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 8 131172197 131172197 + Missense_Mutation SNP C C T TCGA-OR-A5KT-01A-11D-A29I-10 TCGA-OR-A5KT-10A-01D-A29L-10 g.chr8:131172197C>T c.923G>A c.(922-924)cGg>cAg p.R308Q BLCA 8 131072893 131072893 + Missense_Mutation SNP C C G TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr8:131072893C>G c.3124G>C c.(3124-3126)Gaa>Caa p.E1042Q BLCA 8 131073251 131073251 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr8:131073251C>T c.2766G>A c.(2764-2766)caG>caA p.Q922Q BLCA 8 131124450 131124450 + Missense_Mutation SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr8:131124450C>T c.2291G>A c.(2290-2292)cGg>cAg p.R764Q BLCA 8 131127885 131127885 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr8:131127885G>C c.2161C>G c.(2161-2163)Ctg>Gtg p.L721V BLCA 8 131130435 131130435 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 g.chr8:131130435G>A c.1852C>T c.(1852-1854)Cat>Tat p.H618Y BLCA 8 131130913 131130913 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr8:131130913C>T c.1616G>A c.(1615-1617)cGa>cAa p.R539Q BLCA 8 131136308 131136308 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr8:131136308C>T c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K BLCA 8 131138243 131138243 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr8:131138243G>A c.1474C>T c.(1474-1476)Cag>Tag p.Q492* BLCA 8 131140337 131140337 + Splice_Site SNP C C T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr8:131140337C>T c.e16-1 BLCA 8 131172136 131172136 + Silent SNP C C T TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr8:131172136C>T c.984G>A c.(982-984)aaG>aaA p.K328K BLCA 8 131172191 131172191 + Missense_Mutation SNP C C G TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr8:131172191C>G c.929G>C c.(928-930)gGa>gCa p.G310A BLCA 8 131181295 131181295 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr8:131181295C>G c.765G>C c.(763-765)ttG>ttC p.L255F BLCA 8 131193031 131193031 + Frame_Shift_Del DEL T T - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr8:131193031delT c.626delA c.(625-627)aagfs p.K209fs BLCA 8 131200403 131200403 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr8:131200403G>A c.432C>T c.(430-432)atC>atT p.I144I BLCA 8 131414176 131414176 + Missense_Mutation SNP G G A TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr8:131414176G>A c.14C>T c.(13-15)gCc>gTc p.A5V BRCA 8 131088594 131088594 + Splice_Site SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr8:131088594C>T c.2701G>A c.(2701-2703)Gtg>Atg p.V901M BRCA 8 131124376 131124376 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:131124376C>T c.2365G>A c.(2365-2367)Gag>Aag p.E789K BRCA 8 131130824 131130824 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr8:131130824C>T c.1705G>A c.(1705-1707)Gag>Aag p.E569K BRCA 8 131140243 131140243 + Silent SNP C C G TCGA-AO-A0J4-01A-11W-A050-09 TCGA-AO-A0J4-10A-01W-A055-09 g.chr8:131140243C>G c.1311G>C c.(1309-1311)ctG>ctC p.L437L BRCA 8 131149217 131149217 + Missense_Mutation SNP T T C TCGA-LQ-A4E4-01A-11D-A25Q-09 TCGA-LQ-A4E4-10A-01D-A25Q-09 g.chr8:131149217T>C c.1148A>G c.(1147-1149)aAa>aGa p.K383R BRCA 8 131172126 131172126 + Silent SNP G G A TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr8:131172126G>A c.994C>T c.(994-996)Cta>Tta p.L332L BRCA 8 131179788 131179788 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr8:131179788C>T c.903G>A c.(901-903)caG>caA p.Q301Q BRCA 8 131191529 131191529 + Missense_Mutation SNP A A C TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr8:131191529A>C c.727T>G c.(727-729)Tat>Gat p.Y243D BRCA 8 131199523 131199523 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:131199523C>G c.489G>C c.(487-489)aaG>aaC p.K163N BRCA 8 131226804 131226804 + Missense_Mutation SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 g.chr8:131226804G>C c.403C>G c.(403-405)Ctg>Gtg p.L135V CESC 8 131073096 131073096 + Missense_Mutation SNP T T C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr8:131073096T>C c.2921A>G c.(2920-2922)aAa>aGa p.K974R CESC 8 131088615 131088615 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr8:131088615G>A c.2680C>T c.(2680-2682)Ctt>Ttt p.L894F CESC 8 131127903 131127903 + Missense_Mutation SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 g.chr8:131127903C>G c.2143G>C c.(2143-2145)Gat>Cat p.D715H CESC 8 131128932 131128932 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr8:131128932C>T c.2056G>A c.(2056-2058)Gaa>Aaa p.E686K CESC 8 131200418 131200418 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr8:131200418C>T c.417G>A c.(415-417)ttG>ttA p.L139L CESC 8 131249237 131249237 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr8:131249237G>A c.190C>T c.(190-192)Cta>Tta p.L64L CHOL 8 131070296 131070296 + Missense_Mutation SNP C C A TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr8:131070296C>A c.3219G>T c.(3217-3219)aaG>aaT p.K1073N COAD 8 131072873 131072873 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr8:131072873C>T c.3144G>A c.(3142-3144)acG>acA p.T1048T COAD 8 131072913 131072913 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:131072913G>A c.3104C>T c.(3103-3105)gCc>gTc p.A1035V COAD 8 131073083 131073083 + Silent SNP T T C TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr8:131073083T>C c.2934A>G c.(2932-2934)tcA>tcG p.S978S COAD 8 131073149 131073149 + Silent SNP C C T TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr8:131073149C>T c.2868G>A c.(2866-2868)ccG>ccA p.P956P COAD 8 131073206 131073206 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr8:131073206T>C c.2811A>G c.(2809-2811)ggA>ggG p.G937G COAD 8 131092165 131092165 + Silent SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:131092165T>C c.2625A>G c.(2623-2625)ggA>ggG p.G875G COAD 8 131104265 131104265 + Silent SNP G G T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr8:131104265G>T c.2526C>A c.(2524-2526)ccC>ccA p.P842P COAD 8 131124346 131124346 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr8:131124346C>T c.2395G>A c.(2395-2397)Ggg>Agg p.G799R COAD 8 131127886 131127886 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr8:131127886A>G c.2160T>C c.(2158-2160)gaT>gaC p.D720D COAD 8 131127886 131127886 + Silent SNP A A G TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr8:131127886A>G c.2160T>C c.(2158-2160)gaT>gaC p.D720D COAD 8 131127887 131127887 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr8:131127887T>C c.2159A>G c.(2158-2160)gAt>gGt p.D720G COAD 8 131127918 131127918 + Nonsense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:131127918G>A c.2128C>T c.(2128-2130)Cga>Tga p.R710* COAD 8 131127946 131127946 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:131127946G>A c.2100C>T c.(2098-2100)caC>caT p.H700H COAD 8 131127973 131127973 + Missense_Mutation SNP C C G TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr8:131127973C>G c.2073G>C c.(2071-2073)caG>caC p.Q691H COAD 8 131136311 131136311 + Missense_Mutation SNP T T C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr8:131136311T>C c.1555A>G c.(1555-1557)Atg>Gtg p.M519V COAD 8 131140327 131140327 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr8:131140327T>C c.1227A>G c.(1225-1227)tcA>tcG p.S409S COAD 8 131172111 131172111 + Splice_Site SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:131172111C>T c.1009G>A c.(1009-1011)Ggg>Agg p.G337R COAD 8 131179788 131179788 + Missense_Mutation SNP C C G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr8:131179788C>G c.903G>C c.(901-903)caG>caC p.Q301H COAD 8 131179811 131179811 + Nonsense_Mutation SNP T T A TCGA-AA-3538-01A-01W-0831-10 TCGA-AA-3538-10A-01W-0831-10 g.chr8:131179811T>A c.880A>T c.(880-882)Aaa>Taa p.K294* COAD 8 131249233 131249233 + Missense_Mutation SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr8:131249233T>C c.194A>G c.(193-195)gAc>gGc p.D65G COAD 8 131370358 131370358 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr8:131370358T>C c.91A>G c.(91-93)Atc>Gtc p.I31V COAD 8 131370359 131370359 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:131370359G>T c.90C>A c.(88-90)ttC>ttA p.F30L COAD 8 131414152 131414152 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:131414152G>A c.38C>T c.(37-39)tCg>tTg p.S13L COADREAD 8 131070229 131070229 + Missense_Mutation SNP C C T TCGA-AG-A01L-01A-01W-A00K-09 TCGA-AG-A01L-10A-01W-A00L-09 g.chr8:131070229C>T c.3286G>A c.(3286-3288)Gtc>Atc p.V1096I COADREAD 8 131072873 131072873 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr8:131072873C>T c.3144G>A c.(3142-3144)acG>acA p.T1048T COADREAD 8 131072913 131072913 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr8:131072913G>A c.3104C>T c.(3103-3105)gCc>gTc p.A1035V COADREAD 8 131073083 131073083 + Silent SNP T T C TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr8:131073083T>C c.2934A>G c.(2932-2934)tcA>tcG p.S978S COADREAD 8 131073086 131073086 + Silent SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr8:131073086G>T c.2931C>A c.(2929-2931)ctC>ctA p.L977L COADREAD 8 131073149 131073149 + Silent SNP C C T TCGA-AA-3860-01A-02W-0900-09 TCGA-AA-3860-10A-01W-0902-09 g.chr8:131073149C>T c.2868G>A c.(2866-2868)ccG>ccA p.P956P COADREAD 8 131073206 131073206 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr8:131073206T>C c.2811A>G c.(2809-2811)ggA>ggG p.G937G COADREAD 8 131092165 131092165 + Silent SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:131092165T>C c.2625A>G c.(2623-2625)ggA>ggG p.G875G COADREAD 8 131104265 131104265 + Silent SNP G G T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr8:131104265G>T c.2526C>A c.(2524-2526)ccC>ccA p.P842P COADREAD 8 131104311 131104311 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:131104311G>T c.2480C>A c.(2479-2481)cCt>cAt p.P827H COADREAD 8 131124346 131124346 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr8:131124346C>T c.2395G>A c.(2395-2397)Ggg>Agg p.G799R COADREAD 8 131124416 131124416 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:131124416G>A c.2325C>T c.(2323-2325)ttC>ttT p.F775F COADREAD 8 131127886 131127886 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr8:131127886A>G c.2160T>C c.(2158-2160)gaT>gaC p.D720D COADREAD 8 131127886 131127886 + Silent SNP A A G TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr8:131127886A>G c.2160T>C c.(2158-2160)gaT>gaC p.D720D COADREAD 8 131127886 131127886 + Silent SNP A A G TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr8:131127886A>G c.2160T>C c.(2158-2160)gaT>gaC p.D720D COADREAD 8 131127887 131127887 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr8:131127887T>C c.2159A>G c.(2158-2160)gAt>gGt p.D720G COADREAD 8 131127918 131127918 + Nonsense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:131127918G>A c.2128C>T c.(2128-2130)Cga>Tga p.R710* COADREAD 8 131127946 131127946 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:131127946G>A c.2100C>T c.(2098-2100)caC>caT p.H700H COADREAD 8 131127973 131127973 + Missense_Mutation SNP C C G TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr8:131127973C>G c.2073G>C c.(2071-2073)caG>caC p.Q691H COADREAD 8 131136311 131136311 + Missense_Mutation SNP T T C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr8:131136311T>C c.1555A>G c.(1555-1557)Atg>Gtg p.M519V COADREAD 8 131140327 131140327 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr8:131140327T>C c.1227A>G c.(1225-1227)tcA>tcG p.S409S COADREAD 8 131172111 131172111 + Splice_Site SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:131172111C>T c.1009G>A c.(1009-1011)Ggg>Agg p.G337R COADREAD 8 131179788 131179788 + Missense_Mutation SNP C C G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr8:131179788C>G c.903G>C c.(901-903)caG>caC p.Q301H COADREAD 8 131179811 131179811 + Nonsense_Mutation SNP T T A TCGA-AA-3538-01A-01W-0831-10 TCGA-AA-3538-10A-01W-0831-10 g.chr8:131179811T>A c.880A>T c.(880-882)Aaa>Taa p.K294* COADREAD 8 131226912 131226912 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:131226912G>T c.295C>A c.(295-297)Ctt>Att p.L99I COADREAD 8 131249233 131249233 + Missense_Mutation SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr8:131249233T>C c.194A>G c.(193-195)gAc>gGc p.D65G COADREAD 8 131370358 131370358 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr8:131370358T>C c.91A>G c.(91-93)Atc>Gtc p.I31V COADREAD 8 131370359 131370359 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:131370359G>T c.90C>A c.(88-90)ttC>ttA p.F30L COADREAD 8 131414152 131414152 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:131414152G>A c.38C>T c.(37-39)tCg>tTg p.S13L ESCA 8 131191524 131191524 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr8:131191524G>T c.732C>A c.(730-732)taC>taA p.Y244* ESCA 8 131199511 131199511 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr8:131199511G>T c.501C>A c.(499-501)gaC>gaA p.D167E ESCA 8 131370359 131370359 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr8:131370359G>T c.90C>A c.(88-90)ttC>ttA p.F30L ESCA 8 131414169 131414169 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr8:131414169C>G c.21G>C c.(19-21)agG>agC p.R7S GBM 8 131124496 131124496 + Missense_Mutation SNP C C G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr8:131124496C>G c.2245G>C c.(2245-2247)Gac>Cac p.D749H GBM 8 131140283 131140283 + Missense_Mutation SNP C C T TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr8:131140283C>T c.1271G>A c.(1270-1272)cGt>cAt p.R424H GBM 8 131414154 131414154 + Silent SNP C C A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr8:131414154C>A c.36G>T c.(34-36)tcG>tcT p.S12S GBMLGG 8 131104362 131104362 + Missense_Mutation SNP G G C TCGA-RY-A843-01A-11D-A36O-08 TCGA-RY-A843-10A-01D-A367-08 g.chr8:131104362G>C c.2429C>G c.(2428-2430)cCt>cGt p.P810R GBMLGG 8 131124478 131124478 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:131124478C>A c.2263G>T c.(2263-2265)Gga>Tga p.G755* GBMLGG 8 131124496 131124496 + Missense_Mutation SNP C C G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr8:131124496C>G c.2245G>C c.(2245-2247)Gac>Cac p.D749H GBMLGG 8 131127907 131127907 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 g.chr8:131127907C>G c.2139G>C c.(2137-2139)gaG>gaC p.E713D GBMLGG 8 131140283 131140283 + Missense_Mutation SNP C C T TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr8:131140283C>T c.1271G>A c.(1270-1272)cGt>cAt p.R424H GBMLGG 8 131149272 131149272 + Missense_Mutation SNP G G T TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr8:131149272G>T c.1093C>A c.(1093-1095)Cca>Aca p.P365T GBMLGG 8 131191542 131191542 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:131191542C>T c.714G>A c.(712-714)caG>caA p.Q238Q GBMLGG 8 131370312 131370312 + Missense_Mutation SNP A A C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr8:131370312A>C c.137T>G c.(136-138)tTc>tGc p.F46C GBMLGG 8 131414154 131414154 + Silent SNP C C A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr8:131414154C>A c.36G>T c.(34-36)tcG>tcT p.S12S HNSC 8 131070203 131070203 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr8:131070203C>A c.3312G>T c.(3310-3312)tgG>tgT p.W1104C HNSC 8 131073299 131073299 + Silent SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr8:131073299T>C c.2718A>G c.(2716-2718)acA>acG p.T906T HNSC 8 131127878 131127878 + Missense_Mutation SNP T T A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 g.chr8:131127878T>A c.2168A>T c.(2167-2169)gAc>gTc p.D723V HNSC 8 131127917 131127917 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr8:131127917C>T c.2129G>A c.(2128-2130)cGa>cAa p.R710Q HNSC 8 131127924 131127924 + Missense_Mutation SNP T T C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 g.chr8:131127924T>C c.2122A>G c.(2122-2124)Aat>Gat p.N708D HNSC 8 131129204 131129204 + Missense_Mutation SNP C C A TCGA-DQ-5624-01A-01D-1870-08 TCGA-DQ-5624-10A-01D-1870-08 g.chr8:131129204C>A c.1918G>T c.(1918-1920)Gtt>Ttt p.V640F HNSC 8 131130412 131130412 + Missense_Mutation SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 g.chr8:131130412T>G c.1875A>C c.(1873-1875)caA>caC p.Q625H HNSC 8 131130883 131130883 + Missense_Mutation SNP T T G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 g.chr8:131130883T>G c.1646A>C c.(1645-1647)gAt>gCt p.D549A HNSC 8 131149240 131149240 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:131149240T>C c.1125A>G c.(1123-1125)gtA>gtG p.V375V HNSC 8 131172131 131172131 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr8:131172131T>A c.989A>T c.(988-990)tAc>tTc p.Y330F HNSC 8 131172152 131172152 + Missense_Mutation SNP T T C TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr8:131172152T>C c.968A>G c.(967-969)tAt>tGt p.Y323C HNSC 8 131181242 131181242 + Missense_Mutation SNP T T C TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr8:131181242T>C c.818A>G c.(817-819)tAt>tGt p.Y273C HNSC 8 131249206 131249206 + Missense_Mutation SNP A A T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 g.chr8:131249206A>T c.221T>A c.(220-222)gTg>gAg p.V74E KIPAN 8 131073178 131073179 + Missense_Mutation DNP CC CC GG TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr8:131073178_131073179CC>GG c.2838_2839GG>CC c.(2836-2841)ctGGcc>ctCCcc p.A947P KIPAN 8 131127939 131127939 + Missense_Mutation SNP C C T TCGA-AK-3440-01A-01D-0966-08 TCGA-AK-3440-10A-01D-0966-08 g.chr8:131127939C>T c.2107G>A c.(2107-2109)Gta>Ata p.V703I KIPAN 8 131130417 131130417 + Missense_Mutation SNP C C A TCGA-BP-4326-01A-01D-1366-10 TCGA-BP-4326-11A-01D-1366-10 g.chr8:131130417C>A c.1870G>T c.(1870-1872)Gta>Tta p.V624L KIPAN 8 131136342 131136342 + Missense_Mutation SNP C C G TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr8:131136342C>G c.1524G>C c.(1522-1524)aaG>aaC p.K508N KIRC 8 131073178 131073179 + Missense_Mutation DNP CC CC GG TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr8:131073178_131073179CC>GG c.2838_2839GG>CC c.(2836-2841)ctGGcc>ctCCcc p.A947P KIRC 8 131127939 131127939 + Missense_Mutation SNP C C T TCGA-AK-3440-01A-01D-0966-08 TCGA-AK-3440-10A-01D-0966-08 g.chr8:131127939C>T c.2107G>A c.(2107-2109)Gta>Ata p.V703I KIRC 8 131130417 131130417 + Missense_Mutation SNP C C A TCGA-BP-4326-01A-01D-1366-10 TCGA-BP-4326-11A-01D-1366-10 g.chr8:131130417C>A c.1870G>T c.(1870-1872)Gta>Tta p.V624L KIRC 8 131136342 131136342 + Missense_Mutation SNP C C G TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr8:131136342C>G c.1524G>C c.(1522-1524)aaG>aaC p.K508N LGG 8 131104362 131104362 + Missense_Mutation SNP G G C TCGA-RY-A843-01A-11D-A36O-08 TCGA-RY-A843-10A-01D-A367-08 g.chr8:131104362G>C c.2429C>G c.(2428-2430)cCt>cGt p.P810R LGG 8 131124478 131124478 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:131124478C>A c.2263G>T c.(2263-2265)Gga>Tga p.G755* LGG 8 131127907 131127907 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 g.chr8:131127907C>G c.2139G>C c.(2137-2139)gaG>gaC p.E713D LGG 8 131149272 131149272 + Missense_Mutation SNP G G T TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr8:131149272G>T c.1093C>A c.(1093-1095)Cca>Aca p.P365T LGG 8 131191542 131191542 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:131191542C>T c.714G>A c.(712-714)caG>caA p.Q238Q LGG 8 131370312 131370312 + Missense_Mutation SNP A A C TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr8:131370312A>C c.137T>G c.(136-138)tTc>tGc p.F46C LIHC 8 131104271 131104271 + Missense_Mutation SNP G G T TCGA-FV-A496-01A-11D-A25V-10 TCGA-FV-A496-10A-01D-A25V-10 g.chr8:131104271G>T c.2520C>A c.(2518-2520)gaC>gaA p.D840E LIHC 8 131130809 131130809 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr8:131130809T>A c.1720A>T c.(1720-1722)Agg>Tgg p.R574W LIHC 8 131130888 131130888 + Silent SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr8:131130888A>G c.1641T>C c.(1639-1641)taT>taC p.Y547Y LIHC 8 131146576 131146576 + Missense_Mutation SNP G G A TCGA-ZP-A9CV-01A-11D-A382-10 TCGA-ZP-A9CV-10B-01D-A385-10 g.chr8:131146576G>A c.1183C>T c.(1183-1185)Cac>Tac p.H395Y LIHC 8 131164981 131164981 + Splice_Site SNP C C T TCGA-CC-5258-01A-01D-A12Z-10 TCGA-CC-5258-10A-01D-A12Z-10 g.chr8:131164981C>T c.e13+1 LIHC 8 131181257 131181257 + Missense_Mutation SNP A A C TCGA-BW-A5NP-01A-11D-A27I-10 TCGA-BW-A5NP-10A-01D-A27I-10 g.chr8:131181257A>C c.803T>G c.(802-804)cTg>cGg p.L268R LUAD 8 131070229 131070229 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr8:131070229C>A c.3286G>T c.(3286-3288)Gtc>Ttc p.V1096F LUAD 8 131072883 131072883 + Missense_Mutation SNP T T C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr8:131072883T>C c.3134A>G c.(3133-3135)aAc>aGc p.N1045S LUAD 8 131073028 131073028 + Missense_Mutation SNP C C A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr8:131073028C>A c.2989G>T c.(2989-2991)Gac>Tac p.D997Y LUAD 8 131073091 131073091 + Nonsense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr8:131073091G>A c.2926C>T c.(2926-2928)Caa>Taa p.Q976* LUAD 8 131073151 131073151 + Missense_Mutation SNP G G A TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr8:131073151G>A c.2866C>T c.(2866-2868)Ccg>Tcg p.P956S LUAD 8 131073179 131073179 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr8:131073179C>A c.2838G>T c.(2836-2838)ctG>ctT p.L946L LUAD 8 131073214 131073214 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr8:131073214G>C c.2803C>G c.(2803-2805)Cca>Gca p.P935A LUAD 8 131092212 131092212 + Missense_Mutation SNP C C A TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr8:131092212C>A c.2578G>T c.(2578-2580)Gat>Tat p.D860Y LUAD 8 131104220 131104220 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr8:131104220C>A c.2571G>T c.(2569-2571)tgG>tgT p.W857C LUAD 8 131104234 131104234 + Missense_Mutation SNP C C A TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr8:131104234C>A c.2557G>T c.(2557-2559)Ggc>Tgc p.G853C LUAD 8 131128984 131128984 + Silent SNP C C T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr8:131128984C>T c.2004G>A c.(2002-2004)caG>caA p.Q668Q LUAD 8 131130772 131130772 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr8:131130772C>T c.1757G>A c.(1756-1758)gGg>gAg p.G586E LUAD 8 131130783 131130783 + Silent SNP G G C TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr8:131130783G>C c.1746C>G c.(1744-1746)gtC>gtG p.V582V LUAD 8 131130876 131130876 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr8:131130876C>A c.1653G>T c.(1651-1653)agG>agT p.R551S LUAD 8 131130904 131130904 + Missense_Mutation SNP T T C TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr8:131130904T>C c.1625A>G c.(1624-1626)tAt>tGt p.Y542C LUAD 8 131130908 131130908 + Nonsense_Mutation SNP C C A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr8:131130908C>A c.1621G>T c.(1621-1623)Gaa>Taa p.E541* LUAD 8 131136347 131136347 + Missense_Mutation SNP C C G TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr8:131136347C>G c.1519G>C c.(1519-1521)Gcc>Ccc p.A507P LUAD 8 131138201 131138201 + Splice_Site SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr8:131138201C>A c.e17+1 LUAD 8 131140239 131140239 + Missense_Mutation SNP T T C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr8:131140239T>C c.1315A>G c.(1315-1317)Aaa>Gaa p.K439E LUAD 8 131193083 131193083 + Missense_Mutation SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr8:131193083C>A c.574G>T c.(574-576)Ggg>Tgg p.G192W LUAD 8 131199494 131199494 + Missense_Mutation SNP T T C TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr8:131199494T>C c.518A>G c.(517-519)tAt>tGt p.Y173C LUAD 8 131200412 131200412 + Silent SNP G G A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr8:131200412G>A c.423C>T c.(421-423)caC>caT p.H141H LUAD 8 131226829 131226829 + Silent SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chr8:131226829C>T c.378G>A c.(376-378)aaG>aaA p.K126K LUAD 8 131414146 131414146 + Missense_Mutation SNP T T C TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr8:131414146T>C c.44A>G c.(43-45)gAt>gGt p.D15G LUAD 8 131414157 131414157 + Missense_Mutation SNP A A T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr8:131414157A>T c.33T>A c.(31-33)ttT>ttA p.F11L LUAD 8 131414163 131414163 + Silent SNP G G T TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr8:131414163G>T c.27C>A c.(25-27)tcC>tcA p.S9S LUAD 8 131414164 131414164 + Missense_Mutation SNP G G T TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr8:131414164G>T c.26C>A c.(25-27)tCc>tAc p.S9Y LUSC 8 131130450 131130450 + Missense_Mutation SNP C C A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr8:131130450C>A c.1837G>T c.(1837-1839)Gat>Tat p.D613Y LUSC 8 131130758 131130758 + Nonsense_Mutation SNP C C A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr8:131130758C>A c.1771G>T c.(1771-1773)Gaa>Taa p.E591* LUSC 8 131136311 131136311 + Missense_Mutation SNP T T C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr8:131136311T>C c.1555A>G c.(1555-1557)Atg>Gtg p.M519V LUSC 8 131136348 131136348 + Silent SNP C C A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr8:131136348C>A c.1518G>T c.(1516-1518)ctG>ctT p.L506L LUSC 8 131146584 131146584 + Missense_Mutation SNP C C G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr8:131146584C>G c.1175G>C c.(1174-1176)aGa>aCa p.R392T LUSC 8 131226848 131226848 + Missense_Mutation SNP T T G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr8:131226848T>G c.359A>C c.(358-360)aAg>aCg p.K120T OV 8 131073023 131073023 + Silent SNP C C G TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 g.chr8:131073023C>G c.2994G>C c.(2992-2994)ctG>ctC p.L998L OV 8 131073206 131073206 + Silent SNP T T C TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 g.chr8:131073206T>C c.2811A>G c.(2809-2811)ggA>ggG p.G937G OV 8 131124344 131124344 + Silent SNP C C G TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 g.chr8:131124344C>G c.2397G>C c.(2395-2397)ggG>ggC p.G799G OV 8 131127887 131127887 + Missense_Mutation SNP T T C TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chr8:131127887T>C c.2159A>G c.(2158-2160)gAt>gGt p.D720G OV 8 131165027 131165027 + Missense_Mutation SNP C C A TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 g.chr8:131165027C>A c.1035G>T c.(1033-1035)agG>agT p.R345S OV 8 131181276 131181276 + Nonsense_Mutation SNP T T A TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 g.chr8:131181276T>A c.784A>T c.(784-786)Aaa>Taa p.K262* PAAD 8 131146542 131146542 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:131146542G>A c.1217C>T c.(1216-1218)gCa>gTa p.A406V PRAD 8 131073151 131073151 + Missense_Mutation SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 g.chr8:131073151G>A c.2866C>T c.(2866-2868)Ccg>Tcg p.P956S PRAD 8 131073267 131073267 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr8:131073267G>A c.2750C>T c.(2749-2751)cCg>cTg p.P917L PRAD 8 131092213 131092213 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:131092213G>A c.2577C>T c.(2575-2577)aaC>aaT p.N859N PRAD 8 131130463 131130463 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 g.chr8:131130463G>A c.1824C>T c.(1822-1824)gcC>gcT p.A608A PRAD 8 131136321 131136321 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:131136321A>G c.1545T>C c.(1543-1545)ttT>ttC p.F515F PRAD 8 131140295 131140295 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:131140295G>A c.1259C>T c.(1258-1260)aCc>aTc p.T420I PRAD 8 131249205 131249205 + Silent SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr8:131249205C>G c.222G>C c.(220-222)gtG>gtC p.V74V READ 8 131070229 131070229 + Missense_Mutation SNP C C T TCGA-AG-A01L-01A-01W-A00K-09 TCGA-AG-A01L-10A-01W-A00L-09 g.chr8:131070229C>T c.3286G>A c.(3286-3288)Gtc>Atc p.V1096I READ 8 131073086 131073086 + Silent SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr8:131073086G>T c.2931C>A c.(2929-2931)ctC>ctA p.L977L READ 8 131104311 131104311 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:131104311G>T c.2480C>A c.(2479-2481)cCt>cAt p.P827H READ 8 131124416 131124416 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:131124416G>A c.2325C>T c.(2323-2325)ttC>ttT p.F775F READ 8 131127886 131127886 + Silent SNP A A G TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr8:131127886A>G c.2160T>C c.(2158-2160)gaT>gaC p.D720D READ 8 131226912 131226912 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:131226912G>T c.295C>A c.(295-297)Ctt>Att p.L99I SARC 8 131129212 131129212 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr8:131129212C>T c.1910G>A c.(1909-1911)gGa>gAa p.G637E SARC 8 131149206 131149206 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 g.chr8:131149206G>T c.1159C>A c.(1159-1161)Ctg>Atg p.L387M SKCM 8 131072886 131072886 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:131072886G>A c.3131C>T c.(3130-3132)tCc>tTc p.S1044F SKCM 8 131073123 131073123 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr8:131073123T>G c.2894A>C c.(2893-2895)aAa>aCa p.K965T SKCM 8 131104224 131104224 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr8:131104224G>A c.2567C>T c.(2566-2568)cCt>cTt p.P856L SKCM 8 131104255 131104255 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr8:131104255G>A c.2536C>T c.(2536-2538)Cct>Tct p.P846S SKCM 8 131104275 131104275 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr8:131104275G>A c.2516C>T c.(2515-2517)tCc>tTc p.S839F SKCM 8 131104305 131104305 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr8:131104305G>A c.2486C>T c.(2485-2487)cCc>cTc p.P829L SKCM 8 131104327 131104327 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr8:131104327G>A c.2464C>T c.(2464-2466)Cta>Tta p.L822L SKCM 8 131124416 131124416 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr8:131124416G>A c.2325C>T c.(2323-2325)ttC>ttT p.F775F SKCM 8 131127951 131127951 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr8:131127951G>A c.2095C>T c.(2095-2097)Cca>Tca p.P699S SKCM 8 131138245 131138245 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr8:131138245A>T c.1472T>A c.(1471-1473)aTt>aAt p.I491N SKCM 8 131140257 131140257 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr8:131140257T>A c.1297A>T c.(1297-1299)Agc>Tgc p.S433C SKCM 8 131179807 131179807 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr8:131179807G>A c.884C>T c.(883-885)tCc>tTc p.S295F

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 8 131127976 131127976 single base substitution G C 3_prime_UTR_variant BLCA-CN 8 131127976 131127976 single base substitution G C exon_variant BLCA-CN 8 131127976 131127976 single base substitution G C synonymous_variant S103S 309C>G BLCA-CN 8 131127976 131127976 single base substitution G C synonymous_variant S510S 1530C>G BLCA-CN 8 131127976 131127976 single base substitution G C synonymous_variant S690S 2070C>G BLCA-CN 8 131127976 131127976 single base substitution G C upstream_gene_variant BLCA-US 8 131073251 131073251 single base substitution C T 3_prime_UTR_variant BLCA-US 8 131073251 131073251 single base substitution C T synonymous_variant Q278Q 834G>A BLCA-US 8 131073251 131073251 single base substitution C T synonymous_variant Q742Q 2226G>A BLCA-US 8 131073251 131073251 single base substitution C T synonymous_variant Q922Q 2766G>A BLCA-US 8 131130435 131130435 single base substitution G A 3_prime_UTR_variant BLCA-US 8 131130435 131130435 single base substitution G A exon_variant BLCA-US 8 131130435 131130435 single base substitution G A missense_variant H31Y 91C>T BLCA-US 8 131130435 131130435 single base substitution G A missense_variant H438Y 1312C>T BLCA-US 8 131130435 131130435 single base substitution G A missense_variant H618Y 1852C>T BLCA-US 8 131138243 131138243 single base substitution G A 3_prime_UTR_variant BLCA-US 8 131138243 131138243 single base substitution G A stop_gained Q312* 934C>T BLCA-US 8 131138243 131138243 single base substitution G A stop_gained Q492* 1474C>T BLCA-US 8 131140337 131140337 single base substitution C T splice_acceptor_variant BLCA-US 8 131200403 131200403 single base substitution G A 3_prime_UTR_variant BLCA-US 8 131200403 131200403 single base substitution G A 5_prime_UTR_variant BLCA-US 8 131200403 131200403 single base substitution G A exon_variant BLCA-US 8 131200403 131200403 single base substitution G A synonymous_variant I114I 342C>T BLCA-US 8 131200403 131200403 single base substitution G A synonymous_variant I144I 432C>T BOCA-FR 8 131124547 131124547 single base substitution G A 3_prime_UTR_variant BOCA-FR 8 131124547 131124547 single base substitution G A downstream_gene_variant BOCA-FR 8 131124547 131124547 single base substitution G A exon_variant BOCA-FR 8 131124547 131124547 single base substitution G A missense_variant R145C 433C>T BOCA-FR 8 131124547 131124547 single base substitution G A missense_variant R552C 1654C>T BOCA-FR 8 131124547 131124547 single base substitution G A missense_variant R732C 2194C>T BOCA-FR 8 131223589 131223589 single base substitution C T downstream_gene_variant BOCA-FR 8 131223589 131223589 single base substitution C T intron_variant BOCA-FR 8 131298729 131298729 single base substitution A T intron_variant BOCA-FR 8 131313493 131313493 single base substitution T A intron_variant BOCA-FR 8 131352482 131352482 single base substitution C T intron_variant BRCA-EU 8 131059592 131059592 single base substitution G A downstream_gene_variant BRCA-EU 8 131059798 131059798 single base substitution C G downstream_gene_variant BRCA-EU 8 131061960 131061960 single base substitution G A downstream_gene_variant BRCA-EU 8 131062993 131062993 single base substitution C G downstream_gene_variant BRCA-EU 8 131063471 131063471 single base substitution C G downstream_gene_variant BRCA-EU 8 131063560 131063560 single base substitution C T downstream_gene_variant BRCA-EU 8 131064453 131064453 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 131064453 131064453 single base substitution G A downstream_gene_variant BRCA-EU 8 131067190 131067190 single base substitution A G intron_variant BRCA-EU 8 131067635 131067635 single base substitution T A intron_variant BRCA-EU 8 131068118 131068124 deletion of <=200bp GCGTGTG - intron_variant BRCA-EU 8 131069192 131069192 single base substitution G C intron_variant BRCA-EU 8 131070487 131070487 single base substitution C A intron_variant BRCA-EU 8 131070646 131070646 single base substitution C T intron_variant BRCA-EU 8 131070849 131070849 single base substitution G A intron_variant BRCA-EU 8 131072179 131072179 deletion of <=200bp G - intron_variant BRCA-EU 8 131072695 131072695 single base substitution G C intron_variant BRCA-EU 8 131073059 131073059 single base substitution C A 3_prime_UTR_variant BRCA-EU 8 131073059 131073059 single base substitution C A missense_variant M342I 1026G>T BRCA-EU 8 131073059 131073059 single base substitution C A missense_variant M806I 2418G>T BRCA-EU 8 131073059 131073059 single base substitution C A missense_variant M986I 2958G>T BRCA-EU 8 131073799 131073799 single base substitution C G intron_variant BRCA-EU 8 131074645 131074645 single base substitution C G intron_variant BRCA-EU 8 131075206 131075206 single base substitution G A intron_variant BRCA-EU 8 131076262 131076262 single base substitution C T intron_variant BRCA-EU 8 131077662 131077662 single base substitution C G intron_variant BRCA-EU 8 131077900 131077900 single base substitution C T intron_variant BRCA-EU 8 131077938 131077938 single base substitution C G intron_variant BRCA-EU 8 131078860 131078860 single base substitution C T intron_variant BRCA-EU 8 131078862 131078862 single base substitution T C intron_variant BRCA-EU 8 131080149 131080149 single base substitution C G intron_variant BRCA-EU 8 131081585 131081585 single base substitution A T intron_variant BRCA-EU 8 131083938 131083938 single base substitution G C downstream_gene_variant BRCA-EU 8 131083938 131083938 single base substitution G C intron_variant BRCA-EU 8 131085652 131085652 deletion of <=200bp C - downstream_gene_variant BRCA-EU 8 131085652 131085652 deletion of <=200bp C - intron_variant BRCA-EU 8 131086638 131086638 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 131086638 131086638 insertion of <=200bp - T intron_variant BRCA-EU 8 131087052 131087052 single base substitution G C downstream_gene_variant BRCA-EU 8 131087052 131087052 single base substitution G C intron_variant BRCA-EU 8 131087844 131087844 single base substitution C G downstream_gene_variant BRCA-EU 8 131087844 131087844 single base substitution C G intron_variant BRCA-EU 8 131088777 131088777 deletion of <=200bp T - intron_variant BRCA-EU 8 131089242 131089242 single base substitution A G intron_variant BRCA-EU 8 131090068 131090068 single base substitution C G intron_variant BRCA-EU 8 131090424 131090424 single base substitution C T intron_variant BRCA-EU 8 131091277 131091277 deletion of <=200bp A - intron_variant BRCA-EU 8 131091670 131091670 single base substitution A T intron_variant BRCA-EU 8 131091729 131091729 single base substitution C T intron_variant BRCA-EU 8 131091825 131091825 single base substitution A C intron_variant BRCA-EU 8 131093800 131093800 single base substitution T C intron_variant BRCA-EU 8 131093817 131093817 single base substitution G C intron_variant BRCA-EU 8 131094139 131094139 single base substitution C G intron_variant BRCA-EU 8 131099102 131099102 single base substitution G C intron_variant BRCA-EU 8 131099367 131099367 insertion of <=200bp - A intron_variant BRCA-EU 8 131100219 131100219 single base substitution G A intron_variant BRCA-EU 8 131100445 131100445 single base substitution C T intron_variant BRCA-EU 8 131100469 131100469 single base substitution C T intron_variant BRCA-EU 8 131101211 131101211 single base substitution T C intron_variant BRCA-EU 8 131101676 131101676 single base substitution C T intron_variant BRCA-EU 8 131102338 131102338 single base substitution C T intron_variant BRCA-EU 8 131102425 131102425 single base substitution C T intron_variant BRCA-EU 8 131102914 131102914 single base substitution G A intron_variant BRCA-EU 8 131104057 131104057 single base substitution C T intron_variant BRCA-EU 8 131104710 131104710 insertion of <=200bp - A intron_variant BRCA-EU 8 131104877 131104877 single base substitution T C intron_variant BRCA-EU 8 131106331 131106331 single base substitution C T intron_variant BRCA-EU 8 131106663 131106663 single base substitution C T intron_variant BRCA-EU 8 131106761 131106761 single base substitution A T intron_variant BRCA-EU 8 131107302 131107302 single base substitution C G intron_variant BRCA-EU 8 131107620 131107620 single base substitution C A intron_variant BRCA-EU 8 131108892 131108892 single base substitution C T intron_variant BRCA-EU 8 131109458 131109458 insertion of <=200bp - CTTCATT intron_variant BRCA-EU 8 131109538 131109538 single base substitution C G intron_variant BRCA-EU 8 131110526 131110526 single base substitution C T intron_variant BRCA-EU 8 131112872 131112872 single base substitution G A intron_variant BRCA-EU 8 131112873 131112873 single base substitution C G intron_variant BRCA-EU 8 131113332 131113332 single base substitution C G intron_variant BRCA-EU 8 131113800 131113800 single base substitution A T intron_variant BRCA-EU 8 131114696 131114696 single base substitution C T intron_variant BRCA-EU 8 131115305 131115305 single base substitution T C intron_variant BRCA-EU 8 131115600 131115600 single base substitution A G intron_variant BRCA-EU 8 131115757 131115757 single base substitution T A intron_variant BRCA-EU 8 131115758 131115758 single base substitution A T intron_variant BRCA-EU 8 131115916 131115916 single base substitution T A intron_variant BRCA-EU 8 131118406 131118406 deletion of <=200bp A - intron_variant BRCA-EU 8 131119283 131119283 deletion of <=200bp T - intron_variant BRCA-EU 8 131119299 131119299 single base substitution T C intron_variant BRCA-EU 8 131120364 131120364 single base substitution C T intron_variant BRCA-EU 8 131120695 131120695 single base substitution C G intron_variant BRCA-EU 8 131121811 131121811 single base substitution T G intron_variant BRCA-EU 8 131123108 131123108 single base substitution G A downstream_gene_variant BRCA-EU 8 131123108 131123108 single base substitution G A intron_variant BRCA-EU 8 131123778 131123778 single base substitution A T downstream_gene_variant BRCA-EU 8 131123778 131123778 single base substitution A T intron_variant BRCA-EU 8 131124326 131124326 single base substitution C A downstream_gene_variant BRCA-EU 8 131124326 131124326 single base substitution C A intron_variant BRCA-EU 8 131125603 131125603 single base substitution T C downstream_gene_variant BRCA-EU 8 131125603 131125603 single base substitution T C intron_variant BRCA-EU 8 131125603 131125603 single base substitution T C upstream_gene_variant BRCA-EU 8 131125717 131125717 single base substitution C T downstream_gene_variant BRCA-EU 8 131125717 131125717 single base substitution C T intron_variant BRCA-EU 8 131125717 131125717 single base substitution C T upstream_gene_variant BRCA-EU 8 131125838 131125850 deletion of <=200bp GCAATCAATTAAT - downstream_gene_variant BRCA-EU 8 131125838 131125850 deletion of <=200bp GCAATCAATTAAT - intron_variant BRCA-EU 8 131125838 131125850 deletion of <=200bp GCAATCAATTAAT - upstream_gene_variant BRCA-EU 8 131127647 131127647 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 131127647 131127647 deletion of <=200bp A - intron_variant BRCA-EU 8 131127647 131127647 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 131127903 131127903 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 131127903 131127903 single base substitution C G exon_variant BRCA-EU 8 131127903 131127903 single base substitution C G missense_variant D128H 382G>C BRCA-EU 8 131127903 131127903 single base substitution C G missense_variant D535H 1603G>C BRCA-EU 8 131127903 131127903 single base substitution C G missense_variant D715H 2143G>C BRCA-EU 8 131127903 131127903 single base substitution C G upstream_gene_variant BRCA-EU 8 131127925 131127925 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 131127925 131127925 single base substitution C G exon_variant BRCA-EU 8 131127925 131127925 single base substitution C G missense_variant W120C 360G>C BRCA-EU 8 131127925 131127925 single base substitution C G missense_variant W527C 1581G>C BRCA-EU 8 131127925 131127925 single base substitution C G missense_variant W707C 2121G>C BRCA-EU 8 131127925 131127925 single base substitution C G upstream_gene_variant BRCA-EU 8 131128969 131128969 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 131128969 131128969 single base substitution G C exon_variant BRCA-EU 8 131128969 131128969 single base substitution G C synonymous_variant A493A 1479C>G BRCA-EU 8 131128969 131128969 single base substitution G C synonymous_variant A673A 2019C>G BRCA-EU 8 131128969 131128969 single base substitution G C synonymous_variant A86A 258C>G BRCA-EU 8 131128969 131128969 single base substitution G C upstream_gene_variant BRCA-EU 8 131129892 131129892 single base substitution C G intron_variant BRCA-EU 8 131130709 131130709 single base substitution A C intron_variant BRCA-EU 8 131132639 131132639 single base substitution C G intron_variant BRCA-EU 8 131132639 131132639 single base substitution C G upstream_gene_variant BRCA-EU 8 131132647 131132647 single base substitution C T intron_variant BRCA-EU 8 131132647 131132647 single base substitution C T upstream_gene_variant BRCA-EU 8 131132919 131132919 single base substitution C T intron_variant BRCA-EU 8 131132919 131132919 single base substitution C T upstream_gene_variant BRCA-EU 8 131133312 131133312 single base substitution C G intron_variant BRCA-EU 8 131133312 131133312 single base substitution C G upstream_gene_variant BRCA-EU 8 131134547 131134547 single base substitution C T intron_variant BRCA-EU 8 131134547 131134547 single base substitution C T upstream_gene_variant BRCA-EU 8 131134599 131134599 single base substitution C T intron_variant BRCA-EU 8 131134599 131134599 single base substitution C T upstream_gene_variant BRCA-EU 8 131134989 131134989 single base substitution A G intron_variant BRCA-EU 8 131134989 131134989 single base substitution A G upstream_gene_variant BRCA-EU 8 131135312 131135312 deletion of <=200bp T - intron_variant BRCA-EU 8 131135312 131135312 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 131137660 131137660 deletion of <=200bp T - intron_variant BRCA-EU 8 131138012 131138012 single base substitution C G intron_variant BRCA-EU 8 131138118 131138118 single base substitution G C intron_variant BRCA-EU 8 131138125 131138125 deletion of <=200bp A - intron_variant BRCA-EU 8 131138744 131138744 single base substitution G T intron_variant BRCA-EU 8 131142790 131142790 single base substitution T C intron_variant BRCA-EU 8 131143787 131143787 single base substitution A T intron_variant BRCA-EU 8 131145551 131145551 single base substitution T C intron_variant BRCA-EU 8 131145702 131145702 single base substitution A G intron_variant BRCA-EU 8 131146371 131146371 single base substitution G A intron_variant BRCA-EU 8 131146656 131146656 single base substitution G T intron_variant BRCA-EU 8 131147078 131147078 deletion of <=200bp T - intron_variant BRCA-EU 8 131147078 131147078 insertion of <=200bp - T intron_variant BRCA-EU 8 131147592 131147592 single base substitution G C intron_variant BRCA-EU 8 131147677 131147677 single base substitution G T intron_variant BRCA-EU 8 131148052 131148052 single base substitution A G intron_variant BRCA-EU 8 131148329 131148329 single base substitution G C intron_variant BRCA-EU 8 131148569 131148569 single base substitution G C intron_variant BRCA-EU 8 131148600 131148600 single base substitution A C intron_variant BRCA-EU 8 131148734 131148734 single base substitution G C intron_variant BRCA-EU 8 131148834 131148834 single base substitution G C intron_variant BRCA-EU 8 131148870 131148870 single base substitution G C intron_variant BRCA-EU 8 131152372 131152372 single base substitution A C intron_variant BRCA-EU 8 131153626 131153626 single base substitution C A intron_variant BRCA-EU 8 131153893 131153893 single base substitution A C intron_variant BRCA-EU 8 131154223 131154223 single base substitution C G intron_variant BRCA-EU 8 131154325 131154325 single base substitution C A intron_variant BRCA-EU 8 131155110 131155110 single base substitution T G intron_variant BRCA-EU 8 131155498 131155498 single base substitution T C intron_variant BRCA-EU 8 131155516 131155516 single base substitution T C intron_variant BRCA-EU 8 131156470 131156470 single base substitution A T intron_variant BRCA-EU 8 131156839 131156839 single base substitution T A intron_variant BRCA-EU 8 131157338 131157338 single base substitution C T intron_variant BRCA-EU 8 131157484 131157484 single base substitution A G intron_variant BRCA-EU 8 131157637 131157637 single base substitution T C intron_variant BRCA-EU 8 131158521 131158521 single base substitution T C intron_variant BRCA-EU 8 131158576 131158576 single base substitution G A intron_variant BRCA-EU 8 131158741 131158741 single base substitution G A intron_variant BRCA-EU 8 131159963 131159963 single base substitution C A downstream_gene_variant BRCA-EU 8 131159963 131159963 single base substitution C A intron_variant BRCA-EU 8 131160117 131160117 single base substitution C T downstream_gene_variant BRCA-EU 8 131160117 131160117 single base substitution C T intron_variant BRCA-EU 8 131160344 131160344 single base substitution C A downstream_gene_variant BRCA-EU 8 131160344 131160344 single base substitution C A intron_variant BRCA-EU 8 131160889 131160889 single base substitution C G downstream_gene_variant BRCA-EU 8 131160889 131160889 single base substitution C G intron_variant BRCA-EU 8 131161604 131161604 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 131161604 131161604 insertion of <=200bp - T intron_variant BRCA-EU 8 131161858 131161858 single base substitution G A downstream_gene_variant BRCA-EU 8 131161858 131161858 single base substitution G A intron_variant BRCA-EU 8 131162756 131162756 single base substitution C A downstream_gene_variant BRCA-EU 8 131162756 131162756 single base substitution C A intron_variant BRCA-EU 8 131164358 131164358 single base substitution C T downstream_gene_variant BRCA-EU 8 131164358 131164358 single base substitution C T intron_variant BRCA-EU 8 131164638 131164638 single base substitution C T downstream_gene_variant BRCA-EU 8 131164638 131164638 single base substitution C T intron_variant BRCA-EU 8 131165177 131165177 single base substitution A C intron_variant BRCA-EU 8 131165868 131165868 single base substitution C A intron_variant BRCA-EU 8 131165869 131165869 single base substitution C G intron_variant BRCA-EU 8 131166578 131166578 deletion of <=200bp A - intron_variant BRCA-EU 8 131168146 131168146 single base substitution G A intron_variant BRCA-EU 8 131169666 131169666 single base substitution C T intron_variant BRCA-EU 8 131171003 131171003 single base substitution T G intron_variant BRCA-EU 8 131171450 131171450 single base substitution C T intron_variant BRCA-EU 8 131171705 131171713 deletion of <=200bp AAAAATACA - intron_variant BRCA-EU 8 131172710 131172710 single base substitution C G intron_variant BRCA-EU 8 131172710 131172710 single base substitution C G upstream_gene_variant BRCA-EU 8 131172993 131172993 single base substitution A G intron_variant BRCA-EU 8 131172993 131172993 single base substitution A G upstream_gene_variant BRCA-EU 8 131173378 131173378 single base substitution C G intron_variant BRCA-EU 8 131173378 131173378 single base substitution C G upstream_gene_variant BRCA-EU 8 131174719 131174719 single base substitution C G intron_variant BRCA-EU 8 131174719 131174719 single base substitution C G upstream_gene_variant BRCA-EU 8 131175178 131175178 single base substitution T G intron_variant BRCA-EU 8 131175178 131175178 single base substitution T G upstream_gene_variant BRCA-EU 8 131175582 131175582 single base substitution C T intron_variant BRCA-EU 8 131175582 131175582 single base substitution C T upstream_gene_variant BRCA-EU 8 131176775 131176775 single base substitution T C intron_variant BRCA-EU 8 131176775 131176775 single base substitution T C upstream_gene_variant BRCA-EU 8 131176810 131176810 single base substitution C T intron_variant BRCA-EU 8 131176810 131176810 single base substitution C T upstream_gene_variant BRCA-EU 8 131176996 131176996 single base substitution C T intron_variant BRCA-EU 8 131176996 131176996 single base substitution C T upstream_gene_variant BRCA-EU 8 131178452 131178452 single base substitution A T intron_variant BRCA-EU 8 131178655 131178655 single base substitution C T intron_variant BRCA-EU 8 131180544 131180544 deletion of <=200bp A - intron_variant BRCA-EU 8 131180779 131180779 single base substitution T C intron_variant BRCA-EU 8 131181145 131181145 single base substitution C G intron_variant BRCA-EU 8 131181171 131181171 single base substitution A C intron_variant BRCA-EU 8 131181290 131181290 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 131181290 131181290 single base substitution G C missense_variant T227R 680C>G BRCA-EU 8 131181290 131181290 single base substitution G C missense_variant T257R 770C>G BRCA-EU 8 131181290 131181290 single base substitution G C missense_variant T74R 221C>G BRCA-EU 8 131182629 131182629 single base substitution G A intron_variant BRCA-EU 8 131182634 131182634 single base substitution C G intron_variant BRCA-EU 8 131182954 131182954 single base substitution T C intron_variant BRCA-EU 8 131183022 131183022 single base substitution C T intron_variant BRCA-EU 8 131183326 131183326 single base substitution C T intron_variant BRCA-EU 8 131183975 131183975 single base substitution G A intron_variant BRCA-EU 8 131184785 131184785 single base substitution G A intron_variant BRCA-EU 8 131186018 131186018 single base substitution A G intron_variant BRCA-EU 8 131186032 131186032 single base substitution A T intron_variant BRCA-EU 8 131186166 131186166 single base substitution A G intron_variant BRCA-EU 8 131186667 131186667 single base substitution A G downstream_gene_variant BRCA-EU 8 131186667 131186667 single base substitution A G intron_variant BRCA-EU 8 131187782 131187782 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 131187782 131187782 deletion of <=200bp T - intron_variant BRCA-EU 8 131188163 131188163 single base substitution G C downstream_gene_variant BRCA-EU 8 131188163 131188163 single base substitution G C intron_variant BRCA-EU 8 131188720 131188720 single base substitution T A downstream_gene_variant BRCA-EU 8 131188720 131188720 single base substitution T A intron_variant BRCA-EU 8 131189659 131189659 single base substitution G T downstream_gene_variant BRCA-EU 8 131189659 131189659 single base substitution G T intron_variant BRCA-EU 8 131190209 131190209 single base substitution T A downstream_gene_variant BRCA-EU 8 131190209 131190209 single base substitution T A intron_variant BRCA-EU 8 131191680 131191680 single base substitution T G downstream_gene_variant BRCA-EU 8 131191680 131191680 single base substitution T G intron_variant BRCA-EU 8 131193413 131193434 deletion of <=200bp ATTAATTCCTAAAGTTAAAAGG - intron_variant BRCA-EU 8 131193413 131193434 deletion of <=200bp ATTAATTCCTAAAGTTAAAAGG - upstream_gene_variant BRCA-EU 8 131193969 131193969 single base substitution C A intron_variant BRCA-EU 8 131193969 131193969 single base substitution C A upstream_gene_variant BRCA-EU 8 131194725 131194725 single base substitution C T intron_variant BRCA-EU 8 131194725 131194725 single base substitution C T upstream_gene_variant BRCA-EU 8 131194758 131194758 single base substitution A G intron_variant BRCA-EU 8 131194758 131194758 single base substitution A G upstream_gene_variant BRCA-EU 8 131195170 131195170 deletion of <=200bp A - intron_variant BRCA-EU 8 131195170 131195170 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 131198025 131198025 insertion of <=200bp - A intron_variant BRCA-EU 8 131198025 131198025 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 131200314 131200314 single base substitution C G intron_variant BRCA-EU 8 131201203 131201203 deletion of <=200bp T - intron_variant BRCA-EU 8 131202071 131202071 deletion of <=200bp T - intron_variant BRCA-EU 8 131202420 131202420 single base substitution T G downstream_gene_variant BRCA-EU 8 131202420 131202420 single base substitution T G intron_variant BRCA-EU 8 131202608 131202608 single base substitution C T downstream_gene_variant BRCA-EU 8 131202608 131202608 single base substitution C T intron_variant BRCA-EU 8 131202995 131202995 single base substitution C G downstream_gene_variant BRCA-EU 8 131202995 131202995 single base substitution C G intron_variant BRCA-EU 8 131203063 131203063 single base substitution A T downstream_gene_variant BRCA-EU 8 131203063 131203063 single base substitution A T intron_variant BRCA-EU 8 131203208 131203208 single base substitution C G downstream_gene_variant BRCA-EU 8 131203208 131203208 single base substitution C G intron_variant BRCA-EU 8 131204762 131204762 single base substitution C G downstream_gene_variant BRCA-EU 8 131204762 131204762 single base substitution C G intron_variant BRCA-EU 8 131205158 131205158 single base substitution G C downstream_gene_variant BRCA-EU 8 131205158 131205158 single base substitution G C intron_variant BRCA-EU 8 131205213 131205213 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 131205213 131205213 deletion of <=200bp A - intron_variant BRCA-EU 8 131205399 131205399 single base substitution G A downstream_gene_variant BRCA-EU 8 131205399 131205399 single base substitution G A intron_variant BRCA-EU 8 131205642 131205642 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 131205642 131205642 deletion of <=200bp A - intron_variant BRCA-EU 8 131205650 131205650 single base substitution C A downstream_gene_variant BRCA-EU 8 131205650 131205650 single base substitution C A intron_variant BRCA-EU 8 131206983 131207004 deletion of <=200bp CGCTGCTTTGAGAATCTAATGT - downstream_gene_variant BRCA-EU 8 131206983 131207004 deletion of <=200bp CGCTGCTTTGAGAATCTAATGT - intron_variant BRCA-EU 8 131207454 131207454 insertion of <=200bp - T exon_variant BRCA-EU 8 131207454 131207454 insertion of <=200bp - T intron_variant BRCA-EU 8 131208272 131208272 single base substitution C G intron_variant BRCA-EU 8 131209702 131209702 single base substitution A T intron_variant BRCA-EU 8 131210558 131210558 single base substitution A G intron_variant BRCA-EU 8 131210859 131210859 single base substitution T C intron_variant BRCA-EU 8 131213931 131213931 single base substitution C A intron_variant BRCA-EU 8 131214068 131214068 single base substitution G A intron_variant BRCA-EU 8 131214847 131214847 single base substitution C A intron_variant BRCA-EU 8 131215363 131215363 single base substitution G A intron_variant BRCA-EU 8 131215526 131215526 single base substitution T C intron_variant BRCA-EU 8 131216214 131216214 single base substitution T C intron_variant BRCA-EU 8 131217378 131217378 single base substitution A G intron_variant BRCA-EU 8 131217502 131217502 single base substitution G A intron_variant BRCA-EU 8 131218137 131218137 single base substitution G C intron_variant BRCA-EU 8 131218247 131218247 single base substitution G A intron_variant BRCA-EU 8 131218461 131218461 single base substitution C G intron_variant BRCA-EU 8 131219125 131219125 single base substitution C A intron_variant BRCA-EU 8 131219234 131219234 single base substitution A T intron_variant BRCA-EU 8 131220009 131220009 single base substitution G C intron_variant BRCA-EU 8 131221120 131221120 single base substitution T A intron_variant BRCA-EU 8 131221174 131221174 deletion of <=200bp A - intron_variant BRCA-EU 8 131221453 131221453 single base substitution A T intron_variant BRCA-EU 8 131221491 131221491 single base substitution G T intron_variant BRCA-EU 8 131222451 131222451 single base substitution A C downstream_gene_variant BRCA-EU 8 131222451 131222451 single base substitution A C intron_variant BRCA-EU 8 131222673 131222673 single base substitution C G downstream_gene_variant BRCA-EU 8 131222673 131222673 single base substitution C G intron_variant BRCA-EU 8 131223032 131223032 single base substitution G A downstream_gene_variant BRCA-EU 8 131223032 131223032 single base substitution G A intron_variant BRCA-EU 8 131223367 131223367 single base substitution G A downstream_gene_variant BRCA-EU 8 131223367 131223367 single base substitution G A intron_variant BRCA-EU 8 131224405 131224405 single base substitution C A downstream_gene_variant BRCA-EU 8 131224405 131224405 single base substitution C A intron_variant BRCA-EU 8 131225087 131225087 single base substitution G A downstream_gene_variant BRCA-EU 8 131225087 131225087 single base substitution G A intron_variant BRCA-EU 8 131225226 131225226 single base substitution C G downstream_gene_variant BRCA-EU 8 131225226 131225226 single base substitution C G intron_variant BRCA-EU 8 131225380 131225380 single base substitution T C downstream_gene_variant BRCA-EU 8 131225380 131225380 single base substitution T C intron_variant BRCA-EU 8 131226478 131226478 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 131226478 131226478 deletion of <=200bp A - intron_variant BRCA-EU 8 131226723 131226723 single base substitution G A downstream_gene_variant BRCA-EU 8 131226723 131226723 single base substitution G A intron_variant BRCA-EU 8 131227156 131227156 deletion of <=200bp T - intron_variant BRCA-EU 8 131227156 131227156 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 131227965 131227965 single base substitution G C intron_variant BRCA-EU 8 131227965 131227965 single base substitution G C upstream_gene_variant BRCA-EU 8 131228171 131228171 deletion of <=200bp A - intron_variant BRCA-EU 8 131228171 131228171 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 131228282 131228282 single base substitution A G intron_variant BRCA-EU 8 131228282 131228282 single base substitution A G upstream_gene_variant BRCA-EU 8 131228640 131228640 single base substitution A T intron_variant BRCA-EU 8 131228640 131228640 single base substitution A T upstream_gene_variant BRCA-EU 8 131229548 131229548 deletion of <=200bp T - intron_variant BRCA-EU 8 131229548 131229548 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 131231259 131231259 single base substitution A G intron_variant BRCA-EU 8 131231259 131231259 single base substitution A G upstream_gene_variant BRCA-EU 8 131231534 131231534 single base substitution A G intron_variant BRCA-EU 8 131231534 131231534 single base substitution A G upstream_gene_variant BRCA-EU 8 131232221 131232221 single base substitution G A intron_variant BRCA-EU 8 131232671 131232671 single base substitution G C intron_variant BRCA-EU 8 131234066 131234066 single base substitution G A intron_variant BRCA-EU 8 131234250 131234250 single base substitution C A intron_variant BRCA-EU 8 131235918 131235918 single base substitution G C intron_variant BRCA-EU 8 131237730 131237730 single base substitution C A intron_variant BRCA-EU 8 131239190 131239190 single base substitution C G intron_variant BRCA-EU 8 131239320 131239320 single base substitution T C intron_variant BRCA-EU 8 131239624 131239624 single base substitution G C intron_variant BRCA-EU 8 131240449 131240449 single base substitution C T intron_variant BRCA-EU 8 131240505 131240505 single base substitution G C intron_variant BRCA-EU 8 131241056 131241056 single base substitution A G intron_variant BRCA-EU 8 131241546 131241546 single base substitution G C intron_variant BRCA-EU 8 131242950 131242950 single base substitution T A intron_variant BRCA-EU 8 131244242 131244242 deletion of <=200bp T - intron_variant BRCA-EU 8 131244625 131244625 single base substitution G A intron_variant BRCA-EU 8 131244869 131244869 single base substitution T A intron_variant BRCA-EU 8 131245864 131245864 single base substitution G A intron_variant BRCA-EU 8 131246492 131246492 single base substitution G A intron_variant BRCA-EU 8 131246834 131246834 single base substitution G C intron_variant BRCA-EU 8 131247570 131247570 single base substitution T C intron_variant BRCA-EU 8 131248228 131248228 single base substitution A G intron_variant BRCA-EU 8 131250581 131250581 single base substitution A C intron_variant BRCA-EU 8 131250581 131250581 single base substitution A C upstream_gene_variant BRCA-EU 8 131250735 131250735 single base substitution G C intron_variant BRCA-EU 8 131250735 131250735 single base substitution G C upstream_gene_variant BRCA-EU 8 131252180 131252180 single base substitution A C intron_variant BRCA-EU 8 131252180 131252180 single base substitution A C upstream_gene_variant BRCA-EU 8 131252704 131252704 single base substitution G C intron_variant BRCA-EU 8 131252704 131252704 single base substitution G C upstream_gene_variant BRCA-EU 8 131253548 131253548 single base substitution C A intron_variant BRCA-EU 8 131253548 131253548 single base substitution C A upstream_gene_variant BRCA-EU 8 131255478 131255478 single base substitution T C intron_variant BRCA-EU 8 131256268 131256268 single base substitution G C intron_variant BRCA-EU 8 131257393 131257393 single base substitution G A intron_variant BRCA-EU 8 131257471 131257471 single base substitution G A intron_variant BRCA-EU 8 131257506 131257506 single base substitution A C intron_variant BRCA-EU 8 131259116 131259116 deletion of <=200bp C - intron_variant BRCA-EU 8 131259773 131259773 single base substitution A T intron_variant BRCA-EU 8 131259773 131259773 single base substitution A T upstream_gene_variant BRCA-EU 8 131259999 131259999 single base substitution C G intron_variant BRCA-EU 8 131259999 131259999 single base substitution C G upstream_gene_variant BRCA-EU 8 131260601 131260601 single base substitution C A intron_variant BRCA-EU 8 131260601 131260601 single base substitution C A upstream_gene_variant BRCA-EU 8 131260750 131260750 single base substitution A T intron_variant BRCA-EU 8 131260750 131260750 single base substitution A T upstream_gene_variant BRCA-EU 8 131261158 131261158 single base substitution C T intron_variant BRCA-EU 8 131261158 131261158 single base substitution C T upstream_gene_variant BRCA-EU 8 131261622 131261622 single base substitution A T intron_variant BRCA-EU 8 131261622 131261622 single base substitution A T upstream_gene_variant BRCA-EU 8 131262101 131262101 single base substitution C T intron_variant BRCA-EU 8 131262101 131262101 single base substitution C T upstream_gene_variant BRCA-EU 8 131262847 131262847 single base substitution C G intron_variant BRCA-EU 8 131262847 131262847 single base substitution C G upstream_gene_variant BRCA-EU 8 131264800 131264800 single base substitution T C intron_variant BRCA-EU 8 131265703 131265703 single base substitution C A intron_variant BRCA-EU 8 131266128 131266128 single base substitution G A intron_variant BRCA-EU 8 131266164 131266164 single base substitution G A intron_variant BRCA-EU 8 131267467 131267467 single base substitution T A intron_variant BRCA-EU 8 131267962 131267962 single base substitution T C intron_variant BRCA-EU 8 131268792 131268792 single base substitution G T intron_variant BRCA-EU 8 131270656 131270656 single base substitution G A intron_variant BRCA-EU 8 131270848 131270848 single base substitution T G intron_variant BRCA-EU 8 131270976 131270976 single base substitution G C intron_variant BRCA-EU 8 131271760 131271760 insertion of <=200bp - A intron_variant BRCA-EU 8 131272351 131272351 single base substitution T C intron_variant BRCA-EU 8 131273123 131273123 single base substitution A C intron_variant BRCA-EU 8 131273753 131273753 single base substitution G A intron_variant BRCA-EU 8 131275438 131275438 single base substitution C A intron_variant BRCA-EU 8 131276277 131276277 single base substitution C A intron_variant BRCA-EU 8 131276994 131276994 single base substitution A G intron_variant BRCA-EU 8 131277003 131277003 single base substitution C A intron_variant BRCA-EU 8 131277004 131277004 single base substitution C A intron_variant BRCA-EU 8 131277685 131277685 single base substitution G A intron_variant BRCA-EU 8 131279286 131279286 single base substitution C G intron_variant BRCA-EU 8 131279287 131279287 deletion of <=200bp A - intron_variant BRCA-EU 8 131279287 131279287 insertion of <=200bp - A intron_variant BRCA-EU 8 131279398 131279398 deletion of <=200bp A - intron_variant BRCA-EU 8 131279611 131279611 single base substitution T A intron_variant BRCA-EU 8 131280643 131280643 single base substitution G A intron_variant BRCA-EU 8 131281133 131281133 single base substitution T A intron_variant BRCA-EU 8 131281201 131281201 single base substitution G T intron_variant BRCA-EU 8 131281257 131281257 single base substitution G C intron_variant BRCA-EU 8 131281893 131281893 single base substitution C G intron_variant BRCA-EU 8 131283004 131283004 insertion of <=200bp - A intron_variant BRCA-EU 8 131283281 131283281 single base substitution G A intron_variant BRCA-EU 8 131284474 131284474 deletion of <=200bp A - intron_variant BRCA-EU 8 131284520 131284520 single base substitution A G intron_variant BRCA-EU 8 131284666 131284666 single base substitution G T intron_variant BRCA-EU 8 131284681 131284681 single base substitution G C intron_variant BRCA-EU 8 131286745 131286745 single base substitution G A intron_variant BRCA-EU 8 131287526 131287526 single base substitution G A intron_variant BRCA-EU 8 131289141 131289141 single base substitution C A intron_variant BRCA-EU 8 131290050 131290050 single base substitution A G intron_variant BRCA-EU 8 131290146 131290146 single base substitution T C intron_variant BRCA-EU 8 131292217 131292217 single base substitution G C intron_variant BRCA-EU 8 131292498 131292498 single base substitution G C intron_variant BRCA-EU 8 131293133 131293133 single base substitution T G intron_variant BRCA-EU 8 131293979 131293979 single base substitution T C intron_variant BRCA-EU 8 131294610 131294610 single base substitution C G intron_variant BRCA-EU 8 131294747 131294747 single base substitution C G intron_variant BRCA-EU 8 131295104 131295104 single base substitution A G intron_variant BRCA-EU 8 131295121 131295121 single base substitution A C intron_variant BRCA-EU 8 131295576 131295576 single base substitution C A intron_variant BRCA-EU 8 131296500 131296500 single base substitution G T intron_variant BRCA-EU 8 131296709 131296709 single base substitution G A intron_variant BRCA-EU 8 131297489 131297489 single base substitution G C intron_variant BRCA-EU 8 131297762 131297762 single base substitution C G intron_variant BRCA-EU 8 131299069 131299092 deletion of <=200bp ATCATTATGAAATGATGAGAAGCA - intron_variant BRCA-EU 8 131299198 131299198 single base substitution G A intron_variant BRCA-EU 8 131299282 131299282 single base substitution G A intron_variant BRCA-EU 8 131299844 131299844 single base substitution A G intron_variant BRCA-EU 8 131301161 131301161 single base substitution G A intron_variant BRCA-EU 8 131301179 131301179 single base substitution T A intron_variant BRCA-EU 8 131301394 131301394 single base substitution G A intron_variant BRCA-EU 8 131301410 131301410 single base substitution C T intron_variant BRCA-EU 8 131303082 131303082 single base substitution G A intron_variant BRCA-EU 8 131303397 131303397 single base substitution G C intron_variant BRCA-EU 8 131304975 131304975 deletion of <=200bp A - intron_variant BRCA-EU 8 131307190 131307190 single base substitution G C intron_variant BRCA-EU 8 131308050 131308050 single base substitution C T intron_variant BRCA-EU 8 131308196 131308196 deletion of <=200bp G - intron_variant BRCA-EU 8 131308451 131308451 single base substitution G A intron_variant BRCA-EU 8 131310176 131310176 single base substitution G C intron_variant BRCA-EU 8 131311409 131311409 single base substitution G A intron_variant BRCA-EU 8 131312482 131312482 single base substitution C G intron_variant BRCA-EU 8 131313352 131313352 single base substitution G A intron_variant BRCA-EU 8 131313756 131313756 single base substitution G A intron_variant BRCA-EU 8 131314277 131314277 single base substitution C G intron_variant BRCA-EU 8 131314396 131314396 single base substitution T C intron_variant BRCA-EU 8 131314486 131314486 single base substitution T C intron_variant BRCA-EU 8 131314747 131314747 single base substitution G A intron_variant BRCA-EU 8 131315727 131315727 insertion of <=200bp - A intron_variant BRCA-EU 8 131316375 131316375 single base substitution A T intron_variant BRCA-EU 8 131317755 131317755 single base substitution G A intron_variant BRCA-EU 8 131320517 131320517 single base substitution C G intron_variant BRCA-EU 8 131323283 131323283 single base substitution C T intron_variant BRCA-EU 8 131323922 131323922 single base substitution G A intron_variant BRCA-EU 8 131324006 131324006 single base substitution T A intron_variant BRCA-EU 8 131324298 131324298 single base substitution G T intron_variant BRCA-EU 8 131324480 131324480 single base substitution G A intron_variant BRCA-EU 8 131325302 131325302 deletion of <=200bp T - intron_variant BRCA-EU 8 131325719 131325721 deletion of <=200bp AAT - intron_variant BRCA-EU 8 131326164 131326164 single base substitution A G intron_variant BRCA-EU 8 131327143 131327143 single base substitution A G intron_variant BRCA-EU 8 131328213 131328213 single base substitution G A intron_variant BRCA-EU 8 131328596 131328596 single base substitution T C intron_variant BRCA-EU 8 131328686 131328686 single base substitution T C intron_variant BRCA-EU 8 131328877 131328877 single base substitution A G intron_variant BRCA-EU 8 131328928 131328928 single base substitution G A intron_variant BRCA-EU 8 131330017 131330017 single base substitution G C intron_variant BRCA-EU 8 131330495 131330495 deletion of <=200bp T - intron_variant BRCA-EU 8 131331100 131331100 single base substitution G C intron_variant BRCA-EU 8 131332695 131332695 single base substitution G T intron_variant BRCA-EU 8 131333093 131333093 single base substitution C G intron_variant BRCA-EU 8 131333963 131333963 single base substitution T C intron_variant BRCA-EU 8 131334084 131334084 single base substitution G A intron_variant BRCA-EU 8 131334659 131334659 single base substitution G A intron_variant BRCA-EU 8 131336117 131336117 deletion of <=200bp A - intron_variant BRCA-EU 8 131336377 131336377 single base substitution G C intron_variant BRCA-EU 8 131337201 131337201 single base substitution G T intron_variant BRCA-EU 8 131338301 131338301 single base substitution C A intron_variant BRCA-EU 8 131338766 131338766 single base substitution C T intron_variant BRCA-EU 8 131339138 131339138 single base substitution C T intron_variant BRCA-EU 8 131340261 131340261 insertion of <=200bp - A intron_variant BRCA-EU 8 131340458 131340458 deletion of <=200bp A - intron_variant BRCA-EU 8 131341537 131341537 single base substitution G A intron_variant BRCA-EU 8 131342007 131342007 single base substitution G C intron_variant BRCA-EU 8 131344010 131344010 single base substitution A G intron_variant BRCA-EU 8 131344113 131344113 single base substitution G T intron_variant BRCA-EU 8 131344264 131344264 single base substitution A G intron_variant BRCA-EU 8 131344901 131344901 single base substitution T C intron_variant BRCA-EU 8 131350243 131350243 single base substitution T G intron_variant BRCA-EU 8 131351499 131351499 single base substitution C A intron_variant BRCA-EU 8 131351616 131351616 single base substitution C T intron_variant BRCA-EU 8 131351947 131351947 single base substitution G C intron_variant BRCA-EU 8 131352303 131352303 single base substitution A T intron_variant BRCA-EU 8 131352693 131352693 single base substitution T C intron_variant BRCA-EU 8 131352914 131352914 single base substitution G A intron_variant BRCA-EU 8 131354407 131354407 single base substitution G A intron_variant BRCA-EU 8 131354407 131354407 single base substitution G A upstream_gene_variant BRCA-EU 8 131355246 131355246 single base substitution C G intron_variant BRCA-EU 8 131355246 131355246 single base substitution C G upstream_gene_variant BRCA-EU 8 131355838 131355876 deletion of <=200bp TGACAAATATATAAGAAATTTATTAATATGCCTGGCCTT - intron_variant BRCA-EU 8 131355838 131355876 deletion of <=200bp TGACAAATATATAAGAAATTTATTAATATGCCTGGCCTT - upstream_gene_variant BRCA-EU 8 131356414 131356414 single base substitution T C intron_variant BRCA-EU 8 131356414 131356414 single base substitution T C upstream_gene_variant BRCA-EU 8 131356522 131356522 deletion of <=200bp T - intron_variant BRCA-EU 8 131356522 131356522 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 131356773 131356773 single base substitution A G intron_variant BRCA-EU 8 131356773 131356773 single base substitution A G upstream_gene_variant BRCA-EU 8 131359009 131359009 single base substitution G T intron_variant BRCA-EU 8 131360274 131360274 single base substitution G C intron_variant BRCA-EU 8 131360376 131360376 single base substitution C T intron_variant BRCA-EU 8 131360696 131360696 single base substitution A G intron_variant BRCA-EU 8 131362049 131362049 single base substitution T G intron_variant BRCA-EU 8 131363295 131363295 single base substitution G T intron_variant BRCA-EU 8 131364463 131364463 single base substitution T G intron_variant BRCA-EU 8 131365495 131365495 single base substitution T A intron_variant BRCA-EU 8 131365580 131365580 deletion of <=200bp C - intron_variant BRCA-EU 8 131365582 131365582 single base substitution C T intron_variant BRCA-EU 8 131366291 131366291 single base substitution G A intron_variant BRCA-EU 8 131366424 131366424 single base substitution C G intron_variant BRCA-EU 8 131368782 131368782 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 131368782 131368782 deletion of <=200bp A - intron_variant BRCA-EU 8 131369608 131369608 single base substitution G A downstream_gene_variant BRCA-EU 8 131369608 131369608 single base substitution G A intron_variant BRCA-EU 8 131369726 131369735 deletion of <=200bp CTCCTGGAGT - downstream_gene_variant BRCA-EU 8 131369726 131369735 deletion of <=200bp CTCCTGGAGT - intron_variant BRCA-EU 8 131370116 131370116 single base substitution C T downstream_gene_variant BRCA-EU 8 131370116 131370116 single base substitution C T intron_variant BRCA-EU 8 131370840 131370840 single base substitution C T downstream_gene_variant BRCA-EU 8 131370840 131370840 single base substitution C T intron_variant BRCA-EU 8 131371015 131371015 single base substitution G A downstream_gene_variant BRCA-EU 8 131371015 131371015 single base substitution G A intron_variant BRCA-EU 8 131371687 131371687 single base substitution G C downstream_gene_variant BRCA-EU 8 131371687 131371687 single base substitution G C intron_variant BRCA-EU 8 131371697 131371697 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 131371697 131371697 insertion of <=200bp - A intron_variant BRCA-EU 8 131372525 131372525 single base substitution G A downstream_gene_variant BRCA-EU 8 131372525 131372525 single base substitution G A intron_variant BRCA-EU 8 131373183 131373183 single base substitution G A exon_variant BRCA-EU 8 131373183 131373183 single base substitution G A intron_variant BRCA-EU 8 131373512 131373512 single base substitution C G intron_variant BRCA-EU 8 131374204 131374204 single base substitution A G intron_variant BRCA-EU 8 131374710 131374710 single base substitution T C intron_variant BRCA-EU 8 131374940 131374940 single base substitution G A intron_variant BRCA-EU 8 131375115 131375115 single base substitution G C intron_variant BRCA-EU 8 131375570 131375570 single base substitution G A intron_variant BRCA-EU 8 131378481 131378481 single base substitution A G intron_variant BRCA-EU 8 131378780 131378780 single base substitution G A intron_variant BRCA-EU 8 131379102 131379102 single base substitution T A intron_variant BRCA-EU 8 131379108 131379108 single base substitution C G intron_variant BRCA-EU 8 131379644 131379644 single base substitution G C intron_variant BRCA-EU 8 131380295 131380295 single base substitution C G intron_variant BRCA-EU 8 131380304 131380304 insertion of <=200bp - A intron_variant BRCA-EU 8 131381439 131381439 deletion of <=200bp T - intron_variant BRCA-EU 8 131382268 131382268 single base substitution C T intron_variant BRCA-EU 8 131382522 131382522 single base substitution T A intron_variant BRCA-EU 8 131383179 131383179 single base substitution C G intron_variant BRCA-EU 8 131383216 131383216 single base substitution A G intron_variant BRCA-EU 8 131383489 131383489 single base substitution C G intron_variant BRCA-EU 8 131383697 131383697 single base substitution G C intron_variant BRCA-EU 8 131384017 131384017 single base substitution C T intron_variant BRCA-EU 8 131384645 131384645 single base substitution C T intron_variant BRCA-EU 8 131384703 131384703 single base substitution G A intron_variant BRCA-EU 8 131384757 131384757 single base substitution A G intron_variant BRCA-EU 8 131387559 131387559 single base substitution G C intron_variant BRCA-EU 8 131387631 131387631 single base substitution A G intron_variant BRCA-EU 8 131387993 131387993 single base substitution C G intron_variant BRCA-EU 8 131388929 131388929 single base substitution G A intron_variant BRCA-EU 8 131389089 131389089 single base substitution C A intron_variant BRCA-EU 8 131389396 131389396 single base substitution C T intron_variant BRCA-EU 8 131390811 131390811 single base substitution G A intron_variant BRCA-EU 8 131391486 131391486 deletion of <=200bp C - intron_variant BRCA-EU 8 131392851 131392851 single base substitution G T intron_variant BRCA-EU 8 131393595 131393595 single base substitution T C intron_variant BRCA-EU 8 131393680 131393680 single base substitution C A intron_variant BRCA-EU 8 131393818 131393818 single base substitution C A intron_variant BRCA-EU 8 131394405 131394405 single base substitution G A intron_variant BRCA-EU 8 131395044 131395044 single base substitution T C intron_variant BRCA-EU 8 131395854 131395854 single base substitution A T intron_variant BRCA-EU 8 131396749 131396749 single base substitution G A intron_variant BRCA-EU 8 131396933 131396933 single base substitution G A intron_variant BRCA-EU 8 131397605 131397605 single base substitution T C intron_variant BRCA-EU 8 131398218 131398218 single base substitution A G intron_variant BRCA-EU 8 131398630 131398630 single base substitution G A intron_variant BRCA-EU 8 131399574 131399574 single base substitution G C intron_variant BRCA-EU 8 131399574 131399574 single base substitution G C upstream_gene_variant BRCA-EU 8 131399892 131399892 single base substitution G C intron_variant BRCA-EU 8 131399892 131399892 single base substitution G C upstream_gene_variant BRCA-EU 8 131400829 131400829 single base substitution A G intron_variant BRCA-EU 8 131400829 131400829 single base substitution A G upstream_gene_variant BRCA-EU 8 131401343 131401343 single base substitution C G intron_variant BRCA-EU 8 131401343 131401343 single base substitution C G upstream_gene_variant BRCA-EU 8 131402003 131402003 single base substitution G C intron_variant BRCA-EU 8 131402003 131402003 single base substitution G C upstream_gene_variant BRCA-EU 8 131402155 131402155 single base substitution G A intron_variant BRCA-EU 8 131402155 131402155 single base substitution G A upstream_gene_variant BRCA-EU 8 131402202 131402202 single base substitution G A intron_variant BRCA-EU 8 131402202 131402202 single base substitution G A upstream_gene_variant BRCA-EU 8 131402662 131402662 single base substitution T C intron_variant BRCA-EU 8 131402662 131402662 single base substitution T C upstream_gene_variant BRCA-EU 8 131403396 131403396 single base substitution G C intron_variant BRCA-EU 8 131403396 131403396 single base substitution G C upstream_gene_variant BRCA-EU 8 131403780 131403780 single base substitution C A intron_variant BRCA-EU 8 131403780 131403780 single base substitution C A upstream_gene_variant BRCA-EU 8 131404165 131404165 single base substitution C T intron_variant BRCA-EU 8 131404239 131404239 single base substitution G A intron_variant BRCA-EU 8 131404530 131404530 single base substitution G C intron_variant BRCA-EU 8 131404587 131404587 single base substitution G C intron_variant BRCA-EU 8 131404655 131404655 single base substitution G T intron_variant BRCA-EU 8 131405098 131405098 single base substitution G C intron_variant BRCA-EU 8 131405275 131405275 single base substitution A T intron_variant BRCA-EU 8 131405276 131405276 single base substitution A T intron_variant BRCA-EU 8 131405807 131405807 single base substitution G C intron_variant BRCA-EU 8 131406287 131406287 single base substitution T G intron_variant BRCA-EU 8 131406689 131406689 single base substitution C G intron_variant BRCA-EU 8 131407518 131407518 single base substitution T C intron_variant BRCA-EU 8 131407532 131407532 single base substitution C T intron_variant BRCA-EU 8 131407533 131407533 single base substitution G A intron_variant BRCA-EU 8 131408769 131408769 single base substitution T A intron_variant BRCA-EU 8 131409405 131409405 single base substitution A G intron_variant BRCA-EU 8 131410547 131410547 single base substitution A T intron_variant BRCA-EU 8 131412559 131412559 single base substitution T A intron_variant BRCA-EU 8 131412633 131412633 single base substitution C G intron_variant BRCA-EU 8 131412888 131412888 single base substitution T A intron_variant BRCA-EU 8 131413193 131413193 single base substitution C G intron_variant BRCA-EU 8 131413290 131413290 single base substitution C A intron_variant BRCA-EU 8 131414041 131414041 single base substitution G T intron_variant BRCA-EU 8 131414605 131414605 single base substitution G T intron_variant BRCA-EU 8 131414605 131414605 single base substitution G T upstream_gene_variant BRCA-EU 8 131415167 131415167 single base substitution T G intron_variant BRCA-EU 8 131415167 131415167 single base substitution T G upstream_gene_variant BRCA-EU 8 131415332 131415332 single base substitution G C intron_variant BRCA-EU 8 131415332 131415332 single base substitution G C upstream_gene_variant BRCA-EU 8 131416276 131416276 single base substitution T C intron_variant BRCA-EU 8 131416276 131416276 single base substitution T C upstream_gene_variant BRCA-EU 8 131416428 131416428 single base substitution A C intron_variant BRCA-EU 8 131416428 131416428 single base substitution A C upstream_gene_variant BRCA-EU 8 131416695 131416695 insertion of <=200bp - CTATCCTTCAGAAT intron_variant BRCA-EU 8 131416695 131416695 insertion of <=200bp - CTATCCTTCAGAAT upstream_gene_variant BRCA-EU 8 131417400 131417400 single base substitution G A intron_variant BRCA-EU 8 131417400 131417400 single base substitution G A upstream_gene_variant BRCA-EU 8 131417460 131417460 single base substitution C A intron_variant BRCA-EU 8 131417460 131417460 single base substitution C A upstream_gene_variant BRCA-EU 8 131419594 131419594 single base substitution C G intron_variant BRCA-EU 8 131419971 131419971 single base substitution G A intron_variant BRCA-EU 8 131420151 131420151 deletion of <=200bp T - intron_variant BRCA-EU 8 131420759 131420759 single base substitution C T intron_variant BRCA-EU 8 131424294 131424294 single base substitution C T intron_variant BRCA-EU 8 131425886 131425886 single base substitution C T intron_variant BRCA-EU 8 131426096 131426096 single base substitution G A intron_variant BRCA-EU 8 131426830 131426830 single base substitution C G intron_variant BRCA-EU 8 131428123 131428123 single base substitution G A intron_variant BRCA-EU 8 131428636 131428636 single base substitution A G intron_variant BRCA-EU 8 131430464 131430464 single base substitution T C intron_variant BRCA-EU 8 131430890 131430890 deletion of <=200bp C - intron_variant BRCA-EU 8 131432312 131432312 single base substitution C G intron_variant BRCA-EU 8 131432774 131432774 single base substitution C T intron_variant BRCA-EU 8 131433347 131433347 single base substitution G A intron_variant BRCA-EU 8 131433933 131433933 single base substitution C G intron_variant BRCA-EU 8 131434691 131434691 single base substitution G A intron_variant BRCA-EU 8 131435479 131435479 single base substitution A T intron_variant BRCA-EU 8 131435529 131435529 single base substitution G C intron_variant BRCA-EU 8 131435777 131435777 single base substitution C G intron_variant BRCA-EU 8 131435883 131435883 single base substitution C G intron_variant BRCA-EU 8 131436241 131436241 single base substitution C T intron_variant BRCA-EU 8 131436276 131436276 single base substitution C T intron_variant BRCA-EU 8 131436394 131436394 deletion of <=200bp A - intron_variant BRCA-EU 8 131436528 131436528 single base substitution C A intron_variant BRCA-EU 8 131436665 131436665 single base substitution G A intron_variant BRCA-EU 8 131436767 131436767 insertion of <=200bp - T intron_variant BRCA-EU 8 131437468 131437468 single base substitution C T intron_variant BRCA-EU 8 131437741 131437741 single base substitution C T intron_variant BRCA-EU 8 131440360 131440360 single base substitution G T intron_variant BRCA-EU 8 131440360 131440360 single base substitution G T upstream_gene_variant BRCA-EU 8 131444088 131444088 single base substitution G A intron_variant BRCA-EU 8 131444088 131444088 single base substitution G A upstream_gene_variant BRCA-EU 8 131446598 131446598 single base substitution T G intron_variant BRCA-EU 8 131447429 131447429 single base substitution C A intron_variant BRCA-EU 8 131447562 131447562 single base substitution C T intron_variant BRCA-EU 8 131447781 131447781 single base substitution A G intron_variant BRCA-EU 8 131448060 131448060 single base substitution G A intron_variant BRCA-EU 8 131448336 131448336 single base substitution G C intron_variant BRCA-EU 8 131448784 131448784 single base substitution G A intron_variant BRCA-EU 8 131450608 131450608 single base substitution C A intron_variant BRCA-EU 8 131450684 131450684 single base substitution C T intron_variant BRCA-EU 8 131450821 131450821 single base substitution G A intron_variant BRCA-EU 8 131451559 131451559 single base substitution T C intron_variant BRCA-EU 8 131453302 131453302 single base substitution G A intron_variant BRCA-EU 8 131453697 131453697 single base substitution G T intron_variant BRCA-EU 8 131455330 131455330 single base substitution G C intron_variant BRCA-EU 8 131455678 131455678 single base substitution G A intron_variant BRCA-EU 8 131456277 131456277 single base substitution C T upstream_gene_variant BRCA-EU 8 131456353 131456353 single base substitution G C upstream_gene_variant BRCA-EU 8 131456459 131456459 single base substitution G A upstream_gene_variant BRCA-EU 8 131456519 131456519 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 131460036 131460036 single base substitution G A upstream_gene_variant BRCA-FR 8 131102338 131102338 single base substitution C T intron_variant BRCA-FR 8 131102425 131102425 single base substitution C T intron_variant BRCA-FR 8 131102914 131102914 single base substitution G A intron_variant BRCA-FR 8 131107234 131107234 single base substitution A T intron_variant BRCA-FR 8 131119299 131119299 single base substitution T C intron_variant BRCA-FR 8 131127965 131127965 single base substitution G C 3_prime_UTR_variant BRCA-FR 8 131127965 131127965 single base substitution G C exon_variant BRCA-FR 8 131127965 131127965 single base substitution G C missense_variant S107C 320C>G BRCA-FR 8 131127965 131127965 single base substitution G C missense_variant S514C 1541C>G BRCA-FR 8 131127965 131127965 single base substitution G C missense_variant S694C 2081C>G BRCA-FR 8 131127965 131127965 single base substitution G C upstream_gene_variant BRCA-FR 8 131134547 131134547 single base substitution C T intron_variant BRCA-FR 8 131134547 131134547 single base substitution C T upstream_gene_variant BRCA-FR 8 131138012 131138012 single base substitution C G intron_variant BRCA-FR 8 131145702 131145702 single base substitution A G intron_variant BRCA-FR 8 131151095 131151095 single base substitution A G intron_variant BRCA-FR 8 131160889 131160889 single base substitution C G downstream_gene_variant BRCA-FR 8 131160889 131160889 single base substitution C G intron_variant BRCA-FR 8 131165177 131165177 single base substitution A C intron_variant BRCA-FR 8 131174719 131174719 single base substitution C G intron_variant BRCA-FR 8 131174719 131174719 single base substitution C G upstream_gene_variant BRCA-FR 8 131176810 131176810 single base substitution C T intron_variant BRCA-FR 8 131176810 131176810 single base substitution C T upstream_gene_variant BRCA-FR 8 131176996 131176996 single base substitution C T intron_variant BRCA-FR 8 131176996 131176996 single base substitution C T upstream_gene_variant BRCA-FR 8 131178655 131178655 single base substitution C T intron_variant BRCA-FR 8 131194725 131194725 single base substitution C T intron_variant BRCA-FR 8 131194725 131194725 single base substitution C T upstream_gene_variant BRCA-FR 8 131198530 131198530 single base substitution C A intron_variant BRCA-FR 8 131199424 131199424 single base substitution C G intron_variant BRCA-FR 8 131203063 131203063 single base substitution A T downstream_gene_variant BRCA-FR 8 131203063 131203063 single base substitution A T intron_variant BRCA-FR 8 131204762 131204762 single base substitution C G downstream_gene_variant BRCA-FR 8 131204762 131204762 single base substitution C G intron_variant BRCA-FR 8 131213931 131213931 single base substitution C A intron_variant BRCA-FR 8 131219125 131219125 single base substitution C A intron_variant BRCA-FR 8 131221453 131221453 single base substitution A T intron_variant BRCA-FR 8 131233247 131233247 single base substitution C A intron_variant BRCA-FR 8 131235918 131235918 single base substitution G C intron_variant BRCA-FR 8 131236843 131236843 single base substitution T A intron_variant BRCA-FR 8 131248228 131248228 single base substitution A G intron_variant BRCA-FR 8 131256368 131256368 single base substitution A T intron_variant BRCA-FR 8 131260601 131260601 single base substitution C A intron_variant BRCA-FR 8 131260601 131260601 single base substitution C A upstream_gene_variant BRCA-FR 8 131261158 131261158 single base substitution C T intron_variant BRCA-FR 8 131261158 131261158 single base substitution C T upstream_gene_variant BRCA-FR 8 131265684 131265684 single base substitution C T intron_variant BRCA-FR 8 131271876 131271876 single base substitution T C intron_variant BRCA-FR 8 131293133 131293133 single base substitution T G intron_variant BRCA-FR 8 131301179 131301179 single base substitution T A intron_variant BRCA-FR 8 131310176 131310176 single base substitution G C intron_variant BRCA-FR 8 131311409 131311409 single base substitution G A intron_variant BRCA-FR 8 131314277 131314277 single base substitution C G intron_variant BRCA-FR 8 131319280 131319280 single base substitution G C intron_variant BRCA-FR 8 131319526 131319526 single base substitution G C intron_variant BRCA-FR 8 131319580 131319580 single base substitution G C intron_variant BRCA-FR 8 131319660 131319660 single base substitution G A intron_variant BRCA-FR 8 131319876 131319876 single base substitution G A intron_variant BRCA-FR 8 131319991 131319991 single base substitution G C intron_variant BRCA-FR 8 131320113 131320113 single base substitution G C intron_variant BRCA-FR 8 131320173 131320173 single base substitution G C intron_variant BRCA-FR 8 131330017 131330017 single base substitution G C intron_variant BRCA-FR 8 131338766 131338766 single base substitution C T intron_variant BRCA-FR 8 131344113 131344113 single base substitution G T intron_variant BRCA-FR 8 131360883 131360883 single base substitution C T intron_variant BRCA-FR 8 131365582 131365582 single base substitution C T intron_variant BRCA-FR 8 131379108 131379108 single base substitution C G intron_variant BRCA-FR 8 131380295 131380295 single base substitution C G intron_variant BRCA-FR 8 131382522 131382522 single base substitution T A intron_variant BRCA-FR 8 131387631 131387631 single base substitution A G intron_variant BRCA-FR 8 131388929 131388929 single base substitution G A intron_variant BRCA-FR 8 131395044 131395044 single base substitution T C intron_variant BRCA-FR 8 131395854 131395854 single base substitution A T intron_variant BRCA-FR 8 131397905 131397905 single base substitution G A intron_variant BRCA-FR 8 131402003 131402003 single base substitution G C intron_variant BRCA-FR 8 131402003 131402003 single base substitution G C upstream_gene_variant BRCA-FR 8 131402662 131402662 single base substitution T C intron_variant BRCA-FR 8 131402662 131402662 single base substitution T C upstream_gene_variant BRCA-FR 8 131404530 131404530 single base substitution G C intron_variant BRCA-FR 8 131415332 131415332 single base substitution G C intron_variant BRCA-FR 8 131415332 131415332 single base substitution G C upstream_gene_variant BRCA-FR 8 131429080 131429080 single base substitution G C intron_variant BRCA-FR 8 131435777 131435777 single base substitution C G intron_variant BRCA-FR 8 131435883 131435883 single base substitution C G intron_variant BRCA-FR 8 131448784 131448784 single base substitution G A intron_variant BRCA-FR 8 131456560 131456560 single base substitution C T upstream_gene_variant BRCA-UK 8 131091273 131091273 single base substitution C T intron_variant BRCA-UK 8 131093817 131093817 single base substitution G C intron_variant BRCA-UK 8 131100469 131100469 single base substitution C T intron_variant BRCA-UK 8 131112872 131112872 single base substitution G A intron_variant BRCA-UK 8 131112873 131112873 single base substitution C G intron_variant BRCA-UK 8 131130824 131130824 single base substitution C G 3_prime_UTR_variant BRCA-UK 8 131130824 131130824 single base substitution C G exon_variant BRCA-UK 8 131130824 131130824 single base substitution C G missense_variant E389Q 1165G>C BRCA-UK 8 131130824 131130824 single base substitution C G missense_variant E569Q 1705G>C BRCA-UK 8 131130824 131130824 single base substitution C G upstream_gene_variant BRCA-UK 8 131133826 131133826 single base substitution G C intron_variant BRCA-UK 8 131133826 131133826 single base substitution G C upstream_gene_variant BRCA-UK 8 131147677 131147677 single base substitution G T intron_variant BRCA-UK 8 131158282 131158282 single base substitution G C intron_variant BRCA-UK 8 131159963 131159963 single base substitution C A downstream_gene_variant BRCA-UK 8 131159963 131159963 single base substitution C A intron_variant BRCA-UK 8 131160117 131160117 single base substitution C T downstream_gene_variant BRCA-UK 8 131160117 131160117 single base substitution C T intron_variant BRCA-UK 8 131168698 131168698 single base substitution G A intron_variant BRCA-UK 8 131173996 131173996 single base substitution C A intron_variant BRCA-UK 8 131173996 131173996 single base substitution C A upstream_gene_variant BRCA-UK 8 131180551 131180551 single base substitution G C intron_variant BRCA-UK 8 131181540 131181540 single base substitution G C intron_variant BRCA-UK 8 131217378 131217378 single base substitution A G intron_variant BRCA-UK 8 131223032 131223032 single base substitution G A downstream_gene_variant BRCA-UK 8 131223032 131223032 single base substitution G A intron_variant BRCA-UK 8 131252550 131252550 single base substitution C G intron_variant BRCA-UK 8 131252550 131252550 single base substitution C G upstream_gene_variant BRCA-UK 8 131297762 131297762 single base substitution C G intron_variant BRCA-UK 8 131318786 131318786 single base substitution C G intron_variant BRCA-UK 8 131339138 131339138 single base substitution C T intron_variant BRCA-UK 8 131351616 131351616 single base substitution C T intron_variant BRCA-UK 8 131355246 131355246 single base substitution C G intron_variant BRCA-UK 8 131355246 131355246 single base substitution C G upstream_gene_variant BRCA-UK 8 131378481 131378481 single base substitution A G intron_variant BRCA-UK 8 131401343 131401343 single base substitution C G intron_variant BRCA-UK 8 131401343 131401343 single base substitution C G upstream_gene_variant BRCA-UK 8 131406287 131406287 single base substitution T G intron_variant BRCA-UK 8 131417110 131417110 single base substitution G A intron_variant BRCA-UK 8 131417110 131417110 single base substitution G A upstream_gene_variant BRCA-UK 8 131417460 131417460 single base substitution C A intron_variant BRCA-UK 8 131417460 131417460 single base substitution C A upstream_gene_variant BRCA-UK 8 131418649 131418649 single base substitution G A intron_variant BRCA-UK 8 131418649 131418649 single base substitution G A upstream_gene_variant BRCA-UK 8 131419594 131419594 single base substitution C G intron_variant BRCA-UK 8 131425886 131425886 single base substitution C T intron_variant BRCA-UK 8 131426096 131426096 single base substitution G A intron_variant BRCA-UK 8 131430464 131430464 single base substitution T C intron_variant BRCA-UK 8 131433933 131433933 single base substitution C G intron_variant BRCA-UK 8 131435479 131435479 single base substitution A T intron_variant BRCA-UK 8 131444704 131444704 single base substitution G A intron_variant BRCA-UK 8 131444704 131444704 single base substitution G A upstream_gene_variant BRCA-UK 8 131447429 131447429 single base substitution C A intron_variant BRCA-US 8 131088594 131088594 single base substitution C T downstream_gene_variant BRCA-US 8 131088594 131088594 single base substitution C T missense_variant V257M 769G>A BRCA-US 8 131088594 131088594 single base substitution C T missense_variant V721M 2161G>A BRCA-US 8 131088594 131088594 single base substitution C T missense_variant V901M 2701G>A BRCA-US 8 131088594 131088594 single base substitution C T splice_region_variant BRCA-US 8 131124376 131124376 single base substitution C T 3_prime_UTR_variant BRCA-US 8 131124376 131124376 single base substitution C T downstream_gene_variant BRCA-US 8 131124376 131124376 single base substitution C T exon_variant BRCA-US 8 131124376 131124376 single base substitution C T missense_variant E202K 604G>A BRCA-US 8 131124376 131124376 single base substitution C T missense_variant E609K 1825G>A BRCA-US 8 131124376 131124376 single base substitution C T missense_variant E789K 2365G>A BRCA-US 8 131130824 131130824 single base substitution C T 3_prime_UTR_variant BRCA-US 8 131130824 131130824 single base substitution C T exon_variant BRCA-US 8 131130824 131130824 single base substitution C T missense_variant E389K 1165G>A BRCA-US 8 131130824 131130824 single base substitution C T missense_variant E569K 1705G>A BRCA-US 8 131130824 131130824 single base substitution C T upstream_gene_variant BRCA-US 8 131140243 131140243 single base substitution C G 3_prime_UTR_variant BRCA-US 8 131140243 131140243 single base substitution C G synonymous_variant L257L 771G>C BRCA-US 8 131140243 131140243 single base substitution C G synonymous_variant L437L 1311G>C BRCA-US 8 131149217 131149217 single base substitution T C 3_prime_UTR_variant BRCA-US 8 131149217 131149217 single base substitution T C missense_variant K203R 608A>G BRCA-US 8 131149217 131149217 single base substitution T C missense_variant K383R 1148A>G BRCA-US 8 131172126 131172126 single base substitution G A 3_prime_UTR_variant BRCA-US 8 131172126 131172126 single base substitution G A exon_variant BRCA-US 8 131172126 131172126 single base substitution G A synonymous_variant L152L 454C>T BRCA-US 8 131172126 131172126 single base substitution G A synonymous_variant L302L 904C>T BRCA-US 8 131172126 131172126 single base substitution G A synonymous_variant L332L 994C>T BRCA-US 8 131179788 131179788 single base substitution C T 3_prime_UTR_variant BRCA-US 8 131179788 131179788 single base substitution C T synonymous_variant Q118Q 354G>A BRCA-US 8 131179788 131179788 single base substitution C T synonymous_variant Q271Q 813G>A BRCA-US 8 131179788 131179788 single base substitution C T synonymous_variant Q301Q 903G>A BRCA-US 8 131191529 131191529 single base substitution A C 3_prime_UTR_variant BRCA-US 8 131191529 131191529 single base substitution A C downstream_gene_variant BRCA-US 8 131191529 131191529 single base substitution A C exon_variant BRCA-US 8 131191529 131191529 single base substitution A C missense_variant Y213D 637T>G BRCA-US 8 131191529 131191529 single base substitution A C missense_variant Y243D 727T>G BRCA-US 8 131191529 131191529 single base substitution A C missense_variant Y60D 178T>G BRCA-US 8 131199523 131199523 single base substitution C G 3_prime_UTR_variant BRCA-US 8 131199523 131199523 single base substitution C G 5_prime_UTR_variant BRCA-US 8 131199523 131199523 single base substitution C G exon_variant BRCA-US 8 131199523 131199523 single base substitution C G missense_variant K133N 399G>C BRCA-US 8 131199523 131199523 single base substitution C G missense_variant K163N 489G>C BRCA-US 8 131226804 131226804 single base substitution G C downstream_gene_variant BRCA-US 8 131226804 131226804 single base substitution G C missense_variant L105V 313C>G BRCA-US 8 131226804 131226804 single base substitution G C missense_variant L135V 403C>G BRCA-US 8 131226804 131226804 single base substitution G C splice_region_variant BTCA-JP 8 131104292 131104292 single base substitution T A 3_prime_UTR_variant BTCA-JP 8 131104292 131104292 single base substitution T A exon_variant BTCA-JP 8 131104292 131104292 single base substitution T A intron_variant BTCA-JP 8 131104292 131104292 single base substitution T A synonymous_variant G653G 1959A>T BTCA-JP 8 131104292 131104292 single base substitution T A synonymous_variant G833G 2499A>T BTCA-JP 8 131127946 131127946 single base substitution G A 3_prime_UTR_variant BTCA-JP 8 131127946 131127946 single base substitution G A exon_variant BTCA-JP 8 131127946 131127946 single base substitution G A synonymous_variant H113H 339C>T BTCA-JP 8 131127946 131127946 single base substitution G A synonymous_variant H520H 1560C>T BTCA-JP 8 131127946 131127946 single base substitution G A synonymous_variant H700H 2100C>T BTCA-JP 8 131127946 131127946 single base substitution G A upstream_gene_variant BTCA-JP 8 131130702 131130702 single base substitution A G intron_variant BTCA-JP 8 131138290 131138290 single base substitution T C 3_prime_UTR_variant BTCA-JP 8 131138290 131138290 single base substitution T C missense_variant E296G 887A>G BTCA-JP 8 131138290 131138290 single base substitution T C missense_variant E476G 1427A>G BTCA-JP 8 131181351 131181351 single base substitution A T intron_variant BTCA-JP 8 131226748 131226748 single base substitution C T downstream_gene_variant BTCA-JP 8 131226748 131226748 single base substitution C T intron_variant BTCA-JP 8 131353140 131353140 single base substitution G A intron_variant BTCA-JP 8 131353140 131353140 single base substitution G A missense_variant A15V 44C>T BTCA-JP 8 131373855 131373855 single base substitution A T intron_variant CESC-US 8 131073096 131073096 single base substitution T C 3_prime_UTR_variant CESC-US 8 131073096 131073096 single base substitution T C missense_variant K330R 989A>G CESC-US 8 131073096 131073096 single base substitution T C missense_variant K794R 2381A>G CESC-US 8 131073096 131073096 single base substitution T C missense_variant K974R 2921A>G CESC-US 8 131088615 131088615 single base substitution G A 3_prime_UTR_variant CESC-US 8 131088615 131088615 single base substitution G A downstream_gene_variant CESC-US 8 131088615 131088615 single base substitution G A missense_variant L250F 748C>T CESC-US 8 131088615 131088615 single base substitution G A missense_variant L714F 2140C>T CESC-US 8 131088615 131088615 single base substitution G A missense_variant L894F 2680C>T CESC-US 8 131127903 131127903 single base substitution C G 3_prime_UTR_variant CESC-US 8 131127903 131127903 single base substitution C G exon_variant CESC-US 8 131127903 131127903 single base substitution C G missense_variant D128H 382G>C CESC-US 8 131127903 131127903 single base substitution C G missense_variant D535H 1603G>C CESC-US 8 131127903 131127903 single base substitution C G missense_variant D715H 2143G>C CESC-US 8 131127903 131127903 single base substitution C G upstream_gene_variant CESC-US 8 131128932 131128932 single base substitution C T 3_prime_UTR_variant CESC-US 8 131128932 131128932 single base substitution C T exon_variant CESC-US 8 131128932 131128932 single base substitution C T missense_variant E506K 1516G>A CESC-US 8 131128932 131128932 single base substitution C T missense_variant E686K 2056G>A CESC-US 8 131128932 131128932 single base substitution C T missense_variant E99K 295G>A CESC-US 8 131128932 131128932 single base substitution C T upstream_gene_variant CESC-US 8 131200418 131200418 single base substitution C T 3_prime_UTR_variant CESC-US 8 131200418 131200418 single base substitution C T 5_prime_UTR_variant CESC-US 8 131200418 131200418 single base substitution C T exon_variant CESC-US 8 131200418 131200418 single base substitution C T synonymous_variant L109L 327G>A CESC-US 8 131200418 131200418 single base substitution C T synonymous_variant L139L 417G>A CESC-US 8 131249237 131249237 single base substitution G A 3_prime_UTR_variant CESC-US 8 131249237 131249237 single base substitution G A 5_prime_UTR_variant CESC-US 8 131249237 131249237 single base substitution G A exon_variant CESC-US 8 131249237 131249237 single base substitution G A synonymous_variant L34L 100C>T CESC-US 8 131249237 131249237 single base substitution G A synonymous_variant L57L 169C>T CESC-US 8 131249237 131249237 single base substitution G A synonymous_variant L64L 190C>T CLLE-ES 8 131087783 131087783 single base substitution T C downstream_gene_variant CLLE-ES 8 131087783 131087783 single base substitution T C intron_variant CLLE-ES 8 131105813 131105813 single base substitution T G intron_variant CLLE-ES 8 131131618 131131644 deletion of <=200bp ATGGGAGCAGGAGACCACATGGATAAC - intron_variant CLLE-ES 8 131131618 131131644 deletion of <=200bp ATGGGAGCAGGAGACCACATGGATAAC - upstream_gene_variant CLLE-ES 8 131131740 131131740 single base substitution C T intron_variant CLLE-ES 8 131131740 131131740 single base substitution C T upstream_gene_variant CLLE-ES 8 131144208 131144208 single base substitution T A intron_variant CLLE-ES 8 131149194 131149194 single base substitution C T splice_region_variant CLLE-ES 8 131169977 131169977 single base substitution C A intron_variant CLLE-ES 8 131177489 131177489 single base substitution T A intron_variant CLLE-ES 8 131249242 131249242 single base substitution T A exon_variant CLLE-ES 8 131249242 131249242 single base substitution T A splice_acceptor_variant CLLE-ES 8 131267054 131267054 single base substitution T C intron_variant CLLE-ES 8 131278489 131278489 single base substitution A G intron_variant CLLE-ES 8 131289689 131289689 single base substitution A G intron_variant CLLE-ES 8 131291418 131291418 single base substitution G T intron_variant CLLE-ES 8 131304578 131304578 single base substitution A C intron_variant CLLE-ES 8 131332019 131332019 single base substitution A T intron_variant CLLE-ES 8 131342650 131342650 single base substitution T A intron_variant CLLE-ES 8 131385215 131385215 single base substitution G T intron_variant CLLE-ES 8 131387227 131387227 single base substitution T A intron_variant CLLE-ES 8 131423378 131423378 single base substitution G A intron_variant CLLE-ES 8 131426869 131426869 single base substitution A G intron_variant CLLE-ES 8 131438055 131438055 single base substitution C A intron_variant CLLE-ES 8 131453967 131453967 single base substitution T G intron_variant COAD-US 8 131072913 131072913 single base substitution G A 3_prime_UTR_variant COAD-US 8 131072913 131072913 single base substitution G A missense_variant A1035V 3104C>T COAD-US 8 131072913 131072913 single base substitution G A missense_variant A391V 1172C>T COAD-US 8 131072913 131072913 single base substitution G A missense_variant A855V 2564C>T COAD-US 8 131127918 131127918 single base substitution G A 3_prime_UTR_variant COAD-US 8 131127918 131127918 single base substitution G A exon_variant COAD-US 8 131127918 131127918 single base substitution G A stop_gained R123* 367C>T COAD-US 8 131127918 131127918 single base substitution G A stop_gained R530* 1588C>T COAD-US 8 131127918 131127918 single base substitution G A stop_gained R710* 2128C>T COAD-US 8 131127918 131127918 single base substitution G A upstream_gene_variant COAD-US 8 131127973 131127973 single base substitution C G 3_prime_UTR_variant COAD-US 8 131127973 131127973 single base substitution C G exon_variant COAD-US 8 131127973 131127973 single base substitution C G missense_variant Q104H 312G>C COAD-US 8 131127973 131127973 single base substitution C G missense_variant Q511H 1533G>C COAD-US 8 131127973 131127973 single base substitution C G missense_variant Q691H 2073G>C COAD-US 8 131127973 131127973 single base substitution C G upstream_gene_variant COAD-US 8 131136311 131136311 single base substitution T C 3_prime_UTR_variant COAD-US 8 131136311 131136311 single base substitution T C missense_variant M339V 1015A>G COAD-US 8 131136311 131136311 single base substitution T C missense_variant M519V 1555A>G COAD-US 8 131140327 131140327 single base substitution T C 3_prime_UTR_variant COAD-US 8 131140327 131140327 single base substitution T C synonymous_variant S229S 687A>G COAD-US 8 131140327 131140327 single base substitution T C synonymous_variant S409S 1227A>G COAD-US 8 131172111 131172111 single base substitution C T missense_variant G157R 469G>A COAD-US 8 131172111 131172111 single base substitution C T missense_variant G307R 919G>A COAD-US 8 131172111 131172111 single base substitution C T missense_variant G337R 1009G>A COAD-US 8 131172111 131172111 single base substitution C T splice_region_variant COAD-US 8 131179788 131179788 single base substitution C G 3_prime_UTR_variant COAD-US 8 131179788 131179788 single base substitution C G missense_variant Q118H 354G>C COAD-US 8 131179788 131179788 single base substitution C G missense_variant Q271H 813G>C COAD-US 8 131179788 131179788 single base substitution C G missense_variant Q301H 903G>C COCA-CN 8 131070405 131070405 single base substitution C A intron_variant COCA-CN 8 131070481 131070481 single base substitution A G intron_variant COCA-CN 8 131073095 131073095 single base substitution T G 3_prime_UTR_variant COCA-CN 8 131073095 131073095 single base substitution T G missense_variant K330N 990A>C COCA-CN 8 131073095 131073095 single base substitution T G missense_variant K794N 2382A>C COCA-CN 8 131073095 131073095 single base substitution T G missense_variant K974N 2922A>C COCA-CN 8 131076015 131076015 single base substitution A G intron_variant COCA-CN 8 131076509 131076509 single base substitution G C intron_variant COCA-CN 8 131076514 131076514 single base substitution C A intron_variant COCA-CN 8 131078224 131078224 single base substitution T G intron_variant COCA-CN 8 131082563 131082563 single base substitution G A intron_variant COCA-CN 8 131083251 131083251 single base substitution A G intron_variant COCA-CN 8 131086730 131086730 single base substitution C G downstream_gene_variant COCA-CN 8 131086730 131086730 single base substitution C G intron_variant COCA-CN 8 131092724 131092724 single base substitution C T intron_variant COCA-CN 8 131097984 131097984 single base substitution G A intron_variant COCA-CN 8 131101367 131101367 single base substitution A C intron_variant COCA-CN 8 131118802 131118802 single base substitution C A intron_variant COCA-CN 8 131119756 131119756 single base substitution T A intron_variant COCA-CN 8 131130402 131130402 single base substitution G A splice_region_variant COCA-CN 8 131138447 131138447 single base substitution G T intron_variant COCA-CN 8 131140147 131140147 single base substitution G A intron_variant COCA-CN 8 131147776 131147776 single base substitution A C intron_variant COCA-CN 8 131152346 131152346 single base substitution A C intron_variant COCA-CN 8 131165866 131165866 single base substitution G A intron_variant COCA-CN 8 131172021 131172021 single base substitution A C intron_variant COCA-CN 8 131172107 131172107 single base substitution T C intron_variant COCA-CN 8 131172107 131172107 single base substitution T C splice_region_variant COCA-CN 8 131181350 131181350 single base substitution A T intron_variant COCA-CN 8 131200309 131200309 single base substitution T A intron_variant COCA-CN 8 131217079 131217079 single base substitution G A intron_variant COCA-CN 8 131218238 131218238 single base substitution C G intron_variant COCA-CN 8 131220058 131220058 single base substitution T A intron_variant COCA-CN 8 131237972 131237972 single base substitution G A intron_variant COCA-CN 8 131244867 131244867 single base substitution T C intron_variant COCA-CN 8 131248335 131248335 single base substitution C T intron_variant COCA-CN 8 131274664 131274664 single base substitution G A intron_variant COCA-CN 8 131279369 131279369 single base substitution C A intron_variant COCA-CN 8 131288980 131288980 single base substitution T A intron_variant COCA-CN 8 131295833 131295833 single base substitution G A intron_variant COCA-CN 8 131308291 131308291 single base substitution C T intron_variant COCA-CN 8 131312397 131312397 single base substitution C G intron_variant COCA-CN 8 131322394 131322394 single base substitution A G intron_variant COCA-CN 8 131329334 131329334 single base substitution T C intron_variant COCA-CN 8 131344113 131344113 single base substitution G A intron_variant COCA-CN 8 131374123 131374123 single base substitution G A intron_variant COCA-CN 8 131374183 131374183 single base substitution G A intron_variant COCA-CN 8 131393481 131393481 single base substitution C T intron_variant COCA-CN 8 131400911 131400911 single base substitution G T intron_variant COCA-CN 8 131400911 131400911 single base substitution G T upstream_gene_variant COCA-CN 8 131403185 131403185 single base substitution G C intron_variant COCA-CN 8 131403185 131403185 single base substitution G C upstream_gene_variant COCA-CN 8 131413002 131413002 single base substitution G A intron_variant COCA-CN 8 131424316 131424316 single base substitution G A intron_variant COCA-CN 8 131437267 131437267 single base substitution A T intron_variant COCA-CN 8 131439813 131439813 single base substitution G A intron_variant COCA-CN 8 131440667 131440667 single base substitution C T intron_variant COCA-CN 8 131440667 131440667 single base substitution C T upstream_gene_variant COCA-CN 8 131440691 131440691 single base substitution C T intron_variant COCA-CN 8 131440691 131440691 single base substitution C T upstream_gene_variant COCA-CN 8 131440694 131440694 single base substitution T C intron_variant COCA-CN 8 131440694 131440694 single base substitution T C upstream_gene_variant COCA-CN 8 131440709 131440709 single base substitution T C intron_variant COCA-CN 8 131440709 131440709 single base substitution T C upstream_gene_variant COCA-CN 8 131440712 131440712 single base substitution T C intron_variant COCA-CN 8 131440712 131440712 single base substitution T C upstream_gene_variant COCA-CN 8 131440718 131440718 single base substitution C T intron_variant COCA-CN 8 131440718 131440718 single base substitution C T upstream_gene_variant COCA-CN 8 131440950 131440950 single base substitution T C intron_variant COCA-CN 8 131440950 131440950 single base substitution T C upstream_gene_variant COCA-CN 8 131460550 131460550 single base substitution T C upstream_gene_variant EOPC-DE 8 131098256 131098256 single base substitution A G intron_variant EOPC-DE 8 131155737 131155737 single base substitution C T intron_variant EOPC-DE 8 131190319 131190319 single base substitution G A downstream_gene_variant EOPC-DE 8 131190319 131190319 single base substitution G A intron_variant EOPC-DE 8 131217640 131217640 single base substitution A C intron_variant EOPC-DE 8 131257085 131257085 single base substitution C T intron_variant EOPC-DE 8 131318412 131318412 single base substitution C T intron_variant EOPC-DE 8 131356760 131356760 single base substitution T G intron_variant EOPC-DE 8 131356760 131356760 single base substitution T G upstream_gene_variant EOPC-DE 8 131395074 131395074 single base substitution C T intron_variant EOPC-DE 8 131396995 131396995 single base substitution G T intron_variant EOPC-DE 8 131403782 131403782 single base substitution T C intron_variant EOPC-DE 8 131403782 131403782 single base substitution T C upstream_gene_variant EOPC-DE 8 131442308 131442308 single base substitution C T intron_variant EOPC-DE 8 131442308 131442308 single base substitution C T upstream_gene_variant ESAD-UK 8 131060543 131060543 single base substitution G A downstream_gene_variant ESAD-UK 8 131063124 131063124 single base substitution C T downstream_gene_variant ESAD-UK 8 131063171 131063171 single base substitution C T downstream_gene_variant ESAD-UK 8 131063908 131063908 single base substitution C A downstream_gene_variant ESAD-UK 8 131066604 131066604 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 131066604 131066604 single base substitution C T downstream_gene_variant ESAD-UK 8 131068481 131068481 single base substitution A C intron_variant ESAD-UK 8 131068720 131068720 single base substitution T G intron_variant ESAD-UK 8 131069072 131069072 single base substitution C T intron_variant ESAD-UK 8 131069416 131069416 single base substitution A C intron_variant ESAD-UK 8 131070444 131070444 single base substitution C T intron_variant ESAD-UK 8 131072257 131072257 single base substitution G A intron_variant ESAD-UK 8 131072670 131072670 single base substitution C G intron_variant ESAD-UK 8 131074733 131074733 single base substitution T C intron_variant ESAD-UK 8 131075469 131075469 single base substitution C T intron_variant ESAD-UK 8 131077389 131077389 single base substitution C T intron_variant ESAD-UK 8 131077568 131077568 single base substitution G A intron_variant ESAD-UK 8 131080203 131080203 single base substitution T C intron_variant ESAD-UK 8 131080586 131080586 single base substitution C T intron_variant ESAD-UK 8 131082203 131082203 single base substitution A T intron_variant ESAD-UK 8 131084818 131084818 single base substitution C T downstream_gene_variant ESAD-UK 8 131084818 131084818 single base substitution C T intron_variant ESAD-UK 8 131087534 131087534 single base substitution C T downstream_gene_variant ESAD-UK 8 131087534 131087534 single base substitution C T intron_variant ESAD-UK 8 131090471 131090471 single base substitution A C intron_variant ESAD-UK 8 131092059 131092059 single base substitution G A intron_variant ESAD-UK 8 131092847 131092847 single base substitution A C intron_variant ESAD-UK 8 131096579 131096579 single base substitution T C intron_variant ESAD-UK 8 131097549 131097549 single base substitution T G intron_variant ESAD-UK 8 131098862 131098862 single base substitution C T intron_variant ESAD-UK 8 131105355 131105355 deletion of <=200bp A - intron_variant ESAD-UK 8 131106459 131106459 deletion of <=200bp A - intron_variant ESAD-UK 8 131108290 131108290 insertion of <=200bp - T intron_variant ESAD-UK 8 131109612 131109612 single base substitution C T intron_variant ESAD-UK 8 131112127 131112127 insertion of <=200bp - TA intron_variant ESAD-UK 8 131115007 131115007 single base substitution C T intron_variant ESAD-UK 8 131115244 131115244 single base substitution C A intron_variant ESAD-UK 8 131115987 131115987 single base substitution C A intron_variant ESAD-UK 8 131120396 131120396 single base substitution C T intron_variant ESAD-UK 8 131121583 131121583 single base substitution C T intron_variant ESAD-UK 8 131121748 131121748 single base substitution C T intron_variant ESAD-UK 8 131123091 131123091 single base substitution T C downstream_gene_variant ESAD-UK 8 131123091 131123091 single base substitution T C intron_variant ESAD-UK 8 131125009 131125009 single base substitution G A downstream_gene_variant ESAD-UK 8 131125009 131125009 single base substitution G A intron_variant ESAD-UK 8 131125009 131125009 single base substitution G A upstream_gene_variant ESAD-UK 8 131127597 131127597 single base substitution C A downstream_gene_variant ESAD-UK 8 131127597 131127597 single base substitution C A intron_variant ESAD-UK 8 131127597 131127597 single base substitution C A upstream_gene_variant ESAD-UK 8 131129044 131129044 single base substitution A G intron_variant ESAD-UK 8 131129044 131129044 single base substitution A G upstream_gene_variant ESAD-UK 8 131129795 131129795 single base substitution C T intron_variant ESAD-UK 8 131130622 131130622 single base substitution C A intron_variant ESAD-UK 8 131130887 131130887 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 131130887 131130887 single base substitution C T exon_variant ESAD-UK 8 131130887 131130887 single base substitution C T missense_variant V368I 1102G>A ESAD-UK 8 131130887 131130887 single base substitution C T missense_variant V548I 1642G>A ESAD-UK 8 131130887 131130887 single base substitution C T upstream_gene_variant ESAD-UK 8 131131020 131131020 single base substitution A C exon_variant ESAD-UK 8 131131020 131131020 single base substitution A C intron_variant ESAD-UK 8 131131020 131131020 single base substitution A C upstream_gene_variant ESAD-UK 8 131133324 131133324 single base substitution G T intron_variant ESAD-UK 8 131133324 131133324 single base substitution G T upstream_gene_variant ESAD-UK 8 131133480 131133480 insertion of <=200bp - C intron_variant ESAD-UK 8 131133480 131133480 insertion of <=200bp - C upstream_gene_variant ESAD-UK 8 131133794 131133794 single base substitution G A intron_variant ESAD-UK 8 131133794 131133794 single base substitution G A upstream_gene_variant ESAD-UK 8 131135801 131135801 single base substitution C T intron_variant ESAD-UK 8 131135801 131135801 single base substitution C T upstream_gene_variant ESAD-UK 8 131136343 131136343 single base substitution T C 3_prime_UTR_variant ESAD-UK 8 131136343 131136343 single base substitution T C missense_variant K328R 983A>G ESAD-UK 8 131136343 131136343 single base substitution T C missense_variant K508R 1523A>G ESAD-UK 8 131139374 131139374 single base substitution T C intron_variant ESAD-UK 8 131139521 131139521 single base substitution G A intron_variant ESAD-UK 8 131141964 131141964 single base substitution T C intron_variant ESAD-UK 8 131141989 131141989 single base substitution T G intron_variant ESAD-UK 8 131143143 131143143 single base substitution C A intron_variant ESAD-UK 8 131143264 131143264 single base substitution G A intron_variant ESAD-UK 8 131145223 131145223 single base substitution C T intron_variant ESAD-UK 8 131145286 131145286 single base substitution C T intron_variant ESAD-UK 8 131146079 131146079 single base substitution C A intron_variant ESAD-UK 8 131149230 131149230 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 131149230 131149230 single base substitution C A missense_variant A199S 595G>T ESAD-UK 8 131149230 131149230 single base substitution C A missense_variant A379S 1135G>T ESAD-UK 8 131150036 131150036 single base substitution G A intron_variant ESAD-UK 8 131150459 131150459 single base substitution C T intron_variant ESAD-UK 8 131152555 131152555 single base substitution G A intron_variant ESAD-UK 8 131152617 131152617 single base substitution A T intron_variant ESAD-UK 8 131152889 131152889 deletion of <=200bp T - intron_variant ESAD-UK 8 131152897 131152897 single base substitution C G intron_variant ESAD-UK 8 131153448 131153448 single base substitution G A intron_variant ESAD-UK 8 131153952 131153952 single base substitution G A intron_variant ESAD-UK 8 131155386 131155386 single base substitution G A intron_variant ESAD-UK 8 131155776 131155776 single base substitution T A intron_variant ESAD-UK 8 131156081 131156081 single base substitution G A intron_variant ESAD-UK 8 131157731 131157731 single base substitution T G intron_variant ESAD-UK 8 131158868 131158868 single base substitution G C intron_variant ESAD-UK 8 131158998 131158998 single base substitution C T intron_variant ESAD-UK 8 131159123 131159123 single base substitution T A intron_variant ESAD-UK 8 131159341 131159341 single base substitution C T intron_variant ESAD-UK 8 131160055 131160055 single base substitution C T downstream_gene_variant ESAD-UK 8 131160055 131160055 single base substitution C T intron_variant ESAD-UK 8 131160668 131160668 single base substitution A G downstream_gene_variant ESAD-UK 8 131160668 131160668 single base substitution A G intron_variant ESAD-UK 8 131164405 131164405 single base substitution G T downstream_gene_variant ESAD-UK 8 131164405 131164405 single base substitution G T intron_variant ESAD-UK 8 131164706 131164706 single base substitution T C downstream_gene_variant ESAD-UK 8 131164706 131164706 single base substitution T C intron_variant ESAD-UK 8 131166361 131166361 single base substitution G C intron_variant ESAD-UK 8 131166363 131166363 single base substitution C A intron_variant ESAD-UK 8 131167271 131167271 single base substitution G A intron_variant ESAD-UK 8 131167401 131167401 single base substitution C G intron_variant ESAD-UK 8 131167711 131167711 single base substitution C G intron_variant ESAD-UK 8 131169478 131169478 single base substitution T C intron_variant ESAD-UK 8 131170415 131170415 single base substitution C T intron_variant ESAD-UK 8 131171088 131171088 single base substitution C T intron_variant ESAD-UK 8 131171145 131171145 single base substitution T C intron_variant ESAD-UK 8 131171960 131171960 single base substitution C T intron_variant ESAD-UK 8 131172008 131172008 single base substitution C T intron_variant ESAD-UK 8 131172112 131172112 single base substitution G A splice_region_variant ESAD-UK 8 131174305 131174305 single base substitution C T intron_variant ESAD-UK 8 131174305 131174305 single base substitution C T upstream_gene_variant ESAD-UK 8 131175610 131175610 single base substitution A C intron_variant ESAD-UK 8 131175610 131175610 single base substitution A C upstream_gene_variant ESAD-UK 8 131177603 131177603 single base substitution C A intron_variant ESAD-UK 8 131180451 131180451 single base substitution C T intron_variant ESAD-UK 8 131180544 131180544 deletion of <=200bp A - intron_variant ESAD-UK 8 131181125 131181125 single base substitution G A intron_variant ESAD-UK 8 131182199 131182199 single base substitution A G intron_variant ESAD-UK 8 131182352 131182352 single base substitution C T intron_variant ESAD-UK 8 131183639 131183639 single base substitution T G intron_variant ESAD-UK 8 131184232 131184232 single base substitution T C intron_variant ESAD-UK 8 131185160 131185160 single base substitution A G intron_variant ESAD-UK 8 131185637 131185637 single base substitution C T intron_variant ESAD-UK 8 131185718 131185718 single base substitution G C intron_variant ESAD-UK 8 131185787 131185787 single base substitution C T intron_variant ESAD-UK 8 131187424 131187424 single base substitution A T downstream_gene_variant ESAD-UK 8 131187424 131187424 single base substitution A T intron_variant ESAD-UK 8 131189525 131189525 single base substitution C A downstream_gene_variant ESAD-UK 8 131189525 131189525 single base substitution C A intron_variant ESAD-UK 8 131198634 131198634 single base substitution G T intron_variant ESAD-UK 8 131198799 131198799 single base substitution G A intron_variant ESAD-UK 8 131198966 131198966 single base substitution G A intron_variant ESAD-UK 8 131199222 131199222 single base substitution C A intron_variant ESAD-UK 8 131199276 131199276 single base substitution C T intron_variant ESAD-UK 8 131199606 131199606 single base substitution C A intron_variant ESAD-UK 8 131200098 131200098 single base substitution C T intron_variant ESAD-UK 8 131200422 131200422 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 131200422 131200422 single base substitution C T 5_prime_UTR_variant ESAD-UK 8 131200422 131200422 single base substitution C T exon_variant ESAD-UK 8 131200422 131200422 single base substitution C T missense_variant G108D 323G>A ESAD-UK 8 131200422 131200422 single base substitution C T missense_variant G138D 413G>A ESAD-UK 8 131200501 131200501 single base substitution T A intron_variant ESAD-UK 8 131201136 131201136 single base substitution C T intron_variant ESAD-UK 8 131201563 131201563 single base substitution C G intron_variant ESAD-UK 8 131204647 131204647 deletion of <=200bp A - downstream_gene_variant ESAD-UK 8 131204647 131204647 deletion of <=200bp A - intron_variant ESAD-UK 8 131205642 131205642 insertion of <=200bp - A downstream_gene_variant ESAD-UK 8 131205642 131205642 insertion of <=200bp - A intron_variant ESAD-UK 8 131205649 131205649 single base substitution A C downstream_gene_variant ESAD-UK 8 131205649 131205649 single base substitution A C intron_variant ESAD-UK 8 131206104 131206104 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 131206104 131206104 deletion of <=200bp T - intron_variant ESAD-UK 8 131206111 131206111 single base substitution T A downstream_gene_variant ESAD-UK 8 131206111 131206111 single base substitution T A intron_variant ESAD-UK 8 131206463 131206463 single base substitution C A downstream_gene_variant ESAD-UK 8 131206463 131206463 single base substitution C A intron_variant ESAD-UK 8 131209879 131209879 single base substitution C T intron_variant ESAD-UK 8 131210240 131210240 single base substitution A G intron_variant ESAD-UK 8 131213231 131213231 single base substitution T G intron_variant ESAD-UK 8 131216020 131216020 single base substitution A G intron_variant ESAD-UK 8 131217648 131217648 single base substitution A C intron_variant ESAD-UK 8 131217941 131217941 single base substitution A C intron_variant ESAD-UK 8 131218306 131218306 single base substitution A G intron_variant ESAD-UK 8 131218906 131218906 single base substitution G A intron_variant ESAD-UK 8 131218923 131218923 single base substitution T C intron_variant ESAD-UK 8 131220279 131220279 single base substitution C T intron_variant ESAD-UK 8 131221036 131221036 single base substitution T C intron_variant ESAD-UK 8 131221103 131221103 single base substitution C T intron_variant ESAD-UK 8 131224409 131224409 single base substitution G T downstream_gene_variant ESAD-UK 8 131224409 131224409 single base substitution G T intron_variant ESAD-UK 8 131224652 131224652 single base substitution G C downstream_gene_variant ESAD-UK 8 131224652 131224652 single base substitution G C intron_variant ESAD-UK 8 131226936 131226936 single base substitution T A 3_prime_UTR_variant ESAD-UK 8 131226936 131226936 single base substitution T A 5_prime_UTR_variant ESAD-UK 8 131226936 131226936 single base substitution T A exon_variant ESAD-UK 8 131226936 131226936 single base substitution T A missense_variant N61Y 181A>T ESAD-UK 8 131226936 131226936 single base substitution T A missense_variant N84Y 250A>T ESAD-UK 8 131226936 131226936 single base substitution T A missense_variant N91Y 271A>T ESAD-UK 8 131226936 131226936 single base substitution T A upstream_gene_variant ESAD-UK 8 131227304 131227304 single base substitution G A intron_variant ESAD-UK 8 131227304 131227304 single base substitution G A upstream_gene_variant ESAD-UK 8 131227664 131227664 single base substitution C T intron_variant ESAD-UK 8 131227664 131227664 single base substitution C T upstream_gene_variant ESAD-UK 8 131228239 131228246 deletion of <=200bp AGGAAAGG - intron_variant ESAD-UK 8 131228239 131228246 deletion of <=200bp AGGAAAGG - upstream_gene_variant ESAD-UK 8 131228328 131228328 single base substitution G C intron_variant ESAD-UK 8 131228328 131228328 single base substitution G C upstream_gene_variant ESAD-UK 8 131229558 131229558 single base substitution G T intron_variant ESAD-UK 8 131229558 131229558 single base substitution G T upstream_gene_variant ESAD-UK 8 131230095 131230095 single base substitution C T intron_variant ESAD-UK 8 131230095 131230095 single base substitution C T upstream_gene_variant ESAD-UK 8 131230475 131230475 single base substitution G A intron_variant ESAD-UK 8 131230475 131230475 single base substitution G A upstream_gene_variant ESAD-UK 8 131230565 131230565 single base substitution T G intron_variant ESAD-UK 8 131230565 131230565 single base substitution T G upstream_gene_variant ESAD-UK 8 131230704 131230704 single base substitution G A intron_variant ESAD-UK 8 131230704 131230704 single base substitution G A upstream_gene_variant ESAD-UK 8 131230829 131230829 single base substitution G C intron_variant ESAD-UK 8 131230829 131230829 single base substitution G C upstream_gene_variant ESAD-UK 8 131230999 131230999 single base substitution C T intron_variant ESAD-UK 8 131230999 131230999 single base substitution C T upstream_gene_variant ESAD-UK 8 131231020 131231020 single base substitution G A intron_variant ESAD-UK 8 131231020 131231020 single base substitution G A upstream_gene_variant ESAD-UK 8 131231741 131231741 single base substitution A T intron_variant ESAD-UK 8 131231741 131231741 single base substitution A T upstream_gene_variant ESAD-UK 8 131232061 131232061 single base substitution G T intron_variant ESAD-UK 8 131232598 131232598 single base substitution C G intron_variant ESAD-UK 8 131232725 131232725 single base substitution G C intron_variant ESAD-UK 8 131233019 131233019 single base substitution C T intron_variant ESAD-UK 8 131233330 131233330 single base substitution A T intron_variant ESAD-UK 8 131233381 131233381 single base substitution G T intron_variant ESAD-UK 8 131234793 131234793 single base substitution G A intron_variant ESAD-UK 8 131235546 131235546 single base substitution C A intron_variant ESAD-UK 8 131236428 131236428 single base substitution C G intron_variant ESAD-UK 8 131236957 131236957 single base substitution C G intron_variant ESAD-UK 8 131237486 131237486 single base substitution G A intron_variant ESAD-UK 8 131238622 131238622 single base substitution G A intron_variant ESAD-UK 8 131240072 131240072 single base substitution T A intron_variant ESAD-UK 8 131241218 131241218 single base substitution A C intron_variant ESAD-UK 8 131243021 131243021 deletion of <=200bp A - intron_variant ESAD-UK 8 131245864 131245864 single base substitution G A intron_variant ESAD-UK 8 131246223 131246223 insertion of <=200bp - T intron_variant ESAD-UK 8 131247209 131247209 single base substitution G T intron_variant ESAD-UK 8 131249084 131249084 single base substitution A G intron_variant ESAD-UK 8 131249574 131249574 single base substitution T C intron_variant ESAD-UK 8 131249574 131249574 single base substitution T C upstream_gene_variant ESAD-UK 8 131250927 131250927 single base substitution G A intron_variant ESAD-UK 8 131250927 131250927 single base substitution G A upstream_gene_variant ESAD-UK 8 131254099 131254099 single base substitution C T intron_variant ESAD-UK 8 131254099 131254099 single base substitution C T upstream_gene_variant ESAD-UK 8 131254739 131254739 single base substitution G C intron_variant ESAD-UK 8 131254819 131254819 single base substitution G T intron_variant ESAD-UK 8 131255100 131255100 single base substitution C A intron_variant ESAD-UK 8 131255201 131255201 single base substitution C A intron_variant ESAD-UK 8 131256885 131256885 insertion of <=200bp - CA intron_variant ESAD-UK 8 131258088 131258088 single base substitution A G intron_variant ESAD-UK 8 131258395 131258395 single base substitution C T intron_variant ESAD-UK 8 131260253 131260253 single base substitution A C intron_variant ESAD-UK 8 131260253 131260253 single base substitution A C upstream_gene_variant ESAD-UK 8 131262988 131262988 deletion of <=200bp A - intron_variant ESAD-UK 8 131262988 131262988 deletion of <=200bp A - upstream_gene_variant ESAD-UK 8 131263116 131263116 single base substitution C T intron_variant ESAD-UK 8 131263116 131263116 single base substitution C T upstream_gene_variant ESAD-UK 8 131266949 131266949 single base substitution A T intron_variant ESAD-UK 8 131267558 131267558 single base substitution A C intron_variant ESAD-UK 8 131272004 131272004 single base substitution C T intron_variant ESAD-UK 8 131273902 131273902 single base substitution A C intron_variant ESAD-UK 8 131274392 131274392 single base substitution C T intron_variant ESAD-UK 8 131275101 131275101 single base substitution G A intron_variant ESAD-UK 8 131276292 131276292 single base substitution G A intron_variant ESAD-UK 8 131277478 131277478 single base substitution G C intron_variant ESAD-UK 8 131277554 131277554 single base substitution C T intron_variant ESAD-UK 8 131278032 131278032 single base substitution G A intron_variant ESAD-UK 8 131278107 131278107 single base substitution G A intron_variant ESAD-UK 8 131280578 131280578 single base substitution A G intron_variant ESAD-UK 8 131281851 131281851 single base substitution C A intron_variant ESAD-UK 8 131282198 131282198 single base substitution C T intron_variant ESAD-UK 8 131282631 131282631 single base substitution C A intron_variant ESAD-UK 8 131284678 131284678 single base substitution G A intron_variant ESAD-UK 8 131286384 131286384 single base substitution T A intron_variant ESAD-UK 8 131286671 131286671 single base substitution A C intron_variant ESAD-UK 8 131287643 131287643 single base substitution T G intron_variant ESAD-UK 8 131287868 131287868 single base substitution A G intron_variant ESAD-UK 8 131288858 131288858 single base substitution T G intron_variant ESAD-UK 8 131289088 131289088 single base substitution G T intron_variant ESAD-UK 8 131289358 131289358 single base substitution G A intron_variant ESAD-UK 8 131293840 131293840 single base substitution T G intron_variant ESAD-UK 8 131294797 131294797 single base substitution G T intron_variant ESAD-UK 8 131295507 131295510 deletion of <=200bp AAAC - intron_variant ESAD-UK 8 131296204 131296204 single base substitution G T intron_variant ESAD-UK 8 131297484 131297484 single base substitution T C intron_variant ESAD-UK 8 131297489 131297489 single base substitution G A intron_variant ESAD-UK 8 131297773 131297773 single base substitution A T intron_variant ESAD-UK 8 131299047 131299047 single base substitution C G intron_variant ESAD-UK 8 131299342 131299342 single base substitution G T intron_variant ESAD-UK 8 131302448 131302448 single base substitution A C intron_variant ESAD-UK 8 131303056 131303056 single base substitution G A intron_variant ESAD-UK 8 131303263 131303263 single base substitution G A intron_variant ESAD-UK 8 131305968 131305968 single base substitution C G intron_variant ESAD-UK 8 131306946 131306946 single base substitution C A intron_variant ESAD-UK 8 131307052 131307052 single base substitution T A intron_variant ESAD-UK 8 131307376 131307376 single base substitution A T intron_variant ESAD-UK 8 131307661 131307661 single base substitution C A intron_variant ESAD-UK 8 131309399 131309399 single base substitution C A intron_variant ESAD-UK 8 131309795 131309795 single base substitution C T intron_variant ESAD-UK 8 131310663 131310663 single base substitution T C intron_variant ESAD-UK 8 131311242 131311242 single base substitution G A intron_variant ESAD-UK 8 131312619 131312619 single base substitution T G intron_variant ESAD-UK 8 131313089 131313089 single base substitution G A intron_variant ESAD-UK 8 131313365 131313365 single base substitution C A intron_variant ESAD-UK 8 131315094 131315094 single base substitution C G intron_variant ESAD-UK 8 131315592 131315592 single base substitution C T intron_variant ESAD-UK 8 131316620 131316620 deletion of <=200bp A - intron_variant ESAD-UK 8 131317142 131317142 single base substitution C G intron_variant ESAD-UK 8 131318322 131318322 single base substitution G A intron_variant ESAD-UK 8 131318503 131318503 single base substitution C T intron_variant ESAD-UK 8 131321629 131321629 single base substitution C T intron_variant ESAD-UK 8 131323085 131323085 single base substitution A G intron_variant ESAD-UK 8 131323664 131323664 insertion of <=200bp - T intron_variant ESAD-UK 8 131323708 131323708 single base substitution T G intron_variant ESAD-UK 8 131324700 131324700 deletion of <=200bp A - intron_variant ESAD-UK 8 131324747 131324747 single base substitution C T intron_variant ESAD-UK 8 131324781 131324781 single base substitution A G intron_variant ESAD-UK 8 131325028 131325028 single base substitution T C intron_variant ESAD-UK 8 131326178 131326178 single base substitution C T intron_variant ESAD-UK 8 131328965 131328965 single base substitution G A intron_variant ESAD-UK 8 131329613 131329613 single base substitution G T intron_variant ESAD-UK 8 131330820 131330820 single base substitution G A intron_variant ESAD-UK 8 131330919 131330919 single base substitution C G intron_variant ESAD-UK 8 131331043 131331043 single base substitution C T intron_variant ESAD-UK 8 131331568 131331568 single base substitution A G intron_variant ESAD-UK 8 131331812 131331812 single base substitution G A intron_variant ESAD-UK 8 131332983 131332983 single base substitution G A intron_variant ESAD-UK 8 131333952 131333952 single base substitution A C intron_variant ESAD-UK 8 131334915 131334915 single base substitution T C intron_variant ESAD-UK 8 131336497 131336497 single base substitution G T intron_variant ESAD-UK 8 131336929 131336929 single base substitution C G intron_variant ESAD-UK 8 131340128 131340128 single base substitution G A intron_variant ESAD-UK 8 131340261 131340261 insertion of <=200bp - A intron_variant ESAD-UK 8 131341448 131341448 single base substitution C T intron_variant ESAD-UK 8 131343236 131343236 single base substitution G A intron_variant ESAD-UK 8 131343695 131343695 single base substitution G A intron_variant ESAD-UK 8 131344793 131344793 single base substitution A G intron_variant ESAD-UK 8 131345106 131345106 single base substitution T A intron_variant ESAD-UK 8 131346961 131346961 single base substitution C A intron_variant ESAD-UK 8 131349375 131349375 deletion of <=200bp A - intron_variant ESAD-UK 8 131352389 131352389 single base substitution G A intron_variant ESAD-UK 8 131352428 131352428 single base substitution A T intron_variant ESAD-UK 8 131354598 131354598 single base substitution T C intron_variant ESAD-UK 8 131354598 131354598 single base substitution T C upstream_gene_variant ESAD-UK 8 131354855 131354855 single base substitution T C intron_variant ESAD-UK 8 131354855 131354855 single base substitution T C upstream_gene_variant ESAD-UK 8 131355716 131355716 single base substitution C A intron_variant ESAD-UK 8 131355716 131355716 single base substitution C A upstream_gene_variant ESAD-UK 8 131356247 131356247 single base substitution C T intron_variant ESAD-UK 8 131356247 131356247 single base substitution C T upstream_gene_variant ESAD-UK 8 131356495 131356495 single base substitution C G intron_variant ESAD-UK 8 131356495 131356495 single base substitution C G upstream_gene_variant ESAD-UK 8 131357597 131357597 single base substitution G A intron_variant ESAD-UK 8 131357597 131357597 single base substitution G A upstream_gene_variant ESAD-UK 8 131358623 131358623 single base substitution C G intron_variant ESAD-UK 8 131358697 131358697 deletion of <=200bp T - intron_variant ESAD-UK 8 131359150 131359150 single base substitution A C intron_variant ESAD-UK 8 131361365 131361365 single base substitution G T intron_variant ESAD-UK 8 131361642 131361642 single base substitution C T intron_variant ESAD-UK 8 131363271 131363271 single base substitution C G intron_variant ESAD-UK 8 131364014 131364014 single base substitution C T intron_variant ESAD-UK 8 131364956 131364956 single base substitution G C intron_variant ESAD-UK 8 131365041 131365041 single base substitution A G intron_variant ESAD-UK 8 131365380 131365380 single base substitution C T intron_variant ESAD-UK 8 131367083 131367083 single base substitution G A intron_variant ESAD-UK 8 131368512 131368512 single base substitution A C downstream_gene_variant ESAD-UK 8 131368512 131368512 single base substitution A C intron_variant ESAD-UK 8 131368669 131368669 single base substitution A G downstream_gene_variant ESAD-UK 8 131368669 131368669 single base substitution A G intron_variant ESAD-UK 8 131369118 131369118 single base substitution G A downstream_gene_variant ESAD-UK 8 131369118 131369118 single base substitution G A intron_variant ESAD-UK 8 131370068 131370068 single base substitution C G downstream_gene_variant ESAD-UK 8 131370068 131370068 single base substitution C G intron_variant ESAD-UK 8 131371682 131371684 deletion of <=200bp AAG - downstream_gene_variant ESAD-UK 8 131371682 131371684 deletion of <=200bp AAG - intron_variant ESAD-UK 8 131373126 131373126 single base substitution C G exon_variant ESAD-UK 8 131373126 131373126 single base substitution C G intron_variant ESAD-UK 8 131373332 131373332 single base substitution T C exon_variant ESAD-UK 8 131373332 131373332 single base substitution T C intron_variant ESAD-UK 8 131374124 131374124 single base substitution C T intron_variant ESAD-UK 8 131374390 131374390 single base substitution T G intron_variant ESAD-UK 8 131374925 131374925 single base substitution G T intron_variant ESAD-UK 8 131375437 131375437 single base substitution G A intron_variant ESAD-UK 8 131375684 131375684 single base substitution G C intron_variant ESAD-UK 8 131376313 131376313 single base substitution A T intron_variant ESAD-UK 8 131378254 131378254 deletion of <=200bp T - intron_variant ESAD-UK 8 131378407 131378407 single base substitution A G intron_variant ESAD-UK 8 131379286 131379286 single base substitution C T intron_variant ESAD-UK 8 131379314 131379314 single base substitution T A intron_variant ESAD-UK 8 131379358 131379358 single base substitution G T intron_variant ESAD-UK 8 131380265 131380265 single base substitution A G intron_variant ESAD-UK 8 131380658 131380658 single base substitution A G intron_variant ESAD-UK 8 131380939 131380939 single base substitution C T intron_variant ESAD-UK 8 131381131 131381131 deletion of <=200bp T - intron_variant ESAD-UK 8 131381948 131381948 single base substitution T A intron_variant ESAD-UK 8 131382111 131382111 single base substitution T C intron_variant ESAD-UK 8 131384728 131384728 single base substitution G C intron_variant ESAD-UK 8 131384844 131384844 single base substitution T C intron_variant ESAD-UK 8 131386331 131386331 single base substitution T G intron_variant ESAD-UK 8 131386692 131386692 single base substitution G A intron_variant ESAD-UK 8 131387399 131387399 single base substitution C T intron_variant ESAD-UK 8 131387960 131387960 single base substitution G T intron_variant ESAD-UK 8 131388451 131388451 single base substitution G C intron_variant ESAD-UK 8 131391956 131391956 single base substitution T G intron_variant ESAD-UK 8 131392453 131392453 single base substitution G A intron_variant ESAD-UK 8 131392706 131392706 single base substitution A G intron_variant ESAD-UK 8 131394867 131394867 single base substitution C T intron_variant ESAD-UK 8 131396650 131396650 single base substitution T G intron_variant ESAD-UK 8 131397399 131397399 single base substitution C T intron_variant ESAD-UK 8 131399655 131399655 single base substitution G A intron_variant ESAD-UK 8 131399655 131399655 single base substitution G A upstream_gene_variant ESAD-UK 8 131399790 131399790 single base substitution A G intron_variant ESAD-UK 8 131399790 131399790 single base substitution A G upstream_gene_variant ESAD-UK 8 131402652 131402652 single base substitution T C intron_variant ESAD-UK 8 131402652 131402652 single base substitution T C upstream_gene_variant ESAD-UK 8 131403811 131403811 single base substitution T G intron_variant ESAD-UK 8 131403811 131403811 single base substitution T G upstream_gene_variant ESAD-UK 8 131403925 131403925 single base substitution C T intron_variant ESAD-UK 8 131403925 131403925 single base substitution C T upstream_gene_variant ESAD-UK 8 131405937 131405937 single base substitution G C intron_variant ESAD-UK 8 131406640 131406640 single base substitution A T intron_variant ESAD-UK 8 131407155 131407155 single base substitution A T intron_variant ESAD-UK 8 131407264 131407264 single base substitution G A intron_variant ESAD-UK 8 131407513 131407513 single base substitution C T intron_variant ESAD-UK 8 131409193 131409193 single base substitution C G intron_variant ESAD-UK 8 131410465 131410465 single base substitution C A intron_variant ESAD-UK 8 131411020 131411020 single base substitution A C intron_variant ESAD-UK 8 131411295 131411295 single base substitution T C intron_variant ESAD-UK 8 131411367 131411367 single base substitution C T intron_variant ESAD-UK 8 131412127 131412127 single base substitution G A intron_variant ESAD-UK 8 131412849 131412849 single base substitution C T intron_variant ESAD-UK 8 131414919 131414919 single base substitution C T intron_variant ESAD-UK 8 131414919 131414919 single base substitution C T upstream_gene_variant ESAD-UK 8 131414964 131414964 single base substitution T A intron_variant ESAD-UK 8 131414964 131414964 single base substitution T A upstream_gene_variant ESAD-UK 8 131415166 131415167 deletion of <=200bp GT - intron_variant ESAD-UK 8 131415166 131415167 deletion of <=200bp GT - upstream_gene_variant ESAD-UK 8 131415547 131415547 single base substitution T A intron_variant ESAD-UK 8 131415547 131415547 single base substitution T A upstream_gene_variant ESAD-UK 8 131415702 131415702 single base substitution A G intron_variant ESAD-UK 8 131415702 131415702 single base substitution A G upstream_gene_variant ESAD-UK 8 131416437 131416440 deletion of <=200bp AATA - intron_variant ESAD-UK 8 131416437 131416440 deletion of <=200bp AATA - upstream_gene_variant ESAD-UK 8 131416951 131416951 single base substitution T A intron_variant ESAD-UK 8 131416951 131416951 single base substitution T A upstream_gene_variant ESAD-UK 8 131417417 131417417 single base substitution G C intron_variant ESAD-UK 8 131417417 131417417 single base substitution G C upstream_gene_variant ESAD-UK 8 131417673 131417673 single base substitution C T intron_variant ESAD-UK 8 131417673 131417673 single base substitution C T upstream_gene_variant ESAD-UK 8 131417822 131417822 single base substitution C T intron_variant ESAD-UK 8 131417822 131417822 single base substitution C T upstream_gene_variant ESAD-UK 8 131418496 131418496 insertion of <=200bp - ATTC intron_variant ESAD-UK 8 131418496 131418496 insertion of <=200bp - ATTC upstream_gene_variant ESAD-UK 8 131418571 131418571 single base substitution G A intron_variant ESAD-UK 8 131418571 131418571 single base substitution G A upstream_gene_variant ESAD-UK 8 131418854 131418854 single base substitution A C intron_variant ESAD-UK 8 131418854 131418854 single base substitution A C upstream_gene_variant ESAD-UK 8 131420565 131420565 single base substitution C A intron_variant ESAD-UK 8 131421458 131421458 single base substitution A C intron_variant ESAD-UK 8 131422649 131422649 single base substitution A G intron_variant ESAD-UK 8 131423193 131423193 single base substitution G A intron_variant ESAD-UK 8 131424072 131424072 single base substitution G A intron_variant ESAD-UK 8 131424166 131424166 single base substitution C A intron_variant ESAD-UK 8 131424690 131424690 single base substitution C T intron_variant ESAD-UK 8 131424960 131424960 single base substitution C A intron_variant ESAD-UK 8 131425620 131425620 single base substitution G A intron_variant ESAD-UK 8 131425894 131425894 single base substitution C T intron_variant ESAD-UK 8 131426677 131426677 single base substitution A T intron_variant ESAD-UK 8 131428254 131428254 single base substitution T G intron_variant ESAD-UK 8 131428356 131428356 single base substitution C A intron_variant ESAD-UK 8 131428537 131428537 single base substitution C T intron_variant ESAD-UK 8 131429337 131429337 single base substitution C A intron_variant ESAD-UK 8 131429772 131429772 single base substitution G A intron_variant ESAD-UK 8 131431987 131431987 single base substitution C T intron_variant ESAD-UK 8 131432326 131432326 single base substitution C A intron_variant ESAD-UK 8 131434343 131434343 single base substitution G A intron_variant ESAD-UK 8 131435381 131435381 single base substitution G A intron_variant ESAD-UK 8 131435589 131435589 single base substitution C T intron_variant ESAD-UK 8 131437126 131437126 single base substitution C A intron_variant ESAD-UK 8 131437264 131437264 deletion of <=200bp A - intron_variant ESAD-UK 8 131438535 131438535 single base substitution C T intron_variant ESAD-UK 8 131439184 131439184 single base substitution C A intron_variant ESAD-UK 8 131439339 131439339 single base substitution G A intron_variant ESAD-UK 8 131441768 131441768 single base substitution A C intron_variant ESAD-UK 8 131441768 131441768 single base substitution A C upstream_gene_variant ESAD-UK 8 131441799 131441799 single base substitution A G intron_variant ESAD-UK 8 131441799 131441799 single base substitution A G upstream_gene_variant ESAD-UK 8 131442716 131442716 single base substitution G A intron_variant ESAD-UK 8 131442716 131442716 single base substitution G A upstream_gene_variant ESAD-UK 8 131444981 131444981 single base substitution T G intron_variant ESAD-UK 8 131444981 131444981 single base substitution T G upstream_gene_variant ESAD-UK 8 131445310 131445310 single base substitution G A intron_variant ESAD-UK 8 131445616 131445616 single base substitution T G intron_variant ESAD-UK 8 131446648 131446648 single base substitution G T intron_variant ESAD-UK 8 131447023 131447023 single base substitution G A intron_variant ESAD-UK 8 131447051 131447051 single base substitution C T intron_variant ESAD-UK 8 131447295 131447295 single base substitution C A intron_variant ESAD-UK 8 131448136 131448136 single base substitution A G intron_variant ESAD-UK 8 131448491 131448491 single base substitution C T intron_variant ESAD-UK 8 131449629 131449629 single base substitution G T intron_variant ESAD-UK 8 131449792 131449792 single base substitution G A intron_variant ESAD-UK 8 131450082 131450082 single base substitution G T intron_variant ESAD-UK 8 131450314 131450314 single base substitution G A intron_variant ESAD-UK 8 131451233 131451233 single base substitution T G intron_variant ESAD-UK 8 131451551 131451551 single base substitution C A intron_variant ESAD-UK 8 131451836 131451836 deletion of <=200bp G - intron_variant ESAD-UK 8 131451882 131451882 single base substitution A C intron_variant ESAD-UK 8 131451883 131451883 single base substitution G C intron_variant ESAD-UK 8 131451932 131451932 single base substitution G A intron_variant ESAD-UK 8 131452809 131452809 single base substitution T G intron_variant ESAD-UK 8 131453547 131453547 single base substitution G A intron_variant ESAD-UK 8 131454095 131454095 single base substitution A C intron_variant ESAD-UK 8 131455884 131455884 single base substitution A G 5_prime_UTR_variant ESAD-UK 8 131455884 131455884 single base substitution A G upstream_gene_variant ESAD-UK 8 131455974 131455974 single base substitution C T upstream_gene_variant ESAD-UK 8 131456067 131456067 single base substitution G A upstream_gene_variant ESAD-UK 8 131456076 131456076 single base substitution G A upstream_gene_variant ESAD-UK 8 131457537 131457537 single base substitution A G upstream_gene_variant ESAD-UK 8 131458511 131458511 insertion of <=200bp - A upstream_gene_variant ESAD-UK 8 131458801 131458801 single base substitution G T upstream_gene_variant ESAD-UK 8 131459363 131459363 single base substitution G A upstream_gene_variant ESAD-UK 8 131459640 131459640 single base substitution C T upstream_gene_variant ESCA-CN 8 131179874 131179874 deletion of <=200bp A - splice_region_variant ESCA-CN 8 131200303 131200303 insertion of <=200bp - AC intron_variant GBM-US 8 131124496 131124496 single base substitution C G 3_prime_UTR_variant GBM-US 8 131124496 131124496 single base substitution C G downstream_gene_variant GBM-US 8 131124496 131124496 single base substitution C G exon_variant GBM-US 8 131124496 131124496 single base substitution C G missense_variant D162H 484G>C GBM-US 8 131124496 131124496 single base substitution C G missense_variant D569H 1705G>C GBM-US 8 131124496 131124496 single base substitution C G missense_variant D749H 2245G>C GBM-US 8 131140283 131140283 single base substitution C T 3_prime_UTR_variant GBM-US 8 131140283 131140283 single base substitution C T missense_variant R244H 731G>A GBM-US 8 131140283 131140283 single base substitution C T missense_variant R424H 1271G>A GBM-US 8 131414154 131414154 single base substitution C A exon_variant GBM-US 8 131414154 131414154 single base substitution C A synonymous_variant S12S 36G>T KIRC-US 8 131073178 131073178 single base substitution C G 3_prime_UTR_variant KIRC-US 8 131073178 131073178 single base substitution C G missense_variant A303P 907G>C KIRC-US 8 131073178 131073178 single base substitution C G missense_variant A767P 2299G>C KIRC-US 8 131073178 131073178 single base substitution C G missense_variant A947P 2839G>C KIRC-US 8 131073179 131073179 single base substitution C G 3_prime_UTR_variant KIRC-US 8 131073179 131073179 single base substitution C G synonymous_variant L302L 906G>C KIRC-US 8 131073179 131073179 single base substitution C G synonymous_variant L766L 2298G>C KIRC-US 8 131073179 131073179 single base substitution C G synonymous_variant L946L 2838G>C KIRC-US 8 131130417 131130417 single base substitution C A 3_prime_UTR_variant KIRC-US 8 131130417 131130417 single base substitution C A exon_variant KIRC-US 8 131130417 131130417 single base substitution C A missense_variant V37L 109G>T KIRC-US 8 131130417 131130417 single base substitution C A missense_variant V444L 1330G>T KIRC-US 8 131130417 131130417 single base substitution C A missense_variant V624L 1870G>T KIRC-US 8 131136342 131136342 single base substitution C G 3_prime_UTR_variant KIRC-US 8 131136342 131136342 single base substitution C G missense_variant K328N 984G>C KIRC-US 8 131136342 131136342 single base substitution C G missense_variant K508N 1524G>C LAML-KR 8 131061254 131061254 single base substitution A G downstream_gene_variant LAML-KR 8 131061275 131061275 single base substitution A G downstream_gene_variant LAML-KR 8 131155672 131155672 single base substitution G T intron_variant LAML-KR 8 131324708 131324708 single base substitution C T intron_variant LAML-KR 8 131412468 131412468 single base substitution T C intron_variant LGG-US 8 131149272 131149272 single base substitution G T 3_prime_UTR_variant LGG-US 8 131149272 131149272 single base substitution G T missense_variant P185T 553C>A LGG-US 8 131149272 131149272 single base substitution G T missense_variant P365T 1093C>A LGG-US 8 131370312 131370312 single base substitution A C 3_prime_UTR_variant LGG-US 8 131370312 131370312 single base substitution A C downstream_gene_variant LGG-US 8 131370312 131370312 single base substitution A C missense_variant F39C 116T>G LGG-US 8 131370312 131370312 single base substitution A C missense_variant F46C 137T>G LICA-FR 8 131059579 131059579 single base substitution G A downstream_gene_variant LICA-FR 8 131061992 131061992 single base substitution G A downstream_gene_variant LICA-FR 8 131062375 131062375 single base substitution G A downstream_gene_variant LICA-FR 8 131062764 131062764 single base substitution A C downstream_gene_variant LICA-FR 8 131062850 131062850 single base substitution G A downstream_gene_variant LICA-FR 8 131083377 131083377 single base substitution T A intron_variant LICA-FR 8 131084311 131084311 single base substitution A C downstream_gene_variant LICA-FR 8 131084311 131084311 single base substitution A C intron_variant LICA-FR 8 131094212 131094212 single base substitution T A intron_variant LICA-FR 8 131111135 131111135 single base substitution C A intron_variant LICA-FR 8 131122469 131122469 single base substitution C G intron_variant LICA-FR 8 131162550 131162550 single base substitution T A downstream_gene_variant LICA-FR 8 131162550 131162550 single base substitution T A intron_variant LICA-FR 8 131170595 131170595 insertion of <=200bp - A intron_variant LICA-FR 8 131175815 131175815 single base substitution T C intron_variant LICA-FR 8 131175815 131175815 single base substitution T C upstream_gene_variant LICA-FR 8 131187406 131187406 single base substitution T C downstream_gene_variant LICA-FR 8 131187406 131187406 single base substitution T C intron_variant LICA-FR 8 131207776 131207776 insertion of <=200bp - A intron_variant LICA-FR 8 131215498 131215498 single base substitution T C intron_variant LICA-FR 8 131241758 131241758 single base substitution T C intron_variant LICA-FR 8 131257597 131257597 single base substitution T A intron_variant LICA-FR 8 131280737 131280737 insertion of <=200bp - ACACAC intron_variant LICA-FR 8 131285697 131285697 single base substitution G A intron_variant LICA-FR 8 131297990 131297990 single base substitution C G intron_variant LICA-FR 8 131322565 131322565 single base substitution T A intron_variant LICA-FR 8 131323541 131323541 single base substitution G T intron_variant LICA-FR 8 131329617 131329617 single base substitution C G intron_variant LICA-FR 8 131351510 131351510 single base substitution T G intron_variant LICA-FR 8 131365472 131365472 single base substitution T C intron_variant LICA-FR 8 131366920 131366920 single base substitution T C intron_variant LICA-FR 8 131385776 131385776 single base substitution C A intron_variant LICA-FR 8 131392643 131392643 single base substitution G A intron_variant LICA-FR 8 131412175 131412175 single base substitution C A intron_variant LICA-FR 8 131419879 131419879 single base substitution C T intron_variant LICA-FR 8 131425198 131425198 single base substitution T A intron_variant LICA-FR 8 131429367 131429367 single base substitution C A intron_variant LICA-FR 8 131431748 131431748 single base substitution T A intron_variant LICA-FR 8 131452902 131452902 single base substitution G A intron_variant LIHC-US 8 131104271 131104271 single base substitution G T 3_prime_UTR_variant LIHC-US 8 131104271 131104271 single base substitution G T exon_variant LIHC-US 8 131104271 131104271 single base substitution G T intron_variant LIHC-US 8 131104271 131104271 single base substitution G T missense_variant D660E 1980C>A LIHC-US 8 131104271 131104271 single base substitution G T missense_variant D840E 2520C>A LIHC-US 8 131130809 131130809 single base substitution T A 3_prime_UTR_variant LIHC-US 8 131130809 131130809 single base substitution T A exon_variant LIHC-US 8 131130809 131130809 single base substitution T A missense_variant R394W 1180A>T LIHC-US 8 131130809 131130809 single base substitution T A missense_variant R574W 1720A>T LIHC-US 8 131130809 131130809 single base substitution T A upstream_gene_variant LIHC-US 8 131130888 131130888 single base substitution A G 3_prime_UTR_variant LIHC-US 8 131130888 131130888 single base substitution A G exon_variant LIHC-US 8 131130888 131130888 single base substitution A G synonymous_variant Y367Y 1101T>C LIHC-US 8 131130888 131130888 single base substitution A G synonymous_variant Y547Y 1641T>C LIHC-US 8 131130888 131130888 single base substitution A G upstream_gene_variant LIHC-US 8 131164981 131164981 single base substitution C T downstream_gene_variant LIHC-US 8 131164981 131164981 single base substitution C T exon_variant LIHC-US 8 131164981 131164981 single base substitution C T splice_donor_variant LIHC-US 8 131181257 131181257 single base substitution A C 3_prime_UTR_variant LIHC-US 8 131181257 131181257 single base substitution A C missense_variant L238R 713T>G LIHC-US 8 131181257 131181257 single base substitution A C missense_variant L268R 803T>G LIHC-US 8 131181257 131181257 single base substitution A C missense_variant L85R 254T>G LINC-JP 8 131063141 131063141 single base substitution T C downstream_gene_variant LINC-JP 8 131066039 131066039 single base substitution G C 3_prime_UTR_variant LINC-JP 8 131066039 131066039 single base substitution G C downstream_gene_variant LINC-JP 8 131070082 131070082 single base substitution A T intron_variant LINC-JP 8 131085743 131085743 single base substitution G A downstream_gene_variant LINC-JP 8 131085743 131085743 single base substitution G A intron_variant LINC-JP 8 131086534 131086534 single base substitution C G downstream_gene_variant LINC-JP 8 131086534 131086534 single base substitution C G intron_variant LINC-JP 8 131091917 131091917 single base substitution C G intron_variant LINC-JP 8 131099113 131099113 single base substitution T C intron_variant LINC-JP 8 131105936 131105936 single base substitution G A intron_variant LINC-JP 8 131118445 131118445 deletion of <=200bp A - intron_variant LINC-JP 8 131119426 131119426 single base substitution C T intron_variant LINC-JP 8 131123598 131123598 deletion of <=200bp A - downstream_gene_variant LINC-JP 8 131123598 131123598 deletion of <=200bp A - intron_variant LINC-JP 8 131129010 131129010 single base substitution T C intron_variant LINC-JP 8 131129010 131129010 single base substitution T C upstream_gene_variant LINC-JP 8 131129258 131129258 single base substitution T C intron_variant LINC-JP 8 131129258 131129258 single base substitution T C upstream_gene_variant LINC-JP 8 131134706 131134706 single base substitution T C intron_variant LINC-JP 8 131134706 131134706 single base substitution T C upstream_gene_variant LINC-JP 8 131138126 131138126 single base substitution A G intron_variant LINC-JP 8 131143439 131143439 single base substitution A C intron_variant LINC-JP 8 131194070 131194070 single base substitution T A intron_variant LINC-JP 8 131194070 131194070 single base substitution T A upstream_gene_variant LINC-JP 8 131216032 131216032 single base substitution G C intron_variant LINC-JP 8 131226748 131226748 single base substitution C T downstream_gene_variant LINC-JP 8 131226748 131226748 single base substitution C T intron_variant LINC-JP 8 131226851 131226851 single base substitution A T 3_prime_UTR_variant LINC-JP 8 131226851 131226851 single base substitution A T 5_prime_UTR_variant LINC-JP 8 131226851 131226851 single base substitution A T downstream_gene_variant LINC-JP 8 131226851 131226851 single base substitution A T exon_variant LINC-JP 8 131226851 131226851 single base substitution A T missense_variant V119D 356T>A LINC-JP 8 131226851 131226851 single base substitution A T missense_variant V89D 266T>A LINC-JP 8 131226873 131226873 single base substitution G A 3_prime_UTR_variant LINC-JP 8 131226873 131226873 single base substitution G A 5_prime_UTR_variant LINC-JP 8 131226873 131226873 single base substitution G A downstream_gene_variant LINC-JP 8 131226873 131226873 single base substitution G A exon_variant LINC-JP 8 131226873 131226873 single base substitution G A missense_variant P112S 334C>T LINC-JP 8 131226873 131226873 single base substitution G A missense_variant P82S 244C>T LINC-JP 8 131226873 131226873 single base substitution G A upstream_gene_variant LINC-JP 8 131227145 131227145 single base substitution A T intron_variant LINC-JP 8 131227145 131227145 single base substitution A T upstream_gene_variant LINC-JP 8 131234509 131234509 single base substitution T A intron_variant LINC-JP 8 131238017 131238017 single base substitution C A intron_variant LINC-JP 8 131245775 131245775 single base substitution T A intron_variant LINC-JP 8 131249269 131249269 single base substitution T C intron_variant LINC-JP 8 131249269 131249269 single base substitution T C upstream_gene_variant LINC-JP 8 131258435 131258435 single base substitution A C intron_variant LINC-JP 8 131259828 131259828 single base substitution A C intron_variant LINC-JP 8 131259828 131259828 single base substitution A C upstream_gene_variant LINC-JP 8 131266959 131266959 single base substitution T A intron_variant LINC-JP 8 131272651 131272651 single base substitution G C intron_variant LINC-JP 8 131280962 131280962 single base substitution A C intron_variant LINC-JP 8 131292773 131292773 single base substitution T C intron_variant LINC-JP 8 131295920 131295920 single base substitution G T intron_variant LINC-JP 8 131316197 131316197 single base substitution A T intron_variant LINC-JP 8 131328059 131328059 single base substitution C A intron_variant LINC-JP 8 131329029 131329029 single base substitution G T intron_variant LINC-JP 8 131337735 131337735 single base substitution A C intron_variant LINC-JP 8 131351618 131351618 single base substitution G A intron_variant LINC-JP 8 131353139 131353139 single base substitution T C intron_variant LINC-JP 8 131353139 131353139 single base substitution T C synonymous_variant A15A 45A>G LINC-JP 8 131353339 131353339 single base substitution A G intron_variant LINC-JP 8 131353339 131353339 single base substitution A G upstream_gene_variant LINC-JP 8 131358876 131358876 single base substitution T G intron_variant LINC-JP 8 131382212 131382212 single base substitution C A intron_variant LINC-JP 8 131395433 131395433 single base substitution T C intron_variant LINC-JP 8 131395827 131395827 single base substitution C G intron_variant LINC-JP 8 131419713 131419713 single base substitution G T intron_variant LINC-JP 8 131419975 131419975 single base substitution C T intron_variant LINC-JP 8 131429047 131429047 single base substitution A G intron_variant LINC-JP 8 131445808 131445808 single base substitution A C intron_variant LINC-JP 8 131447785 131447785 single base substitution A T intron_variant LINC-JP 8 131448495 131448495 single base substitution A G intron_variant LINC-JP 8 131458318 131458318 single base substitution C T upstream_gene_variant LINC-JP 8 131459439 131459439 single base substitution G A upstream_gene_variant LINC-JP 8 131460181 131460181 single base substitution G A upstream_gene_variant LIRI-JP 8 131059512 131059512 single base substitution T C downstream_gene_variant LIRI-JP 8 131064188 131064188 single base substitution C A downstream_gene_variant LIRI-JP 8 131065302 131065302 single base substitution T G 3_prime_UTR_variant LIRI-JP 8 131065302 131065302 single base substitution T G downstream_gene_variant LIRI-JP 8 131066398 131066398 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 131066398 131066398 single base substitution G A downstream_gene_variant LIRI-JP 8 131066421 131066421 single base substitution A C 3_prime_UTR_variant LIRI-JP 8 131066421 131066421 single base substitution A C downstream_gene_variant LIRI-JP 8 131067366 131067366 single base substitution C A intron_variant LIRI-JP 8 131073061 131073061 single base substitution T G 3_prime_UTR_variant LIRI-JP 8 131073061 131073061 single base substitution T G missense_variant M342L 1024A>C LIRI-JP 8 131073061 131073061 single base substitution T G missense_variant M806L 2416A>C LIRI-JP 8 131073061 131073061 single base substitution T G missense_variant M986L 2956A>C LIRI-JP 8 131073518 131073518 single base substitution A G intron_variant LIRI-JP 8 131074732 131074732 single base substitution G A intron_variant LIRI-JP 8 131076462 131076462 single base substitution A C intron_variant LIRI-JP 8 131076533 131076533 single base substitution T A intron_variant LIRI-JP 8 131078055 131078055 single base substitution C A intron_variant LIRI-JP 8 131079372 131079372 single base substitution T A intron_variant LIRI-JP 8 131080767 131080767 single base substitution G C intron_variant LIRI-JP 8 131081355 131081355 single base substitution C T intron_variant LIRI-JP 8 131082585 131082585 single base substitution C T intron_variant LIRI-JP 8 131082985 131082985 single base substitution T C intron_variant LIRI-JP 8 131084400 131084400 single base substitution G A downstream_gene_variant LIRI-JP 8 131084400 131084400 single base substitution G A intron_variant LIRI-JP 8 131085947 131085947 single base substitution C T downstream_gene_variant LIRI-JP 8 131085947 131085947 single base substitution C T intron_variant LIRI-JP 8 131093906 131093907 deletion of <=200bp TA - intron_variant LIRI-JP 8 131097103 131097103 single base substitution A G intron_variant LIRI-JP 8 131097336 131097336 single base substitution C T intron_variant LIRI-JP 8 131097499 131097499 single base substitution A C intron_variant LIRI-JP 8 131098129 131098129 single base substitution A T intron_variant LIRI-JP 8 131099068 131099068 single base substitution G C intron_variant LIRI-JP 8 131099764 131099764 single base substitution G A intron_variant LIRI-JP 8 131106208 131106208 single base substitution A T intron_variant LIRI-JP 8 131107425 131107425 single base substitution C A intron_variant LIRI-JP 8 131111298 131111298 single base substitution C A intron_variant LIRI-JP 8 131113015 131113015 single base substitution T C intron_variant LIRI-JP 8 131114194 131114194 single base substitution C A intron_variant LIRI-JP 8 131116447 131116447 single base substitution G T intron_variant LIRI-JP 8 131118770 131118770 single base substitution C T intron_variant LIRI-JP 8 131119578 131119578 single base substitution T C intron_variant LIRI-JP 8 131121285 131121285 single base substitution T C intron_variant LIRI-JP 8 131122491 131122491 single base substitution T C intron_variant LIRI-JP 8 131122749 131122749 insertion of <=200bp - AGC intron_variant LIRI-JP 8 131123743 131123743 single base substitution T A downstream_gene_variant LIRI-JP 8 131123743 131123743 single base substitution T A intron_variant LIRI-JP 8 131124032 131124032 single base substitution C T downstream_gene_variant LIRI-JP 8 131124032 131124032 single base substitution C T intron_variant LIRI-JP 8 131126386 131126386 single base substitution T G downstream_gene_variant LIRI-JP 8 131126386 131126386 single base substitution T G intron_variant LIRI-JP 8 131126386 131126386 single base substitution T G upstream_gene_variant LIRI-JP 8 131127870 131127870 single base substitution T C exon_variant LIRI-JP 8 131127870 131127870 single base substitution T C splice_region_variant LIRI-JP 8 131127870 131127870 single base substitution T C upstream_gene_variant LIRI-JP 8 131128456 131128456 single base substitution T A intron_variant LIRI-JP 8 131128456 131128456 single base substitution T A upstream_gene_variant LIRI-JP 8 131128627 131128627 single base substitution T C intron_variant LIRI-JP 8 131128627 131128627 single base substitution T C upstream_gene_variant LIRI-JP 8 131130080 131130080 single base substitution T C intron_variant LIRI-JP 8 131131493 131131493 single base substitution T C intron_variant LIRI-JP 8 131131493 131131493 single base substitution T C upstream_gene_variant LIRI-JP 8 131132224 131132224 single base substitution C A intron_variant LIRI-JP 8 131132224 131132224 single base substitution C A upstream_gene_variant LIRI-JP 8 131139052 131139052 single base substitution C T intron_variant LIRI-JP 8 131139759 131139759 single base substitution T C intron_variant LIRI-JP 8 131144021 131144021 single base substitution G A intron_variant LIRI-JP 8 131144257 131144257 single base substitution T C intron_variant LIRI-JP 8 131150369 131150369 single base substitution T C intron_variant LIRI-JP 8 131151379 131151379 single base substitution G A intron_variant LIRI-JP 8 131152350 131152350 single base substitution A G intron_variant LIRI-JP 8 131153428 131153428 single base substitution G A intron_variant LIRI-JP 8 131154395 131154395 single base substitution A C intron_variant LIRI-JP 8 131156732 131156732 single base substitution A C intron_variant LIRI-JP 8 131156942 131156942 single base substitution G T intron_variant LIRI-JP 8 131157054 131157054 single base substitution T C intron_variant LIRI-JP 8 131158334 131158334 single base substitution G A intron_variant LIRI-JP 8 131159662 131159662 single base substitution G C intron_variant LIRI-JP 8 131160950 131160950 single base substitution T A downstream_gene_variant LIRI-JP 8 131160950 131160950 single base substitution T A intron_variant LIRI-JP 8 131161904 131161904 single base substitution G C downstream_gene_variant LIRI-JP 8 131161904 131161904 single base substitution G C intron_variant LIRI-JP 8 131161923 131161923 single base substitution T G downstream_gene_variant LIRI-JP 8 131161923 131161923 single base substitution T G intron_variant LIRI-JP 8 131162571 131162571 single base substitution G A downstream_gene_variant LIRI-JP 8 131162571 131162571 single base substitution G A intron_variant LIRI-JP 8 131163254 131163254 single base substitution T C downstream_gene_variant LIRI-JP 8 131163254 131163254 single base substitution T C intron_variant LIRI-JP 8 131163867 131163867 single base substitution G T downstream_gene_variant LIRI-JP 8 131163867 131163867 single base substitution G T intron_variant LIRI-JP 8 131166154 131166154 single base substitution A G intron_variant LIRI-JP 8 131166309 131166309 single base substitution C G intron_variant LIRI-JP 8 131168438 131168438 single base substitution C T intron_variant LIRI-JP 8 131168439 131168439 single base substitution G A intron_variant LIRI-JP 8 131169604 131169604 single base substitution A G intron_variant LIRI-JP 8 131170715 131170715 single base substitution T C intron_variant LIRI-JP 8 131171433 131171433 single base substitution C G intron_variant LIRI-JP 8 131172494 131172494 single base substitution T C intron_variant LIRI-JP 8 131172494 131172494 single base substitution T C upstream_gene_variant LIRI-JP 8 131172988 131172988 single base substitution A G intron_variant LIRI-JP 8 131172988 131172988 single base substitution A G upstream_gene_variant LIRI-JP 8 131173339 131173339 single base substitution T C intron_variant LIRI-JP 8 131173339 131173339 single base substitution T C upstream_gene_variant LIRI-JP 8 131174981 131174981 single base substitution G A intron_variant LIRI-JP 8 131174981 131174981 single base substitution G A upstream_gene_variant LIRI-JP 8 131178900 131178900 single base substitution C T intron_variant LIRI-JP 8 131179315 131179315 single base substitution C T intron_variant LIRI-JP 8 131180460 131180460 single base substitution A C intron_variant LIRI-JP 8 131180610 131180610 single base substitution C A intron_variant LIRI-JP 8 131181743 131181743 single base substitution A C intron_variant LIRI-JP 8 131181777 131181777 single base substitution C A intron_variant LIRI-JP 8 131184828 131184828 single base substitution T C intron_variant LIRI-JP 8 131189590 131189590 single base substitution T C downstream_gene_variant LIRI-JP 8 131189590 131189590 single base substitution T C intron_variant LIRI-JP 8 131191439 131191439 single base substitution G C downstream_gene_variant LIRI-JP 8 131191439 131191439 single base substitution G C exon_variant LIRI-JP 8 131191439 131191439 single base substitution G C intron_variant LIRI-JP 8 131191846 131191846 single base substitution C T downstream_gene_variant LIRI-JP 8 131191846 131191846 single base substitution C T intron_variant LIRI-JP 8 131193665 131193665 single base substitution G A intron_variant LIRI-JP 8 131193665 131193665 single base substitution G A upstream_gene_variant LIRI-JP 8 131194510 131194510 single base substitution A G intron_variant LIRI-JP 8 131194510 131194510 single base substitution A G upstream_gene_variant LIRI-JP 8 131196778 131196778 single base substitution A G intron_variant LIRI-JP 8 131196778 131196778 single base substitution A G upstream_gene_variant LIRI-JP 8 131197157 131197157 single base substitution C G intron_variant LIRI-JP 8 131197157 131197157 single base substitution C G upstream_gene_variant LIRI-JP 8 131200065 131200065 single base substitution G A intron_variant LIRI-JP 8 131200495 131200495 single base substitution C T intron_variant LIRI-JP 8 131201179 131201179 single base substitution G T intron_variant LIRI-JP 8 131201790 131201790 single base substitution C T intron_variant LIRI-JP 8 131203033 131203033 single base substitution A T downstream_gene_variant LIRI-JP 8 131203033 131203033 single base substitution A T intron_variant LIRI-JP 8 131205146 131205146 single base substitution A T downstream_gene_variant LIRI-JP 8 131205146 131205146 single base substitution A T intron_variant LIRI-JP 8 131205662 131205662 single base substitution T C downstream_gene_variant LIRI-JP 8 131205662 131205662 single base substitution T C intron_variant LIRI-JP 8 131206486 131206486 single base substitution T C downstream_gene_variant LIRI-JP 8 131206486 131206486 single base substitution T C intron_variant LIRI-JP 8 131207325 131207325 single base substitution G A downstream_gene_variant LIRI-JP 8 131207325 131207325 single base substitution G A intron_variant LIRI-JP 8 131207430 131207430 single base substitution G A exon_variant LIRI-JP 8 131207430 131207430 single base substitution G A intron_variant LIRI-JP 8 131208150 131208150 single base substitution T C intron_variant LIRI-JP 8 131208243 131208243 single base substitution C A intron_variant LIRI-JP 8 131210748 131210748 single base substitution C A intron_variant LIRI-JP 8 131210757 131210757 single base substitution T C intron_variant LIRI-JP 8 131210919 131210919 single base substitution G A intron_variant LIRI-JP 8 131213922 131213922 single base substitution T C intron_variant LIRI-JP 8 131214316 131214316 single base substitution C T intron_variant LIRI-JP 8 131215537 131215537 single base substitution C A intron_variant LIRI-JP 8 131216203 131216203 single base substitution T C intron_variant LIRI-JP 8 131216535 131216535 single base substitution C A intron_variant LIRI-JP 8 131216734 131216734 single base substitution G A intron_variant LIRI-JP 8 131216959 131216959 single base substitution G A intron_variant LIRI-JP 8 131216979 131216979 single base substitution C T intron_variant LIRI-JP 8 131219007 131219007 deletion of <=200bp G - intron_variant LIRI-JP 8 131219163 131219163 single base substitution T C intron_variant LIRI-JP 8 131219554 131219554 single base substitution T C intron_variant LIRI-JP 8 131219964 131219964 insertion of <=200bp - A intron_variant LIRI-JP 8 131221149 131221149 single base substitution C T intron_variant LIRI-JP 8 131222395 131222395 single base substitution T C downstream_gene_variant LIRI-JP 8 131222395 131222395 single base substitution T C intron_variant LIRI-JP 8 131222648 131222648 single base substitution T C downstream_gene_variant LIRI-JP 8 131222648 131222648 single base substitution T C intron_variant LIRI-JP 8 131223909 131223909 single base substitution A C downstream_gene_variant LIRI-JP 8 131223909 131223909 single base substitution A C intron_variant LIRI-JP 8 131226990 131226990 single base substitution T A intron_variant LIRI-JP 8 131226990 131226990 single base substitution T A upstream_gene_variant LIRI-JP 8 131229688 131229688 single base substitution C G intron_variant LIRI-JP 8 131229688 131229688 single base substitution C G upstream_gene_variant LIRI-JP 8 131231463 131231463 insertion of <=200bp - A intron_variant LIRI-JP 8 131231463 131231463 insertion of <=200bp - A upstream_gene_variant LIRI-JP 8 131231822 131231822 single base substitution G C intron_variant LIRI-JP 8 131231822 131231822 single base substitution G C upstream_gene_variant LIRI-JP 8 131233172 131233172 single base substitution G A intron_variant LIRI-JP 8 131234496 131234496 single base substitution C G intron_variant LIRI-JP 8 131236334 131236334 single base substitution T A intron_variant LIRI-JP 8 131237483 131237483 single base substitution G T intron_variant LIRI-JP 8 131237769 131237769 single base substitution A C intron_variant LIRI-JP 8 131238625 131238625 single base substitution C T intron_variant LIRI-JP 8 131238908 131238908 single base substitution T G intron_variant LIRI-JP 8 131240101 131240101 single base substitution C A intron_variant LIRI-JP 8 131243682 131243682 single base substitution T C intron_variant LIRI-JP 8 131245845 131245845 single base substitution C G intron_variant LIRI-JP 8 131245950 131245950 single base substitution T C intron_variant LIRI-JP 8 131247104 131247104 single base substitution T C intron_variant LIRI-JP 8 131248895 131248895 single base substitution T C intron_variant LIRI-JP 8 131249368 131249368 single base substitution T C intron_variant LIRI-JP 8 131249368 131249368 single base substitution T C upstream_gene_variant LIRI-JP 8 131250464 131250464 deletion of <=200bp T - intron_variant LIRI-JP 8 131250464 131250464 deletion of <=200bp T - upstream_gene_variant LIRI-JP 8 131251179 131251179 single base substitution C A intron_variant LIRI-JP 8 131251179 131251179 single base substitution C A upstream_gene_variant LIRI-JP 8 131251854 131251854 single base substitution T C intron_variant LIRI-JP 8 131251854 131251854 single base substitution T C upstream_gene_variant LIRI-JP 8 131252574 131252574 single base substitution G A intron_variant LIRI-JP 8 131252574 131252574 single base substitution G A upstream_gene_variant LIRI-JP 8 131252779 131252779 single base substitution G A intron_variant LIRI-JP 8 131252779 131252779 single base substitution G A upstream_gene_variant LIRI-JP 8 131252880 131252880 single base substitution G T intron_variant LIRI-JP 8 131252880 131252880 single base substitution G T upstream_gene_variant LIRI-JP 8 131253416 131253416 single base substitution T A intron_variant LIRI-JP 8 131253416 131253416 single base substitution T A upstream_gene_variant LIRI-JP 8 131255163 131255163 single base substitution C A intron_variant LIRI-JP 8 131255426 131255426 single base substitution G C intron_variant LIRI-JP 8 131257025 131257025 single base substitution C G intron_variant LIRI-JP 8 131258963 131258963 single base substitution C T intron_variant LIRI-JP 8 131262438 131262438 deletion of <=200bp T - intron_variant LIRI-JP 8 131262438 131262438 deletion of <=200bp T - upstream_gene_variant LIRI-JP 8 131262706 131262706 single base substitution T C intron_variant LIRI-JP 8 131262706 131262706 single base substitution T C upstream_gene_variant LIRI-JP 8 131263658 131263658 single base substitution T G intron_variant LIRI-JP 8 131263658 131263658 single base substitution T G upstream_gene_variant LIRI-JP 8 131267062 131267065 deletion of <=200bp TGAA - intron_variant LIRI-JP 8 131267792 131267792 single base substitution G A intron_variant LIRI-JP 8 131268035 131268035 single base substitution T A intron_variant LIRI-JP 8 131268810 131268810 single base substitution A T intron_variant LIRI-JP 8 131269351 131269351 single base substitution T C intron_variant LIRI-JP 8 131272104 131272104 single base substitution A C intron_variant LIRI-JP 8 131272149 131272149 single base substitution T C intron_variant LIRI-JP 8 131273490 131273490 single base substitution T C intron_variant LIRI-JP 8 131276375 131276375 single base substitution A G intron_variant LIRI-JP 8 131277159 131277159 single base substitution C T intron_variant LIRI-JP 8 131278766 131278766 single base substitution C T intron_variant LIRI-JP 8 131279854 131279854 single base substitution C T intron_variant LIRI-JP 8 131282199 131282199 single base substitution T A intron_variant LIRI-JP 8 131283626 131283626 single base substitution C T intron_variant LIRI-JP 8 131283909 131283909 single base substitution A C intron_variant LIRI-JP 8 131284101 131284101 single base substitution C T intron_variant LIRI-JP 8 131284184 131284184 single base substitution G T intron_variant LIRI-JP 8 131285953 131285953 single base substitution G C intron_variant LIRI-JP 8 131287667 131287667 single base substitution C A intron_variant LIRI-JP 8 131287706 131287706 single base substitution C T intron_variant LIRI-JP 8 131290020 131290041 deletion of <=200bp CCAGATTACATAAATGTCTTTG - intron_variant LIRI-JP 8 131290665 131290665 single base substitution G T intron_variant LIRI-JP 8 131290924 131290927 deletion of <=200bp TAAT - intron_variant LIRI-JP 8 131291820 131291820 single base substitution C T intron_variant LIRI-JP 8 131292951 131292951 single base substitution G C intron_variant LIRI-JP 8 131293906 131293906 single base substitution T C intron_variant LIRI-JP 8 131295416 131295416 single base substitution A C intron_variant LIRI-JP 8 131295475 131295475 single base substitution G A intron_variant LIRI-JP 8 131297880 131297880 single base substitution T C intron_variant LIRI-JP 8 131298537 131298537 single base substitution T C intron_variant LIRI-JP 8 131300112 131300112 single base substitution A G intron_variant LIRI-JP 8 131300400 131300400 single base substitution T A intron_variant LIRI-JP 8 131305259 131305259 single base substitution G A intron_variant LIRI-JP 8 131305470 131305470 single base substitution C T intron_variant LIRI-JP 8 131307473 131307473 single base substitution G C intron_variant LIRI-JP 8 131308609 131308609 single base substitution T C intron_variant LIRI-JP 8 131311672 131311672 single base substitution A G intron_variant LIRI-JP 8 131311870 131311870 single base substitution G A intron_variant LIRI-JP 8 131312564 131312564 single base substitution A T intron_variant LIRI-JP 8 131312704 131312704 single base substitution T C intron_variant LIRI-JP 8 131312898 131312898 single base substitution T A intron_variant LIRI-JP 8 131313825 131313825 single base substitution T C intron_variant LIRI-JP 8 131313911 131313911 single base substitution T C intron_variant LIRI-JP 8 131314067 131314067 single base substitution T C intron_variant LIRI-JP 8 131314219 131314219 single base substitution C T intron_variant LIRI-JP 8 131316311 131316311 single base substitution A G intron_variant LIRI-JP 8 131316636 131316636 single base substitution T C intron_variant LIRI-JP 8 131317072 131317072 single base substitution C T intron_variant LIRI-JP 8 131318161 131318161 single base substitution T A intron_variant LIRI-JP 8 131319778 131319778 single base substitution C T intron_variant LIRI-JP 8 131320145 131320145 single base substitution T A intron_variant LIRI-JP 8 131322228 131322228 single base substitution A C intron_variant LIRI-JP 8 131322233 131322233 single base substitution C A intron_variant LIRI-JP 8 131323114 131323114 single base substitution T A intron_variant LIRI-JP 8 131324969 131324969 single base substitution T C intron_variant LIRI-JP 8 131327217 131327217 single base substitution T G intron_variant LIRI-JP 8 131327567 131327567 single base substitution T C intron_variant LIRI-JP 8 131327675 131327675 single base substitution C T intron_variant LIRI-JP 8 131327902 131327902 single base substitution T A intron_variant LIRI-JP 8 131330422 131330422 single base substitution G T intron_variant LIRI-JP 8 131331826 131331826 single base substitution C T intron_variant LIRI-JP 8 131334297 131334297 single base substitution T C intron_variant LIRI-JP 8 131334910 131334910 single base substitution A T intron_variant LIRI-JP 8 131335156 131335156 single base substitution C T intron_variant LIRI-JP 8 131335731 131335731 single base substitution G A intron_variant LIRI-JP 8 131335870 131335870 single base substitution C A intron_variant LIRI-JP 8 131336398 131336398 single base substitution G A intron_variant LIRI-JP 8 131337352 131337352 single base substitution G A intron_variant LIRI-JP 8 131338451 131338480 deletion of <=200bp TATCCTTACTGCTGGAGACCGACAAATGAG - intron_variant LIRI-JP 8 131338813 131338813 single base substitution T G intron_variant LIRI-JP 8 131340789 131340789 single base substitution G A intron_variant LIRI-JP 8 131341899 131341899 single base substitution T C intron_variant LIRI-JP 8 131342639 131342639 single base substitution T C intron_variant LIRI-JP 8 131344423 131344423 single base substitution T C intron_variant LIRI-JP 8 131345219 131345220 deletion of <=200bp CA - intron_variant LIRI-JP 8 131347186 131347186 single base substitution C T intron_variant LIRI-JP 8 131347782 131347782 single base substitution G A intron_variant LIRI-JP 8 131348629 131348629 single base substitution T C intron_variant LIRI-JP 8 131349974 131349974 single base substitution T A intron_variant LIRI-JP 8 131350600 131350600 single base substitution C A intron_variant LIRI-JP 8 131351043 131351043 single base substitution T A intron_variant LIRI-JP 8 131351637 131351637 single base substitution G C intron_variant LIRI-JP 8 131352996 131352996 single base substitution T C intron_variant LIRI-JP 8 131354343 131354343 single base substitution G A intron_variant LIRI-JP 8 131354343 131354343 single base substitution G A upstream_gene_variant LIRI-JP 8 131355867 131355867 single base substitution G A intron_variant LIRI-JP 8 131355867 131355867 single base substitution G A upstream_gene_variant LIRI-JP 8 131357550 131357550 single base substitution T C intron_variant LIRI-JP 8 131357550 131357550 single base substitution T C upstream_gene_variant LIRI-JP 8 131360184 131360184 single base substitution G A intron_variant LIRI-JP 8 131360185 131360185 single base substitution G T intron_variant LIRI-JP 8 131362955 131362955 single base substitution G T intron_variant LIRI-JP 8 131364549 131364549 single base substitution C G intron_variant LIRI-JP 8 131365498 131365498 single base substitution A G intron_variant LIRI-JP 8 131365900 131365900 single base substitution G A intron_variant LIRI-JP 8 131366384 131366384 single base substitution C T intron_variant LIRI-JP 8 131366705 131366705 single base substitution T C intron_variant LIRI-JP 8 131367214 131367214 single base substitution C A intron_variant LIRI-JP 8 131367716 131367716 single base substitution C A intron_variant LIRI-JP 8 131367724 131367724 single base substitution G A intron_variant LIRI-JP 8 131368771 131368771 single base substitution T C downstream_gene_variant LIRI-JP 8 131368771 131368771 single base substitution T C intron_variant LIRI-JP 8 131371239 131371239 single base substitution C T downstream_gene_variant LIRI-JP 8 131371239 131371239 single base substitution C T intron_variant LIRI-JP 8 131371618 131371618 single base substitution A T downstream_gene_variant LIRI-JP 8 131371618 131371618 single base substitution A T intron_variant LIRI-JP 8 131373222 131373222 single base substitution G C exon_variant LIRI-JP 8 131373222 131373222 single base substitution G C intron_variant LIRI-JP 8 131375984 131375984 single base substitution T C intron_variant LIRI-JP 8 131376093 131376093 deletion of <=200bp T - intron_variant LIRI-JP 8 131376666 131376666 single base substitution T C intron_variant LIRI-JP 8 131377156 131377156 single base substitution C A intron_variant LIRI-JP 8 131377157 131377157 single base substitution C A intron_variant LIRI-JP 8 131381921 131381921 single base substitution A G intron_variant LIRI-JP 8 131386895 131386895 single base substitution C T intron_variant LIRI-JP 8 131388486 131388486 single base substitution C T intron_variant LIRI-JP 8 131388929 131388929 single base substitution G A intron_variant LIRI-JP 8 131390130 131390130 single base substitution T C intron_variant LIRI-JP 8 131391164 131391170 deletion of <=200bp ATATTAT - intron_variant LIRI-JP 8 131391579 131391579 single base substitution T A intron_variant LIRI-JP 8 131393576 131393576 single base substitution A C intron_variant LIRI-JP 8 131395087 131395087 single base substitution T C intron_variant LIRI-JP 8 131395755 131395755 single base substitution G A intron_variant LIRI-JP 8 131396090 131396090 single base substitution G T intron_variant LIRI-JP 8 131398878 131398878 single base substitution T C intron_variant LIRI-JP 8 131399220 131399220 single base substitution C A intron_variant LIRI-JP 8 131399220 131399220 single base substitution C A upstream_gene_variant LIRI-JP 8 131399242 131399242 single base substitution T C intron_variant LIRI-JP 8 131399242 131399242 single base substitution T C upstream_gene_variant LIRI-JP 8 131400074 131400074 single base substitution T C intron_variant LIRI-JP 8 131400074 131400074 single base substitution T C upstream_gene_variant LIRI-JP 8 131401818 131401818 single base substitution G A intron_variant LIRI-JP 8 131401818 131401818 single base substitution G A upstream_gene_variant LIRI-JP 8 131402334 131402334 single base substitution C T intron_variant LIRI-JP 8 131402334 131402334 single base substitution C T upstream_gene_variant LIRI-JP 8 131403184 131403184 single base substitution C T intron_variant LIRI-JP 8 131403184 131403184 single base substitution C T upstream_gene_variant LIRI-JP 8 131403320 131403320 single base substitution T C intron_variant LIRI-JP 8 131403320 131403320 single base substitution T C upstream_gene_variant LIRI-JP 8 131403823 131403823 single base substitution T A intron_variant LIRI-JP 8 131403823 131403823 single base substitution T A upstream_gene_variant LIRI-JP 8 131408515 131408515 single base substitution G C intron_variant LIRI-JP 8 131408633 131408633 single base substitution G A intron_variant LIRI-JP 8 131411143 131411143 single base substitution G A intron_variant LIRI-JP 8 131412678 131412678 single base substitution C A intron_variant LIRI-JP 8 131412681 131412681 single base substitution G C intron_variant LIRI-JP 8 131413203 131413203 single base substitution T G intron_variant LIRI-JP 8 131414383 131414383 single base substitution A T intron_variant LIRI-JP 8 131414383 131414383 single base substitution A T upstream_gene_variant LIRI-JP 8 131415182 131415182 single base substitution T G intron_variant LIRI-JP 8 131415182 131415182 single base substitution T G upstream_gene_variant LIRI-JP 8 131417722 131417722 single base substitution C G intron_variant LIRI-JP 8 131417722 131417722 single base substitution C G upstream_gene_variant LIRI-JP 8 131419833 131419833 single base substitution G A intron_variant LIRI-JP 8 131420059 131420059 single base substitution A G intron_variant LIRI-JP 8 131420290 131420290 single base substitution A C intron_variant LIRI-JP 8 131421022 131421022 single base substitution G T intron_variant LIRI-JP 8 131421625 131421625 single base substitution T A intron_variant LIRI-JP 8 131424360 131424360 single base substitution A G intron_variant LIRI-JP 8 131425441 131425441 single base substitution T G intron_variant LIRI-JP 8 131428156 131428161 deletion of <=200bp CCAGTC - intron_variant LIRI-JP 8 131431037 131431037 single base substitution A T intron_variant LIRI-JP 8 131431696 131431696 single base substitution T C intron_variant LIRI-JP 8 131432575 131432575 single base substitution T A intron_variant LIRI-JP 8 131435035 131435035 single base substitution G C intron_variant LIRI-JP 8 131435090 131435090 single base substitution T C intron_variant LIRI-JP 8 131436750 131436750 single base substitution C A intron_variant LIRI-JP 8 131437497 131437497 single base substitution G A intron_variant LIRI-JP 8 131438829 131438829 single base substitution T A intron_variant LIRI-JP 8 131438862 131438862 single base substitution C A intron_variant LIRI-JP 8 131440239 131440239 single base substitution A G intron_variant LIRI-JP 8 131440239 131440239 single base substitution A G upstream_gene_variant LIRI-JP 8 131442640 131442640 single base substitution C A intron_variant LIRI-JP 8 131442640 131442640 single base substitution C A upstream_gene_variant LIRI-JP 8 131447410 131447410 single base substitution G A intron_variant LIRI-JP 8 131447464 131447464 single base substitution T C intron_variant LIRI-JP 8 131448076 131448076 single base substitution C T intron_variant LIRI-JP 8 131448223 131448223 single base substitution C T intron_variant LIRI-JP 8 131448575 131448575 single base substitution C T intron_variant LIRI-JP 8 131448898 131448898 single base substitution A G intron_variant LIRI-JP 8 131449619 131449619 single base substitution C A intron_variant LIRI-JP 8 131452064 131452064 single base substitution C A intron_variant LIRI-JP 8 131452346 131452346 single base substitution C T intron_variant LIRI-JP 8 131452930 131452930 single base substitution C G intron_variant LIRI-JP 8 131453005 131453005 single base substitution C T intron_variant LIRI-JP 8 131453116 131453116 single base substitution G A intron_variant LIRI-JP 8 131453203 131453203 single base substitution C T intron_variant LIRI-JP 8 131453902 131453902 single base substitution C T intron_variant LIRI-JP 8 131454605 131454605 single base substitution G A intron_variant LIRI-JP 8 131456623 131456623 single base substitution A G upstream_gene_variant LIRI-JP 8 131460579 131460579 single base substitution G C upstream_gene_variant LUSC-KR 8 131062457 131062457 single base substitution A G downstream_gene_variant LUSC-KR 8 131062903 131062903 single base substitution C G downstream_gene_variant LUSC-KR 8 131071186 131071186 single base substitution T C intron_variant LUSC-KR 8 131072315 131072315 single base substitution C A intron_variant LUSC-KR 8 131072316 131072316 single base substitution C A intron_variant LUSC-KR 8 131078179 131078179 single base substitution T A intron_variant LUSC-KR 8 131082567 131082567 single base substitution G A intron_variant LUSC-KR 8 131083134 131083134 single base substitution A G intron_variant LUSC-KR 8 131090045 131090045 single base substitution C T intron_variant LUSC-KR 8 131094204 131094204 single base substitution C T intron_variant LUSC-KR 8 131094984 131094984 single base substitution G T intron_variant LUSC-KR 8 131099417 131099417 single base substitution C A intron_variant LUSC-KR 8 131103511 131103511 single base substitution A C intron_variant LUSC-KR 8 131106446 131106446 single base substitution T A intron_variant LUSC-KR 8 131107883 131107883 single base substitution G T intron_variant LUSC-KR 8 131109696 131109696 single base substitution C G intron_variant LUSC-KR 8 131109741 131109741 single base substitution C A intron_variant LUSC-KR 8 131119666 131119666 single base substitution C T intron_variant LUSC-KR 8 131121753 131121753 single base substitution C A intron_variant LUSC-KR 8 131124364 131124364 single base substitution G C 3_prime_UTR_variant LUSC-KR 8 131124364 131124364 single base substitution G C downstream_gene_variant LUSC-KR 8 131124364 131124364 single base substitution G C exon_variant LUSC-KR 8 131124364 131124364 single base substitution G C missense_variant L206V 616C>G LUSC-KR 8 131124364 131124364 single base substitution G C missense_variant L613V 1837C>G LUSC-KR 8 131124364 131124364 single base substitution G C missense_variant L793V 2377C>G LUSC-KR 8 131125124 131125124 single base substitution T C downstream_gene_variant LUSC-KR 8 131125124 131125124 single base substitution T C intron_variant LUSC-KR 8 131125124 131125124 single base substitution T C upstream_gene_variant LUSC-KR 8 131125719 131125719 single base substitution C G downstream_gene_variant LUSC-KR 8 131125719 131125719 single base substitution C G intron_variant LUSC-KR 8 131125719 131125719 single base substitution C G upstream_gene_variant LUSC-KR 8 131130594 131130594 single base substitution C T intron_variant LUSC-KR 8 131135942 131135942 single base substitution G A intron_variant LUSC-KR 8 131135942 131135942 single base substitution G A upstream_gene_variant LUSC-KR 8 131138218 131138218 single base substitution C T 3_prime_UTR_variant LUSC-KR 8 131138218 131138218 single base substitution C T missense_variant G320E 959G>A LUSC-KR 8 131138218 131138218 single base substitution C T missense_variant G500E 1499G>A LUSC-KR 8 131138344 131138344 single base substitution A C intron_variant LUSC-KR 8 131139174 131139174 single base substitution T A intron_variant LUSC-KR 8 131139175 131139175 single base substitution C G intron_variant LUSC-KR 8 131140921 131140921 single base substitution C A intron_variant LUSC-KR 8 131144310 131144310 single base substitution G A intron_variant LUSC-KR 8 131145114 131145114 single base substitution C T intron_variant LUSC-KR 8 131149414 131149414 single base substitution G C intron_variant LUSC-KR 8 131158790 131158790 single base substitution C G intron_variant LUSC-KR 8 131161385 131161385 single base substitution G A downstream_gene_variant LUSC-KR 8 131161385 131161385 single base substitution G A intron_variant LUSC-KR 8 131161386 131161386 single base substitution C A downstream_gene_variant LUSC-KR 8 131161386 131161386 single base substitution C A intron_variant LUSC-KR 8 131161391 131161391 single base substitution G A downstream_gene_variant LUSC-KR 8 131161391 131161391 single base substitution G A intron_variant LUSC-KR 8 131161889 131161889 single base substitution T C downstream_gene_variant LUSC-KR 8 131161889 131161889 single base substitution T C intron_variant LUSC-KR 8 131163685 131163685 single base substitution G C downstream_gene_variant LUSC-KR 8 131163685 131163685 single base substitution G C intron_variant LUSC-KR 8 131165086 131165086 single base substitution A T intron_variant LUSC-KR 8 131166414 131166414 single base substitution C G intron_variant LUSC-KR 8 131169453 131169453 single base substitution A G intron_variant LUSC-KR 8 131173774 131173774 single base substitution G A intron_variant LUSC-KR 8 131173774 131173774 single base substitution G A upstream_gene_variant LUSC-KR 8 131176362 131176362 single base substitution G A intron_variant LUSC-KR 8 131176362 131176362 single base substitution G A upstream_gene_variant LUSC-KR 8 131179384 131179384 single base substitution T C intron_variant LUSC-KR 8 131181624 131181624 single base substitution T A intron_variant LUSC-KR 8 131184331 131184331 single base substitution C T intron_variant LUSC-KR 8 131189343 131189343 single base substitution G C downstream_gene_variant LUSC-KR 8 131189343 131189343 single base substitution G C intron_variant LUSC-KR 8 131189608 131189608 single base substitution C G downstream_gene_variant LUSC-KR 8 131189608 131189608 single base substitution C G intron_variant LUSC-KR 8 131191219 131191219 single base substitution C A downstream_gene_variant LUSC-KR 8 131191219 131191219 single base substitution C A intron_variant LUSC-KR 8 131192470 131192470 single base substitution C T downstream_gene_variant LUSC-KR 8 131192470 131192470 single base substitution C T intron_variant LUSC-KR 8 131195735 131195735 single base substitution C A intron_variant LUSC-KR 8 131195735 131195735 single base substitution C A upstream_gene_variant LUSC-KR 8 131196548 131196548 single base substitution G A intron_variant LUSC-KR 8 131196548 131196548 single base substitution G A upstream_gene_variant LUSC-KR 8 131202270 131202270 single base substitution C T intron_variant LUSC-KR 8 131206682 131206682 single base substitution C T downstream_gene_variant LUSC-KR 8 131206682 131206682 single base substitution C T intron_variant LUSC-KR 8 131211580 131211580 single base substitution C G intron_variant LUSC-KR 8 131211720 131211720 single base substitution G C intron_variant LUSC-KR 8 131211776 131211776 single base substitution T A intron_variant LUSC-KR 8 131213178 131213178 single base substitution G T intron_variant LUSC-KR 8 131214232 131214232 single base substitution C A intron_variant LUSC-KR 8 131226652 131226652 single base substitution G A downstream_gene_variant LUSC-KR 8 131226652 131226652 single base substitution G A intron_variant LUSC-KR 8 131226752 131226752 single base substitution A G downstream_gene_variant LUSC-KR 8 131226752 131226752 single base substitution A G intron_variant LUSC-KR 8 131229447 131229447 single base substitution T C intron_variant LUSC-KR 8 131229447 131229447 single base substitution T C upstream_gene_variant LUSC-KR 8 131232560 131232560 single base substitution T C intron_variant LUSC-KR 8 131238003 131238003 single base substitution C T intron_variant LUSC-KR 8 131238600 131238600 single base substitution T C intron_variant LUSC-KR 8 131238773 131238773 single base substitution G C intron_variant LUSC-KR 8 131246234 131246234 single base substitution T A intron_variant LUSC-KR 8 131256933 131256933 single base substitution A G intron_variant LUSC-KR 8 131258375 131258375 single base substitution G A intron_variant LUSC-KR 8 131260909 131260909 single base substitution T A intron_variant LUSC-KR 8 131260909 131260909 single base substitution T A upstream_gene_variant LUSC-KR 8 131261970 131261970 single base substitution G T intron_variant LUSC-KR 8 131261970 131261970 single base substitution G T upstream_gene_variant LUSC-KR 8 131264214 131264214 single base substitution T G intron_variant LUSC-KR 8 131264214 131264214 single base substitution T G upstream_gene_variant LUSC-KR 8 131273490 131273490 single base substitution T C intron_variant LUSC-KR 8 131279775 131279775 single base substitution C A intron_variant LUSC-KR 8 131281726 131281726 single base substitution G C intron_variant LUSC-KR 8 131294968 131294968 single base substitution C G intron_variant LUSC-KR 8 131295348 131295348 single base substitution C T intron_variant LUSC-KR 8 131295698 131295698 single base substitution C A intron_variant LUSC-KR 8 131296329 131296329 single base substitution C A intron_variant LUSC-KR 8 131296465 131296465 single base substitution C T intron_variant LUSC-KR 8 131297735 131297735 single base substitution G A intron_variant LUSC-KR 8 131298048 131298048 single base substitution C T intron_variant LUSC-KR 8 131298054 131298054 single base substitution C T intron_variant LUSC-KR 8 131298096 131298096 single base substitution C T intron_variant LUSC-KR 8 131299905 131299905 single base substitution C T intron_variant LUSC-KR 8 131301526 131301526 single base substitution G A intron_variant LUSC-KR 8 131313233 131313233 single base substitution C A intron_variant LUSC-KR 8 131314277 131314277 single base substitution C G intron_variant LUSC-KR 8 131314762 131314762 single base substitution A G intron_variant LUSC-KR 8 131320779 131320779 single base substitution C G intron_variant LUSC-KR 8 131322060 131322060 single base substitution C A intron_variant LUSC-KR 8 131324021 131324021 single base substitution A C intron_variant LUSC-KR 8 131324708 131324708 single base substitution C T intron_variant LUSC-KR 8 131324997 131324997 single base substitution A C intron_variant LUSC-KR 8 131334625 131334625 single base substitution T C intron_variant LUSC-KR 8 131342440 131342440 single base substitution C T intron_variant LUSC-KR 8 131343459 131343459 single base substitution G A intron_variant LUSC-KR 8 131354988 131354988 single base substitution C G intron_variant LUSC-KR 8 131354988 131354988 single base substitution C G upstream_gene_variant LUSC-KR 8 131357181 131357181 single base substitution T C intron_variant LUSC-KR 8 131357181 131357181 single base substitution T C upstream_gene_variant LUSC-KR 8 131357537 131357537 single base substitution C A intron_variant LUSC-KR 8 131357537 131357537 single base substitution C A upstream_gene_variant LUSC-KR 8 131357538 131357538 single base substitution C A intron_variant LUSC-KR 8 131357538 131357538 single base substitution C A upstream_gene_variant LUSC-KR 8 131359972 131359972 single base substitution C A intron_variant LUSC-KR 8 131370797 131370797 single base substitution C A downstream_gene_variant LUSC-KR 8 131370797 131370797 single base substitution C A intron_variant LUSC-KR 8 131375253 131375253 single base substitution G A intron_variant LUSC-KR 8 131375399 131375399 single base substitution C T intron_variant LUSC-KR 8 131379276 131379276 single base substitution C A intron_variant LUSC-KR 8 131381164 131381164 single base substitution T C intron_variant LUSC-KR 8 131383506 131383506 single base substitution C T intron_variant LUSC-KR 8 131387443 131387443 single base substitution T C intron_variant LUSC-KR 8 131394334 131394334 single base substitution C A intron_variant LUSC-KR 8 131397339 131397339 single base substitution A G intron_variant LUSC-KR 8 131405910 131405910 single base substitution G C intron_variant LUSC-KR 8 131406066 131406066 single base substitution G A intron_variant LUSC-KR 8 131406160 131406160 single base substitution G C intron_variant LUSC-KR 8 131406538 131406538 single base substitution G A intron_variant LUSC-KR 8 131406767 131406767 single base substitution G A intron_variant LUSC-KR 8 131407508 131407508 single base substitution G C intron_variant LUSC-KR 8 131407825 131407825 single base substitution G A intron_variant LUSC-KR 8 131408997 131408997 single base substitution C T intron_variant LUSC-KR 8 131410732 131410732 single base substitution T C intron_variant LUSC-KR 8 131413510 131413510 single base substitution G A intron_variant LUSC-KR 8 131413511 131413511 single base substitution A G intron_variant LUSC-KR 8 131413806 131413806 single base substitution G T intron_variant LUSC-KR 8 131415818 131415818 single base substitution G T intron_variant LUSC-KR 8 131415818 131415818 single base substitution G T upstream_gene_variant LUSC-KR 8 131420256 131420256 single base substitution G T intron_variant LUSC-KR 8 131423217 131423217 single base substitution C A intron_variant LUSC-KR 8 131426163 131426163 single base substitution C G intron_variant LUSC-KR 8 131427237 131427237 single base substitution C T intron_variant LUSC-KR 8 131430533 131430533 single base substitution C A intron_variant LUSC-KR 8 131431132 131431132 single base substitution C G intron_variant LUSC-KR 8 131432334 131432334 single base substitution G A intron_variant LUSC-KR 8 131436643 131436643 single base substitution C A intron_variant LUSC-KR 8 131440305 131440305 single base substitution C A intron_variant LUSC-KR 8 131440305 131440305 single base substitution C A upstream_gene_variant LUSC-KR 8 131443327 131443327 single base substitution C G intron_variant LUSC-KR 8 131443327 131443327 single base substitution C G upstream_gene_variant LUSC-KR 8 131448101 131448101 single base substitution C A intron_variant LUSC-KR 8 131450550 131450550 single base substitution G C intron_variant LUSC-KR 8 131455549 131455549 single base substitution C A intron_variant LUSC-KR 8 131455613 131455613 single base substitution C T intron_variant LUSC-KR 8 131455686 131455686 single base substitution C A intron_variant LUSC-KR 8 131456203 131456203 single base substitution G C upstream_gene_variant LUSC-KR 8 131458953 131458953 single base substitution G A upstream_gene_variant LUSC-KR 8 131459473 131459473 single base substitution G A upstream_gene_variant LUSC-US 8 131130450 131130450 single base substitution C A 3_prime_UTR_variant LUSC-US 8 131130450 131130450 single base substitution C A exon_variant LUSC-US 8 131130450 131130450 single base substitution C A missense_variant D26Y 76G>T LUSC-US 8 131130450 131130450 single base substitution C A missense_variant D433Y 1297G>T LUSC-US 8 131130450 131130450 single base substitution C A missense_variant D613Y 1837G>T LUSC-US 8 131130758 131130758 single base substitution C A 3_prime_UTR_variant LUSC-US 8 131130758 131130758 single base substitution C A exon_variant LUSC-US 8 131130758 131130758 single base substitution C A stop_gained E4* 10G>T LUSC-US 8 131130758 131130758 single base substitution C A stop_gained E411* 1231G>T LUSC-US 8 131130758 131130758 single base substitution C A stop_gained E591* 1771G>T LUSC-US 8 131136311 131136311 single base substitution T C 3_prime_UTR_variant LUSC-US 8 131136311 131136311 single base substitution T C missense_variant M339V 1015A>G LUSC-US 8 131136311 131136311 single base substitution T C missense_variant M519V 1555A>G LUSC-US 8 131136348 131136348 single base substitution C A splice_region_variant LUSC-US 8 131146584 131146584 single base substitution C G 3_prime_UTR_variant LUSC-US 8 131146584 131146584 single base substitution C G missense_variant R212T 635G>C LUSC-US 8 131146584 131146584 single base substitution C G missense_variant R392T 1175G>C LUSC-US 8 131226848 131226848 single base substitution T G 3_prime_UTR_variant LUSC-US 8 131226848 131226848 single base substitution T G 5_prime_UTR_variant LUSC-US 8 131226848 131226848 single base substitution T G downstream_gene_variant LUSC-US 8 131226848 131226848 single base substitution T G exon_variant LUSC-US 8 131226848 131226848 single base substitution T G missense_variant K120T 359A>C LUSC-US 8 131226848 131226848 single base substitution T G missense_variant K90T 269A>C MALY-DE 8 131062466 131062466 deletion of <=200bp G - downstream_gene_variant MALY-DE 8 131062476 131062476 insertion of <=200bp - G downstream_gene_variant MALY-DE 8 131063165 131063165 single base substitution T C downstream_gene_variant MALY-DE 8 131064111 131064111 single base substitution G A downstream_gene_variant MALY-DE 8 131073537 131073537 single base substitution A G intron_variant MALY-DE 8 131082277 131082277 single base substitution C A intron_variant MALY-DE 8 131101798 131101798 deletion of <=200bp A - intron_variant MALY-DE 8 131104174 131104174 single base substitution C T intron_variant MALY-DE 8 131106030 131106030 single base substitution A G intron_variant MALY-DE 8 131115459 131115460 deletion of <=200bp AT - intron_variant MALY-DE 8 131117883 131117883 single base substitution A T intron_variant MALY-DE 8 131124817 131124817 single base substitution T A downstream_gene_variant MALY-DE 8 131124817 131124817 single base substitution T A intron_variant MALY-DE 8 131124817 131124817 single base substitution T A upstream_gene_variant MALY-DE 8 131125691 131125691 single base substitution G A downstream_gene_variant MALY-DE 8 131125691 131125691 single base substitution G A intron_variant MALY-DE 8 131125691 131125691 single base substitution G A upstream_gene_variant MALY-DE 8 131143119 131143119 single base substitution T A intron_variant MALY-DE 8 131145878 131145878 single base substitution C T intron_variant MALY-DE 8 131148195 131148195 single base substitution C T intron_variant MALY-DE 8 131149057 131149057 single base substitution C T intron_variant MALY-DE 8 131154525 131154531 deletion of <=200bp GCTGGAT - intron_variant MALY-DE 8 131159473 131159474 deletion of <=200bp AG - intron_variant MALY-DE 8 131163530 131163530 single base substitution T C downstream_gene_variant MALY-DE 8 131163530 131163530 single base substitution T C intron_variant MALY-DE 8 131165514 131165514 single base substitution T G intron_variant MALY-DE 8 131167368 131167368 single base substitution G C intron_variant MALY-DE 8 131171357 131171357 single base substitution A T intron_variant MALY-DE 8 131172534 131172534 single base substitution G A intron_variant MALY-DE 8 131172534 131172534 single base substitution G A upstream_gene_variant MALY-DE 8 131182270 131182270 single base substitution C T intron_variant MALY-DE 8 131183537 131183537 single base substitution T G intron_variant MALY-DE 8 131190493 131190493 single base substitution T A downstream_gene_variant MALY-DE 8 131190493 131190493 single base substitution T A intron_variant MALY-DE 8 131196509 131196509 single base substitution G A intron_variant MALY-DE 8 131196509 131196509 single base substitution G A upstream_gene_variant MALY-DE 8 131197353 131197353 single base substitution A C intron_variant MALY-DE 8 131197353 131197353 single base substitution A C upstream_gene_variant MALY-DE 8 131198233 131198233 single base substitution T C intron_variant MALY-DE 8 131198586 131198586 single base substitution T A intron_variant MALY-DE 8 131201416 131201416 single base substitution A T intron_variant MALY-DE 8 131212328 131212328 insertion of <=200bp - C intron_variant MALY-DE 8 131219654 131219654 single base substitution A T intron_variant MALY-DE 8 131223302 131223302 single base substitution G T downstream_gene_variant MALY-DE 8 131223302 131223302 single base substitution G T intron_variant MALY-DE 8 131223303 131223303 single base substitution A T downstream_gene_variant MALY-DE 8 131223303 131223303 single base substitution A T intron_variant MALY-DE 8 131227972 131227977 deletion of <=200bp AGAGTG - intron_variant MALY-DE 8 131227972 131227977 deletion of <=200bp AGAGTG - upstream_gene_variant MALY-DE 8 131230000 131230000 single base substitution G A intron_variant MALY-DE 8 131230000 131230000 single base substitution G A upstream_gene_variant MALY-DE 8 131235012 131235012 single base substitution C A intron_variant MALY-DE 8 131236699 131236699 single base substitution C T intron_variant MALY-DE 8 131239278 131239279 deletion of <=200bp CA - intron_variant MALY-DE 8 131245388 131245388 single base substitution C T intron_variant MALY-DE 8 131256416 131256416 single base substitution A C intron_variant MALY-DE 8 131264747 131264762 deletion of <=200bp TTAACTTTCATAGAAA - intron_variant MALY-DE 8 131269028 131269031 deletion of <=200bp TCCT - intron_variant MALY-DE 8 131290488 131290488 single base substitution T C intron_variant MALY-DE 8 131298989 131298989 single base substitution A T intron_variant MALY-DE 8 131310942 131310942 single base substitution T A intron_variant MALY-DE 8 131311185 131311185 single base substitution T C intron_variant MALY-DE 8 131316658 131316658 single base substitution A C intron_variant MALY-DE 8 131316659 131316659 single base substitution A T intron_variant MALY-DE 8 131318245 131318245 single base substitution A C intron_variant MALY-DE 8 131321277 131321277 single base substitution G A intron_variant MALY-DE 8 131330470 131330470 single base substitution G C intron_variant MALY-DE 8 131344365 131344365 single base substitution A G intron_variant MALY-DE 8 131348429 131348429 deletion of <=200bp T - intron_variant MALY-DE 8 131348946 131348946 single base substitution A G intron_variant MALY-DE 8 131352151 131352151 single base substitution T C intron_variant MALY-DE 8 131365981 131365981 single base substitution C T intron_variant MALY-DE 8 131379570 131379570 single base substitution T C intron_variant MALY-DE 8 131389786 131389786 single base substitution A C intron_variant MALY-DE 8 131392603 131392603 single base substitution G A intron_variant MALY-DE 8 131412003 131412003 single base substitution T A intron_variant MALY-DE 8 131413989 131413989 single base substitution C T intron_variant MALY-DE 8 131416766 131416766 single base substitution C T intron_variant MALY-DE 8 131416766 131416766 single base substitution C T upstream_gene_variant MALY-DE 8 131417101 131417101 single base substitution C T intron_variant MALY-DE 8 131417101 131417101 single base substitution C T upstream_gene_variant MALY-DE 8 131424703 131424703 single base substitution A C intron_variant MALY-DE 8 131426506 131426506 single base substitution G A intron_variant MALY-DE 8 131426924 131426924 single base substitution A T intron_variant MALY-DE 8 131429423 131429423 insertion of <=200bp - T intron_variant MALY-DE 8 131440743 131440745 deletion of <=200bp CAC - intron_variant MALY-DE 8 131440743 131440745 deletion of <=200bp CAC - upstream_gene_variant MALY-DE 8 131448232 131448232 single base substitution A T intron_variant MALY-DE 8 131451312 131451312 single base substitution G C intron_variant MALY-DE 8 131451851 131451851 single base substitution A T intron_variant MALY-DE 8 131451997 131451997 single base substitution C G intron_variant MALY-DE 8 131454103 131454103 single base substitution G A intron_variant MELA-AU 8 131059680 131059680 single base substitution G A downstream_gene_variant MELA-AU 8 131059687 131059687 single base substitution G A downstream_gene_variant MELA-AU 8 131059719 131059719 single base substitution G A downstream_gene_variant MELA-AU 8 131059798 131059798 single base substitution C T downstream_gene_variant MELA-AU 8 131060318 131060319 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 131060726 131060726 single base substitution G A downstream_gene_variant MELA-AU 8 131061205 131061205 single base substitution G A downstream_gene_variant MELA-AU 8 131062574 131062574 single base substitution C A downstream_gene_variant MELA-AU 8 131062873 131062873 single base substitution G A downstream_gene_variant MELA-AU 8 131063100 131063100 single base substitution G A downstream_gene_variant MELA-AU 8 131063181 131063181 single base substitution G T downstream_gene_variant MELA-AU 8 131063732 131063732 single base substitution C T downstream_gene_variant MELA-AU 8 131063740 131063740 single base substitution C T downstream_gene_variant MELA-AU 8 131063810 131063810 single base substitution G A downstream_gene_variant MELA-AU 8 131064935 131064935 single base substitution C T 3_prime_UTR_variant MELA-AU 8 131064935 131064935 single base substitution C T downstream_gene_variant MELA-AU 8 131065769 131065769 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131065769 131065769 single base substitution G A downstream_gene_variant MELA-AU 8 131065871 131065871 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131065871 131065871 single base substitution G A downstream_gene_variant MELA-AU 8 131066963 131066963 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131066963 131066963 single base substitution G A downstream_gene_variant MELA-AU 8 131067009 131067009 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131067009 131067009 single base substitution G A missense_variant P1120S 3358C>T MELA-AU 8 131067009 131067009 single base substitution G A missense_variant P476S 1426C>T MELA-AU 8 131067009 131067009 single base substitution G A missense_variant P940S 2818C>T MELA-AU 8 131067059 131067059 single base substitution G A intron_variant MELA-AU 8 131067473 131067473 single base substitution A C intron_variant MELA-AU 8 131067605 131067605 single base substitution T C intron_variant MELA-AU 8 131068401 131068401 single base substitution G A intron_variant MELA-AU 8 131068424 131068424 single base substitution G A intron_variant MELA-AU 8 131068753 131068753 single base substitution C T intron_variant MELA-AU 8 131068897 131068897 single base substitution G A intron_variant MELA-AU 8 131070185 131070185 single base substitution G A intron_variant MELA-AU 8 131070320 131070320 single base substitution C T splice_region_variant MELA-AU 8 131072388 131072388 single base substitution G A intron_variant MELA-AU 8 131072951 131072951 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131072951 131072951 single base substitution G A synonymous_variant H1022H 3066C>T MELA-AU 8 131072951 131072951 single base substitution G A synonymous_variant H378H 1134C>T MELA-AU 8 131072951 131072951 single base substitution G A synonymous_variant H842H 2526C>T MELA-AU 8 131073010 131073010 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131073010 131073010 single base substitution G A stop_gained Q1003* 3007C>T MELA-AU 8 131073010 131073010 single base substitution G A stop_gained Q359* 1075C>T MELA-AU 8 131073010 131073010 single base substitution G A stop_gained Q823* 2467C>T MELA-AU 8 131073339 131073339 single base substitution G A intron_variant MELA-AU 8 131074806 131074806 single base substitution G A intron_variant MELA-AU 8 131076684 131076685 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131079857 131079857 single base substitution G A intron_variant MELA-AU 8 131080575 131080575 single base substitution G A intron_variant MELA-AU 8 131080658 131080658 single base substitution A T intron_variant MELA-AU 8 131081390 131081390 single base substitution G A intron_variant MELA-AU 8 131082306 131082306 single base substitution G A intron_variant MELA-AU 8 131083392 131083392 single base substitution G A intron_variant MELA-AU 8 131083795 131083796 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 131083795 131083796 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 131083814 131083814 single base substitution G A downstream_gene_variant MELA-AU 8 131083814 131083814 single base substitution G A intron_variant MELA-AU 8 131084171 131084171 single base substitution A T downstream_gene_variant MELA-AU 8 131084171 131084171 single base substitution A T intron_variant MELA-AU 8 131084347 131084347 single base substitution G A downstream_gene_variant MELA-AU 8 131084347 131084347 single base substitution G A intron_variant MELA-AU 8 131084399 131084399 single base substitution G A downstream_gene_variant MELA-AU 8 131084399 131084399 single base substitution G A intron_variant MELA-AU 8 131085348 131085348 single base substitution G A downstream_gene_variant MELA-AU 8 131085348 131085348 single base substitution G A intron_variant MELA-AU 8 131085411 131085411 single base substitution G A downstream_gene_variant MELA-AU 8 131085411 131085411 single base substitution G A intron_variant MELA-AU 8 131085499 131085499 single base substitution G A downstream_gene_variant MELA-AU 8 131085499 131085499 single base substitution G A intron_variant MELA-AU 8 131085818 131085818 single base substitution G A downstream_gene_variant MELA-AU 8 131085818 131085818 single base substitution G A intron_variant MELA-AU 8 131086170 131086170 single base substitution G A downstream_gene_variant MELA-AU 8 131086170 131086170 single base substitution G A intron_variant MELA-AU 8 131086773 131086773 single base substitution G A downstream_gene_variant MELA-AU 8 131086773 131086773 single base substitution G A intron_variant MELA-AU 8 131087001 131087001 single base substitution A C downstream_gene_variant MELA-AU 8 131087001 131087001 single base substitution A C intron_variant MELA-AU 8 131087371 131087371 single base substitution G A downstream_gene_variant MELA-AU 8 131087371 131087371 single base substitution G A intron_variant MELA-AU 8 131087445 131087445 single base substitution C T downstream_gene_variant MELA-AU 8 131087445 131087445 single base substitution C T intron_variant MELA-AU 8 131087841 131087841 single base substitution G A downstream_gene_variant MELA-AU 8 131087841 131087841 single base substitution G A intron_variant MELA-AU 8 131087851 131087851 single base substitution C T downstream_gene_variant MELA-AU 8 131087851 131087851 single base substitution C T intron_variant MELA-AU 8 131087912 131087912 single base substitution G A downstream_gene_variant MELA-AU 8 131087912 131087912 single base substitution G A intron_variant MELA-AU 8 131087940 131087940 single base substitution G A downstream_gene_variant MELA-AU 8 131087940 131087940 single base substitution G A intron_variant MELA-AU 8 131088054 131088054 single base substitution C T downstream_gene_variant MELA-AU 8 131088054 131088054 single base substitution C T intron_variant MELA-AU 8 131088600 131088600 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131088600 131088600 single base substitution G A downstream_gene_variant MELA-AU 8 131088600 131088600 single base substitution G A stop_gained Q255* 763C>T MELA-AU 8 131088600 131088600 single base substitution G A stop_gained Q719* 2155C>T MELA-AU 8 131088600 131088600 single base substitution G A stop_gained Q899* 2695C>T MELA-AU 8 131088737 131088737 single base substitution G A intron_variant MELA-AU 8 131088885 131088885 single base substitution G A intron_variant MELA-AU 8 131089598 131089598 single base substitution G A intron_variant MELA-AU 8 131090339 131090339 single base substitution G A intron_variant MELA-AU 8 131090882 131090883 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131092395 131092395 single base substitution G A intron_variant MELA-AU 8 131093999 131093999 single base substitution G A intron_variant MELA-AU 8 131094459 131094459 single base substitution G A intron_variant MELA-AU 8 131096004 131096004 single base substitution G A intron_variant MELA-AU 8 131096348 131096348 single base substitution A C intron_variant MELA-AU 8 131096819 131096819 single base substitution G A intron_variant MELA-AU 8 131097049 131097049 single base substitution A T intron_variant MELA-AU 8 131097779 131097779 single base substitution G C intron_variant MELA-AU 8 131098697 131098697 single base substitution G A intron_variant MELA-AU 8 131098714 131098714 single base substitution G A intron_variant MELA-AU 8 131099454 131099454 single base substitution G A intron_variant MELA-AU 8 131100428 131100428 single base substitution G A intron_variant MELA-AU 8 131100955 131100955 single base substitution G A intron_variant MELA-AU 8 131101296 131101296 single base substitution G A intron_variant MELA-AU 8 131101748 131101748 single base substitution A C intron_variant MELA-AU 8 131101952 131101952 single base substitution C T intron_variant MELA-AU 8 131103652 131103652 single base substitution G A intron_variant MELA-AU 8 131104209 131104209 single base substitution G A intron_variant MELA-AU 8 131104224 131104224 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131104224 131104224 single base substitution G A exon_variant MELA-AU 8 131104224 131104224 single base substitution G A intron_variant MELA-AU 8 131104224 131104224 single base substitution G A missense_variant P676L 2027C>T MELA-AU 8 131104224 131104224 single base substitution G A missense_variant P856L 2567C>T MELA-AU 8 131104260 131104260 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131104260 131104260 single base substitution G A exon_variant MELA-AU 8 131104260 131104260 single base substitution G A intron_variant MELA-AU 8 131104260 131104260 single base substitution G A missense_variant P664L 1991C>T MELA-AU 8 131104260 131104260 single base substitution G A missense_variant P844L 2531C>T MELA-AU 8 131104590 131104590 single base substitution G C intron_variant MELA-AU 8 131104645 131104645 single base substitution G A intron_variant MELA-AU 8 131104805 131104805 single base substitution C T intron_variant MELA-AU 8 131105652 131105652 single base substitution C T intron_variant MELA-AU 8 131106466 131106466 single base substitution A T intron_variant MELA-AU 8 131106551 131106551 single base substitution G A intron_variant MELA-AU 8 131106600 131106600 single base substitution G A intron_variant MELA-AU 8 131107017 131107019 deletion of <=200bp AAC - intron_variant MELA-AU 8 131107681 131107681 single base substitution G A intron_variant MELA-AU 8 131107967 131107967 single base substitution G A intron_variant MELA-AU 8 131108245 131108245 single base substitution G A intron_variant MELA-AU 8 131108396 131108396 single base substitution A G intron_variant MELA-AU 8 131109631 131109631 single base substitution C T intron_variant MELA-AU 8 131111473 131111473 single base substitution G A intron_variant MELA-AU 8 131111647 131111647 single base substitution C T intron_variant MELA-AU 8 131111661 131111661 single base substitution C T intron_variant MELA-AU 8 131111667 131111667 single base substitution C A intron_variant MELA-AU 8 131111723 131111723 single base substitution G A intron_variant MELA-AU 8 131112079 131112079 single base substitution C T intron_variant MELA-AU 8 131113111 131113111 single base substitution T C intron_variant MELA-AU 8 131114388 131114388 single base substitution G A intron_variant MELA-AU 8 131115292 131115292 single base substitution C T intron_variant MELA-AU 8 131115310 131115310 single base substitution G A intron_variant MELA-AU 8 131115331 131115331 single base substitution C T intron_variant MELA-AU 8 131115935 131115935 single base substitution G A intron_variant MELA-AU 8 131116030 131116030 single base substitution G A intron_variant MELA-AU 8 131117076 131117076 single base substitution G A intron_variant MELA-AU 8 131118190 131118190 single base substitution G A intron_variant MELA-AU 8 131119074 131119074 single base substitution C T intron_variant MELA-AU 8 131120065 131120065 single base substitution G A intron_variant MELA-AU 8 131120450 131120450 single base substitution G A intron_variant MELA-AU 8 131120908 131120908 single base substitution G A intron_variant MELA-AU 8 131120916 131120916 single base substitution T C intron_variant MELA-AU 8 131123568 131123568 single base substitution G A downstream_gene_variant MELA-AU 8 131123568 131123568 single base substitution G A intron_variant MELA-AU 8 131123745 131123745 single base substitution C T downstream_gene_variant MELA-AU 8 131123745 131123745 single base substitution C T intron_variant MELA-AU 8 131123934 131123934 single base substitution G A downstream_gene_variant MELA-AU 8 131123934 131123934 single base substitution G A intron_variant MELA-AU 8 131124018 131124018 single base substitution G A downstream_gene_variant MELA-AU 8 131124018 131124018 single base substitution G A intron_variant MELA-AU 8 131124539 131124539 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131124539 131124539 single base substitution G A downstream_gene_variant MELA-AU 8 131124539 131124539 single base substitution G A exon_variant MELA-AU 8 131124539 131124539 single base substitution G A synonymous_variant P147P 441C>T MELA-AU 8 131124539 131124539 single base substitution G A synonymous_variant P554P 1662C>T MELA-AU 8 131124539 131124539 single base substitution G A synonymous_variant P734P 2202C>T MELA-AU 8 131125529 131125529 single base substitution C A downstream_gene_variant MELA-AU 8 131125529 131125529 single base substitution C A intron_variant MELA-AU 8 131125529 131125529 single base substitution C A upstream_gene_variant MELA-AU 8 131127384 131127384 single base substitution G A downstream_gene_variant MELA-AU 8 131127384 131127384 single base substitution G A intron_variant MELA-AU 8 131127384 131127384 single base substitution G A upstream_gene_variant MELA-AU 8 131127783 131127783 single base substitution T C downstream_gene_variant MELA-AU 8 131127783 131127783 single base substitution T C intron_variant MELA-AU 8 131127783 131127783 single base substitution T C upstream_gene_variant MELA-AU 8 131127897 131127897 single base substitution T C 3_prime_UTR_variant MELA-AU 8 131127897 131127897 single base substitution T C exon_variant MELA-AU 8 131127897 131127897 single base substitution T C missense_variant S130G 388A>G MELA-AU 8 131127897 131127897 single base substitution T C missense_variant S537G 1609A>G MELA-AU 8 131127897 131127897 single base substitution T C missense_variant S717G 2149A>G MELA-AU 8 131127897 131127897 single base substitution T C upstream_gene_variant MELA-AU 8 131128440 131128440 single base substitution G A intron_variant MELA-AU 8 131128440 131128440 single base substitution G A upstream_gene_variant MELA-AU 8 131129498 131129498 single base substitution C G intron_variant MELA-AU 8 131129498 131129498 single base substitution C G upstream_gene_variant MELA-AU 8 131130168 131130168 single base substitution T C intron_variant MELA-AU 8 131130501 131130501 single base substitution G A intron_variant MELA-AU 8 131130657 131130657 single base substitution G A intron_variant MELA-AU 8 131131878 131131878 single base substitution G A intron_variant MELA-AU 8 131131878 131131878 single base substitution G A upstream_gene_variant MELA-AU 8 131132039 131132039 single base substitution G A intron_variant MELA-AU 8 131132039 131132039 single base substitution G A upstream_gene_variant MELA-AU 8 131132485 131132485 single base substitution G A intron_variant MELA-AU 8 131132485 131132485 single base substitution G A upstream_gene_variant MELA-AU 8 131132704 131132704 single base substitution G A intron_variant MELA-AU 8 131132704 131132704 single base substitution G A upstream_gene_variant MELA-AU 8 131136272 131136272 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131136272 131136272 single base substitution G A missense_variant P352S 1054C>T MELA-AU 8 131136272 131136272 single base substitution G A missense_variant P532S 1594C>T MELA-AU 8 131136313 131136313 single base substitution A T 3_prime_UTR_variant MELA-AU 8 131136313 131136313 single base substitution A T missense_variant I338N 1013T>A MELA-AU 8 131136313 131136313 single base substitution A T missense_variant I518N 1553T>A MELA-AU 8 131137166 131137166 single base substitution G A intron_variant MELA-AU 8 131137537 131137537 single base substitution C T intron_variant MELA-AU 8 131137696 131137696 single base substitution A G intron_variant MELA-AU 8 131137721 131137721 single base substitution G A intron_variant MELA-AU 8 131139423 131139423 single base substitution G A intron_variant MELA-AU 8 131139597 131139597 single base substitution G A intron_variant MELA-AU 8 131139767 131139767 single base substitution G A intron_variant MELA-AU 8 131140100 131140100 single base substitution A C intron_variant MELA-AU 8 131140572 131140572 single base substitution G A intron_variant MELA-AU 8 131140739 131140739 single base substitution G A intron_variant MELA-AU 8 131141815 131141815 single base substitution C G intron_variant MELA-AU 8 131143439 131143439 single base substitution A C intron_variant MELA-AU 8 131143523 131143523 single base substitution G A intron_variant MELA-AU 8 131143545 131143545 single base substitution T C intron_variant MELA-AU 8 131143553 131143553 single base substitution T C intron_variant MELA-AU 8 131143841 131143841 single base substitution T A intron_variant MELA-AU 8 131144308 131144308 single base substitution G A intron_variant MELA-AU 8 131144711 131144711 single base substitution G A intron_variant MELA-AU 8 131144857 131144857 single base substitution G A intron_variant MELA-AU 8 131145195 131145195 single base substitution T C intron_variant MELA-AU 8 131145254 131145254 single base substitution G A intron_variant MELA-AU 8 131146988 131146988 single base substitution G A intron_variant MELA-AU 8 131148379 131148379 single base substitution C T intron_variant MELA-AU 8 131149819 131149819 single base substitution A G intron_variant MELA-AU 8 131149990 131149990 single base substitution C T intron_variant MELA-AU 8 131150084 131150085 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 131150125 131150125 single base substitution G A intron_variant MELA-AU 8 131150309 131150309 single base substitution A C intron_variant MELA-AU 8 131150338 131150338 single base substitution G A intron_variant MELA-AU 8 131150505 131150505 single base substitution C T intron_variant MELA-AU 8 131150651 131150651 single base substitution G A intron_variant MELA-AU 8 131152303 131152303 single base substitution G A intron_variant MELA-AU 8 131153421 131153421 single base substitution A C intron_variant MELA-AU 8 131153471 131153471 single base substitution G A intron_variant MELA-AU 8 131153536 131153537 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 131153884 131153884 single base substitution C T intron_variant MELA-AU 8 131154828 131154828 single base substitution G A intron_variant MELA-AU 8 131155182 131155182 single base substitution G A intron_variant MELA-AU 8 131155305 131155305 single base substitution T A intron_variant MELA-AU 8 131155838 131155838 single base substitution C T intron_variant MELA-AU 8 131156206 131156206 single base substitution G A intron_variant MELA-AU 8 131156327 131156327 single base substitution G A intron_variant MELA-AU 8 131156535 131156535 single base substitution A T intron_variant MELA-AU 8 131156956 131156956 single base substitution G A intron_variant MELA-AU 8 131158529 131158529 single base substitution C T intron_variant MELA-AU 8 131158741 131158742 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 8 131159296 131159296 single base substitution A G intron_variant MELA-AU 8 131159430 131159430 single base substitution G A intron_variant MELA-AU 8 131159431 131159431 single base substitution G A intron_variant MELA-AU 8 131159432 131159432 single base substitution G A intron_variant MELA-AU 8 131160326 131160326 single base substitution G A downstream_gene_variant MELA-AU 8 131160326 131160326 single base substitution G A intron_variant MELA-AU 8 131160560 131160560 single base substitution G A downstream_gene_variant MELA-AU 8 131160560 131160560 single base substitution G A intron_variant MELA-AU 8 131160605 131160605 single base substitution G A downstream_gene_variant MELA-AU 8 131160605 131160605 single base substitution G A intron_variant MELA-AU 8 131161438 131161438 single base substitution A G downstream_gene_variant MELA-AU 8 131161438 131161438 single base substitution A G intron_variant MELA-AU 8 131163054 131163054 single base substitution A C downstream_gene_variant MELA-AU 8 131163054 131163054 single base substitution A C intron_variant MELA-AU 8 131163104 131163104 single base substitution C T downstream_gene_variant MELA-AU 8 131163104 131163104 single base substitution C T intron_variant MELA-AU 8 131163186 131163186 single base substitution G A downstream_gene_variant MELA-AU 8 131163186 131163186 single base substitution G A intron_variant MELA-AU 8 131163438 131163438 single base substitution G A downstream_gene_variant MELA-AU 8 131163438 131163438 single base substitution G A intron_variant MELA-AU 8 131163442 131163442 single base substitution C T downstream_gene_variant MELA-AU 8 131163442 131163442 single base substitution C T intron_variant MELA-AU 8 131163803 131163803 single base substitution G T downstream_gene_variant MELA-AU 8 131163803 131163803 single base substitution G T intron_variant MELA-AU 8 131165190 131165190 insertion of <=200bp - C intron_variant MELA-AU 8 131165839 131165839 single base substitution C T intron_variant MELA-AU 8 131166261 131166261 single base substitution G A intron_variant MELA-AU 8 131166383 131166383 single base substitution G A intron_variant MELA-AU 8 131166597 131166597 single base substitution G A intron_variant MELA-AU 8 131167066 131167066 single base substitution G A intron_variant MELA-AU 8 131167368 131167368 single base substitution G C intron_variant MELA-AU 8 131167657 131167657 single base substitution G A intron_variant MELA-AU 8 131167682 131167682 single base substitution G A intron_variant MELA-AU 8 131167716 131167716 single base substitution G A intron_variant MELA-AU 8 131168245 131168245 single base substitution G A intron_variant MELA-AU 8 131168555 131168555 single base substitution A G intron_variant MELA-AU 8 131168795 131168795 single base substitution G A intron_variant MELA-AU 8 131168971 131168971 single base substitution G A intron_variant MELA-AU 8 131169066 131169066 single base substitution C G intron_variant MELA-AU 8 131169138 131169138 single base substitution G A intron_variant MELA-AU 8 131169160 131169160 single base substitution C A intron_variant MELA-AU 8 131169501 131169501 single base substitution G A intron_variant MELA-AU 8 131169516 131169516 single base substitution C T intron_variant MELA-AU 8 131169576 131169577 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131170790 131170790 single base substitution G A intron_variant MELA-AU 8 131171388 131171388 single base substitution G A intron_variant MELA-AU 8 131171417 131171418 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131171463 131171463 single base substitution G A intron_variant MELA-AU 8 131171549 131171549 single base substitution A G intron_variant MELA-AU 8 131172535 131172535 single base substitution G A intron_variant MELA-AU 8 131172535 131172535 single base substitution G A upstream_gene_variant MELA-AU 8 131172819 131172819 single base substitution C T intron_variant MELA-AU 8 131172819 131172819 single base substitution C T upstream_gene_variant MELA-AU 8 131172936 131172936 single base substitution A T intron_variant MELA-AU 8 131172936 131172936 single base substitution A T upstream_gene_variant MELA-AU 8 131173177 131173177 single base substitution C T intron_variant MELA-AU 8 131173177 131173177 single base substitution C T upstream_gene_variant MELA-AU 8 131173198 131173198 deletion of <=200bp G - intron_variant MELA-AU 8 131173198 131173198 deletion of <=200bp G - upstream_gene_variant MELA-AU 8 131173325 131173326 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131173325 131173326 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 131173326 131173326 single base substitution G A intron_variant MELA-AU 8 131173326 131173326 single base substitution G A upstream_gene_variant MELA-AU 8 131173466 131173466 single base substitution G A intron_variant MELA-AU 8 131173466 131173466 single base substitution G A upstream_gene_variant MELA-AU 8 131175396 131175396 single base substitution C T intron_variant MELA-AU 8 131175396 131175396 single base substitution C T upstream_gene_variant MELA-AU 8 131175553 131175553 single base substitution G A intron_variant MELA-AU 8 131175553 131175553 single base substitution G A upstream_gene_variant MELA-AU 8 131175977 131175977 single base substitution G A intron_variant MELA-AU 8 131175977 131175977 single base substitution G A upstream_gene_variant MELA-AU 8 131176478 131176478 single base substitution A T intron_variant MELA-AU 8 131176478 131176478 single base substitution A T upstream_gene_variant MELA-AU 8 131176636 131176636 single base substitution G A intron_variant MELA-AU 8 131176636 131176636 single base substitution G A upstream_gene_variant MELA-AU 8 131176764 131176764 single base substitution G A intron_variant MELA-AU 8 131176764 131176764 single base substitution G A upstream_gene_variant MELA-AU 8 131176830 131176830 single base substitution C T intron_variant MELA-AU 8 131176830 131176830 single base substitution C T upstream_gene_variant MELA-AU 8 131177463 131177463 single base substitution A T intron_variant MELA-AU 8 131178008 131178008 single base substitution G A intron_variant MELA-AU 8 131179823 131179823 single base substitution G A 3_prime_UTR_variant MELA-AU 8 131179823 131179823 single base substitution G A stop_gained R107* 319C>T MELA-AU 8 131179823 131179823 single base substitution G A stop_gained R260* 778C>T MELA-AU 8 131179823 131179823 single base substitution G A stop_gained R290* 868C>T MELA-AU 8 131180590 131180590 single base substitution A C intron_variant MELA-AU 8 131180787 131180787 single base substitution G A intron_variant MELA-AU 8 131180954 131180954 single base substitution G A intron_variant MELA-AU 8 131181185 131181185 single base substitution G A intron_variant MELA-AU 8 131181457 131181457 single base substitution G A intron_variant MELA-AU 8 131182654 131182654 single base substitution G A intron_variant MELA-AU 8 131182770 131182770 single base substitution G A intron_variant MELA-AU 8 131182978 131182979 deletion of <=200bp TC - intron_variant MELA-AU 8 131183719 131183719 single base substitution A C intron_variant MELA-AU 8 131184385 131184385 single base substitution C A intron_variant MELA-AU 8 131184484 131184484 single base substitution G A intron_variant MELA-AU 8 131184734 131184734 single base substitution A T intron_variant MELA-AU 8 131188626 131188626 single base substitution G A downstream_gene_variant MELA-AU 8 131188626 131188626 single base substitution G A intron_variant MELA-AU 8 131189060 131189060 single base substitution C A downstream_gene_variant MELA-AU 8 131189060 131189060 single base substitution C A intron_variant MELA-AU 8 131189206 131189206 single base substitution G A downstream_gene_variant MELA-AU 8 131189206 131189206 single base substitution G A intron_variant MELA-AU 8 131189300 131189300 single base substitution G A downstream_gene_variant MELA-AU 8 131189300 131189300 single base substitution G A intron_variant MELA-AU 8 131189443 131189443 single base substitution G A downstream_gene_variant MELA-AU 8 131189443 131189443 single base substitution G A intron_variant MELA-AU 8 131189453 131189453 single base substitution G A downstream_gene_variant MELA-AU 8 131189453 131189453 single base substitution G A intron_variant MELA-AU 8 131189832 131189832 single base substitution G A downstream_gene_variant MELA-AU 8 131189832 131189832 single base substitution G A intron_variant MELA-AU 8 131189869 131189869 single base substitution G A downstream_gene_variant MELA-AU 8 131189869 131189869 single base substitution G A intron_variant MELA-AU 8 131190377 131190377 single base substitution G A downstream_gene_variant MELA-AU 8 131190377 131190377 single base substitution G A intron_variant MELA-AU 8 131191127 131191128 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 131191127 131191128 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 131191183 131191183 single base substitution G A downstream_gene_variant MELA-AU 8 131191183 131191183 single base substitution G A intron_variant MELA-AU 8 131191353 131191353 single base substitution G A downstream_gene_variant MELA-AU 8 131191353 131191353 single base substitution G A intron_variant MELA-AU 8 131192232 131192232 single base substitution T A downstream_gene_variant MELA-AU 8 131192232 131192232 single base substitution T A intron_variant MELA-AU 8 131192402 131192402 single base substitution G A downstream_gene_variant MELA-AU 8 131192402 131192402 single base substitution G A intron_variant MELA-AU 8 131192706 131192706 single base substitution C A downstream_gene_variant MELA-AU 8 131192706 131192706 single base substitution C A intron_variant MELA-AU 8 131193603 131193603 single base substitution T A intron_variant MELA-AU 8 131193603 131193603 single base substitution T A upstream_gene_variant MELA-AU 8 131193939 131193939 single base substitution G A intron_variant MELA-AU 8 131193939 131193939 single base substitution G A upstream_gene_variant MELA-AU 8 131194130 131194130 single base substitution C T intron_variant MELA-AU 8 131194130 131194130 single base substitution C T upstream_gene_variant MELA-AU 8 131194347 131194347 single base substitution G A intron_variant MELA-AU 8 131194347 131194347 single base substitution G A upstream_gene_variant MELA-AU 8 131194348 131194348 single base substitution G A intron_variant MELA-AU 8 131194348 131194348 single base substitution G A upstream_gene_variant MELA-AU 8 131195180 131195180 single base substitution G A intron_variant MELA-AU 8 131195180 131195180 single base substitution G A upstream_gene_variant MELA-AU 8 131196043 131196043 single base substitution G A intron_variant MELA-AU 8 131196043 131196043 single base substitution G A upstream_gene_variant MELA-AU 8 131196641 131196641 single base substitution G A intron_variant MELA-AU 8 131196641 131196641 single base substitution G A upstream_gene_variant MELA-AU 8 131196722 131196722 single base substitution C T intron_variant MELA-AU 8 131196722 131196722 single base substitution C T upstream_gene_variant MELA-AU 8 131196928 131196928 single base substitution G A intron_variant MELA-AU 8 131196928 131196928 single base substitution G A upstream_gene_variant MELA-AU 8 131197209 131197209 single base substitution C T intron_variant MELA-AU 8 131197209 131197209 single base substitution C T upstream_gene_variant MELA-AU 8 131197701 131197701 single base substitution G A intron_variant MELA-AU 8 131197701 131197701 single base substitution G A upstream_gene_variant MELA-AU 8 131198162 131198162 single base substitution A T intron_variant MELA-AU 8 131198612 131198612 single base substitution T A intron_variant MELA-AU 8 131199089 131199089 single base substitution A C intron_variant MELA-AU 8 131199642 131199642 single base substitution A G intron_variant MELA-AU 8 131200298 131200298 single base substitution G A intron_variant MELA-AU 8 131200799 131200799 single base substitution G A intron_variant MELA-AU 8 131200874 131200874 single base substitution G A intron_variant MELA-AU 8 131201730 131201730 single base substitution G A intron_variant MELA-AU 8 131202560 131202560 single base substitution G A downstream_gene_variant MELA-AU 8 131202560 131202560 single base substitution G A intron_variant MELA-AU 8 131202561 131202561 single base substitution G A downstream_gene_variant MELA-AU 8 131202561 131202561 single base substitution G A intron_variant MELA-AU 8 131202897 131202897 single base substitution G A downstream_gene_variant MELA-AU 8 131202897 131202897 single base substitution G A intron_variant MELA-AU 8 131202923 131202923 single base substitution C T downstream_gene_variant MELA-AU 8 131202923 131202923 single base substitution C T intron_variant MELA-AU 8 131202951 131202951 single base substitution A G downstream_gene_variant MELA-AU 8 131202951 131202951 single base substitution A G intron_variant MELA-AU 8 131203010 131203010 single base substitution C G downstream_gene_variant MELA-AU 8 131203010 131203010 single base substitution C G intron_variant MELA-AU 8 131203269 131203269 single base substitution G A downstream_gene_variant MELA-AU 8 131203269 131203269 single base substitution G A intron_variant MELA-AU 8 131204525 131204525 single base substitution G A downstream_gene_variant MELA-AU 8 131204525 131204525 single base substitution G A intron_variant MELA-AU 8 131204646 131204646 single base substitution G A downstream_gene_variant MELA-AU 8 131204646 131204646 single base substitution G A intron_variant MELA-AU 8 131204899 131204899 single base substitution G A downstream_gene_variant MELA-AU 8 131204899 131204899 single base substitution G A intron_variant MELA-AU 8 131205935 131205935 single base substitution A T downstream_gene_variant MELA-AU 8 131205935 131205935 single base substitution A T intron_variant MELA-AU 8 131206300 131206300 single base substitution G T downstream_gene_variant MELA-AU 8 131206300 131206300 single base substitution G T intron_variant MELA-AU 8 131207853 131207853 single base substitution C T intron_variant MELA-AU 8 131208343 131208343 single base substitution G T intron_variant MELA-AU 8 131210836 131210837 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131211228 131211228 single base substitution C G intron_variant MELA-AU 8 131212673 131212673 single base substitution G C intron_variant MELA-AU 8 131213961 131213961 single base substitution G A intron_variant MELA-AU 8 131216232 131216232 single base substitution G T intron_variant MELA-AU 8 131216503 131216504 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 8 131218308 131218308 single base substitution G A intron_variant MELA-AU 8 131218489 131218489 single base substitution G A intron_variant MELA-AU 8 131219439 131219439 single base substitution G A intron_variant MELA-AU 8 131220194 131220194 single base substitution G C intron_variant MELA-AU 8 131220789 131220789 single base substitution G A intron_variant MELA-AU 8 131220929 131220929 single base substitution G A exon_variant MELA-AU 8 131220929 131220929 single base substitution G A intron_variant MELA-AU 8 131221204 131221204 single base substitution G A intron_variant MELA-AU 8 131221931 131221931 single base substitution A C downstream_gene_variant MELA-AU 8 131221931 131221931 single base substitution A C intron_variant MELA-AU 8 131222216 131222216 single base substitution G A downstream_gene_variant MELA-AU 8 131222216 131222216 single base substitution G A intron_variant MELA-AU 8 131222344 131222344 single base substitution G A downstream_gene_variant MELA-AU 8 131222344 131222344 single base substitution G A intron_variant MELA-AU 8 131222382 131222382 single base substitution G C downstream_gene_variant MELA-AU 8 131222382 131222382 single base substitution G C intron_variant MELA-AU 8 131223220 131223220 single base substitution A C downstream_gene_variant MELA-AU 8 131223220 131223220 single base substitution A C intron_variant MELA-AU 8 131224243 131224243 single base substitution G A downstream_gene_variant MELA-AU 8 131224243 131224243 single base substitution G A intron_variant MELA-AU 8 131224311 131224311 single base substitution C G downstream_gene_variant MELA-AU 8 131224311 131224311 single base substitution C G intron_variant MELA-AU 8 131224313 131224313 single base substitution C T downstream_gene_variant MELA-AU 8 131224313 131224313 single base substitution C T intron_variant MELA-AU 8 131226053 131226054 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 131226053 131226054 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131226501 131226501 single base substitution G A downstream_gene_variant MELA-AU 8 131226501 131226501 single base substitution G A intron_variant MELA-AU 8 131226709 131226709 single base substitution G A downstream_gene_variant MELA-AU 8 131226709 131226709 single base substitution G A intron_variant MELA-AU 8 131227028 131227028 single base substitution G A intron_variant MELA-AU 8 131227028 131227028 single base substitution G A upstream_gene_variant MELA-AU 8 131227282 131227282 single base substitution G A intron_variant MELA-AU 8 131227282 131227282 single base substitution G A upstream_gene_variant MELA-AU 8 131227617 131227617 single base substitution G A intron_variant MELA-AU 8 131227617 131227617 single base substitution G A upstream_gene_variant MELA-AU 8 131228180 131228180 single base substitution G A intron_variant MELA-AU 8 131228180 131228180 single base substitution G A upstream_gene_variant MELA-AU 8 131228312 131228312 single base substitution G A intron_variant MELA-AU 8 131228312 131228312 single base substitution G A upstream_gene_variant MELA-AU 8 131228328 131228328 single base substitution G T intron_variant MELA-AU 8 131228328 131228328 single base substitution G T upstream_gene_variant MELA-AU 8 131229887 131229887 single base substitution G A intron_variant MELA-AU 8 131229887 131229887 single base substitution G A upstream_gene_variant MELA-AU 8 131230392 131230392 single base substitution C T intron_variant MELA-AU 8 131230392 131230392 single base substitution C T upstream_gene_variant MELA-AU 8 131230834 131230834 single base substitution G A intron_variant MELA-AU 8 131230834 131230834 single base substitution G A upstream_gene_variant MELA-AU 8 131230875 131230875 single base substitution T C intron_variant MELA-AU 8 131230875 131230875 single base substitution T C upstream_gene_variant MELA-AU 8 131231782 131231782 single base substitution A T intron_variant MELA-AU 8 131231782 131231782 single base substitution A T upstream_gene_variant MELA-AU 8 131231991 131231991 single base substitution G A intron_variant MELA-AU 8 131232078 131232078 single base substitution C T intron_variant MELA-AU 8 131232478 131232478 single base substitution G A intron_variant MELA-AU 8 131232741 131232741 single base substitution A G intron_variant MELA-AU 8 131232874 131232874 single base substitution G A intron_variant MELA-AU 8 131233050 131233050 single base substitution G A intron_variant MELA-AU 8 131233326 131233326 single base substitution G A intron_variant MELA-AU 8 131233465 131233465 insertion of <=200bp - GT intron_variant MELA-AU 8 131233532 131233532 single base substitution G A intron_variant MELA-AU 8 131233535 131233535 single base substitution G A intron_variant MELA-AU 8 131233780 131233780 single base substitution G A intron_variant MELA-AU 8 131233950 131233950 single base substitution C T intron_variant MELA-AU 8 131234283 131234283 single base substitution G A intron_variant MELA-AU 8 131235765 131235765 single base substitution G A intron_variant MELA-AU 8 131236552 131236552 single base substitution G A intron_variant MELA-AU 8 131237066 131237066 deletion of <=200bp T - intron_variant MELA-AU 8 131239419 131239419 single base substitution C T intron_variant MELA-AU 8 131240089 131240089 single base substitution G A intron_variant MELA-AU 8 131240235 131240235 single base substitution G A intron_variant MELA-AU 8 131240636 131240636 single base substitution T G intron_variant MELA-AU 8 131241302 131241302 single base substitution G T intron_variant MELA-AU 8 131243114 131243114 single base substitution G A intron_variant MELA-AU 8 131243889 131243889 single base substitution G A intron_variant MELA-AU 8 131244456 131244456 single base substitution A G intron_variant MELA-AU 8 131244469 131244469 single base substitution A C intron_variant MELA-AU 8 131245190 131245190 single base substitution G A intron_variant MELA-AU 8 131245786 131245786 single base substitution T C intron_variant MELA-AU 8 131246130 131246130 single base substitution G A intron_variant MELA-AU 8 131247590 131247590 single base substitution C T intron_variant MELA-AU 8 131248143 131248143 single base substitution G A intron_variant MELA-AU 8 131249950 131249950 single base substitution G A intron_variant MELA-AU 8 131249950 131249950 single base substitution G A upstream_gene_variant MELA-AU 8 131252408 131252408 single base substitution G A intron_variant MELA-AU 8 131252408 131252408 single base substitution G A upstream_gene_variant MELA-AU 8 131254150 131254150 single base substitution G A intron_variant MELA-AU 8 131254150 131254150 single base substitution G A upstream_gene_variant MELA-AU 8 131255728 131255728 single base substitution G A intron_variant MELA-AU 8 131256920 131256920 single base substitution G A intron_variant MELA-AU 8 131257323 131257323 single base substitution G A intron_variant MELA-AU 8 131258150 131258150 single base substitution G A intron_variant MELA-AU 8 131258396 131258396 single base substitution G A intron_variant MELA-AU 8 131258771 131258771 single base substitution C T intron_variant MELA-AU 8 131258877 131258877 single base substitution G A intron_variant MELA-AU 8 131259588 131259588 single base substitution G A intron_variant MELA-AU 8 131259588 131259588 single base substitution G A upstream_gene_variant MELA-AU 8 131259763 131259763 single base substitution G A intron_variant MELA-AU 8 131259763 131259763 single base substitution G A upstream_gene_variant MELA-AU 8 131260335 131260335 single base substitution G A intron_variant MELA-AU 8 131260335 131260335 single base substitution G A upstream_gene_variant MELA-AU 8 131260342 131260342 single base substitution G A intron_variant MELA-AU 8 131260342 131260342 single base substitution G A upstream_gene_variant MELA-AU 8 131260366 131260366 single base substitution C T intron_variant MELA-AU 8 131260366 131260366 single base substitution C T upstream_gene_variant MELA-AU 8 131261015 131261015 single base substitution G A intron_variant MELA-AU 8 131261015 131261015 single base substitution G A upstream_gene_variant MELA-AU 8 131261739 131261739 single base substitution C T intron_variant MELA-AU 8 131261739 131261739 single base substitution C T upstream_gene_variant MELA-AU 8 131261842 131261842 single base substitution A C intron_variant MELA-AU 8 131261842 131261842 single base substitution A C upstream_gene_variant MELA-AU 8 131262521 131262521 single base substitution G A intron_variant MELA-AU 8 131262521 131262521 single base substitution G A upstream_gene_variant MELA-AU 8 131262579 131262579 single base substitution G A intron_variant MELA-AU 8 131262579 131262579 single base substitution G A upstream_gene_variant MELA-AU 8 131263256 131263256 single base substitution C T intron_variant MELA-AU 8 131263256 131263256 single base substitution C T upstream_gene_variant MELA-AU 8 131263865 131263865 single base substitution G A intron_variant MELA-AU 8 131263865 131263865 single base substitution G A upstream_gene_variant MELA-AU 8 131264003 131264003 single base substitution G A intron_variant MELA-AU 8 131264003 131264003 single base substitution G A upstream_gene_variant MELA-AU 8 131264841 131264841 single base substitution T C intron_variant MELA-AU 8 131265476 131265476 single base substitution G A intron_variant MELA-AU 8 131265490 131265490 single base substitution A G intron_variant MELA-AU 8 131265564 131265564 single base substitution G A intron_variant MELA-AU 8 131267247 131267247 single base substitution A T intron_variant MELA-AU 8 131267302 131267302 single base substitution G A intron_variant MELA-AU 8 131267864 131267864 single base substitution G A intron_variant MELA-AU 8 131268325 131268325 single base substitution G A intron_variant MELA-AU 8 131268627 131268627 single base substitution G A intron_variant MELA-AU 8 131268723 131268723 single base substitution G A intron_variant MELA-AU 8 131268822 131268822 single base substitution C T intron_variant MELA-AU 8 131268917 131268917 single base substitution G A intron_variant MELA-AU 8 131269901 131269901 single base substitution G A intron_variant MELA-AU 8 131270172 131270172 single base substitution C T intron_variant MELA-AU 8 131270687 131270687 single base substitution T G intron_variant MELA-AU 8 131271072 131271072 single base substitution G A intron_variant MELA-AU 8 131271573 131271574 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 8 131272342 131272342 single base substitution G A intron_variant MELA-AU 8 131273337 131273337 single base substitution G A intron_variant MELA-AU 8 131273599 131273621 deletion of <=200bp CTTTCAAGGGCATTTCTGCCTAT - intron_variant MELA-AU 8 131273724 131273724 single base substitution G A intron_variant MELA-AU 8 131274052 131274052 single base substitution T C intron_variant MELA-AU 8 131274301 131274301 single base substitution G A intron_variant MELA-AU 8 131274353 131274353 single base substitution G A intron_variant MELA-AU 8 131276136 131276136 single base substitution G A intron_variant MELA-AU 8 131277163 131277163 single base substitution G A intron_variant MELA-AU 8 131277177 131277177 single base substitution G A intron_variant MELA-AU 8 131278466 131278466 single base substitution G T intron_variant MELA-AU 8 131278760 131278760 single base substitution C T intron_variant MELA-AU 8 131278955 131278955 single base substitution G A intron_variant MELA-AU 8 131279438 131279438 single base substitution G A intron_variant MELA-AU 8 131279475 131279475 single base substitution C T intron_variant MELA-AU 8 131279748 131279748 single base substitution G A intron_variant MELA-AU 8 131279793 131279793 single base substitution G A intron_variant MELA-AU 8 131279883 131279883 single base substitution A G intron_variant MELA-AU 8 131279965 131279965 single base substitution A T intron_variant MELA-AU 8 131279998 131279998 single base substitution G A intron_variant MELA-AU 8 131280381 131280381 single base substitution G A intron_variant MELA-AU 8 131280397 131280397 single base substitution G A intron_variant MELA-AU 8 131280578 131280578 single base substitution A T intron_variant MELA-AU 8 131280684 131280684 single base substitution G A intron_variant MELA-AU 8 131280837 131280837 single base substitution C A intron_variant MELA-AU 8 131280957 131280957 single base substitution C T intron_variant MELA-AU 8 131282181 131282181 single base substitution G A intron_variant MELA-AU 8 131283705 131283705 single base substitution T C intron_variant MELA-AU 8 131283870 131283870 single base substitution G A intron_variant MELA-AU 8 131284388 131284388 single base substitution G A intron_variant MELA-AU 8 131284430 131284430 single base substitution G A intron_variant MELA-AU 8 131284610 131284610 single base substitution G A intron_variant MELA-AU 8 131284618 131284618 single base substitution G A intron_variant MELA-AU 8 131285456 131285456 deletion of <=200bp T - intron_variant MELA-AU 8 131285955 131285955 single base substitution T C intron_variant MELA-AU 8 131285964 131285964 single base substitution G A intron_variant MELA-AU 8 131285967 131285967 single base substitution G A intron_variant MELA-AU 8 131286143 131286143 single base substitution C T intron_variant MELA-AU 8 131286604 131286604 single base substitution G A intron_variant MELA-AU 8 131287302 131287302 single base substitution A G intron_variant MELA-AU 8 131288528 131288528 single base substitution G A intron_variant MELA-AU 8 131288863 131288863 single base substitution C T intron_variant MELA-AU 8 131289358 131289358 single base substitution G A intron_variant MELA-AU 8 131289481 131289481 single base substitution G A intron_variant MELA-AU 8 131289673 131289673 single base substitution A G intron_variant MELA-AU 8 131290198 131290198 single base substitution G A intron_variant MELA-AU 8 131290229 131290229 single base substitution G A intron_variant MELA-AU 8 131290909 131290909 single base substitution G A intron_variant MELA-AU 8 131291008 131291008 single base substitution G A intron_variant MELA-AU 8 131291401 131291401 single base substitution G A intron_variant MELA-AU 8 131291446 131291446 single base substitution G A intron_variant MELA-AU 8 131291609 131291609 single base substitution G A intron_variant MELA-AU 8 131291700 131291700 single base substitution G A intron_variant MELA-AU 8 131291806 131291806 single base substitution T A intron_variant MELA-AU 8 131292021 131292021 single base substitution G A intron_variant MELA-AU 8 131292025 131292025 single base substitution G A intron_variant MELA-AU 8 131292733 131292733 single base substitution A G intron_variant MELA-AU 8 131292792 131292792 single base substitution G A intron_variant MELA-AU 8 131293511 131293512 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 131293974 131293974 single base substitution T A intron_variant MELA-AU 8 131294332 131294332 single base substitution G A intron_variant MELA-AU 8 131295460 131295460 single base substitution A G intron_variant MELA-AU 8 131297147 131297147 single base substitution A G intron_variant MELA-AU 8 131297353 131297353 single base substitution G A intron_variant MELA-AU 8 131297570 131297570 single base substitution A G intron_variant MELA-AU 8 131297723 131297723 single base substitution A G intron_variant MELA-AU 8 131297730 131297730 single base substitution A T intron_variant MELA-AU 8 131297754 131297754 single base substitution G A intron_variant MELA-AU 8 131298250 131298250 single base substitution T C intron_variant MELA-AU 8 131299279 131299279 single base substitution G A intron_variant MELA-AU 8 131299752 131299753 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131301048 131301048 single base substitution G A intron_variant MELA-AU 8 131301229 131301229 single base substitution G A intron_variant MELA-AU 8 131301279 131301279 single base substitution A T intron_variant MELA-AU 8 131301318 131301318 single base substitution G A intron_variant MELA-AU 8 131301457 131301457 single base substitution A C intron_variant MELA-AU 8 131301497 131301497 single base substitution G A intron_variant MELA-AU 8 131301751 131301751 single base substitution G A intron_variant MELA-AU 8 131301791 131301791 single base substitution G A intron_variant MELA-AU 8 131302541 131302541 single base substitution T G intron_variant MELA-AU 8 131302615 131302615 single base substitution G A intron_variant MELA-AU 8 131302802 131302802 single base substitution G A intron_variant MELA-AU 8 131303337 131303337 single base substitution A G intron_variant MELA-AU 8 131303707 131303707 single base substitution T A intron_variant MELA-AU 8 131304129 131304129 single base substitution G A intron_variant MELA-AU 8 131304130 131304130 single base substitution G C intron_variant MELA-AU 8 131304161 131304162 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 131304789 131304789 single base substitution G A intron_variant MELA-AU 8 131305265 131305265 single base substitution T C intron_variant MELA-AU 8 131305767 131305767 single base substitution A G intron_variant MELA-AU 8 131305874 131305874 single base substitution G A intron_variant MELA-AU 8 131306076 131306076 single base substitution G A intron_variant MELA-AU 8 131306425 131306425 single base substitution G A intron_variant MELA-AU 8 131307647 131307659 deletion of <=200bp AGTAGTTCCTGAA - intron_variant MELA-AU 8 131307751 131307751 single base substitution G A intron_variant MELA-AU 8 131308402 131308402 single base substitution G A intron_variant MELA-AU 8 131308641 131308641 single base substitution T A intron_variant MELA-AU 8 131309908 131309908 single base substitution G A intron_variant MELA-AU 8 131309981 131309981 single base substitution G A intron_variant MELA-AU 8 131310026 131310026 single base substitution G A intron_variant MELA-AU 8 131310028 131310028 single base substitution G A intron_variant MELA-AU 8 131311427 131311427 single base substitution T A intron_variant MELA-AU 8 131311611 131311611 single base substitution G A intron_variant MELA-AU 8 131312028 131312028 single base substitution G A intron_variant MELA-AU 8 131312108 131312108 single base substitution G A intron_variant MELA-AU 8 131312248 131312248 single base substitution A G intron_variant MELA-AU 8 131312993 131312993 single base substitution C T intron_variant MELA-AU 8 131313060 131313060 single base substitution G A intron_variant MELA-AU 8 131313156 131313156 single base substitution G T intron_variant MELA-AU 8 131313182 131313182 single base substitution G A intron_variant MELA-AU 8 131313280 131313280 single base substitution G A intron_variant MELA-AU 8 131313608 131313608 single base substitution A T intron_variant MELA-AU 8 131315179 131315179 single base substitution G T intron_variant MELA-AU 8 131315242 131315242 single base substitution G A intron_variant MELA-AU 8 131316399 131316399 single base substitution C T intron_variant MELA-AU 8 131317354 131317354 single base substitution A G intron_variant MELA-AU 8 131317390 131317390 single base substitution C T intron_variant MELA-AU 8 131317816 131317816 single base substitution G A intron_variant MELA-AU 8 131319358 131319358 single base substitution A C intron_variant MELA-AU 8 131319436 131319436 single base substitution G A intron_variant MELA-AU 8 131319707 131319707 single base substitution G A intron_variant MELA-AU 8 131321074 131321074 single base substitution G A intron_variant MELA-AU 8 131321448 131321448 single base substitution T C intron_variant MELA-AU 8 131321462 131321462 single base substitution G A intron_variant MELA-AU 8 131322484 131322484 single base substitution G A intron_variant MELA-AU 8 131322577 131322577 single base substitution G A intron_variant MELA-AU 8 131323736 131323736 single base substitution G A intron_variant MELA-AU 8 131323902 131323902 single base substitution G A intron_variant MELA-AU 8 131323995 131323995 single base substitution G A intron_variant MELA-AU 8 131324335 131324335 insertion of <=200bp - TG intron_variant MELA-AU 8 131325244 131325244 single base substitution G A intron_variant MELA-AU 8 131325401 131325401 single base substitution G A intron_variant MELA-AU 8 131325444 131325444 single base substitution G A intron_variant MELA-AU 8 131325701 131325701 single base substitution G A intron_variant MELA-AU 8 131326459 131326459 single base substitution A G intron_variant MELA-AU 8 131326688 131326688 single base substitution G A intron_variant MELA-AU 8 131326909 131326909 single base substitution G A intron_variant MELA-AU 8 131327598 131327598 single base substitution G A intron_variant MELA-AU 8 131327768 131327768 single base substitution G A intron_variant MELA-AU 8 131327784 131327784 single base substitution C A intron_variant MELA-AU 8 131329384 131329384 single base substitution A T intron_variant MELA-AU 8 131329791 131329791 single base substitution G A intron_variant MELA-AU 8 131330247 131330247 single base substitution G A intron_variant MELA-AU 8 131330597 131330597 single base substitution G A intron_variant MELA-AU 8 131332373 131332373 single base substitution G A intron_variant MELA-AU 8 131332509 131332509 single base substitution G A intron_variant MELA-AU 8 131332562 131332562 single base substitution G A intron_variant MELA-AU 8 131332594 131332594 single base substitution G C intron_variant MELA-AU 8 131333180 131333180 single base substitution C G intron_variant MELA-AU 8 131333740 131333740 single base substitution G A intron_variant MELA-AU 8 131334978 131334978 single base substitution T C intron_variant MELA-AU 8 131335102 131335102 single base substitution G A intron_variant MELA-AU 8 131336657 131336657 single base substitution G A intron_variant MELA-AU 8 131336741 131336741 single base substitution G A intron_variant MELA-AU 8 131338250 131338250 single base substitution G A intron_variant MELA-AU 8 131338824 131338824 single base substitution T A intron_variant MELA-AU 8 131340194 131340194 single base substitution G A intron_variant MELA-AU 8 131340213 131340213 single base substitution G A intron_variant MELA-AU 8 131341160 131341160 single base substitution G A intron_variant MELA-AU 8 131341449 131341450 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131342590 131342590 single base substitution G A intron_variant MELA-AU 8 131343303 131343303 single base substitution G A intron_variant MELA-AU 8 131343304 131343304 single base substitution G A intron_variant MELA-AU 8 131343429 131343429 single base substitution G A intron_variant MELA-AU 8 131343695 131343695 single base substitution G A intron_variant MELA-AU 8 131344043 131344043 single base substitution C T intron_variant MELA-AU 8 131344087 131344087 single base substitution G A intron_variant MELA-AU 8 131345188 131345188 single base substitution A G intron_variant MELA-AU 8 131345745 131345745 single base substitution G T intron_variant MELA-AU 8 131346337 131346337 single base substitution G A intron_variant MELA-AU 8 131346560 131346560 single base substitution G A intron_variant MELA-AU 8 131347631 131347631 single base substitution C T intron_variant MELA-AU 8 131348942 131348943 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131348944 131348944 single base substitution G T intron_variant MELA-AU 8 131350332 131350332 single base substitution G A intron_variant MELA-AU 8 131350333 131350333 single base substitution G A intron_variant MELA-AU 8 131351120 131351120 single base substitution C A intron_variant MELA-AU 8 131351291 131351291 single base substitution G A intron_variant MELA-AU 8 131352741 131352741 single base substitution G A intron_variant MELA-AU 8 131353254 131353254 single base substitution G A intron_variant MELA-AU 8 131353254 131353254 single base substitution G A upstream_gene_variant MELA-AU 8 131353453 131353453 single base substitution G A intron_variant MELA-AU 8 131353453 131353453 single base substitution G A upstream_gene_variant MELA-AU 8 131353693 131353693 single base substitution A T intron_variant MELA-AU 8 131353693 131353693 single base substitution A T upstream_gene_variant MELA-AU 8 131354411 131354411 single base substitution T A intron_variant MELA-AU 8 131354411 131354411 single base substitution T A upstream_gene_variant MELA-AU 8 131354564 131354564 single base substitution T A intron_variant MELA-AU 8 131354564 131354564 single base substitution T A upstream_gene_variant MELA-AU 8 131354948 131354948 single base substitution G A intron_variant MELA-AU 8 131354948 131354948 single base substitution G A upstream_gene_variant MELA-AU 8 131356457 131356457 single base substitution G A intron_variant MELA-AU 8 131356457 131356457 single base substitution G A upstream_gene_variant MELA-AU 8 131356534 131356534 single base substitution G A intron_variant MELA-AU 8 131356534 131356534 single base substitution G A upstream_gene_variant MELA-AU 8 131356545 131356545 single base substitution G A intron_variant MELA-AU 8 131356545 131356545 single base substitution G A upstream_gene_variant MELA-AU 8 131356638 131356638 single base substitution A G intron_variant MELA-AU 8 131356638 131356638 single base substitution A G upstream_gene_variant MELA-AU 8 131357248 131357248 single base substitution G A intron_variant MELA-AU 8 131357248 131357248 single base substitution G A upstream_gene_variant MELA-AU 8 131358288 131358288 single base substitution A T intron_variant MELA-AU 8 131359985 131359985 single base substitution G A intron_variant MELA-AU 8 131360953 131360953 single base substitution T A intron_variant MELA-AU 8 131361456 131361456 single base substitution G A intron_variant MELA-AU 8 131361715 131361715 single base substitution T C intron_variant MELA-AU 8 131361843 131361843 single base substitution G A intron_variant MELA-AU 8 131361968 131361968 single base substitution C T intron_variant MELA-AU 8 131362226 131362226 single base substitution G A intron_variant MELA-AU 8 131362689 131362689 single base substitution G A intron_variant MELA-AU 8 131362939 131362939 single base substitution G A intron_variant MELA-AU 8 131363478 131363478 single base substitution G A intron_variant MELA-AU 8 131363494 131363494 single base substitution G A intron_variant MELA-AU 8 131363645 131363645 single base substitution G A intron_variant MELA-AU 8 131363883 131363883 single base substitution G A intron_variant MELA-AU 8 131364476 131364476 single base substitution T C intron_variant MELA-AU 8 131364623 131364623 single base substitution A C intron_variant MELA-AU 8 131365597 131365597 single base substitution G A intron_variant MELA-AU 8 131366418 131366418 single base substitution G A intron_variant MELA-AU 8 131366541 131366541 single base substitution G A intron_variant MELA-AU 8 131369205 131369205 single base substitution C T downstream_gene_variant MELA-AU 8 131369205 131369205 single base substitution C T intron_variant MELA-AU 8 131371635 131371635 single base substitution G A downstream_gene_variant MELA-AU 8 131371635 131371635 single base substitution G A intron_variant MELA-AU 8 131372860 131372860 single base substitution G A downstream_gene_variant MELA-AU 8 131372860 131372860 single base substitution G A intron_variant MELA-AU 8 131373730 131373730 single base substitution C A intron_variant MELA-AU 8 131374182 131374182 single base substitution C T intron_variant MELA-AU 8 131374498 131374498 single base substitution G A intron_variant MELA-AU 8 131375363 131375363 single base substitution G C intron_variant MELA-AU 8 131375660 131375660 single base substitution T A intron_variant MELA-AU 8 131375677 131375677 single base substitution C T intron_variant MELA-AU 8 131376771 131376771 single base substitution T C intron_variant MELA-AU 8 131376863 131376863 single base substitution G A intron_variant MELA-AU 8 131378735 131378735 single base substitution G A intron_variant MELA-AU 8 131379322 131379322 single base substitution G A intron_variant MELA-AU 8 131379846 131379846 single base substitution C T intron_variant MELA-AU 8 131381488 131381488 single base substitution G A intron_variant MELA-AU 8 131382416 131382416 single base substitution C T intron_variant MELA-AU 8 131383488 131383488 single base substitution A T intron_variant MELA-AU 8 131383609 131383609 single base substitution T C intron_variant MELA-AU 8 131384063 131384063 single base substitution G A intron_variant MELA-AU 8 131384152 131384152 single base substitution C T intron_variant MELA-AU 8 131384340 131384340 single base substitution G A intron_variant MELA-AU 8 131384699 131384699 single base substitution G A intron_variant MELA-AU 8 131386920 131386920 single base substitution G A intron_variant MELA-AU 8 131387104 131387104 single base substitution A G intron_variant MELA-AU 8 131387216 131387216 single base substitution G A intron_variant MELA-AU 8 131387435 131387435 single base substitution G A intron_variant MELA-AU 8 131387824 131387824 single base substitution C T intron_variant MELA-AU 8 131388911 131388911 single base substitution G A intron_variant MELA-AU 8 131388997 131388997 single base substitution A T intron_variant MELA-AU 8 131389773 131389773 single base substitution G A intron_variant MELA-AU 8 131390588 131390588 single base substitution G A intron_variant MELA-AU 8 131390989 131390989 single base substitution G A intron_variant MELA-AU 8 131391880 131391880 single base substitution G A intron_variant MELA-AU 8 131392429 131392429 single base substitution G A intron_variant MELA-AU 8 131392616 131392616 single base substitution G A intron_variant MELA-AU 8 131393464 131393464 single base substitution G A intron_variant MELA-AU 8 131393471 131393471 single base substitution C G intron_variant MELA-AU 8 131394221 131394222 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131395896 131395896 single base substitution G A intron_variant MELA-AU 8 131395979 131395979 single base substitution A C intron_variant MELA-AU 8 131396203 131396203 single base substitution C A intron_variant MELA-AU 8 131396224 131396224 single base substitution C T intron_variant MELA-AU 8 131396699 131396699 single base substitution G A intron_variant MELA-AU 8 131396716 131396716 single base substitution G A intron_variant MELA-AU 8 131396815 131396815 single base substitution C T intron_variant MELA-AU 8 131397635 131397635 single base substitution A C intron_variant MELA-AU 8 131398173 131398173 single base substitution G A intron_variant MELA-AU 8 131398759 131398759 single base substitution G A intron_variant MELA-AU 8 131400013 131400013 single base substitution G A intron_variant MELA-AU 8 131400013 131400013 single base substitution G A upstream_gene_variant MELA-AU 8 131400554 131400554 single base substitution A G intron_variant MELA-AU 8 131400554 131400554 single base substitution A G upstream_gene_variant MELA-AU 8 131401051 131401051 single base substitution G A intron_variant MELA-AU 8 131401051 131401051 single base substitution G A upstream_gene_variant MELA-AU 8 131401487 131401487 single base substitution C T intron_variant MELA-AU 8 131401487 131401487 single base substitution C T upstream_gene_variant MELA-AU 8 131403072 131403072 single base substitution G A intron_variant MELA-AU 8 131403072 131403072 single base substitution G A upstream_gene_variant MELA-AU 8 131403192 131403192 single base substitution C A intron_variant MELA-AU 8 131403192 131403192 single base substitution C A upstream_gene_variant MELA-AU 8 131403207 131403207 single base substitution G A intron_variant MELA-AU 8 131403207 131403207 single base substitution G A upstream_gene_variant MELA-AU 8 131403358 131403358 single base substitution G A intron_variant MELA-AU 8 131403358 131403358 single base substitution G A upstream_gene_variant MELA-AU 8 131403798 131403798 single base substitution G A intron_variant MELA-AU 8 131403798 131403798 single base substitution G A upstream_gene_variant MELA-AU 8 131404437 131404437 single base substitution A G intron_variant MELA-AU 8 131404660 131404660 single base substitution T C intron_variant MELA-AU 8 131405119 131405119 single base substitution G A intron_variant MELA-AU 8 131405760 131405761 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131406436 131406437 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 8 131406650 131406650 single base substitution G A intron_variant MELA-AU 8 131407187 131407187 single base substitution G A intron_variant MELA-AU 8 131407414 131407414 single base substitution G A intron_variant MELA-AU 8 131407595 131407595 single base substitution C T intron_variant MELA-AU 8 131409318 131409318 single base substitution G A intron_variant MELA-AU 8 131410059 131410059 single base substitution G A intron_variant MELA-AU 8 131410213 131410213 single base substitution A G intron_variant MELA-AU 8 131411324 131411324 single base substitution G A intron_variant MELA-AU 8 131412617 131412617 single base substitution C T intron_variant MELA-AU 8 131412737 131412737 single base substitution G A intron_variant MELA-AU 8 131412853 131412853 single base substitution G A intron_variant MELA-AU 8 131413202 131413202 single base substitution C G intron_variant MELA-AU 8 131413359 131413359 single base substitution C T intron_variant MELA-AU 8 131413380 131413380 single base substitution G C intron_variant MELA-AU 8 131413729 131413729 single base substitution G A intron_variant MELA-AU 8 131413929 131413929 single base substitution G A intron_variant MELA-AU 8 131414058 131414058 single base substitution C T intron_variant MELA-AU 8 131414155 131414155 single base substitution G A exon_variant MELA-AU 8 131414155 131414155 single base substitution G A missense_variant S12L 35C>T MELA-AU 8 131414603 131414603 single base substitution A T intron_variant MELA-AU 8 131414603 131414603 single base substitution A T upstream_gene_variant MELA-AU 8 131416097 131416097 single base substitution G A intron_variant MELA-AU 8 131416097 131416097 single base substitution G A upstream_gene_variant MELA-AU 8 131417015 131417015 single base substitution G A intron_variant MELA-AU 8 131417015 131417015 single base substitution G A upstream_gene_variant MELA-AU 8 131417791 131417792 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 131417791 131417792 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 131417934 131417934 single base substitution G A intron_variant MELA-AU 8 131417934 131417934 single base substitution G A upstream_gene_variant MELA-AU 8 131418791 131418791 single base substitution G A intron_variant MELA-AU 8 131418791 131418791 single base substitution G A upstream_gene_variant MELA-AU 8 131418863 131418863 single base substitution G A intron_variant MELA-AU 8 131418863 131418863 single base substitution G A upstream_gene_variant MELA-AU 8 131418921 131418921 single base substitution G A intron_variant MELA-AU 8 131418921 131418921 single base substitution G A upstream_gene_variant MELA-AU 8 131419561 131419561 single base substitution G A intron_variant MELA-AU 8 131420532 131420532 deletion of <=200bp T - intron_variant MELA-AU 8 131421008 131421008 single base substitution G A intron_variant MELA-AU 8 131421695 131421695 single base substitution G T intron_variant MELA-AU 8 131422204 131422204 single base substitution G A intron_variant MELA-AU 8 131422370 131422370 single base substitution C T intron_variant MELA-AU 8 131422504 131422504 single base substitution G A intron_variant MELA-AU 8 131422615 131422615 single base substitution G A intron_variant MELA-AU 8 131423033 131423033 single base substitution C T intron_variant MELA-AU 8 131423116 131423116 single base substitution C T intron_variant MELA-AU 8 131423155 131423155 single base substitution G A intron_variant MELA-AU 8 131423240 131423240 single base substitution G A intron_variant MELA-AU 8 131423328 131423328 single base substitution G A intron_variant MELA-AU 8 131423631 131423631 single base substitution G A intron_variant MELA-AU 8 131423842 131423842 single base substitution G A intron_variant MELA-AU 8 131424678 131424678 single base substitution C T intron_variant MELA-AU 8 131424849 131424849 single base substitution A T intron_variant MELA-AU 8 131427652 131427652 single base substitution T C intron_variant MELA-AU 8 131427703 131427703 single base substitution G A intron_variant MELA-AU 8 131427871 131427871 single base substitution G A intron_variant MELA-AU 8 131428142 131428143 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131428209 131428209 single base substitution T A intron_variant MELA-AU 8 131429267 131429267 single base substitution G A intron_variant MELA-AU 8 131429447 131429447 single base substitution C T intron_variant MELA-AU 8 131430078 131430078 single base substitution C A intron_variant MELA-AU 8 131430143 131430143 single base substitution C T intron_variant MELA-AU 8 131431279 131431279 single base substitution G A intron_variant MELA-AU 8 131432007 131432007 single base substitution T A intron_variant MELA-AU 8 131433976 131433976 single base substitution G A intron_variant MELA-AU 8 131434133 131434133 single base substitution G A intron_variant MELA-AU 8 131434443 131434443 single base substitution G A intron_variant MELA-AU 8 131434445 131434445 single base substitution G C intron_variant MELA-AU 8 131434495 131434495 single base substitution G A intron_variant MELA-AU 8 131435453 131435453 single base substitution G A intron_variant MELA-AU 8 131437215 131437215 single base substitution G A intron_variant MELA-AU 8 131437499 131437499 single base substitution A G intron_variant MELA-AU 8 131437567 131437568 multiple base substitution (>=2bp and <=200bp) GA CC intron_variant MELA-AU 8 131438155 131438155 single base substitution G A intron_variant MELA-AU 8 131438658 131438658 single base substitution G A intron_variant MELA-AU 8 131439146 131439147 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131439621 131439621 single base substitution G A intron_variant MELA-AU 8 131439803 131439803 single base substitution T C intron_variant MELA-AU 8 131439873 131439873 single base substitution G A intron_variant MELA-AU 8 131439993 131439993 single base substitution C T 5_prime_UTR_variant MELA-AU 8 131439993 131439993 single base substitution C T intron_variant MELA-AU 8 131440002 131440002 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 131440002 131440002 single base substitution G A intron_variant MELA-AU 8 131440925 131440925 single base substitution A C intron_variant MELA-AU 8 131440925 131440925 single base substitution A C upstream_gene_variant MELA-AU 8 131441403 131441403 single base substitution G A intron_variant MELA-AU 8 131441403 131441403 single base substitution G A upstream_gene_variant MELA-AU 8 131442129 131442131 deletion of <=200bp TTG - intron_variant MELA-AU 8 131442129 131442131 deletion of <=200bp TTG - upstream_gene_variant MELA-AU 8 131442560 131442560 single base substitution T G intron_variant MELA-AU 8 131442560 131442560 single base substitution T G upstream_gene_variant MELA-AU 8 131443684 131443684 single base substitution G A intron_variant MELA-AU 8 131443684 131443684 single base substitution G A upstream_gene_variant MELA-AU 8 131443870 131443870 single base substitution G A intron_variant MELA-AU 8 131443870 131443870 single base substitution G A upstream_gene_variant MELA-AU 8 131444171 131444171 single base substitution G A intron_variant MELA-AU 8 131444171 131444171 single base substitution G A upstream_gene_variant MELA-AU 8 131444517 131444517 single base substitution G A intron_variant MELA-AU 8 131444517 131444517 single base substitution G A upstream_gene_variant MELA-AU 8 131444583 131444583 single base substitution G A intron_variant MELA-AU 8 131444583 131444583 single base substitution G A upstream_gene_variant MELA-AU 8 131445090 131445090 single base substitution A G intron_variant MELA-AU 8 131447047 131447048 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 131447910 131447910 single base substitution G A intron_variant MELA-AU 8 131448218 131448218 single base substitution C G intron_variant MELA-AU 8 131448956 131448956 single base substitution G A intron_variant MELA-AU 8 131449058 131449058 single base substitution A T intron_variant MELA-AU 8 131449278 131449278 single base substitution G A intron_variant MELA-AU 8 131449704 131449704 single base substitution G A intron_variant MELA-AU 8 131450127 131450127 single base substitution A G intron_variant MELA-AU 8 131451754 131451754 single base substitution G A intron_variant MELA-AU 8 131452680 131452680 single base substitution G A intron_variant MELA-AU 8 131453127 131453127 single base substitution G A intron_variant MELA-AU 8 131456724 131456724 single base substitution G A upstream_gene_variant MELA-AU 8 131457163 131457163 single base substitution A G upstream_gene_variant MELA-AU 8 131457486 131457486 single base substitution C T upstream_gene_variant MELA-AU 8 131458185 131458185 single base substitution T G upstream_gene_variant MELA-AU 8 131458816 131458816 single base substitution C T upstream_gene_variant MELA-AU 8 131459139 131459139 single base substitution C T upstream_gene_variant MELA-AU 8 131459442 131459442 single base substitution G A upstream_gene_variant MELA-AU 8 131459695 131459695 single base substitution G A upstream_gene_variant MELA-AU 8 131459860 131459860 single base substitution G A upstream_gene_variant MELA-AU 8 131459871 131459871 single base substitution G A upstream_gene_variant MELA-AU 8 131459888 131459888 single base substitution G A upstream_gene_variant MELA-AU 8 131460231 131460231 single base substitution G A upstream_gene_variant MELA-AU 8 131460244 131460244 single base substitution T C upstream_gene_variant MELA-AU 8 131460254 131460254 single base substitution G A upstream_gene_variant MELA-AU 8 131460329 131460329 single base substitution C T upstream_gene_variant MELA-AU 8 131460634 131460634 single base substitution G A upstream_gene_variant MELA-AU 8 131460696 131460696 single base substitution C T upstream_gene_variant ORCA-IN 8 131073295 131073295 single base substitution G A 3_prime_UTR_variant ORCA-IN 8 131073295 131073295 single base substitution G A missense_variant H264Y 790C>T ORCA-IN 8 131073295 131073295 single base substitution G A missense_variant H728Y 2182C>T ORCA-IN 8 131073295 131073295 single base substitution G A missense_variant H908Y 2722C>T ORCA-IN 8 131077865 131077865 single base substitution T C intron_variant ORCA-IN 8 131119773 131119773 single base substitution T A intron_variant ORCA-IN 8 131120312 131120312 single base substitution C G intron_variant ORCA-IN 8 131127883 131127883 single base substitution C T 3_prime_UTR_variant ORCA-IN 8 131127883 131127883 single base substitution C T exon_variant ORCA-IN 8 131127883 131127883 single base substitution C T synonymous_variant L134L 402G>A ORCA-IN 8 131127883 131127883 single base substitution C T synonymous_variant L541L 1623G>A ORCA-IN 8 131127883 131127883 single base substitution C T synonymous_variant L721L 2163G>A ORCA-IN 8 131127883 131127883 single base substitution C T upstream_gene_variant ORCA-IN 8 131140181 131140181 single base substitution C A 3_prime_UTR_variant ORCA-IN 8 131140181 131140181 single base substitution C A missense_variant G278V 833G>T ORCA-IN 8 131140181 131140181 single base substitution C A missense_variant G458V 1373G>T ORCA-IN 8 131220044 131220044 single base substitution A G intron_variant ORCA-IN 8 131225202 131225202 single base substitution C T downstream_gene_variant ORCA-IN 8 131225202 131225202 single base substitution C T intron_variant ORCA-IN 8 131230009 131230009 single base substitution T C intron_variant ORCA-IN 8 131230009 131230009 single base substitution T C upstream_gene_variant ORCA-IN 8 131231713 131231713 single base substitution G C intron_variant ORCA-IN 8 131231713 131231713 single base substitution G C upstream_gene_variant ORCA-IN 8 131232111 131232111 single base substitution C G intron_variant ORCA-IN 8 131238985 131238985 single base substitution C A intron_variant ORCA-IN 8 131242345 131242345 single base substitution A C intron_variant ORCA-IN 8 131308988 131308988 single base substitution C T intron_variant ORCA-IN 8 131331084 131331084 single base substitution G A intron_variant ORCA-IN 8 131334080 131334080 single base substitution G A intron_variant ORCA-IN 8 131357750 131357750 single base substitution C G intron_variant ORCA-IN 8 131357750 131357750 single base substitution C G upstream_gene_variant ORCA-IN 8 131358185 131358185 single base substitution C G intron_variant ORCA-IN 8 131369196 131369196 single base substitution G A downstream_gene_variant ORCA-IN 8 131369196 131369196 single base substitution G A intron_variant ORCA-IN 8 131412158 131412158 single base substitution C T intron_variant ORCA-IN 8 131432200 131432201 deletion of <=200bp TC - intron_variant ORCA-IN 8 131439682 131439682 single base substitution G A intron_variant OV-AU 8 131068486 131068486 single base substitution T C intron_variant OV-AU 8 131068620 131068620 single base substitution C T intron_variant OV-AU 8 131068834 131068834 single base substitution T C intron_variant OV-AU 8 131071053 131071053 single base substitution C T intron_variant OV-AU 8 131071184 131071184 single base substitution T A intron_variant OV-AU 8 131075943 131075943 single base substitution C T intron_variant OV-AU 8 131078210 131078210 single base substitution C T intron_variant OV-AU 8 131087793 131087793 single base substitution A G downstream_gene_variant OV-AU 8 131087793 131087793 single base substitution A G intron_variant OV-AU 8 131093739 131093739 single base substitution C T intron_variant OV-AU 8 131093919 131093919 single base substitution C T intron_variant OV-AU 8 131094651 131094651 single base substitution T A intron_variant OV-AU 8 131099313 131099313 single base substitution G A intron_variant OV-AU 8 131100162 131100162 single base substitution A C intron_variant OV-AU 8 131107081 131107081 single base substitution T C intron_variant OV-AU 8 131109216 131109216 single base substitution T A intron_variant OV-AU 8 131110744 131110744 single base substitution C A intron_variant OV-AU 8 131124023 131124023 single base substitution G C downstream_gene_variant OV-AU 8 131124023 131124023 single base substitution G C intron_variant OV-AU 8 131126010 131126010 single base substitution C T downstream_gene_variant OV-AU 8 131126010 131126010 single base substitution C T intron_variant OV-AU 8 131126010 131126010 single base substitution C T upstream_gene_variant OV-AU 8 131126452 131126452 single base substitution C G downstream_gene_variant OV-AU 8 131126452 131126452 single base substitution C G intron_variant OV-AU 8 131126452 131126452 single base substitution C G upstream_gene_variant OV-AU 8 131126465 131126465 single base substitution C A downstream_gene_variant OV-AU 8 131126465 131126465 single base substitution C A intron_variant OV-AU 8 131126465 131126465 single base substitution C A upstream_gene_variant OV-AU 8 131129188 131129188 single base substitution C G 3_prime_UTR_variant OV-AU 8 131129188 131129188 single base substitution C G exon_variant OV-AU 8 131129188 131129188 single base substitution C G missense_variant S465T 1394G>C OV-AU 8 131129188 131129188 single base substitution C G missense_variant S58T 173G>C OV-AU 8 131129188 131129188 single base substitution C G missense_variant S645T 1934G>C OV-AU 8 131129188 131129188 single base substitution C G upstream_gene_variant OV-AU 8 131129235 131129235 single base substitution G T 3_prime_UTR_variant OV-AU 8 131129235 131129235 single base substitution G T exon_variant OV-AU 8 131129235 131129235 single base substitution G T missense_variant N42K 126C>A OV-AU 8 131129235 131129235 single base substitution G T missense_variant N449K 1347C>A OV-AU 8 131129235 131129235 single base substitution G T missense_variant N629K 1887C>A OV-AU 8 131129235 131129235 single base substitution G T upstream_gene_variant OV-AU 8 131129283 131129283 single base substitution A G intron_variant OV-AU 8 131129283 131129283 single base substitution A G upstream_gene_variant OV-AU 8 131142200 131142200 single base substitution C G intron_variant OV-AU 8 131146568 131146568 single base substitution C T 3_prime_UTR_variant OV-AU 8 131146568 131146568 single base substitution C T synonymous_variant Q217Q 651G>A OV-AU 8 131146568 131146568 single base substitution C T synonymous_variant Q397Q 1191G>A OV-AU 8 131151597 131151597 single base substitution T A intron_variant OV-AU 8 131162062 131162062 single base substitution G C downstream_gene_variant OV-AU 8 131162062 131162062 single base substitution G C intron_variant OV-AU 8 131162145 131162145 single base substitution C T downstream_gene_variant OV-AU 8 131162145 131162145 single base substitution C T intron_variant OV-AU 8 131164624 131164624 single base substitution T C downstream_gene_variant OV-AU 8 131164624 131164624 single base substitution T C intron_variant OV-AU 8 131165609 131165609 single base substitution A G intron_variant OV-AU 8 131168329 131168329 single base substitution C T intron_variant OV-AU 8 131168593 131168593 single base substitution A T intron_variant OV-AU 8 131169493 131169493 single base substitution T C intron_variant OV-AU 8 131169942 131169942 single base substitution T C intron_variant OV-AU 8 131176335 131176335 single base substitution T G intron_variant OV-AU 8 131176335 131176335 single base substitution T G upstream_gene_variant OV-AU 8 131186848 131186848 single base substitution C T downstream_gene_variant OV-AU 8 131186848 131186848 single base substitution C T intron_variant OV-AU 8 131189969 131189969 single base substitution T C downstream_gene_variant OV-AU 8 131189969 131189969 single base substitution T C intron_variant OV-AU 8 131196972 131196972 single base substitution A G intron_variant OV-AU 8 131196972 131196972 single base substitution A G upstream_gene_variant OV-AU 8 131202306 131202306 single base substitution G A intron_variant OV-AU 8 131205385 131205385 single base substitution C T downstream_gene_variant OV-AU 8 131205385 131205385 single base substitution C T intron_variant OV-AU 8 131205650 131205650 single base substitution C A downstream_gene_variant OV-AU 8 131205650 131205650 single base substitution C A intron_variant OV-AU 8 131206156 131206156 single base substitution C T downstream_gene_variant OV-AU 8 131206156 131206156 single base substitution C T intron_variant OV-AU 8 131207610 131207610 single base substitution C G exon_variant OV-AU 8 131207610 131207610 single base substitution C G intron_variant OV-AU 8 131216997 131216997 single base substitution G T intron_variant OV-AU 8 131217436 131217436 single base substitution C G intron_variant OV-AU 8 131223286 131223286 single base substitution T G downstream_gene_variant OV-AU 8 131223286 131223286 single base substitution T G intron_variant OV-AU 8 131226803 131226803 deletion of <=200bp A - downstream_gene_variant OV-AU 8 131226803 131226803 deletion of <=200bp A - frameshift_variant L105 OV-AU 8 131226803 131226803 deletion of <=200bp A - frameshift_variant L135 OV-AU 8 131226803 131226803 deletion of <=200bp A - splice_region_variant OV-AU 8 131226968 131226968 single base substitution G C intron_variant OV-AU 8 131226968 131226968 single base substitution G C upstream_gene_variant OV-AU 8 131229987 131229987 single base substitution T A intron_variant OV-AU 8 131229987 131229987 single base substitution T A upstream_gene_variant OV-AU 8 131230311 131230311 single base substitution C G intron_variant OV-AU 8 131230311 131230311 single base substitution C G upstream_gene_variant OV-AU 8 131241684 131241684 single base substitution G A intron_variant OV-AU 8 131247525 131247525 single base substitution T C intron_variant OV-AU 8 131248147 131248147 single base substitution A C intron_variant OV-AU 8 131251394 131251394 single base substitution C A intron_variant OV-AU 8 131251394 131251394 single base substitution C A upstream_gene_variant OV-AU 8 131254524 131254524 single base substitution A C intron_variant OV-AU 8 131263078 131263078 single base substitution G T intron_variant OV-AU 8 131263078 131263078 single base substitution G T upstream_gene_variant OV-AU 8 131267998 131267998 single base substitution C T intron_variant OV-AU 8 131269377 131269377 single base substitution C A intron_variant OV-AU 8 131269938 131269938 single base substitution A T intron_variant OV-AU 8 131271182 131271182 single base substitution A T intron_variant OV-AU 8 131272484 131272484 single base substitution G C intron_variant OV-AU 8 131274967 131274967 single base substitution C T intron_variant OV-AU 8 131285163 131285163 single base substitution T A intron_variant OV-AU 8 131287644 131287644 single base substitution T C intron_variant OV-AU 8 131288790 131288790 single base substitution T C intron_variant OV-AU 8 131292095 131292095 single base substitution C A intron_variant OV-AU 8 131293870 131293870 single base substitution T G intron_variant OV-AU 8 131294183 131294183 single base substitution G A intron_variant OV-AU 8 131294758 131294758 single base substitution G T intron_variant OV-AU 8 131298651 131298651 single base substitution C T intron_variant OV-AU 8 131300394 131300394 single base substitution C A intron_variant OV-AU 8 131301029 131301029 single base substitution A G intron_variant OV-AU 8 131303246 131303246 single base substitution T C intron_variant OV-AU 8 131305662 131305662 single base substitution C T intron_variant OV-AU 8 131307419 131307419 single base substitution C A intron_variant OV-AU 8 131309704 131309704 single base substitution C A intron_variant OV-AU 8 131315853 131315853 single base substitution C A intron_variant OV-AU 8 131321716 131321716 single base substitution G A intron_variant OV-AU 8 131324970 131324970 single base substitution T C intron_variant OV-AU 8 131330417 131330417 single base substitution G C intron_variant OV-AU 8 131331230 131331230 single base substitution T C intron_variant OV-AU 8 131337709 131337709 single base substitution A G intron_variant OV-AU 8 131338182 131338182 single base substitution A T intron_variant OV-AU 8 131338829 131338829 single base substitution A G intron_variant OV-AU 8 131342245 131342245 single base substitution C A intron_variant OV-AU 8 131342688 131342688 single base substitution G A intron_variant OV-AU 8 131345842 131345842 single base substitution C T intron_variant OV-AU 8 131350954 131350954 single base substitution G A intron_variant OV-AU 8 131351337 131351337 single base substitution T C intron_variant OV-AU 8 131357512 131357512 single base substitution G C intron_variant OV-AU 8 131357512 131357512 single base substitution G C upstream_gene_variant OV-AU 8 131361604 131361604 single base substitution C A intron_variant OV-AU 8 131364644 131364644 single base substitution C T intron_variant OV-AU 8 131364756 131364756 single base substitution G C intron_variant OV-AU 8 131368890 131368890 single base substitution T C downstream_gene_variant OV-AU 8 131368890 131368890 single base substitution T C intron_variant OV-AU 8 131373049 131373049 single base substitution T G exon_variant OV-AU 8 131373049 131373049 single base substitution T G intron_variant OV-AU 8 131373253 131373253 single base substitution A T exon_variant OV-AU 8 131373253 131373253 single base substitution A T intron_variant OV-AU 8 131374407 131374407 single base substitution G T intron_variant OV-AU 8 131374852 131374852 single base substitution A T intron_variant OV-AU 8 131375557 131375557 single base substitution A G intron_variant OV-AU 8 131376873 131376873 single base substitution C A intron_variant OV-AU 8 131382780 131382780 single base substitution T G intron_variant OV-AU 8 131389967 131389967 single base substitution G T intron_variant OV-AU 8 131398803 131398803 single base substitution C T intron_variant OV-AU 8 131402237 131402237 single base substitution C T intron_variant OV-AU 8 131402237 131402237 single base substitution C T upstream_gene_variant OV-AU 8 131403912 131403912 single base substitution T C intron_variant OV-AU 8 131403912 131403912 single base substitution T C upstream_gene_variant OV-AU 8 131407750 131407750 single base substitution G T intron_variant OV-AU 8 131413834 131413834 single base substitution C G intron_variant OV-AU 8 131419601 131419601 single base substitution C A intron_variant OV-AU 8 131425448 131425448 single base substitution G T intron_variant OV-AU 8 131428227 131428227 single base substitution G C intron_variant OV-AU 8 131430956 131430956 single base substitution A T intron_variant OV-AU 8 131433413 131433413 single base substitution G T intron_variant OV-AU 8 131435452 131435452 single base substitution C T intron_variant OV-AU 8 131437531 131437531 single base substitution T C intron_variant OV-AU 8 131437593 131437593 single base substitution A G intron_variant OV-AU 8 131445569 131445569 single base substitution C T intron_variant OV-AU 8 131445690 131445690 single base substitution C G intron_variant OV-AU 8 131447280 131447280 single base substitution C T intron_variant OV-AU 8 131447597 131447597 single base substitution T C intron_variant OV-AU 8 131448800 131448800 single base substitution A C intron_variant OV-AU 8 131451749 131451749 single base substitution T G intron_variant OV-AU 8 131452290 131452290 single base substitution C A intron_variant OV-AU 8 131452800 131452800 single base substitution C G intron_variant OV-US 8 131073023 131073023 single base substitution C G 3_prime_UTR_variant OV-US 8 131073023 131073023 single base substitution C G synonymous_variant L354L 1062G>C OV-US 8 131073023 131073023 single base substitution C G synonymous_variant L818L 2454G>C OV-US 8 131073023 131073023 single base substitution C G synonymous_variant L998L 2994G>C OV-US 8 131124344 131124344 single base substitution C G 3_prime_UTR_variant OV-US 8 131124344 131124344 single base substitution C G downstream_gene_variant OV-US 8 131124344 131124344 single base substitution C G exon_variant OV-US 8 131124344 131124344 single base substitution C G synonymous_variant G212G 636G>C OV-US 8 131124344 131124344 single base substitution C G synonymous_variant G619G 1857G>C OV-US 8 131124344 131124344 single base substitution C G synonymous_variant G799G 2397G>C OV-US 8 131181276 131181276 single base substitution T A 3_prime_UTR_variant OV-US 8 131181276 131181276 single base substitution T A stop_gained K232* 694A>T OV-US 8 131181276 131181276 single base substitution T A stop_gained K262* 784A>T OV-US 8 131181276 131181276 single base substitution T A stop_gained K79* 235A>T PACA-AU 8 131061960 131061960 single base substitution G A downstream_gene_variant PACA-AU 8 131063732 131063732 single base substitution C T downstream_gene_variant PACA-AU 8 131069676 131069676 single base substitution C T intron_variant PACA-AU 8 131071938 131071938 single base substitution T G intron_variant PACA-AU 8 131072015 131072015 single base substitution G A intron_variant PACA-AU 8 131073383 131073384 deletion of <=200bp AG - intron_variant PACA-AU 8 131078624 131078624 single base substitution A G intron_variant PACA-AU 8 131084235 131084235 single base substitution G A downstream_gene_variant PACA-AU 8 131084235 131084235 single base substitution G A intron_variant PACA-AU 8 131087785 131087785 single base substitution C T downstream_gene_variant PACA-AU 8 131087785 131087785 single base substitution C T intron_variant PACA-AU 8 131088963 131088963 single base substitution C T intron_variant PACA-AU 8 131089534 131089534 single base substitution T A intron_variant PACA-AU 8 131093495 131093495 single base substitution G A intron_variant PACA-AU 8 131116469 131116469 single base substitution A T intron_variant PACA-AU 8 131131035 131131035 single base substitution C T intron_variant PACA-AU 8 131131035 131131035 single base substitution C T upstream_gene_variant PACA-AU 8 131140865 131140865 deletion of <=200bp A - intron_variant PACA-AU 8 131143506 131143506 single base substitution A G intron_variant PACA-AU 8 131150206 131150206 single base substitution G A intron_variant PACA-AU 8 131152617 131152617 single base substitution A T intron_variant PACA-AU 8 131155448 131155448 single base substitution C G intron_variant PACA-AU 8 131158605 131158605 single base substitution G A intron_variant PACA-AU 8 131161126 131161126 single base substitution G A downstream_gene_variant PACA-AU 8 131161126 131161126 single base substitution G A intron_variant PACA-AU 8 131166555 131166555 single base substitution G C intron_variant PACA-AU 8 131177150 131177150 single base substitution A T intron_variant PACA-AU 8 131177150 131177150 single base substitution A T upstream_gene_variant PACA-AU 8 131180544 131180544 deletion of <=200bp A - intron_variant PACA-AU 8 131181350 131181350 single base substitution A T intron_variant PACA-AU 8 131186253 131186253 single base substitution G C intron_variant PACA-AU 8 131192957 131192957 single base substitution G C downstream_gene_variant PACA-AU 8 131192957 131192957 single base substitution G C intron_variant PACA-AU 8 131195762 131195762 deletion of <=200bp T - intron_variant PACA-AU 8 131195762 131195762 deletion of <=200bp T - upstream_gene_variant PACA-AU 8 131196979 131196979 single base substitution T C intron_variant PACA-AU 8 131196979 131196979 single base substitution T C upstream_gene_variant PACA-AU 8 131199582 131199582 single base substitution T A intron_variant PACA-AU 8 131200616 131200616 single base substitution C T intron_variant PACA-AU 8 131203245 131203245 single base substitution C A downstream_gene_variant PACA-AU 8 131203245 131203245 single base substitution C A intron_variant PACA-AU 8 131205407 131205407 single base substitution G A downstream_gene_variant PACA-AU 8 131205407 131205407 single base substitution G A intron_variant PACA-AU 8 131206187 131206187 single base substitution C G downstream_gene_variant PACA-AU 8 131206187 131206187 single base substitution C G intron_variant PACA-AU 8 131210583 131210583 single base substitution A G intron_variant PACA-AU 8 131212220 131212220 single base substitution A G intron_variant PACA-AU 8 131214223 131214223 single base substitution G A intron_variant PACA-AU 8 131223145 131223145 insertion of <=200bp - T downstream_gene_variant PACA-AU 8 131223145 131223145 insertion of <=200bp - T intron_variant PACA-AU 8 131239241 131239241 single base substitution G T intron_variant PACA-AU 8 131242312 131242312 insertion of <=200bp - AAAC intron_variant PACA-AU 8 131248379 131248379 single base substitution C T intron_variant PACA-AU 8 131257220 131257220 single base substitution T A intron_variant PACA-AU 8 131261745 131261745 single base substitution C T intron_variant PACA-AU 8 131261745 131261745 single base substitution C T upstream_gene_variant PACA-AU 8 131264688 131264688 single base substitution C G intron_variant PACA-AU 8 131265673 131265673 single base substitution C T intron_variant PACA-AU 8 131271630 131271630 single base substitution G A intron_variant PACA-AU 8 131279428 131279428 single base substitution C T intron_variant PACA-AU 8 131280578 131280578 single base substitution A T intron_variant PACA-AU 8 131289422 131289422 single base substitution C T intron_variant PACA-AU 8 131289589 131289589 single base substitution T G intron_variant PACA-AU 8 131292496 131292496 single base substitution T C intron_variant PACA-AU 8 131297231 131297231 single base substitution T G intron_variant PACA-AU 8 131307279 131307279 single base substitution G C intron_variant PACA-AU 8 131308657 131308657 single base substitution C A intron_variant PACA-AU 8 131309175 131309175 single base substitution C A intron_variant PACA-AU 8 131309489 131309489 single base substitution C T intron_variant PACA-AU 8 131309970 131309970 deletion of <=200bp G - intron_variant PACA-AU 8 131310841 131310841 single base substitution C A intron_variant PACA-AU 8 131314272 131314272 single base substitution A G intron_variant PACA-AU 8 131316185 131316185 insertion of <=200bp - G intron_variant PACA-AU 8 131318688 131318688 single base substitution T G intron_variant PACA-AU 8 131319698 131319698 single base substitution T C intron_variant PACA-AU 8 131320378 131320378 single base substitution A T intron_variant PACA-AU 8 131321708 131321708 single base substitution G C intron_variant PACA-AU 8 131327309 131327309 single base substitution A G intron_variant PACA-AU 8 131331023 131331023 deletion of <=200bp A - intron_variant PACA-AU 8 131332465 131332465 single base substitution C T intron_variant PACA-AU 8 131333048 131333048 single base substitution G T intron_variant PACA-AU 8 131333422 131333422 single base substitution A C intron_variant PACA-AU 8 131336521 131336521 single base substitution T A intron_variant PACA-AU 8 131336522 131336522 single base substitution C T intron_variant PACA-AU 8 131337798 131337798 single base substitution T A intron_variant PACA-AU 8 131340270 131340270 insertion of <=200bp - T intron_variant PACA-AU 8 131340521 131340521 single base substitution C G intron_variant PACA-AU 8 131346208 131346208 single base substitution G A intron_variant PACA-AU 8 131346871 131346871 single base substitution A G intron_variant PACA-AU 8 131351037 131351037 single base substitution T G intron_variant PACA-AU 8 131352165 131352167 deletion of <=200bp CTT - intron_variant PACA-AU 8 131354340 131354340 single base substitution A C intron_variant PACA-AU 8 131354340 131354340 single base substitution A C upstream_gene_variant PACA-AU 8 131355313 131355313 single base substitution G A intron_variant PACA-AU 8 131355313 131355313 single base substitution G A upstream_gene_variant PACA-AU 8 131358269 131358269 single base substitution G C intron_variant PACA-AU 8 131359984 131359984 single base substitution C A intron_variant PACA-AU 8 131360135 131360135 single base substitution A C intron_variant PACA-AU 8 131366279 131366279 single base substitution G A intron_variant PACA-AU 8 131368335 131368335 single base substitution T A downstream_gene_variant PACA-AU 8 131368335 131368335 single base substitution T A intron_variant PACA-AU 8 131369696 131369696 single base substitution G A downstream_gene_variant PACA-AU 8 131369696 131369696 single base substitution G A intron_variant PACA-AU 8 131371158 131371158 single base substitution G A downstream_gene_variant PACA-AU 8 131371158 131371158 single base substitution G A intron_variant PACA-AU 8 131371802 131371802 single base substitution C T downstream_gene_variant PACA-AU 8 131371802 131371802 single base substitution C T intron_variant PACA-AU 8 131376286 131376286 single base substitution G A intron_variant PACA-AU 8 131376863 131376863 single base substitution G A intron_variant PACA-AU 8 131378254 131378254 deletion of <=200bp T - intron_variant PACA-AU 8 131379201 131379201 single base substitution A G intron_variant PACA-AU 8 131379263 131379263 single base substitution G A intron_variant PACA-AU 8 131381757 131381757 single base substitution T C intron_variant PACA-AU 8 131385105 131385105 single base substitution T A intron_variant PACA-AU 8 131385126 131385126 single base substitution A G intron_variant PACA-AU 8 131385389 131385389 single base substitution C G intron_variant PACA-AU 8 131386219 131386219 single base substitution G C intron_variant PACA-AU 8 131387356 131387356 single base substitution T G intron_variant PACA-AU 8 131394573 131394573 single base substitution C G intron_variant PACA-AU 8 131396849 131396849 single base substitution C T intron_variant PACA-AU 8 131399498 131399498 single base substitution T G intron_variant PACA-AU 8 131399498 131399498 single base substitution T G upstream_gene_variant PACA-AU 8 131402051 131402051 single base substitution A G intron_variant PACA-AU 8 131402051 131402051 single base substitution A G upstream_gene_variant PACA-AU 8 131407532 131407532 single base substitution C T intron_variant PACA-AU 8 131415547 131415547 single base substitution T A intron_variant PACA-AU 8 131415547 131415547 single base substitution T A upstream_gene_variant PACA-AU 8 131418895 131418895 insertion of <=200bp - T intron_variant PACA-AU 8 131418895 131418895 insertion of <=200bp - T upstream_gene_variant PACA-AU 8 131420966 131420966 single base substitution C A intron_variant PACA-AU 8 131429447 131429447 single base substitution C T intron_variant PACA-AU 8 131430516 131430542 deletion of <=200bp CCCGGCACGGTCGCACACACCTGTAAT - intron_variant PACA-AU 8 131438887 131438887 single base substitution T A intron_variant PACA-AU 8 131440313 131440313 single base substitution C A intron_variant PACA-AU 8 131440313 131440313 single base substitution C A upstream_gene_variant PACA-AU 8 131442206 131442206 single base substitution G A intron_variant PACA-AU 8 131442206 131442206 single base substitution G A upstream_gene_variant PACA-AU 8 131445197 131445197 single base substitution T A intron_variant PACA-AU 8 131448970 131448970 single base substitution C T intron_variant PACA-AU 8 131450296 131450296 single base substitution T G intron_variant PACA-AU 8 131451984 131451984 single base substitution G A intron_variant PACA-AU 8 131457892 131457892 single base substitution A G upstream_gene_variant PACA-AU 8 131459655 131459655 single base substitution G A upstream_gene_variant PACA-AU 8 131460358 131460360 deletion of <=200bp AGG - upstream_gene_variant PACA-CA 8 131059674 131059674 single base substitution G A downstream_gene_variant PACA-CA 8 131060600 131060600 single base substitution A G downstream_gene_variant PACA-CA 8 131065093 131065093 single base substitution C T 3_prime_UTR_variant PACA-CA 8 131065093 131065093 single base substitution C T downstream_gene_variant PACA-CA 8 131066853 131066853 single base substitution T G 3_prime_UTR_variant PACA-CA 8 131066853 131066853 single base substitution T G downstream_gene_variant PACA-CA 8 131068466 131068466 single base substitution C A intron_variant PACA-CA 8 131068467 131068467 single base substitution C A intron_variant PACA-CA 8 131069269 131069269 single base substitution C T intron_variant PACA-CA 8 131071102 131071102 single base substitution C T intron_variant PACA-CA 8 131071550 131071550 single base substitution C T intron_variant PACA-CA 8 131072153 131072153 single base substitution A G intron_variant PACA-CA 8 131072189 131072189 single base substitution G C intron_variant PACA-CA 8 131078087 131078087 single base substitution T A intron_variant PACA-CA 8 131078093 131078093 single base substitution T G intron_variant PACA-CA 8 131079392 131079392 single base substitution T A intron_variant PACA-CA 8 131082578 131082578 single base substitution C T intron_variant PACA-CA 8 131084037 131084037 single base substitution G A downstream_gene_variant PACA-CA 8 131084037 131084037 single base substitution G A intron_variant PACA-CA 8 131088481 131088481 single base substitution C G downstream_gene_variant PACA-CA 8 131088481 131088481 single base substitution C G intron_variant PACA-CA 8 131088883 131088883 single base substitution C T intron_variant PACA-CA 8 131096766 131096766 single base substitution C T intron_variant PACA-CA 8 131099930 131099930 single base substitution C G intron_variant PACA-CA 8 131100685 131100685 single base substitution C T intron_variant PACA-CA 8 131110699 131110699 single base substitution C A intron_variant PACA-CA 8 131111718 131111718 single base substitution G A intron_variant PACA-CA 8 131115650 131115650 single base substitution C G intron_variant PACA-CA 8 131118818 131118818 single base substitution C T intron_variant PACA-CA 8 131122931 131122931 single base substitution C T downstream_gene_variant PACA-CA 8 131122931 131122931 single base substitution C T intron_variant PACA-CA 8 131123071 131123071 single base substitution C A downstream_gene_variant PACA-CA 8 131123071 131123071 single base substitution C A intron_variant PACA-CA 8 131124233 131124233 single base substitution A G downstream_gene_variant PACA-CA 8 131124233 131124233 single base substitution A G intron_variant PACA-CA 8 131124378 131124378 single base substitution G A 3_prime_UTR_variant PACA-CA 8 131124378 131124378 single base substitution G A downstream_gene_variant PACA-CA 8 131124378 131124378 single base substitution G A exon_variant PACA-CA 8 131124378 131124378 single base substitution G A missense_variant T201M 602C>T PACA-CA 8 131124378 131124378 single base substitution G A missense_variant T608M 1823C>T PACA-CA 8 131124378 131124378 single base substitution G A missense_variant T788M 2363C>T PACA-CA 8 131127647 131127647 deletion of <=200bp A - downstream_gene_variant PACA-CA 8 131127647 131127647 deletion of <=200bp A - intron_variant PACA-CA 8 131127647 131127647 deletion of <=200bp A - upstream_gene_variant PACA-CA 8 131132652 131132652 single base substitution A T intron_variant PACA-CA 8 131132652 131132652 single base substitution A T upstream_gene_variant PACA-CA 8 131139295 131139295 single base substitution G A intron_variant PACA-CA 8 131139467 131139467 insertion of <=200bp - T intron_variant PACA-CA 8 131139619 131139619 single base substitution C T intron_variant PACA-CA 8 131143275 131143275 single base substitution C T intron_variant PACA-CA 8 131143473 131143473 single base substitution C G intron_variant PACA-CA 8 131143658 131143658 single base substitution G A intron_variant PACA-CA 8 131146735 131146735 single base substitution C T intron_variant PACA-CA 8 131149793 131149793 single base substitution C T intron_variant PACA-CA 8 131151688 131151688 single base substitution C T intron_variant PACA-CA 8 131156485 131156485 single base substitution T C intron_variant PACA-CA 8 131160381 131160381 single base substitution A T downstream_gene_variant PACA-CA 8 131160381 131160381 single base substitution A T intron_variant PACA-CA 8 131169065 131169065 single base substitution T C intron_variant PACA-CA 8 131173985 131173985 single base substitution T C intron_variant PACA-CA 8 131173985 131173985 single base substitution T C upstream_gene_variant PACA-CA 8 131180993 131180993 single base substitution G A intron_variant PACA-CA 8 131184722 131184722 single base substitution A T intron_variant PACA-CA 8 131187692 131187692 single base substitution G A downstream_gene_variant PACA-CA 8 131187692 131187692 single base substitution G A intron_variant PACA-CA 8 131191343 131191343 single base substitution C A downstream_gene_variant PACA-CA 8 131191343 131191343 single base substitution C A intron_variant PACA-CA 8 131191345 131191345 single base substitution C T downstream_gene_variant PACA-CA 8 131191345 131191345 single base substitution C T intron_variant PACA-CA 8 131196543 131196543 single base substitution T G intron_variant PACA-CA 8 131196543 131196543 single base substitution T G upstream_gene_variant PACA-CA 8 131199425 131199425 single base substitution C G intron_variant PACA-CA 8 131199682 131199682 single base substitution G T intron_variant PACA-CA 8 131200803 131200803 single base substitution G A intron_variant PACA-CA 8 131201119 131201119 single base substitution C G intron_variant PACA-CA 8 131202071 131202071 deletion of <=200bp T - intron_variant PACA-CA 8 131203222 131203222 single base substitution G A downstream_gene_variant PACA-CA 8 131203222 131203222 single base substitution G A intron_variant PACA-CA 8 131203223 131203223 single base substitution C T downstream_gene_variant PACA-CA 8 131203223 131203223 single base substitution C T intron_variant PACA-CA 8 131205212 131205212 insertion of <=200bp - A downstream_gene_variant PACA-CA 8 131205212 131205212 insertion of <=200bp - A intron_variant PACA-CA 8 131205341 131205341 single base substitution G A downstream_gene_variant PACA-CA 8 131205341 131205341 single base substitution G A intron_variant PACA-CA 8 131205641 131205641 insertion of <=200bp - A downstream_gene_variant PACA-CA 8 131205641 131205641 insertion of <=200bp - A intron_variant PACA-CA 8 131207347 131207347 single base substitution C G downstream_gene_variant PACA-CA 8 131207347 131207347 single base substitution C G intron_variant PACA-CA 8 131209339 131209339 single base substitution T A intron_variant PACA-CA 8 131219765 131219765 single base substitution C T intron_variant PACA-CA 8 131219921 131219921 single base substitution C T intron_variant PACA-CA 8 131220470 131220470 single base substitution A T intron_variant PACA-CA 8 131220632 131220632 single base substitution A G intron_variant PACA-CA 8 131223489 131223489 single base substitution G T downstream_gene_variant PACA-CA 8 131223489 131223489 single base substitution G T intron_variant PACA-CA 8 131223545 131223545 single base substitution G A downstream_gene_variant PACA-CA 8 131223545 131223545 single base substitution G A intron_variant PACA-CA 8 131224281 131224281 single base substitution T A downstream_gene_variant PACA-CA 8 131224281 131224281 single base substitution T A intron_variant PACA-CA 8 131225229 131225229 single base substitution G C downstream_gene_variant PACA-CA 8 131225229 131225229 single base substitution G C intron_variant PACA-CA 8 131226850 131226850 single base substitution G A 3_prime_UTR_variant PACA-CA 8 131226850 131226850 single base substitution G A 5_prime_UTR_variant PACA-CA 8 131226850 131226850 single base substitution G A downstream_gene_variant PACA-CA 8 131226850 131226850 single base substitution G A exon_variant PACA-CA 8 131226850 131226850 single base substitution G A synonymous_variant V119V 357C>T PACA-CA 8 131226850 131226850 single base substitution G A synonymous_variant V89V 267C>T PACA-CA 8 131226851 131226851 single base substitution A C 3_prime_UTR_variant PACA-CA 8 131226851 131226851 single base substitution A C 5_prime_UTR_variant PACA-CA 8 131226851 131226851 single base substitution A C downstream_gene_variant PACA-CA 8 131226851 131226851 single base substitution A C exon_variant PACA-CA 8 131226851 131226851 single base substitution A C missense_variant V119G 356T>G PACA-CA 8 131226851 131226851 single base substitution A C missense_variant V89G 266T>G PACA-CA 8 131228009 131228009 insertion of <=200bp - A intron_variant PACA-CA 8 131228009 131228009 insertion of <=200bp - A upstream_gene_variant PACA-CA 8 131233105 131233105 single base substitution G A intron_variant PACA-CA 8 131233619 131233619 single base substitution A C intron_variant PACA-CA 8 131234027 131234027 single base substitution G A intron_variant PACA-CA 8 131235957 131235957 single base substitution A T intron_variant PACA-CA 8 131240061 131240061 single base substitution G A intron_variant PACA-CA 8 131242868 131242868 single base substitution C T intron_variant PACA-CA 8 131252516 131252516 single base substitution G C intron_variant PACA-CA 8 131252516 131252516 single base substitution G C upstream_gene_variant PACA-CA 8 131253013 131253013 single base substitution G T intron_variant PACA-CA 8 131253013 131253013 single base substitution G T upstream_gene_variant PACA-CA 8 131259652 131259652 single base substitution G A intron_variant PACA-CA 8 131259652 131259652 single base substitution G A upstream_gene_variant PACA-CA 8 131259653 131259653 single base substitution C A intron_variant PACA-CA 8 131259653 131259653 single base substitution C A upstream_gene_variant PACA-CA 8 131260158 131260158 single base substitution C T intron_variant PACA-CA 8 131260158 131260158 single base substitution C T upstream_gene_variant PACA-CA 8 131261676 131261676 single base substitution A T intron_variant PACA-CA 8 131261676 131261676 single base substitution A T upstream_gene_variant PACA-CA 8 131263080 131263080 single base substitution T A intron_variant PACA-CA 8 131263080 131263080 single base substitution T A upstream_gene_variant PACA-CA 8 131265799 131265799 single base substitution T G intron_variant PACA-CA 8 131269583 131269583 single base substitution G T intron_variant PACA-CA 8 131272071 131272071 single base substitution G C intron_variant PACA-CA 8 131272230 131272230 single base substitution T A intron_variant PACA-CA 8 131272544 131272544 single base substitution G T intron_variant PACA-CA 8 131273163 131273163 single base substitution T C intron_variant PACA-CA 8 131276840 131276840 single base substitution C G intron_variant PACA-CA 8 131278745 131278745 single base substitution G A intron_variant PACA-CA 8 131278772 131278772 single base substitution C A intron_variant PACA-CA 8 131279373 131279373 single base substitution A C intron_variant PACA-CA 8 131281211 131281211 single base substitution G T intron_variant PACA-CA 8 131284409 131284409 insertion of <=200bp - A intron_variant PACA-CA 8 131284694 131284707 deletion of <=200bp ACTAAAATAGATTC - intron_variant PACA-CA 8 131285100 131285101 deletion of <=200bp GA - intron_variant PACA-CA 8 131286340 131286340 single base substitution A T intron_variant PACA-CA 8 131288974 131288974 single base substitution A T intron_variant PACA-CA 8 131295691 131295691 single base substitution G T intron_variant PACA-CA 8 131298351 131298351 single base substitution T A intron_variant PACA-CA 8 131298824 131298824 single base substitution C G intron_variant PACA-CA 8 131299060 131299060 single base substitution T A intron_variant PACA-CA 8 131300214 131300214 single base substitution C G intron_variant PACA-CA 8 131300228 131300228 single base substitution G A intron_variant PACA-CA 8 131300548 131300548 single base substitution C T intron_variant PACA-CA 8 131302098 131302098 single base substitution A G intron_variant PACA-CA 8 131305928 131305928 single base substitution C G intron_variant PACA-CA 8 131307782 131307782 single base substitution A T intron_variant PACA-CA 8 131308587 131308587 single base substitution C T intron_variant PACA-CA 8 131312401 131312401 single base substitution G C intron_variant PACA-CA 8 131312403 131312403 single base substitution G C intron_variant PACA-CA 8 131314769 131314769 single base substitution G C intron_variant PACA-CA 8 131317391 131317391 single base substitution T C intron_variant PACA-CA 8 131319006 131319006 single base substitution C A intron_variant PACA-CA 8 131322407 131322407 single base substitution G A intron_variant PACA-CA 8 131322688 131322688 single base substitution A G intron_variant PACA-CA 8 131325103 131325104 deletion of <=200bp TG - intron_variant PACA-CA 8 131327146 131327146 single base substitution T C intron_variant PACA-CA 8 131329958 131329958 single base substitution C T intron_variant PACA-CA 8 131330598 131330598 single base substitution G A intron_variant PACA-CA 8 131332096 131332096 deletion of <=200bp A - intron_variant PACA-CA 8 131335093 131335093 single base substitution G C intron_variant PACA-CA 8 131335613 131335613 single base substitution A C intron_variant PACA-CA 8 131336326 131336326 single base substitution C T intron_variant PACA-CA 8 131342431 131342431 single base substitution T C intron_variant PACA-CA 8 131343329 131343329 single base substitution G A intron_variant PACA-CA 8 131345174 131345174 single base substitution A T intron_variant PACA-CA 8 131347463 131347463 single base substitution T A intron_variant PACA-CA 8 131350967 131350967 single base substitution C T intron_variant PACA-CA 8 131356732 131356732 insertion of <=200bp - A intron_variant PACA-CA 8 131356732 131356732 insertion of <=200bp - A upstream_gene_variant PACA-CA 8 131357579 131357579 single base substitution C T intron_variant PACA-CA 8 131357579 131357579 single base substitution C T upstream_gene_variant PACA-CA 8 131358080 131358080 single base substitution G A intron_variant PACA-CA 8 131358080 131358080 single base substitution G A upstream_gene_variant PACA-CA 8 131364198 131364198 single base substitution C G intron_variant PACA-CA 8 131365669 131365669 single base substitution C G intron_variant PACA-CA 8 131366911 131366911 single base substitution C T intron_variant PACA-CA 8 131367186 131367186 single base substitution C T intron_variant PACA-CA 8 131367683 131367683 single base substitution T G intron_variant PACA-CA 8 131369446 131369446 deletion of <=200bp C - downstream_gene_variant PACA-CA 8 131369446 131369446 deletion of <=200bp C - intron_variant PACA-CA 8 131375181 131375181 single base substitution G A intron_variant PACA-CA 8 131379752 131379752 single base substitution G T intron_variant PACA-CA 8 131381363 131381363 single base substitution G A intron_variant PACA-CA 8 131383260 131383260 single base substitution A G intron_variant PACA-CA 8 131385229 131385229 single base substitution C T intron_variant PACA-CA 8 131386206 131386206 single base substitution T A intron_variant PACA-CA 8 131389278 131389278 single base substitution G T intron_variant PACA-CA 8 131389382 131389382 single base substitution A T intron_variant PACA-CA 8 131391745 131391745 single base substitution C T intron_variant PACA-CA 8 131393336 131393336 single base substitution C T intron_variant PACA-CA 8 131394350 131394350 single base substitution G T intron_variant PACA-CA 8 131395740 131395740 single base substitution C A intron_variant PACA-CA 8 131398524 131398524 single base substitution G A intron_variant PACA-CA 8 131398796 131398796 single base substitution C T intron_variant PACA-CA 8 131399212 131399212 single base substitution G C intron_variant PACA-CA 8 131399212 131399212 single base substitution G C upstream_gene_variant PACA-CA 8 131404256 131404256 single base substitution G A intron_variant PACA-CA 8 131404611 131404611 single base substitution G C intron_variant PACA-CA 8 131404835 131404835 single base substitution G A intron_variant PACA-CA 8 131411538 131411538 single base substitution A G intron_variant PACA-CA 8 131412387 131412387 single base substitution G T intron_variant PACA-CA 8 131412962 131412962 single base substitution G A intron_variant PACA-CA 8 131413149 131413149 single base substitution G A intron_variant PACA-CA 8 131415398 131415398 single base substitution T C intron_variant PACA-CA 8 131415398 131415398 single base substitution T C upstream_gene_variant PACA-CA 8 131419272 131419272 single base substitution A C intron_variant PACA-CA 8 131421394 131421394 single base substitution G A intron_variant PACA-CA 8 131425233 131425233 single base substitution T C intron_variant PACA-CA 8 131429431 131429431 single base substitution C T intron_variant PACA-CA 8 131431529 131431529 single base substitution G A intron_variant PACA-CA 8 131432195 131432195 single base substitution C G intron_variant PACA-CA 8 131433053 131433053 single base substitution C A intron_variant PACA-CA 8 131434028 131434028 single base substitution T A intron_variant PACA-CA 8 131434885 131434885 single base substitution G A intron_variant PACA-CA 8 131435212 131435212 single base substitution A G intron_variant PACA-CA 8 131435936 131435936 single base substitution C T intron_variant PACA-CA 8 131437021 131437021 single base substitution C T intron_variant PACA-CA 8 131438278 131438278 single base substitution A G intron_variant PACA-CA 8 131440572 131440572 single base substitution G A intron_variant PACA-CA 8 131440572 131440572 single base substitution G A upstream_gene_variant PACA-CA 8 131441064 131441064 single base substitution C A intron_variant PACA-CA 8 131441064 131441064 single base substitution C A upstream_gene_variant PACA-CA 8 131442734 131442734 single base substitution G A intron_variant PACA-CA 8 131442734 131442734 single base substitution G A upstream_gene_variant PACA-CA 8 131446630 131446630 single base substitution A C intron_variant PACA-CA 8 131447427 131447427 single base substitution G T intron_variant PACA-CA 8 131450553 131450553 single base substitution C T intron_variant PACA-CA 8 131451984 131451984 single base substitution G A intron_variant PACA-CA 8 131452529 131452529 single base substitution G A intron_variant PACA-CA 8 131452901 131452901 single base substitution C T intron_variant PACA-CA 8 131454432 131454432 single base substitution T C intron_variant PACA-CA 8 131455026 131455026 single base substitution A G intron_variant PACA-CA 8 131456563 131456563 single base substitution G A upstream_gene_variant PACA-CA 8 131457763 131457763 single base substitution G C upstream_gene_variant PAEN-AU 8 131070536 131070536 single base substitution G A intron_variant PAEN-AU 8 131132003 131132003 single base substitution C T intron_variant PAEN-AU 8 131132003 131132003 single base substitution C T upstream_gene_variant PAEN-AU 8 131246669 131246669 single base substitution A C intron_variant PAEN-AU 8 131321981 131321981 single base substitution A G intron_variant PAEN-AU 8 131327561 131327561 single base substitution G A intron_variant PAEN-AU 8 131367541 131367541 single base substitution A C intron_variant PAEN-AU 8 131368983 131368983 single base substitution T C downstream_gene_variant PAEN-AU 8 131368983 131368983 single base substitution T C intron_variant PAEN-AU 8 131385833 131385833 single base substitution G A intron_variant PAEN-AU 8 131391732 131391732 single base substitution G T intron_variant PAEN-AU 8 131406821 131406821 single base substitution C T intron_variant PAEN-AU 8 131415547 131415547 single base substitution T A intron_variant PAEN-AU 8 131415547 131415547 single base substitution T A upstream_gene_variant PAEN-IT 8 131184695 131184695 single base substitution A C intron_variant PAEN-IT 8 131223769 131223769 single base substitution A G downstream_gene_variant PAEN-IT 8 131223769 131223769 single base substitution A G intron_variant PAEN-IT 8 131236455 131236455 single base substitution C G intron_variant PAEN-IT 8 131251621 131251621 single base substitution T C intron_variant PAEN-IT 8 131251621 131251621 single base substitution T C upstream_gene_variant PAEN-IT 8 131262219 131262219 single base substitution C A intron_variant PAEN-IT 8 131262219 131262219 single base substitution C A upstream_gene_variant PAEN-IT 8 131361024 131361024 single base substitution G A intron_variant PAEN-IT 8 131431774 131431774 single base substitution C T intron_variant PAEN-IT 8 131444911 131444911 single base substitution G T intron_variant PAEN-IT 8 131444911 131444911 single base substitution G T upstream_gene_variant PBCA-DE 8 131060939 131060939 single base substitution C A downstream_gene_variant PBCA-DE 8 131062512 131062512 single base substitution A C downstream_gene_variant PBCA-DE 8 131082607 131082607 single base substitution T C intron_variant PBCA-DE 8 131084797 131084835 deletion of <=200bp CAGGTATGTCTTTATCAGCAGCGTGAAAACGGACTAATA - downstream_gene_variant PBCA-DE 8 131084797 131084835 deletion of <=200bp CAGGTATGTCTTTATCAGCAGCGTGAAAACGGACTAATA - intron_variant PBCA-DE 8 131097043 131097043 insertion of <=200bp - A intron_variant PBCA-DE 8 131111334 131111334 single base substitution G T intron_variant PBCA-DE 8 131131710 131131710 single base substitution G A intron_variant PBCA-DE 8 131131710 131131710 single base substitution G A upstream_gene_variant PBCA-DE 8 131153242 131153242 single base substitution T A intron_variant PBCA-DE 8 131153543 131153543 single base substitution G A intron_variant PBCA-DE 8 131156409 131156409 single base substitution C T intron_variant PBCA-DE 8 131157724 131157724 single base substitution C T intron_variant PBCA-DE 8 131159342 131159342 single base substitution G A intron_variant PBCA-DE 8 131166436 131166436 single base substitution G T intron_variant PBCA-DE 8 131172355 131172355 single base substitution T A intron_variant PBCA-DE 8 131172355 131172355 single base substitution T A upstream_gene_variant PBCA-DE 8 131173730 131173730 single base substitution A C intron_variant PBCA-DE 8 131173730 131173730 single base substitution A C upstream_gene_variant PBCA-DE 8 131187843 131187843 single base substitution C A downstream_gene_variant PBCA-DE 8 131187843 131187843 single base substitution C A intron_variant PBCA-DE 8 131198491 131198491 single base substitution A G intron_variant PBCA-DE 8 131199159 131199159 single base substitution G T intron_variant PBCA-DE 8 131210554 131210555 deletion of <=200bp AG - intron_variant PBCA-DE 8 131214456 131214456 single base substitution T C intron_variant PBCA-DE 8 131243816 131243816 insertion of <=200bp - A intron_variant PBCA-DE 8 131251538 131251538 single base substitution C A intron_variant PBCA-DE 8 131251538 131251538 single base substitution C A upstream_gene_variant PBCA-DE 8 131267989 131267989 single base substitution T C intron_variant PBCA-DE 8 131282135 131282135 single base substitution G T intron_variant PBCA-DE 8 131299206 131299206 single base substitution C G intron_variant PBCA-DE 8 131318734 131318734 single base substitution T C intron_variant PBCA-DE 8 131322385 131322385 single base substitution G T intron_variant PBCA-DE 8 131330253 131330253 single base substitution C T intron_variant PBCA-DE 8 131336117 131336117 insertion of <=200bp - A intron_variant PBCA-DE 8 131347986 131347986 single base substitution T G intron_variant PBCA-DE 8 131357755 131357755 single base substitution C A intron_variant PBCA-DE 8 131357755 131357755 single base substitution C A upstream_gene_variant PBCA-DE 8 131362163 131362163 single base substitution A G intron_variant PBCA-DE 8 131364672 131364672 single base substitution C T intron_variant PBCA-DE 8 131370696 131370696 single base substitution G A downstream_gene_variant PBCA-DE 8 131370696 131370696 single base substitution G A intron_variant PBCA-DE 8 131382833 131382833 single base substitution A C intron_variant PBCA-DE 8 131400265 131400265 insertion of <=200bp - AATA intron_variant PBCA-DE 8 131400265 131400265 insertion of <=200bp - AATA upstream_gene_variant PBCA-DE 8 131405582 131405582 single base substitution G A intron_variant PBCA-DE 8 131406919 131406919 single base substitution C G intron_variant PBCA-DE 8 131415377 131415377 single base substitution G A intron_variant PBCA-DE 8 131415377 131415377 single base substitution G A upstream_gene_variant PBCA-DE 8 131420226 131420226 single base substitution A C intron_variant PBCA-DE 8 131429423 131429423 insertion of <=200bp - T intron_variant PBCA-DE 8 131435937 131435937 single base substitution G A intron_variant PBCA-DE 8 131437496 131437496 single base substitution T A intron_variant PBCA-DE 8 131457061 131457061 single base substitution G C upstream_gene_variant PBCA-DE 8 131460658 131460658 single base substitution G T upstream_gene_variant PRAD-CA 8 131073655 131073655 single base substitution T C intron_variant PRAD-CA 8 131076886 131076886 single base substitution G A intron_variant PRAD-CA 8 131076951 131076951 single base substitution C G intron_variant PRAD-CA 8 131100783 131100783 single base substitution G A intron_variant PRAD-CA 8 131107520 131107520 single base substitution T A intron_variant PRAD-CA 8 131143027 131143027 single base substitution C T intron_variant PRAD-CA 8 131168439 131168439 single base substitution G A intron_variant PRAD-CA 8 131179842 131179842 single base substitution C G 3_prime_UTR_variant PRAD-CA 8 131179842 131179842 single base substitution C G missense_variant K100N 300G>C PRAD-CA 8 131179842 131179842 single base substitution C G missense_variant K253N 759G>C PRAD-CA 8 131179842 131179842 single base substitution C G missense_variant K283N 849G>C PRAD-CA 8 131181277 131181277 single base substitution C G 3_prime_UTR_variant PRAD-CA 8 131181277 131181277 single base substitution C G missense_variant L231F 693G>C PRAD-CA 8 131181277 131181277 single base substitution C G missense_variant L261F 783G>C PRAD-CA 8 131181277 131181277 single base substitution C G missense_variant L78F 234G>C PRAD-CA 8 131189086 131189086 single base substitution G A downstream_gene_variant PRAD-CA 8 131189086 131189086 single base substitution G A intron_variant PRAD-CA 8 131191615 131191615 single base substitution T G downstream_gene_variant PRAD-CA 8 131191615 131191615 single base substitution T G intron_variant PRAD-CA 8 131245320 131245320 single base substitution T A intron_variant PRAD-CA 8 131245321 131245321 single base substitution C A intron_variant PRAD-CA 8 131252758 131252758 single base substitution A G intron_variant PRAD-CA 8 131252758 131252758 single base substitution A G upstream_gene_variant PRAD-CA 8 131279149 131279149 single base substitution T G intron_variant PRAD-CA 8 131288978 131288978 single base substitution T A intron_variant PRAD-CA 8 131385357 131385357 single base substitution T C intron_variant PRAD-CA 8 131385442 131385442 single base substitution C A intron_variant PRAD-CA 8 131397753 131397753 single base substitution C T intron_variant PRAD-CA 8 131416765 131416765 single base substitution A T intron_variant PRAD-CA 8 131416765 131416765 single base substitution A T upstream_gene_variant PRAD-CA 8 131429431 131429431 single base substitution C T intron_variant PRAD-UK 8 131063040 131063040 single base substitution C G downstream_gene_variant PRAD-UK 8 131078862 131078862 single base substitution T C intron_variant PRAD-UK 8 131080423 131080423 single base substitution A G intron_variant PRAD-UK 8 131081475 131081475 single base substitution G T intron_variant PRAD-UK 8 131106466 131106466 single base substitution A T intron_variant PRAD-UK 8 131115383 131115383 single base substitution C T intron_variant PRAD-UK 8 131128307 131128307 single base substitution G T intron_variant PRAD-UK 8 131128307 131128307 single base substitution G T upstream_gene_variant PRAD-UK 8 131148967 131148967 single base substitution T G intron_variant PRAD-UK 8 131151165 131151165 single base substitution G A intron_variant PRAD-UK 8 131152922 131152922 single base substitution A C intron_variant PRAD-UK 8 131157298 131157298 single base substitution G T intron_variant PRAD-UK 8 131167968 131167968 single base substitution C G intron_variant PRAD-UK 8 131181540 131181540 single base substitution G A intron_variant PRAD-UK 8 131185060 131185060 single base substitution A G intron_variant PRAD-UK 8 131185625 131185625 single base substitution C T intron_variant PRAD-UK 8 131189752 131189752 single base substitution A G downstream_gene_variant PRAD-UK 8 131189752 131189752 single base substitution A G intron_variant PRAD-UK 8 131203086 131203086 single base substitution T C downstream_gene_variant PRAD-UK 8 131203086 131203086 single base substitution T C intron_variant PRAD-UK 8 131223726 131223726 single base substitution T G downstream_gene_variant PRAD-UK 8 131223726 131223726 single base substitution T G intron_variant PRAD-UK 8 131252461 131252461 single base substitution T C intron_variant PRAD-UK 8 131252461 131252461 single base substitution T C upstream_gene_variant PRAD-UK 8 131255690 131255690 single base substitution A T intron_variant PRAD-UK 8 131257752 131257752 single base substitution C A intron_variant PRAD-UK 8 131269321 131269321 single base substitution G C intron_variant PRAD-UK 8 131269976 131269976 single base substitution T C intron_variant PRAD-UK 8 131270707 131270707 single base substitution C T intron_variant PRAD-UK 8 131297569 131297569 deletion of <=200bp G - intron_variant PRAD-UK 8 131300457 131300457 insertion of <=200bp - T intron_variant PRAD-UK 8 131300463 131300463 insertion of <=200bp - T intron_variant PRAD-UK 8 131318395 131318395 single base substitution T C intron_variant PRAD-UK 8 131318683 131318683 insertion of <=200bp - T intron_variant PRAD-UK 8 131340732 131340732 single base substitution G A intron_variant PRAD-UK 8 131345708 131345708 single base substitution G C intron_variant PRAD-UK 8 131377717 131377717 single base substitution G A intron_variant PRAD-UK 8 131381387 131381387 single base substitution C G intron_variant PRAD-UK 8 131387481 131387481 single base substitution C T intron_variant PRAD-UK 8 131409532 131409532 single base substitution G A intron_variant PRAD-UK 8 131409791 131409791 deletion of <=200bp C - intron_variant PRAD-UK 8 131410245 131410252 deletion of <=200bp AATGAATC - intron_variant PRAD-UK 8 131410584 131410584 single base substitution A T intron_variant PRAD-UK 8 131410585 131410585 single base substitution C A intron_variant PRAD-UK 8 131412458 131412458 single base substitution G A intron_variant PRAD-UK 8 131413002 131413002 single base substitution G A intron_variant PRAD-UK 8 131413528 131413528 single base substitution G A intron_variant PRAD-UK 8 131430113 131430113 single base substitution C G intron_variant PRAD-UK 8 131431950 131431950 single base substitution C T intron_variant PRAD-UK 8 131435015 131435015 single base substitution T C intron_variant PRAD-US 8 131073267 131073267 single base substitution G A 3_prime_UTR_variant PRAD-US 8 131073267 131073267 single base substitution G A missense_variant P273L 818C>T PRAD-US 8 131073267 131073267 single base substitution G A missense_variant P737L 2210C>T PRAD-US 8 131073267 131073267 single base substitution G A missense_variant P917L 2750C>T PRAD-US 8 131249205 131249205 single base substitution C G 3_prime_UTR_variant PRAD-US 8 131249205 131249205 single base substitution C G 5_prime_UTR_variant PRAD-US 8 131249205 131249205 single base substitution C G exon_variant PRAD-US 8 131249205 131249205 single base substitution C G synonymous_variant V44V 132G>C PRAD-US 8 131249205 131249205 single base substitution C G synonymous_variant V67V 201G>C PRAD-US 8 131249205 131249205 single base substitution C G synonymous_variant V74V 222G>C READ-US 8 131130784 131130784 single base substitution A C 3_prime_UTR_variant READ-US 8 131130784 131130784 single base substitution A C exon_variant READ-US 8 131130784 131130784 single base substitution A C missense_variant V402G 1205T>G READ-US 8 131130784 131130784 single base substitution A C missense_variant V582G 1745T>G READ-US 8 131130784 131130784 single base substitution A C upstream_gene_variant RECA-EU 8 131082848 131082848 single base substitution T A intron_variant RECA-EU 8 131095642 131095642 single base substitution C A intron_variant RECA-EU 8 131095643 131095643 single base substitution C A intron_variant RECA-EU 8 131100734 131100734 single base substitution C T intron_variant RECA-EU 8 131104142 131104142 single base substitution T A intron_variant RECA-EU 8 131109653 131109653 single base substitution C T intron_variant RECA-EU 8 131116589 131116589 single base substitution C G intron_variant RECA-EU 8 131125570 131125570 single base substitution C T downstream_gene_variant RECA-EU 8 131125570 131125570 single base substitution C T intron_variant RECA-EU 8 131125570 131125570 single base substitution C T upstream_gene_variant RECA-EU 8 131126439 131126439 single base substitution A C downstream_gene_variant RECA-EU 8 131126439 131126439 single base substitution A C intron_variant RECA-EU 8 131126439 131126439 single base substitution A C upstream_gene_variant RECA-EU 8 131127248 131127248 single base substitution G A downstream_gene_variant RECA-EU 8 131127248 131127248 single base substitution G A intron_variant RECA-EU 8 131127248 131127248 single base substitution G A upstream_gene_variant RECA-EU 8 131127249 131127249 single base substitution T G downstream_gene_variant RECA-EU 8 131127249 131127249 single base substitution T G intron_variant RECA-EU 8 131127249 131127249 single base substitution T G upstream_gene_variant RECA-EU 8 131131591 131131591 single base substitution G T intron_variant RECA-EU 8 131131591 131131591 single base substitution G T upstream_gene_variant RECA-EU 8 131134903 131134903 single base substitution G C intron_variant RECA-EU 8 131134903 131134903 single base substitution G C upstream_gene_variant RECA-EU 8 131135845 131135845 single base substitution C A intron_variant RECA-EU 8 131135845 131135845 single base substitution C A upstream_gene_variant RECA-EU 8 131144025 131144025 single base substitution C G intron_variant RECA-EU 8 131148107 131148107 single base substitution C T intron_variant RECA-EU 8 131151578 131151578 single base substitution G T intron_variant RECA-EU 8 131161799 131161799 single base substitution C T downstream_gene_variant RECA-EU 8 131161799 131161799 single base substitution C T intron_variant RECA-EU 8 131164211 131164211 single base substitution A G downstream_gene_variant RECA-EU 8 131164211 131164211 single base substitution A G intron_variant RECA-EU 8 131193209 131193209 single base substitution T A intron_variant RECA-EU 8 131193209 131193209 single base substitution T A upstream_gene_variant RECA-EU 8 131204563 131204563 single base substitution A C downstream_gene_variant RECA-EU 8 131204563 131204563 single base substitution A C intron_variant RECA-EU 8 131205258 131205258 single base substitution C T downstream_gene_variant RECA-EU 8 131205258 131205258 single base substitution C T intron_variant RECA-EU 8 131209977 131209977 single base substitution G A intron_variant RECA-EU 8 131213577 131213577 single base substitution T A intron_variant RECA-EU 8 131214388 131214388 single base substitution T G intron_variant RECA-EU 8 131232354 131232354 single base substitution G C intron_variant RECA-EU 8 131246274 131246274 single base substitution G C intron_variant RECA-EU 8 131256445 131256445 single base substitution A T intron_variant RECA-EU 8 131272232 131272232 single base substitution T C intron_variant RECA-EU 8 131286113 131286113 single base substitution T C intron_variant RECA-EU 8 131288547 131288547 single base substitution A T intron_variant RECA-EU 8 131302332 131302332 single base substitution T C intron_variant RECA-EU 8 131305696 131305696 single base substitution G A intron_variant RECA-EU 8 131316185 131316185 single base substitution G T intron_variant RECA-EU 8 131335359 131335359 single base substitution T A intron_variant RECA-EU 8 131335803 131335803 single base substitution G T intron_variant RECA-EU 8 131356623 131356623 single base substitution G T intron_variant RECA-EU 8 131356623 131356623 single base substitution G T upstream_gene_variant RECA-EU 8 131380782 131380782 single base substitution C T intron_variant RECA-EU 8 131382970 131382970 single base substitution G T intron_variant RECA-EU 8 131397861 131397861 single base substitution A T intron_variant RECA-EU 8 131403353 131403353 single base substitution T G intron_variant RECA-EU 8 131403353 131403353 single base substitution T G upstream_gene_variant RECA-EU 8 131406657 131406657 single base substitution C T intron_variant RECA-EU 8 131406981 131406981 single base substitution G C intron_variant RECA-EU 8 131408740 131408740 single base substitution A G intron_variant RECA-EU 8 131410267 131410267 single base substitution A T intron_variant RECA-EU 8 131417595 131417595 single base substitution C T intron_variant RECA-EU 8 131417595 131417595 single base substitution C T upstream_gene_variant RECA-EU 8 131420161 131420161 single base substitution A G intron_variant RECA-EU 8 131427836 131427836 single base substitution C A intron_variant RECA-EU 8 131435314 131435314 single base substitution T A intron_variant RECA-EU 8 131453916 131453916 single base substitution T A intron_variant SKCA-BR 8 131062526 131062527 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 8 131064337 131064337 single base substitution C T downstream_gene_variant SKCA-BR 8 131064981 131064981 insertion of <=200bp - GT 3_prime_UTR_variant SKCA-BR 8 131064981 131064981 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 8 131067543 131067543 single base substitution G A intron_variant SKCA-BR 8 131073012 131073012 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 131073012 131073012 single base substitution G A missense_variant S1002F 3005C>T SKCA-BR 8 131073012 131073012 single base substitution G A missense_variant S358F 1073C>T SKCA-BR 8 131073012 131073012 single base substitution G A missense_variant S822F 2465C>T SKCA-BR 8 131075503 131075503 single base substitution A G intron_variant SKCA-BR 8 131083934 131083934 single base substitution G A downstream_gene_variant SKCA-BR 8 131083934 131083934 single base substitution G A intron_variant SKCA-BR 8 131084941 131084941 single base substitution T C downstream_gene_variant SKCA-BR 8 131084941 131084941 single base substitution T C intron_variant SKCA-BR 8 131085034 131085034 single base substitution T C downstream_gene_variant SKCA-BR 8 131085034 131085034 single base substitution T C intron_variant SKCA-BR 8 131085071 131085071 insertion of <=200bp - GTGCGTGTGCGCGCGCGCGCGCA downstream_gene_variant SKCA-BR 8 131085071 131085071 insertion of <=200bp - GTGCGTGTGCGCGCGCGCGCGCA intron_variant SKCA-BR 8 131085076 131085076 insertion of <=200bp - CGCGCGCGCACGCGCG downstream_gene_variant SKCA-BR 8 131085076 131085076 insertion of <=200bp - CGCGCGCGCACGCGCG intron_variant SKCA-BR 8 131085413 131085413 single base substitution A G downstream_gene_variant SKCA-BR 8 131085413 131085413 single base substitution A G intron_variant SKCA-BR 8 131085818 131085818 single base substitution G A downstream_gene_variant SKCA-BR 8 131085818 131085818 single base substitution G A intron_variant SKCA-BR 8 131086730 131086730 single base substitution C G downstream_gene_variant SKCA-BR 8 131086730 131086730 single base substitution C G intron_variant SKCA-BR 8 131087408 131087408 single base substitution G A downstream_gene_variant SKCA-BR 8 131087408 131087408 single base substitution G A intron_variant SKCA-BR 8 131094928 131094928 single base substitution A T intron_variant SKCA-BR 8 131099520 131099520 insertion of <=200bp - CT intron_variant SKCA-BR 8 131100139 131100139 single base substitution G A intron_variant SKCA-BR 8 131100184 131100184 single base substitution G A intron_variant SKCA-BR 8 131100748 131100748 single base substitution A G intron_variant SKCA-BR 8 131103732 131103732 single base substitution T G intron_variant SKCA-BR 8 131105932 131105932 single base substitution A G intron_variant SKCA-BR 8 131110818 131110818 single base substitution A C intron_variant SKCA-BR 8 131111258 131111258 insertion of <=200bp - CTT intron_variant SKCA-BR 8 131116809 131116837 deletion of <=200bp ATAAATGATCCTGTCTCATTTGTTCAGTG - intron_variant SKCA-BR 8 131116839 131116839 single base substitution A G intron_variant SKCA-BR 8 131121610 131121610 single base substitution T C intron_variant SKCA-BR 8 131121772 131121772 single base substitution A T intron_variant SKCA-BR 8 131124900 131124900 single base substitution G A downstream_gene_variant SKCA-BR 8 131124900 131124900 single base substitution G A intron_variant SKCA-BR 8 131124900 131124900 single base substitution G A upstream_gene_variant SKCA-BR 8 131127015 131127015 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 8 131127015 131127015 insertion of <=200bp - AT intron_variant SKCA-BR 8 131127015 131127015 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 8 131130501 131130501 single base substitution G A intron_variant SKCA-BR 8 131130594 131130594 single base substitution C T intron_variant SKCA-BR 8 131134797 131134797 single base substitution A C intron_variant SKCA-BR 8 131134797 131134797 single base substitution A C upstream_gene_variant SKCA-BR 8 131135178 131135178 single base substitution G A intron_variant SKCA-BR 8 131135178 131135178 single base substitution G A upstream_gene_variant SKCA-BR 8 131136816 131136816 single base substitution G A intron_variant SKCA-BR 8 131137721 131137721 single base substitution G A intron_variant SKCA-BR 8 131138575 131138575 single base substitution A C intron_variant SKCA-BR 8 131138928 131138928 single base substitution G A intron_variant SKCA-BR 8 131144335 131144335 single base substitution G A intron_variant SKCA-BR 8 131154570 131154570 single base substitution G A intron_variant SKCA-BR 8 131155540 131155540 single base substitution G A intron_variant SKCA-BR 8 131163135 131163135 single base substitution A G downstream_gene_variant SKCA-BR 8 131163135 131163135 single base substitution A G intron_variant SKCA-BR 8 131165578 131165578 insertion of <=200bp - AATATAT intron_variant SKCA-BR 8 131165579 131165605 deletion of <=200bp ATATATATATATATATATATATATATG - intron_variant SKCA-BR 8 131165581 131165605 deletion of <=200bp ATATATATATATATATATATATATG - intron_variant SKCA-BR 8 131165601 131165601 insertion of <=200bp - ATATATATGTG intron_variant SKCA-BR 8 131165721 131165721 single base substitution T C intron_variant SKCA-BR 8 131166376 131166376 single base substitution G A intron_variant SKCA-BR 8 131169282 131169282 single base substitution G A intron_variant SKCA-BR 8 131171671 131171671 single base substitution A C intron_variant SKCA-BR 8 131173502 131173502 single base substitution C T intron_variant SKCA-BR 8 131173502 131173502 single base substitution C T upstream_gene_variant SKCA-BR 8 131173564 131173564 single base substitution C T intron_variant SKCA-BR 8 131173564 131173564 single base substitution C T upstream_gene_variant SKCA-BR 8 131177347 131177347 single base substitution G A intron_variant SKCA-BR 8 131183685 131183688 deletion of <=200bp GAAT - intron_variant SKCA-BR 8 131184519 131184519 single base substitution T G intron_variant SKCA-BR 8 131186337 131186344 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 8 131194570 131194570 single base substitution G A intron_variant SKCA-BR 8 131194570 131194570 single base substitution G A upstream_gene_variant SKCA-BR 8 131196296 131196296 single base substitution G A intron_variant SKCA-BR 8 131196296 131196296 single base substitution G A upstream_gene_variant SKCA-BR 8 131196603 131196603 single base substitution G A intron_variant SKCA-BR 8 131196603 131196603 single base substitution G A upstream_gene_variant SKCA-BR 8 131197570 131197570 single base substitution A G intron_variant SKCA-BR 8 131197570 131197570 single base substitution A G upstream_gene_variant SKCA-BR 8 131199898 131199898 single base substitution C A intron_variant SKCA-BR 8 131200992 131200992 single base substitution G A intron_variant SKCA-BR 8 131208588 131208588 insertion of <=200bp - CA intron_variant SKCA-BR 8 131209175 131209175 single base substitution T G intron_variant SKCA-BR 8 131209183 131209183 single base substitution T A intron_variant SKCA-BR 8 131209188 131209188 single base substitution C A intron_variant SKCA-BR 8 131211416 131211416 single base substitution T C intron_variant SKCA-BR 8 131213825 131213825 single base substitution T C intron_variant SKCA-BR 8 131220717 131220717 single base substitution T C intron_variant SKCA-BR 8 131221796 131221796 insertion of <=200bp - TA intron_variant SKCA-BR 8 131223195 131223195 single base substitution A C downstream_gene_variant SKCA-BR 8 131223195 131223195 single base substitution A C intron_variant SKCA-BR 8 131227376 131227376 single base substitution G A intron_variant SKCA-BR 8 131227376 131227376 single base substitution G A upstream_gene_variant SKCA-BR 8 131228273 131228273 single base substitution G A intron_variant SKCA-BR 8 131228273 131228273 single base substitution G A upstream_gene_variant SKCA-BR 8 131229783 131229783 insertion of <=200bp - TACACACACACACACACAC intron_variant SKCA-BR 8 131229783 131229783 insertion of <=200bp - TACACACACACACACACAC upstream_gene_variant SKCA-BR 8 131230166 131230166 single base substitution A G intron_variant SKCA-BR 8 131230166 131230166 single base substitution A G upstream_gene_variant SKCA-BR 8 131230748 131230748 single base substitution G A intron_variant SKCA-BR 8 131230748 131230748 single base substitution G A upstream_gene_variant SKCA-BR 8 131237508 131237508 single base substitution A T intron_variant SKCA-BR 8 131238289 131238290 deletion of <=200bp CT - intron_variant SKCA-BR 8 131240405 131240405 single base substitution G C intron_variant SKCA-BR 8 131252028 131252028 single base substitution G A intron_variant SKCA-BR 8 131252028 131252028 single base substitution G A upstream_gene_variant SKCA-BR 8 131254528 131254530 deletion of <=200bp AAC - intron_variant SKCA-BR 8 131254530 131254530 single base substitution C A intron_variant SKCA-BR 8 131255805 131255805 single base substitution T C intron_variant SKCA-BR 8 131260475 131260475 single base substitution T G intron_variant SKCA-BR 8 131260475 131260475 single base substitution T G upstream_gene_variant SKCA-BR 8 131273013 131273013 single base substitution T C intron_variant SKCA-BR 8 131274658 131274674 deletion of <=200bp AAAAAAGAGAGAGAGAG - intron_variant SKCA-BR 8 131274661 131274670 deletion of <=200bp AAAGAGAGAG - intron_variant SKCA-BR 8 131274663 131274674 deletion of <=200bp AGAGAGAGAGAG - intron_variant SKCA-BR 8 131279353 131279353 single base substitution C A intron_variant SKCA-BR 8 131282062 131282062 single base substitution A G intron_variant SKCA-BR 8 131282507 131282507 single base substitution C T intron_variant SKCA-BR 8 131286790 131286790 single base substitution A C intron_variant SKCA-BR 8 131288416 131288416 single base substitution G A intron_variant SKCA-BR 8 131288662 131288662 single base substitution G A intron_variant SKCA-BR 8 131288974 131288974 insertion of <=200bp - ACACACACTCTCTCTCTCTCT intron_variant SKCA-BR 8 131290047 131290049 deletion of <=200bp CAT - intron_variant SKCA-BR 8 131290598 131290598 single base substitution T G intron_variant SKCA-BR 8 131290635 131290635 single base substitution G A intron_variant SKCA-BR 8 131290641 131290641 single base substitution G A intron_variant SKCA-BR 8 131290646 131290646 single base substitution T A intron_variant SKCA-BR 8 131293683 131293683 single base substitution C T intron_variant SKCA-BR 8 131295177 131295177 single base substitution A C intron_variant SKCA-BR 8 131304301 131304301 single base substitution C T intron_variant SKCA-BR 8 131307519 131307519 single base substitution A T intron_variant SKCA-BR 8 131309357 131309357 single base substitution G A intron_variant SKCA-BR 8 131309862 131309862 single base substitution C T intron_variant SKCA-BR 8 131309920 131309920 single base substitution G A intron_variant SKCA-BR 8 131314688 131314688 single base substitution A T intron_variant SKCA-BR 8 131318364 131318364 single base substitution A G intron_variant SKCA-BR 8 131319822 131319822 single base substitution A C intron_variant SKCA-BR 8 131324187 131324187 single base substitution G A intron_variant SKCA-BR 8 131324699 131324700 deletion of <=200bp GA - intron_variant SKCA-BR 8 131324707 131324708 deletion of <=200bp AC - intron_variant SKCA-BR 8 131325250 131325250 single base substitution A C intron_variant SKCA-BR 8 131325907 131325907 single base substitution T A intron_variant SKCA-BR 8 131331012 131331012 single base substitution A C intron_variant SKCA-BR 8 131331080 131331080 single base substitution G A intron_variant SKCA-BR 8 131332344 131332344 single base substitution C T intron_variant SKCA-BR 8 131333426 131333426 single base substitution A C intron_variant SKCA-BR 8 131335738 131335738 single base substitution A C intron_variant SKCA-BR 8 131335847 131335847 single base substitution A G intron_variant SKCA-BR 8 131337448 131337448 single base substitution G A intron_variant SKCA-BR 8 131337449 131337449 single base substitution G A intron_variant SKCA-BR 8 131340857 131340857 insertion of <=200bp - CT intron_variant SKCA-BR 8 131341956 131341956 single base substitution G C intron_variant SKCA-BR 8 131342793 131342807 deletion of <=200bp CAAAAACCAGGCACA - intron_variant SKCA-BR 8 131342982 131342982 single base substitution G T intron_variant SKCA-BR 8 131345639 131345639 single base substitution G A intron_variant SKCA-BR 8 131345640 131345640 single base substitution G A intron_variant SKCA-BR 8 131345697 131345697 single base substitution A C intron_variant SKCA-BR 8 131348733 131348733 single base substitution G A intron_variant SKCA-BR 8 131349019 131349019 single base substitution T G intron_variant SKCA-BR 8 131350436 131350436 single base substitution A T intron_variant SKCA-BR 8 131360466 131360466 single base substitution G A intron_variant SKCA-BR 8 131360747 131360747 single base substitution A C intron_variant SKCA-BR 8 131367481 131367481 single base substitution A G intron_variant SKCA-BR 8 131369152 131369152 single base substitution T C downstream_gene_variant SKCA-BR 8 131369152 131369152 single base substitution T C intron_variant SKCA-BR 8 131369170 131369170 single base substitution A C downstream_gene_variant SKCA-BR 8 131369170 131369170 single base substitution A C intron_variant SKCA-BR 8 131370910 131370910 single base substitution G A downstream_gene_variant SKCA-BR 8 131370910 131370910 single base substitution G A intron_variant SKCA-BR 8 131371262 131371262 single base substitution G T downstream_gene_variant SKCA-BR 8 131371262 131371262 single base substitution G T intron_variant SKCA-BR 8 131371681 131371687 deletion of <=200bp AAAGAAG - downstream_gene_variant SKCA-BR 8 131371681 131371687 deletion of <=200bp AAAGAAG - intron_variant SKCA-BR 8 131371864 131371865 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 8 131371864 131371865 deletion of <=200bp GT - intron_variant SKCA-BR 8 131372410 131372410 single base substitution A G downstream_gene_variant SKCA-BR 8 131372410 131372410 single base substitution A G intron_variant SKCA-BR 8 131374375 131374375 single base substitution G C intron_variant SKCA-BR 8 131376535 131376535 single base substitution G A intron_variant SKCA-BR 8 131385355 131385369 deletion of <=200bp TATACACACACACAC - intron_variant SKCA-BR 8 131385506 131385506 single base substitution G A intron_variant SKCA-BR 8 131388441 131388441 single base substitution A G intron_variant SKCA-BR 8 131403392 131403418 deletion of <=200bp TTGAGGACATTATGTTAAGTAAGGCAG - intron_variant SKCA-BR 8 131403392 131403418 deletion of <=200bp TTGAGGACATTATGTTAAGTAAGGCAG - upstream_gene_variant SKCA-BR 8 131405153 131405153 single base substitution G C intron_variant SKCA-BR 8 131408709 131408709 single base substitution T C intron_variant SKCA-BR 8 131412963 131412963 single base substitution G A intron_variant SKCA-BR 8 131413036 131413036 insertion of <=200bp - CA intron_variant SKCA-BR 8 131413498 131413498 single base substitution A C intron_variant SKCA-BR 8 131414257 131414257 single base substitution G A intron_variant SKCA-BR 8 131414257 131414257 single base substitution G A upstream_gene_variant SKCA-BR 8 131415650 131415650 single base substitution C T intron_variant SKCA-BR 8 131415650 131415650 single base substitution C T upstream_gene_variant SKCA-BR 8 131418219 131418219 single base substitution T C intron_variant SKCA-BR 8 131418219 131418219 single base substitution T C upstream_gene_variant SKCA-BR 8 131421670 131421670 single base substitution C T intron_variant SKCA-BR 8 131422367 131422367 single base substitution C T intron_variant SKCA-BR 8 131423519 131423519 single base substitution A C intron_variant SKCA-BR 8 131427871 131427871 single base substitution G A intron_variant SKCA-BR 8 131429399 131429431 deletion of <=200bp TGTACAACTGCACACACACAGAAAACAACCCAC - intron_variant SKCA-BR 8 131429431 131429431 single base substitution C T intron_variant SKCA-BR 8 131432190 131432190 single base substitution A C intron_variant SKCA-BR 8 131433939 131433939 single base substitution A G intron_variant SKCA-BR 8 131437267 131437267 single base substitution A T intron_variant SKCA-BR 8 131438759 131438759 single base substitution T C intron_variant SKCA-BR 8 131439172 131439172 single base substitution A T intron_variant SKCA-BR 8 131439825 131439825 single base substitution G A intron_variant SKCA-BR 8 131441204 131441204 single base substitution C T intron_variant SKCA-BR 8 131441204 131441204 single base substitution C T upstream_gene_variant SKCA-BR 8 131447482 131447482 single base substitution T G intron_variant SKCA-BR 8 131448800 131448800 single base substitution A C intron_variant SKCA-BR 8 131449350 131449350 insertion of <=200bp - CA intron_variant SKCA-BR 8 131452928 131452928 single base substitution C T intron_variant SKCA-BR 8 131455461 131455461 single base substitution T C intron_variant SKCA-BR 8 131455469 131455469 single base substitution C A intron_variant SKCA-BR 8 131456011 131456011 single base substitution C A upstream_gene_variant SKCA-BR 8 131456065 131456065 single base substitution C G upstream_gene_variant SKCA-BR 8 131457021 131457021 single base substitution G A upstream_gene_variant SKCA-BR 8 131460836 131460836 single base substitution G A upstream_gene_variant SKCM-US 8 131072886 131072886 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131072886 131072886 single base substitution G A missense_variant S1044F 3131C>T SKCM-US 8 131072886 131072886 single base substitution G A missense_variant S400F 1199C>T SKCM-US 8 131072886 131072886 single base substitution G A missense_variant S864F 2591C>T SKCM-US 8 131073123 131073123 single base substitution T G 3_prime_UTR_variant SKCM-US 8 131073123 131073123 single base substitution T G missense_variant K321T 962A>C SKCM-US 8 131073123 131073123 single base substitution T G missense_variant K785T 2354A>C SKCM-US 8 131073123 131073123 single base substitution T G missense_variant K965T 2894A>C SKCM-US 8 131104224 131104224 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131104224 131104224 single base substitution G A exon_variant SKCM-US 8 131104224 131104224 single base substitution G A intron_variant SKCM-US 8 131104224 131104224 single base substitution G A missense_variant P676L 2027C>T SKCM-US 8 131104224 131104224 single base substitution G A missense_variant P856L 2567C>T SKCM-US 8 131104255 131104255 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131104255 131104255 single base substitution G A exon_variant SKCM-US 8 131104255 131104255 single base substitution G A intron_variant SKCM-US 8 131104255 131104255 single base substitution G A missense_variant P666S 1996C>T SKCM-US 8 131104255 131104255 single base substitution G A missense_variant P846S 2536C>T SKCM-US 8 131104275 131104275 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131104275 131104275 single base substitution G A exon_variant SKCM-US 8 131104275 131104275 single base substitution G A intron_variant SKCM-US 8 131104275 131104275 single base substitution G A missense_variant S659F 1976C>T SKCM-US 8 131104275 131104275 single base substitution G A missense_variant S839F 2516C>T SKCM-US 8 131104305 131104305 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131104305 131104305 single base substitution G A exon_variant SKCM-US 8 131104305 131104305 single base substitution G A intron_variant SKCM-US 8 131104305 131104305 single base substitution G A missense_variant P649L 1946C>T SKCM-US 8 131104305 131104305 single base substitution G A missense_variant P829L 2486C>T SKCM-US 8 131104327 131104327 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131104327 131104327 single base substitution G A exon_variant SKCM-US 8 131104327 131104327 single base substitution G A intron_variant SKCM-US 8 131104327 131104327 single base substitution G A synonymous_variant L642L 1924C>T SKCM-US 8 131104327 131104327 single base substitution G A synonymous_variant L822L 2464C>T SKCM-US 8 131124416 131124416 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131124416 131124416 single base substitution G A downstream_gene_variant SKCM-US 8 131124416 131124416 single base substitution G A exon_variant SKCM-US 8 131124416 131124416 single base substitution G A synonymous_variant F188F 564C>T SKCM-US 8 131124416 131124416 single base substitution G A synonymous_variant F595F 1785C>T SKCM-US 8 131124416 131124416 single base substitution G A synonymous_variant F775F 2325C>T SKCM-US 8 131124539 131124539 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131124539 131124539 single base substitution G A downstream_gene_variant SKCM-US 8 131124539 131124539 single base substitution G A exon_variant SKCM-US 8 131124539 131124539 single base substitution G A synonymous_variant P147P 441C>T SKCM-US 8 131124539 131124539 single base substitution G A synonymous_variant P554P 1662C>T SKCM-US 8 131124539 131124539 single base substitution G A synonymous_variant P734P 2202C>T SKCM-US 8 131127951 131127951 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131127951 131127951 single base substitution G A exon_variant SKCM-US 8 131127951 131127951 single base substitution G A missense_variant P112S 334C>T SKCM-US 8 131127951 131127951 single base substitution G A missense_variant P519S 1555C>T SKCM-US 8 131127951 131127951 single base substitution G A missense_variant P699S 2095C>T SKCM-US 8 131127951 131127951 single base substitution G A upstream_gene_variant SKCM-US 8 131138245 131138245 single base substitution A T 3_prime_UTR_variant SKCM-US 8 131138245 131138245 single base substitution A T missense_variant I311N 932T>A SKCM-US 8 131138245 131138245 single base substitution A T missense_variant I491N 1472T>A SKCM-US 8 131140257 131140257 single base substitution T A 3_prime_UTR_variant SKCM-US 8 131140257 131140257 single base substitution T A missense_variant S253C 757A>T SKCM-US 8 131140257 131140257 single base substitution T A missense_variant S433C 1297A>T SKCM-US 8 131179807 131179807 single base substitution G A 3_prime_UTR_variant SKCM-US 8 131179807 131179807 single base substitution G A missense_variant S112F 335C>T SKCM-US 8 131179807 131179807 single base substitution G A missense_variant S265F 794C>T SKCM-US 8 131179807 131179807 single base substitution G A missense_variant S295F 884C>T STAD-US 8 131070228 131070228 single base substitution A G 3_prime_UTR_variant STAD-US 8 131070228 131070228 single base substitution A G missense_variant V1096A 3287T>C STAD-US 8 131070228 131070228 single base substitution A G missense_variant V452A 1355T>C STAD-US 8 131070228 131070228 single base substitution A G missense_variant V916A 2747T>C STAD-US 8 131070256 131070256 single base substitution T C 3_prime_UTR_variant STAD-US 8 131070256 131070256 single base substitution T C missense_variant T1087A 3259A>G STAD-US 8 131070256 131070256 single base substitution T C missense_variant T443A 1327A>G STAD-US 8 131070256 131070256 single base substitution T C missense_variant T907A 2719A>G STAD-US 8 131072825 131072825 single base substitution C T splice_region_variant STAD-US 8 131072887 131072887 single base substitution A T 3_prime_UTR_variant STAD-US 8 131072887 131072887 single base substitution A T missense_variant S1044T 3130T>A STAD-US 8 131072887 131072887 single base substitution A T missense_variant S400T 1198T>A STAD-US 8 131072887 131072887 single base substitution A T missense_variant S864T 2590T>A STAD-US 8 131072914 131072914 single base substitution C T 3_prime_UTR_variant STAD-US 8 131072914 131072914 single base substitution C T missense_variant A1035T 3103G>A STAD-US 8 131072914 131072914 single base substitution C T missense_variant A391T 1171G>A STAD-US 8 131072914 131072914 single base substitution C T missense_variant A855T 2563G>A STAD-US 8 131073067 131073067 single base substitution G C 3_prime_UTR_variant STAD-US 8 131073067 131073067 single base substitution G C missense_variant P340A 1018C>G STAD-US 8 131073067 131073067 single base substitution G C missense_variant P804A 2410C>G STAD-US 8 131073067 131073067 single base substitution G C missense_variant P984A 2950C>G STAD-US 8 131073125 131073125 insertion of <=200bp - G 3_prime_UTR_variant STAD-US 8 131073125 131073125 insertion of <=200bp - G frameshift_variant P320P? STAD-US 8 131073125 131073125 insertion of <=200bp - G frameshift_variant P784P? STAD-US 8 131073125 131073125 insertion of <=200bp - G frameshift_variant P964P? STAD-US 8 131073151 131073151 single base substitution G A 3_prime_UTR_variant STAD-US 8 131073151 131073151 single base substitution G A missense_variant P312S 934C>T STAD-US 8 131073151 131073151 single base substitution G A missense_variant P776S 2326C>T STAD-US 8 131073151 131073151 single base substitution G A missense_variant P956S 2866C>T STAD-US 8 131073177 131073177 single base substitution G A 3_prime_UTR_variant STAD-US 8 131073177 131073177 single base substitution G A missense_variant A303V 908C>T STAD-US 8 131073177 131073177 single base substitution G A missense_variant A767V 2300C>T STAD-US 8 131073177 131073177 single base substitution G A missense_variant A947V 2840C>T STAD-US 8 131088602 131088602 single base substitution G T 3_prime_UTR_variant STAD-US 8 131088602 131088602 single base substitution G T downstream_gene_variant STAD-US 8 131088602 131088602 single base substitution G T missense_variant P254H 761C>A STAD-US 8 131088602 131088602 single base substitution G T missense_variant P718H 2153C>A STAD-US 8 131088602 131088602 single base substitution G T missense_variant P898H 2693C>A STAD-US 8 131092151 131092151 single base substitution G A 3_prime_UTR_variant STAD-US 8 131092151 131092151 single base substitution G A exon_variant STAD-US 8 131092151 131092151 single base substitution G A missense_variant S236L 707C>T STAD-US 8 131092151 131092151 single base substitution G A missense_variant S700L 2099C>T STAD-US 8 131092151 131092151 single base substitution G A missense_variant S880L 2639C>T STAD-US 8 131104379 131104379 single base substitution G A 3_prime_UTR_variant STAD-US 8 131104379 131104379 single base substitution G A exon_variant STAD-US 8 131104379 131104379 single base substitution G A intron_variant STAD-US 8 131104379 131104379 single base substitution G A synonymous_variant G624G 1872C>T STAD-US 8 131104379 131104379 single base substitution G A synonymous_variant G804G 2412C>T STAD-US 8 131124450 131124450 single base substitution C T 3_prime_UTR_variant STAD-US 8 131124450 131124450 single base substitution C T downstream_gene_variant STAD-US 8 131124450 131124450 single base substitution C T exon_variant STAD-US 8 131124450 131124450 single base substitution C T missense_variant R177Q 530G>A STAD-US 8 131124450 131124450 single base substitution C T missense_variant R584Q 1751G>A STAD-US 8 131124450 131124450 single base substitution C T missense_variant R764Q 2291G>A STAD-US 8 131124486 131124486 single base substitution G A 3_prime_UTR_variant STAD-US 8 131124486 131124486 single base substitution G A downstream_gene_variant STAD-US 8 131124486 131124486 single base substitution G A exon_variant STAD-US 8 131124486 131124486 single base substitution G A missense_variant A165V 494C>T STAD-US 8 131124486 131124486 single base substitution G A missense_variant A572V 1715C>T STAD-US 8 131124486 131124486 single base substitution G A missense_variant A752V 2255C>T STAD-US 8 131129220 131129220 single base substitution C T 3_prime_UTR_variant STAD-US 8 131129220 131129220 single base substitution C T exon_variant STAD-US 8 131129220 131129220 single base substitution C T synonymous_variant T454T 1362G>A STAD-US 8 131129220 131129220 single base substitution C T synonymous_variant T47T 141G>A STAD-US 8 131129220 131129220 single base substitution C T synonymous_variant T634T 1902G>A STAD-US 8 131129220 131129220 single base substitution C T upstream_gene_variant STAD-US 8 131130877 131130877 single base substitution C A 3_prime_UTR_variant STAD-US 8 131130877 131130877 single base substitution C A exon_variant STAD-US 8 131130877 131130877 single base substitution C A missense_variant R371M 1112G>T STAD-US 8 131130877 131130877 single base substitution C A missense_variant R551M 1652G>T STAD-US 8 131130877 131130877 single base substitution C A upstream_gene_variant STAD-US 8 131140189 131140189 single base substitution G A 3_prime_UTR_variant STAD-US 8 131140189 131140189 single base substitution G A synonymous_variant C275C 825C>T STAD-US 8 131140189 131140189 single base substitution G A synonymous_variant C455C 1365C>T STAD-US 8 131146567 131146567 single base substitution C A 3_prime_UTR_variant STAD-US 8 131146567 131146567 single base substitution C A missense_variant A218S 652G>T STAD-US 8 131146567 131146567 single base substitution C A missense_variant A398S 1192G>T STAD-US 8 131149216 131149216 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 8 131149216 131149216 insertion of <=200bp - T frameshift_variant K203K? STAD-US 8 131149216 131149216 insertion of <=200bp - T frameshift_variant K383K? STAD-US 8 131149264 131149264 single base substitution C T 3_prime_UTR_variant STAD-US 8 131149264 131149264 single base substitution C T synonymous_variant K187K 561G>A STAD-US 8 131149264 131149264 single base substitution C T synonymous_variant K367K 1101G>A STAD-US 8 131165019 131165019 single base substitution G A 3_prime_UTR_variant STAD-US 8 131165019 131165019 single base substitution G A exon_variant STAD-US 8 131165019 131165019 single base substitution G A missense_variant S168L 503C>T STAD-US 8 131165019 131165019 single base substitution G A missense_variant S318L 953C>T STAD-US 8 131165019 131165019 single base substitution G A missense_variant S348L 1043C>T STAD-US 8 131172126 131172126 single base substitution G A 3_prime_UTR_variant STAD-US 8 131172126 131172126 single base substitution G A exon_variant STAD-US 8 131172126 131172126 single base substitution G A synonymous_variant L152L 454C>T STAD-US 8 131172126 131172126 single base substitution G A synonymous_variant L302L 904C>T STAD-US 8 131172126 131172126 single base substitution G A synonymous_variant L332L 994C>T STAD-US 8 131172152 131172152 single base substitution T C 3_prime_UTR_variant STAD-US 8 131172152 131172152 single base substitution T C exon_variant STAD-US 8 131172152 131172152 single base substitution T C missense_variant Y143C 428A>G STAD-US 8 131172152 131172152 single base substitution T C missense_variant Y293C 878A>G STAD-US 8 131172152 131172152 single base substitution T C missense_variant Y323C 968A>G STAD-US 8 131172154 131172154 single base substitution T C 3_prime_UTR_variant STAD-US 8 131172154 131172154 single base substitution T C exon_variant STAD-US 8 131172154 131172154 single base substitution T C synonymous_variant E142E 426A>G STAD-US 8 131172154 131172154 single base substitution T C synonymous_variant E292E 876A>G STAD-US 8 131172154 131172154 single base substitution T C synonymous_variant E322E 966A>G STAD-US 8 131226856 131226856 single base substitution C T 3_prime_UTR_variant STAD-US 8 131226856 131226856 single base substitution C T 5_prime_UTR_variant STAD-US 8 131226856 131226856 single base substitution C T downstream_gene_variant STAD-US 8 131226856 131226856 single base substitution C T exon_variant STAD-US 8 131226856 131226856 single base substitution C T synonymous_variant A117A 351G>A STAD-US 8 131226856 131226856 single base substitution C T synonymous_variant A87A 261G>A STAD-US 8 131226861 131226861 single base substitution T C 3_prime_UTR_variant STAD-US 8 131226861 131226861 single base substitution T C 5_prime_UTR_variant STAD-US 8 131226861 131226861 single base substitution T C downstream_gene_variant STAD-US 8 131226861 131226861 single base substitution T C exon_variant STAD-US 8 131226861 131226861 single base substitution T C missense_variant T116A 346A>G STAD-US 8 131226861 131226861 single base substitution T C missense_variant T86A 256A>G STAD-US 8 131226887 131226887 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 8 131226887 131226887 deletion of <=200bp A - 5_prime_UTR_variant STAD-US 8 131226887 131226887 deletion of <=200bp A - downstream_gene_variant STAD-US 8 131226887 131226887 deletion of <=200bp A - exon_variant STAD-US 8 131226887 131226887 deletion of <=200bp A - frameshift_variant L107 STAD-US 8 131226887 131226887 deletion of <=200bp A - frameshift_variant L77 STAD-US 8 131226887 131226887 deletion of <=200bp A - upstream_gene_variant STAD-US 8 131370319 131370319 single base substitution A G 3_prime_UTR_variant STAD-US 8 131370319 131370319 single base substitution A G downstream_gene_variant STAD-US 8 131370319 131370319 single base substitution A G missense_variant S37P 109T>C STAD-US 8 131370319 131370319 single base substitution A G missense_variant S44P 130T>C THCA-SA 8 131130438 131130438 single base substitution G T 3_prime_UTR_variant THCA-SA 8 131130438 131130438 single base substitution G T exon_variant THCA-SA 8 131130438 131130438 single base substitution G T missense_variant L30I 88C>A THCA-SA 8 131130438 131130438 single base substitution G T missense_variant L437I 1309C>A THCA-SA 8 131130438 131130438 single base substitution G T missense_variant L617I 1849C>A THCA-SA 8 131181271 131181271 single base substitution C T 3_prime_UTR_variant THCA-SA 8 131181271 131181271 single base substitution C T synonymous_variant Q233Q 699G>A THCA-SA 8 131181271 131181271 single base substitution C T synonymous_variant Q263Q 789G>A THCA-SA 8 131181271 131181271 single base substitution C T synonymous_variant Q80Q 240G>A THCA-SA 8 131308177 131308177 single base substitution A T intron_variant THCA-US 8 131067027 131067027 single base substitution C T 3_prime_UTR_variant THCA-US 8 131067027 131067027 single base substitution C T missense_variant E1114K 3340G>A THCA-US 8 131067027 131067027 single base substitution C T missense_variant E470K 1408G>A THCA-US 8 131067027 131067027 single base substitution C T missense_variant E934K 2800G>A UCEC-US 8 131067040 131067040 single base substitution G A 3_prime_UTR_variant UCEC-US 8 131067040 131067040 single base substitution G A synonymous_variant I1109I 3327C>T UCEC-US 8 131067040 131067040 single base substitution G A synonymous_variant I465I 1395C>T UCEC-US 8 131067040 131067040 single base substitution G A synonymous_variant I929I 2787C>T UCEC-US 8 131072852 131072852 single base substitution G A 3_prime_UTR_variant UCEC-US 8 131072852 131072852 single base substitution G A synonymous_variant P1055P 3165C>T UCEC-US 8 131072852 131072852 single base substitution G A synonymous_variant P411P 1233C>T UCEC-US 8 131072852 131072852 single base substitution G A synonymous_variant P875P 2625C>T UCEC-US 8 131073262 131073262 single base substitution C T 3_prime_UTR_variant UCEC-US 8 131073262 131073262 single base substitution C T missense_variant E275K 823G>A UCEC-US 8 131073262 131073262 single base substitution C T missense_variant E739K 2215G>A UCEC-US 8 131073262 131073262 single base substitution C T missense_variant E919K 2755G>A UCEC-US 8 131081833 131081833 single base substitution G T intron_variant UCEC-US 8 131081888 131081888 single base substitution G A intron_variant UCEC-US 8 131104231 131104231 single base substitution C T 3_prime_UTR_variant UCEC-US 8 131104231 131104231 single base substitution C T exon_variant UCEC-US 8 131104231 131104231 single base substitution C T intron_variant UCEC-US 8 131104231 131104231 single base substitution C T missense_variant A674T 2020G>A UCEC-US 8 131104231 131104231 single base substitution C T missense_variant A854T 2560G>A UCEC-US 8 131104232 131104232 single base substitution G A 3_prime_UTR_variant UCEC-US 8 131104232 131104232 single base substitution G A exon_variant UCEC-US 8 131104232 131104232 single base substitution G A intron_variant UCEC-US 8 131104232 131104232 single base substitution G A synonymous_variant G673G 2019C>T UCEC-US 8 131104232 131104232 single base substitution G A synonymous_variant G853G 2559C>T UCEC-US 8 131127951 131127951 single base substitution G A 3_prime_UTR_variant UCEC-US 8 131127951 131127951 single base substitution G A exon_variant UCEC-US 8 131127951 131127951 single base substitution G A missense_variant P112S 334C>T UCEC-US 8 131127951 131127951 single base substitution G A missense_variant P519S 1555C>T UCEC-US 8 131127951 131127951 single base substitution G A missense_variant P699S 2095C>T UCEC-US 8 131127951 131127951 single base substitution G A upstream_gene_variant UCEC-US 8 131130828 131130828 single base substitution C G 3_prime_UTR_variant UCEC-US 8 131130828 131130828 single base substitution C G exon_variant UCEC-US 8 131130828 131130828 single base substitution C G missense_variant L387F 1161G>C UCEC-US 8 131130828 131130828 single base substitution C G missense_variant L567F 1701G>C UCEC-US 8 131130828 131130828 single base substitution C G upstream_gene_variant UCEC-US 8 131138205 131138205 single base substitution G T 3_prime_UTR_variant UCEC-US 8 131138205 131138205 single base substitution G T synonymous_variant L324L 972C>A UCEC-US 8 131138205 131138205 single base substitution G T synonymous_variant L504L 1512C>A UCEC-US 8 131140248 131140248 single base substitution C A 3_prime_UTR_variant UCEC-US 8 131140248 131140248 single base substitution C A missense_variant D256Y 766G>T UCEC-US 8 131140248 131140248 single base substitution C A missense_variant D436Y 1306G>T UCEC-US 8 131140288 131140288 single base substitution G T 3_prime_UTR_variant UCEC-US 8 131140288 131140288 single base substitution G T synonymous_variant A242A 726C>A UCEC-US 8 131140288 131140288 single base substitution G T synonymous_variant A422A 1266C>A UCEC-US 8 131149208 131149208 single base substitution T C 3_prime_UTR_variant UCEC-US 8 131149208 131149208 single base substitution T C missense_variant D206G 617A>G UCEC-US 8 131149208 131149208 single base substitution T C missense_variant D386G 1157A>G UCEC-US 8 131149214 131149214 single base substitution G T 3_prime_UTR_variant UCEC-US 8 131149214 131149214 single base substitution G T missense_variant S204Y 611C>A UCEC-US 8 131149214 131149214 single base substitution G T missense_variant S384Y 1151C>A UCEC-US 8 131191524 131191524 single base substitution G A 3_prime_UTR_variant UCEC-US 8 131191524 131191524 single base substitution G A downstream_gene_variant UCEC-US 8 131191524 131191524 single base substitution G A exon_variant UCEC-US 8 131191524 131191524 single base substitution G A synonymous_variant Y214Y 642C>T UCEC-US 8 131191524 131191524 single base substitution G A synonymous_variant Y244Y 732C>T UCEC-US 8 131191524 131191524 single base substitution G A synonymous_variant Y61Y 183C>T UCEC-US 8 131191540 131191540 single base substitution T G 3_prime_UTR_variant UCEC-US 8 131191540 131191540 single base substitution T G downstream_gene_variant UCEC-US 8 131191540 131191540 single base substitution T G exon_variant UCEC-US 8 131191540 131191540 single base substitution T G missense_variant N209T 626A>C UCEC-US 8 131191540 131191540 single base substitution T G missense_variant N239T 716A>C UCEC-US 8 131191540 131191540 single base substitution T G missense_variant N56T 167A>C UCEC-US 8 131193047 131193047 single base substitution C T 3_prime_UTR_variant UCEC-US 8 131193047 131193047 single base substitution C T downstream_gene_variant UCEC-US 8 131193047 131193047 single base substitution C T exon_variant UCEC-US 8 131193047 131193047 single base substitution C T missense_variant A12T 34G>A UCEC-US 8 131193047 131193047 single base substitution C T missense_variant A174T 520G>A UCEC-US 8 131193047 131193047 single base substitution C T missense_variant A204T 610G>A UCEC-US 8 131193047 131193047 single base substitution C T missense_variant A21T 61G>A UCEC-US 8 131200363 131200363 single base substitution C T 3_prime_UTR_variant UCEC-US 8 131200363 131200363 single base substitution C T 5_prime_UTR_variant UCEC-US 8 131200363 131200363 single base substitution C T exon_variant UCEC-US 8 131200363 131200363 single base substitution C T missense_variant V128I 382G>A UCEC-US 8 131200363 131200363 single base substitution C T missense_variant V158I 472G>A UCEC-US 8 131226910 131226910 single base substitution A G 3_prime_UTR_variant UCEC-US 8 131226910 131226910 single base substitution A G 5_prime_UTR_variant UCEC-US 8 131226910 131226910 single base substitution A G exon_variant UCEC-US 8 131226910 131226910 single base substitution A G synonymous_variant L69L 207T>C UCEC-US 8 131226910 131226910 single base substitution A G synonymous_variant L92L 276T>C UCEC-US 8 131226910 131226910 single base substitution A G synonymous_variant L99L 297T>C UCEC-US 8 131226910 131226910 single base substitution A G upstream_gene_variant UCEC-US 8 131249176 131249176 single base substitution G T 3_prime_UTR_variant UCEC-US 8 131249176 131249176 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 8 131249176 131249176 single base substitution G T exon_variant UCEC-US 8 131249176 131249176 single base substitution G T missense_variant S54Y 161C>A UCEC-US 8 131249176 131249176 single base substitution G T missense_variant S77Y 230C>A UCEC-US 8 131249176 131249176 single base substitution G T missense_variant S84Y 251C>A UCEC-US 8 131414152 131414152 single base substitution G A exon_variant UCEC-US 8 131414152 131414152 single base substitution G A missense_variant S13L 38C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DI-A0WH-01 COSM1096087 c.2336G>A p.S779N Substitution - Missense 8:130112159-130112159 - I2L-P24Tb-Tumor-Organoid COSM5358822 c.3162G>A p.T1054T Substitution - coding silent 8:130060609-130060609 - TCGA-BS-A0TD-01 COSM1096091 c.1306G>T p.D436Y Substitution - Missense 8:130128002-130128002 - TCGA-DK-A3IM-01 COSM226642 c.1852C>T p.H618Y Substitution - Missense 8:130118189-130118189 - YURTHE COSM1700622 c.1603_1604GA>TG p.D535C Substitution - Missense 8:130124016-130124017 - TCGA-23-2077-01 COSM79518 c.2811A>G p.G937G Substitution - coding silent 8:130060960-130060960 - TCGA-ES-A2HS-01 COSM4910469 c.1641T>C p.Y547Y Substitution - coding silent 8:130118642-130118642 - TCGA-BP-4164-01 COSM1137824 c.1041T>C p.C347C Substitution - coding silent 8:130152775-130152775 - TCGA-B0-4710-01 COSM486080 c.2363C>T p.T788M Substitution - Missense 8:130112132-130112132 - TCGA-33-6737-01 COSM749394 c.1837G>T p.D613Y Substitution - Missense 8:130118204-130118204 - TCGA-D1-A15X-01 COSM1096098 c.610G>A p.A204T Substitution - Missense 8:130180801-130180801 - CSCC-18-T COSM4473341 c.1844C>G p.T615R Substitution - Missense 8:130118197-130118197 - TCGA-C5-A3HE-01 COSM4827941 c.2056G>A p.E686K Substitution - Missense 8:130116686-130116686 - TCGA-B8-4153-01 COSM486079 c.2838G>C p.L946L Substitution - coding silent 8:130060933-130060933 - TCGA-DI-A0WH-01 COSM1096081 c.3159G>T p.E1053D Substitution - Missense 8:130060612-130060612 - TCGA-UB-A7MB-01 COSM4930903 c.1720A>T p.R574W Substitution - Missense 8:130118563-130118563 - 587234 COSM1183708 c.2497G>A p.G833R Substitution - Missense 8:130092048-130092048 - CSCC-44-T COSM4470394 c.1658C>T p.S553L Substitution - Missense 8:130118625-130118625 - TCGA-BS-A0UF-01 COSM1096096 c.716A>C p.N239T Substitution - Missense 8:130179294-130179294 - YUKAT COSM4663589 c.2628A>G p.L876L Substitution - coding silent 8:130079916-130079916 - TCGA-AP-A051-01 COSM1096085 c.2559C>T p.G853G Substitution - coding silent 8:130091986-130091986 - TCGA-DK-A3IS-01 COSM1313714 c.1474C>T p.Q492* Substitution - Nonsense 8:130125997-130125997 - OSCC-GB_00890111 COSM4887477 c.2722C>T p.H908Y Substitution - Missense 8:130061049-130061049 - TCGA-BR-6452-01 COSM3896748 c.3130T>A p.S1044T Substitution - Missense 8:130060641-130060641 - 587222 COSM1183704 c.1823C>T p.A608V Substitution - Missense 8:130118218-130118218 - TCGA-B8-4153-01 COSM486077 c.2839G>C p.A947P Substitution - Missense 8:130060932-130060932 - PD22360a COSM5796048 c.2019C>G p.A673A Substitution - coding silent 8:130116723-130116723 - TCGA-J9-A52C-01 COSM1187615 c.2750C>T p.P917L Substitution - Missense 8:130061021-130061021 - TCGA-BR-4184-01 COSM3896745 c.3287T>C p.V1096A Substitution - Missense 8:130057982-130057982 - TCGA-CD-5813-01 COSM604168 c.2866C>T p.P956S Substitution - Missense 8:130060905-130060905 - LUAD-D01603 COSM338061 c.2020C>A p.L674I Substitution - Missense 8:130116722-130116722 - TCGA-06-0939-01 COSM3412755 c.36G>T p.S12S Substitution - coding silent 8:130401908-130401908 - LUAD-S00488 COSM404107 c.2973C>A p.P991P Substitution - coding silent 8:130060798-130060798 - pfg008T COSM4761396 c.1011-1G>T p.? Unknown 8:130152806-130152806 - OSCC-GB_00320111 COSM3715883 c.2163G>A p.L721L Substitution - coding silent 8:130115637-130115637 - TCGA-E9-A1R2-01 COSM1489001 c.403C>G p.L135V Substitution - Missense 8:130214558-130214558 - I2L-P7-Tumor-Organoid COSM5358967 c.2401G>T p.G801C Substitution - Missense 8:130112094-130112094 - TCGA-G4-6309-01 COSM1454840 c.1009G>A p.G337R Substitution - Missense 8:130159865-130159865 - CSCC-40-T COSM4569154 c.1553T>A p.I518N Substitution - Missense 8:130124067-130124067 - Pat_30_A COSM5873914 c.1422T>G p.C474W Substitution - Missense 8:130126049-130126049 - TCGA-EJ-5519-01 COSM1132845 c.222G>C p.V74V Substitution - coding silent 8:130236959-130236959 - HX24T COSM3663561 c.334C>T p.P112S Substitution - Missense 8:130214627-130214627 - SW403 COSM4365204 c.2322C>A p.I774I Substitution - coding silent 8:130112173-130112173 - SNU-C4 COSM4654323 c.2518G>A p.D840N Substitution - Missense 8:130092027-130092027 - HCC36T COSM1623599 c.356T>A p.V119D Substitution - Missense 8:130214605-130214605 - BD227T COSM5517981 c.1427A>G p.E476G Substitution - Missense 8:130126044-130126044 - LUAD-YINHD COSM351723 c.2697G>A p.Q899Q Substitution - coding silent 8:130076352-130076352 - 2492701 COSM5716081 c.600A>G p.G200G Substitution - coding silent 8:130180811-130180811 - PD9064a COSM5775849 c.770C>G p.T257R Substitution - Missense 8:130169044-130169044 - TCGA-AX-A0J0-01 COSM1096083 c.2755G>A p.E919K Substitution - Missense 8:130061016-130061016 - J33_T COSM3951286 c.1499G>A p.G500E Substitution - Missense 8:130125972-130125972 - 587226 COSM1183703 c.1093C>T p.P365S Substitution - Missense 8:130137026-130137026 - YUAKER COSM1700621 c.2096C>T p.P699L Substitution - Missense 8:130115704-130115704 - RMH002-R3 COSM4411172 c.1357A>T p.I453F Substitution - Missense 8:130127951-130127951 - MO_1012 COSM3720636 c.59G>A p.R20Q Substitution - Missense 8:130401885-130401885 - TCGA-22-4599-01 COSM749386 c.359A>C p.K120T Substitution - Missense 8:130214602-130214602 - TCGA-IR-A3LK-01 COSM4816959 c.190C>T p.L64L Substitution - coding silent 8:130236991-130236991 - C089 COSM5542617 c.85G>T p.E29* Substitution - Nonsense 8:130358118-130358118 - Gp2D COSM3317237 c.2195G>A p.R732H Substitution - Missense 8:130112300-130112300 - TCGA-06-0166-01 COSM3412753 c.2245G>C p.D749H Substitution - Missense 8:130112250-130112250 - TCGA-AP-A059-01 COSM1096099 c.472G>A p.V158I Substitution - Missense 8:130188117-130188117 - AOCS-137-3-7 COSM4150526 c.1887C>A p.N629K Substitution - Missense 8:130116989-130116989 - LUAD-F00018 COSM339241 c.2964C>T p.D988D Substitution - coding silent 8:130060807-130060807 - TCGA-B5-A11N-01 COSM1096079 c.3327C>T p.I1109I Substitution - coding silent 8:130054794-130054794 - CSCC-31-T COSM4487277 c.3164C>T p.P1055L Substitution - Missense 8:130060607-130060607 - TCGA-70-6722-01 COSM749393 c.1771G>T p.E591* Substitution - Nonsense 8:130118512-130118512 - Gp5D COSM3317214 c.3287T>A p.V1096D Substitution - Missense 8:130057982-130057982 - LS174T COSM3317231 c.2496C>T p.P832P Substitution - coding silent 8:130092049-130092049 - TCGA-CD-A4MI-01 COSM454016 c.994C>T p.L332L Substitution - coding silent 8:130159880-130159880 - 039-0076-01TD COSM146160 c.187-2A>T p.? Unknown 8:130236996-130236996 - TCGA-CG-4442-01 COSM3896755 c.2291G>A p.R764Q Substitution - Missense 8:130112204-130112204 - TCGA-FW-A3TU-06 COSM3645060 c.1297A>T p.S433C Substitution - Missense 8:130128011-130128011 - TCGA-B0-4811-01 COSM486081 c.1524G>C p.K508N Substitution - Missense 8:130124096-130124096 - TCGA-AA-3713-01 COSM1454841 c.903G>C p.Q301H Substitution - Missense 8:130167542-130167542 - TCGA-CC-5258-01 COSM4933410 c.1080+1G>A p.? Unknown 8:130152735-130152735 - RMH002-R6 COSM4411172 c.1357A>T p.I453F Substitution - Missense 8:130127951-130127951 - TCGA-BR-4184-01 COSM3896754 c.2412C>T p.G804G Substitution - coding silent 8:130092133-130092133 - TCGA-DK-A3WW-01 COSM3778903 c.2766G>A p.Q922Q Substitution - coding silent 8:130061005-130061005 - 526LT COSM150541 c.2182A>G p.I728V Substitution - Missense 8:130112313-130112313 - TCGA-BR-A4QL-01 COSM3896760 c.1101G>A p.K367K Substitution - coding silent 8:130137018-130137018 - STC252 COSM5062885 c.1919T>G p.V640G Substitution - Missense 8:130116957-130116957 - TCGA-EE-A3JD-06 COSM4394765 c.2516C>T p.S839F Substitution - Missense 8:130092029-130092029 - T368 COSM1733137 c.2375delC p.P792fs*20 Deletion - Frameshift 8:130112120-130112120 - 9227_T COSM5042452 c.2542G>A p.G848R Substitution - Missense 8:130092003-130092003 - TCGA-24-1417-01 COSM118051 c.784A>T p.K262* Substitution - Nonsense 8:130169030-130169030 - Gp5D COSM3317237 c.2195G>A p.R732H Substitution - Missense 8:130112300-130112300 - TCGA-BR-7717-01 COSM3896750 c.2950C>G p.P984A Substitution - Missense 8:130060821-130060821 - Gp2D COSM3317214 c.3287T>A p.V1096D Substitution - Missense 8:130057982-130057982 - TCGA-BR-4184-01 COSM3896753 c.2639C>T p.S880L Substitution - Missense 8:130079905-130079905 - HCT15 COSM3317278 c.497T>A p.F166Y Substitution - Missense 8:130187269-130187269 - TCGA-BP-4326-01 COSM3367198 c.1870G>T p.V624L Substitution - Missense 8:130118171-130118171 - TCGA-CG-4442-01 COSM3896765 c.346A>G p.T116A Substitution - Missense 8:130214615-130214615 - CSCC-31-T COSM1454837 c.2128C>T p.R710* Substitution - Nonsense 8:130115672-130115672 - TCGA-A8-A09Z-01 COSM3834050 c.2701G>A p.V901M Substitution - Missense 8:130076348-130076348 - TCGA-EE-A3J8-06 COSM3645055 c.2536C>T p.P846S Substitution - Missense 8:130092009-130092009 - J73_T COSM3951285 c.2377C>G p.L793V Substitution - Missense 8:130112118-130112118 - TCGA-HU-A4GU-01 COSM3896764 c.351G>A p.A117A Substitution - coding silent 8:130214610-130214610 - SA097 COSM213652 c.1081-1G>A p.? Unknown 8:130137039-130137039 - LUAD-QY22Z COSM394845 c.1881-1G>T p.? Unknown 8:130116996-130116996 - TCGA-D1-A16X-01 COSM1096094 c.1151C>A p.S384Y Substitution - Missense 8:130136968-130136968 - Pat_41_B COSM5873912 c.3193-1G>A p.? Unknown 8:130058077-130058077 - TCGA-37-3783-01 COSM749390 c.1175G>C p.R392T Substitution - Missense 8:130134338-130134338 - 2250202 COSM5030327 c.2194C>T p.R732C Substitution - Missense 8:130112301-130112301 - 2492703 COSM5716081 c.600A>G p.G200G Substitution - coding silent 8:130180811-130180811 - PCSI_0083_Pa_P_526 COSM486080 c.2363C>T p.T788M Substitution - Missense 8:130112132-130112132 - 2492729 COSM5727647 c.1880+1G>A p.? Unknown 8:130118160-130118160 - TCGA-D1-A17Q-01 COSM1096100 c.297T>C p.L99L Substitution - coding silent 8:130214664-130214664 - 292_T COSM3951283 c.3189T>C p.N1063N Substitution - coding silent 8:130060582-130060582 - LUAD-RT-S01774 COSM381669 c.3209G>T p.R1070M Substitution - Missense 8:130058060-130058060 - 587294 COSM223308 c.38C>T p.S13L Substitution - Missense 8:130401906-130401906 - TCGA-AD-6901-01 COSM749392 c.1555A>G p.M519V Substitution - Missense 8:130124065-130124065 - TCGA-BW-A5NP-01 COSM4942669 c.803T>G p.L268R Substitution - Missense 8:130169011-130169011 - TCGA-AA-3972-01 COSM297266 c.2526C>A p.P842P Substitution - coding silent 8:130092019-130092019 - HCT8 COSM3317278 c.497T>A p.F166Y Substitution - Missense 8:130187269-130187269 - TCGA-CS-6186-01 COSM3929379 c.1093C>A p.P365T Substitution - Missense 8:130137026-130137026 - TCGA-D9-A6EC-06 COSM4402059 c.2894A>C p.K965T Substitution - Missense 8:130060877-130060877 - sysucc-1317T COSM3317268 c.1010+3A>G p.? Unknown 8:130159861-130159861 - TCGA-FW-A3R5-06 COSM3924627 c.3131C>T p.S1044F Substitution - Missense 8:130060640-130060640 - TCGA-B8-4153-01 COSM486078 c.2838_2839GG>CC p.L946>? Complex 8:130060932-130060933 - 32T COSM3715883 c.2163G>A p.L721L Substitution - coding silent 8:130115637-130115637 - Capan-1 COSM327996 c.823-6delT p.? Unknown 8:130167628-130167628 - TCGA-D3-A2JK-06 COSM171589 c.2325C>T p.F775F Substitution - coding silent 8:130112170-130112170 - PT36 COSM5915757 c.59+7G>A p.? Unknown 8:130401878-130401878 - TCGA-F4-6459-01 COSM1454838 c.2073G>C p.Q691H Substitution - Missense 8:130115727-130115727 - TCGA-HU-A4GX-01 COSM3896746 c.3259A>G p.T1087A Substitution - Missense 8:130058010-130058010 - OSCC-GB_00660111 COSM4888778 c.1373G>T p.G458V Substitution - Missense 8:130127935-130127935 - TCGA-13-0755-01 COSM80887 c.2994G>C p.L998L Substitution - coding silent 8:130060777-130060777 - SS6003121 COSM3983716 c.271A>T p.N91Y Substitution - Missense 8:130214690-130214690 - Pat_30_B COSM5873914 c.1422T>G p.C474W Substitution - Missense 8:130126049-130126049 - TCGA-B5-A0JY-01 COSM1096092 c.1266C>A p.A422A Substitution - coding silent 8:130128042-130128042 - TCGA-B5-A0K9-01 COSM1096084 c.2560G>A p.A854T Substitution - Missense 8:130091985-130091985 - TCGA-AC-A23H-01 COSM3834055 c.489G>C p.K163N Substitution - Missense 8:130187277-130187277 - TCGA-AP-A0LM-01 COSM1096080 c.3165C>T p.P1055P Substitution - coding silent 8:130060606-130060606 - 180T COSM1726269 c.1475A>T p.Q492L Substitution - Missense 8:130125996-130125996 - TCGA-G4-6588-01 COSM1454834 c.3104C>T p.A1035V Substitution - Missense 8:130060667-130060667 - CSCC-40-T COSM1183706 c.350C>T p.A117V Substitution - Missense 8:130214611-130214611 - TCGA-G2-A2EO-01 COSM1313715 c.432C>T p.I144I Substitution - coding silent 8:130188157-130188157 - STC232 COSM3317242 c.2101G>A p.V701I Substitution - Missense 8:130115699-130115699 - AOCS-137-1-X COSM4150526 c.1887C>A p.N629K Substitution - Missense 8:130116989-130116989 - ZZUFHECRKL-G033T COSM327996 c.823-6delT p.? Unknown 8:130167628-130167628 - LP2000331-DNA_A01 COSM5952497 c.1008C>T p.D336D Substitution - coding silent 8:130159866-130159866 - I2L-P24Ta-Tumor-Organoid COSM5358822 c.3162G>A p.T1054T Substitution - coding silent 8:130060609-130060609 - TCGA-CG-5733-01 COSM3896758 c.1652G>T p.R551M Substitution - Missense 8:130118631-130118631 - AOCS-093-3-6 COSM4150525 c.1934G>C p.S645T Substitution - Missense 8:130116942-130116942 - YUKAT COSM5408814 c.2642G>A p.S881N Substitution - Missense 8:130079902-130079902 - TCGA-28-2502-01 COSM3412754 c.1271G>A p.R424H Substitution - Missense 8:130128037-130128037 - TCGA-CG-4304-01 COSM3896752 c.2693C>A p.P898H Substitution - Missense 8:130076356-130076356 - I2L-P11-Tumor-Biopsy COSM1454840 c.1009G>A p.G337R Substitution - Missense 8:130159865-130159865 - LUAD-S01302 COSM396277 c.1845A>G p.T615T Substitution - coding silent 8:130118196-130118196 - TCGA-AA-A010-01 COSM278994 c.2625A>G p.G875G Substitution - coding silent 8:130079919-130079919 - S00936 COSM309297 c.314delA p.N105fs*3 Deletion - Frameshift 8:130214647-130214647 - TCGA-LQ-A4E4-01 COSM3834053 c.1148A>G p.K383R Substitution - Missense 8:130136971-130136971 - TCGA-24-1436-01 COSM80888 c.2397G>C p.G799G Substitution - coding silent 8:130112098-130112098 - ESCC_79 COSM5650048 c.2734_2735insTA p.D912fs*76 Insertion - Frameshift 8:130061036-130061037 - TCGA-EE-A2MD-06 COSM3645058 c.2202C>T p.P734P Substitution - coding silent 8:130112293-130112293 - 19M COSM5578070 c.754C>T p.Q252* Substitution - Nonsense 8:130169060-130169060 - pfg122T COSM4747883 c.1155delT p.F385fs*3 Deletion - Frameshift 8:130136964-130136964 - AOCS-064-3-3 COSM4150527 c.1191G>A p.Q397Q Substitution - coding silent 8:130134322-130134322 - DN14043 COSM5961933 c.2081C>G p.S694C Substitution - Missense 8:130115719-130115719 - Pat_16_A COSM5873913 c.2684C>T p.P895L Substitution - Missense 8:130076365-130076365 - 1_PRE-TREATMENT COSM1718097 c.1251G>A p.E417E Substitution - coding silent 8:130128057-130128057 - 587342 COSM1183705 c.3091C>T p.Q1031* Substitution - Nonsense 8:130060680-130060680 - TCGA-24-0979-01 COSM69727 c.2159A>G p.D720G Substitution - Missense 8:130115641-130115641 - TCGA-25-1632-01 COSM116543 c.1035G>T p.R345S Substitution - Missense 8:130152781-130152781 - SC_9008 COSM454016 c.994C>T p.L332L Substitution - coding silent 8:130159880-130159880 - TCGA-CD-A4MI-01 COSM3317257 c.1365C>T p.C455C Substitution - coding silent 8:130127943-130127943 - TCGA-63-6202-01 COSM749391 c.1518G>T p.L506L Substitution - coding silent 8:130124102-130124102 - ESCC_13 COSM5625370 c.3G>A p.M1I Substitution - Missense 8:130401941-130401941 - TCGA-A8-A09I-01 COSM454017 c.727T>G p.Y243D Substitution - Missense 8:130179283-130179283 - TCGA-AC-A23H-01 COSM3834051 c.2365G>A p.E789K Substitution - Missense 8:130112130-130112130 - TCGA-EX-A1H6-01 COSM4848967 c.2143G>C p.D715H Substitution - Missense 8:130115657-130115657 - 1423-01-01TD COSM5417110 c.1168+3G>A p.? Unknown 8:130136948-130136948 - 3402_T COSM3951284 c.2987G>A p.G996E Substitution - Missense 8:130060784-130060784 - TCGA-CM-5861-01 COSM1454839 c.1227A>G p.S409S Substitution - coding silent 8:130128081-130128081 - TCGA-EE-A3AE-06 COSM1096088 c.2095C>T p.P699S Substitution - Missense 8:130115705-130115705 - 1_RESISTANT COSM1718097 c.1251G>A p.E417E Substitution - coding silent 8:130128057-130128057 - TCGA-EE-A2MR-06 COSM3645057 c.2464C>T p.L822L Substitution - coding silent 8:130092081-130092081 - TCGA-BG-A0LX-01 COSM1096086 c.2558G>A p.G853D Substitution - Missense 8:130091987-130091987 - TCGA-EE-A181-06 COSM3645056 c.2486C>T p.P829L Substitution - Missense 8:130092059-130092059 - RMH002-R7 COSM4411172 c.1357A>T p.I453F Substitution - Missense 8:130127951-130127951 - PD18247a COSM4848967 c.2143G>C p.D715H Substitution - Missense 8:130115657-130115657 - I2L-P24Ta-Tumor-Biopsy COSM5358822 c.3162G>A p.T1054T Substitution - coding silent 8:130060609-130060609 - TCGA-D8-A1JA-01 COSM3834052 c.1705G>A p.E569K Substitution - Missense 8:130118578-130118578 - TCGA-BR-6452-01 COSM3896763 c.966A>G p.E322E Substitution - coding silent 8:130159908-130159908 - TCGA-CG-4442-01 COSM3896762 c.968A>G p.Y323C Substitution - Missense 8:130159906-130159906 - TCGA-DG-A2KK-01 COSM4828401 c.417G>A p.L139L Substitution - coding silent 8:130188172-130188172 - 587342 COSM1183706 c.350C>T p.A117V Substitution - Missense 8:130214611-130214611 - 039 COSM146160 c.187-2A>T p.? Unknown 8:130236996-130236996 - T3058 COSM4663588 c.3136G>A p.D1046N Substitution - Missense 8:130060635-130060635 - BD236T COSM278995 c.2100C>T p.H700H Substitution - coding silent 8:130115700-130115700 - TCGA-BH-A2L8-01 COSM3834054 c.903G>A p.Q301Q Substitution - coding silent 8:130167542-130167542 - TCGA-AA-A010-01 COSM278995 c.2100C>T p.H700H Substitution - coding silent 8:130115700-130115700 - TCGA-EE-A2GI-06 COSM3645054 c.2567C>T p.P856L Substitution - Missense 8:130091978-130091978 - TCGA-BR-8680-01 COSM3896751 c.2840C>T p.A947V Substitution - Missense 8:130060931-130060931 - LC_C26 COSM1187616 c.1505C>T p.S502F Substitution - Missense 8:130125966-130125966 - B80-Tumor COSM4006843 c.2070C>G p.S690S Substitution - coding silent 8:130115730-130115730 - S00943 COSM309298 c.1997-2A>T p.? Unknown 8:130116747-130116747 - pfg008T COSM1643505 c.1169-7_1169-6insT p.? Unknown 8:130134350-130134351 - T3262 COSM4663587 c.3305A>G p.Q1102R Substitution - Missense 8:130057964-130057964 - I2L-P24Tb-Tumor-Biopsy COSM5358822 c.3162G>A p.T1054T Substitution - coding silent 8:130060609-130060609 - GC8_T COSM150541 c.2182A>G p.I728V Substitution - Missense 8:130112313-130112313 - HCC36 COSM1623599 c.356T>A p.V119D Substitution - Missense 8:130214605-130214605 - ATL065 COSM5710851 c.2842C>T p.P948S Substitution - Missense 8:130060929-130060929 - TCGA-BR-7707-01 COSM3896756 c.2255C>T p.A752V Substitution - Missense 8:130112240-130112240 - TCGA-FU-A3HY-01 COSM4838652 c.2921A>G p.K974R Substitution - Missense 8:130060850-130060850 - TCGA-EE-A182-06 COSM3645061 c.884C>T p.S295F Substitution - Missense 8:130167561-130167561 - TCGA-CJ-5681-01 COSM486082 c.1177A>G p.T393A Substitution - Missense 8:130134336-130134336 - SNUH_G45_S1 COSM3982395 c.1382-9T>G p.? Unknown 8:130126098-130126098 - TCGA-BJ-A0ZB-01 COSM3374772 c.3340G>A p.E1114K Substitution - Missense 8:130054781-130054781 - 40 COSM4945222 c.361T>C p.F121L Substitution - Missense 8:130214600-130214600 - PCSI_0083_Pa_X COSM486080 c.2363C>T p.T788M Substitution - Missense 8:130112132-130112132 - T3064 COSM4663589 c.2628A>G p.L876L Substitution - coding silent 8:130079916-130079916 - TCGA-D1-A17F-01 COSM1096097 c.714G>T p.Q238H Substitution - Missense 8:130179296-130179296 - 3N29-VS-3T29 COSM4980515 c.530+1G>T p.? Unknown 8:130187235-130187235 - TCGA-BR-4368-01 COSM3896749 c.3103G>A p.A1035T Substitution - Missense 8:130060668-130060668 - TCGA-D1-A103-01 COSM1096088 c.2095C>T p.P699S Substitution - Missense 8:130115705-130115705 - TCGA-39-5036-01 COSM749392 c.1555A>G p.M519V Substitution - Missense 8:130124065-130124065 - PD4127a COSM159210 c.1705G>C p.E569Q Substitution - Missense 8:130118578-130118578 - 2492702 COSM5716081 c.600A>G p.G200G Substitution - coding silent 8:130180811-130180811 - GC_307T-GC_307N COSM4771693 c.348C>T p.T116T Substitution - coding silent 8:130214613-130214613 - TCGA-G2-A3VY-01 COSM3317262 c.1218-1G>A p.? Unknown 8:130128091-130128091 - DLD1 COSM3317278 c.497T>A p.F166Y Substitution - Missense 8:130187269-130187269 - LS180 COSM3317231 c.2496C>T p.P832P Substitution - coding silent 8:130092049-130092049 - PD13298a COSM5776622 c.2121G>C p.W707C Substitution - Missense 8:130115679-130115679 - TCGA-B5-A0JY-01 COSM223308 c.38C>T p.S13L Substitution - Missense 8:130401906-130401906 - PCSI_0590_Pa_P_526 COSM5760855 c.356T>G p.V119G Substitution - Missense 8:130214605-130214605 - TCGA-AA-A00N-01 COSM223308 c.38C>T p.S13L Substitution - Missense 8:130401906-130401906 - TCGA-AP-A0LM-01 COSM1096101 c.251C>A p.S84Y Substitution - Missense 8:130236930-130236930 - BK0074 COSM4188617 c.2569T>C p.W857R Substitution - Missense 8:130091976-130091976 - CSCC-27-T COSM4565691 c.2404_2405CC>TT p.P802L Substitution - Missense 8:130092140-130092141 - LP6005690-DNA_D01 COSM4966239 c.1135G>T p.A379S Substitution - Missense 8:130136984-130136984 - ACINAR03 COSM1733137 c.2375delC p.P792fs*20 Deletion - Frameshift 8:130112120-130112120 - ME009T COSM223307 c.1786C>T p.P596S Substitution - Missense 8:130118497-130118497 - TCGA-BR-4368-01 COSM3896766 c.130T>C p.S44P Substitution - Missense 8:130358073-130358073 - S02273 COSM5682225 c.29G>A p.S10N Substitution - Missense 8:130401915-130401915 - TCGA-AP-A051-01 COSM1096095 c.732C>T p.Y244Y Substitution - coding silent 8:130179278-130179278 - ME009T COSM223308 c.38C>T p.S13L Substitution - Missense 8:130401906-130401906 - TCGA-HU-A4H5-01 COSM3896759 c.1192G>T p.A398S Substitution - Missense 8:130134321-130134321 - TCGA-B5-A11E-01 COSM1096090 c.1512C>A p.L504L Substitution - coding silent 8:130125959-130125959 - C004 COSM5521532 c.612G>A p.A204A Substitution - coding silent 8:130180799-130180799 - TCGA-F5-6814-01 COSM3432113 c.1745T>G p.V582G Substitution - Missense 8:130118538-130118538 - S02350 COSM5694884 c.2183T>A p.I728N Substitution - Missense 8:130112312-130112312 - 2P3 COSM3733692 c.43G>T p.D15Y Substitution - Missense 8:130401901-130401901 - TCGA-HT-7605-01 COSM3929380 c.137T>G p.F46C Substitution - Missense 8:130358066-130358066 - 587234 COSM1183707 c.632G>T p.R211M Substitution - Missense 8:130180779-130180779 - HT115 COSM3317240 c.2125C>A p.L709I Substitution - Missense 8:130115675-130115675 - ESCC_11 COSM604166 c.2291G>T p.R764L Substitution - Missense 8:130112204-130112204 - TCGA-B6-A0IJ-01 COSM454016 c.994C>T p.L332L Substitution - coding silent 8:130159880-130159880 - TCGA-CG-5733-01 COSM3896761 c.1043C>T p.S348L Substitution - Missense 8:130152773-130152773 - T1743 COSM1454837 c.2128C>T p.R710* Substitution - Nonsense 8:130115672-130115672 - 039-0076-01TD COSM146160 c.187-2A>T p.? Unknown 8:130236996-130236996 - TCGA-D1-A16N-01 COSM1096082 c.3119C>A p.A1040E Substitution - Missense 8:130060652-130060652 - TCGA-BR-8382-01 COSM3896747 c.3192G>A p.T1064T Substitution - coding silent 8:130060579-130060579 - LC_C13 COSM1187615 c.2750C>T p.P917L Substitution - Missense 8:130061021-130061021 - TCGA-CA-6718-01 COSM1454837 c.2128C>T p.R710* Substitution - Nonsense 8:130115672-130115672 - TCGA-AO-A0J4-01 COSM454015 c.1311G>C p.L437L Substitution - coding silent 8:130127997-130127997 - 2492700 COSM5716081 c.600A>G p.G200G Substitution - coding silent 8:130180811-130180811 - TCGA-BR-4371-01 COSM3896757 c.1902G>A p.T634T Substitution - coding silent 8:130116974-130116974 - TCGA-FV-A496-01 COSM4939179 c.2520C>A p.D840E Substitution - Missense 8:130092025-130092025 - TCGA-AX-A05Z-01 COSM1096089 c.1701G>C p.L567F Substitution - Missense 8:130118582-130118582 - Pat_16_B COSM5873913 c.2684C>T p.P895L Substitution - Missense 8:130076365-130076365 - TCGA-A5-A0GW-01 COSM1096093 c.1157A>G p.D386G Substitution - Missense 8:130136962-130136962 - ME029T COSM226642 c.1852C>T p.H618Y Substitution - Missense 8:130118189-130118189 - H_0202B_GD COSM3720636 c.59G>A p.R20Q Substitution - Missense 8:130401885-130401885 - PCSI_0590_Pa_P_526 COSM5760889 c.357C>T p.V119V Substitution - coding silent 8:130214604-130214604 - TCGA-AA-3860-01 COSM295940 c.2868G>A p.P956P Substitution - coding silent 8:130060903-130060903 - CSCC-27-T COSM3645054 c.2567C>T p.P856L Substitution - Missense 8:130091978-130091978 - TCGA-AG-3892-01 COSM256351 c.2931C>A p.L977L Substitution - coding silent 8:130060840-130060840 - TCGA-D3-A2JH-06 COSM3645059 c.1472T>A p.I491N Substitution - Missense 8:130125999-130125999 - TCGA-JX-A3Q0-01 COSM4824717 c.2680C>T p.L894F Substitution - Missense 8:130076369-130076369 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655549;Hs.655550;Hs.655551;Hs.655552 8q24.1-q24.2 605953

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - IntronicDeletion . c.260-15_260-13delCTT 8 131226960 ESCA - ACCC IntronicInsertion . c.260-2848_260-2847insGGTG 8 131229795 CLL A C Missense p.F46C c.137T>G 8 131370312 LGG A C Missense p.Y243D c.727T>G 8 131191529 BRCA A G Missense p.S44P c.130T>C 8 131370319 STAD - A IntronicInsertion . c.1169-8dupT 8 131146599 STAD A T Missense p.F11L c.33T>A 8 131414157 LUAD A T Missense p.I491N c.1472T>A 8 131138245 CM A T Missense p.V74E c.221T>A 8 131249206 HNSC C A Missense p.D436Y c.1306G>T 8 131140248 UCEC C A Missense p.D613Y c.1837G>T 8 131130450 LUSC C A Missense p.G192W c.574G>T 8 131193083 LUAD C A Missense p.G853C c.2557G>T 8 131104234 LUAD C A Missense p.R345S c.1035G>T 8 131165027 OV C A Missense p.R551M c.1652G>T 8 131130877 STAD C A Missense p.R551S c.1653G>T 8 131130876 LUAD C A Missense p.R574S c.1722G>T 8 131130807 HNSC C A Missense p.V624L c.1870G>T 8 131130417 RCCC C A Missense p.V640F c.1918G>T 8 131129204 HNSC C A Missense p.W1104C c.3312G>T 8 131070203 HNSC C A Nonsense p.E541* c.1621G>T 8 131130908 LUAD C A Nonsense p.E591* c.1771G>T 8 131130758 LUSC C A Synonymous p.L506L c.1518G>T 8 131136348 LUSC C A Synonymous p.S12S c.36G>T 8 131414154 GBM CG AT Missense p.R290I c.868_869delinsAT 8 131179822 CM C G Missense p.A507P c.1519G>C 8 131136347 LUAD C G Missense p.A947P c.2839G>C 8 131073178 RCCC C G Missense p.D386H c.1156G>C 8 131149209 HNSC C G Missense p.D749H c.2245G>C 8 131124496 GBM C G Missense p.E569Q c.1705G>C 8 131130824 BRCA C G Missense p.K508N c.1524G>C 8 131136342 RCCC C G Missense p.R392T c.1175G>C 8 131146584 LUSC C G Synonymous p.G799G c.2397G>C 8 131124344 OV C G Synonymous p.L437L c.1311G>C 8 131140243 BRCA C G Synonymous p.L946L c.2838G>C 8 131073179 RCCC C G Synonymous p.L998L c.2994G>C 8 131073023 OV C G Synonymous p.V74V c.222G>C 8 131249205 PRAD C T Missense p.A1035T c.3103G>A 8 131072914 STAD C T Missense p.A854T c.2560G>A 8 131104231 UCEC C T Missense p.E1114K c.3340G>A 8 131067027 THCA C T Missense p.R424H c.1271G>A 8 131140283 GBM C T Missense p.R710Q c.2129G>A 8 131127917 HNSC C T Missense p.V1096I c.3286G>A 8 131070229 COREAD C T SpliceAcceptorSNV . c.1081-1G>A 8 131149285 BRCA C T Synonymous p.P956P c.2868G>A 8 131073149 COREAD C T Synonymous p.T634T c.1902G>A 8 131129220 STAD G A 3-UTRSNV . c.3387+582C>T 8 131066398 HC G A IntronicSNV . c.187-16C>T 8 131249256 STAD G A Missense p.H1125Y c.3373C>T 8 131066994 CM G A Missense p.H618Y c.1852C>T 8 131130435 BLCA G A Missense p.H618Y c.1852C>T 8 131130435 CM G A Missense p.H847Y c.2539C>T 8 131104252 LUAD G A Missense p.P596S c.1786C>T 8 131130743 CM G A Missense p.P699S c.2095C>T 8 131127951 CM G A Missense p.P829L c.2486C>T 8 131104305 CM G A Missense p.P846S c.2536C>T 8 131104255 CM G A Missense p.P856L c.2567C>T 8 131104224 CM G A Missense p.P956S c.2866C>T 8 131073151 LUAD G A Missense p.S26F c.77C>T 8 131370372 CM G A Missense p.S295F c.884C>T 8 131179807 CM G A Missense p.S839F c.2516C>T 8 131104275 CM G A Nonsense p.Q492* c.1474C>T 8 131138243 BLCA G A Nonsense p.Q976* c.2926C>T 8 131073091 LUAD G A Synonymous p.F775F c.2325C>T 8 131124416 CM G A Synonymous p.I1062I c.3186C>T 8 131072831 CM G A Synonymous p.I144I c.432C>T 8 131200403 BLCA G A Synonymous p.I480I c.1440C>T 8 131138277 CM G A Synonymous p.L332L c.994C>T 8 131172126 BRCA G A Synonymous p.P734P c.2202C>T 8 131124539 CM G C Missense p.L135V c.403C>G 8 131226804 BRCA GG TT Missense p.Q279K c.834_835delinsAA 8 131179856 CM G T IntronicSNV . c.187-42178C>A 8 131291418 CLL G T Missense p.P365T c.1093C>A 8 131149272 LGG G T Missense p.P898H c.2693C>A 8 131088602 STAD G T Synonymous p.P842P c.2526C>A 8 131104265 COREAD T A IntronicSNV . c.1217+2334A>T 8 131144208 CLL T A IntronicSNV . c.60-16838A>T 8 131387227 CLL T A Missense p.D723V c.2168A>T 8 131127878 HNSC T A Nonsense p.K262* c.784A>T 8 131181276 OV T A Nonsense p.K294* c.880A>T 8 131179811 COREAD T A SpliceAcceptorSNV . c.1997-2A>T 8 131128993 SCLC T C IntronicSNV . c.187-17814A>G 8 131267054 CLL T C IntronicSNV . c.2701+811A>G 8 131087783 CLL T C Missense p.D386G c.1157A>G 8 131149208 UCEC T C Missense p.D720G c.2159A>G 8 131127887 OV T C Missense p.K439E c.1315A>G 8 131140239 LUAD T C Missense p.M519V c.1555A>G 8 131136311 LUSC T C Missense p.N708D c.2122A>G 8 131127924 HNSC T C Missense p.Y173C c.518A>G 8 131199494 LUAD T C Missense p.Y323C c.968A>G 8 131172152 HNSC T C Missense p.Y542C c.1625A>G 8 131130904 LUAD T C Synonymous p.G937G c.2811A>G 8 131073206 OV T C Synonymous p.S978S c.2934A>G 8 131073083 COREAD T C Synonymous p.T906T c.2718A>G 8 131073299 HNSC T - Frameshift p.N105Ifs*3 c.314delA 8 131226893 SCLC T G IntronicSNV . c.2401+9687A>C 8 131114653 PIA T G Missense p.D549A c.1646A>C 8 131130883 HNSC T G Missense p.K120T c.359A>C 8 131226848 LUSC T G Missense p.Q625H c.1875A>C 8 131130412 HNSC T - IntronicDeletion . c.405+2790delA 8 131224012 CM