T intron_variant LUSC-KR X 30929737 30929737 single base substitution C A intron_variant LUSC-KR X 30934218 30934218 single base substitution G T intron_variant LUSC-KR X 30936676 30936676 single base substitution G C intron_variant LUSC-KR X 30937795 30937795 single base substitution G C intron_variant LUSC-KR X 30938210 30938210 single base substitution G A intron_variant LUSC-KR X 30939928 30939928 single base substitution C T intron_variant LUSC-KR X 30941138 30941138 single base substitution G T intron_variant LUSC-KR X 30942678 30942678 single base substitution A G intron_variant LUSC-KR X 30946181 30946181 single base substitution A G intron_variant LUSC-KR X 30947278 30947278 single base substitution G A intron_variant LUSC-KR X 30947529 30947529 single base substitution A T intron_variant LUSC-KR X 30950116 30950116 single base substitution C T intron_variant LUSC-KR X 30952473 30952473 single base substitution C T intron_variant LUSC-KR X 30962471 30962471 single base substitution T A intron_variant LUSC-KR X 30962703 30962703 single base substitution C A intron_variant LUSC-KR X 30968004 30968004 single base substitution T A intron_variant LUSC-KR X 30977045 30977045 single base substitution G A intron_variant LUSC-KR X 30977558 30977558 single base substitution C T intron_variant LUSC-KR X 30979677 30979677 single base substitution G C intron_variant LUSC-KR X 30979878 30979878 single base substitution C A intron_variant LUSC-KR X 30984959 30984959 single base substitution A G intron_variant LUSC-KR X 30986572 30986572 single base substitution G T intron_variant LUSC-KR X 30993805 30993805 single base substitution C G upstream_gene_variant LUSC-KR X 30993884 30993884 single base substitution G T upstream_gene_variant LUSC-US X 30849553 30849553 single base substitution C T downstream_gene_variant LUSC-US X 30849553 30849553 single base substitution C T synonymous_variant R682R 2046G>A LUSC-US X 30849553 30849553 single base substitution C T synonymous_variant R710R 2130G>A LUSC-US X 30872797 30872797 single base substitution G T exon_variant LUSC-US X 30872797 30872797 single base substitution G T missense_variant P329T 985C>A LUSC-US X 30872797 30872797 single base substitution G T upstream_gene_variant LUSC-US X 30872850 30872850 single base substitution A G exon_variant LUSC-US X 30872850 30872850 single base substitution A G missense_variant V311A 932T>C LUSC-US X 30872850 30872850 single base substitution A G upstream_gene_variant LUSC-US X 30873081 30873081 single base substitution T C exon_variant LUSC-US X 30873081 30873081 single base substitution T C missense_variant Q234R 701A>G LUSC-US X 30873081 30873081 single base substitution T C upstream_gene_variant LUSC-US X 30873249 30873249 single base substitution G T exon_variant LUSC-US X 30873249 30873249 single base substitution G T missense_variant P178Q 533C>A LUSC-US X 30873249 30873249 single base substitution G T upstream_gene_variant LUSC-US X 30873661 30873661 single base substitution C T exon_variant LUSC-US X 30873661 30873661 single base substitution C T missense_variant A41T 121G>A LUSC-US X 30873661 30873661 single base substitution C T upstream_gene_variant MALY-DE X 30840638 30840638 single base substitution A T downstream_gene_variant MALY-DE X 30842984 30842984 single base substitution T C downstream_gene_variant MALY-DE X 30844324 30844324 single base substitution C T downstream_gene_variant MALY-DE X 30845266 30845266 single base substitution T A downstream_gene_variant MALY-DE X 30848066 30848066 single base substitution C T 3_prime_UTR_variant MALY-DE X 30848066 30848066 single base substitution C T downstream_gene_variant MALY-DE X 30850217 30850217 single base substitution G A downstream_gene_variant MALY-DE X 30850217 30850217 single base substitution G A intron_variant MALY-DE X 30854741 30854741 single base substitution C T 3_prime_UTR_variant MALY-DE X 30854741 30854741 single base substitution C T intron_variant MALY-DE X 30860071 30860071 single base substitution G A downstream_gene_variant MALY-DE X 30860071 30860071 single base substitution G A intron_variant MALY-DE X 30861219 30861219 single base substitution T C 3_prime_UTR_variant MALY-DE X 30861219 30861219 single base substitution T C intron_variant MALY-DE X 30866617 30866617 single base substitution C G intron_variant MALY-DE X 30870422 30870422 single base substitution G A intron_variant MALY-DE X 30872503 30872503 single base substitution C T exon_variant MALY-DE X 30872503 30872503 single base substitution C T missense_variant V427M 1279G>A MALY-DE X 30872503 30872503 single base substitution C T upstream_gene_variant MALY-DE X 30876020 30876020 single base substitution G T intron_variant MALY-DE X 30885289 30885289 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE X 30899113 30899113 single base substitution C T intron_variant MALY-DE X 30905309 30905309 single base substitution G T intron_variant MALY-DE X 30906656 30906656 single base substitution A G intron_variant MALY-DE X 30910765 30910765 single base substitution T C intron_variant MALY-DE X 30919180 30919180 single base substitution A G intron_variant MALY-DE X 30925187 30925187 single base substitution A C intron_variant MALY-DE X 30929017 30929017 single base substitution G A intron_variant MALY-DE X 30931766 30931767 deletion of <=200bp GT - intron_variant MALY-DE X 30935483 30935483 single base substitution A G intron_variant MALY-DE X 30938341 30938341 single base substitution G A intron_variant MALY-DE X 30939788 30939788 single base substitution C A intron_variant MALY-DE X 30942452 30942452 deletion of <=200bp T - intron_variant MALY-DE X 30944648 30944648 single base substitution G A intron_variant MALY-DE X 30944910 30944910 single base substitution C T intron_variant MALY-DE X 30947417 30947418 deletion of <=200bp AC - intron_variant MALY-DE X 30951787 30951787 single base substitution G T intron_variant MALY-DE X 30952919 30952919 single base substitution A T intron_variant MALY-DE X 30955391 30955391 single base substitution A C intron_variant MALY-DE X 30956276 30956276 single base substitution A C intron_variant MALY-DE X 30966056 30966056 single base substitution A T intron_variant MALY-DE X 30981193 30981193 single base substitution C T intron_variant MALY-DE X 30988868 30988868 single base substitution A C intron_variant MALY-DE X 30994550 30994550 single base substitution C A upstream_gene_variant MELA-AU X 30840682 30840682 single base substitution G A downstream_gene_variant MELA-AU X 30841443 30841443 single base substitution G T downstream_gene_variant MELA-AU X 30841852 30841852 single base substitution C T downstream_gene_variant MELA-AU X 30841953 30841953 single base substitution C G downstream_gene_variant MELA-AU X 30842350 30842350 single base substitution G A downstream_gene_variant MELA-AU X 30842377 30842377 single base substitution G T downstream_gene_variant MELA-AU X 30842405 30842405 single base substitution C T downstream_gene_variant MELA-AU X 30842861 30842861 single base substitution C T downstream_gene_variant MELA-AU X 30842898 30842898 single base substitution G A downstream_gene_variant MELA-AU X 30843726 30843726 single base substitution G A downstream_gene_variant MELA-AU X 30844482 30844482 single base substitution C T downstream_gene_variant MELA-AU X 30844722 30844722 single base substitution G A downstream_gene_variant MELA-AU X 30845253 30845253 single base substitution G A downstream_gene_variant MELA-AU X 30847591 30847591 single base substitution G A 3_prime_UTR_variant MELA-AU X 30847591 30847591 single base substitution G A downstream_gene_variant MELA-AU X 30848042 30848042 single base substitution C A 3_prime_UTR_variant MELA-AU X 30848042 30848042 single base substitution C A downstream_gene_variant MELA-AU X 30848177 30848177 single base substitution T C 3_prime_UTR_variant MELA-AU X 30848177 30848177 single base substitution T C downstream_gene_variant MELA-AU X 30848381 30848381 single base substitution C T 3_prime_UTR_variant MELA-AU X 30848381 30848381 single base substitution C T downstream_gene_variant MELA-AU X 30849387 30849387 single base substitution C T 3_prime_UTR_variant MELA-AU X 30849387 30849387 single base substitution C T downstream_gene_variant MELA-AU X 30849698 30849698 single base substitution G A downstream_gene_variant MELA-AU X 30849698 30849698 single base substitution G A intron_variant MELA-AU X 30849994 30849994 single base substitution G A downstream_gene_variant MELA-AU X 30849994 30849994 single base substitution G A intron_variant MELA-AU X 30851344 30851345 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU X 30851344 30851345 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 30851407 30851407 single base substitution G A downstream_gene_variant MELA-AU X 30851407 30851407 single base substitution G A intron_variant MELA-AU X 30851491 30851491 single base substitution G C downstream_gene_variant MELA-AU X 30851491 30851491 single base substitution G C intron_variant MELA-AU X 30851696 30851696 single base substitution C T downstream_gene_variant MELA-AU X 30851696 30851696 single base substitution C T intron_variant MELA-AU X 30852350 30852350 single base substitution A G downstream_gene_variant MELA-AU X 30852350 30852350 single base substitution A G intron_variant MELA-AU X 30852607 30852607 single base substitution G A downstream_gene_variant MELA-AU X 30852607 30852607 single base substitution G A intron_variant MELA-AU X 30852726 30852726 single base substitution G A downstream_gene_variant MELA-AU X 30852726 30852726 single base substitution G A intron_variant MELA-AU X 30852908 30852908 single base substitution T C 3_prime_UTR_variant MELA-AU X 30852908 30852908 single base substitution T C intron_variant MELA-AU X 30853037 30853037 single base substitution C T 3_prime_UTR_variant MELA-AU X 30853037 30853037 single base substitution C T intron_variant MELA-AU X 30854578 30854578 single base substitution A C 3_prime_UTR_variant MELA-AU X 30854578 30854578 single base substitution A C intron_variant MELA-AU X 30854618 30854618 single base substitution G A 3_prime_UTR_variant MELA-AU X 30854618 30854618 single base substitution G A intron_variant MELA-AU X 30854991 30854991 single base substitution G A intron_variant MELA-AU X 30855049 30855049 single base substitution G A intron_variant MELA-AU X 30855256 30855256 single base substitution C T intron_variant MELA-AU X 30855581 30855581 single base substitution C T intron_variant MELA-AU X 30856914 30856914 single base substitution G A downstream_gene_variant MELA-AU X 30856914 30856914 single base substitution G A intron_variant MELA-AU X 30857002 30857002 single base substitution T C downstream_gene_variant MELA-AU X 30857002 30857002 single base substitution T C intron_variant MELA-AU X 30857334 30857334 single base substitution G A downstream_gene_variant MELA-AU X 30857334 30857334 single base substitution G A intron_variant MELA-AU X 30857351 30857351 single base substitution T G downstream_gene_variant MELA-AU X 30857351 30857351 single base substitution T G intron_variant MELA-AU X 30858415 30858415 deletion of <=200bp T - downstream_gene_variant MELA-AU X 30858415 30858415 deletion of <=200bp T - intron_variant MELA-AU X 30858559 30858559 single base substitution G A downstream_gene_variant MELA-AU X 30858559 30858559 single base substitution G A intron_variant MELA-AU X 30858673 30858674 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 30858673 30858674 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 30858950 30858950 single base substitution A G downstream_gene_variant MELA-AU X 30858950 30858950 single base substitution A G intron_variant MELA-AU X 30859084 30859084 single base substitution C T downstream_gene_variant MELA-AU X 30859084 30859084 single base substitution C T intron_variant MELA-AU X 30859341 30859341 single base substitution C G downstream_gene_variant MELA-AU X 30859341 30859341 single base substitution C G intron_variant MELA-AU X 30859687 30859687 single base substitution T G downstream_gene_variant MELA-AU X 30859687 30859687 single base substitution T G intron_variant MELA-AU X 30859855 30859855 single base substitution G A downstream_gene_variant MELA-AU X 30859855 30859855 single base substitution G A intron_variant MELA-AU X 30860246 30860246 single base substitution A C downstream_gene_variant MELA-AU X 30860246 30860246 single base substitution A C intron_variant MELA-AU X 30860498 30860499 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU X 30860498 30860499 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 30861023 30861023 single base substitution G A downstream_gene_variant MELA-AU X 30861023 30861023 single base substitution G A intron_variant MELA-AU X 30861154 30861154 single base substitution G A 3_prime_UTR_variant MELA-AU X 30861154 30861154 single base substitution G A intron_variant MELA-AU X 30861154 30861154 single base substitution G A missense_variant P606L 1817C>T MELA-AU X 30861740 30861740 single base substitution G A 3_prime_UTR_variant MELA-AU X 30861740 30861740 single base substitution G A intron_variant MELA-AU X 30862135 30862135 single base substitution C T 3_prime_UTR_variant MELA-AU X 30862135 30862135 single base substitution C T intron_variant MELA-AU X 30863212 30863212 single base substitution G A 3_prime_UTR_variant MELA-AU X 30863212 30863212 single base substitution G A intron_variant MELA-AU X 30863560 30863560 single base substitution C T 3_prime_UTR_variant MELA-AU X 30863560 30863560 single base substitution C T intron_variant MELA-AU X 30864314 30864314 single base substitution C T 3_prime_UTR_variant MELA-AU X 30864314 30864314 single base substitution C T intron_variant MELA-AU X 30866240 30866240 single base substitution G A intron_variant MELA-AU X 30866341 30866341 single base substitution G A intron_variant MELA-AU X 30866568 30866568 single base substitution G A intron_variant MELA-AU X 30866659 30866659 single base substitution C T intron_variant MELA-AU X 30866818 30866818 single base substitution C T intron_variant MELA-AU X 30867046 30867046 deletion of <=200bp G - intron_variant MELA-AU X 30867233 30867233 single base substitution C A intron_variant MELA-AU X 30867380 30867380 single base substitution G A intron_variant MELA-AU X 30867861 30867861 single base substitution G A intron_variant MELA-AU X 30868577 30868577 single base substitution C T intron_variant MELA-AU X 30868995 30868995 single base substitution G A intron_variant MELA-AU X 30869166 30869166 single base substitution G A intron_variant MELA-AU X 30869838 30869838 single base substitution A G intron_variant MELA-AU X 30869881 30869881 single base substitution G A intron_variant MELA-AU X 30869899 30869899 single base substitution C T intron_variant MELA-AU X 30871373 30871373 single base substitution T A intron_variant MELA-AU X 30871373 30871373 single base substitution T A upstream_gene_variant MELA-AU X 30871993 30871993 single base substitution T A intron_variant MELA-AU X 30871993 30871993 single base substitution T A upstream_gene_variant MELA-AU X 30872884 30872884 single base substitution A T exon_variant MELA-AU X 30872884 30872884 single base substitution A T missense_variant C300S 898T>A MELA-AU X 30872884 30872884 single base substitution A T upstream_gene_variant MELA-AU X 30873049 30873049 single base substitution G A exon_variant MELA-AU X 30873049 30873049 single base substitution G A missense_variant P245S 733C>T MELA-AU X 30873049 30873049 single base substitution G A upstream_gene_variant MELA-AU X 30873418 30873418 single base substitution G A exon_variant MELA-AU X 30873418 30873418 single base substitution G A stop_gained Q122* 364C>T MELA-AU X 30873418 30873418 single base substitution G A upstream_gene_variant MELA-AU X 30874409 30874409 single base substitution A C intron_variant MELA-AU X 30874409 30874409 single base substitution A C upstream_gene_variant MELA-AU X 30875763 30875763 single base substitution C T intron_variant MELA-AU X 30875763 30875763 single base substitution C T upstream_gene_variant MELA-AU X 30876400 30876400 single base substitution G A intron_variant MELA-AU X 30876681 30876681 single base substitution C A intron_variant MELA-AU X 30876792 30876792 single base substitution G A intron_variant MELA-AU X 30877425 30877425 single base substitution G A intron_variant MELA-AU X 30877733 30877733 single base substitution C T 5_prime_UTR_variant MELA-AU X 30877892 30877892 single base substitution C G intron_variant MELA-AU X 30877892 30877892 single base substitution C G upstream_gene_variant MELA-AU X 30878015 30878015 single base substitution C T intron_variant MELA-AU X 30878015 30878015 single base substitution C T upstream_gene_variant MELA-AU X 30878669 30878669 single base substitution G A intron_variant MELA-AU X 30878669 30878669 single base substitution G A upstream_gene_variant MELA-AU X 30878854 30878854 single base substitution G A intron_variant MELA-AU X 30878854 30878854 single base substitution G A upstream_gene_variant MELA-AU X 30879155 30879155 single base substitution A G intron_variant MELA-AU X 30879155 30879155 single base substitution A G upstream_gene_variant MELA-AU X 30879444 30879444 single base substitution G A intron_variant MELA-AU X 30879444 30879444 single base substitution G A upstream_gene_variant MELA-AU X 30880369 30880369 single base substitution G A intron_variant MELA-AU X 30880369 30880369 single base substitution G A upstream_gene_variant MELA-AU X 30880393 30880393 single base substitution C A intron_variant MELA-AU X 30880393 30880393 single base substitution C A upstream_gene_variant MELA-AU X 30881041 30881041 single base substitution G A intron_variant MELA-AU X 30881041 30881041 single base substitution G A upstream_gene_variant MELA-AU X 30881760 30881760 single base substitution C T intron_variant MELA-AU X 30881760 30881760 single base substitution C T upstream_gene_variant MELA-AU X 30882344 30882344 single base substitution A C intron_variant MELA-AU X 30882344 30882344 single base substitution A C upstream_gene_variant MELA-AU X 30882743 30882743 single base substitution C T intron_variant MELA-AU X 30882743 30882743 single base substitution C T upstream_gene_variant MELA-AU X 30882866 30882866 single base substitution G A intron_variant MELA-AU X 30884571 30884571 single base substitution G T intron_variant MELA-AU X 30884892 30884892 single base substitution C T intron_variant MELA-AU X 30885032 30885032 single base substitution A C intron_variant MELA-AU X 30886418 30886418 single base substitution A T intron_variant MELA-AU X 30886418 30886418 single base substitution A T upstream_gene_variant MELA-AU X 30886570 30886570 single base substitution A T intron_variant MELA-AU X 30886570 30886570 single base substitution A T upstream_gene_variant MELA-AU X 30886600 30886600 single base substitution A T intron_variant MELA-AU X 30886600 30886600 single base substitution A T upstream_gene_variant MELA-AU X 30888221 30888221 single base substitution A T intron_variant MELA-AU X 30888221 30888221 single base substitution A T upstream_gene_variant MELA-AU X 30889601 30889601 single base substitution C T intron_variant MELA-AU X 30889601 30889601 single base substitution C T upstream_gene_variant MELA-AU X 30891347 30891347 single base substitution T G intron_variant MELA-AU X 30891347 30891347 single base substitution T G upstream_gene_variant MELA-AU X 30891549 30891549 single base substitution G A intron_variant MELA-AU X 30891549 30891549 single base substitution G A upstream_gene_variant MELA-AU X 30892265 30892265 single base substitution G A intron_variant MELA-AU X 30892265 30892265 single base substitution G A upstream_gene_variant MELA-AU X 30892268 30892268 single base substitution G A intron_variant MELA-AU X 30892268 30892268 single base substitution G A upstream_gene_variant MELA-AU X 30893073 30893073 single base substitution G A intron_variant MELA-AU X 30893073 30893073 single base substitution G A upstream_gene_variant MELA-AU X 30893191 30893191 single base substitution C A intron_variant MELA-AU X 30893191 30893191 single base substitution C A upstream_gene_variant MELA-AU X 30894186 30894186 single base substitution G A intron_variant MELA-AU X 30894186 30894186 single base substitution G A upstream_gene_variant MELA-AU X 30894584 30894584 single base substitution A T intron_variant MELA-AU X 30894584 30894584 single base substitution A T upstream_gene_variant MELA-AU X 30895069 30895069 single base substitution G A intron_variant MELA-AU X 30895081 30895081 single base substitution G A intron_variant MELA-AU X 30895504 30895504 single base substitution G A intron_variant MELA-AU X 30895554 30895554 single base substitution A T intron_variant MELA-AU X 30896118 30896118 single base substitution A G intron_variant MELA-AU X 30896336 30896336 single base substitution G A intron_variant MELA-AU X 30896784 30896784 single base substitution C T intron_variant MELA-AU X 30897901 30897901 single base substitution G A intron_variant MELA-AU X 30898308 30898308 single base substitution A T intron_variant MELA-AU X 30898352 30898352 single base substitution C T intron_variant MELA-AU X 30898662 30898662 single base substitution G A intron_variant MELA-AU X 30900607 30900607 single base substitution C G intron_variant MELA-AU X 30900665 30900665 single base substitution C T intron_variant MELA-AU X 30901002 30901002 single base substitution G A intron_variant MELA-AU X 30904422 30904422 single base substitution G A intron_variant MELA-AU X 30905413 30905414 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 30905725 30905725 single base substitution A T intron_variant MELA-AU X 30906543 30906543 single base substitution G A intron_variant MELA-AU X 30907013 30907013 single base substitution G A intron_variant MELA-AU X 30907057 30907057 single base substitution C T intron_variant MELA-AU X 30907305 30907305 single base substitution C G intron_variant MELA-AU X 30908113 30908113 single base substitution C T intron_variant MELA-AU X 30908228 30908228 single base substitution G A intron_variant MELA-AU X 30908491 30908491 single base substitution C T intron_variant MELA-AU X 30909126 30909126 single base substitution G A intron_variant MELA-AU X 30909425 30909425 single base substitution G A intron_variant MELA-AU X 30909474 30909474 single base substitution C T intron_variant MELA-AU X 30909766 30909767 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 30910072 30910072 single base substitution C T intron_variant MELA-AU X 30910635 30910635 single base substitution T A intron_variant MELA-AU X 30911334 30911334 single base substitution T C intron_variant MELA-AU X 30911356 30911356 single base substitution C T intron_variant MELA-AU X 30911794 30911794 single base substitution G A intron_variant MELA-AU X 30911979 30911979 single base substitution C T intron_variant MELA-AU X 30912445 30912445 single base substitution G A intron_variant MELA-AU X 30912887 30912887 single base substitution C T intron_variant MELA-AU X 30913107 30913107 single base substitution C T intron_variant MELA-AU X 30913399 30913399 single base substitution G A intron_variant MELA-AU X 30913423 30913423 single base substitution G A intron_variant MELA-AU X 30913650 30913650 single base substitution G A intron_variant MELA-AU X 30913814 30913814 single base substitution G A intron_variant MELA-AU X 30913968 30913968 single base substitution A G intron_variant MELA-AU X 30914046 30914046 single base substitution G A intron_variant MELA-AU X 30915243 30915243 single base substitution G A intron_variant MELA-AU X 30915536 30915536 single base substitution G A intron_variant MELA-AU X 30915546 30915546 single base substitution C T intron_variant MELA-AU X 30915682 30915682 single base substitution C T intron_variant MELA-AU X 30916144 30916144 single base substitution C T intron_variant MELA-AU X 30916448 30916448 single base substitution C T intron_variant MELA-AU X 30916611 30916611 single base substitution C T intron_variant MELA-AU X 30916761 30916761 single base substitution G A intron_variant MELA-AU X 30917165 30917165 single base substitution G A intron_variant MELA-AU X 30917375 30917375 single base substitution G A intron_variant MELA-AU X 30917630 30917630 single base substitution G A intron_variant MELA-AU X 30918334 30918334 single base substitution C T intron_variant MELA-AU X 30918391 30918391 single base substitution G A intron_variant MELA-AU X 30918563 30918563 single base substitution G A intron_variant MELA-AU X 30919037 30919037 single base substitution C T intron_variant MELA-AU X 30919057 30919057 single base substitution C T intron_variant MELA-AU X 30919591 30919591 single base substitution C T intron_variant MELA-AU X 30919745 30919745 single base substitution C A intron_variant MELA-AU X 30919990 30919990 single base substitution C T intron_variant MELA-AU X 30920042 30920042 single base substitution C T intron_variant MELA-AU X 30920051 30920051 single base substitution G A intron_variant MELA-AU X 30920080 30920080 single base substitution T C intron_variant MELA-AU X 30920182 30920182 single base substitution T C intron_variant MELA-AU X 30920615 30920615 single base substitution C T intron_variant MELA-AU X 30921831 30921831 single base substitution T A intron_variant MELA-AU X 30921882 30921882 single base substitution G C intron_variant MELA-AU X 30921901 30921901 single base substitution C T intron_variant MELA-AU X 30922004 30922004 single base substitution A G intron_variant MELA-AU X 30923335 30923335 single base substitution G A intron_variant MELA-AU X 30924731 30924731 single base substitution A G intron_variant MELA-AU X 30924740 30924740 single base substitution C T intron_variant MELA-AU X 30925254 30925254 single base substitution G A intron_variant MELA-AU X 30925262 30925262 single base substitution T A intron_variant MELA-AU X 30925263 30925263 single base substitution C T intron_variant MELA-AU X 30925628 30925628 single base substitution G A intron_variant MELA-AU X 30925719 30925719 single base substitution C T intron_variant MELA-AU X 30925782 30925782 single base substitution G A intron_variant MELA-AU X 30925961 30925961 single base substitution A G intron_variant MELA-AU X 30926009 30926009 single base substitution C T intron_variant MELA-AU X 30926071 30926071 single base substitution A G intron_variant MELA-AU X 30926336 30926336 single base substitution A T intron_variant MELA-AU X 30926422 30926422 single base substitution G A intron_variant MELA-AU X 30926570 30926570 single base substitution T A intron_variant MELA-AU X 30926578 30926578 single base substitution C T intron_variant MELA-AU X 30926587 30926587 single base substitution C T intron_variant MELA-AU X 30926628 30926628 single base substitution C T intron_variant MELA-AU X 30927526 30927526 single base substitution G A intron_variant MELA-AU X 30927528 30927528 single base substitution G A intron_variant MELA-AU X 30927700 30927700 single base substitution G A intron_variant MELA-AU X 30928918 30928918 single base substitution G A intron_variant MELA-AU X 30928970 30928970 single base substitution A T intron_variant MELA-AU X 30929067 30929067 single base substitution G A intron_variant MELA-AU X 30929561 30929561 single base substitution G A intron_variant MELA-AU X 30930371 30930371 single base substitution G T intron_variant MELA-AU X 30930638 30930638 single base substitution G A intron_variant MELA-AU X 30930803 30930803 single base substitution C T intron_variant MELA-AU X 30931325 30931325 single base substitution G A intron_variant MELA-AU X 30932514 30932514 single base substitution C T intron_variant MELA-AU X 30932520 30932520 single base substitution G A intron_variant MELA-AU X 30932970 30932970 single base substitution C T intron_variant MELA-AU X 30933532 30933532 single base substitution C T intron_variant MELA-AU X 30933885 30933885 single base substitution C T intron_variant MELA-AU X 30934558 30934558 single base substitution A G intron_variant MELA-AU X 30934776 30934776 single base substitution G A intron_variant MELA-AU X 30936075 30936075 single base substitution T C intron_variant MELA-AU X 30936196 30936196 single base substitution G A intron_variant MELA-AU X 30937772 30937772 single base substitution C T intron_variant MELA-AU X 30938075 30938075 single base substitution G A intron_variant MELA-AU X 30938115 30938115 single base substitution C T intron_variant MELA-AU X 30938302 30938302 single base substitution C T intron_variant MELA-AU X 30938425 30938425 single base substitution C T intron_variant MELA-AU X 30938801 30938801 single base substitution C T intron_variant MELA-AU X 30938802 30938802 single base substitution C T intron_variant MELA-AU X 30938955 30938955 single base substitution G A intron_variant MELA-AU X 30939036 30939036 single base substitution C T intron_variant MELA-AU X 30939217 30939217 single base substitution G A intron_variant MELA-AU X 30939826 30939826 single base substitution G A intron_variant MELA-AU X 30939927 30939928 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 30940284 30940284 single base substitution G A intron_variant MELA-AU X 30940487 30940487 single base substitution A G intron_variant MELA-AU X 30940595 30940595 single base substitution C T intron_variant MELA-AU X 30940822 30940822 single base substitution G A intron_variant MELA-AU X 30940874 30940874 single base substitution G A intron_variant MELA-AU X 30941319 30941319 single base substitution T C intron_variant MELA-AU X 30941416 30941416 single base substitution C T intron_variant MELA-AU X 30941853 30941853 single base substitution G A intron_variant MELA-AU X 30941931 30941931 single base substitution C T intron_variant MELA-AU X 30941957 30941957 single base substitution C T intron_variant MELA-AU X 30942094 30942094 single base substitution G A intron_variant MELA-AU X 30942127 30942127 single base substitution C T intron_variant MELA-AU X 30942450 30942450 single base substitution G A intron_variant MELA-AU X 30942710 30942710 single base substitution G A intron_variant MELA-AU X 30943218 30943218 single base substitution G A intron_variant MELA-AU X 30943318 30943318 single base substitution C T intron_variant MELA-AU X 30943705 30943705 single base substitution C T intron_variant MELA-AU X 30944349 30944349 single base substitution G A intron_variant MELA-AU X 30944772 30944772 single base substitution G A intron_variant MELA-AU X 30944915 30944915 single base substitution C T intron_variant MELA-AU X 30944925 30944925 single base substitution C T intron_variant MELA-AU X 30945097 30945097 single base substitution C T intron_variant MELA-AU X 30945298 30945298 single base substitution T G intron_variant MELA-AU X 30945712 30945712 single base substitution G A intron_variant MELA-AU X 30946166 30946166 single base substitution C T intron_variant MELA-AU X 30946193 30946193 single base substitution G A intron_variant MELA-AU X 30946283 30946283 single base substitution C T intron_variant MELA-AU X 30946308 30946308 single base substitution C T intron_variant MELA-AU X 30946681 30946681 single base substitution C T intron_variant MELA-AU X 30946961 30946961 single base substitution G A intron_variant MELA-AU X 30947092 30947092 single base substitution G A intron_variant MELA-AU X 30947114 30947114 single base substitution C T intron_variant MELA-AU X 30947233 30947233 single base substitution A T intron_variant MELA-AU X 30947963 30947963 single base substitution G A intron_variant MELA-AU X 30948910 30948910 single base substitution C T intron_variant MELA-AU X 30949617 30949617 single base substitution C T intron_variant MELA-AU X 30949638 30949638 single base substitution G A intron_variant MELA-AU X 30950202 30950202 single base substitution C T intron_variant MELA-AU X 30950696 30950696 single base substitution G A intron_variant MELA-AU X 30951189 30951189 single base substitution A G intron_variant MELA-AU X 30951367 30951367 single base substitution A C intron_variant MELA-AU X 30951370 30951370 single base substitution C T intron_variant MELA-AU X 30951676 30951676 single base substitution G A intron_variant MELA-AU X 30951908 30951908 single base substitution G A intron_variant MELA-AU X 30951937 30951937 single base substitution C T intron_variant MELA-AU X 30952688 30952688 single base substitution T G intron_variant MELA-AU X 30953464 30953464 single base substitution G A intron_variant MELA-AU X 30953562 30953562 single base substitution G A intron_variant MELA-AU X 30953646 30953646 single base substitution G A intron_variant MELA-AU X 30953879 30953879 single base substitution G A intron_variant MELA-AU X 30954255 30954255 single base substitution G T intron_variant MELA-AU X 30954651 30954651 single base substitution A G intron_variant MELA-AU X 30955852 30955852 single base substitution T C intron_variant MELA-AU X 30956109 30956109 single base substitution G A intron_variant MELA-AU X 30956272 30956272 single base substitution G A intron_variant MELA-AU X 30956318 30956318 single base substitution C T intron_variant MELA-AU X 30957636 30957636 single base substitution G A intron_variant MELA-AU X 30957658 30957658 single base substitution G A intron_variant MELA-AU X 30957948 30957948 single base substitution G A intron_variant MELA-AU X 30958072 30958072 single base substitution T C intron_variant MELA-AU X 30958730 30958730 single base substitution C T intron_variant MELA-AU X 30959000 30959000 single base substitution C T intron_variant MELA-AU X 30959686 30959686 single base substitution G A intron_variant MELA-AU X 30959872 30959872 single base substitution C T intron_variant MELA-AU X 30960797 30960797 single base substitution C T intron_variant MELA-AU X 30960800 30960800 single base substitution G A intron_variant MELA-AU X 30961081 30961081 single base substitution G A intron_variant MELA-AU X 30961682 30961682 single base substitution G A intron_variant MELA-AU X 30961991 30961991 single base substitution G A intron_variant MELA-AU X 30962428 30962428 single base substitution G A intron_variant MELA-AU X 30962705 30962705 single base substitution C T intron_variant MELA-AU X 30962767 30962767 single base substitution A G intron_variant MELA-AU X 30962890 30962890 single base substitution G A intron_variant MELA-AU X 30963096 30963096 single base substitution C A intron_variant MELA-AU X 30963177 30963177 single base substitution C T intron_variant MELA-AU X 30963200 30963200 single base substitution C T intron_variant MELA-AU X 30963305 30963305 single base substitution C T intron_variant MELA-AU X 30963551 30963551 single base substitution G A intron_variant MELA-AU X 30963834 30963834 single base substitution G A intron_variant MELA-AU X 30963897 30963897 single base substitution G A intron_variant MELA-AU X 30964188 30964188 single base substitution G A intron_variant MELA-AU X 30964800 30964800 single base substitution C T intron_variant MELA-AU X 30964809 30964809 single base substitution G A intron_variant MELA-AU X 30965027 30965027 single base substitution G A intron_variant MELA-AU X 30965135 30965135 single base substitution G A intron_variant MELA-AU X 30965161 30965162 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 30965387 30965387 single base substitution G A intron_variant MELA-AU X 30965633 30965633 single base substitution C T intron_variant MELA-AU X 30965643 30965643 single base substitution C T intron_variant MELA-AU X 30965839 30965839 single base substitution C T intron_variant MELA-AU X 30965972 30965972 single base substitution G A intron_variant MELA-AU X 30965988 30965988 single base substitution A G intron_variant MELA-AU X 30966005 30966005 single base substitution A G intron_variant MELA-AU X 30966117 30966117 single base substitution C T intron_variant MELA-AU X 30966831 30966831 single base substitution C T intron_variant MELA-AU X 30967474 30967474 single base substitution C T intron_variant MELA-AU X 30967560 30967560 single base substitution G A intron_variant MELA-AU X 30967579 30967579 single base substitution A C intron_variant MELA-AU X 30967856 30967857 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 30968409 30968409 single base substitution G A intron_variant MELA-AU X 30968590 30968590 single base substitution G A intron_variant MELA-AU X 30968595 30968595 single base substitution C T intron_variant MELA-AU X 30968693 30968693 single base substitution C T intron_variant MELA-AU X 30968949 30968949 single base substitution G A intron_variant MELA-AU X 30969092 30969092 single base substitution C T intron_variant MELA-AU X 30969199 30969199 single base substitution G A intron_variant MELA-AU X 30969220 30969220 single base substitution G A intron_variant MELA-AU X 30969811 30969811 single base substitution G A intron_variant MELA-AU X 30969859 30969859 single base substitution G A intron_variant MELA-AU X 30970280 30970280 single base substitution G A intron_variant MELA-AU X 30970364 30970364 single base substitution T A intron_variant MELA-AU X 30970488 30970488 single base substitution A G intron_variant MELA-AU X 30970621 30970621 single base substitution G A intron_variant MELA-AU X 30971136 30971136 single base substitution C T intron_variant MELA-AU X 30971188 30971188 single base substitution C T intron_variant MELA-AU X 30971235 30971235 single base substitution C T intron_variant MELA-AU X 30971489 30971489 single base substitution C T intron_variant MELA-AU X 30971580 30971580 single base substitution C T intron_variant MELA-AU X 30971585 30971585 single base substitution G A intron_variant MELA-AU X 30971934 30971934 single base substitution C T intron_variant MELA-AU X 30972067 30972067 single base substitution G A intron_variant MELA-AU X 30972179 30972180 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 30972381 30972381 single base substitution C T intron_variant MELA-AU X 30972499 30972499 single base substitution G A intron_variant MELA-AU X 30973438 30973438 single base substitution T A intron_variant MELA-AU X 30973493 30973493 single base substitution C T intron_variant MELA-AU X 30974361 30974361 single base substitution A T intron_variant MELA-AU X 30974657 30974657 single base substitution T A intron_variant MELA-AU X 30975111 30975111 single base substitution C T intron_variant MELA-AU X 30975182 30975182 single base substitution G A intron_variant MELA-AU X 30975352 30975352 single base substitution C T intron_variant MELA-AU X 30975466 30975466 single base substitution C T intron_variant MELA-AU X 30975574 30975574 single base substitution C T intron_variant MELA-AU X 30975891 30975891 single base substitution C T intron_variant MELA-AU X 30975894 30975894 single base substitution C T intron_variant MELA-AU X 30976270 30976270 single base substitution G A intron_variant MELA-AU X 30976605 30976605 single base substitution G A intron_variant MELA-AU X 30976762 30976762 single base substitution A T intron_variant MELA-AU X 30977179 30977179 single base substitution C T intron_variant MELA-AU X 30977194 30977194 single base substitution C T intron_variant MELA-AU X 30977386 30977386 single base substitution C T intron_variant MELA-AU X 30977517 30977517 single base substitution G A intron_variant MELA-AU X 30978079 30978079 single base substitution G A intron_variant MELA-AU X 30978149 30978149 single base substitution C T intron_variant MELA-AU X 30978640 30978640 single base substitution G A intron_variant MELA-AU X 30978923 30978923 single base substitution G A intron_variant MELA-AU X 30979128 30979128 single base substitution G A intron_variant MELA-AU X 30979268 30979268 single base substitution C T intron_variant MELA-AU X 30979292 30979292 single base substitution G A intron_variant MELA-AU X 30979357 30979357 single base substitution C T intron_variant MELA-AU X 30979364 30979364 single base substitution C T intron_variant MELA-AU X 30979986 30979986 single base substitution G A intron_variant MELA-AU X 30980020 30980020 single base substitution C T intron_variant MELA-AU X 30980090 30980090 single base substitution C T intron_variant MELA-AU X 30980107 30980107 single base substitution C T intron_variant MELA-AU X 30980241 30980241 single base substitution C T intron_variant MELA-AU X 30980474 30980474 single base substitution C T intron_variant MELA-AU X 30980608 30980608 single base substitution C T intron_variant MELA-AU X 30980631 30980631 single base substitution C T intron_variant MELA-AU X 30981494 30981494 single base substitution G A intron_variant MELA-AU X 30981836 30981836 single base substitution G A intron_variant MELA-AU X 30982262 30982262 single base substitution A C intron_variant MELA-AU X 30982438 30982438 single base substitution A T intron_variant MELA-AU X 30982648 30982648 single base substitution C T intron_variant MELA-AU X 30982657 30982657 single base substitution G A intron_variant MELA-AU X 30982987 30982987 single base substitution C T intron_variant MELA-AU X 30983079 30983079 single base substitution C T intron_variant MELA-AU X 30983494 30983494 single base substitution G T intron_variant MELA-AU X 30984123 30984123 single base substitution G A intron_variant MELA-AU X 30984124 30984124 single base substitution G A intron_variant MELA-AU X 30984353 30984353 single base substitution A G intron_variant MELA-AU X 30984492 30984492 single base substitution A G intron_variant MELA-AU X 30985135 30985135 single base substitution G A intron_variant MELA-AU X 30985207 30985207 single base substitution G A intron_variant MELA-AU X 30985794 30985812 deletion of <=200bp CATTAATGAAAGCAAGTCA - intron_variant MELA-AU X 30985945 30985945 single base substitution C T intron_variant MELA-AU X 30986419 30986419 single base substitution C T intron_variant MELA-AU X 30986635 30986635 single base substitution T C intron_variant MELA-AU X 30986743 30986743 single base substitution C T intron_variant MELA-AU X 30987019 30987019 single base substitution G A intron_variant MELA-AU X 30987037 30987037 single base substitution G A intron_variant MELA-AU X 30987702 30987702 single base substitution C T intron_variant MELA-AU X 30988364 30988364 single base substitution C T intron_variant MELA-AU X 30988814 30988814 single base substitution G A intron_variant MELA-AU X 30988950 30988950 single base substitution C T intron_variant MELA-AU X 30988998 30988998 single base substitution G A intron_variant MELA-AU X 30990219 30990219 single base substitution C T intron_variant MELA-AU X 30990819 30990819 single base substitution C T intron_variant MELA-AU X 30991474 30991474 single base substitution C T intron_variant MELA-AU X 30991663 30991663 deletion of <=200bp C - intron_variant MELA-AU X 30992797 30992797 single base substitution G A intron_variant MELA-AU X 30993149 30993149 single base substitution G T 5_prime_UTR_variant MELA-AU X 30993153 30993153 single base substitution T G 5_prime_UTR_variant MELA-AU X 30993348 30993348 single base substitution T G upstream_gene_variant MELA-AU X 30993637 30993637 single base substitution G A upstream_gene_variant MELA-AU X 30994492 30994492 single base substitution C T upstream_gene_variant MELA-AU X 30994969 30994969 single base substitution C T upstream_gene_variant MELA-AU X 30995168 30995168 single base substitution A C upstream_gene_variant MELA-AU X 30996489 30996489 single base substitution G A upstream_gene_variant MELA-AU X 30996988 30996988 single base substitution A G upstream_gene_variant MELA-AU X 30997201 30997201 single base substitution T G upstream_gene_variant MELA-AU X 30997303 30997303 single base substitution C T upstream_gene_variant ORCA-IN X 30858319 30858319 single base substitution T C downstream_gene_variant ORCA-IN X 30858319 30858319 single base substitution T C intron_variant ORCA-IN X 30865398 30865398 single base substitution C G intron_variant ORCA-IN X 30869213 30869213 single base substitution T G intron_variant ORCA-IN X 30870229 30870229 single base substitution C T intron_variant ORCA-IN X 30891100 30891100 single base substitution A C intron_variant ORCA-IN X 30891100 30891100 single base substitution A C upstream_gene_variant ORCA-IN X 30955888 30955888 single base substitution C G intron_variant ORCA-IN X 30984166 30984166 single base substitution C T intron_variant OV-AU X 30840916 30840916 single base substitution A T downstream_gene_variant OV-AU X 30845522 30845522 single base substitution G C downstream_gene_variant OV-AU X 30848417 30848417 single base substitution C G 3_prime_UTR_variant OV-AU X 30848417 30848417 single base substitution C G downstream_gene_variant OV-AU X 30852583 30852583 single base substitution T G downstream_gene_variant OV-AU X 30852583 30852583 single base substitution T G intron_variant OV-AU X 30856124 30856124 single base substitution C T downstream_gene_variant OV-AU X 30856124 30856124 single base substitution C T intron_variant OV-AU X 30864683 30864683 single base substitution G A exon_variant OV-AU X 30864683 30864683 single base substitution G A missense_variant L48F 142C>T OV-AU X 30864683 30864683 single base substitution G A missense_variant L597F 1789C>T OV-AU X 30865811 30865811 single base substitution G T intron_variant OV-AU X 30870855 30870855 single base substitution T A intron_variant OV-AU X 30892513 30892513 single base substitution T A intron_variant OV-AU X 30892513 30892513 single base substitution T A upstream_gene_variant OV-AU X 30894308 30894308 single base substitution G T intron_variant OV-AU X 30894308 30894308 single base substitution G T upstream_gene_variant OV-AU X 30899629 30899629 single base substitution G A intron_variant OV-AU X 30899899 30899899 single base substitution G A intron_variant OV-AU X 30902816 30902816 single base substitution G C intron_variant OV-AU X 30917674 30917674 single base substitution G T intron_variant OV-AU X 30922258 30922258 single base substitution A T intron_variant OV-AU X 30928760 30928760 single base substitution G T intron_variant OV-AU X 30935709 30935709 single base substitution G A intron_variant OV-AU X 30937455 30937455 single base substitution C T intron_variant OV-AU X 30947440 30947440 single base substitution C A intron_variant OV-AU X 30960463 30960463 single base substitution G A intron_variant OV-AU X 30961125 30961125 single base substitution C A intron_variant OV-AU X 30963660 30963660 single base substitution C T intron_variant OV-AU X 30965470 30965470 single base substitution A T intron_variant OV-AU X 30966803 30966803 single base substitution G C intron_variant OV-AU X 30966952 30966952 single base substitution G T intron_variant OV-AU X 30966972 30966972 single base substitution A G intron_variant OV-AU X 30967576 30967576 single base substitution A T intron_variant OV-AU X 30967577 30967577 single base substitution G T intron_variant OV-AU X 30971770 30971770 single base substitution C A intron_variant OV-AU X 30973918 30973918 single base substitution G T intron_variant OV-AU X 30974699 30974699 single base substitution C T intron_variant OV-AU X 30976913 30976913 single base substitution C T intron_variant OV-AU X 30977325 30977325 single base substitution A T intron_variant OV-AU X 30977979 30977979 single base substitution C G intron_variant OV-AU X 30978325 30978325 single base substitution A G intron_variant OV-AU X 30980921 30980921 single base substitution T C intron_variant OV-AU X 30993226 30993226 single base substitution T A upstream_gene_variant OV-AU X 30994089 30994089 single base substitution C T upstream_gene_variant OV-AU X 30994933 30994933 single base substitution T A upstream_gene_variant OV-AU X 30994984 30994984 single base substitution G C upstream_gene_variant PACA-AU X 30843771 30843771 deletion of <=200bp A - downstream_gene_variant PACA-AU X 30847491 30847491 insertion of <=200bp - TA 3_prime_UTR_variant PACA-AU X 30847491 30847491 insertion of <=200bp - TA downstream_gene_variant PACA-AU X 30852282 30852282 single base substitution A T downstream_gene_variant PACA-AU X 30852282 30852282 single base substitution A T intron_variant PACA-AU X 30860074 30860074 single base substitution C T downstream_gene_variant PACA-AU X 30860074 30860074 single base substitution C T intron_variant PACA-AU X 30864750 30864750 single base substitution C G exon_variant PACA-AU X 30864750 30864750 single base substitution C G missense_variant M25I 75G>C PACA-AU X 30864750 30864750 single base substitution C G missense_variant M574I 1722G>C PACA-AU X 30865320 30865320 single base substitution A G intron_variant PACA-AU X 30866204 30866204 deletion of <=200bp G - intron_variant PACA-AU X 30866768 30866768 single base substitution G A intron_variant PACA-AU X 30868163 30868163 single base substitution G T intron_variant PACA-AU X 30872514 30872514 single base substitution C A exon_variant PACA-AU X 30872514 30872514 single base substitution C A missense_variant S423I 1268G>T PACA-AU X 30872514 30872514 single base substitution C A upstream_gene_variant PACA-AU X 30876367 30876367 single base substitution G T intron_variant PACA-AU X 30878773 30878773 single base substitution G T intron_variant PACA-AU X 30878773 30878773 single base substitution G T upstream_gene_variant PACA-AU X 30879071 30879071 deletion of <=200bp A - intron_variant PACA-AU X 30879071 30879071 deletion of <=200bp A - upstream_gene_variant PACA-AU X 30880949 30880949 single base substitution C A intron_variant PACA-AU X 30880949 30880949 single base substitution C A upstream_gene_variant PACA-AU X 30888841 30888841 single base substitution G A intron_variant PACA-AU X 30888841 30888841 single base substitution G A upstream_gene_variant PACA-AU X 30890433 30890433 single base substitution C A intron_variant PACA-AU X 30890433 30890433 single base substitution C A upstream_gene_variant PACA-AU X 30903744 30903744 single base substitution G A intron_variant PACA-AU X 30906259 30906259 single base substitution G T intron_variant PACA-AU X 30908964 30908964 single base substitution G T intron_variant PACA-AU X 30918209 30918209 single base substitution C A intron_variant PACA-AU X 30920490 30920490 single base substitution A T intron_variant PACA-AU X 30923213 30923213 single base substitution A C intron_variant PACA-AU X 30931228 30931228 single base substitution C T intron_variant PACA-AU X 30937585 30937585 single base substitution C A intron_variant PACA-AU X 30937929 30937929 single base substitution A C intron_variant PACA-AU X 30942452 30942452 deletion of <=200bp T - intron_variant PACA-AU X 30945068 30945068 single base substitution G T intron_variant PACA-AU X 30946528 30946528 single base substitution C T intron_variant PACA-AU X 30948524 30948524 single base substitution T G intron_variant PACA-AU X 30950532 30950532 single base substitution T A intron_variant PACA-AU X 30951610 30951611 deletion of <=200bp TG - intron_variant PACA-AU X 30957272 30957272 single base substitution A T intron_variant PACA-AU X 30964555 30964555 single base substitution G T intron_variant PACA-AU X 30964571 30964571 single base substitution T C intron_variant PACA-AU X 30971097 30971097 single base substitution G T intron_variant PACA-AU X 30971182 30971182 single base substitution T C intron_variant PACA-AU X 30971729 30971729 single base substitution C T intron_variant PACA-AU X 30974096 30974096 single base substitution A T intron_variant PACA-AU X 30975218 30975218 single base substitution T A intron_variant PACA-AU X 30981424 30981424 single base substitution C A intron_variant PACA-AU X 30983414 30983414 single base substitution C T intron_variant PACA-AU X 30995329 30995329 single base substitution T A upstream_gene_variant PACA-AU X 30995487 30995487 single base substitution A G upstream_gene_variant PACA-AU X 30995910 30995910 single base substitution T A upstream_gene_variant PACA-AU X 30996983 30996983 single base substitution A G upstream_gene_variant PACA-CA X 30841290 30841290 single base substitution C T downstream_gene_variant PACA-CA X 30841967 30841967 single base substitution C T downstream_gene_variant PACA-CA X 30847490 30847490 insertion of <=200bp - TA 3_prime_UTR_variant PACA-CA X 30847490 30847490 insertion of <=200bp - TA downstream_gene_variant PACA-CA X 30853867 30853867 single base substitution A C 3_prime_UTR_variant PACA-CA X 30853867 30853867 single base substitution A C intron_variant PACA-CA X 30859475 30859475 single base substitution T A downstream_gene_variant PACA-CA X 30859475 30859475 single base substitution T A intron_variant PACA-CA X 30860215 30860215 single base substitution A C downstream_gene_variant PACA-CA X 30860215 30860215 single base substitution A C intron_variant PACA-CA X 30869876 30869876 single base substitution G C intron_variant PACA-CA X 30870453 30870453 single base substitution T C intron_variant PACA-CA X 30883441 30883441 single base substitution G A intron_variant PACA-CA X 30884734 30884734 single base substitution A C intron_variant PACA-CA X 30886255 30886255 single base substitution C A intron_variant PACA-CA X 30886255 30886255 single base substitution C A upstream_gene_variant PACA-CA X 30890302 30890302 single base substitution G C intron_variant PACA-CA X 30890302 30890302 single base substitution G C upstream_gene_variant PACA-CA X 30890440 30890440 single base substitution G A intron_variant PACA-CA X 30890440 30890440 single base substitution G A upstream_gene_variant PACA-CA X 30895111 30895111 single base substitution G C intron_variant PACA-CA X 30895182 30895182 single base substitution A C intron_variant PACA-CA X 30899475 30899475 single base substitution G T intron_variant PACA-CA X 30902815 30902815 single base substitution A T intron_variant PACA-CA X 30904515 30904515 single base substitution A C intron_variant PACA-CA X 30910754 30910754 single base substitution T C intron_variant PACA-CA X 30918231 30918231 deletion of <=200bp A - intron_variant PACA-CA X 30922519 30922519 single base substitution T C intron_variant PACA-CA X 30926061 30926061 single base substitution G A intron_variant PACA-CA X 30926070 30926070 single base substitution T G intron_variant PACA-CA X 30931957 30931957 single base substitution C T intron_variant PACA-CA X 30934295 30934295 single base substitution T C intron_variant PACA-CA X 30935019 30935019 single base substitution A G intron_variant PACA-CA X 30935395 30935395 single base substitution C T intron_variant PACA-CA X 30935741 30935741 single base substitution C G intron_variant PACA-CA X 30940230 30940230 single base substitution C A intron_variant PACA-CA X 30942788 30942788 single base substitution T C intron_variant PACA-CA X 30948855 30948855 single base substitution G A intron_variant PACA-CA X 30950958 30950958 single base substitution C G intron_variant PACA-CA X 30950976 30950976 single base substitution T C intron_variant PACA-CA X 30951116 30951116 single base substitution C G intron_variant PACA-CA X 30953022 30953022 single base substitution C A intron_variant PACA-CA X 30953498 30953498 single base substitution C T intron_variant PACA-CA X 30954875 30954875 single base substitution T A intron_variant PACA-CA X 30955757 30955757 single base substitution T G intron_variant PACA-CA X 30955974 30955974 single base substitution C T intron_variant PACA-CA X 30956276 30956276 single base substitution A C intron_variant PACA-CA X 30956433 30956433 single base substitution G C intron_variant PACA-CA X 30956972 30956972 single base substitution A C intron_variant PACA-CA X 30959100 30959100 single base substitution C T intron_variant PACA-CA X 30959580 30959580 single base substitution A T intron_variant PACA-CA X 30959581 30959581 single base substitution T A intron_variant PACA-CA X 30963911 30963911 single base substitution A G intron_variant PACA-CA X 30976743 30976743 single base substitution G A intron_variant PACA-CA X 30976947 30976947 single base substitution C T intron_variant PACA-CA X 30977995 30977995 single base substitution C T intron_variant PACA-CA X 30979857 30979857 single base substitution C T intron_variant PACA-CA X 30980751 30980751 single base substitution T C intron_variant PACA-CA X 30990006 30990006 single base substitution G A intron_variant PACA-CA X 30991369 30991369 insertion of <=200bp - AG intron_variant PACA-CA X 30992104 30992104 single base substitution T G intron_variant PACA-CA X 30992206 30992206 insertion of <=200bp - A intron_variant PAEN-AU X 30896408 30896408 single base substitution G A intron_variant PAEN-AU X 30947033 30947033 single base substitution T C intron_variant PAEN-AU X 30952668 30952668 single base substitution T A intron_variant PAEN-AU X 30961095 30961095 single base substitution C A intron_variant PAEN-AU X 30974469 30974469 single base substitution G A intron_variant PAEN-AU X 30977382 30977382 single base substitution C A intron_variant PAEN-IT X 30907246 30907246 single base substitution C T intron_variant PAEN-IT X 30965370 30965370 single base substitution T A intron_variant PAEN-IT X 30980684 30980684 single base substitution G C intron_variant PAEN-IT X 30994414 30994414 single base substitution T G upstream_gene_variant PBCA-DE X 30841688 30841688 single base substitution G T downstream_gene_variant PBCA-DE X 30841834 30841834 single base substitution T A downstream_gene_variant PBCA-DE X 30843823 30843823 single base substitution G A downstream_gene_variant PBCA-DE X 30847491 30847491 insertion of <=200bp - TA 3_prime_UTR_variant PBCA-DE X 30847491 30847491 insertion of <=200bp - TA downstream_gene_variant PBCA-DE X 30851804 30851804 single base substitution C T downstream_gene_variant PBCA-DE X 30851804 30851804 single base substitution C T intron_variant PBCA-DE X 30858564 30858564 single base substitution T A downstream_gene_variant PBCA-DE X 30858564 30858564 single base substitution T A intron_variant PBCA-DE X 30861223 30861223 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE X 30861223 30861223 insertion of <=200bp - T intron_variant PBCA-DE X 30863677 30863677 single base substitution G T 3_prime_UTR_variant PBCA-DE X 30863677 30863677 single base substitution G T intron_variant PBCA-DE X 30885438 30885438 single base substitution C T intron_variant PBCA-DE X 30885438 30885438 single base substitution C T upstream_gene_variant PBCA-DE X 30885439 30885439 single base substitution G A intron_variant PBCA-DE X 30885439 30885439 single base substitution G A upstream_gene_variant PBCA-DE X 30897183 30897183 single base substitution T C intron_variant PBCA-DE X 30898191 30898191 single base substitution T A intron_variant PBCA-DE X 30907563 30907563 single base substitution G A intron_variant PBCA-DE X 30927245 30927245 single base substitution G A intron_variant PBCA-DE X 30927862 30927877 deletion of <=200bp TCAAAAAATAAAATGC - intron_variant PBCA-DE X 30931766 30931767 deletion of <=200bp GT - intron_variant PBCA-DE X 30933086 30933086 single base substitution A T intron_variant PBCA-DE X 30933714 30933714 deletion of <=200bp A - intron_variant PBCA-DE X 30936536 30936536 single base substitution T C intron_variant PBCA-DE X 30941295 30941295 single base substitution A G intron_variant PBCA-DE X 30942148 30942148 insertion of <=200bp - A intron_variant PBCA-DE X 30943388 30943388 single base substitution A T intron_variant PBCA-DE X 30948092 30948092 single base substitution G A intron_variant PBCA-DE X 30948491 30948491 single base substitution A G intron_variant PBCA-DE X 30956313 30956313 single base substitution C T intron_variant PBCA-DE X 30957300 30957300 single base substitution G A intron_variant PBCA-DE X 30960095 30960095 single base substitution A T intron_variant PBCA-DE X 30962009 30962009 single base substitution G A intron_variant PBCA-DE X 30964535 30964535 single base substitution G A intron_variant PBCA-DE X 30979628 30979628 single base substitution T A intron_variant PBCA-DE X 30981340 30981340 single base substitution A T intron_variant PBCA-DE X 30984746 30984746 single base substitution G A intron_variant PBCA-DE X 30989350 30989350 single base substitution T C intron_variant PBCA-DE X 30991260 30991260 single base substitution T A intron_variant PBCA-DE X 30996938 30996938 single base substitution C G upstream_gene_variant PRAD-CA X 30852070 30852070 single base substitution A G downstream_gene_variant PRAD-CA X 30852070 30852070 single base substitution A G intron_variant PRAD-CA X 30910988 30910988 single base substitution T G intron_variant PRAD-CA X 30936556 30936556 single base substitution A G intron_variant PRAD-CA X 30954229 30954229 single base substitution G A intron_variant PRAD-CA X 30961863 30961863 single base substitution G A intron_variant PRAD-CA X 30969597 30969597 single base substitution G T intron_variant PRAD-CA X 30988270 30988270 single base substitution G C intron_variant PRAD-UK X 30844627 30844627 single base substitution G T downstream_gene_variant PRAD-UK X 30891393 30891393 single base substitution G A intron_variant PRAD-UK X 30891393 30891393 single base substitution G A upstream_gene_variant PRAD-UK X 30916287 30916287 single base substitution A G intron_variant PRAD-UK X 30933869 30933869 single base substitution A T intron_variant PRAD-UK X 30956451 30956451 single base substitution T C intron_variant PRAD-UK X 30976264 30976264 single base substitution G A intron_variant PRAD-UK X 30977141 30977141 single base substitution T C intron_variant PRAD-UK X 30980643 30980643 single base substitution C G intron_variant PRAD-UK X 30988146 30988146 single base substitution C T intron_variant PRAD-UK X 30997902 30997902 single base substitution C T upstream_gene_variant READ-US X 30849636 30849636 single base substitution C T downstream_gene_variant READ-US X 30849636 30849636 single base substitution C T missense_variant E655K 1963G>A READ-US X 30849636 30849636 single base substitution C T missense_variant E683K 2047G>A READ-US X 30877657 30877657 single base substitution G A exon_variant READ-US X 30877657 30877657 single base substitution G A stop_gained R17* 49C>T RECA-EU X 30843851 30843851 single base substitution G A downstream_gene_variant RECA-EU X 30851322 30851322 single base substitution G A downstream_gene_variant RECA-EU X 30851322 30851322 single base substitution G A intron_variant RECA-EU X 30853832 30853832 single base substitution A G 3_prime_UTR_variant RECA-EU X 30853832 30853832 single base substitution A G intron_variant RECA-EU X 30858436 30858436 single base substitution T G downstream_gene_variant RECA-EU X 30858436 30858436 single base substitution T G intron_variant RECA-EU X 30890160 30890160 single base substitution A T intron_variant RECA-EU X 30890160 30890160 single base substitution A T upstream_gene_variant RECA-EU X 30896633 30896633 single base substitution A G intron_variant RECA-EU X 30913804 30913804 single base substitution G A intron_variant RECA-EU X 30913809 30913809 single base substitution T A intron_variant RECA-EU X 30958445 30958445 single base substitution T G intron_variant RECA-EU X 30977510 30977510 single base substitution C T intron_variant RECA-EU X 30978612 30978612 single base substitution A T intron_variant RECA-EU X 30978698 30978698 single base substitution T A intron_variant RECA-EU X 30988064 30988064 single base substitution T C intron_variant RECA-EU X 30992864 30992864 single base substitution G A intron_variant SKCA-BR X 30841150 30841150 single base substitution C T downstream_gene_variant SKCA-BR X 30841306 30841306 single base substitution T G downstream_gene_variant SKCA-BR X 30841334 30841334 single base substitution C T downstream_gene_variant SKCA-BR X 30844642 30844642 single base substitution G A downstream_gene_variant SKCA-BR X 30847957 30847957 single base substitution T G 3_prime_UTR_variant SKCA-BR X 30847957 30847957 single base substitution T G downstream_gene_variant SKCA-BR X 30848023 30848023 single base substitution G A 3_prime_UTR_variant SKCA-BR X 30848023 30848023 single base substitution G A downstream_gene_variant SKCA-BR X 30848956 30848956 single base substitution G C 3_prime_UTR_variant SKCA-BR X 30848956 30848956 single base substitution G C downstream_gene_variant SKCA-BR X 30849714 30849714 single base substitution G A downstream_gene_variant SKCA-BR X 30849714 30849714 single base substitution G A intron_variant SKCA-BR X 30852726 30852726 single base substitution G A downstream_gene_variant SKCA-BR X 30852726 30852726 single base substitution G A intron_variant SKCA-BR X 30855138 30855138 single base substitution G A intron_variant SKCA-BR X 30860275 30860275 single base substitution G A downstream_gene_variant SKCA-BR X 30860275 30860275 single base substitution G A intron_variant SKCA-BR X 30861342 30861342 single base substitution G A 3_prime_UTR_variant SKCA-BR X 30861342 30861342 single base substitution G A intron_variant SKCA-BR X 30862988 30862988 single base substitution G A 3_prime_UTR_variant SKCA-BR X 30862988 30862988 single base substitution G A intron_variant SKCA-BR X 30865976 30865976 single base substitution T C intron_variant SKCA-BR X 30868336 30868336 single base substitution G A intron_variant SKCA-BR X 30873103 30873103 single base substitution G A exon_variant SKCA-BR X 30873103 30873103 single base substitution G A missense_variant P227S 679C>T SKCA-BR X 30873103 30873103 single base substitution G A upstream_gene_variant SKCA-BR X 30875523 30875523 single base substitution G A intron_variant SKCA-BR X 30875523 30875523 single base substitution G A upstream_gene_variant SKCA-BR X 30875561 30875561 single base substitution T A intron_variant SKCA-BR X 30875561 30875561 single base substitution T A upstream_gene_variant SKCA-BR X 30876276 30876276 single base substitution G A intron_variant SKCA-BR X 30878466 30878466 single base substitution G A intron_variant SKCA-BR X 30878466 30878466 single base substitution G A upstream_gene_variant SKCA-BR X 30880429 30880429 single base substitution C T intron_variant SKCA-BR X 30880429 30880429 single base substitution C T upstream_gene_variant SKCA-BR X 30884935 30884935 single base substitution G A intron_variant SKCA-BR X 30884987 30884987 insertion of <=200bp - TAAA intron_variant SKCA-BR X 30885344 30885344 single base substitution G A intron_variant SKCA-BR X 30885344 30885344 single base substitution G A upstream_gene_variant SKCA-BR X 30885381 30885381 single base substitution G A intron_variant SKCA-BR X 30885381 30885381 single base substitution G A upstream_gene_variant SKCA-BR X 30886486 30886489 deletion of <=200bp AGCT - intron_variant SKCA-BR X 30886486 30886489 deletion of <=200bp AGCT - upstream_gene_variant SKCA-BR X 30886518 30886519 deletion of <=200bp AT - intron_variant SKCA-BR X 30886518 30886519 deletion of <=200bp AT - upstream_gene_variant SKCA-BR X 30886555 30886555 insertion of <=200bp - TTA intron_variant SKCA-BR X 30886555 30886555 insertion of <=200bp - TTA upstream_gene_variant SKCA-BR X 30886734 30886736 deletion of <=200bp AGC - intron_variant SKCA-BR X 30886734 30886736 deletion of <=200bp AGC - upstream_gene_variant SKCA-BR X 30887897 30887897 single base substitution A C intron_variant SKCA-BR X 30887897 30887897 single base substitution A C upstream_gene_variant SKCA-BR X 30888655 30888655 single base substitution G A intron_variant SKCA-BR X 30888655 30888655 single base substitution G A upstream_gene_variant SKCA-BR X 30888981 30888981 single base substitution T C intron_variant SKCA-BR X 30888981 30888981 single base substitution T C upstream_gene_variant SKCA-BR X 30891789 30891789 single base substitution C T intron_variant SKCA-BR X 30891789 30891789 single base substitution C T upstream_gene_variant SKCA-BR X 30893302 30893302 single base substitution A T intron_variant SKCA-BR X 30893302 30893302 single base substitution A T upstream_gene_variant SKCA-BR X 30893519 30893519 single base substitution G A intron_variant SKCA-BR X 30893519 30893519 single base substitution G A upstream_gene_variant SKCA-BR X 30900875 30900875 single base substitution G A intron_variant SKCA-BR X 30904000 30904000 single base substitution G A intron_variant SKCA-BR X 30909227 30909227 single base substitution C T intron_variant SKCA-BR X 30909793 30909793 single base substitution C A intron_variant SKCA-BR X 30913320 30913320 single base substitution C T intron_variant SKCA-BR X 30917219 30917219 single base substitution C T 5_prime_UTR_variant SKCA-BR X 30921889 30921889 single base substitution A T intron_variant SKCA-BR X 30926131 30926133 deletion of <=200bp GTA - intron_variant SKCA-BR X 30926153 30926177 deletion of <=200bp GTGTATATATATATATATATATATA - intron_variant SKCA-BR X 30928828 30928828 single base substitution C T intron_variant SKCA-BR X 30938115 30938115 single base substitution C T intron_variant SKCA-BR X 30942303 30942313 deletion of <=200bp AAAAATAAAAT - intron_variant SKCA-BR X 30944632 30944632 single base substitution G A intron_variant SKCA-BR X 30947416 30947416 insertion of <=200bp - TAC intron_variant SKCA-BR X 30947416 30947418 deletion of <=200bp TAC - intron_variant SKCA-BR X 30948368 30948369 deletion of <=200bp AT - intron_variant SKCA-BR X 30950691 30950691 single base substitution G A intron_variant SKCA-BR X 30951815 30951815 single base substitution A G intron_variant SKCA-BR X 30954869 30954869 single base substitution G A intron_variant SKCA-BR X 30955396 30955396 single base substitution C T intron_variant SKCA-BR X 30960234 30960234 single base substitution C T intron_variant SKCA-BR X 30960406 30960406 single base substitution C T intron_variant SKCA-BR X 30961099 30961099 single base substitution C T intron_variant SKCA-BR X 30962567 30962567 single base substitution G A intron_variant SKCA-BR X 30963475 30963475 single base substitution G A intron_variant SKCA-BR X 30965846 30965846 single base substitution C T intron_variant SKCA-BR X 30966671 30966671 single base substitution T C intron_variant SKCA-BR X 30967622 30967622 single base substitution C T intron_variant SKCA-BR X 30967699 30967699 single base substitution C T intron_variant SKCA-BR X 30969144 30969144 single base substitution G A intron_variant SKCA-BR X 30971585 30971585 single base substitution G A intron_variant SKCA-BR X 30973277 30973277 single base substitution C A intron_variant SKCA-BR X 30976351 30976351 single base substitution C T intron_variant SKCA-BR X 30976532 30976532 single base substitution C T intron_variant SKCA-BR X 30978093 30978093 single base substitution T C intron_variant SKCA-BR X 30979828 30979828 single base substitution C T intron_variant SKCA-BR X 30981224 30981224 single base substitution G A intron_variant SKCA-BR X 30981606 30981606 single base substitution G A intron_variant SKCA-BR X 30981912 30981912 single base substitution G A intron_variant SKCA-BR X 30982381 30982381 single base substitution C T intron_variant SKCA-BR X 30982675 30982675 single base substitution C T intron_variant SKCA-BR X 30989215 30989215 single base substitution C T intron_variant SKCA-BR X 30990729 30990729 single base substitution C T intron_variant SKCA-BR X 30992079 30992079 single base substitution G A intron_variant SKCA-BR X 30993483 30993483 single base substitution C T upstream_gene_variant SKCA-BR X 30996274 30996274 single base substitution C T upstream_gene_variant SKCA-BR X 30996447 30996451 deletion of <=200bp CCATT - upstream_gene_variant SKCA-BR X 30997721 30997721 single base substitution C T upstream_gene_variant SKCM-US X 30849651 30849651 single base substitution G A downstream_gene_variant SKCM-US X 30849651 30849651 single base substitution G A stop_gained R650* 1948C>T SKCM-US X 30849651 30849651 single base substitution G A stop_gained R678* 2032C>T SKCM-US X 30870900 30870900 single base substitution G A exon_variant SKCM-US X 30870900 30870900 single base substitution G A missense_variant P20S 58C>T SKCM-US X 30870900 30870900 single base substitution G A missense_variant P569S 1705C>T SKCM-US X 30871041 30871041 single base substitution G A exon_variant SKCM-US X 30871041 30871041 single base substitution G A stop_gained Q522* 1564C>T SKCM-US X 30871041 30871041 single base substitution G A upstream_gene_variant STAD-US X 30849565 30849565 single base substitution G A downstream_gene_variant STAD-US X 30849565 30849565 single base substitution G A synonymous_variant C678C 2034C>T STAD-US X 30849565 30849565 single base substitution G A synonymous_variant C706C 2118C>T STAD-US X 30849602 30849602 single base substitution A G downstream_gene_variant STAD-US X 30849602 30849602 single base substitution A G missense_variant F666S 1997T>C STAD-US X 30849602 30849602 single base substitution A G missense_variant F694S 2081T>C STAD-US X 30852177 30852177 single base substitution C T downstream_gene_variant STAD-US X 30852177 30852177 single base substitution C T missense_variant A633T 1897G>A STAD-US X 30852177 30852177 single base substitution C T missense_variant A661T 1981G>A STAD-US X 30870901 30870901 single base substitution G A exon_variant STAD-US X 30870901 30870901 single base substitution G A synonymous_variant I19I 57C>T STAD-US X 30870901 30870901 single base substitution G A synonymous_variant I568I 1704C>T STAD-US X 30870905 30870905 single base substitution G A exon_variant STAD-US X 30870905 30870905 single base substitution G A missense_variant A18V 53C>T STAD-US X 30870905 30870905 single base substitution G A missense_variant A567V 1700C>T STAD-US X 30870981 30870981 single base substitution G A 5_prime_UTR_variant STAD-US X 30870981 30870981 single base substitution G A exon_variant STAD-US X 30870981 30870981 single base substitution G A missense_variant R542W 1624C>T STAD-US X 30872538 30872538 single base substitution G C exon_variant STAD-US X 30872538 30872538 single base substitution G C missense_variant S415C 1244C>G STAD-US X 30872538 30872538 single base substitution G C upstream_gene_variant STAD-US X 30872570 30872570 single base substitution C T exon_variant STAD-US X 30872570 30872570 single base substitution C T synonymous_variant T404T 1212G>A STAD-US X 30872570 30872570 single base substitution C T upstream_gene_variant STAD-US X 30877628 30877628 single base substitution G A exon_variant STAD-US X 30877628 30877628 single base substitution G A synonymous_variant G26G 78C>T THCA-SA X 30873229 30873229 single base substitution T C exon_variant THCA-SA X 30873229 30873229 single base substitution T C missense_variant M185V 553A>G THCA-SA X 30873229 30873229 single base substitution T C upstream_gene_variant THCA-US X 30873051 30873051 single base substitution G A exon_variant THCA-US X 30873051 30873051 single base substitution G A missense_variant T244I 731C>T THCA-US X 30873051 30873051 single base substitution G A upstream_gene_variant UCEC-US X 30849575 30849575 single base substitution C T downstream_gene_variant UCEC-US X 30849575 30849575 single base substitution C T missense_variant C675Y 2024G>A UCEC-US X 30849575 30849575 single base substitution C T missense_variant C703Y 2108G>A UCEC-US X 30849645 30849645 single base substitution C A downstream_gene_variant UCEC-US X 30849645 30849645 single base substitution C A stop_gained E652* 1954G>T UCEC-US X 30849645 30849645 single base substitution C A stop_gained E680* 2038G>T UCEC-US X 30849648 30849648 single base substitution C T downstream_gene_variant UCEC-US X 30849648 30849648 single base substitution C T missense_variant D651N 1951G>A UCEC-US X 30849648 30849648 single base substitution C T missense_variant D679N 2035G>A UCEC-US X 30852204 30852204 single base substitution C T downstream_gene_variant UCEC-US X 30852204 30852204 single base substitution C T missense_variant A624T 1870G>A UCEC-US X 30852204 30852204 single base substitution C T missense_variant A652T 1954G>A UCEC-US X 30852233 30852233 single base substitution C T downstream_gene_variant UCEC-US X 30852233 30852233 single base substitution C T missense_variant R614Q 1841G>A UCEC-US X 30852233 30852233 single base substitution C T missense_variant R642Q 1925G>A UCEC-US X 30861148 30861148 single base substitution G A 3_prime_UTR_variant UCEC-US X 30861148 30861148 single base substitution G A intron_variant UCEC-US X 30861148 30861148 single base substitution G A missense_variant A608V 1823C>T UCEC-US X 30864692 30864692 single base substitution C A exon_variant UCEC-US X 30864692 30864692 single base substitution C A stop_gained E45* 133G>T UCEC-US X 30864692 30864692 single base substitution C A stop_gained E594* 1780G>T UCEC-US X 30870926 30870926 single base substitution C A exon_variant UCEC-US X 30870926 30870926 single base substitution C A missense_variant R11I 32G>T UCEC-US X 30870926 30870926 single base substitution C A missense_variant R560I 1679G>T UCEC-US X 30870992 30870992 single base substitution T C 5_prime_UTR_variant UCEC-US X 30870992 30870992 single base substitution T C exon_variant UCEC-US X 30870992 30870992 single base substitution T C missense_variant E538G 1613A>G UCEC-US X 30871017 30871017 single base substitution C T exon_variant UCEC-US X 30871017 30871017 single base substitution C T missense_variant A530T 1588G>A UCEC-US X 30871017 30871017 single base substitution C T upstream_gene_variant UCEC-US X 30872309 30872309 single base substitution G T exon_variant UCEC-US X 30872309 30872309 single base substitution G T synonymous_variant G491G 1473C>A UCEC-US X 30872309 30872309 single base substitution G T upstream_gene_variant UCEC-US X 30872556 30872556 single base substitution G A exon_variant UCEC-US X 30872556 30872556 single base substitution G A missense_variant S409F 1226C>T UCEC-US X 30872556 30872556 single base substitution G A upstream_gene_variant UCEC-US X 30872637 30872637 single base substitution C T exon_variant UCEC-US X 30872637 30872637 single base substitution C T missense_variant R382K 1145G>A UCEC-US X 30872637 30872637 single base substitution C T upstream_gene_variant UCEC-US X 30872753 30872753 single base substitution C A exon_variant UCEC-US X 30872753 30872753 single base substitution C A missense_variant Q343H 1029G>T UCEC-US X 30872753 30872753 single base substitution C A upstream_gene_variant UCEC-US X 30872892 30872892 single base substitution G T exon_variant UCEC-US X 30872892 30872892 single base substitution G T missense_variant P297H 890C>A UCEC-US X 30872892 30872892 single base substitution G T upstream_gene_variant UCEC-US X 30872918 30872918 single base substitution A G exon_variant UCEC-US X 30872918 30872918 single base substitution A G synonymous_variant P288P 864T>C UCEC-US X 30872918 30872918 single base substitution A G upstream_gene_variant UCEC-US X 30872926 30872926 single base substitution G A exon_variant UCEC-US X 30872926 30872926 single base substitution G A stop_gained Q286* 856C>T UCEC-US X 30872926 30872926 single base substitution G A upstream_gene_variant UCEC-US X 30873103 30873103 single base substitution G T exon_variant UCEC-US X 30873103 30873103 single base substitution G T missense_variant P227T 679C>A UCEC-US X 30873103 30873103 single base substitution G T upstream_gene_variant UCEC-US X 30873213 30873213 single base substitution T A exon_variant UCEC-US X 30873213 30873213 single base substitution T A missense_variant Y190F 569A>T UCEC-US X 30873213 30873213 single base substitution T A upstream_gene_variant UCEC-US X 30873225 30873225 single base substitution T C exon_variant UCEC-US X 30873225 30873225 single base substitution T C missense_variant H186R 557A>G UCEC-US X 30873225 30873225 single base substitution T C upstream_gene_variant UCEC-US X 30873352 30873352 single base substitution C T exon_variant UCEC-US X 30873352 30873352 single base substitution C T missense_variant E144K 430G>A UCEC-US X 30873352 30873352 single base substitution C T upstream_gene_variant UCEC-US X 30873360 30873360 single base substitution A C exon_variant UCEC-US X 30873360 30873360 single base substitution A C missense_variant F141C 422T>G UCEC-US X 30873360 30873360 single base substitution A C upstream_gene_variant UCEC-US X 30873652 30873652 single base substitution G A exon_variant UCEC-US X 30873652 30873652 single base substitution G A stop_gained R44* 130C>T UCEC-US X 30873652 30873652 single base substitution G A upstream_gene_variant UCEC-US X 30877657 30877657 single base substitution G A exon_variant UCEC-US X 30877657 30877657 single base substitution G A stop_gained R17* 49C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BK-A0C9-01 COSM1119983 c.864T>C p.P288P Substitution - coding silent 23:30854801-30854801 - CCRF-CEM COSM1119999 c.130C>T p.R44* Substitution - Nonsense 23:30855535-30855535 - TCGA-D1-A17D-01 COSM1119999 c.130C>T p.R44* Substitution - Nonsense 23:30855535-30855535 - ME045T COSM229630 c.580C>T p.P194S Substitution - Missense 23:30855085-30855085 - ESCC_BICR_016T COSM5439653 c.1298A>T p.Q433L Substitution - Missense 23:30854367-30854367 - TCGA-AP-A059-01 COSM1119991 c.557A>G p.H186R Substitution - Missense 23:30855108-30855108 - TCGA-BR-4184-01 COSM185140 c.78C>T p.G26G Substitution - coding silent 23:30859511-30859511 - C086 COSM5540046 c.1351C>T p.P451S Substitution - Missense 23:30854314-30854314 - ME049T COSM230424 c.1838A>T p.Y613F Substitution - Missense 23:30843016-30843016 - TCGA-AC-A23C-01 COSM1490833 c.408C>T p.N136N Substitution - coding silent 23:30855257-30855257 - SC_9047 COSM5561153 c.1807A>C p.N603H Substitution - Missense 23:30843047-30843047 - 46M COSM5589091 c.1997G>A p.R666Q Substitution - Missense 23:30831569-30831569 - TCGA-A7-A13E-01 COSM3844462 c.1490G>A p.G497E Substitution - Missense 23:30854175-30854175 - TCGA-AG-3892-01 COSM258128 c.1733G>T p.R578I Substitution - Missense 23:30846622-30846622 - TCGA-EK-A2RN-01 COSM4823130 c.96G>A p.M32I Substitution - Missense 23:30859493-30859493 - I2L-P19Ta-Tumor-Organoid COSM5366973 c.131G>A p.R44Q Substitution - Missense 23:30855534-30855534 - TCGA-D8-A1X6-01 COSM1490832 c.1384G>A p.A462T Substitution - Missense 23:30854281-30854281 - NB-3944 COSM1288319 c.416C>T p.P139L Substitution - Missense 23:30855249-30855249 - TCGA-AR-A2LE-01 COSM3844463 c.497G>A p.G166E Substitution - Missense 23:30855168-30855168 - CSCC-40-T COSM4450039 c.423delT p.F141fs*2 Deletion - Frameshift 23:30855242-30855242 - PD4087a COSM164770 c.1945A>G p.K649E Substitution - Missense 23:30834096-30834096 - TCGA-BS-A0UL-01 COSM1119969 c.1613A>G p.E538G Substitution - Missense 23:30852875-30852875 - EV006-R1 COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - EGC15 COSM3038049 c.2105G>A p.R702H Substitution - Missense 23:30831461-30831461 - TCGA-B5-A11E-01 COSM1119973 c.1473C>A p.G491G Substitution - coding silent 23:30854192-30854192 - TCGA-BR-8361-01 COSM4108954 c.1244C>G p.S415C Substitution - Missense 23:30854421-30854421 - TCGA-BR-8366-01 COSM4108949 c.1981G>A p.A661T Substitution - Missense 23:30834060-30834060 - 8029770 COSM1169195 c.1268G>T p.S423I Substitution - Missense 23:30854397-30854397 - TCGA-34-5231-01 COSM756301 c.2130G>A p.R710R Substitution - coding silent 23:30831436-30831436 - 2521252 COSM3844462 c.1490G>A p.G497E Substitution - Missense 23:30854175-30854175 - TCGA-AX-A05Z-01 COSM1119961 c.1925G>A p.R642Q Substitution - Missense 23:30834116-30834116 - OV207 COSM252856 c.55C>T p.R19C Substitution - Missense 23:30859534-30859534 - 587376 COSM1228378 c.287G>A p.R96Q Substitution - Missense 23:30855378-30855378 - EV006-LN1a COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - NPC10F COSM4997132 c.356G>A p.C119Y Substitution - Missense 23:30855309-30855309 - ICGC_0034 COSM219024 c.1722G>C p.M574I Substitution - Missense 23:30846633-30846633 - 3101B7_035_T COSM5038694 c.909delC p.F304fs*45 Deletion - Frameshift 23:30854756-30854756 - I2L-P19Ta-Tumor-Biopsy COSM5366973 c.131G>A p.R44Q Substitution - Missense 23:30855534-30855534 - EV006-R3 COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - TCGA-IR-A3LH-01 COSM4833401 c.1232C>T p.S411L Substitution - Missense 23:30854433-30854433 - PD24205a COSM5798961 c.2029C>G p.P677A Substitution - Missense 23:30831537-30831537 - sysucc-1163T COSM5459506 c.1487A>G p.K496R Substitution - Missense 23:30854178-30854178 - TCGA-G2-A2EF-01 COSM1315454 c.632G>C p.R211T Substitution - Missense 23:30855033-30855033 - J90_T COSM3965121 c.1381C>T p.R461* Substitution - Nonsense 23:30854284-30854284 - TCGA-D8-A4Z1-01 COSM3844464 c.472C>T p.Q158* Substitution - Nonsense 23:30855193-30855193 - TCGA-D1-A103-01 COSM1119977 c.1145G>A p.R382K Substitution - Missense 23:30854520-30854520 - TCGA-BR-7707-01 COSM4108948 c.2081T>C p.F694S Substitution - Missense 23:30831485-30831485 - TCGA-AG-A01N-01 COSM5073573 c.1156C>T p.P386S Substitution - Missense 23:30854509-30854509 - TCGA-A2-A0SY-01 COSM457341 c.1423G>C p.E475Q Substitution - Missense 23:30854242-30854242 - TCGA-D1-A17Q-01 COSM1119995 c.430G>A p.E144K Substitution - Missense 23:30855235-30855235 - TCGA-BS-A0WQ-01 COSM1119989 c.569A>T p.Y190F Substitution - Missense 23:30855096-30855096 - EV006-R4 COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - EV006-LN1b COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - EV006-R2 COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - NB1690 COSM5703316 c.1918A>G p.K640E Substitution - Missense 23:30834123-30834123 - LC_C9 COSM1190516 c.314G>T p.G105V Substitution - Missense 23:30855351-30855351 - TCGA-EA-A3QD-01 COSM4821732 c.1740G>C p.M580I Substitution - Missense 23:30846615-30846615 - TCGA-GN-A26C-01 COSM3560827 c.1564C>T p.Q522* Substitution - Nonsense 23:30852924-30852924 - PT33 COSM5910101 c.457C>T p.P153S Substitution - Missense 23:30855208-30855208 - LN229 COSM3038078 c.980C>T p.T327I Substitution - Missense 23:30854685-30854685 - I2L-P14b-Tumor-Organoid COSM4589394 c.2128C>T p.R710W Substitution - Missense 23:30831438-30831438 - LPJ108 COSM1316510 c.1225T>G p.S409A Substitution - Missense 23:30854440-30854440 - S02139 COSM5674721 c.607C>A p.L203I Substitution - Missense 23:30855058-30855058 - TCGA-AX-A0J1-01 COSM1119971 c.1588G>A p.A530T Substitution - Missense 23:30852900-30852900 - ACINAR29 COSM1734195 c.1717G>A p.E573K Substitution - Missense 23:30846638-30846638 - TCGA-A8-A07L-01 COSM457342 c.1244delC p.S415fs*33 Deletion - Frameshift 23:30854421-30854421 - TCGA-BR-4362-01 COSM277579 c.1700C>T p.A567V Substitution - Missense 23:30852788-30852788 - TCGA-AX-A06H-01 COSM1119981 c.890C>A p.P297H Substitution - Missense 23:30854775-30854775 - TCGA-EL-A3GW-01 COSM3372241 c.731C>T p.T244I Substitution - Missense 23:30854934-30854934 - TCGA-D1-A17A-01 COSM1119993 c.537G>A p.P179P Substitution - coding silent 23:30855128-30855128 - I2L-P14b-Tumor-Biopsy COSM4589394 c.2128C>T p.R710W Substitution - Missense 23:30831438-30831438 - PD6363a COSM1119993 c.537G>A p.P179P Substitution - coding silent 23:30855128-30855128 - TCGA-CG-5726-01 COSM4108950 c.1704C>T p.I568I Substitution - coding silent 23:30852784-30852784 - 3N64-VS-3T64 COSM4984769 c.549A>G p.S183S Substitution - coding silent 23:30855116-30855116 - TCGA-AP-A0LM-01 COSM1119959 c.1954G>A p.A652T Substitution - Missense 23:30834087-30834087 - 8014753 COSM219024 c.1722G>C p.M574I Substitution - Missense 23:30846633-30846633 - TCGA-22-5480-01 COSM756296 c.121G>A p.A41T Substitution - Missense 23:30855544-30855544 - TCGA-D1-A174-01 COSM1119953 c.2108G>A p.C703Y Substitution - Missense 23:30831458-30831458 - EV006-R6 COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - TCGA-AX-A0J0-01 COSM1119997 c.422T>G p.F141C Substitution - Missense 23:30855243-30855243 - TCGA-D9-A1JX-06 COSM3560826 c.2032C>T p.R678* Substitution - Nonsense 23:30831534-30831534 - TCGA-22-4613-01 COSM756300 c.985C>A p.P329T Substitution - Missense 23:30854680-30854680 - TCGA-60-2708-01 COSM756298 c.701A>G p.Q234R Substitution - Missense 23:30854964-30854964 - 8066081 COSM219024 c.1722G>C p.M574I Substitution - Missense 23:30846633-30846633 - TCGA-A8-A07L-01 COSM457344 c.377C>A p.S126* Substitution - Nonsense 23:30855288-30855288 - TCGA-66-2734-01 COSM756297 c.533C>A p.P178Q Substitution - Missense 23:30855132-30855132 - LUAD-RT-S01813 COSM383633 c.1163G>C p.S388T Substitution - Missense 23:30854502-30854502 - CSCC-44-T COSM4457457 c.1046C>T p.A349V Substitution - Missense 23:30854619-30854619 - TCGA-D1-A0ZV-01 COSM1119967 c.1679G>T p.R560I Substitution - Missense 23:30852809-30852809 - 46M COSM5589092 c.1124G>A p.R375K Substitution - Missense 23:30854541-30854541 - 8066067 COSM219024 c.1722G>C p.M574I Substitution - Missense 23:30846633-30846633 - TCGA-AA-A00N-01 COSM277579 c.1700C>T p.A567V Substitution - Missense 23:30852788-30852788 - LUAD-NYU195 COSM371212 c.1566A>G p.Q522Q Substitution - coding silent 23:30852922-30852922 - TCGA-BR-A4QL-01 COSM4108953 c.1624C>T p.R542W Substitution - Missense 23:30852864-30852864 - B105-1 COSM1745430 c.99_100ins20 p.Q34fs*40 Insertion - Frameshift 23:30859489-30859490 - pfg375T COSM4752052 c.736C>T p.Q246* Substitution - Nonsense 23:30854929-30854929 - BN34T COSM1625819 c.1481_1482insG p.E495fs*6 Insertion - Frameshift 23:30854183-30854184 - TCGA-CI-6624-01 COSM1120001 c.49C>T p.R17* Substitution - Nonsense 23:30859540-30859540 - 2492730 COSM5728414 c.335C>A p.A112E Substitution - Missense 23:30855330-30855330 - PT48 COSM5910101 c.457C>T p.P153S Substitution - Missense 23:30855208-30855208 - TCGA-G4-6628-01 COSM1467467 c.821A>G p.N274S Substitution - Missense 23:30854844-30854844 - EGC15 COSM5064651 c.1856G>A p.G619D Substitution - Missense 23:30842998-30842998 - C709 COSM4444189 c.688A>G p.I230V Substitution - Missense 23:30854977-30854977 - BD20T COSM5517896 c.245G>C p.S82T Substitution - Missense 23:30855420-30855420 - EV006-R15 COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - KPOPBR-27-T COSM1120001 c.49C>T p.R17* Substitution - Nonsense 23:30859540-30859540 - TCGA-06-0241-01 COSM2151165 c.1427G>A p.R476H Substitution - Missense 23:30854238-30854238 - TCGA-JW-A5VH-01 COSM4855104 c.1709C>T p.T570M Substitution - Missense 23:30852779-30852779 - 385 COSM4427065 c.1051C>T p.L351F Substitution - Missense 23:30854614-30854614 - EV006-R7 COSM4410885 c.299A>C p.H100P Substitution - Missense 23:30855366-30855366 - DN1122F COSM5782848 c.1341G>A p.V447V Substitution - coding silent 23:30854324-30854324 - S01578 COSM5670754 c.1427G>T p.R476L Substitution - Missense 23:30854238-30854238 - PD11389a COSM5767401 c.778C>T p.H260Y Substitution - Missense 23:30854887-30854887 - TCGA-A7-A13E-01 COSM1467466 c.1031G>A p.G344E Substitution - Missense 23:30854634-30854634 - TCGA-Q1-A73P-01 COSM4825965 c.869C>T p.S290F Substitution - Missense 23:30854796-30854796 - TCGA-BS-A0UF-01 COSM1119965 c.1780G>T p.E594* Substitution - Nonsense 23:30846575-30846575 - TCGA-EI-6917-01 COSM3424727 c.2047G>A p.E683K Substitution - Missense 23:30831519-30831519 - LUAD-NYU696 COSM376134 c.1382G>A p.R461Q Substitution - Missense 23:30854283-30854283 - P144 COSM1737122 c.2117G>C p.C706S Substitution - Missense 23:30831449-30831449 - TCGA-F4-6807-01 COSM1467468 c.743C>T p.T248M Substitution - Missense 23:30854922-30854922 - PT33 COSM5910100 c.458C>T p.P153L Substitution - Missense 23:30855207-30855207 - Pat_14_B COSM5877728 c.1319C>T p.T440I Substitution - Missense 23:30854346-30854346 - TCGA-AX-A063-01 COSM1119963 c.1823C>T p.A608V Substitution - Missense 23:30843031-30843031 - TCGA-AX-A0J0-01 COSM1119955 c.2038G>T p.E680* Substitution - Nonsense 23:30831528-30831528 - 12-P279 COSM4589395 c.2046C>T p.Y682Y Substitution - coding silent 23:30831520-30831520 - S02292 COSM5688307 c.168G>A p.M56I Substitution - Missense 23:30855497-30855497 - TCGA-CA-6718-01 COSM1467466 c.1031G>A p.G344E Substitution - Missense 23:30854634-30854634 - TCGA-B5-A0JY-01 COSM1119957 c.2035G>A p.D679N Substitution - Missense 23:30831531-30831531 - S01542 COSM5669842 c.187G>C p.D63H Substitution - Missense 23:30855478-30855478 - TCGA-B8-4620-01 COSM488293 c.2089C>T p.H697Y Substitution - Missense 23:30831477-30831477 - TCGA-FD-A3B8-01 COSM1315453 c.989C>G p.P330R Substitution - Missense 23:30854676-30854676 - EGC15 COSM5064652 c.337G>A p.A113T Substitution - Missense 23:30855328-30855328 - TCGA-AA-3966-01 COSM273324 c.1837delT p.Y613fs*4 Deletion - Frameshift 23:30843017-30843017 - CSCC-44-T COSM4510661 c.844C>G p.P282A Substitution - Missense 23:30854821-30854821 - TCGA-FD-A3B3-01 COSM1315452 c.1687A>T p.S563C Substitution - Missense 23:30852801-30852801 - TCGA-E2-A574-01 COSM3844466 c.46C>G p.L16V Substitution - Missense 23:30859543-30859543 - TCGA-AP-A051-01 COSM1119979 c.1029G>T p.Q343H Substitution - Missense 23:30854636-30854636 - TCGA-BR-6452-01 COSM4108947 c.2118C>T p.C706C Substitution - coding silent 23:30831448-30831448 - pfg217T COSM4752053 c.1A>G p.M1V Substitution - Missense 23:30859588-30859588 - TCGA-25-1632-01 COSM78051 c.555G>A p.M185I Substitution - Missense 23:30855110-30855110 - BD57T COSM5511249 c.392T>C p.V131A Substitution - Missense 23:30855273-30855273 - ccRCC-17 COSM1664447 c.1445C>T p.P482L Substitution - Missense 23:30854220-30854220 - 01-P8014 COSM4589397 c.453T>C p.T151T Substitution - coding silent 23:30855212-30855212 - TCGA-DK-A3X1-01 COSM1315454 c.632G>C p.R211T Substitution - Missense 23:30855033-30855033 - CHEWS011 COSM4589394 c.2128C>T p.R710W Substitution - Missense 23:30831438-30831438 - TCGA-AP-A059-01 COSM1119985 c.856C>T p.Q286* Substitution - Nonsense 23:30854809-30854809 - TCGA-BS-A0UF-01 COSM1120001 c.49C>T p.R17* Substitution - Nonsense 23:30859540-30859540 - TCGA-06-0241 COSM2151165 c.1427G>A p.R476H Substitution - Missense 23:30854238-30854238 - TCGA-GC-A3RC-01 COSM3800561 c.325C>T p.P109S Substitution - Missense 23:30855340-30855340 - SW48 COSM3038048 c.2115G>A p.Q705Q Substitution - coding silent 23:30831451-30831451 - TCGA-B5-A0JY-01 COSM1119987 c.679C>A p.P227T Substitution - Missense 23:30854986-30854986 - TCGA-66-2791-01 COSM756299 c.932T>C p.V311A Substitution - Missense 23:30854733-30854733 - TCGA-42-2591-01 COSM1331913 c.225C>A p.N75K Substitution - Missense 23:30855440-30855440 - TCGA-BS-A0UV-01 COSM1119975 c.1226C>T p.S409F Substitution - Missense 23:30854439-30854439 - 08-P1177 COSM4589396 c.923A>G p.Q308R Substitution - Missense 23:30854742-30854742 - BCM375T COSM4951025 c.2037_2038insG p.E680fs*11 Insertion - Frameshift 23:30831528-30831529 - TCGA-BR-4184-01 COSM4108955 c.1212G>A p.T404T Substitution - coding silent 23:30854453-30854453 - 8057513 COSM219024 c.1722G>C p.M574I Substitution - Missense 23:30846633-30846633 - PD11344a COSM5782848 c.1341G>A p.V447V Substitution - coding silent 23:30854324-30854324 - 13542 COSM756298 c.701A>G p.Q234R Substitution - Missense 23:30854964-30854964 - PD23558a COSM5777540 c.461C>A p.S154* Substitution - Nonsense 23:30855204-30855204 - BCM375T COSM4951025 c.2037_2038insG p.E680fs*11 Insertion - Frameshift 23:30831528-30831529 - YUTEPA COSM1714791 c.1813G>A p.D605N Substitution - Missense 23:30843041-30843041 - TCGA-G3-A7M5-01 COSM4942043 c.1618C>T p.L540L Substitution - coding silent 23:30852870-30852870 - TCGA-BF-A3DL-01 COSM4904796 c.1705C>T p.P569S Substitution - Missense 23:30852783-30852783 - TCGA-DK-A3IU-01 COSM3800560 c.1168C>T p.Q390* Substitution - Nonsense 23:30854497-30854497 - 8057501 COSM219024 c.1722G>C p.M574I Substitution - Missense 23:30846633-30846633 - BD72T COSM5513774 c.1258C>A p.P420T Substitution - Missense 23:30854407-30854407 - AOCS-162-1-1 COSM4149008 c.1789C>T p.L597F Substitution - Missense 23:30846566-30846566 - TCGA-E2-A2P6-01 COSM3844465 c.351G>A p.L117L Substitution - coding silent 23:30855314-30855314 - CRC-02T COSM5455874 c.1488G>T p.K496N Substitution - Missense 23:30854177-30854177 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.187993;Hs.188007;Hs.188213;Hs.188256 Xp21.2 300480

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 5-UTRSNV . c.1-60T>G X 30877765 HC A G Missense p.V311A c.932T>C X 30872850 LUSC A G Synonymous p.P288P c.864T>C X 30872918 UCEC A G Synonymous p.T244T c.732T>C X 30873050 LUAD C A Missense p.Q34H c.102G>T X 30877604 LUAD C A Missense p.R560I c.1679G>T X 30870926 UCEC C G Missense p.E475Q c.1423G>C X 30872359 BRCA C G Missense p.M574I c.1722G>C X 30864750 PAAD C G Missense p.R211T c.632G>C X 30873150 BLCA C T Missense p.A41T c.121G>A X 30873661 LUSC C T Missense p.A462T c.1384G>A X 30872398 BRCA C T Missense p.C703Y c.2108G>A X 30849575 UCEC C T Missense p.D9N c.25G>A X 30877681 CM C T Missense p.E481K c.1441G>A X 30872341 CM C T Missense p.M185I c.555G>A X 30873227 OV C T Missense p.R476H c.1427G>A X 30872355 GBM C T Missense p.R643K c.1928G>A X 30852230 CM C T Synonymous p.E572E c.1716G>A X 30864756 CM C T Synonymous p.R710R c.2130G>A X 30849553 LUSC C T Synonymous p.T463T c.1389G>A X 30872393 CM G A 5-UTRSNV . c.1-33C>T X 30877738 CM G A Missense p.A608V c.1823C>T X 30861148 UCEC G A Missense p.H697Y c.2089C>T X 30849594 RCCC G A Missense p.P135S c.403C>T X 30873379 HNSC G A Missense p.P139L c.416C>T X 30873366 NB G A Missense p.P194S c.580C>T X 30873202 CM G A Missense p.P569S c.1705C>T X 30870900 CM G A Missense p.S409F c.1226C>T X 30872556 CM G A Missense p.T244I c.731C>T X 30873051 THCA G A Nonsense p.Q390* c.1168C>T X 30872614 BLCA G A Nonsense p.Q522* c.1564C>T X 30871041 CM G A Nonsense p.R44* c.130C>T X 30873652 UCEC G A Nonsense p.R678* c.2032C>T X 30849651 CM G A Synonymous p.I568I c.1704C>T X 30870901 STAD G A Synonymous p.N136N c.408C>T X 30873374 BRCA G C Missense p.P330R c.989C>G X 30872793 BLCA G - Frameshift p.S415Lfs*33 c.1244delC X 30872538 BRCA G T Missense p.P178Q c.533C>A X 30873249 LUSC G T Missense p.P265H c.794C>A X 30872988 CM G T Missense p.P297H c.890C>A X 30872892 UCEC G T Missense p.P329T c.985C>A X 30872797 LUSC G T Missense p.Q516K c.1546C>A X 30872236 LUAD G T Nonsense p.S126* c.377C>A X 30873405 BRCA T A Missense p.S563C c.1687A>T X 30870918 BLCA T A Missense p.Y190F c.569A>T X 30873213 UCEC T A Missense p.Y613F c.1838A>T X 30861133 CM TATCCCTCTT - Frameshift p.R412Lfs*33 c.1233_1242delAAGAGGGATA X 30872540 BRCA T C IntronicSNV . c.1889-1835A>G X 30854104 HC T C Missense p.E538G c.1613A>G X 30870992 UCEC T C Missense p.K649E c.1945A>G X 30852213 BRCA T C Missense p.Q234R c.701A>G X 30873081 LUSC T C Missense p.Q234R c.701A>G X 30873081 NSCLC T G IntronicSNV . c.1888+4317A>C X 30856766 CLL