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 11 116734454 116734454 + Missense_Mutation SNP G G A TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr11:116734454G>A c.1715C>T c.(1714-1716)gCg>gTg p.A572V BLCA 11 116728585 116728585 + Missense_Mutation SNP A A T TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr11:116728585A>T c.3278T>A c.(3277-3279)aTa>aAa p.I1093K BLCA 11 116729212 116729212 + Missense_Mutation SNP T T C TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 g.chr11:116729212T>C c.2651A>G c.(2650-2652)tAt>tGt p.Y884C BLCA 11 116729357 116729357 + Missense_Mutation SNP G G C TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr11:116729357G>C c.2506C>G c.(2506-2508)Ctg>Gtg p.L836V BLCA 11 116730000 116730000 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr11:116730000C>T c.2428G>A c.(2428-2430)Gac>Aac p.D810N BLCA 11 116730169 116730169 + Silent SNP G G C TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr11:116730169G>C c.2259C>G c.(2257-2259)gtC>gtG p.V753V BLCA 11 116732082 116732082 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr11:116732082G>A c.2015C>T c.(2014-2016)tCa>tTa p.S672L BLCA 11 116732089 116732089 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr11:116732089G>A c.2008C>T c.(2008-2010)Cag>Tag p.Q670* BLCA 11 116741051 116741051 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr11:116741051G>A c.1630C>T c.(1630-1632)Cag>Tag p.Q544* BLCA 11 116741052 116741052 + Silent SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr11:116741052C>A c.1629G>T c.(1627-1629)gtG>gtT p.V543V BLCA 11 116744290 116744290 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr11:116744290C>T c.1470G>A c.(1468-1470)cgG>cgA p.R490R BLCA 11 116797980 116797980 + Missense_Mutation SNP C C A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr11:116797980C>A c.397G>T c.(397-399)Gct>Tct p.A133S BLCA 11 116798054 116798054 + Missense_Mutation SNP C C A TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr11:116798054C>A c.323G>T c.(322-324)cGt>cTt p.R108L BRCA 11 116730052 116730052 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr11:116730052C>T c.2376G>A c.(2374-2376)ctG>ctA p.L792L BRCA 11 116732018 116732018 + Frame_Shift_Del DEL G G - TCGA-BH-A0W3-01A-11D-A10G-09 TCGA-BH-A0W3-10A-01X-A10H-09 g.chr11:116732018delG c.2079delC c.(2077-2079)cccfs p.P693fs BRCA 11 116732606 116732606 + Nonsense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr11:116732606G>A c.1948C>T c.(1948-1950)Cag>Tag p.Q650* BRCA 11 116734457 116734457 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr11:116734457G>A c.1712C>T c.(1711-1713)gCt>gTt p.A571V BRCA 11 116747071 116747071 + Silent SNP A A G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr11:116747071A>G c.819T>C c.(817-819)gcT>gcC p.A273A BRCA 11 116766967 116766967 + Splice_Site SNP A A G TCGA-BH-A201-01A-11D-A14K-09 TCGA-BH-A201-10A-01D-A14K-09 g.chr11:116766967A>G c.e6+1 BRCA 11 116798097 116798097 + Splice_Site SNP C C A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr11:116798097C>A c.e4-1 BRCA 11 116827664 116827664 + Splice_Site SNP C C T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr11:116827664C>T c.216G>A c.(214-216)caG>caA p.Q72Q BRCA 11 116827720 116827720 + Missense_Mutation SNP G G A TCGA-A7-A4SB-01A-21D-A25Q-09 TCGA-A7-A4SB-10A-01D-A25Q-09 g.chr11:116827720G>A c.160C>T c.(160-162)Cgg>Tgg p.R54W BRCA 11 116827733 116827733 + Silent SNP C C T TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr11:116827733C>T c.147G>A c.(145-147)ttG>ttA p.L49L BRCA 11 116827762 116827762 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:116827762C>G c.118G>C c.(118-120)Gat>Cat p.D40H CESC 11 116728696 116728696 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr11:116728696G>C c.3167C>G c.(3166-3168)tCa>tGa p.S1056* COAD 11 116728794 116728794 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:116728794G>A c.3069C>T c.(3067-3069)caC>caT p.H1023H COAD 11 116730029 116730029 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:116730029T>C c.2399A>G c.(2398-2400)cAc>cGc p.H800R COAD 11 116730102 116730102 + Missense_Mutation SNP A A G TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr11:116730102A>G c.2326T>C c.(2326-2328)Tcc>Ccc p.S776P COAD 11 116730110 116730110 + Missense_Mutation SNP C C A TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr11:116730110C>A c.2318G>T c.(2317-2319)cGc>cTc p.R773L COAD 11 116730133 116730133 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:116730133G>A c.2295C>T c.(2293-2295)ggC>ggT p.G765G COAD 11 116734436 116734436 + Missense_Mutation SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr11:116734436T>C c.1733A>G c.(1732-1734)aAa>aGa p.K578R COAD 11 116734489 116734489 + Silent SNP A A G TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COAD 11 116734489 116734489 + Silent SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COAD 11 116734489 116734489 + Silent SNP A A G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COAD 11 116734489 116734489 + Silent SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COAD 11 116734489 116734489 + Silent SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COAD 11 116734490 116734490 + Missense_Mutation SNP C C T TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr11:116734490C>T c.1679G>A c.(1678-1680)cGt>cAt p.R560H COAD 11 116734491 116734491 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:116734491G>A c.1678C>T c.(1678-1680)Cgt>Tgt p.R560C COAD 11 116734507 116734507 + Silent SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:116734507C>A c.1662G>T c.(1660-1662)ctG>ctT p.L554L COAD 11 116744654 116744654 + Nonsense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr11:116744654G>A c.1372C>T c.(1372-1374)Caa>Taa p.Q458* COAD 11 116746118 116746118 + Missense_Mutation SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr11:116746118A>G c.1115T>C c.(1114-1116)cTg>cCg p.L372P COAD 11 116747014 116747014 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:116747014G>T c.876C>A c.(874-876)ctC>ctA p.L292L COAD 11 116767012 116767012 + Silent SNP G G A TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr11:116767012G>A c.648C>T c.(646-648)cgC>cgT p.R216R COAD 11 116767060 116767060 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr11:116767060G>A c.600C>T c.(598-600)tgC>tgT p.C200C COAD 11 116768001 116768001 + Missense_Mutation SNP G G T TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr11:116768001G>T c.475C>A c.(475-477)Cag>Aag p.Q159K COAD 11 116797997 116797997 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:116797997A>C c.380T>G c.(379-381)gTt>gGt p.V127G COAD 11 116798004 116798004 + Missense_Mutation SNP T T A TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr11:116798004T>A c.373A>T c.(373-375)Aac>Tac p.N125Y COAD 11 116798018 116798018 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:116798018A>C c.359T>G c.(358-360)tTt>tGt p.F120C COAD 11 116824787 116824787 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr11:116824787C>T c.253G>A c.(253-255)Gaa>Aaa p.E85K COADREAD 11 116728696 116728696 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:116728696G>T c.3167C>A c.(3166-3168)tCa>tAa p.S1056* COADREAD 11 116728794 116728794 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:116728794G>A c.3069C>T c.(3067-3069)caC>caT p.H1023H COADREAD 11 116730029 116730029 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:116730029T>C c.2399A>G c.(2398-2400)cAc>cGc p.H800R COADREAD 11 116730102 116730102 + Missense_Mutation SNP A A G TCGA-CM-6675-01A-11D-1835-10 TCGA-CM-6675-10A-01D-1835-10 g.chr11:116730102A>G c.2326T>C c.(2326-2328)Tcc>Ccc p.S776P COADREAD 11 116730110 116730110 + Missense_Mutation SNP C C A TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr11:116730110C>A c.2318G>T c.(2317-2319)cGc>cTc p.R773L COADREAD 11 116730133 116730133 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:116730133G>A c.2295C>T c.(2293-2295)ggC>ggT p.G765G COADREAD 11 116734436 116734436 + Missense_Mutation SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr11:116734436T>C c.1733A>G c.(1732-1734)aAa>aGa p.K578R COADREAD 11 116734489 116734489 + Silent SNP A A G TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COADREAD 11 116734489 116734489 + Silent SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COADREAD 11 116734489 116734489 + Silent SNP A A G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COADREAD 11 116734489 116734489 + Silent SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COADREAD 11 116734489 116734489 + Silent SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr11:116734489A>G c.1680T>C c.(1678-1680)cgT>cgC p.R560R COADREAD 11 116734490 116734490 + Missense_Mutation SNP C C T TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr11:116734490C>T c.1679G>A c.(1678-1680)cGt>cAt p.R560H COADREAD 11 116734491 116734491 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:116734491G>A c.1678C>T c.(1678-1680)Cgt>Tgt p.R560C COADREAD 11 116734507 116734507 + Silent SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:116734507C>A c.1662G>T c.(1660-1662)ctG>ctT p.L554L COADREAD 11 116744654 116744654 + Nonsense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr11:116744654G>A c.1372C>T c.(1372-1374)Caa>Taa p.Q458* COADREAD 11 116746118 116746118 + Missense_Mutation SNP A A G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr11:116746118A>G c.1115T>C c.(1114-1116)cTg>cCg p.L372P COADREAD 11 116747014 116747014 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:116747014G>T c.876C>A c.(874-876)ctC>ctA p.L292L COADREAD 11 116767012 116767012 + Silent SNP G G A TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr11:116767012G>A c.648C>T c.(646-648)cgC>cgT p.R216R COADREAD 11 116767060 116767060 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr11:116767060G>A c.600C>T c.(598-600)tgC>tgT p.C200C COADREAD 11 116768001 116768001 + Missense_Mutation SNP G G T TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr11:116768001G>T c.475C>A c.(475-477)Cag>Aag p.Q159K COADREAD 11 116797997 116797997 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:116797997A>C c.380T>G c.(379-381)gTt>gGt p.V127G COADREAD 11 116798004 116798004 + Missense_Mutation SNP T T A TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr11:116798004T>A c.373A>T c.(373-375)Aac>Tac p.N125Y COADREAD 11 116798018 116798018 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:116798018A>C c.359T>G c.(358-360)tTt>tGt p.F120C COADREAD 11 116824787 116824787 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr11:116824787C>T c.253G>A c.(253-255)Gaa>Aaa p.E85K DLBC 11 116719841 116719841 + Missense_Mutation SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr11:116719841C>T c.3496G>A c.(3496-3498)Gct>Act p.A1166T ESCA 11 116730026 116730026 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr11:116730026C>T c.2402G>A c.(2401-2403)cGt>cAt p.R801H ESCA 11 116730204 116730204 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr11:116730204G>T c.2224C>A c.(2224-2226)Cag>Aag p.Q742K ESCA 11 116732947 116732947 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr11:116732947G>T c.1882C>A c.(1882-1884)Cac>Aac p.H628N ESCA 11 116744228 116744228 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr11:116744228C>T c.1532G>A c.(1531-1533)cGg>cAg p.R511Q ESCA 11 116797979 116797979 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr11:116797979G>A c.398C>T c.(397-399)gCt>gTt p.A133V GBM 11 116732043 116732043 + Missense_Mutation SNP C C T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr11:116732043C>T c.2054G>A c.(2053-2055)aGg>aAg p.R685K GBMLGG 11 116719848 116719848 + Silent SNP G G A TCGA-HT-7474-01A-11D-2024-08 TCGA-HT-7474-10A-01D-2024-08 g.chr11:116719848G>A c.3489C>T c.(3487-3489)agC>agT p.S1163S GBMLGG 11 116732043 116732043 + Missense_Mutation SNP C C T TCGA-32-2638-01A-01D-1495-08 TCGA-32-2638-10A-01D-1495-08 g.chr11:116732043C>T c.2054G>A c.(2053-2055)aGg>aAg p.R685K GBMLGG 11 116733035 116733035 + Missense_Mutation SNP C C G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:116733035C>G c.1794G>C c.(1792-1794)gaG>gaC p.E598D GBMLGG 11 116734430 116734430 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:116734430T>C c.1739A>G c.(1738-1740)cAc>cGc p.H580R GBMLGG 11 116798086 116798086 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:116798086C>A c.291G>T c.(289-291)gtG>gtT p.V97V HNSC 11 116719879 116719879 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr11:116719879G>A c.3458C>T c.(3457-3459)gCc>gTc p.A1153V HNSC 11 116728595 116728595 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr11:116728595C>T c.3268G>A c.(3268-3270)Gaa>Aaa p.E1090K HNSC 11 116729228 116729228 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr11:116729228G>C c.2635C>G c.(2635-2637)Cag>Gag p.Q879E HNSC 11 116730111 116730111 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr11:116730111G>A c.2317C>T c.(2317-2319)Cgc>Tgc p.R773C HNSC 11 116730264 116730264 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr11:116730264G>A c.2164C>T c.(2164-2166)Cag>Tag p.Q722* HNSC 11 116730297 116730297 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr11:116730297G>C c.2131C>G c.(2131-2133)Caa>Gaa p.Q711E HNSC 11 116746969 116746969 + Splice_Site SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 g.chr11:116746969C>T c.921G>A c.(919-921)caG>caA p.Q307Q HNSC 11 116747727 116747727 + Silent SNP C C A TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr11:116747727C>A c.723G>T c.(721-723)gtG>gtT p.V241V HNSC 11 116767008 116767008 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr11:116767008G>T c.652C>A c.(652-654)Ctg>Atg p.L218M HNSC 11 116767020 116767020 + Missense_Mutation SNP G G A TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr11:116767020G>A c.640C>T c.(640-642)Cgg>Tgg p.R214W HNSC 11 116767027 116767027 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr11:116767027C>G c.633G>C c.(631-633)caG>caC p.Q211H HNSC 11 116797940 116797940 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr11:116797940A>T c.437T>A c.(436-438)aTa>aAa p.I146K KIPAN 11 116717228 116717228 + Missense_Mutation SNP T T C TCGA-Y8-A898-01A-11D-A34Z-10 TCGA-Y8-A898-10A-01D-A34Z-10 g.chr11:116717228T>C c.3676A>G c.(3676-3678)Agt>Ggt p.S1226G KIPAN 11 116729011 116729011 + Missense_Mutation SNP T T C TCGA-SX-A7SM-01A-11D-A34Z-10 TCGA-SX-A7SM-10A-01D-A34Z-10 g.chr11:116729011T>C c.2852A>G c.(2851-2853)cAg>cGg p.Q951R KIPAN 11 116741113 116741113 + Missense_Mutation SNP A A G TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr11:116741113A>G c.1568T>C c.(1567-1569)gTg>gCg p.V523A KIPAN 11 116746997 116746997 + Missense_Mutation SNP A A G TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr11:116746997A>G c.893T>C c.(892-894)aTg>aCg p.M298T KIPAN 11 116968939 116968939 + Missense_Mutation SNP A A T TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr11:116968939A>T c.19T>A c.(19-21)Tac>Aac p.Y7N KIRC 11 116746997 116746997 + Missense_Mutation SNP A A G TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr11:116746997A>G c.893T>C c.(892-894)aTg>aCg p.M298T KIRC 11 116968939 116968939 + Missense_Mutation SNP A A T TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr11:116968939A>T c.19T>A c.(19-21)Tac>Aac p.Y7N KIRP 11 116717228 116717228 + Missense_Mutation SNP T T C TCGA-Y8-A898-01A-11D-A34Z-10 TCGA-Y8-A898-10A-01D-A34Z-10 g.chr11:116717228T>C c.3676A>G c.(3676-3678)Agt>Ggt p.S1226G KIRP 11 116729011 116729011 + Missense_Mutation SNP T T C TCGA-SX-A7SM-01A-11D-A34Z-10 TCGA-SX-A7SM-10A-01D-A34Z-10 g.chr11:116729011T>C c.2852A>G c.(2851-2853)cAg>cGg p.Q951R KIRP 11 116741113 116741113 + Missense_Mutation SNP A A G TCGA-A4-A48D-01A-11D-A25F-10 TCGA-A4-A48D-10A-01D-A25F-10 g.chr11:116741113A>G c.1568T>C c.(1567-1569)gTg>gCg p.V523A LGG 11 116719848 116719848 + Silent SNP G G A TCGA-HT-7474-01A-11D-2024-08 TCGA-HT-7474-10A-01D-2024-08 g.chr11:116719848G>A c.3489C>T c.(3487-3489)agC>agT p.S1163S LGG 11 116733035 116733035 + Missense_Mutation SNP C C G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:116733035C>G c.1794G>C c.(1792-1794)gaG>gaC p.E598D LGG 11 116734430 116734430 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:116734430T>C c.1739A>G c.(1738-1740)cAc>cGc p.H580R LGG 11 116798086 116798086 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:116798086C>A c.291G>T c.(289-291)gtG>gtT p.V97V LIHC 11 116728796 116728796 + Missense_Mutation SNP G G A TCGA-RG-A7D4-01A-12D-A33Q-10 TCGA-RG-A7D4-10A-01D-A33Q-10 g.chr11:116728796G>A c.3067C>T c.(3067-3069)Cac>Tac p.H1023Y LIHC 11 116744713 116744713 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr11:116744713T>C c.1313A>G c.(1312-1314)cAg>cGg p.Q438R LIHC 11 116746722 116746722 + Silent SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr11:116746722A>G c.925T>C c.(925-927)Tta>Cta p.L309L LUAD 11 116729004 116729004 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr11:116729004T>C c.2859A>G c.(2857-2859)caA>caG p.Q953Q LUAD 11 116729996 116729996 + Missense_Mutation SNP C C A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr11:116729996C>A c.2432G>T c.(2431-2433)aGt>aTt p.S811I LUAD 11 116732068 116732069 + Frame_Shift_Ins INS - - G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr11:116732068_116732069insG c.2028_2029insC c.(2026-2031)cccaacfs p.N677fs LUAD 11 116734527 116734527 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr11:116734527A>G c.1642T>C c.(1642-1644)Tac>Cac p.Y548H LUAD 11 116747710 116747710 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 g.chr11:116747710C>A c.740G>T c.(739-741)cGc>cTc p.R247L LUAD 11 116767928 116767928 + Missense_Mutation SNP C C A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr11:116767928C>A c.548G>T c.(547-549)gGg>gTg p.G183V LUSC 11 116717266 116717266 + Missense_Mutation SNP C C A TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr11:116717266C>A c.3638G>T c.(3637-3639)tGt>tTt p.C1213F LUSC 11 116719898 116719898 + Nonsense_Mutation SNP C C A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr11:116719898C>A c.3439G>T c.(3439-3441)Gag>Tag p.E1147* LUSC 11 116728678 116728678 + Missense_Mutation SNP C C T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 g.chr11:116728678C>T c.3185G>A c.(3184-3186)gGt>gAt p.G1062D LUSC 11 116729286 116729286 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr11:116729286G>A c.2577C>T c.(2575-2577)acC>acT p.T859T LUSC 11 116729308 116729308 + Missense_Mutation SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr11:116729308G>A c.2555C>T c.(2554-2556)aCa>aTa p.T852I LUSC 11 116729359 116729359 + Missense_Mutation SNP T T C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr11:116729359T>C c.2504A>G c.(2503-2505)cAt>cGt p.H835R LUSC 11 116730126 116730126 + Missense_Mutation SNP C C T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 g.chr11:116730126C>T c.2302G>A c.(2302-2304)Gca>Aca p.A768T LUSC 11 116732021 116732021 + Silent SNP G G C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr11:116732021G>C c.2076C>G c.(2074-2076)ccC>ccG p.P692P LUSC 11 116734532 116734532 + Missense_Mutation SNP G G C TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr11:116734532G>C c.1637C>G c.(1636-1638)tCt>tGt p.S546C LUSC 11 116744752 116744752 + Missense_Mutation SNP A A G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr11:116744752A>G c.1274T>C c.(1273-1275)cTg>cCg p.L425P OV 11 116730109 116730109 + Silent SNP G G A TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 g.chr11:116730109G>A c.2319C>T c.(2317-2319)cgC>cgT p.R773R OV 11 116730119 116730119 + Missense_Mutation SNP G G T TCGA-36-2545-01A-01D-1526-09 TCGA-36-2545-10A-01D-1526-09 g.chr11:116730119G>T c.2309C>A c.(2308-2310)tCc>tAc p.S770Y OV 11 116730204 116730204 + Missense_Mutation SNP G G C TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 g.chr11:116730204G>C c.2224C>G c.(2224-2226)Cag>Gag p.Q742E OV 11 116732096 116732096 + Missense_Mutation SNP T T G TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 g.chr11:116732096T>G c.2001A>C c.(1999-2001)ttA>ttC p.L667F OV 11 116734491 116734491 + Missense_Mutation SNP G G A TCGA-24-1551-01A-01W-0551-08 TCGA-24-1551-10A-01W-0551-08 g.chr11:116734491G>A c.1678C>T c.(1678-1680)Cgt>Tgt p.R560C OV 11 116824810 116824810 + Missense_Mutation SNP T T G TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 g.chr11:116824810T>G c.230A>C c.(229-231)gAa>gCa p.E77A PAAD 11 116718256 116718256 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:116718256C>T c.3570G>A c.(3568-3570)tcG>tcA p.S1190S PRAD 11 116718256 116718256 + Silent SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr11:116718256C>T c.3570G>A c.(3568-3570)tcG>tcA p.S1190S PRAD 11 116729075 116729075 + Missense_Mutation SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 g.chr11:116729075G>A c.2788C>T c.(2788-2790)Ccc>Tcc p.P930S PRAD 11 116729309 116729309 + Missense_Mutation SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr11:116729309T>C c.2554A>G c.(2554-2556)Aca>Gca p.T852A PRAD 11 116729350 116729350 + Missense_Mutation SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 g.chr11:116729350G>A c.2513C>T c.(2512-2514)tCg>tTg p.S838L PRAD 11 116767026 116767026 + Missense_Mutation SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr11:116767026T>C c.634A>G c.(634-636)Aat>Gat p.N212D PRAD 11 116798051 116798051 + Missense_Mutation SNP C C G TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 g.chr11:116798051C>G c.326G>C c.(325-327)cGg>cCg p.R109P PRAD 11 116827691 116827691 + Silent SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 g.chr11:116827691G>A c.189C>T c.(187-189)tgC>tgT p.C63C READ 11 116728696 116728696 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:116728696G>T c.3167C>A c.(3166-3168)tCa>tAa p.S1056* SARC 11 116728998 116728998 + Frame_Shift_Del DEL T T - TCGA-IS-A3K8-01A-11D-A21Q-09 TCGA-IS-A3K8-10A-01D-A21Q-09 g.chr11:116728998delT c.2865delA c.(2863-2865)caafs p.Q955fs SARC 11 116729350 116729350 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 g.chr11:116729350G>A c.2513C>T c.(2512-2514)tCg>tTg p.S838L SKCM 11 116728533 116728533 + Silent SNP G G T TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 g.chr11:116728533G>T c.3330C>A c.(3328-3330)ccC>ccA p.P1110P SKCM 11 116728595 116728595 + Nonsense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr11:116728595C>A c.3268G>T c.(3268-3270)Gaa>Taa p.E1090* SKCM 11 116729104 116729104 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr11:116729104G>A c.2759C>T c.(2758-2760)tCg>tTg p.S920L SKCM 11 116729109 116729109 + Silent SNP C C T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr11:116729109C>T c.2754G>A c.(2752-2754)cgG>cgA p.R918R SKCM 11 116729110 116729110 + Missense_Mutation SNP C C T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr11:116729110C>T c.2753G>A c.(2752-2754)cGg>cAg p.R918Q SKCM 11 116729133 116729133 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr11:116729133G>A c.2730C>T c.(2728-2730)atC>atT p.I910I SKCM 11 116729203 116729203 + Missense_Mutation SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr11:116729203G>A c.2660C>T c.(2659-2661)tCg>tTg p.S887L SKCM 11 116729253 116729253 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr11:116729253G>A c.2610C>T c.(2608-2610)ttC>ttT p.F870F SKCM 11 116729357 116729357 + Silent SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr11:116729357G>A c.2506C>T c.(2506-2508)Ctg>Ttg p.L836L SKCM 11 116729393 116729393 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr11:116729393G>A c.2470C>T c.(2470-2472)Cct>Tct p.P824S SKCM 11 116730317 116730317 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:116730317G>A c.2111C>T c.(2110-2112)gCt>gTt p.A704V SKCM 11 116732000 116732000 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr11:116732000G>A c.2097C>T c.(2095-2097)atC>atT p.I699I SKCM 11 116732036 116732036 + Silent SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:116732036G>C c.2061C>G c.(2059-2061)ccC>ccG p.P687P SKCM 11 116732561 116732561 + Nonsense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr11:116732561G>A c.1993C>T c.(1993-1995)Cag>Tag p.Q665* SKCM 11 116744293 116744293 + Silent SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr11:116744293G>A c.1467C>T c.(1465-1467)ggC>ggT p.G489G SKCM 11 116744716 116744716 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:116744716G>A c.1310C>T c.(1309-1311)cCc>cTc p.P437L SKCM 11 116746668 116746668 + Nonsense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr11:116746668G>A c.979C>T c.(979-981)Cga>Tga p.R327* SKCM 11 116747031 116747031 + Silent SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr11:116747031G>A c.859C>T c.(859-861)Ctg>Ttg p.L287L SKCM 11 116798079 116798079 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:116798079C>G c.298G>C c.(298-300)Ggt>Cgt p.G100R SKCM 11 116824823 116824823 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr11:116824823C>T c.217G>A c.(217-219)Gtt>Att p.V73I SKCM 11 116827673 116827673 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr11:116827673C>T c.207G>A c.(205-207)agG>agA p.R69R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 11 116728760 116728760 single base substitution C G 3_prime_UTR_variant BLCA-CN 11 116728760 116728760 single base substitution C G exon_variant BLCA-CN 11 116728760 116728760 single base substitution C G missense_variant E1033Q 3097G>C BLCA-CN 11 116728760 116728760 single base substitution C G missense_variant E1035Q 3103G>C BLCA-CN 11 116728760 116728760 single base substitution C G missense_variant E1093Q 3277G>C BLCA-CN 11 116728760 116728760 single base substitution C G missense_variant E1134Q 3400G>C BLCA-CN 11 116728760 116728760 single base substitution C G missense_variant E370Q 1108G>C BLCA-CN 11 116728760 116728760 single base substitution C G missense_variant E874Q 2620G>C BLCA-CN 11 116728760 116728760 single base substitution C G missense_variant E975Q 2923G>C BLCA-CN 11 116798050 116798050 single base substitution C T 3_prime_UTR_variant BLCA-CN 11 116798050 116798050 single base substitution C T 5_prime_UTR_variant BLCA-CN 11 116798050 116798050 single base substitution C T exon_variant BLCA-CN 11 116798050 116798050 single base substitution C T synonymous_variant R109R 327G>A BLCA-CN 11 116798050 116798050 single base substitution C T synonymous_variant R160R 480G>A BLCA-CN 11 116798050 116798050 single base substitution C T synonymous_variant R167R 501G>A BLCA-CN 11 116798050 116798050 single base substitution C T synonymous_variant R69R 207G>A BLCA-CN 11 116798050 116798050 single base substitution C T synonymous_variant R8R 24G>A BOCA-FR 11 116758564 116758564 single base substitution C T intron_variant BRCA-EU 11 116710060 116710060 single base substitution C T downstream_gene_variant BRCA-EU 11 116710318 116710318 single base substitution G A downstream_gene_variant BRCA-EU 11 116713932 116713932 single base substitution T A downstream_gene_variant BRCA-EU 11 116714285 116714285 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 11 116714285 116714285 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 116714285 116714285 deletion of <=200bp T - exon_variant BRCA-EU 11 116714778 116714778 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 11 116714778 116714778 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 116714778 116714778 deletion of <=200bp A - exon_variant BRCA-EU 11 116715778 116715778 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 116715778 116715778 single base substitution C G downstream_gene_variant BRCA-EU 11 116715778 116715778 single base substitution C G exon_variant BRCA-EU 11 116716380 116716380 single base substitution G C intron_variant BRCA-EU 11 116716941 116716941 single base substitution T C intron_variant BRCA-EU 11 116718441 116718441 single base substitution C G intron_variant BRCA-EU 11 116722387 116722387 single base substitution A C intron_variant BRCA-EU 11 116722387 116722387 single base substitution A C upstream_gene_variant BRCA-EU 11 116722408 116722408 single base substitution G C intron_variant BRCA-EU 11 116722408 116722408 single base substitution G C upstream_gene_variant BRCA-EU 11 116726924 116726924 single base substitution A T downstream_gene_variant BRCA-EU 11 116726924 116726924 single base substitution A T intron_variant BRCA-EU 11 116729813 116729813 single base substitution G C intron_variant BRCA-EU 11 116730728 116730728 single base substitution C T intron_variant BRCA-EU 11 116731096 116731096 single base substitution C T intron_variant BRCA-EU 11 116732399 116732399 single base substitution T C intron_variant BRCA-EU 11 116732399 116732399 single base substitution T C upstream_gene_variant BRCA-EU 11 116732462 116732462 single base substitution G A intron_variant BRCA-EU 11 116732462 116732462 single base substitution G A upstream_gene_variant BRCA-EU 11 116738283 116738283 deletion of <=200bp G - downstream_gene_variant BRCA-EU 11 116738283 116738283 deletion of <=200bp G - intron_variant BRCA-EU 11 116738283 116738283 deletion of <=200bp G - upstream_gene_variant BRCA-EU 11 116738322 116738322 single base substitution C A downstream_gene_variant BRCA-EU 11 116738322 116738322 single base substitution C A intron_variant BRCA-EU 11 116738322 116738322 single base substitution C A upstream_gene_variant BRCA-EU 11 116738481 116738481 single base substitution G A downstream_gene_variant BRCA-EU 11 116738481 116738481 single base substitution G A exon_variant BRCA-EU 11 116738481 116738481 single base substitution G A intron_variant BRCA-EU 11 116738481 116738481 single base substitution G A upstream_gene_variant BRCA-EU 11 116740707 116740707 single base substitution A C 3_prime_UTR_variant BRCA-EU 11 116740707 116740707 single base substitution A C downstream_gene_variant BRCA-EU 11 116740707 116740707 single base substitution A C intron_variant BRCA-EU 11 116740707 116740707 single base substitution A C upstream_gene_variant BRCA-EU 11 116740813 116740821 deletion of <=200bp TTATGGTTA - 3_prime_UTR_variant BRCA-EU 11 116740813 116740821 deletion of <=200bp TTATGGTTA - downstream_gene_variant BRCA-EU 11 116740813 116740821 deletion of <=200bp TTATGGTTA - intron_variant BRCA-EU 11 116741927 116741927 single base substitution C T downstream_gene_variant BRCA-EU 11 116741927 116741927 single base substitution C T intron_variant BRCA-EU 11 116741927 116741927 single base substitution C T upstream_gene_variant BRCA-EU 11 116743646 116743646 deletion of <=200bp A - downstream_gene_variant BRCA-EU 11 116743646 116743646 deletion of <=200bp A - intron_variant BRCA-EU 11 116743646 116743646 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 116744637 116744637 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 116744637 116744637 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 116744637 116744637 single base substitution G A downstream_gene_variant BRCA-EU 11 116744637 116744637 single base substitution G A synonymous_variant T362T 1086C>T BRCA-EU 11 116744637 116744637 single base substitution G A synonymous_variant T415T 1245C>T BRCA-EU 11 116744637 116744637 single base substitution G A synonymous_variant T423T 1269C>T BRCA-EU 11 116744637 116744637 single base substitution G A synonymous_variant T463T 1389C>T BRCA-EU 11 116744637 116744637 single base substitution G A synonymous_variant T473T 1419C>T BRCA-EU 11 116744637 116744637 single base substitution G A synonymous_variant T514T 1542C>T BRCA-EU 11 116744637 116744637 single base substitution G A synonymous_variant T521T 1563C>T BRCA-EU 11 116744637 116744637 single base substitution G A upstream_gene_variant BRCA-EU 11 116745635 116745635 single base substitution G A intron_variant BRCA-EU 11 116745635 116745635 single base substitution G A upstream_gene_variant BRCA-EU 11 116748851 116748851 single base substitution T G intron_variant BRCA-EU 11 116748851 116748851 single base substitution T G upstream_gene_variant BRCA-EU 11 116749550 116749550 single base substitution T C intron_variant BRCA-EU 11 116749550 116749550 single base substitution T C upstream_gene_variant BRCA-EU 11 116749873 116749873 single base substitution C G intron_variant BRCA-EU 11 116749873 116749873 single base substitution C G upstream_gene_variant BRCA-EU 11 116750376 116750376 single base substitution G C intron_variant BRCA-EU 11 116750376 116750376 single base substitution G C upstream_gene_variant BRCA-EU 11 116750829 116750829 insertion of <=200bp - T intron_variant BRCA-EU 11 116750829 116750829 insertion of <=200bp - T upstream_gene_variant BRCA-EU 11 116751235 116751235 single base substitution G A intron_variant BRCA-EU 11 116751573 116751573 single base substitution C T intron_variant BRCA-EU 11 116752261 116752261 insertion of <=200bp - T intron_variant BRCA-EU 11 116752457 116752457 single base substitution G T intron_variant BRCA-EU 11 116753593 116753593 single base substitution C G intron_variant BRCA-EU 11 116755742 116755742 single base substitution G A intron_variant BRCA-EU 11 116758060 116758060 single base substitution C T intron_variant BRCA-EU 11 116760634 116760634 single base substitution A T downstream_gene_variant BRCA-EU 11 116760634 116760634 single base substitution A T intron_variant BRCA-EU 11 116761319 116761319 single base substitution G C downstream_gene_variant BRCA-EU 11 116761319 116761319 single base substitution G C intron_variant BRCA-EU 11 116765190 116765190 single base substitution C T intron_variant BRCA-EU 11 116766382 116766382 single base substitution C T intron_variant BRCA-EU 11 116767011 116767011 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 116767011 116767011 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 116767011 116767011 single base substitution C T exon_variant BRCA-EU 11 116767011 116767011 single base substitution C T missense_variant V116M 346G>A BRCA-EU 11 116767011 116767011 single base substitution C T missense_variant V177M 529G>A BRCA-EU 11 116767011 116767011 single base substitution C T missense_variant V217M 649G>A BRCA-EU 11 116767011 116767011 single base substitution C T missense_variant V268M 802G>A BRCA-EU 11 116767011 116767011 single base substitution C T missense_variant V275M 823G>A BRCA-EU 11 116767690 116767690 single base substitution C A intron_variant BRCA-EU 11 116767711 116767711 single base substitution C G intron_variant BRCA-EU 11 116769618 116769618 single base substitution T G intron_variant BRCA-EU 11 116770018 116770018 single base substitution G C intron_variant BRCA-EU 11 116770035 116770035 single base substitution C A intron_variant BRCA-EU 11 116770462 116770462 single base substitution G A downstream_gene_variant BRCA-EU 11 116770462 116770462 single base substitution G A intron_variant BRCA-EU 11 116770760 116770760 single base substitution A G downstream_gene_variant BRCA-EU 11 116770760 116770760 single base substitution A G intron_variant BRCA-EU 11 116772685 116772685 single base substitution G A downstream_gene_variant BRCA-EU 11 116772685 116772685 single base substitution G A intron_variant BRCA-EU 11 116773112 116773112 single base substitution T G downstream_gene_variant BRCA-EU 11 116773112 116773112 single base substitution T G intron_variant BRCA-EU 11 116773605 116773605 single base substitution G A downstream_gene_variant BRCA-EU 11 116773605 116773605 single base substitution G A intron_variant BRCA-EU 11 116773843 116773843 single base substitution A G downstream_gene_variant BRCA-EU 11 116773843 116773843 single base substitution A G intron_variant BRCA-EU 11 116773918 116773918 single base substitution G A downstream_gene_variant BRCA-EU 11 116773918 116773918 single base substitution G A intron_variant BRCA-EU 11 116774414 116774414 single base substitution C T downstream_gene_variant BRCA-EU 11 116774414 116774414 single base substitution C T intron_variant BRCA-EU 11 116774650 116774650 single base substitution C A downstream_gene_variant BRCA-EU 11 116774650 116774650 single base substitution C A intron_variant BRCA-EU 11 116776812 116776812 single base substitution G A intron_variant BRCA-EU 11 116776910 116776910 insertion of <=200bp - A intron_variant BRCA-EU 11 116777882 116777882 single base substitution T C intron_variant BRCA-EU 11 116778254 116778254 single base substitution C A intron_variant BRCA-EU 11 116778809 116778809 single base substitution C T intron_variant BRCA-EU 11 116780218 116780218 single base substitution A G intron_variant BRCA-EU 11 116780963 116780963 deletion of <=200bp A - intron_variant BRCA-EU 11 116781546 116781546 insertion of <=200bp - A intron_variant BRCA-EU 11 116784019 116784019 single base substitution A C intron_variant BRCA-EU 11 116784593 116784593 single base substitution G T intron_variant BRCA-EU 11 116785438 116785438 single base substitution A C intron_variant BRCA-EU 11 116785690 116785690 single base substitution T G intron_variant BRCA-EU 11 116787229 116787229 single base substitution T A intron_variant BRCA-EU 11 116788449 116788449 single base substitution A G intron_variant BRCA-EU 11 116790182 116790182 single base substitution G C intron_variant BRCA-EU 11 116791371 116791371 single base substitution G C intron_variant BRCA-EU 11 116791705 116791705 single base substitution G T intron_variant BRCA-EU 11 116792025 116792025 single base substitution T C intron_variant BRCA-EU 11 116792278 116792278 single base substitution G T intron_variant BRCA-EU 11 116798131 116798131 single base substitution T G intron_variant BRCA-EU 11 116798463 116798463 deletion of <=200bp G - intron_variant BRCA-EU 11 116799359 116799359 single base substitution A G intron_variant BRCA-EU 11 116799512 116799512 single base substitution G C intron_variant BRCA-EU 11 116800031 116800031 single base substitution G A intron_variant BRCA-EU 11 116803547 116803547 single base substitution G C intron_variant BRCA-EU 11 116804177 116804177 single base substitution G A intron_variant BRCA-EU 11 116804303 116804303 single base substitution T C intron_variant BRCA-EU 11 116806027 116806027 single base substitution A G intron_variant BRCA-EU 11 116806461 116806461 single base substitution G A intron_variant BRCA-EU 11 116807968 116807968 single base substitution G A intron_variant BRCA-EU 11 116809759 116809759 single base substitution A G intron_variant BRCA-EU 11 116810484 116810484 single base substitution C G intron_variant BRCA-EU 11 116810752 116810754 deletion of <=200bp TGT - intron_variant BRCA-EU 11 116811033 116811033 single base substitution C A intron_variant BRCA-EU 11 116811447 116811447 single base substitution G A intron_variant BRCA-EU 11 116815489 116815489 deletion of <=200bp T - intron_variant BRCA-EU 11 116817337 116817337 single base substitution C T intron_variant BRCA-EU 11 116817564 116817564 single base substitution G A intron_variant BRCA-EU 11 116817821 116817821 single base substitution C T intron_variant BRCA-EU 11 116818826 116818826 insertion of <=200bp - T intron_variant BRCA-EU 11 116819805 116819805 single base substitution G C intron_variant BRCA-EU 11 116824435 116824435 single base substitution C G intron_variant BRCA-EU 11 116825813 116825813 single base substitution C T intron_variant BRCA-EU 11 116826082 116826082 single base substitution C G intron_variant BRCA-EU 11 116827844 116827844 single base substitution A C intron_variant BRCA-EU 11 116827844 116827844 single base substitution A C upstream_gene_variant BRCA-EU 11 116828914 116828914 single base substitution G C intron_variant BRCA-EU 11 116828914 116828914 single base substitution G C upstream_gene_variant BRCA-EU 11 116829454 116829454 single base substitution T A intron_variant BRCA-EU 11 116829454 116829454 single base substitution T A upstream_gene_variant BRCA-EU 11 116830496 116830496 single base substitution C G intron_variant BRCA-EU 11 116830496 116830496 single base substitution C G upstream_gene_variant BRCA-EU 11 116833404 116833404 single base substitution A T intron_variant BRCA-EU 11 116834412 116834412 single base substitution T C intron_variant BRCA-EU 11 116835123 116835123 single base substitution T A intron_variant BRCA-EU 11 116835135 116835135 single base substitution C A intron_variant BRCA-EU 11 116835905 116835905 single base substitution C G intron_variant BRCA-EU 11 116837330 116837330 single base substitution G A intron_variant BRCA-EU 11 116837338 116837338 single base substitution C T intron_variant BRCA-EU 11 116838524 116838524 single base substitution G A intron_variant BRCA-EU 11 116839128 116839128 single base substitution G A intron_variant BRCA-EU 11 116840446 116840446 single base substitution C G intron_variant BRCA-EU 11 116841335 116841335 single base substitution G T intron_variant BRCA-EU 11 116841971 116841971 single base substitution G C intron_variant BRCA-EU 11 116844286 116844286 single base substitution A G intron_variant BRCA-EU 11 116846038 116846038 deletion of <=200bp A - intron_variant BRCA-EU 11 116846322 116846322 single base substitution C G intron_variant BRCA-EU 11 116846817 116846817 single base substitution G C intron_variant BRCA-EU 11 116848866 116848866 single base substitution G A intron_variant BRCA-EU 11 116849884 116849884 single base substitution T G intron_variant BRCA-EU 11 116850000 116850000 single base substitution G T intron_variant BRCA-EU 11 116852282 116852282 single base substitution G C intron_variant BRCA-EU 11 116853431 116853431 single base substitution G A intron_variant BRCA-EU 11 116853470 116853470 single base substitution G T intron_variant BRCA-EU 11 116853523 116853523 single base substitution G C intron_variant BRCA-EU 11 116853561 116853561 single base substitution G A intron_variant BRCA-EU 11 116854636 116854636 single base substitution A G intron_variant BRCA-EU 11 116855502 116855502 single base substitution G A intron_variant BRCA-EU 11 116856795 116856795 single base substitution G A intron_variant BRCA-EU 11 116858664 116858664 single base substitution G C intron_variant BRCA-EU 11 116858927 116858927 single base substitution C T intron_variant BRCA-EU 11 116859201 116859201 single base substitution G A intron_variant BRCA-EU 11 116859671 116859671 deletion of <=200bp A - intron_variant BRCA-EU 11 116859922 116859922 single base substitution T C intron_variant BRCA-EU 11 116860638 116860638 single base substitution G A intron_variant BRCA-EU 11 116861499 116861499 single base substitution C A intron_variant BRCA-EU 11 116861807 116861807 single base substitution G A intron_variant BRCA-EU 11 116862383 116862386 deletion of <=200bp AAGT - intron_variant BRCA-EU 11 116863043 116863043 insertion of <=200bp - A intron_variant BRCA-EU 11 116863115 116863115 single base substitution G A intron_variant BRCA-EU 11 116865259 116865259 single base substitution G C intron_variant BRCA-EU 11 116865318 116865318 single base substitution G C intron_variant BRCA-EU 11 116868355 116868355 single base substitution G C intron_variant BRCA-EU 11 116868606 116868606 single base substitution C G intron_variant BRCA-EU 11 116868685 116868685 single base substitution C A intron_variant BRCA-EU 11 116869276 116869276 single base substitution G C intron_variant BRCA-EU 11 116871621 116871621 single base substitution G C intron_variant BRCA-EU 11 116872337 116872337 single base substitution G A intron_variant BRCA-EU 11 116872933 116872933 single base substitution A G intron_variant BRCA-EU 11 116874789 116874789 single base substitution C G intron_variant BRCA-EU 11 116877054 116877054 single base substitution A G intron_variant BRCA-EU 11 116877202 116877202 single base substitution G A intron_variant BRCA-EU 11 116879568 116879568 single base substitution C G intron_variant BRCA-EU 11 116879927 116879927 single base substitution C T intron_variant BRCA-EU 11 116882001 116882001 single base substitution A T intron_variant BRCA-EU 11 116882046 116882046 single base substitution G C intron_variant BRCA-EU 11 116882462 116882462 single base substitution G A intron_variant BRCA-EU 11 116882575 116882575 single base substitution C T intron_variant BRCA-EU 11 116883256 116883256 deletion of <=200bp A - intron_variant BRCA-EU 11 116884113 116884113 single base substitution G C intron_variant BRCA-EU 11 116885905 116885905 deletion of <=200bp A - intron_variant BRCA-EU 11 116887027 116887027 single base substitution G A intron_variant BRCA-EU 11 116888564 116888564 single base substitution C T intron_variant BRCA-EU 11 116888812 116888812 single base substitution G A intron_variant BRCA-EU 11 116889141 116889141 single base substitution A C intron_variant BRCA-EU 11 116890203 116890203 insertion of <=200bp - T intron_variant BRCA-EU 11 116890363 116890363 single base substitution G A intron_variant BRCA-EU 11 116890390 116890390 single base substitution C T intron_variant BRCA-EU 11 116892910 116892910 single base substitution G C intron_variant BRCA-EU 11 116893178 116893178 single base substitution T G intron_variant BRCA-EU 11 116897632 116897632 single base substitution G C intron_variant BRCA-EU 11 116899284 116899284 single base substitution T C intron_variant BRCA-EU 11 116899332 116899332 single base substitution G T intron_variant BRCA-EU 11 116901238 116901238 single base substitution T C intron_variant BRCA-EU 11 116901407 116901408 deletion of <=200bp AC - intron_variant BRCA-EU 11 116904267 116904267 deletion of <=200bp A - intron_variant BRCA-EU 11 116905937 116905937 single base substitution T A intron_variant BRCA-EU 11 116906922 116906922 single base substitution C T intron_variant BRCA-EU 11 116906950 116906950 single base substitution A T intron_variant BRCA-EU 11 116909934 116909934 single base substitution A G intron_variant BRCA-EU 11 116910775 116910775 single base substitution G T intron_variant BRCA-EU 11 116910937 116910937 single base substitution A G intron_variant BRCA-EU 11 116911945 116911945 single base substitution A G intron_variant BRCA-EU 11 116911989 116911989 single base substitution G C intron_variant BRCA-EU 11 116912264 116912264 single base substitution C A intron_variant BRCA-EU 11 116914505 116914505 single base substitution T C intron_variant BRCA-EU 11 116914540 116914540 single base substitution G A intron_variant BRCA-EU 11 116915428 116915428 single base substitution C G intron_variant BRCA-EU 11 116916191 116916191 single base substitution G A intron_variant BRCA-EU 11 116916618 116916618 deletion of <=200bp T - intron_variant BRCA-EU 11 116919827 116919827 single base substitution T A intron_variant BRCA-EU 11 116919856 116919856 single base substitution T C intron_variant BRCA-EU 11 116920295 116920295 single base substitution A G intron_variant BRCA-EU 11 116920503 116920503 single base substitution C G intron_variant BRCA-EU 11 116920533 116920533 single base substitution T C intron_variant BRCA-EU 11 116920756 116920756 single base substitution C G intron_variant BRCA-EU 11 116921452 116921452 deletion of <=200bp T - intron_variant BRCA-EU 11 116922184 116922184 single base substitution C G intron_variant BRCA-EU 11 116922250 116922250 insertion of <=200bp - T intron_variant BRCA-EU 11 116922854 116922854 deletion of <=200bp A - intron_variant BRCA-EU 11 116924301 116924301 single base substitution A G intron_variant BRCA-EU 11 116924872 116924872 single base substitution G A intron_variant BRCA-EU 11 116926938 116926938 single base substitution G C intron_variant BRCA-EU 11 116928077 116928077 single base substitution G A intron_variant BRCA-EU 11 116928732 116928739 multiple base substitution (>=2bp and <=200bp) TTGAGAAA TC intron_variant BRCA-EU 11 116931415 116931415 single base substitution G C intron_variant BRCA-EU 11 116932558 116932558 single base substitution A G intron_variant BRCA-EU 11 116932922 116932922 single base substitution C A intron_variant BRCA-EU 11 116938282 116938282 single base substitution G C intron_variant BRCA-EU 11 116938856 116938856 single base substitution T A intron_variant BRCA-EU 11 116939414 116939414 single base substitution G A intron_variant BRCA-EU 11 116939457 116939457 single base substitution G C intron_variant BRCA-EU 11 116941585 116941585 single base substitution C A intron_variant BRCA-EU 11 116942104 116942104 single base substitution C T intron_variant BRCA-EU 11 116942105 116942105 single base substitution G C intron_variant BRCA-EU 11 116942155 116942155 single base substitution G C intron_variant BRCA-EU 11 116944772 116944772 single base substitution G C intron_variant BRCA-EU 11 116944784 116944784 single base substitution T G intron_variant BRCA-EU 11 116946358 116946358 single base substitution C T intron_variant BRCA-EU 11 116948473 116948473 single base substitution C T intron_variant BRCA-EU 11 116948761 116948761 single base substitution G C intron_variant BRCA-EU 11 116950458 116950458 deletion of <=200bp A - intron_variant BRCA-EU 11 116950476 116950476 single base substitution C A intron_variant BRCA-EU 11 116951968 116951968 single base substitution T C intron_variant BRCA-EU 11 116954976 116954976 single base substitution G T intron_variant BRCA-EU 11 116956367 116956367 single base substitution A G intron_variant BRCA-EU 11 116957251 116957251 insertion of <=200bp - A intron_variant BRCA-EU 11 116958285 116958285 single base substitution G C intron_variant BRCA-EU 11 116962871 116962871 single base substitution C T intron_variant BRCA-EU 11 116963177 116963177 deletion of <=200bp C - intron_variant BRCA-EU 11 116964390 116964390 single base substitution A C intron_variant BRCA-EU 11 116965647 116965647 single base substitution T A intron_variant BRCA-EU 11 116967385 116967385 single base substitution G T intron_variant BRCA-EU 11 116970184 116970184 single base substitution T G upstream_gene_variant BRCA-EU 11 116970961 116970961 single base substitution G A upstream_gene_variant BRCA-EU 11 116972931 116972931 single base substitution C G upstream_gene_variant BRCA-FR 11 116749873 116749873 single base substitution C G intron_variant BRCA-FR 11 116749873 116749873 single base substitution C G upstream_gene_variant BRCA-FR 11 116753593 116753593 single base substitution C G intron_variant BRCA-FR 11 116766382 116766382 single base substitution C T intron_variant BRCA-FR 11 116791705 116791705 single base substitution G T intron_variant BRCA-FR 11 116792025 116792025 single base substitution T C intron_variant BRCA-FR 11 116793003 116793003 single base substitution G A intron_variant BRCA-FR 11 116793070 116793070 single base substitution G A intron_variant BRCA-FR 11 116834412 116834412 single base substitution T C intron_variant BRCA-FR 11 116852282 116852282 single base substitution G C intron_variant BRCA-FR 11 116853431 116853431 single base substitution G A intron_variant BRCA-FR 11 116868606 116868606 single base substitution C G intron_variant BRCA-FR 11 116877978 116877978 single base substitution C A intron_variant BRCA-FR 11 116884327 116884327 single base substitution C T intron_variant BRCA-FR 11 116888812 116888812 single base substitution G A intron_variant BRCA-FR 11 116889363 116889363 single base substitution C T intron_variant BRCA-FR 11 116890242 116890242 single base substitution C G intron_variant BRCA-FR 11 116892900 116892900 single base substitution T C intron_variant BRCA-FR 11 116899332 116899332 single base substitution G T intron_variant BRCA-FR 11 116938282 116938282 single base substitution G C intron_variant BRCA-FR 11 116963233 116963233 single base substitution G T intron_variant BRCA-FR 11 116969709 116969709 single base substitution A G upstream_gene_variant BRCA-UK 11 116738283 116738283 deletion of <=200bp G - downstream_gene_variant BRCA-UK 11 116738283 116738283 deletion of <=200bp G - intron_variant BRCA-UK 11 116738283 116738283 deletion of <=200bp G - upstream_gene_variant BRCA-UK 11 116744390 116744390 single base substitution G A downstream_gene_variant BRCA-UK 11 116744390 116744390 single base substitution G A intron_variant BRCA-UK 11 116744390 116744390 single base substitution G A upstream_gene_variant BRCA-UK 11 116752948 116752948 single base substitution G C intron_variant BRCA-UK 11 116811033 116811033 single base substitution C A intron_variant BRCA-UK 11 116846817 116846817 single base substitution G C intron_variant BRCA-UK 11 116868685 116868685 single base substitution C A intron_variant BRCA-UK 11 116889437 116889437 single base substitution T A intron_variant BRCA-UK 11 116892241 116892241 single base substitution C G intron_variant BRCA-UK 11 116893275 116893275 single base substitution C G intron_variant BRCA-UK 11 116901576 116901576 single base substitution G C intron_variant BRCA-UK 11 116909934 116909934 single base substitution A G intron_variant BRCA-UK 11 116951947 116951947 single base substitution G A intron_variant BRCA-UK 11 116969321 116969321 single base substitution G T upstream_gene_variant BRCA-US 11 116730052 116730052 single base substitution C T 3_prime_UTR_variant BRCA-US 11 116730052 116730052 single base substitution C T exon_variant BRCA-US 11 116730052 116730052 single base substitution C T synonymous_variant L187L 561G>A BRCA-US 11 116730052 116730052 single base substitution C T synonymous_variant L691L 2073G>A BRCA-US 11 116730052 116730052 single base substitution C T synonymous_variant L792L 2376G>A BRCA-US 11 116730052 116730052 single base substitution C T synonymous_variant L850L 2550G>A BRCA-US 11 116730052 116730052 single base substitution C T synonymous_variant L891L 2673G>A BRCA-US 11 116732018 116732018 deletion of <=200bp G - 3_prime_UTR_variant BRCA-US 11 116732018 116732018 deletion of <=200bp G - exon_variant BRCA-US 11 116732018 116732018 deletion of <=200bp G - frameshift_variant P592 BRCA-US 11 116732018 116732018 deletion of <=200bp G - frameshift_variant P693 BRCA-US 11 116732018 116732018 deletion of <=200bp G - frameshift_variant P751 BRCA-US 11 116732018 116732018 deletion of <=200bp G - frameshift_variant P792 BRCA-US 11 116732018 116732018 deletion of <=200bp G - intron_variant BRCA-US 11 116732606 116732606 single base substitution G A 3_prime_UTR_variant BRCA-US 11 116732606 116732606 single base substitution G A exon_variant BRCA-US 11 116732606 116732606 single base substitution G A stop_gained Q549* 1645C>T BRCA-US 11 116732606 116732606 single base substitution G A stop_gained Q650* 1948C>T BRCA-US 11 116732606 116732606 single base substitution G A stop_gained Q708* 2122C>T BRCA-US 11 116732606 116732606 single base substitution G A stop_gained Q749* 2245C>T BRCA-US 11 116732606 116732606 single base substitution G A synonymous_variant F81F 243C>T BRCA-US 11 116732606 116732606 single base substitution G A upstream_gene_variant BRCA-US 11 116734457 116734457 single base substitution G A 3_prime_UTR_variant BRCA-US 11 116734457 116734457 single base substitution G A downstream_gene_variant BRCA-US 11 116734457 116734457 single base substitution G A exon_variant BRCA-US 11 116734457 116734457 single base substitution G A missense_variant A470V 1409C>T BRCA-US 11 116734457 116734457 single base substitution G A missense_variant A571V 1712C>T BRCA-US 11 116734457 116734457 single base substitution G A missense_variant A629V 1886C>T BRCA-US 11 116734457 116734457 single base substitution G A missense_variant A670V 2009C>T BRCA-US 11 116734457 116734457 single base substitution G A synonymous_variant L3L 7C>T BRCA-US 11 116734457 116734457 single base substitution G A upstream_gene_variant BRCA-US 11 116747071 116747071 single base substitution A G 3_prime_UTR_variant BRCA-US 11 116747071 116747071 single base substitution A G 5_prime_UTR_variant BRCA-US 11 116747071 116747071 single base substitution A G synonymous_variant A172A 516T>C BRCA-US 11 116747071 116747071 single base substitution A G synonymous_variant A233A 699T>C BRCA-US 11 116747071 116747071 single base substitution A G synonymous_variant A273A 819T>C BRCA-US 11 116747071 116747071 single base substitution A G synonymous_variant A324A 972T>C BRCA-US 11 116747071 116747071 single base substitution A G synonymous_variant A331A 993T>C BRCA-US 11 116747071 116747071 single base substitution A G upstream_gene_variant BRCA-US 11 116766967 116766967 single base substitution A G splice_donor_variant BRCA-US 11 116798097 116798097 single base substitution C A splice_acceptor_variant BRCA-US 11 116827664 116827664 single base substitution C T splice_region_variant BRCA-US 11 116827720 116827720 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 116827720 116827720 single base substitution G A exon_variant BRCA-US 11 116827720 116827720 single base substitution G A missense_variant R105W 313C>T BRCA-US 11 116827720 116827720 single base substitution G A missense_variant R112W 334C>T BRCA-US 11 116827720 116827720 single base substitution G A missense_variant R14W 40C>T BRCA-US 11 116827720 116827720 single base substitution G A missense_variant R54W 160C>T BRCA-US 11 116827733 116827733 single base substitution C T 5_prime_UTR_variant BRCA-US 11 116827733 116827733 single base substitution C T exon_variant BRCA-US 11 116827733 116827733 single base substitution C T synonymous_variant L100L 300G>A BRCA-US 11 116827733 116827733 single base substitution C T synonymous_variant L107L 321G>A BRCA-US 11 116827733 116827733 single base substitution C T synonymous_variant L49L 147G>A BRCA-US 11 116827733 116827733 single base substitution C T synonymous_variant L9L 27G>A BRCA-US 11 116827762 116827762 single base substitution C G 5_prime_UTR_variant BRCA-US 11 116827762 116827762 single base substitution C G exon_variant BRCA-US 11 116827762 116827762 single base substitution C G missense_variant D40H 118G>C BRCA-US 11 116827762 116827762 single base substitution C G missense_variant D91H 271G>C BRCA-US 11 116827762 116827762 single base substitution C G missense_variant D98H 292G>C BRCA-US 11 116827762 116827762 single base substitution C G upstream_gene_variant BTCA-JP 11 116744637 116744637 single base substitution G C 3_prime_UTR_variant BTCA-JP 11 116744637 116744637 single base substitution G C 5_prime_UTR_variant BTCA-JP 11 116744637 116744637 single base substitution G C downstream_gene_variant BTCA-JP 11 116744637 116744637 single base substitution G C synonymous_variant T362T 1086C>G BTCA-JP 11 116744637 116744637 single base substitution G C synonymous_variant T415T 1245C>G BTCA-JP 11 116744637 116744637 single base substitution G C synonymous_variant T423T 1269C>G BTCA-JP 11 116744637 116744637 single base substitution G C synonymous_variant T463T 1389C>G BTCA-JP 11 116744637 116744637 single base substitution G C synonymous_variant T473T 1419C>G BTCA-JP 11 116744637 116744637 single base substitution G C synonymous_variant T514T 1542C>G BTCA-JP 11 116744637 116744637 single base substitution G C synonymous_variant T521T 1563C>G BTCA-JP 11 116744637 116744637 single base substitution G C upstream_gene_variant BTCA-JP 11 116746134 116746134 single base substitution C T 3_prime_UTR_variant BTCA-JP 11 116746134 116746134 single base substitution C T 5_prime_UTR_variant BTCA-JP 11 116746134 116746134 single base substitution C T exon_variant BTCA-JP 11 116746134 116746134 single base substitution C T missense_variant V266I 796G>A BTCA-JP 11 116746134 116746134 single base substitution C T missense_variant V319I 955G>A BTCA-JP 11 116746134 116746134 single base substitution C T missense_variant V327I 979G>A BTCA-JP 11 116746134 116746134 single base substitution C T missense_variant V367I 1099G>A BTCA-JP 11 116746134 116746134 single base substitution C T missense_variant V377I 1129G>A BTCA-JP 11 116746134 116746134 single base substitution C T missense_variant V418I 1252G>A BTCA-JP 11 116746134 116746134 single base substitution C T missense_variant V425I 1273G>A BTCA-JP 11 116746134 116746134 single base substitution C T upstream_gene_variant BTCA-JP 11 116746872 116746872 deletion of <=200bp A - intron_variant BTCA-JP 11 116746872 116746872 deletion of <=200bp A - upstream_gene_variant CESC-US 11 116728696 116728696 single base substitution G C 3_prime_UTR_variant CESC-US 11 116728696 116728696 single base substitution G C exon_variant CESC-US 11 116728696 116728696 single base substitution G C stop_gained S1054* 3161C>G CESC-US 11 116728696 116728696 single base substitution G C stop_gained S1056* 3167C>G CESC-US 11 116728696 116728696 single base substitution G C stop_gained S1114* 3341C>G CESC-US 11 116728696 116728696 single base substitution G C stop_gained S1155* 3464C>G CESC-US 11 116728696 116728696 single base substitution G C stop_gained S391* 1172C>G CESC-US 11 116728696 116728696 single base substitution G C stop_gained S895* 2684C>G CESC-US 11 116728696 116728696 single base substitution G C stop_gained S996* 2987C>G CLLE-ES 11 116740883 116740883 single base substitution C T 3_prime_UTR_variant CLLE-ES 11 116740883 116740883 single base substitution C T downstream_gene_variant CLLE-ES 11 116740883 116740883 single base substitution C T exon_variant CLLE-ES 11 116740883 116740883 single base substitution C T intron_variant CLLE-ES 11 116746457 116746457 single base substitution C T intron_variant CLLE-ES 11 116746457 116746457 single base substitution C T upstream_gene_variant CLLE-ES 11 116756499 116756499 single base substitution G A intron_variant CLLE-ES 11 116763869 116763869 single base substitution A G downstream_gene_variant CLLE-ES 11 116763869 116763869 single base substitution A G intron_variant CLLE-ES 11 116771158 116771158 single base substitution C G downstream_gene_variant CLLE-ES 11 116771158 116771158 single base substitution C G intron_variant CLLE-ES 11 116812908 116812908 single base substitution T C intron_variant CLLE-ES 11 116819570 116819570 single base substitution A G intron_variant CLLE-ES 11 116832353 116832353 single base substitution T C intron_variant CLLE-ES 11 116832353 116832353 single base substitution T C upstream_gene_variant CLLE-ES 11 116833176 116833176 single base substitution T A intron_variant CLLE-ES 11 116868953 116868953 single base substitution T C intron_variant CLLE-ES 11 116874644 116874644 single base substitution C T intron_variant CLLE-ES 11 116902460 116902460 single base substitution T C intron_variant CLLE-ES 11 116929676 116929676 single base substitution C G intron_variant CLLE-ES 11 116942176 116942176 single base substitution G T intron_variant CLLE-ES 11 116942476 116942476 single base substitution T C intron_variant CLLE-ES 11 116947271 116947271 single base substitution C T intron_variant CLLE-ES 11 116953135 116953135 single base substitution C A intron_variant CLLE-ES 11 116956828 116956828 single base substitution A G intron_variant CLLE-ES 11 116964705 116964705 single base substitution T C intron_variant COAD-US 11 116728620 116728620 single base substitution C T 3_prime_UTR_variant COAD-US 11 116728620 116728620 single base substitution C T exon_variant COAD-US 11 116728620 116728620 single base substitution C T synonymous_variant L1021L 3063G>A COAD-US 11 116728620 116728620 single base substitution C T synonymous_variant L1079L 3237G>A COAD-US 11 116728620 116728620 single base substitution C T synonymous_variant L1081L 3243G>A COAD-US 11 116728620 116728620 single base substitution C T synonymous_variant L1139L 3417G>A COAD-US 11 116728620 116728620 single base substitution C T synonymous_variant L1180L 3540G>A COAD-US 11 116728620 116728620 single base substitution C T synonymous_variant L416L 1248G>A COAD-US 11 116728620 116728620 single base substitution C T synonymous_variant L920L 2760G>A COAD-US 11 116730133 116730133 single base substitution G A 3_prime_UTR_variant COAD-US 11 116730133 116730133 single base substitution G A exon_variant COAD-US 11 116730133 116730133 single base substitution G A synonymous_variant G160G 480C>T COAD-US 11 116730133 116730133 single base substitution G A synonymous_variant G664G 1992C>T COAD-US 11 116730133 116730133 single base substitution G A synonymous_variant G765G 2295C>T COAD-US 11 116730133 116730133 single base substitution G A synonymous_variant G823G 2469C>T COAD-US 11 116730133 116730133 single base substitution G A synonymous_variant G864G 2592C>T COAD-US 11 116734436 116734436 single base substitution T C 3_prime_UTR_variant COAD-US 11 116734436 116734436 single base substitution T C downstream_gene_variant COAD-US 11 116734436 116734436 single base substitution T C exon_variant COAD-US 11 116734436 116734436 single base substitution T C missense_variant K10E 28A>G COAD-US 11 116734436 116734436 single base substitution T C missense_variant K477R 1430A>G COAD-US 11 116734436 116734436 single base substitution T C missense_variant K578R 1733A>G COAD-US 11 116734436 116734436 single base substitution T C missense_variant K636R 1907A>G COAD-US 11 116734436 116734436 single base substitution T C missense_variant K677R 2030A>G COAD-US 11 116734436 116734436 single base substitution T C upstream_gene_variant COAD-US 11 116734507 116734507 single base substitution C A 3_prime_UTR_variant COAD-US 11 116734507 116734507 single base substitution C A 5_prime_UTR_variant COAD-US 11 116734507 116734507 single base substitution C A downstream_gene_variant COAD-US 11 116734507 116734507 single base substitution C A exon_variant COAD-US 11 116734507 116734507 single base substitution C A synonymous_variant L453L 1359G>T COAD-US 11 116734507 116734507 single base substitution C A synonymous_variant L554L 1662G>T COAD-US 11 116734507 116734507 single base substitution C A synonymous_variant L612L 1836G>T COAD-US 11 116734507 116734507 single base substitution C A synonymous_variant L653L 1959G>T COAD-US 11 116734507 116734507 single base substitution C A upstream_gene_variant COAD-US 11 116767060 116767060 single base substitution G A 3_prime_UTR_variant COAD-US 11 116767060 116767060 single base substitution G A 5_prime_UTR_variant COAD-US 11 116767060 116767060 single base substitution G A exon_variant COAD-US 11 116767060 116767060 single base substitution G A synonymous_variant C160C 480C>T COAD-US 11 116767060 116767060 single base substitution G A synonymous_variant C200C 600C>T COAD-US 11 116767060 116767060 single base substitution G A synonymous_variant C251C 753C>T COAD-US 11 116767060 116767060 single base substitution G A synonymous_variant C258C 774C>T COAD-US 11 116767060 116767060 single base substitution G A synonymous_variant C99C 297C>T COAD-US 11 116797997 116797997 single base substitution A C 3_prime_UTR_variant COAD-US 11 116797997 116797997 single base substitution A C 5_prime_UTR_variant COAD-US 11 116797997 116797997 single base substitution A C exon_variant COAD-US 11 116797997 116797997 single base substitution A C missense_variant V127G 380T>G COAD-US 11 116797997 116797997 single base substitution A C missense_variant V178G 533T>G COAD-US 11 116797997 116797997 single base substitution A C missense_variant V185G 554T>G COAD-US 11 116797997 116797997 single base substitution A C missense_variant V26G 77T>G COAD-US 11 116797997 116797997 single base substitution A C missense_variant V87G 260T>G COAD-US 11 116798004 116798004 single base substitution T A 3_prime_UTR_variant COAD-US 11 116798004 116798004 single base substitution T A 5_prime_UTR_variant COAD-US 11 116798004 116798004 single base substitution T A exon_variant COAD-US 11 116798004 116798004 single base substitution T A missense_variant N125Y 373A>T COAD-US 11 116798004 116798004 single base substitution T A missense_variant N176Y 526A>T COAD-US 11 116798004 116798004 single base substitution T A missense_variant N183Y 547A>T COAD-US 11 116798004 116798004 single base substitution T A missense_variant N24Y 70A>T COAD-US 11 116798004 116798004 single base substitution T A missense_variant N85Y 253A>T COCA-CN 11 116728595 116728595 single base substitution C A 3_prime_UTR_variant COCA-CN 11 116728595 116728595 single base substitution C A exon_variant COCA-CN 11 116728595 116728595 single base substitution C A stop_gained E1030* 3088G>T COCA-CN 11 116728595 116728595 single base substitution C A stop_gained E1088* 3262G>T COCA-CN 11 116728595 116728595 single base substitution C A stop_gained E1090* 3268G>T COCA-CN 11 116728595 116728595 single base substitution C A stop_gained E1148* 3442G>T COCA-CN 11 116728595 116728595 single base substitution C A stop_gained E1189* 3565G>T COCA-CN 11 116728595 116728595 single base substitution C A stop_gained E425* 1273G>T COCA-CN 11 116728595 116728595 single base substitution C A stop_gained E929* 2785G>T COCA-CN 11 116728738 116728738 single base substitution G A 3_prime_UTR_variant COCA-CN 11 116728738 116728738 single base substitution G A exon_variant COCA-CN 11 116728738 116728738 single base substitution G A missense_variant S1040L 3119C>T COCA-CN 11 116728738 116728738 single base substitution G A missense_variant S1042L 3125C>T COCA-CN 11 116728738 116728738 single base substitution G A missense_variant S1100L 3299C>T COCA-CN 11 116728738 116728738 single base substitution G A missense_variant S1141L 3422C>T COCA-CN 11 116728738 116728738 single base substitution G A missense_variant S377L 1130C>T COCA-CN 11 116728738 116728738 single base substitution G A missense_variant S881L 2642C>T COCA-CN 11 116728738 116728738 single base substitution G A missense_variant S982L 2945C>T COCA-CN 11 116728957 116728957 single base substitution G A 3_prime_UTR_variant COCA-CN 11 116728957 116728957 single base substitution G A exon_variant COCA-CN 11 116728957 116728957 single base substitution G A missense_variant A1027V 3080C>T COCA-CN 11 116728957 116728957 single base substitution G A missense_variant A1068V 3203C>T COCA-CN 11 116728957 116728957 single base substitution G A missense_variant A304V 911C>T COCA-CN 11 116728957 116728957 single base substitution G A missense_variant A808V 2423C>T COCA-CN 11 116728957 116728957 single base substitution G A missense_variant A909V 2726C>T COCA-CN 11 116728957 116728957 single base substitution G A missense_variant A967V 2900C>T COCA-CN 11 116728957 116728957 single base substitution G A missense_variant A969V 2906C>T COCA-CN 11 116730026 116730026 single base substitution C T 3_prime_UTR_variant COCA-CN 11 116730026 116730026 single base substitution C T exon_variant COCA-CN 11 116730026 116730026 single base substitution C T missense_variant R196H 587G>A COCA-CN 11 116730026 116730026 single base substitution C T missense_variant R700H 2099G>A COCA-CN 11 116730026 116730026 single base substitution C T missense_variant R801H 2402G>A COCA-CN 11 116730026 116730026 single base substitution C T missense_variant R859H 2576G>A COCA-CN 11 116730026 116730026 single base substitution C T missense_variant R900H 2699G>A COCA-CN 11 116744672 116744672 single base substitution G A 3_prime_UTR_variant COCA-CN 11 116744672 116744672 single base substitution G A 5_prime_UTR_variant COCA-CN 11 116744672 116744672 single base substitution G A downstream_gene_variant COCA-CN 11 116744672 116744672 single base substitution G A missense_variant H351Y 1051C>T COCA-CN 11 116744672 116744672 single base substitution G A missense_variant H404Y 1210C>T COCA-CN 11 116744672 116744672 single base substitution G A missense_variant H412Y 1234C>T COCA-CN 11 116744672 116744672 single base substitution G A missense_variant H452Y 1354C>T COCA-CN 11 116744672 116744672 single base substitution G A missense_variant H462Y 1384C>T COCA-CN 11 116744672 116744672 single base substitution G A missense_variant H503Y 1507C>T COCA-CN 11 116744672 116744672 single base substitution G A missense_variant H510Y 1528C>T COCA-CN 11 116744672 116744672 single base substitution G A upstream_gene_variant COCA-CN 11 116767851 116767851 single base substitution G A intron_variant COCA-CN 11 116767916 116767916 single base substitution T C 3_prime_UTR_variant COCA-CN 11 116767916 116767916 single base substitution T C 5_prime_UTR_variant COCA-CN 11 116767916 116767916 single base substitution T C exon_variant COCA-CN 11 116767916 116767916 single base substitution T C missense_variant D147G 440A>G COCA-CN 11 116767916 116767916 single base substitution T C missense_variant D187G 560A>G COCA-CN 11 116767916 116767916 single base substitution T C missense_variant D238G 713A>G COCA-CN 11 116767916 116767916 single base substitution T C missense_variant D245G 734A>G COCA-CN 11 116767916 116767916 single base substitution T C missense_variant D86G 257A>G COCA-CN 11 116767938 116767938 single base substitution C A 3_prime_UTR_variant COCA-CN 11 116767938 116767938 single base substitution C A 5_prime_UTR_variant COCA-CN 11 116767938 116767938 single base substitution C A exon_variant COCA-CN 11 116767938 116767938 single base substitution C A stop_gained E140* 418G>T COCA-CN 11 116767938 116767938 single base substitution C A stop_gained E180* 538G>T COCA-CN 11 116767938 116767938 single base substitution C A stop_gained E231* 691G>T COCA-CN 11 116767938 116767938 single base substitution C A stop_gained E238* 712G>T COCA-CN 11 116767938 116767938 single base substitution C A stop_gained E79* 235G>T COCA-CN 11 116785878 116785878 single base substitution A G intron_variant COCA-CN 11 116792961 116792961 single base substitution A G intron_variant COCA-CN 11 116798007 116798007 single base substitution G A 3_prime_UTR_variant COCA-CN 11 116798007 116798007 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 11 116798007 116798007 single base substitution G A exon_variant COCA-CN 11 116798007 116798007 single base substitution G A missense_variant R124W 370C>T COCA-CN 11 116798007 116798007 single base substitution G A missense_variant R175W 523C>T COCA-CN 11 116798007 116798007 single base substitution G A missense_variant R182W 544C>T COCA-CN 11 116798007 116798007 single base substitution G A missense_variant R23W 67C>T COCA-CN 11 116798007 116798007 single base substitution G A missense_variant R84W 250C>T COCA-CN 11 116809338 116809338 single base substitution G A intron_variant COCA-CN 11 116815599 116815599 single base substitution C T intron_variant COCA-CN 11 116821053 116821053 single base substitution C T intron_variant COCA-CN 11 116823521 116823521 single base substitution G A intron_variant COCA-CN 11 116824739 116824739 single base substitution G T intron_variant COCA-CN 11 116827601 116827601 single base substitution G T intron_variant COCA-CN 11 116837743 116837743 single base substitution G A intron_variant COCA-CN 11 116885024 116885024 single base substitution C T intron_variant COCA-CN 11 116887102 116887102 single base substitution G A intron_variant COCA-CN 11 116894413 116894413 single base substitution C G intron_variant COCA-CN 11 116896957 116896957 single base substitution T C intron_variant COCA-CN 11 116909091 116909091 single base substitution G T intron_variant COCA-CN 11 116939900 116939900 single base substitution T G intron_variant COCA-CN 11 116951046 116951046 single base substitution T C intron_variant COCA-CN 11 116968917 116968917 single base substitution A G 5_prime_UTR_variant COCA-CN 11 116968917 116968917 single base substitution A G exon_variant COCA-CN 11 116968917 116968917 single base substitution A G missense_variant I14T 41T>C COCA-CN 11 116968917 116968917 single base substitution A G missense_variant I65T 194T>C COCA-CN 11 116968917 116968917 single base substitution A G missense_variant I72T 215T>C EOPC-DE 11 116737957 116737957 single base substitution T G downstream_gene_variant EOPC-DE 11 116737957 116737957 single base substitution T G intron_variant EOPC-DE 11 116737957 116737957 single base substitution T G upstream_gene_variant EOPC-DE 11 116759527 116759527 single base substitution A C intron_variant EOPC-DE 11 116837717 116837717 single base substitution T C intron_variant ESAD-UK 11 116712865 116712865 single base substitution C G downstream_gene_variant ESAD-UK 11 116713918 116713918 single base substitution A C downstream_gene_variant ESAD-UK 11 116714412 116714412 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 116714412 116714412 single base substitution C T downstream_gene_variant ESAD-UK 11 116714412 116714412 single base substitution C T exon_variant ESAD-UK 11 116714638 116714638 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 116714638 116714638 single base substitution G A downstream_gene_variant ESAD-UK 11 116714638 116714638 single base substitution G A exon_variant ESAD-UK 11 116715057 116715057 single base substitution C G 3_prime_UTR_variant ESAD-UK 11 116715057 116715057 single base substitution C G downstream_gene_variant ESAD-UK 11 116715057 116715057 single base substitution C G exon_variant ESAD-UK 11 116715072 116715072 single base substitution C G 3_prime_UTR_variant ESAD-UK 11 116715072 116715072 single base substitution C G downstream_gene_variant ESAD-UK 11 116715072 116715072 single base substitution C G exon_variant ESAD-UK 11 116720780 116720780 single base substitution A G intron_variant ESAD-UK 11 116720780 116720780 single base substitution A G upstream_gene_variant ESAD-UK 11 116721554 116721554 single base substitution A C intron_variant ESAD-UK 11 116721554 116721554 single base substitution A C upstream_gene_variant ESAD-UK 11 116723994 116723994 deletion of <=200bp G - downstream_gene_variant ESAD-UK 11 116723994 116723994 deletion of <=200bp G - intron_variant ESAD-UK 11 116723994 116723994 deletion of <=200bp G - upstream_gene_variant ESAD-UK 11 116727433 116727433 single base substitution C T downstream_gene_variant ESAD-UK 11 116727433 116727433 single base substitution C T intron_variant ESAD-UK 11 116728186 116728186 single base substitution T A exon_variant ESAD-UK 11 116728186 116728186 single base substitution T A intron_variant ESAD-UK 11 116729173 116729173 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 116729173 116729173 single base substitution G A exon_variant ESAD-UK 11 116729173 116729173 single base substitution G A missense_variant T232M 695C>T ESAD-UK 11 116729173 116729173 single base substitution G A missense_variant T736M 2207C>T ESAD-UK 11 116729173 116729173 single base substitution G A missense_variant T837M 2510C>T ESAD-UK 11 116729173 116729173 single base substitution G A missense_variant T895M 2684C>T ESAD-UK 11 116729173 116729173 single base substitution G A missense_variant T897M 2690C>T ESAD-UK 11 116729173 116729173 single base substitution G A missense_variant T955M 2864C>T ESAD-UK 11 116729173 116729173 single base substitution G A missense_variant T996M 2987C>T ESAD-UK 11 116730412 116730412 single base substitution C G intron_variant ESAD-UK 11 116731250 116731250 single base substitution C T intron_variant ESAD-UK 11 116733023 116733023 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 116733023 116733023 single base substitution C T exon_variant ESAD-UK 11 116733023 116733023 single base substitution C T missense_variant R34K 101G>A ESAD-UK 11 116733023 116733023 single base substitution C T synonymous_variant K501K 1503G>A ESAD-UK 11 116733023 116733023 single base substitution C T synonymous_variant K602K 1806G>A ESAD-UK 11 116733023 116733023 single base substitution C T synonymous_variant K660K 1980G>A ESAD-UK 11 116733023 116733023 single base substitution C T synonymous_variant K701K 2103G>A ESAD-UK 11 116733023 116733023 single base substitution C T upstream_gene_variant ESAD-UK 11 116737728 116737728 deletion of <=200bp A - downstream_gene_variant ESAD-UK 11 116737728 116737728 deletion of <=200bp A - intron_variant ESAD-UK 11 116737728 116737728 deletion of <=200bp A - upstream_gene_variant ESAD-UK 11 116737736 116737736 insertion of <=200bp - G downstream_gene_variant ESAD-UK 11 116737736 116737736 insertion of <=200bp - G intron_variant ESAD-UK 11 116737736 116737736 insertion of <=200bp - G upstream_gene_variant ESAD-UK 11 116738354 116738354 single base substitution C T downstream_gene_variant ESAD-UK 11 116738354 116738354 single base substitution C T intron_variant ESAD-UK 11 116738354 116738354 single base substitution C T upstream_gene_variant ESAD-UK 11 116739087 116739087 single base substitution C A downstream_gene_variant ESAD-UK 11 116739087 116739087 single base substitution C A intron_variant ESAD-UK 11 116739087 116739087 single base substitution C A upstream_gene_variant ESAD-UK 11 116739526 116739526 single base substitution G A 3_prime_UTR_variant ESAD-UK 11 116739526 116739526 single base substitution G A intron_variant ESAD-UK 11 116739526 116739526 single base substitution G A upstream_gene_variant ESAD-UK 11 116744145 116744145 deletion of <=200bp T - downstream_gene_variant ESAD-UK 11 116744145 116744145 deletion of <=200bp T - intron_variant ESAD-UK 11 116744145 116744145 deletion of <=200bp T - upstream_gene_variant ESAD-UK 11 116744528 116744528 single base substitution C A downstream_gene_variant ESAD-UK 11 116744528 116744528 single base substitution C A intron_variant ESAD-UK 11 116744528 116744528 single base substitution C A upstream_gene_variant ESAD-UK 11 116745387 116745387 single base substitution G A intron_variant ESAD-UK 11 116745387 116745387 single base substitution G A upstream_gene_variant ESAD-UK 11 116746638 116746638 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 116746638 116746638 single base substitution C T 5_prime_UTR_variant ESAD-UK 11 116746638 116746638 single base substitution C T intron_variant ESAD-UK 11 116746638 116746638 single base substitution C T missense_variant G236R 706G>A ESAD-UK 11 116746638 116746638 single base substitution C T missense_variant G297R 889G>A ESAD-UK 11 116746638 116746638 single base substitution C T missense_variant G337R 1009G>A ESAD-UK 11 116746638 116746638 single base substitution C T missense_variant G388R 1162G>A ESAD-UK 11 116746638 116746638 single base substitution C T missense_variant G395R 1183G>A ESAD-UK 11 116746638 116746638 single base substitution C T upstream_gene_variant ESAD-UK 11 116746872 116746872 insertion of <=200bp - A intron_variant ESAD-UK 11 116746872 116746872 insertion of <=200bp - A upstream_gene_variant ESAD-UK 11 116747326 116747326 single base substitution G T intron_variant ESAD-UK 11 116747326 116747326 single base substitution G T upstream_gene_variant ESAD-UK 11 116748914 116748914 single base substitution G C intron_variant ESAD-UK 11 116748914 116748914 single base substitution G C upstream_gene_variant ESAD-UK 11 116749375 116749375 single base substitution C T intron_variant ESAD-UK 11 116749375 116749375 single base substitution C T upstream_gene_variant ESAD-UK 11 116754042 116754042 single base substitution T C intron_variant ESAD-UK 11 116757656 116757656 single base substitution T A intron_variant ESAD-UK 11 116761424 116761424 deletion of <=200bp T - downstream_gene_variant ESAD-UK 11 116761424 116761424 deletion of <=200bp T - intron_variant ESAD-UK 11 116762033 116762033 deletion of <=200bp A - downstream_gene_variant ESAD-UK 11 116762033 116762033 deletion of <=200bp A - intron_variant ESAD-UK 11 116765998 116765998 single base substitution T G intron_variant ESAD-UK 11 116770360 116770360 single base substitution C T intron_variant ESAD-UK 11 116772533 116772533 single base substitution C G downstream_gene_variant ESAD-UK 11 116772533 116772533 single base substitution C G intron_variant ESAD-UK 11 116774474 116774474 single base substitution A T downstream_gene_variant ESAD-UK 11 116774474 116774474 single base substitution A T intron_variant ESAD-UK 11 116775484 116775484 single base substitution G A exon_variant ESAD-UK 11 116775484 116775484 single base substitution G A intron_variant ESAD-UK 11 116775655 116775655 single base substitution C T exon_variant ESAD-UK 11 116775655 116775655 single base substitution C T intron_variant ESAD-UK 11 116776633 116776633 single base substitution A G intron_variant ESAD-UK 11 116777038 116777038 single base substitution G T intron_variant ESAD-UK 11 116777458 116777458 single base substitution C T intron_variant ESAD-UK 11 116777705 116777705 single base substitution C A intron_variant ESAD-UK 11 116778255 116778255 single base substitution G A intron_variant ESAD-UK 11 116781146 116781146 deletion of <=200bp T - intron_variant ESAD-UK 11 116781296 116781296 single base substitution G A intron_variant ESAD-UK 11 116783955 116783955 insertion of <=200bp - A intron_variant ESAD-UK 11 116784301 116784301 single base substitution C A intron_variant ESAD-UK 11 116784569 116784569 single base substitution G A intron_variant ESAD-UK 11 116784834 116784834 deletion of <=200bp C - intron_variant ESAD-UK 11 116787594 116787594 single base substitution G A intron_variant ESAD-UK 11 116787679 116787679 deletion of <=200bp T - intron_variant ESAD-UK 11 116787758 116787758 deletion of <=200bp C - intron_variant ESAD-UK 11 116789032 116789032 single base substitution C T intron_variant ESAD-UK 11 116792239 116792239 single base substitution T G intron_variant ESAD-UK 11 116792396 116792396 single base substitution T C intron_variant ESAD-UK 11 116792608 116792608 insertion of <=200bp - A intron_variant ESAD-UK 11 116793572 116793572 single base substitution C A intron_variant ESAD-UK 11 116795309 116795309 single base substitution C T intron_variant ESAD-UK 11 116799869 116799869 single base substitution T G intron_variant ESAD-UK 11 116801751 116801751 deletion of <=200bp A - intron_variant ESAD-UK 11 116801994 116801994 single base substitution A G intron_variant ESAD-UK 11 116804156 116804156 single base substitution C T intron_variant ESAD-UK 11 116804162 116804162 insertion of <=200bp - CTCC intron_variant ESAD-UK 11 116806104 116806104 single base substitution C T intron_variant ESAD-UK 11 116806477 116806477 single base substitution G A intron_variant ESAD-UK 11 116810232 116810232 single base substitution T A intron_variant ESAD-UK 11 116810954 116810954 single base substitution T G intron_variant ESAD-UK 11 116816924 116816924 single base substitution C T intron_variant ESAD-UK 11 116817326 116817326 single base substitution G C intron_variant ESAD-UK 11 116817368 116817368 single base substitution G C intron_variant ESAD-UK 11 116820203 116820203 single base substitution A G intron_variant ESAD-UK 11 116823988 116823988 insertion of <=200bp - T intron_variant ESAD-UK 11 116826640 116826640 single base substitution A G intron_variant ESAD-UK 11 116828446 116828446 single base substitution G C intron_variant ESAD-UK 11 116828446 116828446 single base substitution G C upstream_gene_variant ESAD-UK 11 116829953 116829953 single base substitution G A intron_variant ESAD-UK 11 116829953 116829953 single base substitution G A upstream_gene_variant ESAD-UK 11 116830127 116830127 single base substitution G A intron_variant ESAD-UK 11 116830127 116830127 single base substitution G A upstream_gene_variant ESAD-UK 11 116835339 116835339 single base substitution C G intron_variant ESAD-UK 11 116835602 116835602 insertion of <=200bp - AATAAT intron_variant ESAD-UK 11 116837773 116837773 single base substitution C T intron_variant ESAD-UK 11 116840479 116840479 single base substitution G A intron_variant ESAD-UK 11 116842658 116842658 single base substitution C T intron_variant ESAD-UK 11 116846708 116846708 single base substitution G A intron_variant ESAD-UK 11 116850651 116850652 deletion of <=200bp AG - intron_variant ESAD-UK 11 116851199 116851199 single base substitution G C intron_variant ESAD-UK 11 116854683 116854694 deletion of <=200bp CTTGAGTCCAGG - intron_variant ESAD-UK 11 116857513 116857513 single base substitution G A intron_variant ESAD-UK 11 116858247 116858247 single base substitution G T intron_variant ESAD-UK 11 116861297 116861297 single base substitution T G intron_variant ESAD-UK 11 116862208 116862208 single base substitution A G intron_variant ESAD-UK 11 116862799 116862799 single base substitution G A intron_variant ESAD-UK 11 116866492 116866492 single base substitution A C intron_variant ESAD-UK 11 116867468 116867468 single base substitution G A intron_variant ESAD-UK 11 116869080 116869080 single base substitution A G intron_variant ESAD-UK 11 116870801 116870801 single base substitution G A intron_variant ESAD-UK 11 116873289 116873289 single base substitution C A intron_variant ESAD-UK 11 116873332 116873332 single base substitution G T intron_variant ESAD-UK 11 116874663 116874663 single base substitution A G intron_variant ESAD-UK 11 116876238 116876238 single base substitution C T intron_variant ESAD-UK 11 116879400 116879400 single base substitution G A intron_variant ESAD-UK 11 116879761 116879761 single base substitution A G intron_variant ESAD-UK 11 116881446 116881446 single base substitution A T intron_variant ESAD-UK 11 116881821 116881821 single base substitution G C intron_variant ESAD-UK 11 116882684 116882684 single base substitution C T intron_variant ESAD-UK 11 116882735 116882735 single base substitution C A intron_variant ESAD-UK 11 116882793 116882793 single base substitution C G intron_variant ESAD-UK 11 116883219 116883219 single base substitution C T intron_variant ESAD-UK 11 116884413 116884413 single base substitution T A intron_variant ESAD-UK 11 116884425 116884425 single base substitution G T intron_variant ESAD-UK 11 116885335 116885335 single base substitution C T intron_variant ESAD-UK 11 116885496 116885496 single base substitution C T intron_variant ESAD-UK 11 116886392 116886392 single base substitution G T intron_variant ESAD-UK 11 116887896 116887896 single base substitution C T intron_variant ESAD-UK 11 116887970 116887970 insertion of <=200bp - A intron_variant ESAD-UK 11 116889437 116889437 single base substitution T A intron_variant ESAD-UK 11 116890346 116890346 single base substitution T G intron_variant ESAD-UK 11 116891088 116891088 single base substitution T C intron_variant ESAD-UK 11 116891322 116891322 single base substitution A C intron_variant ESAD-UK 11 116895662 116895662 single base substitution T A intron_variant ESAD-UK 11 116898167 116898167 insertion of <=200bp - TGTT intron_variant ESAD-UK 11 116900886 116900886 single base substitution C G intron_variant ESAD-UK 11 116903595 116903595 single base substitution C T intron_variant ESAD-UK 11 116903612 116903612 single base substitution T C intron_variant ESAD-UK 11 116903778 116903778 single base substitution C T intron_variant ESAD-UK 11 116905527 116905527 single base substitution A T intron_variant ESAD-UK 11 116906976 116906976 single base substitution C G intron_variant ESAD-UK 11 116907560 116907560 single base substitution C T intron_variant ESAD-UK 11 116909790 116909790 single base substitution G A intron_variant ESAD-UK 11 116911490 116911490 single base substitution A G intron_variant ESAD-UK 11 116915245 116915245 single base substitution G A intron_variant ESAD-UK 11 116917078 116917078 single base substitution T C intron_variant ESAD-UK 11 116919827 116919827 single base substitution T A intron_variant ESAD-UK 11 116919966 116919966 single base substitution G A intron_variant ESAD-UK 11 116921447 116921447 single base substitution A T intron_variant ESAD-UK 11 116923753 116923753 single base substitution T C intron_variant ESAD-UK 11 116925192 116925192 single base substitution C A intron_variant ESAD-UK 11 116926432 116926432 single base substitution T C intron_variant ESAD-UK 11 116929012 116929012 single base substitution C T intron_variant ESAD-UK 11 116929931 116929931 single base substitution A C intron_variant ESAD-UK 11 116931913 116931913 single base substitution C T intron_variant ESAD-UK 11 116932046 116932046 insertion of <=200bp - TG intron_variant ESAD-UK 11 116933859 116933859 single base substitution T G intron_variant ESAD-UK 11 116937153 116937153 single base substitution A T intron_variant ESAD-UK 11 116939186 116939186 single base substitution C T intron_variant ESAD-UK 11 116940227 116940227 single base substitution T A intron_variant ESAD-UK 11 116941387 116941387 single base substitution C T intron_variant ESAD-UK 11 116943114 116943114 single base substitution A C intron_variant ESAD-UK 11 116946370 116946370 single base substitution G C intron_variant ESAD-UK 11 116949099 116949099 single base substitution C T intron_variant ESAD-UK 11 116952981 116952981 single base substitution G A intron_variant ESAD-UK 11 116955495 116955495 single base substitution G A intron_variant ESAD-UK 11 116958363 116958363 single base substitution C T intron_variant ESAD-UK 11 116959452 116959452 single base substitution G T intron_variant ESAD-UK 11 116963205 116963205 single base substitution A G intron_variant ESAD-UK 11 116964348 116964348 single base substitution G A intron_variant ESAD-UK 11 116966875 116966876 deletion of <=200bp TT - intron_variant ESAD-UK 11 116967979 116967979 single base substitution G A intron_variant ESAD-UK 11 116970828 116970828 single base substitution T G upstream_gene_variant ESAD-UK 11 116971331 116971331 insertion of <=200bp - A upstream_gene_variant ESAD-UK 11 116973507 116973507 single base substitution C T upstream_gene_variant ESAD-UK 11 116973858 116973858 insertion of <=200bp - AAC upstream_gene_variant ESCA-CN 11 116744216 116744216 single base substitution G A 3_prime_UTR_variant ESCA-CN 11 116744216 116744216 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 11 116744216 116744216 single base substitution G A downstream_gene_variant ESCA-CN 11 116744216 116744216 single base substitution G A exon_variant ESCA-CN 11 116744216 116744216 single base substitution G A missense_variant P414L 1241C>T ESCA-CN 11 116744216 116744216 single base substitution G A missense_variant P467L 1400C>T ESCA-CN 11 116744216 116744216 single base substitution G A missense_variant P475L 1424C>T ESCA-CN 11 116744216 116744216 single base substitution G A missense_variant P515L 1544C>T ESCA-CN 11 116744216 116744216 single base substitution G A missense_variant P525L 1574C>T ESCA-CN 11 116744216 116744216 single base substitution G A missense_variant P566L 1697C>T ESCA-CN 11 116744216 116744216 single base substitution G A missense_variant P573L 1718C>T ESCA-CN 11 116744216 116744216 single base substitution G A upstream_gene_variant GBM-US 11 116732043 116732043 single base substitution C T 3_prime_UTR_variant GBM-US 11 116732043 116732043 single base substitution C T exon_variant GBM-US 11 116732043 116732043 single base substitution C T intron_variant GBM-US 11 116732043 116732043 single base substitution C T missense_variant R584K 1751G>A GBM-US 11 116732043 116732043 single base substitution C T missense_variant R685K 2054G>A GBM-US 11 116732043 116732043 single base substitution C T missense_variant R743K 2228G>A GBM-US 11 116732043 116732043 single base substitution C T missense_variant R784K 2351G>A KIRC-US 11 116746997 116746997 single base substitution A G 3_prime_UTR_variant KIRC-US 11 116746997 116746997 single base substitution A G 5_prime_UTR_variant KIRC-US 11 116746997 116746997 single base substitution A G missense_variant M197T 590T>C KIRC-US 11 116746997 116746997 single base substitution A G missense_variant M258T 773T>C KIRC-US 11 116746997 116746997 single base substitution A G missense_variant M298T 893T>C KIRC-US 11 116746997 116746997 single base substitution A G missense_variant M349T 1046T>C KIRC-US 11 116746997 116746997 single base substitution A G missense_variant M356T 1067T>C KIRC-US 11 116746997 116746997 single base substitution A G upstream_gene_variant KIRP-US 11 116729111 116729111 single base substitution G A 3_prime_UTR_variant KIRP-US 11 116729111 116729111 single base substitution G A exon_variant KIRP-US 11 116729111 116729111 single base substitution G A missense_variant R1017W 3049C>T KIRP-US 11 116729111 116729111 single base substitution G A missense_variant R253W 757C>T KIRP-US 11 116729111 116729111 single base substitution G A missense_variant R757W 2269C>T KIRP-US 11 116729111 116729111 single base substitution G A missense_variant R858W 2572C>T KIRP-US 11 116729111 116729111 single base substitution G A missense_variant R916W 2746C>T KIRP-US 11 116729111 116729111 single base substitution G A missense_variant R918W 2752C>T KIRP-US 11 116729111 116729111 single base substitution G A missense_variant R976W 2926C>T KIRP-US 11 116741113 116741113 single base substitution A G 3_prime_UTR_variant KIRP-US 11 116741113 116741113 single base substitution A G 5_prime_UTR_variant KIRP-US 11 116741113 116741113 single base substitution A G downstream_gene_variant KIRP-US 11 116741113 116741113 single base substitution A G exon_variant KIRP-US 11 116741113 116741113 single base substitution A G missense_variant V422A 1265T>C KIRP-US 11 116741113 116741113 single base substitution A G missense_variant V475A 1424T>C KIRP-US 11 116741113 116741113 single base substitution A G missense_variant V483A 1448T>C KIRP-US 11 116741113 116741113 single base substitution A G missense_variant V523A 1568T>C KIRP-US 11 116741113 116741113 single base substitution A G missense_variant V533A 1598T>C KIRP-US 11 116741113 116741113 single base substitution A G missense_variant V574A 1721T>C KIRP-US 11 116741113 116741113 single base substitution A G missense_variant V581A 1742T>C KIRP-US 11 116741113 116741113 single base substitution A G upstream_gene_variant LAML-KR 11 116747829 116747829 single base substitution G A intron_variant LAML-KR 11 116747829 116747829 single base substitution G A upstream_gene_variant LAML-KR 11 116972414 116972414 single base substitution C T upstream_gene_variant LGG-US 11 116719848 116719848 single base substitution G A 3_prime_UTR_variant LGG-US 11 116719848 116719848 single base substitution G A exon_variant LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S1002S 3006C>T LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S1103S 3309C>T LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S1161S 3483C>T LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S1163S 3489C>T LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S1221S 3663C>T LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S1262S 3786C>T LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S2S 6C>T LGG-US 11 116719848 116719848 single base substitution G A synonymous_variant S498S 1494C>T LICA-FR 11 116728933 116728933 single base substitution C G 3_prime_UTR_variant LICA-FR 11 116728933 116728933 single base substitution C G exon_variant LICA-FR 11 116728933 116728933 single base substitution C G missense_variant G1035A 3104G>C LICA-FR 11 116728933 116728933 single base substitution C G missense_variant G1076A 3227G>C LICA-FR 11 116728933 116728933 single base substitution C G missense_variant G312A 935G>C LICA-FR 11 116728933 116728933 single base substitution C G missense_variant G816A 2447G>C LICA-FR 11 116728933 116728933 single base substitution C G missense_variant G917A 2750G>C LICA-FR 11 116728933 116728933 single base substitution C G missense_variant G975A 2924G>C LICA-FR 11 116728933 116728933 single base substitution C G missense_variant G977A 2930G>C LICA-FR 11 116728955 116728955 single base substitution C T 3_prime_UTR_variant LICA-FR 11 116728955 116728955 single base substitution C T exon_variant LICA-FR 11 116728955 116728955 single base substitution C T missense_variant G1028R 3082G>A LICA-FR 11 116728955 116728955 single base substitution C T missense_variant G1069R 3205G>A LICA-FR 11 116728955 116728955 single base substitution C T missense_variant G305R 913G>A LICA-FR 11 116728955 116728955 single base substitution C T missense_variant G809R 2425G>A LICA-FR 11 116728955 116728955 single base substitution C T missense_variant G910R 2728G>A LICA-FR 11 116728955 116728955 single base substitution C T missense_variant G968R 2902G>A LICA-FR 11 116728955 116728955 single base substitution C T missense_variant G970R 2908G>A LICA-FR 11 116744237 116744237 single base substitution T C 3_prime_UTR_variant LICA-FR 11 116744237 116744237 single base substitution T C 5_prime_UTR_variant LICA-FR 11 116744237 116744237 single base substitution T C downstream_gene_variant LICA-FR 11 116744237 116744237 single base substitution T C exon_variant LICA-FR 11 116744237 116744237 single base substitution T C missense_variant K407R 1220A>G LICA-FR 11 116744237 116744237 single base substitution T C missense_variant K460R 1379A>G LICA-FR 11 116744237 116744237 single base substitution T C missense_variant K468R 1403A>G LICA-FR 11 116744237 116744237 single base substitution T C missense_variant K508R 1523A>G LICA-FR 11 116744237 116744237 single base substitution T C missense_variant K518R 1553A>G LICA-FR 11 116744237 116744237 single base substitution T C missense_variant K559R 1676A>G LICA-FR 11 116744237 116744237 single base substitution T C missense_variant K566R 1697A>G LICA-FR 11 116744237 116744237 single base substitution T C upstream_gene_variant LICA-FR 11 116767060 116767060 single base substitution G A 3_prime_UTR_variant LICA-FR 11 116767060 116767060 single base substitution G A 5_prime_UTR_variant LICA-FR 11 116767060 116767060 single base substitution G A exon_variant LICA-FR 11 116767060 116767060 single base substitution G A synonymous_variant C160C 480C>T LICA-FR 11 116767060 116767060 single base substitution G A synonymous_variant C200C 600C>T LICA-FR 11 116767060 116767060 single base substitution G A synonymous_variant C251C 753C>T LICA-FR 11 116767060 116767060 single base substitution G A synonymous_variant C258C 774C>T LICA-FR 11 116767060 116767060 single base substitution G A synonymous_variant C99C 297C>T LICA-FR 11 116818248 116818248 insertion of <=200bp - TATGTATG intron_variant LICA-FR 11 116821996 116821996 single base substitution T C intron_variant LICA-FR 11 116832650 116832650 single base substitution T C intron_variant LICA-FR 11 116832650 116832650 single base substitution T C upstream_gene_variant LICA-FR 11 116896349 116896349 single base substitution T A intron_variant LICA-FR 11 116902880 116902880 single base substitution T C intron_variant LICA-FR 11 116905540 116905540 single base substitution A C intron_variant LICA-FR 11 116922988 116922988 single base substitution A G intron_variant LICA-FR 11 116925291 116925291 single base substitution T C intron_variant LICA-FR 11 116948377 116948377 single base substitution G C intron_variant LICA-FR 11 116948378 116948378 single base substitution C T intron_variant LICA-FR 11 116950603 116950603 single base substitution G A intron_variant LIHC-US 11 116728796 116728796 single base substitution G A 3_prime_UTR_variant LIHC-US 11 116728796 116728796 single base substitution G A exon_variant LIHC-US 11 116728796 116728796 single base substitution G A missense_variant H1021Y 3061C>T LIHC-US 11 116728796 116728796 single base substitution G A missense_variant H1023Y 3067C>T LIHC-US 11 116728796 116728796 single base substitution G A missense_variant H1081Y 3241C>T LIHC-US 11 116728796 116728796 single base substitution G A missense_variant H1122Y 3364C>T LIHC-US 11 116728796 116728796 single base substitution G A missense_variant H358Y 1072C>T LIHC-US 11 116728796 116728796 single base substitution G A missense_variant H862Y 2584C>T LIHC-US 11 116728796 116728796 single base substitution G A missense_variant H963Y 2887C>T LIHC-US 11 116744713 116744713 single base substitution T C 3_prime_UTR_variant LIHC-US 11 116744713 116744713 single base substitution T C 5_prime_UTR_variant LIHC-US 11 116744713 116744713 single base substitution T C downstream_gene_variant LIHC-US 11 116744713 116744713 single base substitution T C missense_variant Q337R 1010A>G LIHC-US 11 116744713 116744713 single base substitution T C missense_variant Q390R 1169A>G LIHC-US 11 116744713 116744713 single base substitution T C missense_variant Q398R 1193A>G LIHC-US 11 116744713 116744713 single base substitution T C missense_variant Q438R 1313A>G LIHC-US 11 116744713 116744713 single base substitution T C missense_variant Q448R 1343A>G LIHC-US 11 116744713 116744713 single base substitution T C missense_variant Q489R 1466A>G LIHC-US 11 116744713 116744713 single base substitution T C missense_variant Q496R 1487A>G LIHC-US 11 116744713 116744713 single base substitution T C upstream_gene_variant LIHC-US 11 116746722 116746722 single base substitution A G 3_prime_UTR_variant LIHC-US 11 116746722 116746722 single base substitution A G 5_prime_UTR_variant LIHC-US 11 116746722 116746722 single base substitution A G intron_variant LIHC-US 11 116746722 116746722 single base substitution A G synonymous_variant L208L 622T>C LIHC-US 11 116746722 116746722 single base substitution A G synonymous_variant L269L 805T>C LIHC-US 11 116746722 116746722 single base substitution A G synonymous_variant L309L 925T>C LIHC-US 11 116746722 116746722 single base substitution A G synonymous_variant L360L 1078T>C LIHC-US 11 116746722 116746722 single base substitution A G synonymous_variant L367L 1099T>C LIHC-US 11 116746722 116746722 single base substitution A G upstream_gene_variant LINC-JP 11 116718303 116718303 single base substitution C T 3_prime_UTR_variant LINC-JP 11 116718303 116718303 single base substitution C T exon_variant LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G1014R 3040G>A LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G1115R 3343G>A LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G1173R 3517G>A LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G1175R 3523G>A LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G1233R 3697G>A LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G1274R 3820G>A LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G14R 40G>A LINC-JP 11 116718303 116718303 single base substitution C T missense_variant G510R 1528G>A LINC-JP 11 116720586 116720586 single base substitution A G intron_variant LINC-JP 11 116720586 116720586 single base substitution A G upstream_gene_variant LINC-JP 11 116729580 116729580 single base substitution G T intron_variant LINC-JP 11 116732738 116732738 single base substitution T C intron_variant LINC-JP 11 116732738 116732738 single base substitution T C upstream_gene_variant LINC-JP 11 116735920 116735920 single base substitution T A downstream_gene_variant LINC-JP 11 116735920 116735920 single base substitution T A intron_variant LINC-JP 11 116735920 116735920 single base substitution T A upstream_gene_variant LINC-JP 11 116741078 116741078 single base substitution C T 3_prime_UTR_variant LINC-JP 11 116741078 116741078 single base substitution C T 5_prime_UTR_variant LINC-JP 11 116741078 116741078 single base substitution C T downstream_gene_variant LINC-JP 11 116741078 116741078 single base substitution C T exon_variant LINC-JP 11 116741078 116741078 single base substitution C T missense_variant D434N 1300G>A LINC-JP 11 116741078 116741078 single base substitution C T missense_variant D487N 1459G>A LINC-JP 11 116741078 116741078 single base substitution C T missense_variant D495N 1483G>A LINC-JP 11 116741078 116741078 single base substitution C T missense_variant D535N 1603G>A LINC-JP 11 116741078 116741078 single base substitution C T missense_variant D545N 1633G>A LINC-JP 11 116741078 116741078 single base substitution C T missense_variant D586N 1756G>A LINC-JP 11 116741078 116741078 single base substitution C T missense_variant D593N 1777G>A LINC-JP 11 116741078 116741078 single base substitution C T upstream_gene_variant LINC-JP 11 116744231 116744231 deletion of <=200bp G - 3_prime_UTR_variant LINC-JP 11 116744231 116744231 deletion of <=200bp G - 5_prime_UTR_variant LINC-JP 11 116744231 116744231 deletion of <=200bp G - downstream_gene_variant LINC-JP 11 116744231 116744231 deletion of <=200bp G - exon_variant LINC-JP 11 116744231 116744231 deletion of <=200bp G - frameshift_variant P409 LINC-JP 11 116744231 116744231 deletion of <=200bp G - frameshift_variant P462 LINC-JP 11 116744231 116744231 deletion of <=200bp G - frameshift_variant P470 LINC-JP 11 116744231 116744231 deletion of <=200bp G - frameshift_variant P510 LINC-JP 11 116744231 116744231 deletion of <=200bp G - frameshift_variant P520 LINC-JP 11 116744231 116744231 deletion of <=200bp G - frameshift_variant P561 LINC-JP 11 116744231 116744231 deletion of <=200bp G - frameshift_variant P568 LINC-JP 11 116744231 116744231 deletion of <=200bp G - upstream_gene_variant LINC-JP 11 116744486 116744486 single base substitution C T downstream_gene_variant LINC-JP 11 116744486 116744486 single base substitution C T intron_variant LINC-JP 11 116744486 116744486 single base substitution C T upstream_gene_variant LINC-JP 11 116757745 116757745 single base substitution C A intron_variant LINC-JP 11 116762388 116762388 single base substitution G A downstream_gene_variant LINC-JP 11 116762388 116762388 single base substitution G A intron_variant LINC-JP 11 116762390 116762390 single base substitution A G downstream_gene_variant LINC-JP 11 116762390 116762390 single base substitution A G intron_variant LINC-JP 11 116772111 116772111 single base substitution C T downstream_gene_variant LINC-JP 11 116772111 116772111 single base substitution C T intron_variant LINC-JP 11 116780538 116780538 single base substitution T C intron_variant LINC-JP 11 116795325 116795325 single base substitution C A intron_variant LINC-JP 11 116800323 116800323 single base substitution C G intron_variant LINC-JP 11 116800756 116800756 deletion of <=200bp T - intron_variant LINC-JP 11 116808521 116808521 single base substitution A G intron_variant LINC-JP 11 116810569 116810569 single base substitution T A intron_variant LINC-JP 11 116847888 116847888 single base substitution T G intron_variant LINC-JP 11 116860070 116860070 single base substitution T C intron_variant LINC-JP 11 116863832 116863832 single base substitution G A intron_variant LINC-JP 11 116863836 116863836 single base substitution G C intron_variant LINC-JP 11 116873864 116873864 insertion of <=200bp - T intron_variant LINC-JP 11 116889431 116889431 single base substitution T A intron_variant LINC-JP 11 116889432 116889432 single base substitution A T intron_variant LINC-JP 11 116894339 116894339 single base substitution T A intron_variant LINC-JP 11 116895034 116895034 deletion of <=200bp A - intron_variant LINC-JP 11 116903894 116903894 single base substitution C A intron_variant LINC-JP 11 116906793 116906793 single base substitution G A intron_variant LINC-JP 11 116928616 116928616 single base substitution C A intron_variant LINC-JP 11 116929280 116929280 single base substitution T C intron_variant LINC-JP 11 116935022 116935022 single base substitution T C intron_variant LINC-JP 11 116936396 116936396 single base substitution A G intron_variant LINC-JP 11 116953707 116953707 single base substitution T G intron_variant LINC-JP 11 116964721 116964721 single base substitution T C intron_variant LINC-JP 11 116972587 116972587 single base substitution G A upstream_gene_variant LIRI-JP 11 116711861 116711861 single base substitution C A downstream_gene_variant LIRI-JP 11 116716461 116716461 single base substitution C T intron_variant LIRI-JP 11 116721304 116721304 single base substitution C T intron_variant LIRI-JP 11 116721304 116721304 single base substitution C T upstream_gene_variant LIRI-JP 11 116723265 116723265 single base substitution G A downstream_gene_variant LIRI-JP 11 116723265 116723265 single base substitution G A intron_variant LIRI-JP 11 116723265 116723265 single base substitution G A upstream_gene_variant LIRI-JP 11 116728653 116728653 single base substitution C A 3_prime_UTR_variant LIRI-JP 11 116728653 116728653 single base substitution C A exon_variant LIRI-JP 11 116728653 116728653 single base substitution C A missense_variant L1010F 3030G>T LIRI-JP 11 116728653 116728653 single base substitution C A missense_variant L1068F 3204G>T LIRI-JP 11 116728653 116728653 single base substitution C A missense_variant L1070F 3210G>T LIRI-JP 11 116728653 116728653 single base substitution C A missense_variant L1128F 3384G>T LIRI-JP 11 116728653 116728653 single base substitution C A missense_variant L1169F 3507G>T LIRI-JP 11 116728653 116728653 single base substitution C A missense_variant L405F 1215G>T LIRI-JP 11 116728653 116728653 single base substitution C A missense_variant L909F 2727G>T LIRI-JP 11 116730592 116730592 single base substitution T C intron_variant LIRI-JP 11 116733372 116733372 single base substitution T C intron_variant LIRI-JP 11 116733372 116733372 single base substitution T C upstream_gene_variant LIRI-JP 11 116734277 116734277 single base substitution G T downstream_gene_variant LIRI-JP 11 116734277 116734277 single base substitution G T intron_variant LIRI-JP 11 116734277 116734277 single base substitution G T upstream_gene_variant LIRI-JP 11 116735184 116735184 single base substitution G A downstream_gene_variant LIRI-JP 11 116735184 116735184 single base substitution G A exon_variant LIRI-JP 11 116735184 116735184 single base substitution G A intron_variant LIRI-JP 11 116735184 116735184 single base substitution G A upstream_gene_variant LIRI-JP 11 116735881 116735881 single base substitution G C downstream_gene_variant LIRI-JP 11 116735881 116735881 single base substitution G C intron_variant LIRI-JP 11 116735881 116735881 single base substitution G C upstream_gene_variant LIRI-JP 11 116736066 116736066 single base substitution G C downstream_gene_variant LIRI-JP 11 116736066 116736066 single base substitution G C intron_variant LIRI-JP 11 116736066 116736066 single base substitution G C upstream_gene_variant LIRI-JP 11 116736940 116736962 deletion of <=200bp TTCAACAAGGATACCTAAAGGAC - downstream_gene_variant LIRI-JP 11 116736940 116736962 deletion of <=200bp TTCAACAAGGATACCTAAAGGAC - intron_variant LIRI-JP 11 116736940 116736962 deletion of <=200bp TTCAACAAGGATACCTAAAGGAC - upstream_gene_variant LIRI-JP 11 116738750 116738750 single base substitution C T downstream_gene_variant LIRI-JP 11 116738750 116738750 single base substitution C T exon_variant LIRI-JP 11 116738750 116738750 single base substitution C T intron_variant LIRI-JP 11 116738750 116738750 single base substitution C T missense_variant E516K 1546G>A LIRI-JP 11 116738750 116738750 single base substitution C T missense_variant E574K 1720G>A LIRI-JP 11 116738750 116738750 single base substitution C T missense_variant E615K 1843G>A LIRI-JP 11 116738750 116738750 single base substitution C T upstream_gene_variant LIRI-JP 11 116738829 116738829 single base substitution C T downstream_gene_variant LIRI-JP 11 116738829 116738829 single base substitution C T intron_variant LIRI-JP 11 116738829 116738829 single base substitution C T upstream_gene_variant LIRI-JP 11 116739534 116739534 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 116739534 116739534 single base substitution T C intron_variant LIRI-JP 11 116739534 116739534 single base substitution T C upstream_gene_variant LIRI-JP 11 116739841 116739841 single base substitution C T 3_prime_UTR_variant LIRI-JP 11 116739841 116739841 single base substitution C T downstream_gene_variant LIRI-JP 11 116739841 116739841 single base substitution C T intron_variant LIRI-JP 11 116739841 116739841 single base substitution C T upstream_gene_variant LIRI-JP 11 116739848 116739848 single base substitution G T 3_prime_UTR_variant LIRI-JP 11 116739848 116739848 single base substitution G T downstream_gene_variant LIRI-JP 11 116739848 116739848 single base substitution G T intron_variant LIRI-JP 11 116739848 116739848 single base substitution G T upstream_gene_variant LIRI-JP 11 116743973 116743973 single base substitution G T downstream_gene_variant LIRI-JP 11 116743973 116743973 single base substitution G T intron_variant LIRI-JP 11 116743973 116743973 single base substitution G T upstream_gene_variant LIRI-JP 11 116744534 116744534 single base substitution A G downstream_gene_variant LIRI-JP 11 116744534 116744534 single base substitution A G intron_variant LIRI-JP 11 116744534 116744534 single base substitution A G upstream_gene_variant LIRI-JP 11 116745315 116745315 single base substitution T C intron_variant LIRI-JP 11 116745315 116745315 single base substitution T C upstream_gene_variant LIRI-JP 11 116745916 116745916 single base substitution T C 3_prime_UTR_variant LIRI-JP 11 116745916 116745916 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 11 116745916 116745916 single base substitution T C exon_variant LIRI-JP 11 116745916 116745916 single base substitution T C missense_variant Y303C 908A>G LIRI-JP 11 116745916 116745916 single base substitution T C missense_variant Y356C 1067A>G LIRI-JP 11 116745916 116745916 single base substitution T C missense_variant Y364C 1091A>G LIRI-JP 11 116745916 116745916 single base substitution T C missense_variant Y404C 1211A>G LIRI-JP 11 116745916 116745916 single base substitution T C missense_variant Y414C 1241A>G LIRI-JP 11 116745916 116745916 single base substitution T C missense_variant Y455C 1364A>G LIRI-JP 11 116745916 116745916 single base substitution T C missense_variant Y462C 1385A>G LIRI-JP 11 116745916 116745916 single base substitution T C upstream_gene_variant LIRI-JP 11 116748055 116748058 deletion of <=200bp TATA - intron_variant LIRI-JP 11 116748055 116748058 deletion of <=200bp TATA - upstream_gene_variant LIRI-JP 11 116748570 116748570 single base substitution C T intron_variant LIRI-JP 11 116748570 116748570 single base substitution C T upstream_gene_variant LIRI-JP 11 116754198 116754198 single base substitution G A intron_variant LIRI-JP 11 116757351 116757351 single base substitution C T intron_variant LIRI-JP 11 116757426 116757426 single base substitution T C intron_variant LIRI-JP 11 116758275 116758275 single base substitution G A intron_variant LIRI-JP 11 116759285 116759285 single base substitution G A intron_variant LIRI-JP 11 116760526 116760526 single base substitution T C downstream_gene_variant LIRI-JP 11 116760526 116760526 single base substitution T C intron_variant LIRI-JP 11 116760847 116760847 single base substitution A C downstream_gene_variant LIRI-JP 11 116760847 116760847 single base substitution A C intron_variant LIRI-JP 11 116762537 116762537 single base substitution T C downstream_gene_variant LIRI-JP 11 116762537 116762537 single base substitution T C intron_variant LIRI-JP 11 116763859 116763859 single base substitution T C downstream_gene_variant LIRI-JP 11 116763859 116763859 single base substitution T C intron_variant LIRI-JP 11 116766483 116766483 single base substitution T C intron_variant LIRI-JP 11 116767207 116767207 single base substitution T C intron_variant LIRI-JP 11 116769770 116769770 single base substitution T C intron_variant LIRI-JP 11 116770993 116770993 single base substitution C A downstream_gene_variant LIRI-JP 11 116770993 116770993 single base substitution C A intron_variant LIRI-JP 11 116771573 116771573 single base substitution T A downstream_gene_variant LIRI-JP 11 116771573 116771573 single base substitution T A intron_variant LIRI-JP 11 116771952 116771952 single base substitution G A downstream_gene_variant LIRI-JP 11 116771952 116771952 single base substitution G A intron_variant LIRI-JP 11 116773508 116773508 single base substitution C G downstream_gene_variant LIRI-JP 11 116773508 116773508 single base substitution C G intron_variant LIRI-JP 11 116773532 116773532 single base substitution A T downstream_gene_variant LIRI-JP 11 116773532 116773532 single base substitution A T intron_variant LIRI-JP 11 116773563 116773563 single base substitution T A downstream_gene_variant LIRI-JP 11 116773563 116773563 single base substitution T A intron_variant LIRI-JP 11 116774937 116774937 single base substitution C A downstream_gene_variant LIRI-JP 11 116774937 116774937 single base substitution C A intron_variant LIRI-JP 11 116775278 116775278 single base substitution G A downstream_gene_variant LIRI-JP 11 116775278 116775278 single base substitution G A intron_variant LIRI-JP 11 116775358 116775358 single base substitution C T downstream_gene_variant LIRI-JP 11 116775358 116775358 single base substitution C T intron_variant LIRI-JP 11 116775651 116775651 single base substitution C T exon_variant LIRI-JP 11 116775651 116775651 single base substitution C T intron_variant LIRI-JP 11 116776602 116776602 single base substitution A C intron_variant LIRI-JP 11 116777333 116777333 single base substitution C T intron_variant LIRI-JP 11 116777811 116777811 single base substitution C A intron_variant LIRI-JP 11 116778384 116778384 single base substitution A C intron_variant LIRI-JP 11 116780562 116780562 insertion of <=200bp - A intron_variant LIRI-JP 11 116783821 116783821 single base substitution T A intron_variant LIRI-JP 11 116786264 116786264 single base substitution C A intron_variant LIRI-JP 11 116786542 116786542 single base substitution T C intron_variant LIRI-JP 11 116788026 116788026 single base substitution T C intron_variant LIRI-JP 11 116788206 116788206 single base substitution C T intron_variant LIRI-JP 11 116788669 116788669 single base substitution T G intron_variant LIRI-JP 11 116792781 116792781 single base substitution T C intron_variant LIRI-JP 11 116794184 116794184 single base substitution G A intron_variant LIRI-JP 11 116794925 116794925 single base substitution G A intron_variant LIRI-JP 11 116796451 116796451 single base substitution A C intron_variant LIRI-JP 11 116799457 116799457 single base substitution A T intron_variant LIRI-JP 11 116800729 116800729 single base substitution T C intron_variant LIRI-JP 11 116803516 116803516 single base substitution T C intron_variant LIRI-JP 11 116805275 116805275 single base substitution C T intron_variant LIRI-JP 11 116806857 116806857 single base substitution T C intron_variant LIRI-JP 11 116812416 116812416 single base substitution T C intron_variant LIRI-JP 11 116813703 116813703 single base substitution C T intron_variant LIRI-JP 11 116816903 116816903 single base substitution T C intron_variant LIRI-JP 11 116817830 116817830 single base substitution A T intron_variant LIRI-JP 11 116818061 116818061 single base substitution T A intron_variant LIRI-JP 11 116818063 116818063 single base substitution C A intron_variant LIRI-JP 11 116818421 116818421 single base substitution A G intron_variant LIRI-JP 11 116819607 116819607 single base substitution T C intron_variant LIRI-JP 11 116822203 116822203 single base substitution T G intron_variant LIRI-JP 11 116823154 116823154 single base substitution T C intron_variant LIRI-JP 11 116824368 116824368 single base substitution A T intron_variant LIRI-JP 11 116825502 116825502 single base substitution T C intron_variant LIRI-JP 11 116825922 116825922 single base substitution T A intron_variant LIRI-JP 11 116825986 116825986 single base substitution T C intron_variant LIRI-JP 11 116827230 116827230 single base substitution T C intron_variant LIRI-JP 11 116828781 116828781 single base substitution A G intron_variant LIRI-JP 11 116828781 116828781 single base substitution A G upstream_gene_variant LIRI-JP 11 116829753 116829753 single base substitution C T intron_variant LIRI-JP 11 116829753 116829753 single base substitution C T upstream_gene_variant LIRI-JP 11 116830251 116830251 single base substitution A G intron_variant LIRI-JP 11 116830251 116830251 single base substitution A G upstream_gene_variant LIRI-JP 11 116830817 116830817 single base substitution A G intron_variant LIRI-JP 11 116830817 116830817 single base substitution A G upstream_gene_variant LIRI-JP 11 116835790 116835790 single base substitution T C intron_variant LIRI-JP 11 116836175 116836175 single base substitution T C intron_variant LIRI-JP 11 116838242 116838242 single base substitution A G intron_variant LIRI-JP 11 116839143 116839143 single base substitution C A intron_variant LIRI-JP 11 116840073 116840073 single base substitution A C intron_variant LIRI-JP 11 116840814 116840814 single base substitution G C intron_variant LIRI-JP 11 116841910 116841910 single base substitution T A intron_variant LIRI-JP 11 116843329 116843329 single base substitution T C intron_variant LIRI-JP 11 116845082 116845082 single base substitution T C intron_variant LIRI-JP 11 116847166 116847166 single base substitution T C intron_variant LIRI-JP 11 116847732 116847732 single base substitution G A intron_variant LIRI-JP 11 116848151 116848151 single base substitution T C intron_variant LIRI-JP 11 116848863 116848863 single base substitution G A intron_variant LIRI-JP 11 116851467 116851467 single base substitution C A intron_variant LIRI-JP 11 116853177 116853177 single base substitution T C intron_variant LIRI-JP 11 116853377 116853377 single base substitution T G intron_variant LIRI-JP 11 116853643 116853643 single base substitution G C intron_variant LIRI-JP 11 116856283 116856283 single base substitution T A intron_variant LIRI-JP 11 116856473 116856473 single base substitution G A intron_variant LIRI-JP 11 116857055 116857055 single base substitution T C intron_variant LIRI-JP 11 116857075 116857075 single base substitution T C intron_variant LIRI-JP 11 116857224 116857224 single base substitution C A intron_variant LIRI-JP 11 116857297 116857297 single base substitution A G intron_variant LIRI-JP 11 116858328 116858328 single base substitution A C intron_variant LIRI-JP 11 116859779 116859779 single base substitution T C intron_variant LIRI-JP 11 116862926 116862926 single base substitution A T intron_variant LIRI-JP 11 116863129 116863129 single base substitution C T intron_variant LIRI-JP 11 116864031 116864031 single base substitution T C intron_variant LIRI-JP 11 116864459 116864459 single base substitution C T intron_variant LIRI-JP 11 116866298 116866298 single base substitution T C intron_variant LIRI-JP 11 116866415 116866415 single base substitution A G intron_variant LIRI-JP 11 116866937 116866937 single base substitution T A intron_variant LIRI-JP 11 116868394 116868394 single base substitution T G intron_variant LIRI-JP 11 116871152 116871152 insertion of <=200bp - T intron_variant LIRI-JP 11 116872822 116872822 single base substitution T C intron_variant LIRI-JP 11 116873426 116873426 single base substitution T A intron_variant LIRI-JP 11 116880435 116880435 single base substitution T C intron_variant LIRI-JP 11 116880751 116880751 single base substitution T C intron_variant LIRI-JP 11 116881528 116881528 single base substitution T C intron_variant LIRI-JP 11 116882203 116882203 single base substitution G A intron_variant LIRI-JP 11 116882419 116882419 single base substitution C A intron_variant LIRI-JP 11 116882996 116882996 single base substitution T C intron_variant LIRI-JP 11 116888601 116888601 single base substitution C T intron_variant LIRI-JP 11 116888623 116888623 single base substitution T C intron_variant LIRI-JP 11 116888956 116888956 single base substitution T C intron_variant LIRI-JP 11 116891607 116891607 single base substitution A G intron_variant LIRI-JP 11 116891752 116891752 single base substitution T G intron_variant LIRI-JP 11 116893633 116893633 single base substitution T G intron_variant LIRI-JP 11 116893819 116893819 single base substitution T C intron_variant LIRI-JP 11 116896687 116896687 single base substitution T C intron_variant LIRI-JP 11 116900751 116900751 single base substitution A G intron_variant LIRI-JP 11 116900763 116900763 single base substitution A T intron_variant LIRI-JP 11 116900891 116900891 single base substitution T A intron_variant LIRI-JP 11 116901624 116901624 single base substitution T C intron_variant LIRI-JP 11 116903854 116903854 single base substitution T C intron_variant LIRI-JP 11 116903889 116903889 single base substitution T A intron_variant LIRI-JP 11 116904289 116904289 single base substitution G A intron_variant LIRI-JP 11 116904932 116904932 single base substitution G C intron_variant LIRI-JP 11 116905383 116905383 insertion of <=200bp - A intron_variant LIRI-JP 11 116912271 116912271 single base substitution G A intron_variant LIRI-JP 11 116913416 116913416 single base substitution G A intron_variant LIRI-JP 11 116914727 116914727 single base substitution T C intron_variant LIRI-JP 11 116914771 116914771 single base substitution T C intron_variant LIRI-JP 11 116914931 116914931 single base substitution T G intron_variant LIRI-JP 11 116915392 116915392 single base substitution A C intron_variant LIRI-JP 11 116915926 116915926 single base substitution C T intron_variant LIRI-JP 11 116916564 116916564 single base substitution T C intron_variant LIRI-JP 11 116916599 116916599 deletion of <=200bp A - intron_variant LIRI-JP 11 116917571 116917571 single base substitution G A intron_variant LIRI-JP 11 116920712 116920713 deletion of <=200bp TA - intron_variant LIRI-JP 11 116923341 116923341 insertion of <=200bp - A intron_variant LIRI-JP 11 116925154 116925154 single base substitution A G intron_variant LIRI-JP 11 116926053 116926053 single base substitution T G intron_variant LIRI-JP 11 116928366 116928366 single base substitution T C intron_variant LIRI-JP 11 116928549 116928549 single base substitution T C intron_variant LIRI-JP 11 116929262 116929262 single base substitution T C intron_variant LIRI-JP 11 116932682 116932682 single base substitution C A intron_variant LIRI-JP 11 116932778 116932778 single base substitution C G intron_variant LIRI-JP 11 116932896 116932896 single base substitution C T intron_variant LIRI-JP 11 116934378 116934378 single base substitution T G intron_variant LIRI-JP 11 116937034 116937034 single base substitution T C intron_variant LIRI-JP 11 116937797 116937797 single base substitution A G intron_variant LIRI-JP 11 116938723 116938723 single base substitution G C intron_variant LIRI-JP 11 116942119 116942119 single base substitution C T intron_variant LIRI-JP 11 116944040 116944040 single base substitution T C intron_variant LIRI-JP 11 116948080 116948080 single base substitution C G intron_variant LIRI-JP 11 116948447 116948447 single base substitution A T intron_variant LIRI-JP 11 116948547 116948547 single base substitution A G intron_variant LIRI-JP 11 116948954 116948954 single base substitution T C intron_variant LIRI-JP 11 116948984 116948984 single base substitution T A intron_variant LIRI-JP 11 116949376 116949376 single base substitution C T intron_variant LIRI-JP 11 116950217 116950217 single base substitution T C intron_variant LIRI-JP 11 116950330 116950330 single base substitution G A intron_variant LIRI-JP 11 116950937 116950937 single base substitution C T intron_variant LIRI-JP 11 116951935 116951935 single base substitution T C intron_variant LIRI-JP 11 116952155 116952155 single base substitution C A intron_variant LIRI-JP 11 116952155 116952155 single base substitution C T intron_variant LIRI-JP 11 116952332 116952332 single base substitution T C intron_variant LIRI-JP 11 116953225 116953225 single base substitution T C intron_variant LIRI-JP 11 116953823 116953823 single base substitution A C intron_variant LIRI-JP 11 116953830 116953830 single base substitution T C intron_variant LIRI-JP 11 116953846 116953846 single base substitution C G intron_variant LIRI-JP 11 116957890 116957890 single base substitution T A intron_variant LIRI-JP 11 116959093 116959093 single base substitution T C intron_variant LIRI-JP 11 116959362 116959362 single base substitution T C intron_variant LIRI-JP 11 116959843 116959843 single base substitution C A intron_variant LIRI-JP 11 116960788 116960788 single base substitution C A intron_variant LIRI-JP 11 116962132 116962132 single base substitution G A intron_variant LIRI-JP 11 116962800 116962800 single base substitution C T intron_variant LIRI-JP 11 116963346 116963346 single base substitution G A intron_variant LIRI-JP 11 116966118 116966118 single base substitution C A intron_variant LIRI-JP 11 116969799 116969799 single base substitution G T upstream_gene_variant LIRI-JP 11 116971282 116971282 single base substitution G A upstream_gene_variant LUSC-KR 11 116711189 116711189 single base substitution G C downstream_gene_variant LUSC-KR 11 116713320 116713320 single base substitution C T downstream_gene_variant LUSC-KR 11 116715784 116715784 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 116715784 116715784 single base substitution G A downstream_gene_variant LUSC-KR 11 116715784 116715784 single base substitution G A exon_variant LUSC-KR 11 116717370 116717370 single base substitution C T intron_variant LUSC-KR 11 116725799 116725799 single base substitution C A downstream_gene_variant LUSC-KR 11 116725799 116725799 single base substitution C A intron_variant LUSC-KR 11 116726165 116726165 single base substitution C G downstream_gene_variant LUSC-KR 11 116726165 116726165 single base substitution C G intron_variant LUSC-KR 11 116729202 116729202 single base substitution C T 3_prime_UTR_variant LUSC-KR 11 116729202 116729202 single base substitution C T exon_variant LUSC-KR 11 116729202 116729202 single base substitution C T synonymous_variant S222S 666G>A LUSC-KR 11 116729202 116729202 single base substitution C T synonymous_variant S726S 2178G>A LUSC-KR 11 116729202 116729202 single base substitution C T synonymous_variant S827S 2481G>A LUSC-KR 11 116729202 116729202 single base substitution C T synonymous_variant S885S 2655G>A LUSC-KR 11 116729202 116729202 single base substitution C T synonymous_variant S887S 2661G>A LUSC-KR 11 116729202 116729202 single base substitution C T synonymous_variant S945S 2835G>A LUSC-KR 11 116729202 116729202 single base substitution C T synonymous_variant S986S 2958G>A LUSC-KR 11 116735837 116735837 single base substitution T G downstream_gene_variant LUSC-KR 11 116735837 116735837 single base substitution T G intron_variant LUSC-KR 11 116735837 116735837 single base substitution T G upstream_gene_variant LUSC-KR 11 116745857 116745857 single base substitution G A intron_variant LUSC-KR 11 116745857 116745857 single base substitution G A upstream_gene_variant LUSC-KR 11 116750872 116750872 single base substitution C T intron_variant LUSC-KR 11 116750872 116750872 single base substitution C T upstream_gene_variant LUSC-KR 11 116751819 116751819 single base substitution G A intron_variant LUSC-KR 11 116755001 116755001 single base substitution C T intron_variant LUSC-KR 11 116761315 116761315 single base substitution G T downstream_gene_variant LUSC-KR 11 116761315 116761315 single base substitution G T intron_variant LUSC-KR 11 116762283 116762283 single base substitution C A downstream_gene_variant LUSC-KR 11 116762283 116762283 single base substitution C A intron_variant LUSC-KR 11 116763917 116763917 single base substitution T C downstream_gene_variant LUSC-KR 11 116763917 116763917 single base substitution T C intron_variant LUSC-KR 11 116769144 116769144 single base substitution T A intron_variant LUSC-KR 11 116769376 116769376 single base substitution T C intron_variant LUSC-KR 11 116769398 116769398 single base substitution T A intron_variant LUSC-KR 11 116771231 116771231 single base substitution G A downstream_gene_variant LUSC-KR 11 116771231 116771231 single base substitution G A intron_variant LUSC-KR 11 116772017 116772017 single base substitution G A downstream_gene_variant LUSC-KR 11 116772017 116772017 single base substitution G A intron_variant LUSC-KR 11 116775417 116775417 single base substitution C G downstream_gene_variant LUSC-KR 11 116775417 116775417 single base substitution C G intron_variant LUSC-KR 11 116778627 116778627 single base substitution C A intron_variant LUSC-KR 11 116783089 116783089 single base substitution C T intron_variant LUSC-KR 11 116791277 116791277 single base substitution T G intron_variant LUSC-KR 11 116805113 116805113 single base substitution G C intron_variant LUSC-KR 11 116806649 116806649 single base substitution C A intron_variant LUSC-KR 11 116812660 116812660 single base substitution T C intron_variant LUSC-KR 11 116819735 116819735 single base substitution G C intron_variant LUSC-KR 11 116821011 116821011 single base substitution G C intron_variant LUSC-KR 11 116823418 116823418 single base substitution C G intron_variant LUSC-KR 11 116833081 116833081 single base substitution G A intron_variant LUSC-KR 11 116833115 116833115 single base substitution G A intron_variant LUSC-KR 11 116833724 116833724 single base substitution C A intron_variant LUSC-KR 11 116834260 116834260 single base substitution G C intron_variant LUSC-KR 11 116834624 116834624 single base substitution G C intron_variant LUSC-KR 11 116835418 116835418 single base substitution G A intron_variant LUSC-KR 11 116835498 116835498 single base substitution G A intron_variant LUSC-KR 11 116835664 116835664 single base substitution G A intron_variant LUSC-KR 11 116836394 116836394 single base substitution G A intron_variant LUSC-KR 11 116836427 116836427 single base substitution T C intron_variant LUSC-KR 11 116837640 116837640 single base substitution G C intron_variant LUSC-KR 11 116841299 116841299 single base substitution C T intron_variant LUSC-KR 11 116868149 116868149 single base substitution A G intron_variant LUSC-KR 11 116871912 116871912 single base substitution A G intron_variant LUSC-KR 11 116873042 116873042 single base substitution T C intron_variant LUSC-KR 11 116876317 116876317 single base substitution C G intron_variant LUSC-KR 11 116880620 116880620 single base substitution A T intron_variant LUSC-KR 11 116883725 116883725 single base substitution C A intron_variant LUSC-KR 11 116884633 116884633 single base substitution T G intron_variant LUSC-KR 11 116884675 116884675 single base substitution C T intron_variant LUSC-KR 11 116885880 116885880 single base substitution G C intron_variant LUSC-KR 11 116889794 116889794 single base substitution G A intron_variant LUSC-KR 11 116890545 116890545 single base substitution C T intron_variant LUSC-KR 11 116911685 116911685 single base substitution G T intron_variant LUSC-KR 11 116912183 116912183 single base substitution T C intron_variant LUSC-KR 11 116915356 116915356 single base substitution G C intron_variant LUSC-KR 11 116922265 116922265 single base substitution G A intron_variant LUSC-KR 11 116926553 116926553 single base substitution C T intron_variant LUSC-KR 11 116931965 116931965 single base substitution T C intron_variant LUSC-KR 11 116939428 116939428 single base substitution C A intron_variant LUSC-KR 11 116940598 116940598 single base substitution G A intron_variant LUSC-KR 11 116952443 116952443 single base substitution A G intron_variant LUSC-KR 11 116957308 116957308 single base substitution G A intron_variant LUSC-KR 11 116963003 116963003 single base substitution C T intron_variant LUSC-KR 11 116964504 116964504 single base substitution G C intron_variant LUSC-KR 11 116968011 116968011 single base substitution C A intron_variant LUSC-KR 11 116969338 116969338 single base substitution C A upstream_gene_variant LUSC-US 11 116717266 116717266 single base substitution C A 3_prime_UTR_variant LUSC-US 11 116717266 116717266 single base substitution C A exon_variant LUSC-US 11 116717266 116717266 single base substitution C A intron_variant LUSC-US 11 116717266 116717266 single base substitution C A missense_variant C1052F 3155G>T LUSC-US 11 116717266 116717266 single base substitution C A missense_variant C1153F 3458G>T LUSC-US 11 116717266 116717266 single base substitution C A missense_variant C1211F 3632G>T LUSC-US 11 116717266 116717266 single base substitution C A missense_variant C1213F 3638G>T LUSC-US 11 116717266 116717266 single base substitution C A missense_variant C1271F 3812G>T LUSC-US 11 116717266 116717266 single base substitution C A missense_variant C1312F 3935G>T LUSC-US 11 116717266 116717266 single base substitution C A missense_variant C548F 1643G>T LUSC-US 11 116719898 116719898 single base substitution C A 3_prime_UTR_variant LUSC-US 11 116719898 116719898 single base substitution C A exon_variant LUSC-US 11 116719898 116719898 single base substitution C A stop_gained E1087* 3259G>T LUSC-US 11 116719898 116719898 single base substitution C A stop_gained E1145* 3433G>T LUSC-US 11 116719898 116719898 single base substitution C A stop_gained E1147* 3439G>T LUSC-US 11 116719898 116719898 single base substitution C A stop_gained E1205* 3613G>T LUSC-US 11 116719898 116719898 single base substitution C A stop_gained E1246* 3736G>T LUSC-US 11 116719898 116719898 single base substitution C A stop_gained E482* 1444G>T LUSC-US 11 116719898 116719898 single base substitution C A stop_gained E986* 2956G>T LUSC-US 11 116719898 116719898 single base substitution C A upstream_gene_variant LUSC-US 11 116728678 116728678 single base substitution C T 3_prime_UTR_variant LUSC-US 11 116728678 116728678 single base substitution C T exon_variant LUSC-US 11 116728678 116728678 single base substitution C T missense_variant G1002D 3005G>A LUSC-US 11 116728678 116728678 single base substitution C T missense_variant G1060D 3179G>A LUSC-US 11 116728678 116728678 single base substitution C T missense_variant G1062D 3185G>A LUSC-US 11 116728678 116728678 single base substitution C T missense_variant G1120D 3359G>A LUSC-US 11 116728678 116728678 single base substitution C T missense_variant G1161D 3482G>A LUSC-US 11 116728678 116728678 single base substitution C T missense_variant G397D 1190G>A LUSC-US 11 116728678 116728678 single base substitution C T missense_variant G901D 2702G>A LUSC-US 11 116729286 116729286 single base substitution G A exon_variant LUSC-US 11 116729286 116729286 single base substitution G A intron_variant LUSC-US 11 116729286 116729286 single base substitution G A synonymous_variant T859T 2577C>T LUSC-US 11 116729286 116729286 single base substitution G A synonymous_variant T917T 2751C>T LUSC-US 11 116729286 116729286 single base substitution G A synonymous_variant T958T 2874C>T LUSC-US 11 116729308 116729308 single base substitution G A exon_variant LUSC-US 11 116729308 116729308 single base substitution G A intron_variant LUSC-US 11 116729308 116729308 single base substitution G A missense_variant T852I 2555C>T LUSC-US 11 116729308 116729308 single base substitution G A missense_variant T910I 2729C>T LUSC-US 11 116729308 116729308 single base substitution G A missense_variant T951I 2852C>T LUSC-US 11 116729359 116729359 single base substitution T C exon_variant LUSC-US 11 116729359 116729359 single base substitution T C intron_variant LUSC-US 11 116729359 116729359 single base substitution T C missense_variant H835R 2504A>G LUSC-US 11 116729359 116729359 single base substitution T C missense_variant H893R 2678A>G LUSC-US 11 116729359 116729359 single base substitution T C missense_variant H934R 2801A>G LUSC-US 11 116730126 116730126 single base substitution C T 3_prime_UTR_variant LUSC-US 11 116730126 116730126 single base substitution C T exon_variant LUSC-US 11 116730126 116730126 single base substitution C T missense_variant A163T 487G>A LUSC-US 11 116730126 116730126 single base substitution C T missense_variant A667T 1999G>A LUSC-US 11 116730126 116730126 single base substitution C T missense_variant A768T 2302G>A LUSC-US 11 116730126 116730126 single base substitution C T missense_variant A826T 2476G>A LUSC-US 11 116730126 116730126 single base substitution C T missense_variant A867T 2599G>A LUSC-US 11 116732021 116732021 single base substitution G C 3_prime_UTR_variant LUSC-US 11 116732021 116732021 single base substitution G C exon_variant LUSC-US 11 116732021 116732021 single base substitution G C intron_variant LUSC-US 11 116732021 116732021 single base substitution G C synonymous_variant P591P 1773C>G LUSC-US 11 116732021 116732021 single base substitution G C synonymous_variant P692P 2076C>G LUSC-US 11 116732021 116732021 single base substitution G C synonymous_variant P750P 2250C>G LUSC-US 11 116732021 116732021 single base substitution G C synonymous_variant P791P 2373C>G LUSC-US 11 116734532 116734532 single base substitution G C downstream_gene_variant LUSC-US 11 116734532 116734532 single base substitution G C exon_variant LUSC-US 11 116734532 116734532 single base substitution G C missense_variant S445C 1334C>G LUSC-US 11 116734532 116734532 single base substitution G C missense_variant S546C 1637C>G LUSC-US 11 116734532 116734532 single base substitution G C missense_variant S604C 1811C>G LUSC-US 11 116734532 116734532 single base substitution G C missense_variant S645C 1934C>G LUSC-US 11 116734532 116734532 single base substitution G C splice_region_variant LUSC-US 11 116734532 116734532 single base substitution G C upstream_gene_variant LUSC-US 11 116744752 116744752 single base substitution A G 3_prime_UTR_variant LUSC-US 11 116744752 116744752 single base substitution A G 5_prime_UTR_variant LUSC-US 11 116744752 116744752 single base substitution A G downstream_gene_variant LUSC-US 11 116744752 116744752 single base substitution A G missense_variant L324P 971T>C LUSC-US 11 116744752 116744752 single base substitution A G missense_variant L377P 1130T>C LUSC-US 11 116744752 116744752 single base substitution A G missense_variant L385P 1154T>C LUSC-US 11 116744752 116744752 single base substitution A G missense_variant L425P 1274T>C LUSC-US 11 116744752 116744752 single base substitution A G missense_variant L435P 1304T>C LUSC-US 11 116744752 116744752 single base substitution A G missense_variant L476P 1427T>C LUSC-US 11 116744752 116744752 single base substitution A G missense_variant L483P 1448T>C LUSC-US 11 116744752 116744752 single base substitution A G upstream_gene_variant MALY-DE 11 116722379 116722379 single base substitution A C intron_variant MALY-DE 11 116722379 116722379 single base substitution A C upstream_gene_variant MALY-DE 11 116735751 116735751 single base substitution T G downstream_gene_variant MALY-DE 11 116735751 116735751 single base substitution T G exon_variant MALY-DE 11 116735751 116735751 single base substitution T G intron_variant MALY-DE 11 116735751 116735751 single base substitution T G upstream_gene_variant MALY-DE 11 116738585 116738585 single base substitution C T downstream_gene_variant MALY-DE 11 116738585 116738585 single base substitution C T exon_variant MALY-DE 11 116738585 116738585 single base substitution C T intron_variant MALY-DE 11 116738585 116738585 single base substitution C T upstream_gene_variant MALY-DE 11 116754149 116754149 single base substitution G A intron_variant MALY-DE 11 116768195 116768195 single base substitution G C intron_variant MALY-DE 11 116772883 116772883 single base substitution A T downstream_gene_variant MALY-DE 11 116772883 116772883 single base substitution A T intron_variant MALY-DE 11 116773221 116773221 insertion of <=200bp - T downstream_gene_variant MALY-DE 11 116773221 116773221 insertion of <=200bp - T intron_variant MALY-DE 11 116781870 116781870 single base substitution A T intron_variant MALY-DE 11 116786105 116786105 single base substitution T G intron_variant MALY-DE 11 116796735 116796735 single base substitution G A intron_variant MALY-DE 11 116805669 116805669 single base substitution C T intron_variant MALY-DE 11 116815821 116815821 single base substitution G A intron_variant MALY-DE 11 116818797 116818797 single base substitution T C intron_variant MALY-DE 11 116818826 116818826 single base substitution T A intron_variant MALY-DE 11 116824975 116824975 single base substitution A C intron_variant MALY-DE 11 116830340 116830340 single base substitution A G intron_variant MALY-DE 11 116830340 116830340 single base substitution A G upstream_gene_variant MALY-DE 11 116834072 116834072 single base substitution T G intron_variant MALY-DE 11 116851171 116851171 single base substitution C T intron_variant MALY-DE 11 116852421 116852421 single base substitution T C intron_variant MALY-DE 11 116854900 116854900 single base substitution A G intron_variant MALY-DE 11 116860545 116860545 single base substitution T C intron_variant MALY-DE 11 116860698 116860698 single base substitution G C intron_variant MALY-DE 11 116875109 116875109 single base substitution G A intron_variant MALY-DE 11 116879291 116879291 single base substitution T G intron_variant MALY-DE 11 116880604 116880604 single base substitution C T intron_variant MALY-DE 11 116893170 116893170 single base substitution T G intron_variant MALY-DE 11 116893629 116893629 single base substitution A G intron_variant MALY-DE 11 116895828 116895828 single base substitution C T intron_variant MALY-DE 11 116909148 116909148 single base substitution C A intron_variant MALY-DE 11 116913216 116913216 single base substitution A G intron_variant MALY-DE 11 116923826 116923826 single base substitution G T intron_variant MALY-DE 11 116942090 116942090 single base substitution G A intron_variant MALY-DE 11 116946861 116946861 single base substitution G A intron_variant MALY-DE 11 116948812 116948812 single base substitution T C intron_variant MALY-DE 11 116954855 116954855 single base substitution T G intron_variant MALY-DE 11 116958493 116958493 single base substitution C T intron_variant MALY-DE 11 116961750 116961750 single base substitution A C intron_variant MALY-DE 11 116968554 116968554 single base substitution T A intron_variant MELA-AU 11 116710055 116710055 single base substitution G A downstream_gene_variant MELA-AU 11 116710316 116710316 single base substitution C T downstream_gene_variant MELA-AU 11 116712333 116712333 single base substitution G A downstream_gene_variant MELA-AU 11 116713165 116713165 single base substitution C T downstream_gene_variant MELA-AU 11 116713313 116713313 single base substitution G A downstream_gene_variant MELA-AU 11 116714083 116714083 single base substitution C T downstream_gene_variant MELA-AU 11 116714563 116714563 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116714563 116714563 single base substitution G A downstream_gene_variant MELA-AU 11 116714563 116714563 single base substitution G A exon_variant MELA-AU 11 116715313 116715313 single base substitution T A 3_prime_UTR_variant MELA-AU 11 116715313 116715313 single base substitution T A downstream_gene_variant MELA-AU 11 116715313 116715313 single base substitution T A exon_variant MELA-AU 11 116715882 116715882 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116715882 116715882 single base substitution G A downstream_gene_variant MELA-AU 11 116715882 116715882 single base substitution G A exon_variant MELA-AU 11 116715926 116715926 single base substitution C T 3_prime_UTR_variant MELA-AU 11 116715926 116715926 single base substitution C T downstream_gene_variant MELA-AU 11 116715926 116715926 single base substitution C T exon_variant MELA-AU 11 116715943 116715943 single base substitution C T 3_prime_UTR_variant MELA-AU 11 116715943 116715943 single base substitution C T downstream_gene_variant MELA-AU 11 116715943 116715943 single base substitution C T exon_variant MELA-AU 11 116717040 116717040 single base substitution G A intron_variant MELA-AU 11 116717324 116717324 single base substitution G A intron_variant MELA-AU 11 116717338 116717338 single base substitution G A intron_variant MELA-AU 11 116717743 116717743 single base substitution G A intron_variant MELA-AU 11 116719658 116719658 single base substitution G A intron_variant MELA-AU 11 116719797 116719797 single base substitution G A intron_variant MELA-AU 11 116720213 116720213 single base substitution A T intron_variant MELA-AU 11 116720213 116720213 single base substitution A T upstream_gene_variant MELA-AU 11 116720868 116720868 single base substitution C T intron_variant MELA-AU 11 116720868 116720868 single base substitution C T upstream_gene_variant MELA-AU 11 116721543 116721543 single base substitution G A intron_variant MELA-AU 11 116721543 116721543 single base substitution G A upstream_gene_variant MELA-AU 11 116721926 116721926 single base substitution G A intron_variant MELA-AU 11 116721926 116721926 single base substitution G A upstream_gene_variant MELA-AU 11 116722766 116722766 single base substitution G A downstream_gene_variant MELA-AU 11 116722766 116722766 single base substitution G A intron_variant MELA-AU 11 116722766 116722766 single base substitution G A upstream_gene_variant MELA-AU 11 116723392 116723392 single base substitution G A downstream_gene_variant MELA-AU 11 116723392 116723392 single base substitution G A intron_variant MELA-AU 11 116723392 116723392 single base substitution G A upstream_gene_variant MELA-AU 11 116723440 116723440 single base substitution C T downstream_gene_variant MELA-AU 11 116723440 116723440 single base substitution C T intron_variant MELA-AU 11 116723440 116723440 single base substitution C T upstream_gene_variant MELA-AU 11 116724161 116724161 single base substitution G A downstream_gene_variant MELA-AU 11 116724161 116724161 single base substitution G A intron_variant MELA-AU 11 116724161 116724161 single base substitution G A upstream_gene_variant MELA-AU 11 116725333 116725333 single base substitution G A downstream_gene_variant MELA-AU 11 116725333 116725333 single base substitution G A intron_variant MELA-AU 11 116725714 116725714 single base substitution A G downstream_gene_variant MELA-AU 11 116725714 116725714 single base substitution A G intron_variant MELA-AU 11 116726409 116726409 single base substitution C T downstream_gene_variant MELA-AU 11 116726409 116726409 single base substitution C T intron_variant MELA-AU 11 116728595 116728595 single base substitution C A 3_prime_UTR_variant MELA-AU 11 116728595 116728595 single base substitution C A exon_variant MELA-AU 11 116728595 116728595 single base substitution C A stop_gained E1030* 3088G>T MELA-AU 11 116728595 116728595 single base substitution C A stop_gained E1088* 3262G>T MELA-AU 11 116728595 116728595 single base substitution C A stop_gained E1090* 3268G>T MELA-AU 11 116728595 116728595 single base substitution C A stop_gained E1148* 3442G>T MELA-AU 11 116728595 116728595 single base substitution C A stop_gained E1189* 3565G>T MELA-AU 11 116728595 116728595 single base substitution C A stop_gained E425* 1273G>T MELA-AU 11 116728595 116728595 single base substitution C A stop_gained E929* 2785G>T MELA-AU 11 116729079 116729079 single base substitution C T 3_prime_UTR_variant MELA-AU 11 116729079 116729079 single base substitution C T exon_variant MELA-AU 11 116729079 116729079 single base substitution C T synonymous_variant R1027R 3081G>A MELA-AU 11 116729079 116729079 single base substitution C T synonymous_variant R263R 789G>A MELA-AU 11 116729079 116729079 single base substitution C T synonymous_variant R767R 2301G>A MELA-AU 11 116729079 116729079 single base substitution C T synonymous_variant R868R 2604G>A MELA-AU 11 116729079 116729079 single base substitution C T synonymous_variant R926R 2778G>A MELA-AU 11 116729079 116729079 single base substitution C T synonymous_variant R928R 2784G>A MELA-AU 11 116729079 116729079 single base substitution C T synonymous_variant R986R 2958G>A MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P1016F 3046CC>TT MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P252F 754CC>TT MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P756F 2266CC>TT MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P857F 2569CC>TT MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P915F 2743CC>TT MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P917F 2749CC>TT MELA-AU 11 116729113 116729114 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P975F 2923CC>TT MELA-AU 11 116729132 116729132 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116729132 116729132 single base substitution G A exon_variant MELA-AU 11 116729132 116729132 single base substitution G A missense_variant L1010F 3028C>T MELA-AU 11 116729132 116729132 single base substitution G A missense_variant L246F 736C>T MELA-AU 11 116729132 116729132 single base substitution G A missense_variant L750F 2248C>T MELA-AU 11 116729132 116729132 single base substitution G A missense_variant L851F 2551C>T MELA-AU 11 116729132 116729132 single base substitution G A missense_variant L909F 2725C>T MELA-AU 11 116729132 116729132 single base substitution G A missense_variant L911F 2731C>T MELA-AU 11 116729132 116729132 single base substitution G A missense_variant L969F 2905C>T MELA-AU 11 116729362 116729362 single base substitution G A exon_variant MELA-AU 11 116729362 116729362 single base substitution G A intron_variant MELA-AU 11 116729362 116729362 single base substitution G A missense_variant P834L 2501C>T MELA-AU 11 116729362 116729362 single base substitution G A missense_variant P892L 2675C>T MELA-AU 11 116729362 116729362 single base substitution G A missense_variant P933L 2798C>T MELA-AU 11 116729393 116729393 single base substitution G A exon_variant MELA-AU 11 116729393 116729393 single base substitution G A intron_variant MELA-AU 11 116729393 116729393 single base substitution G A missense_variant P824S 2470C>T MELA-AU 11 116729393 116729393 single base substitution G A missense_variant P882S 2644C>T MELA-AU 11 116729393 116729393 single base substitution G A missense_variant P923S 2767C>T MELA-AU 11 116729395 116729395 single base substitution G A exon_variant MELA-AU 11 116729395 116729395 single base substitution G A intron_variant MELA-AU 11 116729395 116729395 single base substitution G A missense_variant S823F 2468C>T MELA-AU 11 116729395 116729395 single base substitution G A missense_variant S881F 2642C>T MELA-AU 11 116729395 116729395 single base substitution G A missense_variant S922F 2765C>T MELA-AU 11 116729517 116729517 single base substitution A G intron_variant MELA-AU 11 116729709 116729710 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 116730017 116730017 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116730017 116730017 single base substitution G A exon_variant MELA-AU 11 116730017 116730017 single base substitution G A missense_variant S199F 596C>T MELA-AU 11 116730017 116730017 single base substitution G A missense_variant S703F 2108C>T MELA-AU 11 116730017 116730017 single base substitution G A missense_variant S804F 2411C>T MELA-AU 11 116730017 116730017 single base substitution G A missense_variant S862F 2585C>T MELA-AU 11 116730017 116730017 single base substitution G A missense_variant S903F 2708C>T MELA-AU 11 116730590 116730590 single base substitution G A intron_variant MELA-AU 11 116730609 116730609 single base substitution G A intron_variant MELA-AU 11 116730855 116730855 single base substitution G A intron_variant MELA-AU 11 116731307 116731307 single base substitution G A intron_variant MELA-AU 11 116731658 116731658 single base substitution G A intron_variant MELA-AU 11 116731943 116731943 single base substitution C T intron_variant MELA-AU 11 116732561 116732561 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116732561 116732561 single base substitution G A exon_variant MELA-AU 11 116732561 116732561 single base substitution G A stop_gained Q564* 1690C>T MELA-AU 11 116732561 116732561 single base substitution G A stop_gained Q665* 1993C>T MELA-AU 11 116732561 116732561 single base substitution G A stop_gained Q723* 2167C>T MELA-AU 11 116732561 116732561 single base substitution G A stop_gained Q764* 2290C>T MELA-AU 11 116732561 116732561 single base substitution G A synonymous_variant S96S 288C>T MELA-AU 11 116732561 116732561 single base substitution G A upstream_gene_variant MELA-AU 11 116733050 116733050 single base substitution G A splice_region_variant MELA-AU 11 116733050 116733050 single base substitution G A upstream_gene_variant MELA-AU 11 116733392 116733392 single base substitution G A intron_variant MELA-AU 11 116733392 116733392 single base substitution G A upstream_gene_variant MELA-AU 11 116734298 116734298 single base substitution G A downstream_gene_variant MELA-AU 11 116734298 116734298 single base substitution G A intron_variant MELA-AU 11 116734298 116734298 single base substitution G A upstream_gene_variant MELA-AU 11 116734597 116734597 single base substitution G A downstream_gene_variant MELA-AU 11 116734597 116734597 single base substitution G A exon_variant MELA-AU 11 116734597 116734597 single base substitution G A intron_variant MELA-AU 11 116734597 116734597 single base substitution G A upstream_gene_variant MELA-AU 11 116735109 116735109 single base substitution G A downstream_gene_variant MELA-AU 11 116735109 116735109 single base substitution G A exon_variant MELA-AU 11 116735109 116735109 single base substitution G A intron_variant MELA-AU 11 116735109 116735109 single base substitution G A upstream_gene_variant MELA-AU 11 116736075 116736075 single base substitution G A downstream_gene_variant MELA-AU 11 116736075 116736075 single base substitution G A intron_variant MELA-AU 11 116736075 116736075 single base substitution G A upstream_gene_variant MELA-AU 11 116736373 116736373 single base substitution G A downstream_gene_variant MELA-AU 11 116736373 116736373 single base substitution G A intron_variant MELA-AU 11 116736373 116736373 single base substitution G A upstream_gene_variant MELA-AU 11 116737106 116737106 single base substitution G A downstream_gene_variant MELA-AU 11 116737106 116737106 single base substitution G A intron_variant MELA-AU 11 116737106 116737106 single base substitution G A upstream_gene_variant MELA-AU 11 116737123 116737123 single base substitution A G downstream_gene_variant MELA-AU 11 116737123 116737123 single base substitution A G intron_variant MELA-AU 11 116737123 116737123 single base substitution A G upstream_gene_variant MELA-AU 11 116737479 116737479 single base substitution G A downstream_gene_variant MELA-AU 11 116737479 116737479 single base substitution G A intron_variant MELA-AU 11 116737479 116737479 single base substitution G A upstream_gene_variant MELA-AU 11 116737716 116737716 single base substitution A G downstream_gene_variant MELA-AU 11 116737716 116737716 single base substitution A G intron_variant MELA-AU 11 116737716 116737716 single base substitution A G upstream_gene_variant MELA-AU 11 116737925 116737925 single base substitution G A downstream_gene_variant MELA-AU 11 116737925 116737925 single base substitution G A intron_variant MELA-AU 11 116737925 116737925 single base substitution G A upstream_gene_variant MELA-AU 11 116738182 116738182 single base substitution G A downstream_gene_variant MELA-AU 11 116738182 116738182 single base substitution G A intron_variant MELA-AU 11 116738182 116738182 single base substitution G A upstream_gene_variant MELA-AU 11 116738252 116738252 single base substitution G A downstream_gene_variant MELA-AU 11 116738252 116738252 single base substitution G A intron_variant MELA-AU 11 116738252 116738252 single base substitution G A upstream_gene_variant MELA-AU 11 116738479 116738479 single base substitution G A downstream_gene_variant MELA-AU 11 116738479 116738479 single base substitution G A exon_variant MELA-AU 11 116738479 116738479 single base substitution G A intron_variant MELA-AU 11 116738479 116738479 single base substitution G A upstream_gene_variant MELA-AU 11 116738850 116738850 single base substitution G A downstream_gene_variant MELA-AU 11 116738850 116738850 single base substitution G A intron_variant MELA-AU 11 116738850 116738850 single base substitution G A upstream_gene_variant MELA-AU 11 116739567 116739567 single base substitution A G 3_prime_UTR_variant MELA-AU 11 116739567 116739567 single base substitution A G intron_variant MELA-AU 11 116739567 116739567 single base substitution A G upstream_gene_variant MELA-AU 11 116739634 116739635 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 11 116739634 116739635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116739634 116739635 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 116740278 116740278 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116740278 116740278 single base substitution G A downstream_gene_variant MELA-AU 11 116740278 116740278 single base substitution G A intron_variant MELA-AU 11 116740278 116740278 single base substitution G A upstream_gene_variant MELA-AU 11 116740402 116740402 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116740402 116740402 single base substitution G A downstream_gene_variant MELA-AU 11 116740402 116740402 single base substitution G A intron_variant MELA-AU 11 116740402 116740402 single base substitution G A upstream_gene_variant MELA-AU 11 116740629 116740629 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116740629 116740629 single base substitution G A downstream_gene_variant MELA-AU 11 116740629 116740629 single base substitution G A intron_variant MELA-AU 11 116740629 116740629 single base substitution G A upstream_gene_variant MELA-AU 11 116740799 116740799 single base substitution G A 3_prime_UTR_variant MELA-AU 11 116740799 116740799 single base substitution G A downstream_gene_variant MELA-AU 11 116740799 116740799 single base substitution G A intron_variant MELA-AU 11 116742194 116742194 single base substitution G A downstream_gene_variant MELA-AU 11 116742194 116742194 single base substitution G A intron_variant MELA-AU 11 116742194 116742194 single base substitution G A upstream_gene_variant MELA-AU 11 116742317 116742317 single base substitution G T downstream_gene_variant MELA-AU 11 116742317 116742317 single base substitution G T intron_variant MELA-AU 11 116742317 116742317 single base substitution G T upstream_gene_variant MELA-AU 11 116743237 116743238 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 116743237 116743238 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 116743237 116743238 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 116743343 116743343 single base substitution A G downstream_gene_variant MELA-AU 11 116743343 116743343 single base substitution A G intron_variant MELA-AU 11 116743343 116743343 single base substitution A G upstream_gene_variant MELA-AU 11 116743959 116743959 single base substitution G A downstream_gene_variant MELA-AU 11 116743959 116743959 single base substitution G A intron_variant MELA-AU 11 116743959 116743959 single base substitution G A upstream_gene_variant MELA-AU 11 116744018 116744018 single base substitution C T downstream_gene_variant MELA-AU 11 116744018 116744018 single base substitution C T intron_variant MELA-AU 11 116744018 116744018 single base substitution C T upstream_gene_variant MELA-AU 11 116744635 116744635 single base substitution C T 3_prime_UTR_variant MELA-AU 11 116744635 116744635 single base substitution C T 5_prime_UTR_variant MELA-AU 11 116744635 116744635 single base substitution C T downstream_gene_variant MELA-AU 11 116744635 116744635 single base substitution C T missense_variant G363E 1088G>A MELA-AU 11 116744635 116744635 single base substitution C T missense_variant G416E 1247G>A MELA-AU 11 116744635 116744635 single base substitution C T missense_variant G424E 1271G>A MELA-AU 11 116744635 116744635 single base substitution C T missense_variant G464E 1391G>A MELA-AU 11 116744635 116744635 single base substitution C T missense_variant G474E 1421G>A MELA-AU 11 116744635 116744635 single base substitution C T missense_variant G515E 1544G>A MELA-AU 11 116744635 116744635 single base substitution C T missense_variant G522E 1565G>A MELA-AU 11 116744635 116744635 single base substitution C T upstream_gene_variant MELA-AU 11 116744888 116744888 single base substitution A C intron_variant MELA-AU 11 116744888 116744888 single base substitution A C upstream_gene_variant MELA-AU 11 116745277 116745277 single base substitution G A intron_variant MELA-AU 11 116745277 116745277 single base substitution G A upstream_gene_variant MELA-AU 11 116746490 116746490 single base substitution G A intron_variant MELA-AU 11 116746490 116746490 single base substitution G A upstream_gene_variant MELA-AU 11 116746741 116746741 single base substitution G A intron_variant MELA-AU 11 116746741 116746741 single base substitution G A upstream_gene_variant MELA-AU 11 116747234 116747234 single base substitution G A intron_variant MELA-AU 11 116747234 116747234 single base substitution G A upstream_gene_variant MELA-AU 11 116748256 116748256 single base substitution A G intron_variant MELA-AU 11 116748256 116748256 single base substitution A G upstream_gene_variant MELA-AU 11 116748641 116748641 single base substitution G A intron_variant MELA-AU 11 116748641 116748641 single base substitution G A upstream_gene_variant MELA-AU 11 116748972 116748972 single base substitution G A intron_variant MELA-AU 11 116748972 116748972 single base substitution G A upstream_gene_variant MELA-AU 11 116750921 116750921 single base substitution C T intron_variant MELA-AU 11 116750921 116750921 single base substitution C T upstream_gene_variant MELA-AU 11 116751389 116751389 single base substitution G A intron_variant MELA-AU 11 116752110 116752110 single base substitution G A intron_variant MELA-AU 11 116752242 116752242 single base substitution G A intron_variant MELA-AU 11 116753224 116753224 single base substitution A C intron_variant MELA-AU 11 116754760 116754760 single base substitution G A intron_variant MELA-AU 11 116755127 116755127 single base substitution G A intron_variant MELA-AU 11 116755404 116755404 single base substitution G A intron_variant MELA-AU 11 116755822 116755822 single base substitution G A intron_variant MELA-AU 11 116756107 116756107 single base substitution G A intron_variant MELA-AU 11 116756347 116756347 single base substitution C T intron_variant MELA-AU 11 116756425 116756425 single base substitution A G intron_variant MELA-AU 11 116756861 116756861 single base substitution G A intron_variant MELA-AU 11 116756862 116756862 single base substitution G A intron_variant MELA-AU 11 116758509 116758509 single base substitution G A intron_variant MELA-AU 11 116758535 116758535 single base substitution A T intron_variant MELA-AU 11 116758930 116758930 single base substitution G A intron_variant MELA-AU 11 116759714 116759714 single base substitution G A downstream_gene_variant MELA-AU 11 116759714 116759714 single base substitution G A intron_variant MELA-AU 11 116760304 116760304 single base substitution A C downstream_gene_variant MELA-AU 11 116760304 116760304 single base substitution A C intron_variant MELA-AU 11 116760431 116760431 single base substitution A T downstream_gene_variant MELA-AU 11 116760431 116760431 single base substitution A T intron_variant MELA-AU 11 116760968 116760968 single base substitution G A downstream_gene_variant MELA-AU 11 116760968 116760968 single base substitution G A intron_variant MELA-AU 11 116761092 116761092 single base substitution G A downstream_gene_variant MELA-AU 11 116761092 116761092 single base substitution G A intron_variant MELA-AU 11 116761269 116761269 single base substitution C T downstream_gene_variant MELA-AU 11 116761269 116761269 single base substitution C T intron_variant MELA-AU 11 116761400 116761400 single base substitution G A downstream_gene_variant MELA-AU 11 116761400 116761400 single base substitution G A intron_variant MELA-AU 11 116761528 116761528 single base substitution C A downstream_gene_variant MELA-AU 11 116761528 116761528 single base substitution C A intron_variant MELA-AU 11 116761610 116761610 single base substitution G A downstream_gene_variant MELA-AU 11 116761610 116761610 single base substitution G A intron_variant MELA-AU 11 116761809 116761809 single base substitution G A downstream_gene_variant MELA-AU 11 116761809 116761809 single base substitution G A intron_variant MELA-AU 11 116763580 116763580 single base substitution A C downstream_gene_variant MELA-AU 11 116763580 116763580 single base substitution A C intron_variant MELA-AU 11 116763772 116763772 single base substitution G A downstream_gene_variant MELA-AU 11 116763772 116763772 single base substitution G A intron_variant MELA-AU 11 116763975 116763975 single base substitution C T downstream_gene_variant MELA-AU 11 116763975 116763975 single base substitution C T intron_variant MELA-AU 11 116763980 116763980 single base substitution G A downstream_gene_variant MELA-AU 11 116763980 116763980 single base substitution G A intron_variant MELA-AU 11 116764172 116764172 single base substitution C T downstream_gene_variant MELA-AU 11 116764172 116764172 single base substitution C T intron_variant MELA-AU 11 116764707 116764707 single base substitution G A intron_variant MELA-AU 11 116764733 116764733 single base substitution G A intron_variant MELA-AU 11 116766330 116766330 single base substitution T A intron_variant MELA-AU 11 116767041 116767041 single base substitution C T 3_prime_UTR_variant MELA-AU 11 116767041 116767041 single base substitution C T 5_prime_UTR_variant MELA-AU 11 116767041 116767041 single base substitution C T exon_variant MELA-AU 11 116767041 116767041 single base substitution C T missense_variant G106R 316G>A MELA-AU 11 116767041 116767041 single base substitution C T missense_variant G167R 499G>A MELA-AU 11 116767041 116767041 single base substitution C T missense_variant G207R 619G>A MELA-AU 11 116767041 116767041 single base substitution C T missense_variant G258R 772G>A MELA-AU 11 116767041 116767041 single base substitution C T missense_variant G265R 793G>A MELA-AU 11 116768277 116768277 single base substitution T A intron_variant MELA-AU 11 116771120 116771129 deletion of <=200bp TCCTATTTCA - downstream_gene_variant MELA-AU 11 116771120 116771129 deletion of <=200bp TCCTATTTCA - intron_variant MELA-AU 11 116773375 116773375 single base substitution C T downstream_gene_variant MELA-AU 11 116773375 116773375 single base substitution C T intron_variant MELA-AU 11 116774167 116774167 single base substitution A G downstream_gene_variant MELA-AU 11 116774167 116774167 single base substitution A G intron_variant MELA-AU 11 116774692 116774692 single base substitution G T downstream_gene_variant MELA-AU 11 116774692 116774692 single base substitution G T intron_variant MELA-AU 11 116774694 116774694 single base substitution G A downstream_gene_variant MELA-AU 11 116774694 116774694 single base substitution G A intron_variant MELA-AU 11 116775017 116775017 single base substitution C A downstream_gene_variant MELA-AU 11 116775017 116775017 single base substitution C A intron_variant MELA-AU 11 116775201 116775201 single base substitution C T downstream_gene_variant MELA-AU 11 116775201 116775201 single base substitution C T intron_variant MELA-AU 11 116775638 116775638 single base substitution G A exon_variant MELA-AU 11 116775638 116775638 single base substitution G A intron_variant MELA-AU 11 116775728 116775728 single base substitution G A intron_variant MELA-AU 11 116776725 116776725 single base substitution G A intron_variant MELA-AU 11 116776794 116776794 single base substitution G A intron_variant MELA-AU 11 116777349 116777349 single base substitution G A intron_variant MELA-AU 11 116777405 116777405 single base substitution G A intron_variant MELA-AU 11 116778558 116778558 single base substitution A G intron_variant MELA-AU 11 116778615 116778615 single base substitution G A intron_variant MELA-AU 11 116778769 116778769 single base substitution A C intron_variant MELA-AU 11 116778904 116778904 single base substitution G A intron_variant MELA-AU 11 116779014 116779014 single base substitution G A intron_variant MELA-AU 11 116780071 116780071 single base substitution G A intron_variant MELA-AU 11 116780116 116780116 single base substitution G A intron_variant MELA-AU 11 116780352 116780353 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116781045 116781045 single base substitution A T intron_variant MELA-AU 11 116781577 116781577 single base substitution G A intron_variant MELA-AU 11 116782096 116782096 single base substitution G A intron_variant MELA-AU 11 116783581 116783581 single base substitution A T intron_variant MELA-AU 11 116783714 116783714 single base substitution C T intron_variant MELA-AU 11 116783819 116783819 single base substitution G A intron_variant MELA-AU 11 116784073 116784073 single base substitution A C intron_variant MELA-AU 11 116784598 116784598 single base substitution T C intron_variant MELA-AU 11 116784719 116784719 single base substitution A T intron_variant MELA-AU 11 116785840 116785840 single base substitution A G intron_variant MELA-AU 11 116786697 116786697 single base substitution G A intron_variant MELA-AU 11 116787709 116787709 single base substitution C T intron_variant MELA-AU 11 116787790 116787790 single base substitution C T intron_variant MELA-AU 11 116787805 116787805 single base substitution G A intron_variant MELA-AU 11 116788130 116788130 single base substitution A C intron_variant MELA-AU 11 116788537 116788537 single base substitution A G intron_variant MELA-AU 11 116788572 116788572 single base substitution G A intron_variant MELA-AU 11 116789057 116789057 single base substitution G A intron_variant MELA-AU 11 116791273 116791273 single base substitution G A intron_variant MELA-AU 11 116791815 116791815 single base substitution A G intron_variant MELA-AU 11 116792373 116792374 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 116792497 116792497 single base substitution G A intron_variant MELA-AU 11 116792945 116792945 single base substitution A T intron_variant MELA-AU 11 116792992 116792992 single base substitution G A intron_variant MELA-AU 11 116793102 116793102 single base substitution G A intron_variant MELA-AU 11 116793295 116793295 single base substitution G A intron_variant MELA-AU 11 116793392 116793392 single base substitution A T intron_variant MELA-AU 11 116793821 116793821 single base substitution C T intron_variant MELA-AU 11 116794807 116794807 single base substitution C T intron_variant MELA-AU 11 116795429 116795429 single base substitution G A intron_variant MELA-AU 11 116795892 116795892 single base substitution G A intron_variant MELA-AU 11 116796120 116796120 single base substitution A T intron_variant MELA-AU 11 116797474 116797474 single base substitution C A intron_variant MELA-AU 11 116798557 116798558 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116801586 116801586 single base substitution C A intron_variant MELA-AU 11 116801693 116801693 single base substitution G A intron_variant MELA-AU 11 116802091 116802091 single base substitution C G intron_variant MELA-AU 11 116802334 116802334 single base substitution G A intron_variant MELA-AU 11 116802376 116802376 single base substitution C T intron_variant MELA-AU 11 116802479 116802479 single base substitution C T intron_variant MELA-AU 11 116803276 116803276 single base substitution G A intron_variant MELA-AU 11 116803337 116803337 single base substitution A G intron_variant MELA-AU 11 116803489 116803489 single base substitution G A intron_variant MELA-AU 11 116804368 116804368 single base substitution C T intron_variant MELA-AU 11 116805982 116805982 single base substitution G A intron_variant MELA-AU 11 116806339 116806339 single base substitution G A intron_variant MELA-AU 11 116806881 116806881 single base substitution G A intron_variant MELA-AU 11 116807275 116807275 single base substitution G C intron_variant MELA-AU 11 116808199 116808199 single base substitution C G intron_variant MELA-AU 11 116808204 116808204 single base substitution C G intron_variant MELA-AU 11 116808680 116808681 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116809656 116809656 single base substitution A G intron_variant MELA-AU 11 116810399 116810399 single base substitution C T intron_variant MELA-AU 11 116810537 116810537 single base substitution T C intron_variant MELA-AU 11 116811277 116811277 single base substitution A T intron_variant MELA-AU 11 116811299 116811300 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116811374 116811374 single base substitution G A intron_variant MELA-AU 11 116811519 116811519 single base substitution G A intron_variant MELA-AU 11 116811761 116811761 single base substitution C T intron_variant MELA-AU 11 116811874 116811874 single base substitution C T intron_variant MELA-AU 11 116813831 116813831 single base substitution G A intron_variant MELA-AU 11 116813845 116813845 single base substitution G A intron_variant MELA-AU 11 116814038 116814038 single base substitution G A intron_variant MELA-AU 11 116814091 116814091 single base substitution C T intron_variant MELA-AU 11 116814465 116814465 single base substitution C T intron_variant MELA-AU 11 116814594 116814594 single base substitution T A intron_variant MELA-AU 11 116814948 116814948 single base substitution G A intron_variant MELA-AU 11 116816299 116816299 single base substitution A C intron_variant MELA-AU 11 116816569 116816570 deletion of <=200bp CT - intron_variant MELA-AU 11 116816988 116816989 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 116817301 116817301 single base substitution G A intron_variant MELA-AU 11 116817303 116817303 single base substitution G A intron_variant MELA-AU 11 116818192 116818192 single base substitution T C intron_variant MELA-AU 11 116818261 116818261 single base substitution A G intron_variant MELA-AU 11 116818269 116818269 single base substitution A G intron_variant MELA-AU 11 116818994 116818994 single base substitution T A intron_variant MELA-AU 11 116819263 116819263 single base substitution G A intron_variant MELA-AU 11 116819417 116819417 single base substitution G A intron_variant MELA-AU 11 116819747 116819747 single base substitution G A intron_variant MELA-AU 11 116820019 116820019 single base substitution C T intron_variant MELA-AU 11 116820476 116820476 single base substitution A G intron_variant MELA-AU 11 116820900 116820900 single base substitution T G 5_prime_UTR_variant MELA-AU 11 116820900 116820900 single base substitution T G exon_variant MELA-AU 11 116820900 116820900 single base substitution T G intron_variant MELA-AU 11 116822102 116822102 single base substitution C T intron_variant MELA-AU 11 116822146 116822146 single base substitution T C intron_variant MELA-AU 11 116823155 116823155 single base substitution T A intron_variant MELA-AU 11 116823616 116823617 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 11 116823873 116823873 single base substitution G A intron_variant MELA-AU 11 116823903 116823903 single base substitution A G intron_variant MELA-AU 11 116824796 116824796 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 116824796 116824796 single base substitution G A exon_variant MELA-AU 11 116824796 116824796 single base substitution G A synonymous_variant L133L 397C>T MELA-AU 11 116824796 116824796 single base substitution G A synonymous_variant L140L 418C>T MELA-AU 11 116824796 116824796 single base substitution G A synonymous_variant L42L 124C>T MELA-AU 11 116824796 116824796 single base substitution G A synonymous_variant L82L 244C>T MELA-AU 11 116825568 116825568 single base substitution G A intron_variant MELA-AU 11 116825682 116825682 single base substitution G A intron_variant MELA-AU 11 116826312 116826312 single base substitution G A intron_variant MELA-AU 11 116827145 116827145 single base substitution G A intron_variant MELA-AU 11 116827308 116827308 single base substitution A T intron_variant MELA-AU 11 116827723 116827723 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 116827723 116827723 single base substitution A C exon_variant MELA-AU 11 116827723 116827723 single base substitution A C missense_variant F104V 310T>G MELA-AU 11 116827723 116827723 single base substitution A C missense_variant F111V 331T>G MELA-AU 11 116827723 116827723 single base substitution A C missense_variant F13V 37T>G MELA-AU 11 116827723 116827723 single base substitution A C missense_variant F53V 157T>G MELA-AU 11 116827779 116827779 single base substitution A G exon_variant MELA-AU 11 116827779 116827779 single base substitution A G missense_variant V34A 101T>C MELA-AU 11 116827779 116827779 single base substitution A G missense_variant V85A 254T>C MELA-AU 11 116827779 116827779 single base substitution A G missense_variant V92A 275T>C MELA-AU 11 116827779 116827779 single base substitution A G splice_region_variant MELA-AU 11 116827779 116827779 single base substitution A G upstream_gene_variant MELA-AU 11 116827781 116827781 single base substitution C T splice_acceptor_variant MELA-AU 11 116827781 116827781 single base substitution C T upstream_gene_variant MELA-AU 11 116828892 116828892 single base substitution G A intron_variant MELA-AU 11 116828892 116828892 single base substitution G A upstream_gene_variant MELA-AU 11 116830793 116830793 single base substitution G A intron_variant MELA-AU 11 116830793 116830793 single base substitution G A upstream_gene_variant MELA-AU 11 116831825 116831825 single base substitution G A intron_variant MELA-AU 11 116831825 116831825 single base substitution G A upstream_gene_variant MELA-AU 11 116832991 116832991 single base substitution A T intron_variant MELA-AU 11 116833209 116833209 single base substitution C T intron_variant MELA-AU 11 116834246 116834246 single base substitution G A intron_variant MELA-AU 11 116834393 116834393 single base substitution G A intron_variant MELA-AU 11 116834524 116834524 single base substitution G A intron_variant MELA-AU 11 116835244 116835244 single base substitution G A intron_variant MELA-AU 11 116835827 116835827 single base substitution G A intron_variant MELA-AU 11 116836149 116836149 single base substitution A G intron_variant MELA-AU 11 116836645 116836645 single base substitution C T intron_variant MELA-AU 11 116837017 116837017 single base substitution G A intron_variant MELA-AU 11 116837338 116837338 single base substitution C T intron_variant MELA-AU 11 116837459 116837459 single base substitution G A intron_variant MELA-AU 11 116838059 116838059 single base substitution A G intron_variant MELA-AU 11 116838228 116838228 single base substitution C T intron_variant MELA-AU 11 116839955 116839955 single base substitution G A intron_variant MELA-AU 11 116840846 116840846 single base substitution G A intron_variant MELA-AU 11 116841053 116841053 single base substitution G A intron_variant MELA-AU 11 116842649 116842649 single base substitution G A intron_variant MELA-AU 11 116842933 116842933 single base substitution C T intron_variant MELA-AU 11 116845183 116845183 single base substitution G A intron_variant MELA-AU 11 116845206 116845206 single base substitution A G intron_variant MELA-AU 11 116846228 116846228 single base substitution G A intron_variant MELA-AU 11 116846385 116846385 single base substitution C G intron_variant MELA-AU 11 116847137 116847137 single base substitution G A intron_variant MELA-AU 11 116847469 116847469 single base substitution G A intron_variant MELA-AU 11 116847623 116847623 single base substitution C A intron_variant MELA-AU 11 116847826 116847826 single base substitution G A intron_variant MELA-AU 11 116847913 116847913 single base substitution G A intron_variant MELA-AU 11 116848752 116848752 single base substitution G A intron_variant MELA-AU 11 116849461 116849461 single base substitution G A intron_variant MELA-AU 11 116849770 116849770 single base substitution G A intron_variant MELA-AU 11 116850083 116850083 single base substitution G A intron_variant MELA-AU 11 116850484 116850484 single base substitution A G intron_variant MELA-AU 11 116850610 116850610 single base substitution G A intron_variant MELA-AU 11 116850812 116850812 single base substitution C T intron_variant MELA-AU 11 116850991 116850991 single base substitution G A intron_variant MELA-AU 11 116852106 116852106 single base substitution T C intron_variant MELA-AU 11 116852501 116852501 single base substitution G A intron_variant MELA-AU 11 116853768 116853768 single base substitution T A intron_variant MELA-AU 11 116854100 116854100 single base substitution G C intron_variant MELA-AU 11 116854524 116854524 single base substitution T C intron_variant MELA-AU 11 116855425 116855425 single base substitution C A intron_variant MELA-AU 11 116855824 116855824 single base substitution G A intron_variant MELA-AU 11 116856263 116856263 single base substitution T A intron_variant MELA-AU 11 116856954 116856954 single base substitution G A intron_variant MELA-AU 11 116857547 116857547 single base substitution C G intron_variant MELA-AU 11 116857966 116857966 single base substitution T C intron_variant MELA-AU 11 116858443 116858443 single base substitution G A intron_variant MELA-AU 11 116858894 116858894 single base substitution G A intron_variant MELA-AU 11 116859978 116859978 single base substitution C T intron_variant MELA-AU 11 116860691 116860691 single base substitution G A intron_variant MELA-AU 11 116860811 116860811 single base substitution T A intron_variant MELA-AU 11 116861939 116861939 single base substitution G A intron_variant MELA-AU 11 116862139 116862139 single base substitution G A intron_variant MELA-AU 11 116862708 116862708 single base substitution G A intron_variant MELA-AU 11 116863039 116863039 single base substitution C T intron_variant MELA-AU 11 116863262 116863262 single base substitution G A intron_variant MELA-AU 11 116865432 116865432 single base substitution G A intron_variant MELA-AU 11 116866637 116866637 single base substitution G A intron_variant MELA-AU 11 116867523 116867523 single base substitution G A intron_variant MELA-AU 11 116868482 116868482 single base substitution A C intron_variant MELA-AU 11 116868718 116868718 single base substitution G A intron_variant MELA-AU 11 116868914 116868914 single base substitution G A intron_variant MELA-AU 11 116869113 116869113 single base substitution G A intron_variant MELA-AU 11 116869416 116869416 single base substitution G A intron_variant MELA-AU 11 116869445 116869445 single base substitution G A intron_variant MELA-AU 11 116869531 116869531 single base substitution G A intron_variant MELA-AU 11 116871257 116871257 single base substitution C T intron_variant MELA-AU 11 116872618 116872618 single base substitution C T intron_variant MELA-AU 11 116874674 116874674 single base substitution C T intron_variant MELA-AU 11 116874703 116874703 single base substitution G A intron_variant MELA-AU 11 116874933 116874933 single base substitution G A intron_variant MELA-AU 11 116875546 116875546 single base substitution G A intron_variant MELA-AU 11 116875567 116875567 single base substitution G A intron_variant MELA-AU 11 116875824 116875824 single base substitution G A intron_variant MELA-AU 11 116875973 116875973 single base substitution A G intron_variant MELA-AU 11 116877496 116877496 single base substitution G A intron_variant MELA-AU 11 116878600 116878600 single base substitution G A intron_variant MELA-AU 11 116880106 116880106 single base substitution G A intron_variant MELA-AU 11 116880166 116880166 single base substitution C T intron_variant MELA-AU 11 116880680 116880680 single base substitution G A intron_variant MELA-AU 11 116880793 116880793 single base substitution G A intron_variant MELA-AU 11 116881134 116881134 single base substitution G A intron_variant MELA-AU 11 116881763 116881763 single base substitution G A intron_variant MELA-AU 11 116882099 116882099 single base substitution G A intron_variant MELA-AU 11 116883967 116883967 single base substitution G A intron_variant MELA-AU 11 116884259 116884259 single base substitution G A intron_variant MELA-AU 11 116885594 116885594 single base substitution A G intron_variant MELA-AU 11 116886451 116886451 single base substitution A G intron_variant MELA-AU 11 116886567 116886567 single base substitution G A intron_variant MELA-AU 11 116886629 116886629 single base substitution G A intron_variant MELA-AU 11 116886909 116886909 single base substitution G A intron_variant MELA-AU 11 116887615 116887615 single base substitution G A intron_variant MELA-AU 11 116889010 116889010 single base substitution T A intron_variant MELA-AU 11 116889268 116889268 single base substitution G A intron_variant MELA-AU 11 116890807 116890808 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116890966 116890966 single base substitution C T intron_variant MELA-AU 11 116891217 116891217 single base substitution G A intron_variant MELA-AU 11 116893262 116893262 single base substitution A C intron_variant MELA-AU 11 116893520 116893520 single base substitution T A intron_variant MELA-AU 11 116893535 116893535 single base substitution G A intron_variant MELA-AU 11 116893945 116893945 single base substitution G A intron_variant MELA-AU 11 116894335 116894335 single base substitution A T intron_variant MELA-AU 11 116894843 116894844 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 116895579 116895579 single base substitution C T intron_variant MELA-AU 11 116895841 116895841 single base substitution G A intron_variant MELA-AU 11 116897322 116897322 single base substitution C T intron_variant MELA-AU 11 116897603 116897603 single base substitution G A intron_variant MELA-AU 11 116897614 116897614 single base substitution G A intron_variant MELA-AU 11 116898227 116898227 single base substitution G A intron_variant MELA-AU 11 116898480 116898480 single base substitution G A intron_variant MELA-AU 11 116898633 116898633 single base substitution C G intron_variant MELA-AU 11 116898952 116898952 single base substitution C T intron_variant MELA-AU 11 116899258 116899258 single base substitution G A intron_variant MELA-AU 11 116899895 116899895 single base substitution G A intron_variant MELA-AU 11 116900693 116900693 single base substitution G A intron_variant MELA-AU 11 116900997 116900997 single base substitution G A intron_variant MELA-AU 11 116901788 116901788 single base substitution T A intron_variant MELA-AU 11 116902591 116902591 single base substitution G A intron_variant MELA-AU 11 116903504 116903504 single base substitution T A intron_variant MELA-AU 11 116904624 116904624 single base substitution G A intron_variant MELA-AU 11 116904633 116904633 single base substitution G A intron_variant MELA-AU 11 116905050 116905050 single base substitution G A intron_variant MELA-AU 11 116907194 116907194 single base substitution G A intron_variant MELA-AU 11 116907322 116907322 single base substitution G A intron_variant MELA-AU 11 116907625 116907625 single base substitution T C intron_variant MELA-AU 11 116907689 116907689 deletion of <=200bp A - intron_variant MELA-AU 11 116907799 116907799 single base substitution T A intron_variant MELA-AU 11 116908682 116908682 single base substitution C T intron_variant MELA-AU 11 116909228 116909228 single base substitution A C intron_variant MELA-AU 11 116909234 116909234 single base substitution G A intron_variant MELA-AU 11 116909425 116909425 single base substitution C A intron_variant MELA-AU 11 116909776 116909776 single base substitution G A intron_variant MELA-AU 11 116910088 116910088 single base substitution C T intron_variant MELA-AU 11 116911168 116911168 single base substitution C T intron_variant MELA-AU 11 116912094 116912094 single base substitution G A intron_variant MELA-AU 11 116912283 116912283 single base substitution G C intron_variant MELA-AU 11 116912353 116912353 single base substitution T C intron_variant MELA-AU 11 116912372 116912372 single base substitution A T intron_variant MELA-AU 11 116912585 116912585 single base substitution G A intron_variant MELA-AU 11 116912595 116912595 single base substitution G A intron_variant MELA-AU 11 116912750 116912750 single base substitution A T intron_variant MELA-AU 11 116912862 116912862 single base substitution G A intron_variant MELA-AU 11 116913373 116913373 single base substitution C T intron_variant MELA-AU 11 116913655 116913656 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 11 116913980 116913980 single base substitution G A intron_variant MELA-AU 11 116914287 116914287 single base substitution C T intron_variant MELA-AU 11 116915119 116915119 single base substitution T A intron_variant MELA-AU 11 116915334 116915334 single base substitution A G intron_variant MELA-AU 11 116915721 116915721 single base substitution G A intron_variant MELA-AU 11 116917141 116917141 single base substitution G A intron_variant MELA-AU 11 116917386 116917387 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116917742 116917742 single base substitution G A intron_variant MELA-AU 11 116917960 116917960 single base substitution C T intron_variant MELA-AU 11 116917982 116917982 single base substitution G A intron_variant MELA-AU 11 116918460 116918460 single base substitution A G intron_variant MELA-AU 11 116919490 116919490 single base substitution G A intron_variant MELA-AU 11 116920014 116920014 single base substitution C T intron_variant MELA-AU 11 116920329 116920329 single base substitution A G intron_variant MELA-AU 11 116921052 116921052 single base substitution G A intron_variant MELA-AU 11 116921330 116921330 single base substitution G A intron_variant MELA-AU 11 116922986 116922986 single base substitution T A intron_variant MELA-AU 11 116923183 116923183 single base substitution A C intron_variant MELA-AU 11 116923301 116923301 single base substitution A G intron_variant MELA-AU 11 116923365 116923365 single base substitution G A intron_variant MELA-AU 11 116924860 116924860 single base substitution G A intron_variant MELA-AU 11 116926441 116926441 single base substitution C G intron_variant MELA-AU 11 116926864 116926864 single base substitution G A intron_variant MELA-AU 11 116927559 116927559 single base substitution G A intron_variant MELA-AU 11 116927643 116927643 single base substitution G C intron_variant MELA-AU 11 116927913 116927913 single base substitution G A intron_variant MELA-AU 11 116927976 116927976 single base substitution G A intron_variant MELA-AU 11 116928003 116928003 single base substitution C T intron_variant MELA-AU 11 116928117 116928117 single base substitution G A intron_variant MELA-AU 11 116929079 116929079 single base substitution T A intron_variant MELA-AU 11 116929219 116929219 single base substitution G A intron_variant MELA-AU 11 116929697 116929697 single base substitution G A intron_variant MELA-AU 11 116931580 116931580 single base substitution G A intron_variant MELA-AU 11 116931754 116931754 single base substitution G A intron_variant MELA-AU 11 116932354 116932354 single base substitution G A intron_variant MELA-AU 11 116932500 116932500 single base substitution G A intron_variant MELA-AU 11 116933033 116933034 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116933084 116933085 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 11 116933196 116933196 single base substitution G A intron_variant MELA-AU 11 116934687 116934687 single base substitution G A intron_variant MELA-AU 11 116935254 116935254 single base substitution C T intron_variant MELA-AU 11 116935634 116935634 single base substitution G A intron_variant MELA-AU 11 116935943 116935943 single base substitution G A intron_variant MELA-AU 11 116936530 116936534 deletion of <=200bp GAGAC - intron_variant MELA-AU 11 116936679 116936679 single base substitution G A intron_variant MELA-AU 11 116937327 116937327 single base substitution C T intron_variant MELA-AU 11 116937705 116937705 single base substitution G A intron_variant MELA-AU 11 116938497 116938497 single base substitution G C intron_variant MELA-AU 11 116938598 116938598 single base substitution G A intron_variant MELA-AU 11 116938733 116938733 single base substitution A G intron_variant MELA-AU 11 116939101 116939101 single base substitution C T intron_variant MELA-AU 11 116939989 116939989 single base substitution C A intron_variant MELA-AU 11 116940998 116940998 single base substitution G A intron_variant MELA-AU 11 116941322 116941322 single base substitution G A intron_variant MELA-AU 11 116941382 116941382 single base substitution G A intron_variant MELA-AU 11 116942268 116942268 single base substitution G A intron_variant MELA-AU 11 116942557 116942557 single base substitution G A intron_variant MELA-AU 11 116942955 116942955 single base substitution T C intron_variant MELA-AU 11 116944468 116944468 single base substitution T A intron_variant MELA-AU 11 116945192 116945192 single base substitution G A intron_variant MELA-AU 11 116945570 116945570 single base substitution G A intron_variant MELA-AU 11 116946280 116946280 single base substitution G A intron_variant MELA-AU 11 116946818 116946818 single base substitution G A intron_variant MELA-AU 11 116947448 116947449 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116948325 116948325 single base substitution G A intron_variant MELA-AU 11 116948673 116948673 single base substitution G A intron_variant MELA-AU 11 116949266 116949266 single base substitution G A intron_variant MELA-AU 11 116949770 116949770 single base substitution C T intron_variant MELA-AU 11 116950922 116950922 single base substitution C T intron_variant MELA-AU 11 116951531 116951531 single base substitution G A intron_variant MELA-AU 11 116951961 116951961 single base substitution T G intron_variant MELA-AU 11 116951963 116951963 single base substitution T C intron_variant MELA-AU 11 116952266 116952266 single base substitution G A intron_variant MELA-AU 11 116952685 116952685 single base substitution G A intron_variant MELA-AU 11 116953722 116953722 single base substitution G A intron_variant MELA-AU 11 116954256 116954256 single base substitution G A intron_variant MELA-AU 11 116954716 116954716 single base substitution G A intron_variant MELA-AU 11 116954737 116954737 single base substitution A G intron_variant MELA-AU 11 116955606 116955606 single base substitution G A intron_variant MELA-AU 11 116956215 116956215 single base substitution A C intron_variant MELA-AU 11 116957427 116957427 single base substitution G A intron_variant MELA-AU 11 116959456 116959456 single base substitution G A intron_variant MELA-AU 11 116959682 116959682 single base substitution A G intron_variant MELA-AU 11 116959722 116959722 single base substitution A G intron_variant MELA-AU 11 116959989 116959990 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 116960112 116960112 single base substitution G A intron_variant MELA-AU 11 116960669 116960669 single base substitution G A intron_variant MELA-AU 11 116960735 116960735 single base substitution C T intron_variant MELA-AU 11 116960775 116960775 single base substitution G A intron_variant MELA-AU 11 116961168 116961168 single base substitution G A intron_variant MELA-AU 11 116961905 116961905 single base substitution G A intron_variant MELA-AU 11 116962001 116962001 single base substitution A G intron_variant MELA-AU 11 116962594 116962594 single base substitution G A intron_variant MELA-AU 11 116962626 116962626 single base substitution G A intron_variant MELA-AU 11 116963059 116963059 single base substitution G A intron_variant MELA-AU 11 116963177 116963177 single base substitution C G intron_variant MELA-AU 11 116963179 116963179 single base substitution C A intron_variant MELA-AU 11 116963233 116963233 single base substitution G A intron_variant MELA-AU 11 116963349 116963349 single base substitution A G intron_variant MELA-AU 11 116964080 116964080 single base substitution G A intron_variant MELA-AU 11 116964289 116964289 single base substitution C T intron_variant MELA-AU 11 116966170 116966170 single base substitution C T intron_variant MELA-AU 11 116966445 116966445 single base substitution C T intron_variant MELA-AU 11 116967618 116967618 single base substitution G A intron_variant MELA-AU 11 116968319 116968319 single base substitution C T intron_variant MELA-AU 11 116969224 116969224 single base substitution C T upstream_gene_variant MELA-AU 11 116969266 116969266 single base substitution G A upstream_gene_variant MELA-AU 11 116969513 116969513 single base substitution C T upstream_gene_variant MELA-AU 11 116970180 116970180 single base substitution C T upstream_gene_variant MELA-AU 11 116970777 116970777 single base substitution G A upstream_gene_variant MELA-AU 11 116971008 116971008 single base substitution G A upstream_gene_variant MELA-AU 11 116971014 116971014 single base substitution C T upstream_gene_variant MELA-AU 11 116971074 116971074 single base substitution C T upstream_gene_variant MELA-AU 11 116971159 116971159 single base substitution C T upstream_gene_variant MELA-AU 11 116971499 116971499 single base substitution C T upstream_gene_variant MELA-AU 11 116971550 116971550 single base substitution C T upstream_gene_variant MELA-AU 11 116973265 116973265 single base substitution G A upstream_gene_variant MELA-AU 11 116973925 116973925 single base substitution C T upstream_gene_variant ORCA-IN 11 116782016 116782016 single base substitution G C intron_variant ORCA-IN 11 116784593 116784593 single base substitution G A intron_variant ORCA-IN 11 116785876 116785876 single base substitution G A intron_variant ORCA-IN 11 116786553 116786553 single base substitution G A intron_variant ORCA-IN 11 116788543 116788543 insertion of <=200bp - AAGGAAAGGA intron_variant ORCA-IN 11 116825427 116825427 single base substitution A C intron_variant ORCA-IN 11 116835249 116835249 single base substitution G C intron_variant ORCA-IN 11 116942642 116942642 single base substitution G T intron_variant ORCA-IN 11 116950737 116950737 single base substitution G A intron_variant ORCA-IN 11 116955539 116955539 single base substitution C T intron_variant OV-AU 11 116711548 116711548 single base substitution G A downstream_gene_variant OV-AU 11 116711854 116711854 single base substitution T G downstream_gene_variant OV-AU 11 116712970 116712970 single base substitution G A downstream_gene_variant OV-AU 11 116715311 116715311 single base substitution T A 3_prime_UTR_variant OV-AU 11 116715311 116715311 single base substitution T A downstream_gene_variant OV-AU 11 116715311 116715311 single base substitution T A exon_variant OV-AU 11 116715313 116715313 single base substitution T A 3_prime_UTR_variant OV-AU 11 116715313 116715313 single base substitution T A downstream_gene_variant OV-AU 11 116715313 116715313 single base substitution T A exon_variant OV-AU 11 116719913 116719913 single base substitution G T 3_prime_UTR_variant OV-AU 11 116719913 116719913 single base substitution G T exon_variant OV-AU 11 116719913 116719913 single base substitution G T missense_variant R1082S 3244C>A OV-AU 11 116719913 116719913 single base substitution G T missense_variant R1140S 3418C>A OV-AU 11 116719913 116719913 single base substitution G T missense_variant R1142S 3424C>A OV-AU 11 116719913 116719913 single base substitution G T missense_variant R1200S 3598C>A OV-AU 11 116719913 116719913 single base substitution G T missense_variant R1241S 3721C>A OV-AU 11 116719913 116719913 single base substitution G T missense_variant R477S 1429C>A OV-AU 11 116719913 116719913 single base substitution G T missense_variant R981S 2941C>A OV-AU 11 116719913 116719913 single base substitution G T upstream_gene_variant OV-AU 11 116720704 116720704 single base substitution T G intron_variant OV-AU 11 116720704 116720704 single base substitution T G upstream_gene_variant OV-AU 11 116727130 116727130 single base substitution C G downstream_gene_variant OV-AU 11 116727130 116727130 single base substitution C G intron_variant OV-AU 11 116740690 116740690 single base substitution C T 3_prime_UTR_variant OV-AU 11 116740690 116740690 single base substitution C T downstream_gene_variant OV-AU 11 116740690 116740690 single base substitution C T intron_variant OV-AU 11 116740690 116740690 single base substitution C T upstream_gene_variant OV-AU 11 116741269 116741269 single base substitution C G downstream_gene_variant OV-AU 11 116741269 116741269 single base substitution C G intron_variant OV-AU 11 116741269 116741269 single base substitution C G upstream_gene_variant OV-AU 11 116743876 116743876 single base substitution G C downstream_gene_variant OV-AU 11 116743876 116743876 single base substitution G C intron_variant OV-AU 11 116743876 116743876 single base substitution G C upstream_gene_variant OV-AU 11 116752224 116752224 single base substitution G C intron_variant OV-AU 11 116754193 116754193 single base substitution A G intron_variant OV-AU 11 116755380 116755380 single base substitution G A intron_variant OV-AU 11 116760165 116760165 single base substitution C T downstream_gene_variant OV-AU 11 116760165 116760165 single base substitution C T intron_variant OV-AU 11 116762388 116762388 single base substitution G A downstream_gene_variant OV-AU 11 116762388 116762388 single base substitution G A intron_variant OV-AU 11 116774474 116774474 single base substitution A T downstream_gene_variant OV-AU 11 116774474 116774474 single base substitution A T intron_variant OV-AU 11 116776612 116776612 single base substitution C A intron_variant OV-AU 11 116776613 116776613 single base substitution C G intron_variant OV-AU 11 116783090 116783090 single base substitution G T intron_variant OV-AU 11 116793109 116793109 single base substitution A G intron_variant OV-AU 11 116793883 116793883 single base substitution T C intron_variant OV-AU 11 116794163 116794163 single base substitution T C intron_variant OV-AU 11 116800513 116800513 single base substitution G C intron_variant OV-AU 11 116801729 116801729 single base substitution A G intron_variant OV-AU 11 116801963 116801963 single base substitution C T intron_variant OV-AU 11 116802736 116802736 single base substitution C T intron_variant OV-AU 11 116803309 116803309 single base substitution T A intron_variant OV-AU 11 116821505 116821505 single base substitution C G intron_variant OV-AU 11 116826070 116826070 single base substitution T C intron_variant OV-AU 11 116828211 116828211 single base substitution G T intron_variant OV-AU 11 116828211 116828211 single base substitution G T upstream_gene_variant OV-AU 11 116829886 116829886 single base substitution A G intron_variant OV-AU 11 116829886 116829886 single base substitution A G upstream_gene_variant OV-AU 11 116839726 116839726 single base substitution G A intron_variant OV-AU 11 116839992 116839992 single base substitution C T intron_variant OV-AU 11 116849487 116849487 single base substitution G A intron_variant OV-AU 11 116850737 116850737 single base substitution T G intron_variant OV-AU 11 116850800 116850800 single base substitution G A intron_variant OV-AU 11 116851716 116851716 single base substitution C A intron_variant OV-AU 11 116852076 116852076 single base substitution C A intron_variant OV-AU 11 116865474 116865474 single base substitution G T intron_variant OV-AU 11 116872112 116872112 single base substitution C T intron_variant OV-AU 11 116873701 116873701 single base substitution T C intron_variant OV-AU 11 116875424 116875424 single base substitution A G intron_variant OV-AU 11 116879847 116879847 single base substitution G A intron_variant OV-AU 11 116884324 116884324 single base substitution A C intron_variant OV-AU 11 116888391 116888391 single base substitution C A intron_variant OV-AU 11 116889887 116889887 single base substitution C T intron_variant OV-AU 11 116890363 116890363 single base substitution G C intron_variant OV-AU 11 116896815 116896815 single base substitution C T intron_variant OV-AU 11 116897892 116897892 single base substitution C A intron_variant OV-AU 11 116900478 116900478 single base substitution T A intron_variant OV-AU 11 116908360 116908360 single base substitution T A intron_variant OV-AU 11 116911943 116911943 single base substitution G A intron_variant OV-AU 11 116915781 116915781 single base substitution G T intron_variant OV-AU 11 116918005 116918005 single base substitution C T intron_variant OV-AU 11 116921374 116921374 single base substitution G C intron_variant OV-AU 11 116923300 116923300 single base substitution G C intron_variant OV-AU 11 116923746 116923746 single base substitution G C intron_variant OV-AU 11 116924797 116924797 single base substitution T C intron_variant OV-AU 11 116930187 116930187 single base substitution C T intron_variant OV-AU 11 116932679 116932679 single base substitution G C intron_variant OV-AU 11 116938255 116938255 single base substitution A C intron_variant OV-AU 11 116941021 116941021 single base substitution A C intron_variant OV-AU 11 116943731 116943731 single base substitution G C intron_variant OV-AU 11 116946256 116946256 single base substitution T A intron_variant OV-AU 11 116960591 116960591 single base substitution A G intron_variant OV-AU 11 116966037 116966037 single base substitution T C intron_variant OV-AU 11 116969327 116969327 single base substitution A C upstream_gene_variant OV-US 11 116732096 116732096 single base substitution T G 3_prime_UTR_variant OV-US 11 116732096 116732096 single base substitution T G exon_variant OV-US 11 116732096 116732096 single base substitution T G intron_variant OV-US 11 116732096 116732096 single base substitution T G missense_variant L566F 1698A>C OV-US 11 116732096 116732096 single base substitution T G missense_variant L667F 2001A>C OV-US 11 116732096 116732096 single base substitution T G missense_variant L725F 2175A>C OV-US 11 116732096 116732096 single base substitution T G missense_variant L766F 2298A>C PACA-AU 11 116710598 116710598 single base substitution G A downstream_gene_variant PACA-AU 11 116713579 116713581 deletion of <=200bp CCC - downstream_gene_variant PACA-AU 11 116715311 116715311 single base substitution T A 3_prime_UTR_variant PACA-AU 11 116715311 116715311 single base substitution T A downstream_gene_variant PACA-AU 11 116715311 116715311 single base substitution T A exon_variant PACA-AU 11 116715313 116715313 single base substitution T A 3_prime_UTR_variant PACA-AU 11 116715313 116715313 single base substitution T A downstream_gene_variant PACA-AU 11 116715313 116715313 single base substitution T A exon_variant PACA-AU 11 116716810 116716810 single base substitution G A intron_variant PACA-AU 11 116718874 116718874 single base substitution C T intron_variant PACA-AU 11 116721600 116721600 single base substitution C A intron_variant PACA-AU 11 116721600 116721600 single base substitution C A upstream_gene_variant PACA-AU 11 116721944 116721944 single base substitution T C intron_variant PACA-AU 11 116721944 116721944 single base substitution T C upstream_gene_variant PACA-AU 11 116722459 116722459 single base substitution C T intron_variant PACA-AU 11 116722459 116722459 single base substitution C T upstream_gene_variant PACA-AU 11 116733738 116733738 single base substitution T C downstream_gene_variant PACA-AU 11 116733738 116733738 single base substitution T C intron_variant PACA-AU 11 116733738 116733738 single base substitution T C upstream_gene_variant PACA-AU 11 116744972 116744972 single base substitution C T intron_variant PACA-AU 11 116744972 116744972 single base substitution C T upstream_gene_variant PACA-AU 11 116745283 116745283 insertion of <=200bp - G intron_variant PACA-AU 11 116745283 116745283 insertion of <=200bp - G upstream_gene_variant PACA-AU 11 116748841 116748841 single base substitution C T intron_variant PACA-AU 11 116748841 116748841 single base substitution C T upstream_gene_variant PACA-AU 11 116762388 116762388 single base substitution G A downstream_gene_variant PACA-AU 11 116762388 116762388 single base substitution G A intron_variant PACA-AU 11 116762390 116762390 single base substitution A G downstream_gene_variant PACA-AU 11 116762390 116762390 single base substitution A G intron_variant PACA-AU 11 116766043 116766043 single base substitution C T intron_variant PACA-AU 11 116767067 116767067 single base substitution A T 3_prime_UTR_variant PACA-AU 11 116767067 116767067 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 11 116767067 116767067 single base substitution A T exon_variant PACA-AU 11 116767067 116767067 single base substitution A T missense_variant L158H 473T>A PACA-AU 11 116767067 116767067 single base substitution A T missense_variant L198H 593T>A PACA-AU 11 116767067 116767067 single base substitution A T missense_variant L249H 746T>A PACA-AU 11 116767067 116767067 single base substitution A T missense_variant L256H 767T>A PACA-AU 11 116767067 116767067 single base substitution A T missense_variant L97H 290T>A PACA-AU 11 116771586 116771586 single base substitution T A downstream_gene_variant PACA-AU 11 116771586 116771586 single base substitution T A intron_variant PACA-AU 11 116771589 116771589 single base substitution T A downstream_gene_variant PACA-AU 11 116771589 116771589 single base substitution T A intron_variant PACA-AU 11 116784138 116784138 deletion of <=200bp A - intron_variant PACA-AU 11 116787270 116787270 single base substitution A T intron_variant PACA-AU 11 116787712 116787712 single base substitution C G intron_variant PACA-AU 11 116790458 116790458 deletion of <=200bp T - intron_variant PACA-AU 11 116807481 116807481 single base substitution A T intron_variant PACA-AU 11 116808104 116808104 single base substitution C T intron_variant PACA-AU 11 116809665 116809665 insertion of <=200bp - T intron_variant PACA-AU 11 116810675 116810675 single base substitution G T intron_variant PACA-AU 11 116811747 116811747 single base substitution G T intron_variant PACA-AU 11 116812712 116812712 single base substitution G A intron_variant PACA-AU 11 116815507 116815507 single base substitution C A intron_variant PACA-AU 11 116817931 116817931 single base substitution C T intron_variant PACA-AU 11 116821036 116821036 single base substitution C A intron_variant PACA-AU 11 116832001 116832001 single base substitution G T intron_variant PACA-AU 11 116832001 116832001 single base substitution G T upstream_gene_variant PACA-AU 11 116839096 116839096 single base substitution G A intron_variant PACA-AU 11 116854101 116854101 single base substitution C A intron_variant PACA-AU 11 116855501 116855501 single base substitution C T intron_variant PACA-AU 11 116861901 116861901 single base substitution T C intron_variant PACA-AU 11 116867950 116867950 single base substitution C T intron_variant PACA-AU 11 116869744 116869744 single base substitution C T intron_variant PACA-AU 11 116878653 116878653 single base substitution A G intron_variant PACA-AU 11 116884614 116884627 deletion of <=200bp GAGGGGGGGGGGGG - intron_variant PACA-AU 11 116889431 116889431 single base substitution T A intron_variant PACA-AU 11 116890852 116890852 single base substitution G A intron_variant PACA-AU 11 116902212 116902212 insertion of <=200bp - ATTTT intron_variant PACA-AU 11 116921015 116921015 single base substitution C A intron_variant PACA-AU 11 116931079 116931079 single base substitution G A intron_variant PACA-AU 11 116937571 116937571 single base substitution G T intron_variant PACA-AU 11 116941074 116941074 single base substitution A G intron_variant PACA-AU 11 116950344 116950344 single base substitution T C intron_variant PACA-AU 11 116955931 116955931 single base substitution C G intron_variant PACA-AU 11 116958386 116958386 single base substitution A T intron_variant PACA-AU 11 116959390 116959390 single base substitution T C intron_variant PACA-AU 11 116959860 116959860 single base substitution G A intron_variant PACA-AU 11 116960137 116960137 single base substitution A T intron_variant PACA-AU 11 116961060 116961060 single base substitution C T intron_variant PACA-AU 11 116962632 116962632 single base substitution G A intron_variant PACA-AU 11 116974074 116974074 single base substitution C T upstream_gene_variant PACA-CA 11 116716961 116716961 single base substitution A T intron_variant PACA-CA 11 116719651 116719651 single base substitution C A intron_variant PACA-CA 11 116723621 116723621 single base substitution C G downstream_gene_variant PACA-CA 11 116723621 116723621 single base substitution C G intron_variant PACA-CA 11 116723621 116723621 single base substitution C G upstream_gene_variant PACA-CA 11 116729039 116729039 single base substitution G A 3_prime_UTR_variant PACA-CA 11 116729039 116729039 single base substitution G A exon_variant PACA-CA 11 116729039 116729039 single base substitution G A stop_gained Q1000* 2998C>T PACA-CA 11 116729039 116729039 single base substitution G A stop_gained Q1041* 3121C>T PACA-CA 11 116729039 116729039 single base substitution G A stop_gained Q277* 829C>T PACA-CA 11 116729039 116729039 single base substitution G A stop_gained Q781* 2341C>T PACA-CA 11 116729039 116729039 single base substitution G A stop_gained Q882* 2644C>T PACA-CA 11 116729039 116729039 single base substitution G A stop_gained Q940* 2818C>T PACA-CA 11 116729039 116729039 single base substitution G A stop_gained Q942* 2824C>T PACA-CA 11 116732071 116732071 single base substitution G T 3_prime_UTR_variant PACA-CA 11 116732071 116732071 single base substitution G T exon_variant PACA-CA 11 116732071 116732071 single base substitution G T intron_variant PACA-CA 11 116732071 116732071 single base substitution G T missense_variant P575T 1723C>A PACA-CA 11 116732071 116732071 single base substitution G T missense_variant P676T 2026C>A PACA-CA 11 116732071 116732071 single base substitution G T missense_variant P734T 2200C>A PACA-CA 11 116732071 116732071 single base substitution G T missense_variant P775T 2323C>A PACA-CA 11 116735340 116735340 single base substitution C A downstream_gene_variant PACA-CA 11 116735340 116735340 single base substitution C A exon_variant PACA-CA 11 116735340 116735340 single base substitution C A intron_variant PACA-CA 11 116735340 116735340 single base substitution C A upstream_gene_variant PACA-CA 11 116744973 116744973 single base substitution G A intron_variant PACA-CA 11 116744973 116744973 single base substitution G A upstream_gene_variant PACA-CA 11 116748458 116748458 single base substitution A G intron_variant PACA-CA 11 116748458 116748458 single base substitution A G upstream_gene_variant PACA-CA 11 116763055 116763055 single base substitution A G downstream_gene_variant PACA-CA 11 116763055 116763055 single base substitution A G intron_variant PACA-CA 11 116764400 116764400 single base substitution A G downstream_gene_variant PACA-CA 11 116764400 116764400 single base substitution A G intron_variant PACA-CA 11 116766523 116766523 single base substitution C A intron_variant PACA-CA 11 116770371 116770371 single base substitution C T intron_variant PACA-CA 11 116774474 116774474 single base substitution A T downstream_gene_variant PACA-CA 11 116774474 116774474 single base substitution A T intron_variant PACA-CA 11 116775713 116775713 single base substitution T A exon_variant PACA-CA 11 116775713 116775713 single base substitution T A intron_variant PACA-CA 11 116775714 116775714 single base substitution T G exon_variant PACA-CA 11 116775714 116775714 single base substitution T G intron_variant PACA-CA 11 116776109 116776109 single base substitution T A intron_variant PACA-CA 11 116779242 116779242 insertion of <=200bp - A intron_variant PACA-CA 11 116779676 116779676 single base substitution G A intron_variant PACA-CA 11 116781545 116781545 deletion of <=200bp C - intron_variant PACA-CA 11 116782850 116782850 single base substitution T C intron_variant PACA-CA 11 116785840 116785840 insertion of <=200bp - TATG intron_variant PACA-CA 11 116785926 116785926 single base substitution G C intron_variant PACA-CA 11 116786785 116786785 single base substitution A G intron_variant PACA-CA 11 116787597 116787597 single base substitution G C intron_variant PACA-CA 11 116789619 116789619 single base substitution G A intron_variant PACA-CA 11 116793561 116793561 single base substitution T C intron_variant PACA-CA 11 116795776 116795776 single base substitution C T intron_variant PACA-CA 11 116805521 116805521 single base substitution C T intron_variant PACA-CA 11 116817884 116817886 deletion of <=200bp ATT - intron_variant PACA-CA 11 116820689 116820689 single base substitution C T intron_variant PACA-CA 11 116821525 116821525 single base substitution C T intron_variant PACA-CA 11 116827544 116827544 single base substitution G A intron_variant PACA-CA 11 116827720 116827720 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 11 116827720 116827720 single base substitution G A exon_variant PACA-CA 11 116827720 116827720 single base substitution G A missense_variant R105W 313C>T PACA-CA 11 116827720 116827720 single base substitution G A missense_variant R112W 334C>T PACA-CA 11 116827720 116827720 single base substitution G A missense_variant R14W 40C>T PACA-CA 11 116827720 116827720 single base substitution G A missense_variant R54W 160C>T PACA-CA 11 116827772 116827772 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 11 116827772 116827772 single base substitution G C exon_variant PACA-CA 11 116827772 116827772 single base substitution G C missense_variant I36M 108C>G PACA-CA 11 116827772 116827772 single base substitution G C missense_variant I87M 261C>G PACA-CA 11 116827772 116827772 single base substitution G C missense_variant I94M 282C>G PACA-CA 11 116827772 116827772 single base substitution G C upstream_gene_variant PACA-CA 11 116832508 116832508 single base substitution A C intron_variant PACA-CA 11 116832508 116832508 single base substitution A C upstream_gene_variant PACA-CA 11 116832871 116832871 single base substitution G A intron_variant PACA-CA 11 116835313 116835313 single base substitution C A intron_variant PACA-CA 11 116836224 116836224 single base substitution G C intron_variant PACA-CA 11 116839923 116839923 single base substitution G A intron_variant PACA-CA 11 116844263 116844263 single base substitution T C intron_variant PACA-CA 11 116846226 116846226 single base substitution A C intron_variant PACA-CA 11 116848186 116848186 insertion of <=200bp - A intron_variant PACA-CA 11 116848482 116848482 single base substitution C T intron_variant PACA-CA 11 116857810 116857810 single base substitution G C intron_variant PACA-CA 11 116858687 116858687 single base substitution C T intron_variant PACA-CA 11 116864493 116864493 insertion of <=200bp - T intron_variant PACA-CA 11 116866934 116866934 single base substitution G A intron_variant PACA-CA 11 116870421 116870421 single base substitution G A intron_variant PACA-CA 11 116871818 116871818 single base substitution T C intron_variant PACA-CA 11 116872409 116872409 single base substitution C T intron_variant PACA-CA 11 116881941 116881941 single base substitution C T intron_variant PACA-CA 11 116893494 116893494 single base substitution T C intron_variant PACA-CA 11 116894403 116894403 deletion of <=200bp T - intron_variant PACA-CA 11 116896384 116896384 single base substitution G T intron_variant PACA-CA 11 116897853 116897854 deletion of <=200bp AA - intron_variant PACA-CA 11 116905360 116905360 single base substitution G A intron_variant PACA-CA 11 116906499 116906499 single base substitution G C intron_variant PACA-CA 11 116919468 116919468 single base substitution A C intron_variant PACA-CA 11 116920334 116920334 deletion of <=200bp A - intron_variant PACA-CA 11 116920541 116920541 single base substitution C T intron_variant PACA-CA 11 116921173 116921173 single base substitution G A intron_variant PACA-CA 11 116921782 116921782 single base substitution C A intron_variant PACA-CA 11 116922817 116922817 single base substitution A G intron_variant PACA-CA 11 116923006 116923006 single base substitution C A intron_variant PACA-CA 11 116924127 116924127 single base substitution T C intron_variant PACA-CA 11 116932128 116932128 single base substitution C G intron_variant PACA-CA 11 116935489 116935489 single base substitution C A intron_variant PACA-CA 11 116938272 116938272 single base substitution C G intron_variant PACA-CA 11 116939709 116939709 single base substitution C T intron_variant PACA-CA 11 116941212 116941212 single base substitution G C intron_variant PACA-CA 11 116944672 116944672 single base substitution C T intron_variant PACA-CA 11 116946827 116946827 single base substitution A T intron_variant PACA-CA 11 116950399 116950399 insertion of <=200bp - A intron_variant PACA-CA 11 116958827 116958827 single base substitution C A intron_variant PACA-CA 11 116961588 116961588 single base substitution G A intron_variant PACA-CA 11 116964207 116964207 single base substitution T A intron_variant PACA-CA 11 116967777 116967777 single base substitution G T intron_variant PACA-CA 11 116970711 116970711 single base substitution C A upstream_gene_variant PAEN-AU 11 116709128 116709128 single base substitution T C downstream_gene_variant PAEN-AU 11 116720792 116720792 single base substitution C T intron_variant PAEN-AU 11 116720792 116720792 single base substitution C T upstream_gene_variant PAEN-AU 11 116738615 116738615 single base substitution T A downstream_gene_variant PAEN-AU 11 116738615 116738615 single base substitution T A exon_variant PAEN-AU 11 116738615 116738615 single base substitution T A intron_variant PAEN-AU 11 116738615 116738615 single base substitution T A upstream_gene_variant PAEN-AU 11 116750567 116750567 single base substitution A T intron_variant PAEN-AU 11 116750567 116750567 single base substitution A T upstream_gene_variant PAEN-AU 11 116753209 116753209 single base substitution G T intron_variant PAEN-AU 11 116810638 116810638 single base substitution T C intron_variant PAEN-AU 11 116829123 116829123 single base substitution A G intron_variant PAEN-AU 11 116829123 116829123 single base substitution A G upstream_gene_variant PAEN-AU 11 116839126 116839126 single base substitution G A intron_variant PAEN-AU 11 116844764 116844764 single base substitution T C intron_variant PAEN-AU 11 116868550 116868550 single base substitution C T intron_variant PAEN-IT 11 116790138 116790138 single base substitution T A intron_variant PAEN-IT 11 116858751 116858751 single base substitution C A intron_variant PAEN-IT 11 116963676 116963676 single base substitution T C intron_variant PBCA-DE 11 116719942 116719942 single base substitution G A 3_prime_UTR_variant PBCA-DE 11 116719942 116719942 single base substitution G A exon_variant PBCA-DE 11 116719942 116719942 single base substitution G A missense_variant P1072L 3215C>T PBCA-DE 11 116719942 116719942 single base substitution G A missense_variant P1130L 3389C>T PBCA-DE 11 116719942 116719942 single base substitution G A missense_variant P1132L 3395C>T PBCA-DE 11 116719942 116719942 single base substitution G A missense_variant P1190L 3569C>T PBCA-DE 11 116719942 116719942 single base substitution G A missense_variant P1231L 3692C>T PBCA-DE 11 116719942 116719942 single base substitution G A missense_variant P467L 1400C>T PBCA-DE 11 116719942 116719942 single base substitution G A missense_variant P971L 2912C>T PBCA-DE 11 116719942 116719942 single base substitution G A upstream_gene_variant PBCA-DE 11 116724949 116724949 single base substitution G A downstream_gene_variant PBCA-DE 11 116724949 116724949 single base substitution G A intron_variant PBCA-DE 11 116731375 116731375 single base substitution A C intron_variant PBCA-DE 11 116736036 116736036 single base substitution C T downstream_gene_variant PBCA-DE 11 116736036 116736036 single base substitution C T intron_variant PBCA-DE 11 116736036 116736036 single base substitution C T upstream_gene_variant PBCA-DE 11 116738921 116738921 single base substitution G A downstream_gene_variant PBCA-DE 11 116738921 116738921 single base substitution G A intron_variant PBCA-DE 11 116738921 116738921 single base substitution G A upstream_gene_variant PBCA-DE 11 116752173 116752173 single base substitution G C intron_variant PBCA-DE 11 116755092 116755092 single base substitution C A intron_variant PBCA-DE 11 116777502 116777502 single base substitution G T intron_variant PBCA-DE 11 116782687 116782687 single base substitution G A intron_variant PBCA-DE 11 116786279 116786279 insertion of <=200bp - ATAG intron_variant PBCA-DE 11 116790455 116790455 single base substitution C G intron_variant PBCA-DE 11 116802945 116802945 single base substitution A T intron_variant PBCA-DE 11 116808107 116808110 deletion of <=200bp AAAC - intron_variant PBCA-DE 11 116813284 116813284 single base substitution G T intron_variant PBCA-DE 11 116817884 116817886 deletion of <=200bp ATT - intron_variant PBCA-DE 11 116836651 116836651 insertion of <=200bp - A intron_variant PBCA-DE 11 116836905 116836905 single base substitution C T intron_variant PBCA-DE 11 116849389 116849389 insertion of <=200bp - T intron_variant PBCA-DE 11 116854767 116854772 deletion of <=200bp AAAAAA - intron_variant PBCA-DE 11 116868882 116868882 single base substitution A T intron_variant PBCA-DE 11 116872794 116872794 single base substitution T C intron_variant PBCA-DE 11 116887285 116887285 single base substitution A C intron_variant PBCA-DE 11 116888245 116888245 deletion of <=200bp G - intron_variant PBCA-DE 11 116890490 116890490 single base substitution C T intron_variant PBCA-DE 11 116890965 116890965 insertion of <=200bp - AT intron_variant PBCA-DE 11 116907535 116907535 single base substitution C A intron_variant PBCA-DE 11 116913748 116913748 single base substitution C T intron_variant PBCA-DE 11 116915819 116915819 single base substitution C T intron_variant PBCA-DE 11 116922886 116922887 deletion of <=200bp TC - intron_variant PBCA-DE 11 116948428 116948428 insertion of <=200bp - A intron_variant PBCA-DE 11 116957557 116957557 insertion of <=200bp - A intron_variant PBCA-DE 11 116973332 116973332 single base substitution C T upstream_gene_variant PRAD-CA 11 116710573 116710573 single base substitution G A downstream_gene_variant PRAD-CA 11 116741190 116741190 single base substitution C G downstream_gene_variant PRAD-CA 11 116741190 116741190 single base substitution C G intron_variant PRAD-CA 11 116741190 116741190 single base substitution C G upstream_gene_variant PRAD-CA 11 116745969 116745969 single base substitution C T 3_prime_UTR_variant PRAD-CA 11 116745969 116745969 single base substitution C T 5_prime_UTR_variant PRAD-CA 11 116745969 116745969 single base substitution C T exon_variant PRAD-CA 11 116745969 116745969 single base substitution C T synonymous_variant L285L 855G>A PRAD-CA 11 116745969 116745969 single base substitution C T synonymous_variant L338L 1014G>A PRAD-CA 11 116745969 116745969 single base substitution C T synonymous_variant L346L 1038G>A PRAD-CA 11 116745969 116745969 single base substitution C T synonymous_variant L386L 1158G>A PRAD-CA 11 116745969 116745969 single base substitution C T synonymous_variant L396L 1188G>A PRAD-CA 11 116745969 116745969 single base substitution C T synonymous_variant L437L 1311G>A PRAD-CA 11 116745969 116745969 single base substitution C T synonymous_variant L444L 1332G>A PRAD-CA 11 116745969 116745969 single base substitution C T upstream_gene_variant PRAD-CA 11 116771585 116771585 single base substitution T A downstream_gene_variant PRAD-CA 11 116771585 116771585 single base substitution T A intron_variant PRAD-CA 11 116785878 116785878 single base substitution A G intron_variant PRAD-CA 11 116826315 116826315 single base substitution A C intron_variant PRAD-CA 11 116829709 116829709 single base substitution A C intron_variant PRAD-CA 11 116829709 116829709 single base substitution A C upstream_gene_variant PRAD-CA 11 116832723 116832723 single base substitution T C intron_variant PRAD-CA 11 116832723 116832723 single base substitution T C upstream_gene_variant PRAD-CA 11 116839657 116839657 single base substitution A G intron_variant PRAD-CA 11 116867100 116867100 single base substitution G T intron_variant PRAD-CA 11 116894339 116894339 single base substitution T A intron_variant PRAD-CA 11 116915440 116915440 single base substitution T C intron_variant PRAD-CA 11 116923194 116923194 single base substitution C A intron_variant PRAD-CA 11 116930591 116930591 single base substitution C T intron_variant PRAD-CA 11 116941173 116941173 single base substitution C T intron_variant PRAD-UK 11 116727940 116727940 single base substitution T C exon_variant PRAD-UK 11 116727940 116727940 single base substitution T C intron_variant PRAD-UK 11 116732918 116732918 single base substitution T G missense_variant K69T 206A>C PRAD-UK 11 116732918 116732918 single base substitution T G missense_variant Q536H 1608A>C PRAD-UK 11 116732918 116732918 single base substitution T G missense_variant Q637H 1911A>C PRAD-UK 11 116732918 116732918 single base substitution T G missense_variant Q695H 2085A>C PRAD-UK 11 116732918 116732918 single base substitution T G missense_variant Q736H 2208A>C PRAD-UK 11 116732918 116732918 single base substitution T G splice_region_variant PRAD-UK 11 116732918 116732918 single base substitution T G upstream_gene_variant PRAD-UK 11 116745863 116745863 single base substitution C T intron_variant PRAD-UK 11 116745863 116745863 single base substitution C T upstream_gene_variant PRAD-UK 11 116747448 116747448 deletion of <=200bp C - intron_variant PRAD-UK 11 116747448 116747448 deletion of <=200bp C - upstream_gene_variant PRAD-UK 11 116750451 116750451 single base substitution A C intron_variant PRAD-UK 11 116750451 116750451 single base substitution A C upstream_gene_variant PRAD-UK 11 116755712 116755712 single base substitution A G intron_variant PRAD-UK 11 116785568 116785568 single base substitution T G intron_variant PRAD-UK 11 116790515 116790519 deletion of <=200bp AACAT - intron_variant PRAD-UK 11 116803417 116803417 single base substitution C A intron_variant PRAD-UK 11 116816631 116816631 single base substitution T G intron_variant PRAD-UK 11 116821421 116821421 single base substitution G C intron_variant PRAD-UK 11 116823753 116823753 single base substitution A T intron_variant PRAD-UK 11 116839475 116839475 single base substitution T C intron_variant PRAD-UK 11 116843057 116843057 single base substitution T A intron_variant PRAD-UK 11 116845132 116845132 single base substitution T C intron_variant PRAD-UK 11 116847846 116847846 single base substitution G A intron_variant PRAD-UK 11 116867404 116867404 single base substitution C T intron_variant PRAD-UK 11 116875932 116875932 single base substitution G A intron_variant PRAD-UK 11 116876851 116876851 single base substitution C T intron_variant PRAD-UK 11 116878429 116878429 single base substitution T C intron_variant PRAD-UK 11 116901840 116901840 single base substitution G T intron_variant PRAD-UK 11 116902740 116902740 single base substitution T C intron_variant PRAD-UK 11 116926335 116926335 single base substitution A C intron_variant PRAD-UK 11 116937971 116937971 single base substitution G T intron_variant PRAD-UK 11 116948644 116948644 deletion of <=200bp A - intron_variant PRAD-US 11 116718256 116718256 single base substitution C T 3_prime_UTR_variant PRAD-US 11 116718256 116718256 single base substitution C T exon_variant PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S1029S 3087G>A PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S1130S 3390G>A PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S1188S 3564G>A PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S1190S 3570G>A PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S1248S 3744G>A PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S1289S 3867G>A PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S29S 87G>A PRAD-US 11 116718256 116718256 single base substitution C T synonymous_variant S525S 1575G>A PRAD-US 11 116729075 116729075 single base substitution G A 3_prime_UTR_variant PRAD-US 11 116729075 116729075 single base substitution G A exon_variant PRAD-US 11 116729075 116729075 single base substitution G A missense_variant P1029S 3085C>T PRAD-US 11 116729075 116729075 single base substitution G A missense_variant P265S 793C>T PRAD-US 11 116729075 116729075 single base substitution G A missense_variant P769S 2305C>T PRAD-US 11 116729075 116729075 single base substitution G A missense_variant P870S 2608C>T PRAD-US 11 116729075 116729075 single base substitution G A missense_variant P928S 2782C>T PRAD-US 11 116729075 116729075 single base substitution G A missense_variant P930S 2788C>T PRAD-US 11 116729075 116729075 single base substitution G A missense_variant P988S 2962C>T PRAD-US 11 116729309 116729309 single base substitution T C exon_variant PRAD-US 11 116729309 116729309 single base substitution T C intron_variant PRAD-US 11 116729309 116729309 single base substitution T C missense_variant T852A 2554A>G PRAD-US 11 116729309 116729309 single base substitution T C missense_variant T910A 2728A>G PRAD-US 11 116729309 116729309 single base substitution T C missense_variant T951A 2851A>G PRAD-US 11 116729350 116729350 single base substitution G A exon_variant PRAD-US 11 116729350 116729350 single base substitution G A intron_variant PRAD-US 11 116729350 116729350 single base substitution G A missense_variant S838L 2513C>T PRAD-US 11 116729350 116729350 single base substitution G A missense_variant S896L 2687C>T PRAD-US 11 116729350 116729350 single base substitution G A missense_variant S937L 2810C>T PRAD-US 11 116767026 116767026 single base substitution T C 3_prime_UTR_variant PRAD-US 11 116767026 116767026 single base substitution T C 5_prime_UTR_variant PRAD-US 11 116767026 116767026 single base substitution T C exon_variant PRAD-US 11 116767026 116767026 single base substitution T C missense_variant N111D 331A>G PRAD-US 11 116767026 116767026 single base substitution T C missense_variant N172D 514A>G PRAD-US 11 116767026 116767026 single base substitution T C missense_variant N212D 634A>G PRAD-US 11 116767026 116767026 single base substitution T C missense_variant N263D 787A>G PRAD-US 11 116767026 116767026 single base substitution T C missense_variant N270D 808A>G READ-US 11 116729001 116729001 single base substitution C A 3_prime_UTR_variant READ-US 11 116729001 116729001 single base substitution C A exon_variant READ-US 11 116729001 116729001 single base substitution C A missense_variant Q1012H 3036G>T READ-US 11 116729001 116729001 single base substitution C A missense_variant Q1053H 3159G>T READ-US 11 116729001 116729001 single base substitution C A missense_variant Q289H 867G>T READ-US 11 116729001 116729001 single base substitution C A missense_variant Q793H 2379G>T READ-US 11 116729001 116729001 single base substitution C A missense_variant Q894H 2682G>T READ-US 11 116729001 116729001 single base substitution C A missense_variant Q952H 2856G>T READ-US 11 116729001 116729001 single base substitution C A missense_variant Q954H 2862G>T RECA-EU 11 116720575 116720575 single base substitution T A intron_variant RECA-EU 11 116720575 116720575 single base substitution T A upstream_gene_variant RECA-EU 11 116730165 116730165 single base substitution C G 3_prime_UTR_variant RECA-EU 11 116730165 116730165 single base substitution C G exon_variant RECA-EU 11 116730165 116730165 single base substitution C G missense_variant E150Q 448G>C RECA-EU 11 116730165 116730165 single base substitution C G missense_variant E654Q 1960G>C RECA-EU 11 116730165 116730165 single base substitution C G missense_variant E755Q 2263G>C RECA-EU 11 116730165 116730165 single base substitution C G missense_variant E813Q 2437G>C RECA-EU 11 116730165 116730165 single base substitution C G missense_variant E854Q 2560G>C RECA-EU 11 116730769 116730769 single base substitution T A intron_variant RECA-EU 11 116733136 116733136 single base substitution G A intron_variant RECA-EU 11 116733136 116733136 single base substitution G A upstream_gene_variant RECA-EU 11 116743183 116743183 single base substitution G A downstream_gene_variant RECA-EU 11 116743183 116743183 single base substitution G A intron_variant RECA-EU 11 116743183 116743183 single base substitution G A upstream_gene_variant RECA-EU 11 116756223 116756223 single base substitution C G intron_variant RECA-EU 11 116764368 116764368 single base substitution C G downstream_gene_variant RECA-EU 11 116764368 116764368 single base substitution C G intron_variant RECA-EU 11 116764656 116764656 single base substitution A T exon_variant RECA-EU 11 116764656 116764656 single base substitution A T intron_variant RECA-EU 11 116781481 116781481 single base substitution T G intron_variant RECA-EU 11 116796073 116796073 single base substitution G A intron_variant RECA-EU 11 116797807 116797807 single base substitution T A intron_variant RECA-EU 11 116820931 116820931 single base substitution G A 5_prime_UTR_variant RECA-EU 11 116820931 116820931 single base substitution G A exon_variant RECA-EU 11 116820931 116820931 single base substitution G A intron_variant RECA-EU 11 116825731 116825731 single base substitution A G intron_variant RECA-EU 11 116829768 116829768 single base substitution A T intron_variant RECA-EU 11 116829768 116829768 single base substitution A T upstream_gene_variant RECA-EU 11 116837720 116837720 single base substitution A C intron_variant RECA-EU 11 116842108 116842108 single base substitution C A intron_variant RECA-EU 11 116843053 116843053 single base substitution G T intron_variant RECA-EU 11 116849457 116849457 single base substitution C T intron_variant RECA-EU 11 116863487 116863487 single base substitution C A intron_variant RECA-EU 11 116871449 116871449 single base substitution T G intron_variant RECA-EU 11 116874839 116874839 single base substitution G A intron_variant RECA-EU 11 116879521 116879521 single base substitution T A intron_variant RECA-EU 11 116890514 116890514 single base substitution A T intron_variant RECA-EU 11 116891619 116891619 single base substitution A G intron_variant RECA-EU 11 116893737 116893737 single base substitution G A intron_variant RECA-EU 11 116897426 116897426 single base substitution C G intron_variant RECA-EU 11 116900368 116900368 single base substitution T C intron_variant RECA-EU 11 116906817 116906817 single base substitution T A intron_variant RECA-EU 11 116907311 116907311 single base substitution T G intron_variant RECA-EU 11 116912349 116912349 single base substitution T G intron_variant RECA-EU 11 116912743 116912743 single base substitution C G intron_variant RECA-EU 11 116915568 116915568 single base substitution C A intron_variant RECA-EU 11 116931857 116931857 single base substitution G T intron_variant RECA-EU 11 116934238 116934238 single base substitution A C intron_variant RECA-EU 11 116945025 116945025 single base substitution T A intron_variant RECA-EU 11 116971855 116971855 single base substitution G C upstream_gene_variant SKCA-BR 11 116709917 116709917 single base substitution T G downstream_gene_variant SKCA-BR 11 116713863 116713863 single base substitution G A downstream_gene_variant SKCA-BR 11 116715311 116715311 single base substitution T A 3_prime_UTR_variant SKCA-BR 11 116715311 116715311 single base substitution T A downstream_gene_variant SKCA-BR 11 116715311 116715311 single base substitution T A exon_variant SKCA-BR 11 116715313 116715313 single base substitution T A 3_prime_UTR_variant SKCA-BR 11 116715313 116715313 single base substitution T A downstream_gene_variant SKCA-BR 11 116715313 116715313 single base substitution T A exon_variant SKCA-BR 11 116715947 116715947 single base substitution A G 3_prime_UTR_variant SKCA-BR 11 116715947 116715947 single base substitution A G downstream_gene_variant SKCA-BR 11 116715947 116715947 single base substitution A G exon_variant SKCA-BR 11 116718366 116718366 single base substitution C G intron_variant SKCA-BR 11 116718802 116718802 single base substitution T G intron_variant SKCA-BR 11 116718924 116718924 insertion of <=200bp - ATT intron_variant SKCA-BR 11 116718925 116718925 single base substitution G A intron_variant SKCA-BR 11 116721474 116721474 single base substitution C A intron_variant SKCA-BR 11 116721474 116721474 single base substitution C A upstream_gene_variant SKCA-BR 11 116722171 116722171 single base substitution A G intron_variant SKCA-BR 11 116722171 116722171 single base substitution A G upstream_gene_variant SKCA-BR 11 116722212 116722212 single base substitution G A intron_variant SKCA-BR 11 116722212 116722212 single base substitution G A upstream_gene_variant SKCA-BR 11 116727168 116727168 single base substitution G A downstream_gene_variant SKCA-BR 11 116727168 116727168 single base substitution G A intron_variant SKCA-BR 11 116728076 116728076 single base substitution G A exon_variant SKCA-BR 11 116728076 116728076 single base substitution G A intron_variant SKCA-BR 11 116730833 116730833 single base substitution C T intron_variant SKCA-BR 11 116736266 116736266 single base substitution G A downstream_gene_variant SKCA-BR 11 116736266 116736266 single base substitution G A intron_variant SKCA-BR 11 116736266 116736266 single base substitution G A upstream_gene_variant SKCA-BR 11 116740630 116740630 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 116740630 116740630 single base substitution G A downstream_gene_variant SKCA-BR 11 116740630 116740630 single base substitution G A intron_variant SKCA-BR 11 116740630 116740630 single base substitution G A upstream_gene_variant SKCA-BR 11 116742379 116742379 single base substitution C G downstream_gene_variant SKCA-BR 11 116742379 116742379 single base substitution C G intron_variant SKCA-BR 11 116742379 116742379 single base substitution C G upstream_gene_variant SKCA-BR 11 116744400 116744400 single base substitution C G downstream_gene_variant SKCA-BR 11 116744400 116744400 single base substitution C G intron_variant SKCA-BR 11 116744400 116744400 single base substitution C G upstream_gene_variant SKCA-BR 11 116745678 116745678 single base substitution G A intron_variant SKCA-BR 11 116745678 116745678 single base substitution G A upstream_gene_variant SKCA-BR 11 116748000 116748000 single base substitution G A intron_variant SKCA-BR 11 116748000 116748000 single base substitution G A upstream_gene_variant SKCA-BR 11 116751789 116751789 single base substitution G A intron_variant SKCA-BR 11 116755066 116755066 insertion of <=200bp - CT intron_variant SKCA-BR 11 116757961 116757963 deletion of <=200bp TAA - intron_variant SKCA-BR 11 116762583 116762583 single base substitution C G downstream_gene_variant SKCA-BR 11 116762583 116762583 single base substitution C G intron_variant SKCA-BR 11 116764338 116764338 single base substitution G A downstream_gene_variant SKCA-BR 11 116764338 116764338 single base substitution G A intron_variant SKCA-BR 11 116770516 116770516 single base substitution C A downstream_gene_variant SKCA-BR 11 116770516 116770516 single base substitution C A intron_variant SKCA-BR 11 116772095 116772095 single base substitution G A downstream_gene_variant SKCA-BR 11 116772095 116772095 single base substitution G A intron_variant SKCA-BR 11 116776040 116776040 single base substitution G A intron_variant SKCA-BR 11 116777887 116777887 single base substitution G A intron_variant SKCA-BR 11 116778924 116778924 single base substitution G A intron_variant SKCA-BR 11 116780152 116780152 single base substitution G A intron_variant SKCA-BR 11 116781889 116781889 single base substitution G A intron_variant SKCA-BR 11 116783369 116783369 single base substitution G A intron_variant SKCA-BR 11 116784922 116784922 insertion of <=200bp - AT intron_variant SKCA-BR 11 116785840 116785840 insertion of <=200bp - ATGTGTGTGTGTGTGTGTG intron_variant SKCA-BR 11 116785919 116785919 single base substitution T G intron_variant SKCA-BR 11 116787360 116787360 single base substitution G A intron_variant SKCA-BR 11 116788532 116788535 deletion of <=200bp GGAA - intron_variant SKCA-BR 11 116788956 116788956 single base substitution C T intron_variant SKCA-BR 11 116789459 116789459 single base substitution A C intron_variant SKCA-BR 11 116789906 116789916 deletion of <=200bp ACTCAAAAATC - intron_variant SKCA-BR 11 116791055 116791055 single base substitution G A intron_variant SKCA-BR 11 116791910 116791910 single base substitution T G intron_variant SKCA-BR 11 116795262 116795262 single base substitution C T intron_variant SKCA-BR 11 116805322 116805322 single base substitution G A intron_variant SKCA-BR 11 116807184 116807184 single base substitution A C intron_variant SKCA-BR 11 116807343 116807343 single base substitution G A intron_variant SKCA-BR 11 116807631 116807661 deletion of <=200bp CCATCCCCAGCTGAACTTTGGAATTCAAGGT - intron_variant SKCA-BR 11 116808658 116808658 single base substitution C T intron_variant SKCA-BR 11 116809338 116809343 deletion of <=200bp GGAGGA - intron_variant SKCA-BR 11 116812124 116812125 deletion of <=200bp TA - intron_variant SKCA-BR 11 116815681 116815681 insertion of <=200bp - CTT intron_variant SKCA-BR 11 116816127 116816129 deletion of <=200bp CAG - intron_variant SKCA-BR 11 116816630 116816630 single base substitution C G intron_variant SKCA-BR 11 116817012 116817012 single base substitution A C intron_variant SKCA-BR 11 116817900 116817900 single base substitution A T intron_variant SKCA-BR 11 116818234 116818238 deletion of <=200bp AATAT - intron_variant SKCA-BR 11 116818247 116818247 insertion of <=200bp - ATATG intron_variant SKCA-BR 11 116818282 116818283 deletion of <=200bp TG - intron_variant SKCA-BR 11 116818285 116818285 insertion of <=200bp - ATGTATGTATTT intron_variant SKCA-BR 11 116818285 116818285 single base substitution A T intron_variant SKCA-BR 11 116820071 116820071 single base substitution T A intron_variant SKCA-BR 11 116822335 116822335 single base substitution G A intron_variant SKCA-BR 11 116823672 116823672 single base substitution T C intron_variant SKCA-BR 11 116824494 116824494 single base substitution G A intron_variant SKCA-BR 11 116826075 116826075 single base substitution C T intron_variant SKCA-BR 11 116826097 116826097 single base substitution G A intron_variant SKCA-BR 11 116829314 116829314 single base substitution G A intron_variant SKCA-BR 11 116829314 116829314 single base substitution G A upstream_gene_variant SKCA-BR 11 116829571 116829571 single base substitution A C intron_variant SKCA-BR 11 116829571 116829571 single base substitution A C upstream_gene_variant SKCA-BR 11 116830272 116830272 single base substitution G C intron_variant SKCA-BR 11 116830272 116830272 single base substitution G C upstream_gene_variant SKCA-BR 11 116831409 116831409 single base substitution T A intron_variant SKCA-BR 11 116831409 116831409 single base substitution T A upstream_gene_variant SKCA-BR 11 116834716 116834716 single base substitution G A intron_variant SKCA-BR 11 116836088 116836088 insertion of <=200bp - AT intron_variant SKCA-BR 11 116836450 116836474 deletion of <=200bp AATATATATATATATATATATATAT - intron_variant SKCA-BR 11 116837754 116837754 single base substitution G A intron_variant SKCA-BR 11 116840005 116840006 deletion of <=200bp CA - intron_variant SKCA-BR 11 116840258 116840287 deletion of <=200bp TAGATCAAGTTGGCATTTTTTGAAACTAAG - intron_variant SKCA-BR 11 116843209 116843209 single base substitution A G intron_variant SKCA-BR 11 116851504 116851504 single base substitution G A intron_variant SKCA-BR 11 116852929 116852929 single base substitution C T intron_variant SKCA-BR 11 116853686 116853686 single base substitution T A intron_variant SKCA-BR 11 116855422 116855422 insertion of <=200bp - CACACA intron_variant SKCA-BR 11 116861889 116861889 single base substitution C T intron_variant SKCA-BR 11 116862144 116862144 single base substitution T C intron_variant SKCA-BR 11 116862618 116862618 single base substitution T G intron_variant SKCA-BR 11 116862623 116862623 single base substitution C T intron_variant SKCA-BR 11 116863766 116863766 single base substitution C T intron_variant SKCA-BR 11 116863981 116863981 single base substitution A T intron_variant SKCA-BR 11 116869855 116869855 single base substitution T G intron_variant SKCA-BR 11 116870080 116870080 single base substitution C T intron_variant SKCA-BR 11 116873120 116873129 deletion of <=200bp TTAAGGGACA - intron_variant SKCA-BR 11 116874229 116874229 single base substitution G T intron_variant SKCA-BR 11 116876080 116876080 single base substitution T A intron_variant SKCA-BR 11 116877747 116877747 single base substitution C T intron_variant SKCA-BR 11 116878042 116878042 single base substitution G A intron_variant SKCA-BR 11 116878791 116878792 deletion of <=200bp CA - intron_variant SKCA-BR 11 116881875 116881875 single base substitution G A intron_variant SKCA-BR 11 116884182 116884182 single base substitution G A intron_variant SKCA-BR 11 116887687 116887687 single base substitution T C intron_variant SKCA-BR 11 116889273 116889273 single base substitution G A intron_variant SKCA-BR 11 116894297 116894301 deletion of <=200bp AAAAC - intron_variant SKCA-BR 11 116894325 116894325 single base substitution C A intron_variant SKCA-BR 11 116894338 116894341 deletion of <=200bp ATAT - intron_variant SKCA-BR 11 116894339 116894339 single base substitution T A intron_variant SKCA-BR 11 116895670 116895670 single base substitution G A intron_variant SKCA-BR 11 116898153 116898153 single base substitution C T intron_variant SKCA-BR 11 116898154 116898154 single base substitution T C intron_variant SKCA-BR 11 116901093 116901093 single base substitution T C intron_variant SKCA-BR 11 116903147 116903147 single base substitution G A intron_variant SKCA-BR 11 116907856 116907856 single base substitution C T intron_variant SKCA-BR 11 116913202 116913202 single base substitution C T intron_variant SKCA-BR 11 116919101 116919101 single base substitution G A intron_variant SKCA-BR 11 116924197 116924197 single base substitution C T intron_variant SKCA-BR 11 116927112 116927112 single base substitution G A intron_variant SKCA-BR 11 116927200 116927201 deletion of <=200bp CT - intron_variant SKCA-BR 11 116937268 116937268 single base substitution G A intron_variant SKCA-BR 11 116941491 116941491 single base substitution G A intron_variant SKCA-BR 11 116943544 116943544 single base substitution C T intron_variant SKCA-BR 11 116949130 116949130 insertion of <=200bp - CT intron_variant SKCA-BR 11 116949130 116949130 insertion of <=200bp - CTT intron_variant SKCA-BR 11 116954756 116954756 single base substitution C T intron_variant SKCA-BR 11 116957710 116957710 insertion of <=200bp - CA intron_variant SKCA-BR 11 116958051 116958051 single base substitution A C intron_variant SKCA-BR 11 116959104 116959104 single base substitution G A intron_variant SKCA-BR 11 116960122 116960122 insertion of <=200bp - CA intron_variant SKCA-BR 11 116961914 116961916 deletion of <=200bp TTC - intron_variant SKCA-BR 11 116962573 116962573 single base substitution A C intron_variant SKCA-BR 11 116962604 116962604 single base substitution T C intron_variant SKCA-BR 11 116963528 116963528 single base substitution G A intron_variant SKCA-BR 11 116964208 116964208 single base substitution C T intron_variant SKCA-BR 11 116964941 116964941 single base substitution A C intron_variant SKCA-BR 11 116965645 116965645 single base substitution G A intron_variant SKCA-BR 11 116971132 116971132 single base substitution C T upstream_gene_variant SKCA-BR 11 116971355 116971355 single base substitution G A upstream_gene_variant SKCM-US 11 116719905 116719905 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116719905 116719905 single base substitution G A exon_variant SKCM-US 11 116719905 116719905 single base substitution G A synonymous_variant S1084S 3252C>T SKCM-US 11 116719905 116719905 single base substitution G A synonymous_variant S1142S 3426C>T SKCM-US 11 116719905 116719905 single base substitution G A synonymous_variant S1144S 3432C>T SKCM-US 11 116719905 116719905 single base substitution G A synonymous_variant S1202S 3606C>T SKCM-US 11 116719905 116719905 single base substitution G A synonymous_variant S1243S 3729C>T SKCM-US 11 116719905 116719905 single base substitution G A synonymous_variant S479S 1437C>T SKCM-US 11 116719905 116719905 single base substitution G A synonymous_variant S983S 2949C>T SKCM-US 11 116719905 116719905 single base substitution G A upstream_gene_variant SKCM-US 11 116719919 116719919 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116719919 116719919 single base substitution G A exon_variant SKCM-US 11 116719919 116719919 single base substitution G A missense_variant P1080S 3238C>T SKCM-US 11 116719919 116719919 single base substitution G A missense_variant P1138S 3412C>T SKCM-US 11 116719919 116719919 single base substitution G A missense_variant P1140S 3418C>T SKCM-US 11 116719919 116719919 single base substitution G A missense_variant P1198S 3592C>T SKCM-US 11 116719919 116719919 single base substitution G A missense_variant P1239S 3715C>T SKCM-US 11 116719919 116719919 single base substitution G A missense_variant P475S 1423C>T SKCM-US 11 116719919 116719919 single base substitution G A missense_variant P979S 2935C>T SKCM-US 11 116719919 116719919 single base substitution G A upstream_gene_variant SKCM-US 11 116728595 116728595 single base substitution C A 3_prime_UTR_variant SKCM-US 11 116728595 116728595 single base substitution C A exon_variant SKCM-US 11 116728595 116728595 single base substitution C A stop_gained E1030* 3088G>T SKCM-US 11 116728595 116728595 single base substitution C A stop_gained E1088* 3262G>T SKCM-US 11 116728595 116728595 single base substitution C A stop_gained E1090* 3268G>T SKCM-US 11 116728595 116728595 single base substitution C A stop_gained E1148* 3442G>T SKCM-US 11 116728595 116728595 single base substitution C A stop_gained E1189* 3565G>T SKCM-US 11 116728595 116728595 single base substitution C A stop_gained E425* 1273G>T SKCM-US 11 116728595 116728595 single base substitution C A stop_gained E929* 2785G>T SKCM-US 11 116729104 116729104 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116729104 116729104 single base substitution G A exon_variant SKCM-US 11 116729104 116729104 single base substitution G A missense_variant S1019L 3056C>T SKCM-US 11 116729104 116729104 single base substitution G A missense_variant S255L 764C>T SKCM-US 11 116729104 116729104 single base substitution G A missense_variant S759L 2276C>T SKCM-US 11 116729104 116729104 single base substitution G A missense_variant S860L 2579C>T SKCM-US 11 116729104 116729104 single base substitution G A missense_variant S918L 2753C>T SKCM-US 11 116729104 116729104 single base substitution G A missense_variant S920L 2759C>T SKCM-US 11 116729104 116729104 single base substitution G A missense_variant S978L 2933C>T SKCM-US 11 116729133 116729133 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116729133 116729133 single base substitution G A exon_variant SKCM-US 11 116729133 116729133 single base substitution G A synonymous_variant I1009I 3027C>T SKCM-US 11 116729133 116729133 single base substitution G A synonymous_variant I245I 735C>T SKCM-US 11 116729133 116729133 single base substitution G A synonymous_variant I749I 2247C>T SKCM-US 11 116729133 116729133 single base substitution G A synonymous_variant I850I 2550C>T SKCM-US 11 116729133 116729133 single base substitution G A synonymous_variant I908I 2724C>T SKCM-US 11 116729133 116729133 single base substitution G A synonymous_variant I910I 2730C>T SKCM-US 11 116729133 116729133 single base substitution G A synonymous_variant I968I 2904C>T SKCM-US 11 116729203 116729203 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116729203 116729203 single base substitution G A exon_variant SKCM-US 11 116729203 116729203 single base substitution G A missense_variant S222L 665C>T SKCM-US 11 116729203 116729203 single base substitution G A missense_variant S726L 2177C>T SKCM-US 11 116729203 116729203 single base substitution G A missense_variant S827L 2480C>T SKCM-US 11 116729203 116729203 single base substitution G A missense_variant S885L 2654C>T SKCM-US 11 116729203 116729203 single base substitution G A missense_variant S887L 2660C>T SKCM-US 11 116729203 116729203 single base substitution G A missense_variant S945L 2834C>T SKCM-US 11 116729203 116729203 single base substitution G A missense_variant S986L 2957C>T SKCM-US 11 116729253 116729253 single base substitution G A exon_variant SKCM-US 11 116729253 116729253 single base substitution G A intron_variant SKCM-US 11 116729253 116729253 single base substitution G A synonymous_variant F870F 2610C>T SKCM-US 11 116729253 116729253 single base substitution G A synonymous_variant F928F 2784C>T SKCM-US 11 116729253 116729253 single base substitution G A synonymous_variant F969F 2907C>T SKCM-US 11 116729357 116729357 single base substitution G A exon_variant SKCM-US 11 116729357 116729357 single base substitution G A intron_variant SKCM-US 11 116729357 116729357 single base substitution G A synonymous_variant L836L 2506C>T SKCM-US 11 116729357 116729357 single base substitution G A synonymous_variant L894L 2680C>T SKCM-US 11 116729357 116729357 single base substitution G A synonymous_variant L935L 2803C>T SKCM-US 11 116729393 116729393 single base substitution G A exon_variant SKCM-US 11 116729393 116729393 single base substitution G A intron_variant SKCM-US 11 116729393 116729393 single base substitution G A missense_variant P824S 2470C>T SKCM-US 11 116729393 116729393 single base substitution G A missense_variant P882S 2644C>T SKCM-US 11 116729393 116729393 single base substitution G A missense_variant P923S 2767C>T SKCM-US 11 116730317 116730317 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116730317 116730317 single base substitution G A exon_variant SKCM-US 11 116730317 116730317 single base substitution G A missense_variant A603V 1808C>T SKCM-US 11 116730317 116730317 single base substitution G A missense_variant A704V 2111C>T SKCM-US 11 116730317 116730317 single base substitution G A missense_variant A762V 2285C>T SKCM-US 11 116730317 116730317 single base substitution G A missense_variant A803V 2408C>T SKCM-US 11 116730317 116730317 single base substitution G A missense_variant A99V 296C>T SKCM-US 11 116732000 116732000 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116732000 116732000 single base substitution G A exon_variant SKCM-US 11 116732000 116732000 single base substitution G A intron_variant SKCM-US 11 116732000 116732000 single base substitution G A synonymous_variant I598I 1794C>T SKCM-US 11 116732000 116732000 single base substitution G A synonymous_variant I699I 2097C>T SKCM-US 11 116732000 116732000 single base substitution G A synonymous_variant I757I 2271C>T SKCM-US 11 116732000 116732000 single base substitution G A synonymous_variant I798I 2394C>T SKCM-US 11 116732561 116732561 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116732561 116732561 single base substitution G A exon_variant SKCM-US 11 116732561 116732561 single base substitution G A stop_gained Q564* 1690C>T SKCM-US 11 116732561 116732561 single base substitution G A stop_gained Q665* 1993C>T SKCM-US 11 116732561 116732561 single base substitution G A stop_gained Q723* 2167C>T SKCM-US 11 116732561 116732561 single base substitution G A stop_gained Q764* 2290C>T SKCM-US 11 116732561 116732561 single base substitution G A synonymous_variant S96S 288C>T SKCM-US 11 116732561 116732561 single base substitution G A upstream_gene_variant SKCM-US 11 116744293 116744293 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116744293 116744293 single base substitution G A 5_prime_UTR_variant SKCM-US 11 116744293 116744293 single base substitution G A downstream_gene_variant SKCM-US 11 116744293 116744293 single base substitution G A exon_variant SKCM-US 11 116744293 116744293 single base substitution G A synonymous_variant G388G 1164C>T SKCM-US 11 116744293 116744293 single base substitution G A synonymous_variant G441G 1323C>T SKCM-US 11 116744293 116744293 single base substitution G A synonymous_variant G449G 1347C>T SKCM-US 11 116744293 116744293 single base substitution G A synonymous_variant G489G 1467C>T SKCM-US 11 116744293 116744293 single base substitution G A synonymous_variant G499G 1497C>T SKCM-US 11 116744293 116744293 single base substitution G A synonymous_variant G540G 1620C>T SKCM-US 11 116744293 116744293 single base substitution G A synonymous_variant G547G 1641C>T SKCM-US 11 116744293 116744293 single base substitution G A upstream_gene_variant SKCM-US 11 116744716 116744716 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116744716 116744716 single base substitution G A 5_prime_UTR_variant SKCM-US 11 116744716 116744716 single base substitution G A downstream_gene_variant SKCM-US 11 116744716 116744716 single base substitution G A missense_variant P336L 1007C>T SKCM-US 11 116744716 116744716 single base substitution G A missense_variant P389L 1166C>T SKCM-US 11 116744716 116744716 single base substitution G A missense_variant P397L 1190C>T SKCM-US 11 116744716 116744716 single base substitution G A missense_variant P437L 1310C>T SKCM-US 11 116744716 116744716 single base substitution G A missense_variant P447L 1340C>T SKCM-US 11 116744716 116744716 single base substitution G A missense_variant P488L 1463C>T SKCM-US 11 116744716 116744716 single base substitution G A missense_variant P495L 1484C>T SKCM-US 11 116744716 116744716 single base substitution G A upstream_gene_variant SKCM-US 11 116746668 116746668 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116746668 116746668 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 11 116746668 116746668 single base substitution G A intron_variant SKCM-US 11 116746668 116746668 single base substitution G A stop_gained R226* 676C>T SKCM-US 11 116746668 116746668 single base substitution G A stop_gained R287* 859C>T SKCM-US 11 116746668 116746668 single base substitution G A stop_gained R327* 979C>T SKCM-US 11 116746668 116746668 single base substitution G A stop_gained R378* 1132C>T SKCM-US 11 116746668 116746668 single base substitution G A stop_gained R385* 1153C>T SKCM-US 11 116746668 116746668 single base substitution G A upstream_gene_variant SKCM-US 11 116747031 116747031 single base substitution G A 3_prime_UTR_variant SKCM-US 11 116747031 116747031 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 11 116747031 116747031 single base substitution G A synonymous_variant L186L 556C>T SKCM-US 11 116747031 116747031 single base substitution G A synonymous_variant L247L 739C>T SKCM-US 11 116747031 116747031 single base substitution G A synonymous_variant L287L 859C>T SKCM-US 11 116747031 116747031 single base substitution G A synonymous_variant L338L 1012C>T SKCM-US 11 116747031 116747031 single base substitution G A synonymous_variant L345L 1033C>T SKCM-US 11 116747031 116747031 single base substitution G A upstream_gene_variant SKCM-US 11 116824823 116824823 single base substitution C T missense_variant V124I 370G>A SKCM-US 11 116824823 116824823 single base substitution C T missense_variant V131I 391G>A SKCM-US 11 116824823 116824823 single base substitution C T missense_variant V33I 97G>A SKCM-US 11 116824823 116824823 single base substitution C T missense_variant V73I 217G>A SKCM-US 11 116824823 116824823 single base substitution C T splice_region_variant SKCM-US 11 116827673 116827673 single base substitution C T 5_prime_UTR_variant SKCM-US 11 116827673 116827673 single base substitution C T exon_variant SKCM-US 11 116827673 116827673 single base substitution C T synonymous_variant R120R 360G>A SKCM-US 11 116827673 116827673 single base substitution C T synonymous_variant R127R 381G>A SKCM-US 11 116827673 116827673 single base substitution C T synonymous_variant R29R 87G>A SKCM-US 11 116827673 116827673 single base substitution C T synonymous_variant R69R 207G>A STAD-US 11 116717117 116717117 single base substitution C T 3_prime_UTR_variant STAD-US 11 116717117 116717117 single base substitution C T exon_variant STAD-US 11 116717117 116717117 single base substitution C T missense_variant V1102M 3304G>A STAD-US 11 116717117 116717117 single base substitution C T missense_variant V1203M 3607G>A STAD-US 11 116717117 116717117 single base substitution C T missense_variant V1261M 3781G>A STAD-US 11 116717117 116717117 single base substitution C T missense_variant V1263M 3787G>A STAD-US 11 116717117 116717117 single base substitution C T missense_variant V1321M 3961G>A STAD-US 11 116717117 116717117 single base substitution C T missense_variant V1362M 4084G>A STAD-US 11 116717117 116717117 single base substitution C T missense_variant V598M 1792G>A STAD-US 11 116717117 116717117 single base substitution C T missense_variant V70M 208G>A STAD-US 11 116717120 116717120 single base substitution C A 3_prime_UTR_variant STAD-US 11 116717120 116717120 single base substitution C A exon_variant STAD-US 11 116717120 116717120 single base substitution C A missense_variant G1101C 3301G>T STAD-US 11 116717120 116717120 single base substitution C A missense_variant G1202C 3604G>T STAD-US 11 116717120 116717120 single base substitution C A missense_variant G1260C 3778G>T STAD-US 11 116717120 116717120 single base substitution C A missense_variant G1262C 3784G>T STAD-US 11 116717120 116717120 single base substitution C A missense_variant G1320C 3958G>T STAD-US 11 116717120 116717120 single base substitution C A missense_variant G1361C 4081G>T STAD-US 11 116717120 116717120 single base substitution C A missense_variant G597C 1789G>T STAD-US 11 116717120 116717120 single base substitution C A missense_variant G69C 205G>T STAD-US 11 116717249 116717249 single base substitution C A 3_prime_UTR_variant STAD-US 11 116717249 116717249 single base substitution C A exon_variant STAD-US 11 116717249 116717249 single base substitution C A intron_variant STAD-US 11 116717249 116717249 single base substitution C A missense_variant G1058C 3172G>T STAD-US 11 116717249 116717249 single base substitution C A missense_variant G1159C 3475G>T STAD-US 11 116717249 116717249 single base substitution C A missense_variant G1217C 3649G>T STAD-US 11 116717249 116717249 single base substitution C A missense_variant G1219C 3655G>T STAD-US 11 116717249 116717249 single base substitution C A missense_variant G1277C 3829G>T STAD-US 11 116717249 116717249 single base substitution C A missense_variant G1318C 3952G>T STAD-US 11 116717249 116717249 single base substitution C A missense_variant G554C 1660G>T STAD-US 11 116718205 116718205 single base substitution A T 3_prime_UTR_variant STAD-US 11 116718205 116718205 single base substitution A T exon_variant STAD-US 11 116718205 116718205 single base substitution A T missense_variant D1046E 3138T>A STAD-US 11 116718205 116718205 single base substitution A T missense_variant D1147E 3441T>A STAD-US 11 116718205 116718205 single base substitution A T missense_variant D1205E 3615T>A STAD-US 11 116718205 116718205 single base substitution A T missense_variant D1207E 3621T>A STAD-US 11 116718205 116718205 single base substitution A T missense_variant D1265E 3795T>A STAD-US 11 116718205 116718205 single base substitution A T missense_variant D1306E 3918T>A STAD-US 11 116718205 116718205 single base substitution A T missense_variant D46E 138T>A STAD-US 11 116718205 116718205 single base substitution A T missense_variant D542E 1626T>A STAD-US 11 116719861 116719861 single base substitution G A 3_prime_UTR_variant STAD-US 11 116719861 116719861 single base substitution G A exon_variant STAD-US 11 116719861 116719861 single base substitution G A missense_variant T1099M 3296C>T STAD-US 11 116719861 116719861 single base substitution G A missense_variant T1157M 3470C>T STAD-US 11 116719861 116719861 single base substitution G A missense_variant T1159M 3476C>T STAD-US 11 116719861 116719861 single base substitution G A missense_variant T1217M 3650C>T STAD-US 11 116719861 116719861 single base substitution G A missense_variant T1258M 3773C>T STAD-US 11 116719861 116719861 single base substitution G A missense_variant T494M 1481C>T STAD-US 11 116719861 116719861 single base substitution G A missense_variant T998M 2993C>T STAD-US 11 116719861 116719861 single base substitution G A upstream_gene_variant STAD-US 11 116719913 116719913 single base substitution G A 3_prime_UTR_variant STAD-US 11 116719913 116719913 single base substitution G A exon_variant STAD-US 11 116719913 116719913 single base substitution G A missense_variant R1082C 3244C>T STAD-US 11 116719913 116719913 single base substitution G A missense_variant R1140C 3418C>T STAD-US 11 116719913 116719913 single base substitution G A missense_variant R1142C 3424C>T STAD-US 11 116719913 116719913 single base substitution G A missense_variant R1200C 3598C>T STAD-US 11 116719913 116719913 single base substitution G A missense_variant R1241C 3721C>T STAD-US 11 116719913 116719913 single base substitution G A missense_variant R477C 1429C>T STAD-US 11 116719913 116719913 single base substitution G A missense_variant R981C 2941C>T STAD-US 11 116719913 116719913 single base substitution G A upstream_gene_variant STAD-US 11 116719989 116719989 single base substitution T G 3_prime_UTR_variant STAD-US 11 116719989 116719989 single base substitution T G exon_variant STAD-US 11 116719989 116719989 single base substitution T G synonymous_variant I1056I 3168A>C STAD-US 11 116719989 116719989 single base substitution T G synonymous_variant I1114I 3342A>C STAD-US 11 116719989 116719989 single base substitution T G synonymous_variant I1116I 3348A>C STAD-US 11 116719989 116719989 single base substitution T G synonymous_variant I1174I 3522A>C STAD-US 11 116719989 116719989 single base substitution T G synonymous_variant I1215I 3645A>C STAD-US 11 116719989 116719989 single base substitution T G synonymous_variant I451I 1353A>C STAD-US 11 116719989 116719989 single base substitution T G synonymous_variant I955I 2865A>C STAD-US 11 116719989 116719989 single base substitution T G upstream_gene_variant STAD-US 11 116729395 116729395 single base substitution G A exon_variant STAD-US 11 116729395 116729395 single base substitution G A intron_variant STAD-US 11 116729395 116729395 single base substitution G A missense_variant S823F 2468C>T STAD-US 11 116729395 116729395 single base substitution G A missense_variant S881F 2642C>T STAD-US 11 116729395 116729395 single base substitution G A missense_variant S922F 2765C>T STAD-US 11 116730138 116730138 single base substitution G A 3_prime_UTR_variant STAD-US 11 116730138 116730138 single base substitution G A exon_variant STAD-US 11 116730138 116730138 single base substitution G A missense_variant P159S 475C>T STAD-US 11 116730138 116730138 single base substitution G A missense_variant P663S 1987C>T STAD-US 11 116730138 116730138 single base substitution G A missense_variant P764S 2290C>T STAD-US 11 116730138 116730138 single base substitution G A missense_variant P822S 2464C>T STAD-US 11 116730138 116730138 single base substitution G A missense_variant P863S 2587C>T STAD-US 11 116730231 116730231 single base substitution C T 3_prime_UTR_variant STAD-US 11 116730231 116730231 single base substitution C T exon_variant STAD-US 11 116730231 116730231 single base substitution C T missense_variant V128M 382G>A STAD-US 11 116730231 116730231 single base substitution C T missense_variant V632M 1894G>A STAD-US 11 116730231 116730231 single base substitution C T missense_variant V733M 2197G>A STAD-US 11 116730231 116730231 single base substitution C T missense_variant V791M 2371G>A STAD-US 11 116730231 116730231 single base substitution C T missense_variant V832M 2494G>A STAD-US 11 116733011 116733011 insertion of <=200bp - C 3_prime_UTR_variant STAD-US 11 116733011 116733011 insertion of <=200bp - C exon_variant STAD-US 11 116733011 116733011 insertion of <=200bp - C frameshift_variant G38G? STAD-US 11 116733011 116733011 insertion of <=200bp - C frameshift_variant G505G? STAD-US 11 116733011 116733011 insertion of <=200bp - C frameshift_variant G606G? STAD-US 11 116733011 116733011 insertion of <=200bp - C frameshift_variant G664G? STAD-US 11 116733011 116733011 insertion of <=200bp - C frameshift_variant G705G? STAD-US 11 116733011 116733011 insertion of <=200bp - C upstream_gene_variant STAD-US 11 116734399 116734399 single base substitution G C 3_prime_UTR_variant STAD-US 11 116734399 116734399 single base substitution G C downstream_gene_variant STAD-US 11 116734399 116734399 single base substitution G C exon_variant STAD-US 11 116734399 116734399 single base substitution G C missense_variant I489M 1467C>G STAD-US 11 116734399 116734399 single base substitution G C missense_variant I590M 1770C>G STAD-US 11 116734399 116734399 single base substitution G C missense_variant I648M 1944C>G STAD-US 11 116734399 116734399 single base substitution G C missense_variant I689M 2067C>G STAD-US 11 116734399 116734399 single base substitution G C stop_gained S22* 65C>G STAD-US 11 116734399 116734399 single base substitution G C upstream_gene_variant STAD-US 11 116734447 116734447 single base substitution G T 3_prime_UTR_variant STAD-US 11 116734447 116734447 single base substitution G T downstream_gene_variant STAD-US 11 116734447 116734447 single base substitution G T exon_variant STAD-US 11 116734447 116734447 single base substitution G T missense_variant S6Y 17C>A STAD-US 11 116734447 116734447 single base substitution G T synonymous_variant I473I 1419C>A STAD-US 11 116734447 116734447 single base substitution G T synonymous_variant I574I 1722C>A STAD-US 11 116734447 116734447 single base substitution G T synonymous_variant I632I 1896C>A STAD-US 11 116734447 116734447 single base substitution G T synonymous_variant I673I 2019C>A STAD-US 11 116734447 116734447 single base substitution G T upstream_gene_variant STAD-US 11 116744247 116744247 single base substitution G A 3_prime_UTR_variant STAD-US 11 116744247 116744247 single base substitution G A 5_prime_UTR_variant STAD-US 11 116744247 116744247 single base substitution G A downstream_gene_variant STAD-US 11 116744247 116744247 single base substitution G A exon_variant STAD-US 11 116744247 116744247 single base substitution G A stop_gained Q404* 1210C>T STAD-US 11 116744247 116744247 single base substitution G A stop_gained Q457* 1369C>T STAD-US 11 116744247 116744247 single base substitution G A stop_gained Q465* 1393C>T STAD-US 11 116744247 116744247 single base substitution G A stop_gained Q505* 1513C>T STAD-US 11 116744247 116744247 single base substitution G A stop_gained Q515* 1543C>T STAD-US 11 116744247 116744247 single base substitution G A stop_gained Q556* 1666C>T STAD-US 11 116744247 116744247 single base substitution G A stop_gained Q563* 1687C>T STAD-US 11 116744247 116744247 single base substitution G A upstream_gene_variant STAD-US 11 116744643 116744643 single base substitution T C 3_prime_UTR_variant STAD-US 11 116744643 116744643 single base substitution T C 5_prime_UTR_variant STAD-US 11 116744643 116744643 single base substitution T C downstream_gene_variant STAD-US 11 116744643 116744643 single base substitution T C synonymous_variant Q360Q 1080A>G STAD-US 11 116744643 116744643 single base substitution T C synonymous_variant Q413Q 1239A>G STAD-US 11 116744643 116744643 single base substitution T C synonymous_variant Q421Q 1263A>G STAD-US 11 116744643 116744643 single base substitution T C synonymous_variant Q461Q 1383A>G STAD-US 11 116744643 116744643 single base substitution T C synonymous_variant Q471Q 1413A>G STAD-US 11 116744643 116744643 single base substitution T C synonymous_variant Q512Q 1536A>G STAD-US 11 116744643 116744643 single base substitution T C synonymous_variant Q519Q 1557A>G STAD-US 11 116744643 116744643 single base substitution T C upstream_gene_variant STAD-US 11 116745890 116745890 single base substitution C A 3_prime_UTR_variant STAD-US 11 116745890 116745890 single base substitution C A 5_prime_UTR_variant STAD-US 11 116745890 116745890 single base substitution C A exon_variant STAD-US 11 116745890 116745890 single base substitution C A missense_variant G312C 934G>T STAD-US 11 116745890 116745890 single base substitution C A missense_variant G365C 1093G>T STAD-US 11 116745890 116745890 single base substitution C A missense_variant G373C 1117G>T STAD-US 11 116745890 116745890 single base substitution C A missense_variant G413C 1237G>T STAD-US 11 116745890 116745890 single base substitution C A missense_variant G423C 1267G>T STAD-US 11 116745890 116745890 single base substitution C A missense_variant G464C 1390G>T STAD-US 11 116745890 116745890 single base substitution C A missense_variant G471C 1411G>T STAD-US 11 116745890 116745890 single base substitution C A upstream_gene_variant STAD-US 11 116746643 116746643 single base substitution C T 3_prime_UTR_variant STAD-US 11 116746643 116746643 single base substitution C T 5_prime_UTR_variant STAD-US 11 116746643 116746643 single base substitution C T intron_variant STAD-US 11 116746643 116746643 single base substitution C T missense_variant R234H 701G>A STAD-US 11 116746643 116746643 single base substitution C T missense_variant R295H 884G>A STAD-US 11 116746643 116746643 single base substitution C T missense_variant R335H 1004G>A STAD-US 11 116746643 116746643 single base substitution C T missense_variant R386H 1157G>A STAD-US 11 116746643 116746643 single base substitution C T missense_variant R393H 1178G>A STAD-US 11 116746643 116746643 single base substitution C T upstream_gene_variant STAD-US 11 116767020 116767020 single base substitution G A 3_prime_UTR_variant STAD-US 11 116767020 116767020 single base substitution G A 5_prime_UTR_variant STAD-US 11 116767020 116767020 single base substitution G A exon_variant STAD-US 11 116767020 116767020 single base substitution G A missense_variant R113W 337C>T STAD-US 11 116767020 116767020 single base substitution G A missense_variant R174W 520C>T STAD-US 11 116767020 116767020 single base substitution G A missense_variant R214W 640C>T STAD-US 11 116767020 116767020 single base substitution G A missense_variant R265W 793C>T STAD-US 11 116767020 116767020 single base substitution G A missense_variant R272W 814C>T STAD-US 11 116767059 116767059 single base substitution C T 3_prime_UTR_variant STAD-US 11 116767059 116767059 single base substitution C T 5_prime_UTR_variant STAD-US 11 116767059 116767059 single base substitution C T exon_variant STAD-US 11 116767059 116767059 single base substitution C T missense_variant G100S 298G>A STAD-US 11 116767059 116767059 single base substitution C T missense_variant G161S 481G>A STAD-US 11 116767059 116767059 single base substitution C T missense_variant G201S 601G>A STAD-US 11 116767059 116767059 single base substitution C T missense_variant G252S 754G>A STAD-US 11 116767059 116767059 single base substitution C T missense_variant G259S 775G>A STAD-US 11 116798045 116798045 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 11 116798045 116798045 deletion of <=200bp A - 5_prime_UTR_variant STAD-US 11 116798045 116798045 deletion of <=200bp A - exon_variant STAD-US 11 116798045 116798045 deletion of <=200bp A - frameshift_variant F10 STAD-US 11 116798045 116798045 deletion of <=200bp A - frameshift_variant F111 STAD-US 11 116798045 116798045 deletion of <=200bp A - frameshift_variant F162 STAD-US 11 116798045 116798045 deletion of <=200bp A - frameshift_variant F169 STAD-US 11 116798045 116798045 deletion of <=200bp A - frameshift_variant F71 STAD-US 11 116968908 116968908 single base substitution C T 5_prime_UTR_variant STAD-US 11 116968908 116968908 single base substitution C T exon_variant STAD-US 11 116968908 116968908 single base substitution C T missense_variant G17D 50G>A STAD-US 11 116968908 116968908 single base substitution C T missense_variant G68D 203G>A STAD-US 11 116968908 116968908 single base substitution C T missense_variant G75D 224G>A UCEC-US 11 116717125 116717125 single base substitution T C 3_prime_UTR_variant UCEC-US 11 116717125 116717125 single base substitution T C exon_variant UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q1099R 3296A>G UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q1200R 3599A>G UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q1258R 3773A>G UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q1260R 3779A>G UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q1318R 3953A>G UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q1359R 4076A>G UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q595R 1784A>G UCEC-US 11 116717125 116717125 single base substitution T C missense_variant Q67R 200A>G UCEC-US 11 116717160 116717160 single base substitution G A 3_prime_UTR_variant UCEC-US 11 116717160 116717160 single base substitution G A exon_variant UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S1087S 3261C>T UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S1188S 3564C>T UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S1246S 3738C>T UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S1248S 3744C>T UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S1306S 3918C>T UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S1347S 4041C>T UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S55S 165C>T UCEC-US 11 116717160 116717160 single base substitution G A synonymous_variant S583S 1749C>T UCEC-US 11 116717201 116717201 single base substitution A G 3_prime_UTR_variant UCEC-US 11 116717201 116717201 single base substitution A G exon_variant UCEC-US 11 116717201 116717201 single base substitution A G intron_variant UCEC-US 11 116717201 116717201 single base substitution A G missense_variant S1074P 3220T>C UCEC-US 11 116717201 116717201 single base substitution A G missense_variant S1175P 3523T>C UCEC-US 11 116717201 116717201 single base substitution A G missense_variant S1233P 3697T>C UCEC-US 11 116717201 116717201 single base substitution A G missense_variant S1235P 3703T>C UCEC-US 11 116717201 116717201 single base substitution A G missense_variant S1293P 3877T>C UCEC-US 11 116717201 116717201 single base substitution A G missense_variant S1334P 4000T>C UCEC-US 11 116717201 116717201 single base substitution A G missense_variant S570P 1708T>C UCEC-US 11 116718322 116718322 single base substitution T C splice_region_variant UCEC-US 11 116719845 116719845 single base substitution G A 3_prime_UTR_variant UCEC-US 11 116719845 116719845 single base substitution G A exon_variant UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D1003D 3009C>T UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D1104D 3312C>T UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D1162D 3486C>T UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D1164D 3492C>T UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D1222D 3666C>T UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D1263D 3789C>T UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D3D 9C>T UCEC-US 11 116719845 116719845 single base substitution G A synonymous_variant D499D 1497C>T UCEC-US 11 116728623 116728623 single base substitution A C 3_prime_UTR_variant UCEC-US 11 116728623 116728623 single base substitution A C exon_variant UCEC-US 11 116728623 116728623 single base substitution A C synonymous_variant S1020S 3060T>G UCEC-US 11 116728623 116728623 single base substitution A C synonymous_variant S1078S 3234T>G UCEC-US 11 116728623 116728623 single base substitution A C synonymous_variant S1080S 3240T>G UCEC-US 11 116728623 116728623 single base substitution A C synonymous_variant S1138S 3414T>G UCEC-US 11 116728623 116728623 single base substitution A C synonymous_variant S1179S 3537T>G UCEC-US 11 116728623 116728623 single base substitution A C synonymous_variant S415S 1245T>G UCEC-US 11 116728623 116728623 single base substitution A C synonymous_variant S919S 2757T>G UCEC-US 11 116729044 116729044 single base substitution C T 3_prime_UTR_variant UCEC-US 11 116729044 116729044 single base substitution C T exon_variant UCEC-US 11 116729044 116729044 single base substitution C T missense_variant R1039K 3116G>A UCEC-US 11 116729044 116729044 single base substitution C T missense_variant R275K 824G>A UCEC-US 11 116729044 116729044 single base substitution C T missense_variant R779K 2336G>A UCEC-US 11 116729044 116729044 single base substitution C T missense_variant R880K 2639G>A UCEC-US 11 116729044 116729044 single base substitution C T missense_variant R938K 2813G>A UCEC-US 11 116729044 116729044 single base substitution C T missense_variant R940K 2819G>A UCEC-US 11 116729044 116729044 single base substitution C T missense_variant R998K 2993G>A UCEC-US 11 116729114 116729114 single base substitution G A 3_prime_UTR_variant UCEC-US 11 116729114 116729114 single base substitution G A exon_variant UCEC-US 11 116729114 116729114 single base substitution G A missense_variant P1016S 3046C>T UCEC-US 11 116729114 116729114 single base substitution G A missense_variant P252S 754C>T UCEC-US 11 116729114 116729114 single base substitution G A missense_variant P756S 2266C>T UCEC-US 11 116729114 116729114 single base substitution G A missense_variant P857S 2569C>T UCEC-US 11 116729114 116729114 single base substitution G A missense_variant P915S 2743C>T UCEC-US 11 116729114 116729114 single base substitution G A missense_variant P917S 2749C>T UCEC-US 11 116729114 116729114 single base substitution G A missense_variant P975S 2923C>T UCEC-US 11 116730253 116730253 single base substitution C T 3_prime_UTR_variant UCEC-US 11 116730253 116730253 single base substitution C T exon_variant UCEC-US 11 116730253 116730253 single base substitution C T synonymous_variant E120E 360G>A UCEC-US 11 116730253 116730253 single base substitution C T synonymous_variant E624E 1872G>A UCEC-US 11 116730253 116730253 single base substitution C T synonymous_variant E725E 2175G>A UCEC-US 11 116730253 116730253 single base substitution C T synonymous_variant E783E 2349G>A UCEC-US 11 116730253 116730253 single base substitution C T synonymous_variant E824E 2472G>A UCEC-US 11 116732609 116732609 single base substitution G A 3_prime_UTR_variant UCEC-US 11 116732609 116732609 single base substitution G A exon_variant UCEC-US 11 116732609 116732609 single base substitution G A missense_variant L548F 1642C>T UCEC-US 11 116732609 116732609 single base substitution G A missense_variant L649F 1945C>T UCEC-US 11 116732609 116732609 single base substitution G A missense_variant L707F 2119C>T UCEC-US 11 116732609 116732609 single base substitution G A missense_variant L748F 2242C>T UCEC-US 11 116732609 116732609 single base substitution G A synonymous_variant L80L 240C>T UCEC-US 11 116732609 116732609 single base substitution G A upstream_gene_variant UCEC-US 11 116732935 116732935 single base substitution G T 3_prime_UTR_variant UCEC-US 11 116732935 116732935 single base substitution G T exon_variant UCEC-US 11 116732935 116732935 single base substitution G T missense_variant F63L 189C>A UCEC-US 11 116732935 116732935 single base substitution G T missense_variant L531I 1591C>A UCEC-US 11 116732935 116732935 single base substitution G T missense_variant L632I 1894C>A UCEC-US 11 116732935 116732935 single base substitution G T missense_variant L690I 2068C>A UCEC-US 11 116732935 116732935 single base substitution G T missense_variant L731I 2191C>A UCEC-US 11 116732935 116732935 single base substitution G T upstream_gene_variant UCEC-US 11 116733035 116733035 single base substitution C T 3_prime_UTR_variant UCEC-US 11 116733035 116733035 single base substitution C T exon_variant UCEC-US 11 116733035 116733035 single base substitution C T missense_variant S30N 89G>A UCEC-US 11 116733035 116733035 single base substitution C T synonymous_variant E497E 1491G>A UCEC-US 11 116733035 116733035 single base substitution C T synonymous_variant E598E 1794G>A UCEC-US 11 116733035 116733035 single base substitution C T synonymous_variant E656E 1968G>A UCEC-US 11 116733035 116733035 single base substitution C T synonymous_variant E697E 2091G>A UCEC-US 11 116733035 116733035 single base substitution C T upstream_gene_variant UCEC-US 11 116734472 116734472 single base substitution C T 3_prime_UTR_variant UCEC-US 11 116734472 116734472 single base substitution C T 5_prime_UTR_variant UCEC-US 11 116734472 116734472 single base substitution C T downstream_gene_variant UCEC-US 11 116734472 116734472 single base substitution C T exon_variant UCEC-US 11 116734472 116734472 single base substitution C T missense_variant R465Q 1394G>A UCEC-US 11 116734472 116734472 single base substitution C T missense_variant R566Q 1697G>A UCEC-US 11 116734472 116734472 single base substitution C T missense_variant R624Q 1871G>A UCEC-US 11 116734472 116734472 single base substitution C T missense_variant R665Q 1994G>A UCEC-US 11 116734472 116734472 single base substitution C T upstream_gene_variant UCEC-US 11 116746647 116746647 single base substitution G T 3_prime_UTR_variant UCEC-US 11 116746647 116746647 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 11 116746647 116746647 single base substitution G T intron_variant UCEC-US 11 116746647 116746647 single base substitution G T missense_variant L233M 697C>A UCEC-US 11 116746647 116746647 single base substitution G T missense_variant L294M 880C>A UCEC-US 11 116746647 116746647 single base substitution G T missense_variant L334M 1000C>A UCEC-US 11 116746647 116746647 single base substitution G T missense_variant L385M 1153C>A UCEC-US 11 116746647 116746647 single base substitution G T missense_variant L392M 1174C>A UCEC-US 11 116746647 116746647 single base substitution G T upstream_gene_variant UCEC-US 11 116747037 116747037 single base substitution C A 3_prime_UTR_variant UCEC-US 11 116747037 116747037 single base substitution C A 5_prime_UTR_variant UCEC-US 11 116747037 116747037 single base substitution C A missense_variant D184Y 550G>T UCEC-US 11 116747037 116747037 single base substitution C A missense_variant D245Y 733G>T UCEC-US 11 116747037 116747037 single base substitution C A missense_variant D285Y 853G>T UCEC-US 11 116747037 116747037 single base substitution C A missense_variant D336Y 1006G>T UCEC-US 11 116747037 116747037 single base substitution C A missense_variant D343Y 1027G>T UCEC-US 11 116747037 116747037 single base substitution C A upstream_gene_variant UCEC-US 11 116767013 116767013 single base substitution C T 3_prime_UTR_variant UCEC-US 11 116767013 116767013 single base substitution C T 5_prime_UTR_variant UCEC-US 11 116767013 116767013 single base substitution C T exon_variant UCEC-US 11 116767013 116767013 single base substitution C T missense_variant R115H 344G>A UCEC-US 11 116767013 116767013 single base substitution C T missense_variant R176H 527G>A UCEC-US 11 116767013 116767013 single base substitution C T missense_variant R216H 647G>A UCEC-US 11 116767013 116767013 single base substitution C T missense_variant R267H 800G>A UCEC-US 11 116767013 116767013 single base substitution C T missense_variant R274H 821G>A UCEC-US 11 116767020 116767020 single base substitution G A 3_prime_UTR_variant UCEC-US 11 116767020 116767020 single base substitution G A 5_prime_UTR_variant UCEC-US 11 116767020 116767020 single base substitution G A exon_variant UCEC-US 11 116767020 116767020 single base substitution G A missense_variant R113W 337C>T UCEC-US 11 116767020 116767020 single base substitution G A missense_variant R174W 520C>T UCEC-US 11 116767020 116767020 single base substitution G A missense_variant R214W 640C>T UCEC-US 11 116767020 116767020 single base substitution G A missense_variant R265W 793C>T UCEC-US 11 116767020 116767020 single base substitution G A missense_variant R272W 814C>T UCEC-US 11 116797961 116797961 single base substitution T C 3_prime_UTR_variant UCEC-US 11 116797961 116797961 single base substitution T C 5_prime_UTR_variant UCEC-US 11 116797961 116797961 single base substitution T C exon_variant UCEC-US 11 116797961 116797961 single base substitution T C missense_variant D139G 416A>G UCEC-US 11 116797961 116797961 single base substitution T C missense_variant D190G 569A>G UCEC-US 11 116797961 116797961 single base substitution T C missense_variant D197G 590A>G UCEC-US 11 116797961 116797961 single base substitution T C missense_variant D38G 113A>G UCEC-US 11 116797961 116797961 single base substitution T C missense_variant D99G 296A>G UCEC-US 11 116968892 116968892 single base substitution G C 5_prime_UTR_variant UCEC-US 11 116968892 116968892 single base substitution G C exon_variant UCEC-US 11 116968892 116968892 single base substitution G C synonymous_variant V22V 66C>G UCEC-US 11 116968892 116968892 single base substitution G C synonymous_variant V73V 219C>G UCEC-US 11 116968892 116968892 single base substitution G C synonymous_variant V80V 240C>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-33-6737-01 COSM686246 c.3757G>T p.E1253* Substitution - Nonsense 11:116849182-116849182 - SNU-175 COSM2104355 c.2799C>T p.Y933Y Substitution - coding silent 11:116858666-116858666 - RMS112_ COSM2104349 c.3071G>A p.R1024Q Substitution - Missense 11:116858394-116858394 - RK241_C01 COSM4778586 c.1864G>A p.E622K Substitution - Missense 11:116868034-116868034 - PT48 COSM5932903 c.1561A>G p.T521A Substitution - Missense 11:116873923-116873923 - TCGA-D7-A4YY-01 COSM4018090 c.3973G>T p.G1325C Substitution - Missense 11:116846533-116846533 - 5_FL COSM4170316 c.2377C>A p.P793T Substitution - Missense 11:116861322-116861322 - TCGA-43-6143-01 COSM686238 c.1448T>C p.L483P Substitution - Missense 11:116874036-116874036 - ATL004 COSM5703877 c.3086G>A p.G1029D Substitution - Missense 11:116858379-116858379 - TCGA-18-3409-01 COSM686244 c.2895C>T p.T965T Substitution - coding silent 11:116858570-116858570 - PD1583a COSM20749 c.2645C>G p.S882C Substitution - Missense 11:116859385-116859385 - SCMC_RM2_ COSM99013 c.2250G>A p.Q750Q Substitution - coding silent 11:116861906-116861906 - SJRHB049 COSM3738146 c.1084C>G p.Q362E Substitution - Missense 11:116876264-116876264 - 8066067 COSM3383214 c.767T>A p.L256H Substitution - Missense 11:116896351-116896351 - TCGA-BR-A4QL-01 COSM4018103 c.1178G>A p.R393H Substitution - Missense 11:116875927-116875927 - 01-P8014 COSM4574062 c.3939T>C p.D1313D Substitution - coding silent 11:116847489-116847489 - TCGA-EJ-5521-01 COSM1127903 c.2872A>G p.T958A Substitution - Missense 11:116858593-116858593 - LPJ108 COSM1316389 c.889A>C p.M297L Substitution - Missense 11:116877019-116877019 - TCGA-D1-A17Q-01 COSM923384 c.2493G>A p.E831E Substitution - coding silent 11:116859537-116859537 - CSCC-30-T COSM4564805 c.1641_1642CC>TA p.(=) Unknown 11:116873576-116873577 - PTC-7C COSM4145341 c.2947G>C p.A983P Substitution - Missense 11:116858518-116858518 - HCC61T COSM1604140 c.1777G>A p.D593N Substitution - Missense 11:116870362-116870362 - PTC-7C COSM4145349 c.2919T>C p.L973L Substitution - coding silent 11:116858546-116858546 - CHC1035T COSM251129 c.1697A>G p.K566R Substitution - Missense 11:116873521-116873521 - PTC-7C COSM4145344 c.2939C>A p.P980H Substitution - Missense 11:116858526-116858526 - sysucc-1163T COSM5458177 c.734A>G p.D245G Substitution - Missense 11:116897200-116897200 - TCGA-BR-8588-01 COSM4018099 c.2040C>A p.I680I Substitution - coding silent 11:116863731-116863731 - PTC-7C COSM4145343 c.2941C>T p.P981S Substitution - Missense 11:116858524-116858524 - HN_62624 COSM126924 c.3485C>G p.S1162* Substitution - Nonsense 11:116857980-116857980 - 2497781 COSM5519087 c.1273G>A p.V425I Substitution - Missense 11:116875418-116875418 - TCGA-HU-A4GQ-01 COSM4018095 c.2786C>T p.S929F Substitution - Missense 11:116858679-116858679 - PD9605a COSM5772543 c.823G>A p.V275M Substitution - Missense 11:116896295-116896295 - TCGA-AA-3492-01 COSM1351479 c.2613C>T p.G871G Substitution - coding silent 11:116859417-116859417 - 8057501 COSM3383214 c.767T>A p.L256H Substitution - Missense 11:116896351-116896351 - HCT15 COSM2104397 c.1182C>T p.L394L Substitution - coding silent 11:116875923-116875923 - PCSI_0083_Pa_P_526 COSM3375659 c.334C>T p.R112W Substitution - Missense 11:116957004-116957004 - IPMN21 COSM248858 c.3273G>C p.Q1091H Substitution - Missense 11:116858192-116858192 - 8066081 COSM3383214 c.767T>A p.L256H Substitution - Missense 11:116896351-116896351 - TCGA-FW-A3R5-06 COSM3868485 c.1484C>T p.P495L Substitution - Missense 11:116874000-116874000 - 107049 COSM94576 c.2104G>C p.E702Q Substitution - Missense 11:116862327-116862327 - 104855 COSM95978 c.2037C>T p.S679S Substitution - coding silent 11:116863734-116863734 - Pat_41_B COSM5837856 c.3872G>A p.S1291N Substitution - Missense 11:116847556-116847556 - TCGA-D3-A2JH-06 COSM3443737 c.3048C>T p.I1016I Substitution - coding silent 11:116858417-116858417 - HCT8 COSM2104336 c.3534C>T p.T1178T Substitution - coding silent 11:116857931-116857931 - sysucc-1397T COSM5473081 c.1528C>T p.H510Y Substitution - Missense 11:116873956-116873956 - PT38 COSM5922928 c.847C>T p.P283S Substitution - Missense 11:116896271-116896271 - PTC-7C COSM4145347 c.2924A>C p.Q975P Substitution - Missense 11:116858541-116858541 - H650 COSM1194286 c.2845G>T p.G949C Substitution - Missense 11:116858620-116858620 - N87 COSM99014 c.2056C>T p.H686Y Substitution - Missense 11:116863715-116863715 - TCGA-BH-A0HP-01 COSM428463 c.455-1G>T p.? Unknown 11:116927381-116927381 - TCGA-B5-A0K2-01 COSM923383 c.3067C>T p.P1023S Substitution - Missense 11:116858398-116858398 - CHC2351T COSM4801222 c.3248G>C p.G1083A Substitution - Missense 11:116858217-116858217 - SW48 COSM2104349 c.3071G>A p.R1024Q Substitution - Missense 11:116858394-116858394 - HCT116 COSM1676452 c.544C>T p.R182W Substitution - Missense 11:116927291-116927291 - TCGA-A4-A48D-01 COSM3985947 c.1742T>C p.V581A Substitution - Missense 11:116870397-116870397 - TCGA-EW-A1IZ-01 COSM1475060 c.2030C>T p.A677V Substitution - Missense 11:116863741-116863741 - TCGA-EE-A20C-06 COSM3443741 c.2788C>T p.P930S Substitution - Missense 11:116858677-116858677 - SC_9073 COSM5550181 c.1861G>A p.A621T Substitution - Missense 11:116868037-116868037 - CSCC-29-T COSM4450373 c.742-1G>C p.? Unknown 11:116896377-116896377 - C086 COSM5538960 c.3887C>T p.S1296L Substitution - Missense 11:116847541-116847541 - TCGA-42-2587-01 COSM1321899 c.404A>C p.E135A Substitution - Missense 11:116954094-116954094 - TCGA-EQ-A4SO-01 COSM4018098 c.2088C>G p.I696M Substitution - Missense 11:116863683-116863683 - CHC1035T COSM251129 c.1697A>G p.K566R Substitution - Missense 11:116873521-116873521 - TCGA-EE-A2MC-06 COSM3443744 c.2311C>T p.Q771* Substitution - Nonsense 11:116861845-116861845 - ICGC_MB101 COSM3764280 c.3713C>T p.P1238L Substitution - Missense 11:116849226-116849226 - ME100L COSM231266 c.2890C>T p.P964S Substitution - Missense 11:116858575-116858575 - TCGA-EE-A17X-06 COSM3443745 c.1641C>T p.G547G Substitution - coding silent 11:116873577-116873577 - BD236T COSM5519087 c.1273G>A p.V425I Substitution - Missense 11:116875418-116875418 - 587222 COSM1225735 c.3496A>G p.T1166A Substitution - Missense 11:116857969-116857969 - TCGA-ER-A194-01 COSM3443733 c.3750C>T p.S1250S Substitution - coding silent 11:116849189-116849189 - T2938 COSM4726084 c.1437T>C p.V479V Substitution - coding silent 11:116874047-116874047 - TCGA-B5-A11E-01 COSM923377 c.4062C>T p.S1354S Substitution - coding silent 11:116846444-116846444 - TCGA-AA-A00N-01 COSM277271 c.533T>G p.F178C Substitution - Missense 11:116927302-116927302 - TCGA-A6-6653-01 COSM1351480 c.2051A>G p.K684R Substitution - Missense 11:116863720-116863720 - PT41 COSM5924550 c.3951G>A p.E1317E Substitution - coding silent 11:116847477-116847477 - TCGA-J9-A52C-01 COSM4877254 c.3888G>A p.S1296S Substitution - coding silent 11:116847540-116847540 - HCC76 COSM1604139 c.3841G>A p.G1281R Substitution - Missense 11:116847587-116847587 - TCGA-FS-A4F9-06 COSM3443740 c.2824C>T p.L942L Substitution - coding silent 11:116858641-116858641 - TCGA-EE-A2MR-06 COSM3443742 c.2429C>T p.A810V Substitution - Missense 11:116859601-116859601 - TCGA-CD-A4MG-01 COSM4018089 c.4102G>T p.G1368C Substitution - Missense 11:116846404-116846404 - TCGA-AA-3549-01 COSM292201 c.649C>A p.Q217K Substitution - Missense 11:116897285-116897285 - TCGA-EE-A181-06 COSM3443739 c.2928C>T p.F976F Substitution - coding silent 11:116858537-116858537 - AOCS-088-3-8 COSM3981304 c.3742C>A p.R1248S Substitution - Missense 11:116849197-116849197 - B81-2-Tumor COSM1746052 c.501G>A p.R167R Substitution - coding silent 11:116927334-116927334 - 0030_CRUK_PC_0030_T1_DNA COSM5423158 c.2229A>C p.Q743H Substitution - Missense 11:116862202-116862202 - TCGA-A3-3380-01 COSM1492387 c.2638G>A p.G880S Substitution - Missense 11:116859392-116859392 - TCGA-BS-A0TG-01 COSM923388 c.2015G>A p.R672Q Substitution - Missense 11:116863756-116863756 - TCGA-A4-A48D-01 COSM3985946 c.3070C>T p.R1024W Substitution - Missense 11:116858395-116858395 - PT28 COSM99014 c.2056C>T p.H686Y Substitution - Missense 11:116863715-116863715 - HCT-116 COSM1676452 c.544C>T p.R182W Substitution - Missense 11:116927291-116927291 - TCGA-22-1011-01 COSM686241 c.2620G>A p.A874T Substitution - Missense 11:116859410-116859410 - TCGA-A6-6650-01 COSM3687098 c.3561G>A p.L1187L Substitution - coding silent 11:116857904-116857904 - PTC-7C COSM4145345 c.2932A>T p.T978S Substitution - Missense 11:116858533-116858533 - ESO-963 COSM1265605 c.2683C>T p.R895C Substitution - Missense 11:116859347-116859347 - HCT15 COSM2104336 c.3534C>T p.T1178T Substitution - coding silent 11:116857931-116857931 - TCGA-F5-6814-01 COSM3415557 c.3180G>T p.Q1060H Substitution - Missense 11:116858285-116858285 - 5_FL COSM4170317 c.1223C>A p.A408E Substitution - Missense 11:116875882-116875882 - TCGA-CD-8525-01 COSM4018094 c.3666A>C p.I1222I Substitution - coding silent 11:116849273-116849273 - TCGA-D8-A1XQ-01 COSM3808418 c.390G>A p.Q130Q Substitution - coding silent 11:116956948-116956948 - YUKLAB COSM1704586 c.1634C>T p.P545L Substitution - Missense 11:116873584-116873584 - T3021 COSM4726081 c.2960C>T p.P987L Substitution - Missense 11:116858505-116858505 - 394 COSM3723545 c.3730G>A p.G1244R Substitution - Missense 11:116849209-116849209 - TCGA-A8-A06Q-01 COSM428461 c.2694G>A p.L898L Substitution - coding silent 11:116859336-116859336 - TCGA-13-0890-01 COSM76428 c.2319A>C p.L773F Substitution - Missense 11:116861380-116861380 - TCGA-BS-A0UF-01 COSM923390 c.1027G>T p.D343Y Substitution - Missense 11:116876321-116876321 - H1703 COSM1196525 c.1241C>T p.A414V Substitution - Missense 11:116875450-116875450 - 412 COSM4431035 c.3207C>T p.H1069H Substitution - coding silent 11:116858258-116858258 - TCGA-B5-A11G-01 COSM923393 c.590A>G p.D197G Substitution - Missense 11:116927245-116927245 - TCGA-HT-7474-01 COSM2104327 c.3807C>T p.S1269S Substitution - coding silent 11:116849132-116849132 - CHC2351T COSM4801222 c.3248G>C p.G1083A Substitution - Missense 11:116858217-116858217 - TCGA-D1-A17H-01 COSM923394 c.464T>C p.V155A Substitution - Missense 11:116927371-116927371 - MZ7-mel COSM21178 c.1428C>T p.R476R Substitution - coding silent 11:116874056-116874056 - MO_1118 COSM5566419 c.1700G>A p.R567H Substitution - Missense 11:116873518-116873518 - TCGA-BR-4257-01 COSM4018101 c.1557A>G p.Q519Q Substitution - coding silent 11:116873927-116873927 - TCGA-EY-A1GS-01 COSM923395 c.240C>G p.V80V Substitution - coding silent 11:117098176-117098176 - TCGA-AX-A060-01 COSM923381 c.3558T>G p.S1186S Substitution - coding silent 11:116857907-116857907 - CPCG0182-F1 COSM4966310 c.1332G>A p.L444L Substitution - coding silent 11:116875253-116875253 - LIM2405 COSM4641410 c.1563C>T p.T521T Substitution - coding silent 11:116873921-116873921 - Hs-578-T COSM33639 c.1166A>T p.H389L Substitution - Missense 11:116875939-116875939 - C135 COSM4617080 c.579T>G p.N193K Substitution - Missense 11:116927256-116927256 - sysucc-1370T COSM5469500 c.2720G>A p.R907H Substitution - Missense 11:116859310-116859310 - S02243 COSM5677623 c.960G>T p.G320G Substitution - coding silent 11:116876948-116876948 - TCGA-AA-A01V-01 COSM300341 c.822C>T p.R274R Substitution - coding silent 11:116896296-116896296 - TCGA-BH-A0W3-01 COSM5217972 c.2397delC p.M800fs*1 Deletion - Frameshift 11:116861302-116861302 - TCGA-61-1900-01 COSM1321900 c.2542C>G p.Q848E Substitution - Missense 11:116859488-116859488 - ESCC-002T COSM3935330 c.1718C>T p.P573L Substitution - Missense 11:116873500-116873500 - 8057513 COSM3383214 c.767T>A p.L256H Substitution - Missense 11:116896351-116896351 - PCSI_0083_Pa_X COSM3375659 c.334C>T p.R112W Substitution - Missense 11:116957004-116957004 - LS411 COSM2104332 c.3698A>G p.Q1233R Substitution - Missense 11:116849241-116849241 - T1204 COSM4726082 c.2730C>G p.S910S Substitution - coding silent 11:116859300-116859300 - CSCC-10-T COSM4481697 c.2851C>T p.P951S Substitution - Missense 11:116858614-116858614 - TCGA-GN-A26C-01 COSM3443734 c.3736C>T p.P1246S Substitution - Missense 11:116849203-116849203 - TCGA-EP-A2KA-01 COSM4917434 c.1099T>C p.L367L Substitution - coding silent 11:116876006-116876006 - 2474089 COSM5880117 c.1192C>T p.P398S Substitution - Missense 11:116875913-116875913 - TCGA-ER-A193-06 COSM3443749 c.381G>A p.R127R Substitution - coding silent 11:116956957-116956957 - 2293788 COSM4609635 c.742-2A>C p.? Unknown 11:116896378-116896378 - 1920_T COSM3979148 c.1849A>T p.T617S Substitution - Missense 11:116868049-116868049 - B90 COSM1746051 c.3421G>C p.E1141Q Substitution - Missense 11:116858044-116858044 - PT37 COSM5920273 c.677C>T p.P226L Substitution - Missense 11:116897257-116897257 - TCGA-BR-A4QL-01 COSM4018102 c.1411G>T p.G471C Substitution - Missense 11:116875174-116875174 - PTC-7C COSM4145348 c.2920G>C p.D974H Substitution - Missense 11:116858545-116858545 - TCGA-AA-A010-01 COSM284989 c.1050C>A p.L350L Substitution - coding silent 11:116876298-116876298 - TCGA-AP-A056-01 COSM923379 c.3822A>G p.V1274V Substitution - coding silent 11:116847606-116847606 - TCGA-G4-6628-01 COSM1351484 c.774C>T p.C258C Substitution - coding silent 11:116896344-116896344 - CSCC-16-T COSM4477309 c.2458C>T p.P820S Substitution - Missense 11:116859572-116859572 - HCC131T COSM1604141 c.1703delC p.P568fs*10 Deletion - Frameshift 11:116873515-116873515 - YUKLAB COSM1704589 c.820C>T p.R274C Substitution - Missense 11:116896298-116896298 - LUAD-5V8LT COSM401279 c.1738-1G>T p.? Unknown 11:116870402-116870402 - Hs578T COSM33639 c.1166A>T p.H389L Substitution - Missense 11:116875939-116875939 - S00339 COSM5657292 c.478A>G p.M160V Substitution - Missense 11:116927357-116927357 - HT115 COSM2104410 c.516C>T p.I172I Substitution - coding silent 11:116927319-116927319 - TCGA-DD-A39Y-01 COSM4934473 c.1487A>G p.Q496R Substitution - Missense 11:116873997-116873997 - CHC892T COSM4961465 c.3226G>A p.G1076R Substitution - Missense 11:116858239-116858239 - HCT116 COSM1676451 c.2635C>T p.R879C Substitution - Missense 11:116859395-116859395 - PTC-28C COSM4145340 c.3555A>G p.E1185E Substitution - coding silent 11:116857910-116857910 - 2476_PT COSM5753600 c.2062G>A p.E688K Substitution - Missense 11:116863709-116863709 - YUKAT COSM5371724 c.2462C>T p.S821F Substitution - Missense 11:116859568-116859568 - TCGA-66-2792-01 COSM686242 c.2822A>G p.H941R Substitution - Missense 11:116858643-116858643 - DLD1 COSM2104336 c.3534C>T p.T1178T Substitution - coding silent 11:116857931-116857931 - TCGA-37-4133-01 COSM686239 c.1955C>G p.S652C Substitution - Missense 11:116863816-116863816 - ESCC_167 COSM5648574 c.2021C>T p.S674L Substitution - Missense 11:116863750-116863750 - TCGA-AN-A046-01 COSM3808417 c.993T>C p.A331A Substitution - coding silent 11:116876355-116876355 - S01861 COSM5670969 c.2512A>T p.N838Y Substitution - Missense 11:116859518-116859518 - TCGA-EE-A3JA-06 COSM3443746 c.1153C>T p.R385* Substitution - Nonsense 11:116875952-116875952 - pfg122T COSM4760456 c.2113C>T p.Q705* Substitution - Nonsense 11:116862318-116862318 - TCGA-32-2638-01 COSM3397434 c.2372G>A p.R791K Substitution - Missense 11:116861327-116861327 - TCGA-13-0793-01 COSM82323 c.2637C>T p.R879R Substitution - coding silent 11:116859393-116859393 - PTC-7C COSM4145342 c.2945G>C p.S982T Substitution - Missense 11:116858520-116858520 - TCGA-CA-6717-01 COSM1351485 c.554T>G p.V185G Substitution - Missense 11:116927281-116927281 - TCGA-CJ-6031-01 COSM466364 c.1067T>C p.M356T Substitution - Missense 11:116876281-116876281 - HCT8 COSM2104406 c.663C>T p.T221T Substitution - coding silent 11:116897271-116897271 - TCGA-BR-6452-01 COSM4018100 c.1687C>T p.Q563* Substitution - Nonsense 11:116873531-116873531 - PT33 COSM5909165 c.3746C>T p.P1249L Substitution - Missense 11:116849193-116849193 - LUAD-YINHD COSM348341 c.3706G>A p.E1236K Substitution - Missense 11:116849233-116849233 - TCGA-A7-A4SB-01 COSM3375659 c.334C>T p.R112W Substitution - Missense 11:116957004-116957004 - TCGA-EE-A2MD-06 COSM3443735 c.3586G>T p.E1196* Substitution - Nonsense 11:116857879-116857879 - TCGA-RG-A7D4-01 COSM4918809 c.3385C>T p.H1129Y Substitution - Missense 11:116858080-116858080 - MZ7-mel COSM21178 c.1428C>T p.R476R Substitution - coding silent 11:116874056-116874056 - TCGA-CG-4442-01 COSM4018104 c.775G>A p.G259S Substitution - Missense 11:116896343-116896343 - PT45 COSM5927651 c.1493C>T p.P498L Substitution - Missense 11:116873991-116873991 - B81-2 COSM1746052 c.501G>A p.R167R Substitution - coding silent 11:116927334-116927334 - TCGA-BG-A0MS-01 COSM923382 c.3137G>A p.R1046K Substitution - Missense 11:116858328-116858328 - RK200_C01 COSM3738874 c.1385A>G p.Y462C Substitution - Missense 11:116875200-116875200 - TCGA-CG-5734-01 COSM4018091 c.3939T>A p.D1313E Substitution - Missense 11:116847489-116847489 - PT42 COSM5925638 c.1325G>A p.G442E Substitution - Missense 11:116875260-116875260 - TCGA-BR-A4QL-01 COSM4018093 c.3742C>T p.R1248C Substitution - Missense 11:116849197-116849197 - YUKLAB COSM1704588 c.970C>T p.P324S Substitution - Missense 11:116876938-116876938 - TCGA-DA-A3F5-06 COSM3443747 c.1033C>T p.L345L Substitution - coding silent 11:116876315-116876315 - TCGA-EE-A3AG-06 COSM3443748 c.391G>A p.V131I Substitution - Missense 11:116954107-116954107 - TCGA-GM-A2D9-01 COSM3808419 c.321G>A p.L107L Substitution - coding silent 11:116957017-116957017 - CHC097T COSM1351484 c.774C>T p.C258C Substitution - coding silent 11:116896344-116896344 - T36 COSM5341405 c.741+5G>A p.? Unknown 11:116897188-116897188 - pfg025T COSM1638745 c.1756C>T p.P586S Substitution - Missense 11:116870383-116870383 - CSCC-20-T COSM4476523 c.2392C>T p.P798S Substitution - Missense 11:116861307-116861307 - HCT-116 COSM1676451 c.2635C>T p.R879C Substitution - Missense 11:116859395-116859395 - TCGA-CW-5584-01 COSM466363 c.3850C>T p.L1284F Substitution - Missense 11:116847578-116847578 - TCGA-A5-A0VP-01 COSM923376 c.4097A>G p.Q1366R Substitution - Missense 11:116846409-116846409 - TCGA-GN-A266-06 COSM3443743 c.2415C>T p.I805I Substitution - coding silent 11:116861284-116861284 - TCGA-KK-A6E5-01 COSM4876216 c.2831C>T p.S944L Substitution - Missense 11:116858634-116858634 - QC2-32-T2 COSM3998243 c.3551C>G p.P1184R Substitution - Missense 11:116857914-116857914 - TCGA-BK-A0C9-01 COSM923385 c.2263C>T p.L755F Substitution - Missense 11:116861893-116861893 - PCSI_0083_Pa_P COSM3375659 c.334C>T p.R112W Substitution - Missense 11:116957004-116957004 - TMK1 COSM99013 c.2250G>A p.Q750Q Substitution - coding silent 11:116861906-116861906 - TCGA-D1-A103-01 COSM923380 c.3810C>T p.D1270D Substitution - coding silent 11:116849129-116849129 - TCGA-ER-A19D-06 COSM3443738 c.2978C>T p.S993L Substitution - Missense 11:116858487-116858487 - HCT15 COSM2104406 c.663C>T p.T221T Substitution - coding silent 11:116897271-116897271 - NCI-H1770 COSM12907 c.2506C>T p.P836S Substitution - Missense 11:116859524-116859524 - PCSI_0609_Pa_P_526 COSM5761541 c.3142C>T p.Q1048* Substitution - Nonsense 11:116858323-116858323 - pfg099T COSM4760457 c.1381C>T p.R461C Substitution - Missense 11:116875204-116875204 - TCGA-EJ-7123-01 COSM3670669 c.3544G>T p.G1182W Substitution - Missense 11:116857921-116857921 - 587376 COSM923386 c.2212C>A p.L738I Substitution - Missense 11:116862219-116862219 - CSCC-38-T COSM4488505 c.507C>T p.F169F Substitution - coding silent 11:116927328-116927328 - TCGA-D5-6540-01 COSM1351483 c.1980G>T p.L660L Substitution - coding silent 11:116863791-116863791 - TCGA-21-5786-01 COSM686247 c.3956G>T p.C1319F Substitution - Missense 11:116846550-116846550 - RK215_C01 COSM3738873 c.3528G>T p.L1176F Substitution - Missense 11:116857937-116857937 - LOVO COSM1676451 c.2635C>T p.R879C Substitution - Missense 11:116859395-116859395 - TCGA-60-2712-01 COSM686245 c.3503G>A p.G1168D Substitution - Missense 11:116857962-116857962 - SNUH_G16_S1 COSM3998243 c.3551C>G p.P1184R Substitution - Missense 11:116857914-116857914 - TCGA-DG-A2KK-01 COSM126924 c.3485C>G p.S1162* Substitution - Nonsense 11:116857980-116857980 - TCGA-BG-A0LX-01 COSM923378 c.4021T>C p.S1341P Substitution - Missense 11:116846485-116846485 - SNU-175 COSM2104327 c.3807C>T p.S1269S Substitution - coding silent 11:116849132-116849132 - TCGA-BR-8058-01 COSM4018097 c.2515G>A p.V839M Substitution - Missense 11:116859515-116859515 - PT41 COSM5924549 c.3952G>A p.E1318K Substitution - Missense 11:116847476-116847476 - TCGA-24-1551-01 COSM72646 c.1996C>T p.R666C Substitution - Missense 11:116863775-116863775 - DLBCL-PatientE COSM221297 c.1204C>T p.R402* Substitution - Nonsense 11:116875901-116875901 - Pat_41_B COSM5837858 c.2437T>A p.S813T Substitution - Missense 11:116859593-116859593 - H522 COSM1197062 c.324G>C p.K108N Substitution - Missense 11:116957014-116957014 - CHC097T COSM1351484 c.774C>T p.C258C Substitution - coding silent 11:116896344-116896344 - TCGA-36-2545-01 COSM1321901 c.2627C>A p.S876Y Substitution - Missense 11:116859403-116859403 - TCGA-EJ-7125-01 COSM3670667 c.3941G>T p.G1314V Substitution - Missense 11:116847487-116847487 - YUROS COSM5371723 c.3602C>T p.P1201L Substitution - Missense 11:116857863-116857863 - PD1583a COSM20749 c.2645C>G p.S882C Substitution - Missense 11:116859385-116859385 - TCGA-B5-A0JY-01 COSM923391 c.821G>A p.R274H Substitution - Missense 11:116896297-116896297 - 2521252 COSM4918809 c.3385C>T p.H1129Y Substitution - Missense 11:116858080-116858080 - TCGA-BR-6452-01 COSM923392 c.814C>T p.R272W Substitution - Missense 11:116896304-116896304 - CRC-03T COSM1676452 c.544C>T p.R182W Substitution - Missense 11:116927291-116927291 - PT42 COSM5925639 c.1324G>A p.G442R Substitution - Missense 11:116875261-116875261 - Pat_41_B COSM5837859 c.1636C>T p.L546F Substitution - Missense 11:116873582-116873582 - PTC-7C COSM4145346 c.2928C>G p.F976L Substitution - Missense 11:116858537-116858537 - TCGA-AA-3502-01 COSM1351486 c.547A>T p.N183Y Substitution - Missense 11:116927288-116927288 - TCGA-CG-5721-01 COSM4018088 c.4105G>A p.V1369M Substitution - Missense 11:116846401-116846401 - TCGA-66-2767-01 COSM686240 c.2394C>G p.P798P Substitution - coding silent 11:116861305-116861305 - TCGA-B5-A11E-01 COSM923389 c.1174C>A p.L392M Substitution - Missense 11:116875931-116875931 - CSCC-20-T COSM4447135 c.1873C>T p.P625S Substitution - Missense 11:116868025-116868025 - LS513 COSM2104396 c.1226C>A p.P409Q Substitution - Missense 11:116875879-116875879 - CSCC-55-T COSM4470889 c.2005C>T p.P669S Substitution - Missense 11:116863766-116863766 - TCGA-22-5473-01 COSM686243 c.2873C>T p.T958I Substitution - Missense 11:116858592-116858592 - TCGA-CG-5721-01 COSM4018092 c.3794C>T p.T1265M Substitution - Missense 11:116849145-116849145 - DLD1 COSM2104406 c.663C>T p.T221T Substitution - coding silent 11:116897271-116897271 - 2474090 COSM5880117 c.1192C>T p.P398S Substitution - Missense 11:116875913-116875913 - TCGA-B5-A0JY-01 COSM923386 c.2212C>A p.L738I Substitution - Missense 11:116862219-116862219 - SNU-C4 COSM4615426 c.3168_3170delACA p.Q1061delQ Deletion - In frame 11:116858295-116858297 - CHC892T COSM4961465 c.3226G>A p.G1076R Substitution - Missense 11:116858239-116858239 - TCGA-D1-A103-01 COSM923392 c.814C>T p.R272W Substitution - Missense 11:116896304-116896304 - CRC-24T COSM2104343 c.3224C>T p.A1075V Substitution - Missense 11:116858241-116858241 - NCI-H1770 COSM12907 c.2506C>T p.P836S Substitution - Missense 11:116859524-116859524 - B80-3 COSM1746053 c.340G>T p.V114F Substitution - Missense 11:116956998-116956998 - TCGA-BH-A201-01 COSM1475061 c.865+2T>C p.? Unknown 11:116896251-116896251 - 587342 COSM1225736 c.2991G>T p.Q997H Substitution - Missense 11:116858474-116858474 - YUSWI COSM1704585 c.2645C>T p.S882F Substitution - Missense 11:116859385-116859385 - sysucc-882T COSM4184641 c.215T>C p.I72T Substitution - Missense 11:117098201-117098201 - C0044T COSM4165658 c.2581G>C p.E861Q Substitution - Missense 11:116859449-116859449 - TCGA-D3-A2JF-06 COSM3443736 c.3077C>T p.S1026L Substitution - Missense 11:116858388-116858388 - CLL160 COSM1289479 c.1970C>G p.S657C Substitution - Missense 11:116863801-116863801 - PCSI_0136_Pa_X COSM3375658 c.2344C>A p.P782T Substitution - Missense 11:116861355-116861355 - HCC76T COSM1604139 c.3841G>A p.G1281R Substitution - Missense 11:116847587-116847587 - TCGA-AC-A23H-01 COSM3808420 c.292G>C p.D98H Substitution - Missense 11:116957046-116957046 - B90-Tumor COSM1746051 c.3421G>C p.E1141Q Substitution - Missense 11:116858044-116858044 - TCGA-EJ-5521-01 COSM1127902 c.808A>G p.N270D Substitution - Missense 11:116896310-116896310 - TCGA-HC-8266-01 COSM4392799 c.3106C>T p.P1036S Substitution - Missense 11:116858359-116858359 - Pat_41_B COSM5837857 c.3593G>A p.G1198E Substitution - Missense 11:116857872-116857872 - BB40T COSM33294 c.3626C>T p.A1209V Substitution - Missense 11:116857839-116857839 - LUAD-CHTN-MAD06-00668 COSM358609 c.3900C>T p.L1300L Substitution - coding silent 11:116847528-116847528 - TCGA-AN-A0XW-01 COSM428462 c.2266C>T p.Q756* Substitution - Nonsense 11:116861890-116861890 - T3262 COSM4726083 c.1574A>G p.E525G Substitution - Missense 11:116873910-116873910 - CSCC-62-T COSM4565920 c.3048_3049CC>TT p.L1017F Substitution - Missense 11:116858416-116858417 - HCC61 COSM1604140 c.1777G>A p.D593N Substitution - Missense 11:116870362-116870362 - TCGA-EJ-7125-01 COSM3670668 c.3881G>T p.R1294L Substitution - Missense 11:116847547-116847547 - TCGA-BR-7851-01 COSM4018096 c.2608C>T p.P870S Substitution - Missense 11:116859422-116859422 - TCGA-AP-A059-01 COSM923387 c.2112G>A p.E704E Substitution - coding silent 11:116862319-116862319 - sysucc-311T COSM5477431 c.712G>T p.E238* Substitution - Nonsense 11:116897222-116897222 - HCT15 COSM2104366 c.2216A>G p.Q739R Substitution - Missense 11:116862215-116862215 - TCGA-BR-8487-01 COSM4018105 c.224G>A p.G75D Substitution - Missense 11:117098192-117098192 - cSCCP8 COSM140675 c.1420G>T p.D474Y Substitution - Missense 11:116875165-116875165 - YUGOE COSM1704587 c.1069G>A p.G357R Substitution - Missense 11:116876279-116876279 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.167371;Hs.167405;Hs.167451 11q23.3 614776

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.691+6122T>G 11 116760847 HC A C Synonymous p.S1080S c.3240T>G 11 116728623 UCEC A G IntronicSNV . c.99+12031T>C 11 116956828 CLL A G Missense p.L425P c.1274T>C 11 116744752 LUSC A G Missense p.M298T c.893T>C 11 116746997 RCCC A G Missense p.S1235P c.3703T>C 11 116717201 UCEC A G SpliceDonorSNV . c.691+2T>C 11 116766967 BRCA A - IntronicDeletion . c.100-15delT 11 116827795 STAD - A IntronicInsertion . c.100-15dupT 11 116827795 ESCA A T IntronicSNV . c.100-66555T>A 11 116894335 CLL A T Missense p.D1207E c.3621T>A 11 116718205 STAD A T Missense p.I146K c.437T>A 11 116797940 HNSC - ATTTT IntronicInsertion . c.99+66615_99+66616insAAATA 11 116902244 CLL C A Missense p.C1213F c.3638G>T 11 116717266 LUSC C A Missense p.R247L c.740G>T 11 116747710 LUAD C A Nonsense p.E1090* c.3268G>T 11 116728595 CM C A Nonsense p.E1147* c.3439G>T 11 116719898 LUSC C A SpliceAcceptorSNV . c.281-1G>T 11 116798097 BRCA CC AA Missense p.R54L c.161_162delinsTT 11 116827718 CM CC TT Missense p.R918Q c.2753_2754delinsAA 11 116729109 CM CC TT SpliceAcceptorBlockSubstitution . c.2108_2109delinsAA 11 116730319 CM C G Missense p.G100R c.298G>C 11 116798079 CM C T IntronicSNV . c.99+21588G>A 11 116947271 CLL C T Missense p.A768T c.2302G>A 11 116730126 LUSC C T Missense p.D828N c.2482G>A 11 116729381 CM C T Missense p.E1090K c.3268G>A 11 116728595 HNSC C T Missense p.G1062D c.3185G>A 11 116728678 LUSC C T Missense p.R566Q c.1697G>A 11 116734472 UCEC C T Missense p.R685K c.2054G>A 11 116732043 GBM C T Missense p.R940K c.2819G>A 11 116729044 UCEC C T Missense p.V73I c.217G>A 11 116824823 CM C T Synonymous p.R69R c.207G>A 11 116827673 CM G A IntronicSNV . c.1634+34C>T 11 116741013 CM G A IntronicSNV . c.99+62220C>T 11 116906639 CM G A Missense p.L1194F c.3580C>T 11 116718246 BRCA G A Missense p.L649F c.1945C>T 11 116732609 UCEC G A Missense p.L683F c.2047C>T 11 116732050 CM G A Missense p.P1140S c.3418C>T 11 116719919 CM G A Missense p.P528S c.1582C>T 11 116741099 STAD G A Missense p.P824S c.2470C>T 11 116729393 CM G A Missense p.P858S c.2572C>T 11 116729291 CM G A Missense p.P917S c.2749C>T 11 116729114 UCEC G A Missense p.P930S c.2788C>T 11 116729075 PRAD G A Missense p.R560C c.1678C>T 11 116734491 OV G A Missense p.R773C c.2317C>T 11 116730111 HNSC G A Missense p.R789C c.2365C>T 11 116730063 ESCA G A Missense p.S838L c.2513C>T 11 116729350 PRAD G A Missense p.S887L c.2660C>T 11 116729203 CM G A Missense p.S920L c.2759C>T 11 116729104 CM G A Missense p.T852I c.2555C>T 11 116729308 LUSC G A Nonsense p.Q650* c.1948C>T 11 116732606 BRCA G A Nonsense p.Q665* c.1993C>T 11 116732561 CM G A Nonsense p.Q990* c.2968C>T 11 116728895 LUAD G A Nonsense p.R327* c.979C>T 11 116746668 CM G A Synonymous p.F1256F c.3768C>T 11 116717136 BRCA G A Synonymous p.F870F c.2610C>T 11 116729253 CM G A Synonymous p.G489G c.1467C>T 11 116744293 CM G A Synonymous p.I910I c.2730C>T 11 116729133 CM G A Synonymous p.L287L c.859C>T 11 116747031 CM G A Synonymous p.L632L c.1896C>T 11 116732933 CM G A Synonymous p.L836L c.2506C>T 11 116729357 CM G A Synonymous p.P930P c.2790C>T 11 116729073 CM G A Synonymous p.R216R c.648C>T 11 116767012 COREAD G A Synonymous p.R773R c.2319C>T 11 116730109 OV G A Synonymous p.S1144S c.3432C>T 11 116719905 CM G A Synonymous p.S1163S c.3489C>T 11 116719848 LGG G C Missense p.Q711E c.2131C>G 11 116730297 HNSC G C Missense p.Q879E c.2635C>G 11 116729228 HNSC G C Missense p.S546C c.1637C>G 11 116734532 LUSC G C Missense p.S551C c.1652C>G 11 116734517 CLL G C Nonsense p.S1056* c.3167C>G 11 116728696 HNSC G C Synonymous p.P687P c.2061C>G 11 116732036 CM G C Synonymous p.P692P c.2076C>G 11 116732021 LUSC G C Synonymous p.V22V c.66C>G 11 116968892 UCEC G T Missense p.P563T c.1687C>A 11 116734482 STAD G T Missense p.Q159K c.475C>A 11 116768001 COREAD T C IntronicSNV . c.99+26383A>G 11 116942476 CLL T C IntronicSNV . c.99+4154A>G 11 116964705 CLL T C Missense p.D139G c.416A>G 11 116797961 UCEC T C Missense p.H835R c.2504A>G 11 116729359 LUSC T C Missense p.N212D c.634A>G 11 116767026 PRAD T C Missense p.Q1260R c.3779A>G 11 116717125 UCEC T C Missense p.T852A c.2554A>G 11 116729309 PRAD T C Synonymous p.Q461Q c.1383A>G 11 116744643 STAD T G Missense p.L667F c.2001A>C 11 116732096 OV TTTATT - IntronicDeletion . c.99+66610_99+66615delAATAAA 11 116902244 CLL