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 7 135082955 135082955 + Missense_Mutation SNP G G C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr7:135082955G>C c.845C>G c.(844-846)tCt>tGt p.S282C BLCA 7 135078988 135078988 + Missense_Mutation SNP G G C TCGA-FD-A5BV-01A-11D-A26M-08 TCGA-FD-A5BV-10A-01D-A26K-08 g.chr7:135078988G>C c.1309C>G c.(1309-1311)Cag>Gag p.Q437E BLCA 7 135095290 135095290 + Missense_Mutation SNP C C A TCGA-DK-AA6M-01A-11D-A391-08 TCGA-DK-AA6M-10A-01D-A394-08 g.chr7:135095290C>A c.796G>T c.(796-798)Gtg>Ttg p.V266L BLCA 7 135099129 135099129 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr7:135099129C>G c.512G>C c.(511-513)aGa>aCa p.R171T BLCA 7 135099985 135099985 + Silent SNP C C T TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr7:135099985C>T c.399G>A c.(397-399)ggG>ggA p.G133G BLCA 7 135107051 135107051 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr7:135107051G>C c.226C>G c.(226-228)Caa>Gaa p.Q76E BLCA 7 135123034 135123034 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:135123034G>C c.46C>G c.(46-48)Ctt>Gtt p.L16V BRCA 7 135082944 135082944 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr7:135082944C>A c.856G>T c.(856-858)Ggg>Tgg p.G286W BRCA 7 135100012 135100012 + Splice_Site SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr7:135100012C>A c.e4-1 COAD 7 135047716 135047716 + Frame_Shift_Del DEL G G - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:135047716delG c.2054delC c.(2053-2055)ccafs p.P685fs COAD 7 135047844 135047844 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:135047844G>A c.1926C>T c.(1924-1926)gaC>gaT p.D642D COAD 7 135047877 135047877 + Nonsense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:135047877C>T c.1893G>A c.(1891-1893)tgG>tgA p.W631* COAD 7 135079001 135079001 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:135079001C>T c.1296G>A c.(1294-1296)tcG>tcA p.S432S COAD 7 135098359 135098359 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:135098359A>G c.565T>C c.(565-567)Tct>Cct p.S189P COAD 7 135099136 135099136 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:135099136C>T c.505G>A c.(505-507)Gct>Act p.A169T COAD 7 135099952 135099952 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:135099952A>G c.432T>C c.(430-432)aaT>aaC p.N144N COAD 7 135100001 135100001 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:135100001C>T c.383G>A c.(382-384)cGa>cAa p.R128Q COAD 7 135106961 135106961 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:135106961C>T c.316G>A c.(316-318)Gta>Ata p.V106I COAD 7 135122949 135122949 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:135122949C>T c.131G>A c.(130-132)cGa>cAa p.R44Q COADREAD 7 135047716 135047716 + Frame_Shift_Del DEL G G - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:135047716delG c.2054delC c.(2053-2055)ccafs p.P685fs COADREAD 7 135047844 135047844 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:135047844G>A c.1926C>T c.(1924-1926)gaC>gaT p.D642D COADREAD 7 135047877 135047877 + Nonsense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:135047877C>T c.1893G>A c.(1891-1893)tgG>tgA p.W631* COADREAD 7 135079001 135079001 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:135079001C>T c.1296G>A c.(1294-1296)tcG>tcA p.S432S COADREAD 7 135098359 135098359 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:135098359A>G c.565T>C c.(565-567)Tct>Cct p.S189P COADREAD 7 135099136 135099136 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:135099136C>T c.505G>A c.(505-507)Gct>Act p.A169T COADREAD 7 135099952 135099952 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:135099952A>G c.432T>C c.(430-432)aaT>aaC p.N144N COADREAD 7 135100001 135100001 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:135100001C>T c.383G>A c.(382-384)cGa>cAa p.R128Q COADREAD 7 135106961 135106961 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:135106961C>T c.316G>A c.(316-318)Gta>Ata p.V106I COADREAD 7 135122949 135122949 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:135122949C>T c.131G>A c.(130-132)cGa>cAa p.R44Q DLBC 7 135047811 135047811 + Missense_Mutation SNP G G C TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr7:135047811G>C c.1959C>G c.(1957-1959)caC>caG p.H653Q DLBC 7 135098310 135098310 + Missense_Mutation SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr7:135098310C>T c.614G>A c.(613-615)tGt>tAt p.C205Y DLBC 7 135123060 135123060 + Missense_Mutation SNP G G C TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr7:135123060G>C c.20C>G c.(19-21)gCg>gGg p.A7G DLBC 7 135123060 135123060 + Missense_Mutation SNP G G C TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr7:135123060G>C c.20C>G c.(19-21)gCg>gGg p.A7G ESCA 7 135047814 135047814 + Missense_Mutation SNP G G T TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr7:135047814G>T c.1956C>A c.(1954-1956)caC>caA p.H652Q ESCA 7 135047903 135047903 + Missense_Mutation SNP G G T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr7:135047903G>T c.1867C>A c.(1867-1869)Ctt>Att p.L623I ESCA 7 135079021 135079021 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr7:135079021G>C c.1276C>G c.(1276-1278)Caa>Gaa p.Q426E ESCA 7 135082950 135082950 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr7:135082950T>C c.850A>G c.(850-852)Agt>Ggt p.S284G GBM 7 135047676 135047676 + Frame_Shift_Del DEL G G - TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr7:135047676delG c.2094delC c.(2092-2094)cccfs p.P698fs GBM 7 135047681 135047681 + Frame_Shift_Del DEL T T - TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr7:135047681delT c.2089delA c.(2089-2091)accfs p.T697fs GBMLGG 7 135047676 135047676 + Frame_Shift_Del DEL G G - TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr7:135047676delG c.2094delC c.(2092-2094)cccfs p.P698fs GBMLGG 7 135047681 135047681 + Frame_Shift_Del DEL T T - TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chr7:135047681delT c.2089delA c.(2089-2091)accfs p.T697fs GBMLGG 7 135073582 135073582 + Silent SNP T T C TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr7:135073582T>C c.1692A>G c.(1690-1692)ggA>ggG p.G564G GBMLGG 7 135078909 135078909 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 g.chr7:135078909T>C c.1388A>G c.(1387-1389)aAt>aGt p.N463S GBMLGG 7 135078909 135078909 + Missense_Mutation SNP T T C TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 g.chr7:135078909T>C c.1388A>G c.(1387-1389)aAt>aGt p.N463S GBMLGG 7 135082964 135082964 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:135082964G>T c.836C>A c.(835-837)cCt>cAt p.P279H GBMLGG 7 135106922 135106922 + Missense_Mutation SNP G G A TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr7:135106922G>A c.355C>T c.(355-357)Cgc>Tgc p.R119C HNSC 7 135047645 135047645 + Missense_Mutation SNP G G A TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr7:135047645G>A c.2125C>T c.(2125-2127)Cgc>Tgc p.R709C HNSC 7 135078968 135078968 + Silent SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr7:135078968A>T c.1329T>A c.(1327-1329)acT>acA p.T443T HNSC 7 135080595 135080595 + Nonsense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr7:135080595G>C c.920C>G c.(919-921)tCa>tGa p.S307* HNSC 7 135098284 135098284 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr7:135098284G>A c.640C>T c.(640-642)Cat>Tat p.H214Y HNSC 7 135106925 135106925 + Nonsense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr7:135106925G>A c.352C>T c.(352-354)Cag>Tag p.Q118* HNSC 7 135106967 135106967 + Missense_Mutation SNP G G T TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chr7:135106967G>T c.310C>A c.(310-312)Cgt>Agt p.R104S HNSC 7 135123021 135123021 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:135123021G>A c.59C>T c.(58-60)cCc>cTc p.P20L KICH 7 135079031 135079031 + Silent SNP T T C TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr7:135079031T>C c.1266A>G c.(1264-1266)gaA>gaG p.E422E KIPAN 7 135078775 135078775 + Missense_Mutation SNP T T C TCGA-2Z-A9J5-01A-21D-A382-10 TCGA-2Z-A9J5-10A-01D-A385-10 g.chr7:135078775T>C c.1522A>G c.(1522-1524)Atc>Gtc p.I508V KIPAN 7 135079031 135079031 + Silent SNP T T C TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr7:135079031T>C c.1266A>G c.(1264-1266)gaA>gaG p.E422E KIPAN 7 135080392 135080392 + Missense_Mutation SNP T T C TCGA-CJ-4907-01A-01D-1429-08 TCGA-CJ-4907-11A-01D-1429-08 g.chr7:135080392T>C c.1123A>G c.(1123-1125)Aca>Gca p.T375A KIPAN 7 135095315 135095315 + Silent SNP A A T TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr7:135095315A>T c.771T>A c.(769-771)ggT>ggA p.G257G KIPAN 7 135095338 135095338 + Missense_Mutation SNP T T C TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr7:135095338T>C c.748A>G c.(748-750)Aat>Gat p.N250D KIPAN 7 135098321 135098322 + Frame_Shift_Ins INS - - TT TCGA-B2-4098-01A-02D-1386-10 TCGA-B2-4098-11A-01D-1251-10 g.chr7:135098321_135098322insTT c.602_603insAA c.(601-603)aagfs p.K201fs KIRC 7 135080392 135080392 + Missense_Mutation SNP T T C TCGA-CJ-4907-01A-01D-1429-08 TCGA-CJ-4907-11A-01D-1429-08 g.chr7:135080392T>C c.1123A>G c.(1123-1125)Aca>Gca p.T375A KIRC 7 135095315 135095315 + Silent SNP A A T TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr7:135095315A>T c.771T>A c.(769-771)ggT>ggA p.G257G KIRC 7 135098321 135098322 + Frame_Shift_Ins INS - - TT TCGA-B2-4098-01A-02D-1386-10 TCGA-B2-4098-11A-01D-1251-10 g.chr7:135098321_135098322insTT c.602_603insAA c.(601-603)aagfs p.K201fs KIRP 7 135078775 135078775 + Missense_Mutation SNP T T C TCGA-2Z-A9J5-01A-21D-A382-10 TCGA-2Z-A9J5-10A-01D-A385-10 g.chr7:135078775T>C c.1522A>G c.(1522-1524)Atc>Gtc p.I508V KIRP 7 135095338 135095338 + Missense_Mutation SNP T T C TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr7:135095338T>C c.748A>G c.(748-750)Aat>Gat p.N250D LGG 7 135073582 135073582 + Silent SNP T T C TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr7:135073582T>C c.1692A>G c.(1690-1692)ggA>ggG p.G564G LGG 7 135078909 135078909 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 g.chr7:135078909T>C c.1388A>G c.(1387-1389)aAt>aGt p.N463S LGG 7 135078909 135078909 + Missense_Mutation SNP T T C TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 g.chr7:135078909T>C c.1388A>G c.(1387-1389)aAt>aGt p.N463S LGG 7 135082964 135082964 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:135082964G>T c.836C>A c.(835-837)cCt>cAt p.P279H LGG 7 135106922 135106922 + Missense_Mutation SNP G G A TCGA-DU-A5TR-01A-11D-A289-08 TCGA-DU-A5TR-10A-01D-A289-08 g.chr7:135106922G>A c.355C>T c.(355-357)Cgc>Tgc p.R119C LIHC 7 135047915 135047915 + Missense_Mutation SNP T T C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr7:135047915T>C c.1855A>G c.(1855-1857)Agt>Ggt p.S619G LIHC 7 135080633 135080633 + Silent SNP T T A TCGA-DD-AADU-01A-11D-A40R-10 TCGA-DD-AADU-10A-01D-A40U-10 g.chr7:135080633T>A c.882A>T c.(880-882)atA>atT p.I294I LIHC 7 135095305 135095305 + Nonsense_Mutation SNP T T A TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr7:135095305T>A c.781A>T c.(781-783)Aaa>Taa p.K261* LIHC 7 135099083 135099083 + Silent SNP A A T TCGA-5R-AA1C-01A-11D-A40R-10 TCGA-5R-AA1C-10A-01D-A40U-10 g.chr7:135099083A>T c.558T>A c.(556-558)ctT>ctA p.L186L LIHC 7 135106990 135106990 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr7:135106990delT c.287delA c.(286-288)aatfs p.N96fs LIHC 7 135107050 135107050 + Missense_Mutation SNP T T C TCGA-BC-A10R-01A-11D-A12Z-10 TCGA-BC-A10R-11A-11D-A12Z-10 g.chr7:135107050T>C c.227A>G c.(226-228)cAa>cGa p.Q76R LIHC 7 135122994 135122994 + Frame_Shift_Del DEL A A - TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr7:135122994delA c.86delT c.(85-87)ttcfs p.F29fs LUAD 7 135047737 135047737 + Missense_Mutation SNP G G A TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr7:135047737G>A c.2033C>T c.(2032-2034)tCc>tTc p.S678F LUAD 7 135047791 135047791 + Missense_Mutation SNP T T C TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:135047791T>C c.1979A>G c.(1978-1980)cAg>cGg p.Q660R LUAD 7 135047834 135047834 + Missense_Mutation SNP C C T TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr7:135047834C>T c.1936G>A c.(1936-1938)Gct>Act p.A646T LUAD 7 135078972 135078972 + Missense_Mutation SNP T T G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr7:135078972T>G c.1325A>C c.(1324-1326)cAc>cCc p.H442P LUAD 7 135080502 135080502 + Nonsense_Mutation SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr7:135080502G>C c.1013C>G c.(1012-1014)tCa>tGa p.S338* LUAD 7 135095329 135095329 + Nonsense_Mutation SNP G G A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:135095329G>A c.757C>T c.(757-759)Cag>Tag p.Q253* LUAD 7 135098287 135098287 + Missense_Mutation SNP G G A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr7:135098287G>A c.637C>T c.(637-639)Ctt>Ttt p.L213F LUAD 7 135099131 135099131 + Silent SNP G G C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr7:135099131G>C c.510C>G c.(508-510)ctC>ctG p.L170L LUAD 7 135106934 135106934 + Missense_Mutation SNP C C G TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr7:135106934C>G c.343G>C c.(343-345)Ggt>Cgt p.G115R LUAD 7 135106985 135106985 + Nonsense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr7:135106985T>A c.292A>T c.(292-294)Aaa>Taa p.K98* LUSC 7 135047693 135047693 + Missense_Mutation SNP G G A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr7:135047693G>A c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S LUSC 7 135073610 135073610 + Nonsense_Mutation SNP G G T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr7:135073610G>T c.1664C>A c.(1663-1665)tCa>tAa p.S555* LUSC 7 135078671 135078671 + Splice_Site SNP T T A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr7:135078671T>A c.1626A>T c.(1624-1626)gcA>gcT p.A542A LUSC 7 135078943 135078943 + Nonsense_Mutation SNP C C A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr7:135078943C>A c.1354G>T c.(1354-1356)Gga>Tga p.G452* LUSC 7 135080421 135080421 + Missense_Mutation SNP G G A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr7:135080421G>A c.1094C>T c.(1093-1095)cCt>cTt p.P365L LUSC 7 135099078 135099078 + Splice_Site SNP A A C TCGA-66-2765-01A-01D-1522-08 TCGA-66-2765-11A-01D-1522-08 g.chr7:135099078A>C c.e5+1 PAAD 7 135047688 135047688 + Frame_Shift_Del DEL G G - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr7:135047688delG c.2082delC c.(2080-2082)cccfs p.P694fs PAAD 7 135079029 135079029 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:135079029A>G c.1268T>C c.(1267-1269)cTg>cCg p.L423P PAAD 7 135080489 135080489 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:135080489G>A c.1026C>T c.(1024-1026)cgC>cgT p.R342R PAAD 7 135095279 135095279 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:135095279C>T c.807G>A c.(805-807)ctG>ctA p.L269L PRAD 7 135106938 135106938 + Silent SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 g.chr7:135106938A>C c.339T>G c.(337-339)gtT>gtG p.V113V SARC 7 135047671 135047671 + Missense_Mutation SNP T T A TCGA-3B-A9HX-01A-11D-A38Z-09 TCGA-3B-A9HX-10A-01D-A38Z-09 g.chr7:135047671T>A c.2099A>T c.(2098-2100)gAt>gTt p.D700V SKCM 7 135047645 135047645 + Missense_Mutation SNP G G T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr7:135047645G>T c.2125C>A c.(2125-2127)Cgc>Agc p.R709S SKCM 7 135047761 135047761 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr7:135047761G>A c.2009C>T c.(2008-2010)cCc>cTc p.P670L SKCM 7 135047787 135047787 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:135047787G>A c.1983C>T c.(1981-1983)atC>atT p.I661I SKCM 7 135047860 135047860 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr7:135047860G>A c.1910C>T c.(1909-1911)gCc>gTc p.A637V SKCM 7 135047869 135047869 + Missense_Mutation SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr7:135047869G>A c.1901C>T c.(1900-1902)tCc>tTc p.S634F SKCM 7 135073606 135073606 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:135073606G>A c.1668C>T c.(1666-1668)acC>acT p.T556T SKCM 7 135078814 135078814 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:135078814C>T c.1483G>A c.(1483-1485)Gca>Aca p.A495T SKCM 7 135078815 135078815 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:135078815C>T c.1482G>A c.(1480-1482)caG>caA p.Q494Q SKCM 7 135078869 135078869 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:135078869G>A c.1428C>T c.(1426-1428)ttC>ttT p.F476F SKCM 7 135079073 135079073 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr7:135079073G>A c.1224C>T c.(1222-1224)ttC>ttT p.F408F SKCM 7 135080388 135080388 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr7:135080388G>A c.1127C>T c.(1126-1128)tCa>tTa p.S376L SKCM 7 135080575 135080575 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr7:135080575G>A c.940C>T c.(940-942)Ccc>Tcc p.P314S SKCM 7 135098321 135098321 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:135098321C>T c.603G>A c.(601-603)aaG>aaA p.K201K SKCM 7 135099147 135099147 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr7:135099147C>G c.494G>C c.(493-495)cGg>cCg p.R165P SKCM 7 135099148 135099148 + Missense_Mutation SNP G G A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr7:135099148G>A c.493C>T c.(493-495)Cgg>Tgg p.R165W

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 7 135047695 135047695 single base substitution C G downstream_gene_variant BLCA-CN 7 135047695 135047695 single base substitution C G missense_variant R621T 1862G>C BLCA-CN 7 135047695 135047695 single base substitution C G missense_variant R624T 1871G>C BLCA-CN 7 135047695 135047695 single base substitution C G missense_variant R692T 2075G>C BLCA-CN 7 135047695 135047695 single base substitution C G missense_variant R695T 2084G>C BLCA-US 7 135123034 135123034 single base substitution G C exon_variant BLCA-US 7 135123034 135123034 single base substitution G C missense_variant L16V 46C>G BOCA-FR 7 135192361 135192361 single base substitution T A intron_variant BRCA-EU 7 135041689 135041689 single base substitution T C downstream_gene_variant BRCA-EU 7 135043248 135043248 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 135043711 135043711 single base substitution G A downstream_gene_variant BRCA-EU 7 135043780 135043780 single base substitution C T downstream_gene_variant BRCA-EU 7 135044953 135044953 single base substitution G C downstream_gene_variant BRCA-EU 7 135045584 135045584 single base substitution C T downstream_gene_variant BRCA-EU 7 135045876 135045876 single base substitution T C downstream_gene_variant BRCA-EU 7 135046757 135046757 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 135046757 135046757 single base substitution A G downstream_gene_variant BRCA-EU 7 135046935 135046957 deletion of <=200bp TTTAAATCTAAAGCCAAAAAATT - 3_prime_UTR_variant BRCA-EU 7 135046935 135046957 deletion of <=200bp TTTAAATCTAAAGCCAAAAAATT - downstream_gene_variant BRCA-EU 7 135046947 135046947 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 135046947 135046947 single base substitution G T downstream_gene_variant BRCA-EU 7 135047325 135047325 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 135047325 135047325 single base substitution G A downstream_gene_variant BRCA-EU 7 135048325 135048325 single base substitution C A intron_variant BRCA-EU 7 135049020 135049020 single base substitution T A intron_variant BRCA-EU 7 135049239 135049239 single base substitution C T intron_variant BRCA-EU 7 135049378 135049378 single base substitution G A intron_variant BRCA-EU 7 135049464 135049464 single base substitution C T intron_variant BRCA-EU 7 135052248 135052248 single base substitution C T intron_variant BRCA-EU 7 135052514 135052514 single base substitution C G intron_variant BRCA-EU 7 135052570 135052570 single base substitution G C intron_variant BRCA-EU 7 135052865 135052865 single base substitution A C intron_variant BRCA-EU 7 135053162 135053162 deletion of <=200bp A - intron_variant BRCA-EU 7 135053766 135053766 insertion of <=200bp - T intron_variant BRCA-EU 7 135053925 135053925 single base substitution C T intron_variant BRCA-EU 7 135054620 135054620 single base substitution C G intron_variant BRCA-EU 7 135054744 135054744 single base substitution C G intron_variant BRCA-EU 7 135054813 135054813 single base substitution A G intron_variant BRCA-EU 7 135057926 135057926 single base substitution C A intron_variant BRCA-EU 7 135058454 135058454 single base substitution G C intron_variant BRCA-EU 7 135058454 135058454 single base substitution G T intron_variant BRCA-EU 7 135059260 135059260 single base substitution C G intron_variant BRCA-EU 7 135059631 135059631 single base substitution G T intron_variant BRCA-EU 7 135060353 135060353 deletion of <=200bp G - intron_variant BRCA-EU 7 135060732 135060732 single base substitution G C intron_variant BRCA-EU 7 135061021 135061021 single base substitution T C intron_variant BRCA-EU 7 135061474 135061474 single base substitution G C intron_variant BRCA-EU 7 135062179 135062180 deletion of <=200bp TT - intron_variant BRCA-EU 7 135063574 135063574 single base substitution G A intron_variant BRCA-EU 7 135063597 135063597 single base substitution C T intron_variant BRCA-EU 7 135064325 135064326 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 7 135064325 135064326 deletion of <=200bp TA - intron_variant BRCA-EU 7 135064891 135064891 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 135064891 135064891 deletion of <=200bp A - intron_variant BRCA-EU 7 135066109 135066109 single base substitution T G downstream_gene_variant BRCA-EU 7 135066109 135066109 single base substitution T G intron_variant BRCA-EU 7 135067339 135067339 insertion of <=200bp - AG downstream_gene_variant BRCA-EU 7 135067339 135067339 insertion of <=200bp - AG intron_variant BRCA-EU 7 135068601 135068601 single base substitution G A downstream_gene_variant BRCA-EU 7 135068601 135068601 single base substitution G A intron_variant BRCA-EU 7 135068657 135068657 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 135068657 135068657 insertion of <=200bp - T intron_variant BRCA-EU 7 135069550 135069550 single base substitution C G downstream_gene_variant BRCA-EU 7 135069550 135069550 single base substitution C G intron_variant BRCA-EU 7 135069954 135069954 single base substitution C G downstream_gene_variant BRCA-EU 7 135069954 135069954 single base substitution C G intron_variant BRCA-EU 7 135070040 135070040 single base substitution C T downstream_gene_variant BRCA-EU 7 135070040 135070040 single base substitution C T intron_variant BRCA-EU 7 135070251 135070251 single base substitution G A downstream_gene_variant BRCA-EU 7 135070251 135070251 single base substitution G A intron_variant BRCA-EU 7 135070521 135070521 single base substitution G A downstream_gene_variant BRCA-EU 7 135070521 135070521 single base substitution G A intron_variant BRCA-EU 7 135071440 135071440 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 7 135071440 135071440 deletion of <=200bp A - intron_variant BRCA-EU 7 135071806 135071806 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 135071806 135071806 single base substitution C G intron_variant BRCA-EU 7 135071957 135071957 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 135071957 135071957 single base substitution C T intron_variant BRCA-EU 7 135072697 135072697 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 135072697 135072697 single base substitution G A intron_variant BRCA-EU 7 135072697 135072697 single base substitution G A upstream_gene_variant BRCA-EU 7 135072968 135072968 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 135072968 135072968 single base substitution G C intron_variant BRCA-EU 7 135072968 135072968 single base substitution G C upstream_gene_variant BRCA-EU 7 135075005 135075005 single base substitution C G intron_variant BRCA-EU 7 135075005 135075005 single base substitution C G upstream_gene_variant BRCA-EU 7 135075200 135075200 deletion of <=200bp A - intron_variant BRCA-EU 7 135075200 135075200 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 135075375 135075375 deletion of <=200bp A - intron_variant BRCA-EU 7 135075375 135075375 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 135075375 135075375 insertion of <=200bp - A intron_variant BRCA-EU 7 135075375 135075375 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 135075555 135075555 single base substitution G T intron_variant BRCA-EU 7 135075555 135075555 single base substitution G T upstream_gene_variant BRCA-EU 7 135075982 135075982 single base substitution C T intron_variant BRCA-EU 7 135075982 135075982 single base substitution C T upstream_gene_variant BRCA-EU 7 135076213 135076213 single base substitution A C intron_variant BRCA-EU 7 135076213 135076213 single base substitution A C upstream_gene_variant BRCA-EU 7 135076287 135076287 deletion of <=200bp A - intron_variant BRCA-EU 7 135076287 135076287 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 135076499 135076499 single base substitution T C intron_variant BRCA-EU 7 135076499 135076499 single base substitution T C upstream_gene_variant BRCA-EU 7 135077543 135077543 single base substitution C T intron_variant BRCA-EU 7 135077543 135077543 single base substitution C T upstream_gene_variant BRCA-EU 7 135078630 135078630 single base substitution G C intron_variant BRCA-EU 7 135080093 135080093 single base substitution C T intron_variant BRCA-EU 7 135081388 135081388 deletion of <=200bp A - intron_variant BRCA-EU 7 135081818 135081818 single base substitution C T intron_variant BRCA-EU 7 135082340 135082340 single base substitution C G intron_variant BRCA-EU 7 135082943 135082943 single base substitution C G missense_variant G283A 848G>C BRCA-EU 7 135082943 135082943 single base substitution C G missense_variant G286A 857G>C BRCA-EU 7 135083067 135083067 single base substitution C T intron_variant BRCA-EU 7 135083152 135083152 single base substitution G C intron_variant BRCA-EU 7 135083471 135083471 deletion of <=200bp A - intron_variant BRCA-EU 7 135084862 135084862 single base substitution G A intron_variant BRCA-EU 7 135085125 135085125 single base substitution C G intron_variant BRCA-EU 7 135085217 135085217 single base substitution G A intron_variant BRCA-EU 7 135085725 135085725 single base substitution G C intron_variant BRCA-EU 7 135086069 135086069 single base substitution A C intron_variant BRCA-EU 7 135086338 135086338 single base substitution T A intron_variant BRCA-EU 7 135086339 135086339 single base substitution A T intron_variant BRCA-EU 7 135087730 135087730 single base substitution C G intron_variant BRCA-EU 7 135088604 135088604 single base substitution T C intron_variant BRCA-EU 7 135088605 135088605 single base substitution C A intron_variant BRCA-EU 7 135091497 135091497 single base substitution C G intron_variant BRCA-EU 7 135092785 135092785 deletion of <=200bp T - intron_variant BRCA-EU 7 135092822 135092822 insertion of <=200bp - A intron_variant BRCA-EU 7 135093795 135093795 single base substitution C A intron_variant BRCA-EU 7 135094633 135094633 single base substitution G C intron_variant BRCA-EU 7 135095525 135095525 single base substitution T G intron_variant BRCA-EU 7 135095598 135095598 single base substitution A G intron_variant BRCA-EU 7 135096808 135096808 deletion of <=200bp T - intron_variant BRCA-EU 7 135097218 135097218 single base substitution A T intron_variant BRCA-EU 7 135097228 135097228 deletion of <=200bp A - intron_variant BRCA-EU 7 135098575 135098575 single base substitution C G intron_variant BRCA-EU 7 135099464 135099464 single base substitution G A intron_variant BRCA-EU 7 135099789 135099789 single base substitution C A intron_variant BRCA-EU 7 135100388 135100388 single base substitution C G intron_variant BRCA-EU 7 135101245 135101245 single base substitution C G intron_variant BRCA-EU 7 135101277 135101277 single base substitution G A intron_variant BRCA-EU 7 135102863 135102863 single base substitution A C downstream_gene_variant BRCA-EU 7 135102863 135102863 single base substitution A C intron_variant BRCA-EU 7 135103042 135103042 single base substitution A C downstream_gene_variant BRCA-EU 7 135103042 135103042 single base substitution A C intron_variant BRCA-EU 7 135106089 135106089 single base substitution C A downstream_gene_variant BRCA-EU 7 135106089 135106089 single base substitution C A intron_variant BRCA-EU 7 135106097 135106097 single base substitution G T downstream_gene_variant BRCA-EU 7 135106097 135106097 single base substitution G T intron_variant BRCA-EU 7 135106826 135106826 single base substitution G C downstream_gene_variant BRCA-EU 7 135106826 135106826 single base substitution G C intron_variant BRCA-EU 7 135106913 135106913 single base substitution C T downstream_gene_variant BRCA-EU 7 135106913 135106913 single base substitution C T missense_variant D122N 364G>A BRCA-EU 7 135107242 135107242 single base substitution A T intron_variant BRCA-EU 7 135107294 135107294 single base substitution A T intron_variant BRCA-EU 7 135107456 135107456 single base substitution T C intron_variant BRCA-EU 7 135108338 135108347 multiple base substitution (>=2bp and <=200bp) TCCAAGAACC TATA intron_variant BRCA-EU 7 135109163 135109163 single base substitution A T intron_variant BRCA-EU 7 135109367 135109367 single base substitution C G intron_variant BRCA-EU 7 135109390 135109390 single base substitution T G intron_variant BRCA-EU 7 135112332 135112332 single base substitution T C intron_variant BRCA-EU 7 135113348 135113348 single base substitution G C intron_variant BRCA-EU 7 135113825 135113825 single base substitution G T intron_variant BRCA-EU 7 135114998 135114998 insertion of <=200bp - A intron_variant BRCA-EU 7 135115458 135115458 single base substitution C T intron_variant BRCA-EU 7 135116792 135116792 single base substitution T C intron_variant BRCA-EU 7 135117929 135117929 single base substitution A G intron_variant BRCA-EU 7 135118878 135118878 single base substitution T C intron_variant BRCA-EU 7 135119025 135119025 single base substitution G C intron_variant BRCA-EU 7 135120851 135120851 single base substitution G A intron_variant BRCA-EU 7 135120971 135120971 single base substitution C G intron_variant BRCA-EU 7 135121086 135121086 single base substitution A G intron_variant BRCA-EU 7 135121754 135121754 single base substitution A C intron_variant BRCA-EU 7 135121987 135121987 single base substitution G C intron_variant BRCA-EU 7 135122368 135122368 single base substitution G C intron_variant BRCA-EU 7 135124494 135124494 single base substitution C G intron_variant BRCA-EU 7 135124494 135124494 single base substitution C G upstream_gene_variant BRCA-EU 7 135124582 135124582 single base substitution A C intron_variant BRCA-EU 7 135124582 135124582 single base substitution A C upstream_gene_variant BRCA-EU 7 135124984 135124984 single base substitution A G intron_variant BRCA-EU 7 135124984 135124984 single base substitution A G upstream_gene_variant BRCA-EU 7 135125114 135125114 single base substitution A C intron_variant BRCA-EU 7 135125114 135125114 single base substitution A C upstream_gene_variant BRCA-EU 7 135125435 135125435 single base substitution C A intron_variant BRCA-EU 7 135125435 135125435 single base substitution C A upstream_gene_variant BRCA-EU 7 135126057 135126057 single base substitution G C intron_variant BRCA-EU 7 135126057 135126057 single base substitution G C upstream_gene_variant BRCA-EU 7 135126320 135126320 single base substitution A C intron_variant BRCA-EU 7 135126320 135126320 single base substitution A C upstream_gene_variant BRCA-EU 7 135127505 135127505 deletion of <=200bp A - intron_variant BRCA-EU 7 135127505 135127505 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 135128176 135128176 single base substitution T A intron_variant BRCA-EU 7 135128820 135128820 single base substitution G A intron_variant BRCA-EU 7 135129660 135129660 single base substitution G A intron_variant BRCA-EU 7 135130809 135130809 single base substitution C A intron_variant BRCA-EU 7 135130850 135130850 single base substitution G C intron_variant BRCA-EU 7 135131102 135131102 single base substitution A C intron_variant BRCA-EU 7 135131135 135131135 single base substitution T C intron_variant BRCA-EU 7 135131654 135131654 single base substitution A T intron_variant BRCA-EU 7 135132292 135132292 single base substitution T C intron_variant BRCA-EU 7 135133137 135133137 insertion of <=200bp - A intron_variant BRCA-EU 7 135134363 135134363 single base substitution G A intron_variant BRCA-EU 7 135135344 135135344 single base substitution C T intron_variant BRCA-EU 7 135135594 135135594 single base substitution G C intron_variant BRCA-EU 7 135136665 135136665 single base substitution C T intron_variant BRCA-EU 7 135137045 135137045 single base substitution G T intron_variant BRCA-EU 7 135137896 135137896 single base substitution T G intron_variant BRCA-EU 7 135138034 135138034 deletion of <=200bp T - intron_variant BRCA-EU 7 135139289 135139289 single base substitution G A intron_variant BRCA-EU 7 135139586 135139586 single base substitution C T intron_variant BRCA-EU 7 135140048 135140048 deletion of <=200bp A - intron_variant BRCA-EU 7 135140907 135140910 deletion of <=200bp AGTA - intron_variant BRCA-EU 7 135143840 135143840 single base substitution C T intron_variant BRCA-EU 7 135145175 135145175 single base substitution A G intron_variant BRCA-EU 7 135146082 135146082 single base substitution A T intron_variant BRCA-EU 7 135146813 135146813 deletion of <=200bp A - intron_variant BRCA-EU 7 135150707 135150707 single base substitution G A intron_variant BRCA-EU 7 135151371 135151371 single base substitution C T intron_variant BRCA-EU 7 135151724 135151724 single base substitution C A intron_variant BRCA-EU 7 135151918 135151920 deletion of <=200bp ATG - intron_variant BRCA-EU 7 135152746 135152746 single base substitution G A intron_variant BRCA-EU 7 135152951 135152951 single base substitution G A intron_variant BRCA-EU 7 135153040 135153040 single base substitution G A intron_variant BRCA-EU 7 135154163 135154163 single base substitution T C intron_variant BRCA-EU 7 135154885 135154885 single base substitution G T intron_variant BRCA-EU 7 135155546 135155546 single base substitution A G intron_variant BRCA-EU 7 135156275 135156275 single base substitution T A intron_variant BRCA-EU 7 135157411 135157411 single base substitution G A intron_variant BRCA-EU 7 135159111 135159111 single base substitution C T intron_variant BRCA-EU 7 135159977 135159977 single base substitution G C intron_variant BRCA-EU 7 135159989 135159989 single base substitution A T intron_variant BRCA-EU 7 135161211 135161211 single base substitution G T intron_variant BRCA-EU 7 135162157 135162157 single base substitution C T intron_variant BRCA-EU 7 135163022 135163022 single base substitution C G intron_variant BRCA-EU 7 135163241 135163241 single base substitution A C intron_variant BRCA-EU 7 135163860 135163860 insertion of <=200bp - T intron_variant BRCA-EU 7 135164460 135164460 single base substitution C T intron_variant BRCA-EU 7 135164951 135164951 single base substitution G C intron_variant BRCA-EU 7 135167898 135167898 single base substitution C G intron_variant BRCA-EU 7 135168091 135168091 single base substitution A T intron_variant BRCA-EU 7 135169323 135169323 single base substitution G C intron_variant BRCA-EU 7 135170032 135170032 single base substitution A C intron_variant BRCA-EU 7 135172149 135172149 deletion of <=200bp T - intron_variant BRCA-EU 7 135173943 135173943 single base substitution G T intron_variant BRCA-EU 7 135174382 135174382 single base substitution G A intron_variant BRCA-EU 7 135174919 135174919 single base substitution C G intron_variant BRCA-EU 7 135175004 135175004 single base substitution G A intron_variant BRCA-EU 7 135176247 135176247 single base substitution C T intron_variant BRCA-EU 7 135176492 135176492 single base substitution C T intron_variant BRCA-EU 7 135178258 135178258 single base substitution T C intron_variant BRCA-EU 7 135179002 135179002 single base substitution G A intron_variant BRCA-EU 7 135179452 135179452 single base substitution C A intron_variant BRCA-EU 7 135182862 135182865 deletion of <=200bp AGTA - intron_variant BRCA-EU 7 135183940 135183940 single base substitution G A intron_variant BRCA-EU 7 135184417 135184417 single base substitution A C intron_variant BRCA-EU 7 135185275 135185275 single base substitution A C intron_variant BRCA-EU 7 135185842 135185842 single base substitution C G intron_variant BRCA-EU 7 135186154 135186154 single base substitution T A intron_variant BRCA-EU 7 135186155 135186155 single base substitution C A intron_variant BRCA-EU 7 135186310 135186310 single base substitution C A intron_variant BRCA-EU 7 135186929 135186929 single base substitution G A intron_variant BRCA-EU 7 135187384 135187384 single base substitution G A intron_variant BRCA-EU 7 135188532 135188532 single base substitution G A intron_variant BRCA-EU 7 135190170 135190170 single base substitution G A intron_variant BRCA-EU 7 135190576 135190576 single base substitution G C intron_variant BRCA-EU 7 135190807 135190807 single base substitution G C intron_variant BRCA-EU 7 135192138 135192138 single base substitution C A intron_variant BRCA-EU 7 135192355 135192355 deletion of <=200bp T - intron_variant BRCA-EU 7 135193101 135193101 single base substitution C A intron_variant BRCA-EU 7 135193659 135193659 single base substitution G C intron_variant BRCA-EU 7 135194248 135194248 insertion of <=200bp - G intron_variant BRCA-EU 7 135197508 135197508 single base substitution G A upstream_gene_variant BRCA-EU 7 135199611 135199611 single base substitution G A upstream_gene_variant BRCA-EU 7 135199874 135199874 single base substitution T G upstream_gene_variant BRCA-FR 7 135052865 135052865 single base substitution A C intron_variant BRCA-FR 7 135058454 135058454 single base substitution G C intron_variant BRCA-FR 7 135061474 135061474 single base substitution G C intron_variant BRCA-FR 7 135066109 135066109 single base substitution T G downstream_gene_variant BRCA-FR 7 135066109 135066109 single base substitution T G intron_variant BRCA-FR 7 135072968 135072968 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 135072968 135072968 single base substitution G C intron_variant BRCA-FR 7 135072968 135072968 single base substitution G C upstream_gene_variant BRCA-FR 7 135083152 135083152 single base substitution G C intron_variant BRCA-FR 7 135084881 135084881 single base substitution G A intron_variant BRCA-FR 7 135085109 135085109 single base substitution C G intron_variant BRCA-FR 7 135085782 135085782 single base substitution C A intron_variant BRCA-FR 7 135091497 135091497 single base substitution C G intron_variant BRCA-FR 7 135099780 135099780 single base substitution C T intron_variant BRCA-FR 7 135101277 135101277 single base substitution G A intron_variant BRCA-FR 7 135109390 135109390 single base substitution T G intron_variant BRCA-FR 7 135113348 135113348 single base substitution G C intron_variant BRCA-FR 7 135113825 135113825 single base substitution G T intron_variant BRCA-FR 7 135117929 135117929 single base substitution A G intron_variant BRCA-FR 7 135119025 135119025 single base substitution G C intron_variant BRCA-FR 7 135124582 135124582 single base substitution A C intron_variant BRCA-FR 7 135124582 135124582 single base substitution A C upstream_gene_variant BRCA-FR 7 135125114 135125114 single base substitution A C intron_variant BRCA-FR 7 135125114 135125114 single base substitution A C upstream_gene_variant BRCA-FR 7 135125435 135125435 single base substitution C A intron_variant BRCA-FR 7 135125435 135125435 single base substitution C A upstream_gene_variant BRCA-FR 7 135128820 135128820 single base substitution G A intron_variant BRCA-FR 7 135134363 135134363 single base substitution G A intron_variant BRCA-FR 7 135139586 135139586 single base substitution C T intron_variant BRCA-FR 7 135150707 135150707 single base substitution G A intron_variant BRCA-FR 7 135152746 135152746 single base substitution G A intron_variant BRCA-FR 7 135154934 135154934 single base substitution G C intron_variant BRCA-FR 7 135161211 135161211 single base substitution G T intron_variant BRCA-FR 7 135163022 135163022 single base substitution C G intron_variant BRCA-FR 7 135186310 135186310 single base substitution C A intron_variant BRCA-FR 7 135187384 135187384 single base substitution G A intron_variant BRCA-FR 7 135187952 135187952 single base substitution C T intron_variant BRCA-FR 7 135188532 135188532 single base substitution G A intron_variant BRCA-FR 7 135188949 135188949 single base substitution G A intron_variant BRCA-FR 7 135190170 135190170 single base substitution G A intron_variant BRCA-FR 7 135190352 135190352 single base substitution G T intron_variant BRCA-FR 7 135190576 135190576 single base substitution G C intron_variant BRCA-FR 7 135190807 135190807 single base substitution G C intron_variant BRCA-FR 7 135193659 135193659 single base substitution G C intron_variant BRCA-UK 7 135057926 135057926 single base substitution C A intron_variant BRCA-UK 7 135099059 135099059 single base substitution G A intron_variant BRCA-UK 7 135126320 135126320 single base substitution A C intron_variant BRCA-UK 7 135126320 135126320 single base substitution A C upstream_gene_variant BRCA-UK 7 135132292 135132292 single base substitution T C intron_variant BRCA-UK 7 135152951 135152951 single base substitution G A intron_variant BRCA-UK 7 135153040 135153040 single base substitution G A intron_variant BRCA-UK 7 135155642 135155642 single base substitution G C intron_variant BRCA-UK 7 135185275 135185275 single base substitution A C intron_variant BRCA-US 7 135082944 135082944 single base substitution C A missense_variant G283W 847G>T BRCA-US 7 135082944 135082944 single base substitution C A missense_variant G286W 856G>T BRCA-US 7 135100012 135100012 single base substitution C A splice_acceptor_variant BTCA-JP 7 135047953 135047953 single base substitution G C intron_variant BTCA-JP 7 135048047 135048047 single base substitution C T intron_variant BTCA-JP 7 135073625 135073625 single base substitution G A intron_variant BTCA-JP 7 135073625 135073625 single base substitution G A missense_variant S547L 1640C>T BTCA-JP 7 135073625 135073625 single base substitution G A missense_variant S550L 1649C>T BTCA-JP 7 135073625 135073625 single base substitution G A upstream_gene_variant BTCA-JP 7 135106871 135106871 single base substitution A C downstream_gene_variant BTCA-JP 7 135106871 135106871 single base substitution A C intron_variant CLLE-ES 7 135085298 135085298 single base substitution T G intron_variant CLLE-ES 7 135124382 135124382 single base substitution G C intron_variant CLLE-ES 7 135124382 135124382 single base substitution G C upstream_gene_variant CLLE-ES 7 135129262 135129262 single base substitution T A intron_variant CLLE-ES 7 135176655 135176655 single base substitution A G intron_variant COAD-US 7 135047877 135047877 single base substitution C T exon_variant COAD-US 7 135047877 135047877 single base substitution C T stop_gained W560* 1680G>A COAD-US 7 135047877 135047877 single base substitution C T stop_gained W563* 1689G>A COAD-US 7 135047877 135047877 single base substitution C T stop_gained W631* 1893G>A COAD-US 7 135047877 135047877 single base substitution C T stop_gained W634* 1902G>A COAD-US 7 135099136 135099136 single base substitution C T missense_variant A169T 505G>A COAD-US 7 135106961 135106961 single base substitution C T downstream_gene_variant COAD-US 7 135106961 135106961 single base substitution C T missense_variant V106I 316G>A COAD-US 7 135122949 135122949 single base substitution C T exon_variant COAD-US 7 135122949 135122949 single base substitution C T missense_variant R44Q 131G>A COCA-CN 7 135048033 135048033 single base substitution G C intron_variant COCA-CN 7 135048770 135048770 single base substitution C A exon_variant COCA-CN 7 135048770 135048770 single base substitution C A intron_variant COCA-CN 7 135048770 135048770 single base substitution C A missense_variant G556V 1667G>T COCA-CN 7 135048770 135048770 single base substitution C A missense_variant G559V 1676G>T COCA-CN 7 135048839 135048839 single base substitution A C intron_variant COCA-CN 7 135067234 135067234 single base substitution T C downstream_gene_variant COCA-CN 7 135067234 135067234 single base substitution T C intron_variant COCA-CN 7 135072804 135072804 single base substitution A G 3_prime_UTR_variant COCA-CN 7 135072804 135072804 single base substitution A G intron_variant COCA-CN 7 135072804 135072804 single base substitution A G upstream_gene_variant COCA-CN 7 135091418 135091418 single base substitution T A intron_variant COCA-CN 7 135098344 135098344 single base substitution T G missense_variant K194Q 580A>C COCA-CN 7 135099054 135099054 single base substitution A G intron_variant COCA-CN 7 135104793 135104793 single base substitution C A downstream_gene_variant COCA-CN 7 135104793 135104793 single base substitution C A intron_variant COCA-CN 7 135105400 135105400 single base substitution G A downstream_gene_variant COCA-CN 7 135105400 135105400 single base substitution G A intron_variant COCA-CN 7 135122810 135122810 single base substitution T C intron_variant COCA-CN 7 135187742 135187742 single base substitution A G intron_variant EOPC-DE 7 135138331 135138331 single base substitution G A intron_variant EOPC-DE 7 135194532 135194532 single base substitution T G intron_variant EOPC-DE 7 135194532 135194532 single base substitution T G upstream_gene_variant ESAD-UK 7 135042603 135042603 single base substitution G A downstream_gene_variant ESAD-UK 7 135043612 135043612 single base substitution C G downstream_gene_variant ESAD-UK 7 135043789 135043789 insertion of <=200bp - ATAT downstream_gene_variant ESAD-UK 7 135043810 135043810 insertion of <=200bp - TT downstream_gene_variant ESAD-UK 7 135043818 135043818 single base substitution A C downstream_gene_variant ESAD-UK 7 135044083 135044083 single base substitution T C downstream_gene_variant ESAD-UK 7 135044182 135044182 single base substitution T A downstream_gene_variant ESAD-UK 7 135044590 135044590 single base substitution C T downstream_gene_variant ESAD-UK 7 135047704 135047704 single base substitution G A downstream_gene_variant ESAD-UK 7 135047704 135047704 single base substitution G A missense_variant T618I 1853C>T ESAD-UK 7 135047704 135047704 single base substitution G A missense_variant T621I 1862C>T ESAD-UK 7 135047704 135047704 single base substitution G A missense_variant T689I 2066C>T ESAD-UK 7 135047704 135047704 single base substitution G A missense_variant T692I 2075C>T ESAD-UK 7 135049064 135049064 single base substitution C T intron_variant ESAD-UK 7 135050253 135050253 single base substitution G A intron_variant ESAD-UK 7 135050867 135050867 single base substitution C T intron_variant ESAD-UK 7 135051172 135051172 single base substitution G C intron_variant ESAD-UK 7 135051706 135051706 single base substitution G A intron_variant ESAD-UK 7 135052537 135052537 single base substitution C A intron_variant ESAD-UK 7 135053746 135053746 single base substitution T G intron_variant ESAD-UK 7 135056505 135056505 insertion of <=200bp - A intron_variant ESAD-UK 7 135059570 135059570 single base substitution T A intron_variant ESAD-UK 7 135060442 135060442 single base substitution C G intron_variant ESAD-UK 7 135064296 135064296 single base substitution G A downstream_gene_variant ESAD-UK 7 135064296 135064296 single base substitution G A intron_variant ESAD-UK 7 135064325 135064325 insertion of <=200bp - TA downstream_gene_variant ESAD-UK 7 135064325 135064325 insertion of <=200bp - TA intron_variant ESAD-UK 7 135064344 135064344 single base substitution G A downstream_gene_variant ESAD-UK 7 135064344 135064344 single base substitution G A intron_variant ESAD-UK 7 135064651 135064651 single base substitution C A downstream_gene_variant ESAD-UK 7 135064651 135064651 single base substitution C A intron_variant ESAD-UK 7 135067239 135067239 single base substitution A T downstream_gene_variant ESAD-UK 7 135067239 135067239 single base substitution A T intron_variant ESAD-UK 7 135067405 135067405 single base substitution G A downstream_gene_variant ESAD-UK 7 135067405 135067405 single base substitution G A intron_variant ESAD-UK 7 135067414 135067414 single base substitution A T downstream_gene_variant ESAD-UK 7 135067414 135067414 single base substitution A T intron_variant ESAD-UK 7 135070024 135070024 single base substitution T A downstream_gene_variant ESAD-UK 7 135070024 135070024 single base substitution T A intron_variant ESAD-UK 7 135075202 135075202 single base substitution A T intron_variant ESAD-UK 7 135075202 135075202 single base substitution A T upstream_gene_variant ESAD-UK 7 135076072 135076072 single base substitution A C intron_variant ESAD-UK 7 135076072 135076072 single base substitution A C upstream_gene_variant ESAD-UK 7 135079803 135079803 single base substitution T G intron_variant ESAD-UK 7 135082215 135082215 single base substitution C T intron_variant ESAD-UK 7 135082468 135082468 single base substitution C T intron_variant ESAD-UK 7 135083192 135083192 single base substitution A G intron_variant ESAD-UK 7 135083600 135083600 single base substitution G T intron_variant ESAD-UK 7 135085857 135085857 single base substitution C T intron_variant ESAD-UK 7 135086794 135086794 single base substitution G C intron_variant ESAD-UK 7 135089170 135089170 single base substitution T A intron_variant ESAD-UK 7 135095762 135095762 single base substitution A G intron_variant ESAD-UK 7 135096480 135096480 single base substitution C T intron_variant ESAD-UK 7 135099747 135099747 single base substitution T A intron_variant ESAD-UK 7 135100635 135100635 single base substitution C T intron_variant ESAD-UK 7 135102066 135102066 single base substitution T G downstream_gene_variant ESAD-UK 7 135102066 135102066 single base substitution T G intron_variant ESAD-UK 7 135103319 135103319 single base substitution G A downstream_gene_variant ESAD-UK 7 135103319 135103319 single base substitution G A intron_variant ESAD-UK 7 135104988 135104988 single base substitution T A downstream_gene_variant ESAD-UK 7 135104988 135104988 single base substitution T A intron_variant ESAD-UK 7 135111175 135111175 single base substitution C T intron_variant ESAD-UK 7 135111418 135111418 single base substitution T A intron_variant ESAD-UK 7 135111419 135111419 single base substitution C A intron_variant ESAD-UK 7 135113463 135113463 insertion of <=200bp - A intron_variant ESAD-UK 7 135113994 135113994 single base substitution T C intron_variant ESAD-UK 7 135116178 135116178 single base substitution C T intron_variant ESAD-UK 7 135116713 135116713 single base substitution C T intron_variant ESAD-UK 7 135117520 135117520 single base substitution G T intron_variant ESAD-UK 7 135120296 135120296 single base substitution G A intron_variant ESAD-UK 7 135121102 135121102 single base substitution A G intron_variant ESAD-UK 7 135121336 135121336 single base substitution C T intron_variant ESAD-UK 7 135124301 135124301 single base substitution G A intron_variant ESAD-UK 7 135124301 135124301 single base substitution G A upstream_gene_variant ESAD-UK 7 135125495 135125495 single base substitution C T intron_variant ESAD-UK 7 135125495 135125495 single base substitution C T upstream_gene_variant ESAD-UK 7 135127069 135127069 single base substitution C T intron_variant ESAD-UK 7 135127069 135127069 single base substitution C T upstream_gene_variant ESAD-UK 7 135127538 135127538 single base substitution G C intron_variant ESAD-UK 7 135127538 135127538 single base substitution G C upstream_gene_variant ESAD-UK 7 135127763 135127763 single base substitution C T intron_variant ESAD-UK 7 135127763 135127763 single base substitution C T upstream_gene_variant ESAD-UK 7 135127848 135127848 single base substitution C A intron_variant ESAD-UK 7 135127848 135127848 single base substitution C A upstream_gene_variant ESAD-UK 7 135127859 135127859 single base substitution G A intron_variant ESAD-UK 7 135127859 135127859 single base substitution G A upstream_gene_variant ESAD-UK 7 135128594 135128594 single base substitution T C intron_variant ESAD-UK 7 135131046 135131046 single base substitution T C intron_variant ESAD-UK 7 135133025 135133025 single base substitution G T intron_variant ESAD-UK 7 135133344 135133344 single base substitution G T intron_variant ESAD-UK 7 135133554 135133554 single base substitution C T intron_variant ESAD-UK 7 135136807 135136807 single base substitution G C intron_variant ESAD-UK 7 135140614 135140614 insertion of <=200bp - A intron_variant ESAD-UK 7 135145519 135145519 deletion of <=200bp A - intron_variant ESAD-UK 7 135146864 135146864 deletion of <=200bp A - intron_variant ESAD-UK 7 135147855 135147855 single base substitution G A intron_variant ESAD-UK 7 135152086 135152086 single base substitution C T intron_variant ESAD-UK 7 135152556 135152557 deletion of <=200bp AG - intron_variant ESAD-UK 7 135156010 135156010 single base substitution A T intron_variant ESAD-UK 7 135162677 135162677 single base substitution T C intron_variant ESAD-UK 7 135164810 135164810 deletion of <=200bp A - intron_variant ESAD-UK 7 135165069 135165069 single base substitution C A intron_variant ESAD-UK 7 135169951 135169951 single base substitution G T intron_variant ESAD-UK 7 135170728 135170728 single base substitution A G intron_variant ESAD-UK 7 135179770 135179770 single base substitution T C intron_variant ESAD-UK 7 135181111 135181111 single base substitution G A intron_variant ESAD-UK 7 135181890 135181890 single base substitution T C intron_variant ESAD-UK 7 135182413 135182413 single base substitution C T intron_variant ESAD-UK 7 135185221 135185221 single base substitution A T intron_variant ESAD-UK 7 135186504 135186516 deletion of <=200bp CCAGTAATTAACA - intron_variant ESAD-UK 7 135191923 135191923 insertion of <=200bp - A intron_variant ESAD-UK 7 135192361 135192361 single base substitution T A intron_variant ESAD-UK 7 135193032 135193032 single base substitution T G intron_variant ESAD-UK 7 135193737 135193737 single base substitution C T intron_variant ESAD-UK 7 135195271 135195271 single base substitution G A upstream_gene_variant ESAD-UK 7 135195803 135195803 single base substitution C G upstream_gene_variant ESAD-UK 7 135198922 135198922 single base substitution A C upstream_gene_variant ESAD-UK 7 135199716 135199716 single base substitution C A upstream_gene_variant ESCA-CN 7 135047866 135047866 single base substitution A G exon_variant ESCA-CN 7 135047866 135047866 single base substitution A G missense_variant L564P 1691T>C ESCA-CN 7 135047866 135047866 single base substitution A G missense_variant L567P 1700T>C ESCA-CN 7 135047866 135047866 single base substitution A G missense_variant L635P 1904T>C ESCA-CN 7 135047866 135047866 single base substitution A G missense_variant L638P 1913T>C ESCA-CN 7 135078858 135078858 single base substitution T C intron_variant ESCA-CN 7 135078858 135078858 single base substitution T C missense_variant Q477R 1430A>G ESCA-CN 7 135078858 135078858 single base substitution T C missense_variant Q480R 1439A>G ESCA-CN 7 135080497 135080500 deletion of <=200bp TGTC - frameshift_variant DN336 ESCA-CN 7 135080497 135080500 deletion of <=200bp TGTC - frameshift_variant DN339 ESCA-CN 7 135194548 135194548 single base substitution T G intron_variant ESCA-CN 7 135194548 135194548 single base substitution T G upstream_gene_variant GBM-US 7 135047676 135047676 deletion of <=200bp G - downstream_gene_variant GBM-US 7 135047676 135047676 deletion of <=200bp G - frameshift_variant P627 GBM-US 7 135047676 135047676 deletion of <=200bp G - frameshift_variant P630 GBM-US 7 135047676 135047676 deletion of <=200bp G - frameshift_variant P698 GBM-US 7 135047676 135047676 deletion of <=200bp G - frameshift_variant P701 GBM-US 7 135047681 135047681 deletion of <=200bp T - downstream_gene_variant GBM-US 7 135047681 135047681 deletion of <=200bp T - frameshift_variant T626 GBM-US 7 135047681 135047681 deletion of <=200bp T - frameshift_variant T629 GBM-US 7 135047681 135047681 deletion of <=200bp T - frameshift_variant T697 GBM-US 7 135047681 135047681 deletion of <=200bp T - frameshift_variant T700 KIRC-US 7 135080392 135080392 single base substitution T C missense_variant T372A 1114A>G KIRC-US 7 135080392 135080392 single base substitution T C missense_variant T375A 1123A>G KIRC-US 7 135095315 135095315 single base substitution A T synonymous_variant G257G 771T>A KIRC-US 7 135098321 135098321 insertion of <=200bp - TT frameshift_variant K201K? LAML-KR 7 135069272 135069272 single base substitution T C 3_prime_UTR_variant LAML-KR 7 135069272 135069272 single base substitution T C downstream_gene_variant LAML-KR 7 135069272 135069272 single base substitution T C intron_variant LAML-KR 7 135150492 135150492 single base substitution T A intron_variant LAML-KR 7 135156675 135156675 single base substitution T C intron_variant LAML-KR 7 135194532 135194532 single base substitution T G intron_variant LAML-KR 7 135194532 135194532 single base substitution T G upstream_gene_variant LGG-US 7 135048807 135048807 single base substitution A G exon_variant LGG-US 7 135048807 135048807 single base substitution A G intron_variant LGG-US 7 135048807 135048807 single base substitution A G missense_variant S544P 1630T>C LGG-US 7 135048807 135048807 single base substitution A G missense_variant S547P 1639T>C LICA-CN 7 135047781 135047781 single base substitution C A exon_variant LICA-CN 7 135047781 135047781 single base substitution C A synonymous_variant L592L 1776G>T LICA-CN 7 135047781 135047781 single base substitution C A synonymous_variant L595L 1785G>T LICA-CN 7 135047781 135047781 single base substitution C A synonymous_variant L663L 1989G>T LICA-CN 7 135047781 135047781 single base substitution C A synonymous_variant L666L 1998G>T LICA-CN 7 135047877 135047877 single base substitution C A exon_variant LICA-CN 7 135047877 135047877 single base substitution C A missense_variant W560C 1680G>T LICA-CN 7 135047877 135047877 single base substitution C A missense_variant W563C 1689G>T LICA-CN 7 135047877 135047877 single base substitution C A missense_variant W631C 1893G>T LICA-CN 7 135047877 135047877 single base substitution C A missense_variant W634C 1902G>T LICA-CN 7 135047878 135047878 single base substitution C G exon_variant LICA-CN 7 135047878 135047878 single base substitution C G missense_variant W560S 1679G>C LICA-CN 7 135047878 135047878 single base substitution C G missense_variant W563S 1688G>C LICA-CN 7 135047878 135047878 single base substitution C G missense_variant W631S 1892G>C LICA-CN 7 135047878 135047878 single base substitution C G missense_variant W634S 1901G>C LICA-CN 7 135078865 135078865 single base substitution G C intron_variant LICA-CN 7 135078865 135078865 single base substitution G C missense_variant Q475E 1423C>G LICA-CN 7 135078865 135078865 single base substitution G C missense_variant Q478E 1432C>G LICA-FR 7 135045011 135045013 deletion of <=200bp TTT - downstream_gene_variant LICA-FR 7 135055661 135055661 single base substitution A T intron_variant LICA-FR 7 135070906 135070906 insertion of <=200bp - T 3_prime_UTR_variant LICA-FR 7 135070906 135070906 insertion of <=200bp - T downstream_gene_variant LICA-FR 7 135070906 135070906 insertion of <=200bp - T intron_variant LICA-FR 7 135072152 135072152 single base substitution T C 3_prime_UTR_variant LICA-FR 7 135072152 135072152 single base substitution T C intron_variant LICA-FR 7 135075397 135075397 single base substitution C A intron_variant LICA-FR 7 135075397 135075397 single base substitution C A upstream_gene_variant LICA-FR 7 135077074 135077074 single base substitution T G intron_variant LICA-FR 7 135077074 135077074 single base substitution T G upstream_gene_variant LICA-FR 7 135077946 135077946 single base substitution A C intron_variant LICA-FR 7 135097467 135097467 single base substitution T C intron_variant LICA-FR 7 135106720 135106720 single base substitution C G downstream_gene_variant LICA-FR 7 135106720 135106720 single base substitution C G intron_variant LICA-FR 7 135126370 135126370 single base substitution A G intron_variant LICA-FR 7 135126370 135126370 single base substitution A G upstream_gene_variant LICA-FR 7 135127937 135127938 deletion of <=200bp AA - intron_variant LICA-FR 7 135127937 135127938 deletion of <=200bp AA - upstream_gene_variant LICA-FR 7 135137318 135137318 single base substitution C A intron_variant LICA-FR 7 135158473 135158473 single base substitution T C intron_variant LICA-FR 7 135173873 135173873 single base substitution T C intron_variant LICA-FR 7 135179219 135179220 deletion of <=200bp AA - intron_variant LICA-FR 7 135187565 135187565 deletion of <=200bp A - intron_variant LICA-FR 7 135189238 135189238 single base substitution A T intron_variant LIHC-US 7 135107050 135107050 single base substitution T C downstream_gene_variant LIHC-US 7 135107050 135107050 single base substitution T C exon_variant LIHC-US 7 135107050 135107050 single base substitution T C missense_variant Q76R 227A>G LIHC-US 7 135122994 135122994 deletion of <=200bp A - exon_variant LIHC-US 7 135122994 135122994 deletion of <=200bp A - frameshift_variant F29 LINC-JP 7 135047387 135047387 single base substitution T G 3_prime_UTR_variant LINC-JP 7 135047387 135047387 single base substitution T G downstream_gene_variant LINC-JP 7 135048783 135048783 single base substitution C G exon_variant LINC-JP 7 135048783 135048783 single base substitution C G intron_variant LINC-JP 7 135048783 135048783 single base substitution C G missense_variant E552Q 1654G>C LINC-JP 7 135048783 135048783 single base substitution C G missense_variant E555Q 1663G>C LINC-JP 7 135050119 135050119 single base substitution T C intron_variant LINC-JP 7 135054573 135054573 single base substitution C A intron_variant LINC-JP 7 135063488 135063488 single base substitution A G intron_variant LINC-JP 7 135065420 135065420 single base substitution A G downstream_gene_variant LINC-JP 7 135065420 135065420 single base substitution A G intron_variant LINC-JP 7 135069493 135069493 single base substitution T C downstream_gene_variant LINC-JP 7 135069493 135069493 single base substitution T C intron_variant LINC-JP 7 135073600 135073600 single base substitution G C intron_variant LINC-JP 7 135073600 135073600 single base substitution G C synonymous_variant S555S 1665C>G LINC-JP 7 135073600 135073600 single base substitution G C synonymous_variant S558S 1674C>G LINC-JP 7 135073600 135073600 single base substitution G C upstream_gene_variant LINC-JP 7 135080363 135080363 single base substitution T C intron_variant LINC-JP 7 135081544 135081544 single base substitution T A intron_variant LINC-JP 7 135083063 135083063 single base substitution C A intron_variant LINC-JP 7 135083120 135083120 single base substitution T C intron_variant LINC-JP 7 135086580 135086580 single base substitution A G intron_variant LINC-JP 7 135098360 135098360 single base substitution T A splice_region_variant LINC-JP 7 135120566 135120566 single base substitution A C intron_variant LINC-JP 7 135144975 135144975 single base substitution T C intron_variant LINC-JP 7 135146413 135146413 single base substitution C A intron_variant LINC-JP 7 135147405 135147405 single base substitution T C intron_variant LINC-JP 7 135150753 135150753 single base substitution T C intron_variant LINC-JP 7 135156019 135156019 deletion of <=200bp A - intron_variant LINC-JP 7 135159471 135159471 single base substitution G A intron_variant LINC-JP 7 135182951 135182951 single base substitution T C intron_variant LINC-JP 7 135182967 135182967 single base substitution A G intron_variant LIRI-JP 7 135042137 135042140 deletion of <=200bp ACTG - downstream_gene_variant LIRI-JP 7 135045790 135045790 single base substitution A G downstream_gene_variant LIRI-JP 7 135052059 135052059 single base substitution T A intron_variant LIRI-JP 7 135054353 135054353 insertion of <=200bp - A intron_variant LIRI-JP 7 135055283 135055283 single base substitution T A intron_variant LIRI-JP 7 135056120 135056162 deletion of <=200bp AGTATGAGCAAAGACCTGTGGGGCATAAAGAAGGAAGTGAATA - intron_variant LIRI-JP 7 135057198 135057198 single base substitution G C intron_variant LIRI-JP 7 135057211 135057211 single base substitution A G intron_variant LIRI-JP 7 135057739 135057739 single base substitution T C intron_variant LIRI-JP 7 135059762 135059762 single base substitution G A intron_variant LIRI-JP 7 135063211 135063211 single base substitution G A intron_variant LIRI-JP 7 135064985 135064985 single base substitution T C downstream_gene_variant LIRI-JP 7 135064985 135064985 single base substitution T C intron_variant LIRI-JP 7 135066679 135066679 single base substitution T C downstream_gene_variant LIRI-JP 7 135066679 135066679 single base substitution T C intron_variant LIRI-JP 7 135067201 135067201 single base substitution A G downstream_gene_variant LIRI-JP 7 135067201 135067201 single base substitution A G intron_variant LIRI-JP 7 135069957 135069957 single base substitution T C downstream_gene_variant LIRI-JP 7 135069957 135069957 single base substitution T C intron_variant LIRI-JP 7 135072297 135072297 single base substitution C A 3_prime_UTR_variant LIRI-JP 7 135072297 135072297 single base substitution C A intron_variant LIRI-JP 7 135073972 135073972 single base substitution T C intron_variant LIRI-JP 7 135073972 135073972 single base substitution T C upstream_gene_variant LIRI-JP 7 135075430 135075430 single base substitution T C intron_variant LIRI-JP 7 135075430 135075430 single base substitution T C upstream_gene_variant LIRI-JP 7 135077041 135077041 single base substitution C A intron_variant LIRI-JP 7 135077041 135077041 single base substitution C A upstream_gene_variant LIRI-JP 7 135079361 135079361 single base substitution A C intron_variant LIRI-JP 7 135079757 135079757 single base substitution T C intron_variant LIRI-JP 7 135080245 135080245 single base substitution T A intron_variant LIRI-JP 7 135080808 135080808 single base substitution T C intron_variant LIRI-JP 7 135085864 135085864 single base substitution G A intron_variant LIRI-JP 7 135089595 135089595 single base substitution G A intron_variant LIRI-JP 7 135090545 135090545 single base substitution T C intron_variant LIRI-JP 7 135095558 135095558 single base substitution C A intron_variant LIRI-JP 7 135096165 135096165 single base substitution T A intron_variant LIRI-JP 7 135096232 135096232 single base substitution T C intron_variant LIRI-JP 7 135096297 135096297 single base substitution A G intron_variant LIRI-JP 7 135096750 135096751 deletion of <=200bp TT - intron_variant LIRI-JP 7 135101787 135101787 single base substitution A T intron_variant LIRI-JP 7 135102584 135102584 single base substitution T C downstream_gene_variant LIRI-JP 7 135102584 135102584 single base substitution T C intron_variant LIRI-JP 7 135102782 135102782 single base substitution T A downstream_gene_variant LIRI-JP 7 135102782 135102782 single base substitution T A intron_variant LIRI-JP 7 135104892 135104892 insertion of <=200bp - A downstream_gene_variant LIRI-JP 7 135104892 135104892 insertion of <=200bp - A intron_variant LIRI-JP 7 135105667 135105667 single base substitution A C downstream_gene_variant LIRI-JP 7 135105667 135105667 single base substitution A C intron_variant LIRI-JP 7 135114983 135114983 single base substitution C G intron_variant LIRI-JP 7 135115469 135115469 single base substitution T C intron_variant LIRI-JP 7 135117033 135117033 single base substitution T C intron_variant LIRI-JP 7 135119552 135119552 single base substitution T C intron_variant LIRI-JP 7 135122765 135122765 single base substitution T C intron_variant LIRI-JP 7 135128151 135128151 single base substitution A G intron_variant LIRI-JP 7 135130452 135130452 single base substitution T C intron_variant LIRI-JP 7 135135628 135135628 single base substitution C T intron_variant LIRI-JP 7 135135982 135135982 single base substitution C A intron_variant LIRI-JP 7 135139044 135139044 single base substitution T C intron_variant LIRI-JP 7 135139196 135139196 single base substitution G T intron_variant LIRI-JP 7 135140233 135140233 single base substitution T C intron_variant LIRI-JP 7 135142356 135142356 single base substitution T C intron_variant LIRI-JP 7 135143123 135143123 single base substitution T C intron_variant LIRI-JP 7 135144281 135144281 single base substitution T C intron_variant LIRI-JP 7 135147334 135147334 single base substitution A G intron_variant LIRI-JP 7 135148379 135148379 single base substitution T C intron_variant LIRI-JP 7 135149827 135149827 single base substitution C T intron_variant LIRI-JP 7 135150006 135150006 single base substitution T C intron_variant LIRI-JP 7 135152313 135152313 single base substitution T C intron_variant LIRI-JP 7 135152360 135152360 single base substitution T G intron_variant LIRI-JP 7 135152401 135152401 single base substitution A G intron_variant LIRI-JP 7 135155022 135155022 single base substitution G T intron_variant LIRI-JP 7 135156546 135156546 single base substitution T G intron_variant LIRI-JP 7 135157744 135157744 single base substitution A G intron_variant LIRI-JP 7 135157857 135157857 single base substitution T C intron_variant LIRI-JP 7 135159121 135159121 single base substitution C T intron_variant LIRI-JP 7 135161997 135161997 single base substitution A T intron_variant LIRI-JP 7 135162493 135162493 insertion of <=200bp - A intron_variant LIRI-JP 7 135164512 135164512 single base substitution C A intron_variant LIRI-JP 7 135164790 135164790 single base substitution C T intron_variant LIRI-JP 7 135169731 135169731 single base substitution C T intron_variant LIRI-JP 7 135172402 135172402 single base substitution T G intron_variant LIRI-JP 7 135174903 135174903 single base substitution C G intron_variant LIRI-JP 7 135179592 135179592 single base substitution T C intron_variant LIRI-JP 7 135181359 135181359 single base substitution C T intron_variant LIRI-JP 7 135184057 135184057 single base substitution A T intron_variant LIRI-JP 7 135184442 135184442 single base substitution T G intron_variant LIRI-JP 7 135185644 135185644 single base substitution T C intron_variant LIRI-JP 7 135188155 135188155 single base substitution G A intron_variant LIRI-JP 7 135191854 135191854 single base substitution C A intron_variant LIRI-JP 7 135192211 135192211 single base substitution T C intron_variant LIRI-JP 7 135193467 135193467 single base substitution A G intron_variant LIRI-JP 7 135197220 135197220 single base substitution T C upstream_gene_variant LIRI-JP 7 135197927 135197927 single base substitution G T upstream_gene_variant LUSC-CN 7 135073407 135073407 single base substitution C T 3_prime_UTR_variant LUSC-CN 7 135073407 135073407 single base substitution C T intron_variant LUSC-CN 7 135073407 135073407 single base substitution C T upstream_gene_variant LUSC-KR 7 135047340 135047340 single base substitution T A 3_prime_UTR_variant LUSC-KR 7 135047340 135047340 single base substitution T A downstream_gene_variant LUSC-KR 7 135051965 135051965 single base substitution G C intron_variant LUSC-KR 7 135055834 135055834 single base substitution T A intron_variant LUSC-KR 7 135056317 135056317 single base substitution T C intron_variant LUSC-KR 7 135065815 135065815 single base substitution T C downstream_gene_variant LUSC-KR 7 135065815 135065815 single base substitution T C intron_variant LUSC-KR 7 135066804 135066804 single base substitution G C downstream_gene_variant LUSC-KR 7 135066804 135066804 single base substitution G C intron_variant LUSC-KR 7 135073047 135073047 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 135073047 135073047 single base substitution T C intron_variant LUSC-KR 7 135073047 135073047 single base substitution T C upstream_gene_variant LUSC-KR 7 135077820 135077820 single base substitution C T intron_variant LUSC-KR 7 135082751 135082751 single base substitution T C intron_variant LUSC-KR 7 135087084 135087084 single base substitution C A intron_variant LUSC-KR 7 135095676 135095676 single base substitution T C intron_variant LUSC-KR 7 135099060 135099060 single base substitution A T intron_variant LUSC-KR 7 135099133 135099133 single base substitution G C missense_variant L170V 508C>G LUSC-KR 7 135099901 135099901 single base substitution G A intron_variant LUSC-KR 7 135101338 135101338 single base substitution G C intron_variant LUSC-KR 7 135115028 135115028 single base substitution G A intron_variant LUSC-KR 7 135122642 135122642 single base substitution G A intron_variant LUSC-KR 7 135125588 135125588 single base substitution A C intron_variant LUSC-KR 7 135125588 135125588 single base substitution A C upstream_gene_variant LUSC-KR 7 135129039 135129039 single base substitution G A intron_variant LUSC-KR 7 135131557 135131557 single base substitution C A intron_variant LUSC-KR 7 135134269 135134269 single base substitution C A intron_variant LUSC-KR 7 135139533 135139533 single base substitution G A intron_variant LUSC-KR 7 135139695 135139695 single base substitution C T intron_variant LUSC-KR 7 135139923 135139923 single base substitution G A intron_variant LUSC-KR 7 135142302 135142302 single base substitution T C intron_variant LUSC-KR 7 135158286 135158286 single base substitution C G intron_variant LUSC-KR 7 135159314 135159314 single base substitution G T intron_variant LUSC-KR 7 135160597 135160597 single base substitution T C intron_variant LUSC-KR 7 135169205 135169205 single base substitution G C intron_variant LUSC-KR 7 135178037 135178037 single base substitution G A intron_variant LUSC-KR 7 135185647 135185647 single base substitution T C intron_variant LUSC-KR 7 135188259 135188259 single base substitution T C intron_variant LUSC-KR 7 135189000 135189000 single base substitution C A intron_variant LUSC-KR 7 135189238 135189238 single base substitution A T intron_variant LUSC-KR 7 135195761 135195761 single base substitution G A upstream_gene_variant LUSC-KR 7 135198944 135198944 single base substitution G C upstream_gene_variant LUSC-KR 7 135199281 135199281 single base substitution G C upstream_gene_variant LUSC-KR 7 135199824 135199824 single base substitution G A upstream_gene_variant LUSC-US 7 135047693 135047693 single base substitution G A downstream_gene_variant LUSC-US 7 135047693 135047693 single base substitution G A missense_variant P622S 1864C>T LUSC-US 7 135047693 135047693 single base substitution G A missense_variant P625S 1873C>T LUSC-US 7 135047693 135047693 single base substitution G A missense_variant P693S 2077C>T LUSC-US 7 135047693 135047693 single base substitution G A missense_variant P696S 2086C>T LUSC-US 7 135048672 135048674 deletion of <=200bp TGT - disruptive_inframe_deletion NT588T LUSC-US 7 135048672 135048674 deletion of <=200bp TGT - disruptive_inframe_deletion NT591T LUSC-US 7 135048672 135048674 deletion of <=200bp TGT - exon_variant LUSC-US 7 135048672 135048674 deletion of <=200bp TGT - intron_variant LUSC-US 7 135048770 135048770 single base substitution C A exon_variant LUSC-US 7 135048770 135048770 single base substitution C A intron_variant LUSC-US 7 135048770 135048770 single base substitution C A missense_variant G556V 1667G>T LUSC-US 7 135048770 135048770 single base substitution C A missense_variant G559V 1676G>T LUSC-US 7 135048771 135048771 single base substitution C A exon_variant LUSC-US 7 135048771 135048771 single base substitution C A intron_variant LUSC-US 7 135048771 135048771 single base substitution C A missense_variant G556W 1666G>T LUSC-US 7 135048771 135048771 single base substitution C A missense_variant G559W 1675G>T LUSC-US 7 135073610 135073610 single base substitution G T intron_variant LUSC-US 7 135073610 135073610 single base substitution G T stop_gained S552* 1655C>A LUSC-US 7 135073610 135073610 single base substitution G T stop_gained S555* 1664C>A LUSC-US 7 135073610 135073610 single base substitution G T upstream_gene_variant LUSC-US 7 135078671 135078671 single base substitution T A intron_variant LUSC-US 7 135078671 135078671 single base substitution T A splice_region_variant LUSC-US 7 135078943 135078943 single base substitution C A intron_variant LUSC-US 7 135078943 135078943 single base substitution C A stop_gained G449* 1345G>T LUSC-US 7 135078943 135078943 single base substitution C A stop_gained G452* 1354G>T LUSC-US 7 135080421 135080421 single base substitution G A missense_variant P362L 1085C>T LUSC-US 7 135080421 135080421 single base substitution G A missense_variant P365L 1094C>T LUSC-US 7 135099078 135099078 single base substitution A C splice_donor_variant MALY-DE 7 135045630 135045630 single base substitution G C downstream_gene_variant MALY-DE 7 135060324 135060324 single base substitution T G intron_variant MALY-DE 7 135065536 135065536 single base substitution T A downstream_gene_variant MALY-DE 7 135065536 135065536 single base substitution T A intron_variant MALY-DE 7 135067336 135067336 insertion of <=200bp - A downstream_gene_variant MALY-DE 7 135067336 135067336 insertion of <=200bp - A intron_variant MALY-DE 7 135080753 135080753 single base substitution T A intron_variant MALY-DE 7 135085878 135085878 single base substitution G A intron_variant MALY-DE 7 135103243 135103243 single base substitution T G downstream_gene_variant MALY-DE 7 135103243 135103243 single base substitution T G intron_variant MALY-DE 7 135107242 135107242 single base substitution A T intron_variant MALY-DE 7 135109021 135109021 single base substitution A G intron_variant MALY-DE 7 135133601 135133601 insertion of <=200bp - A intron_variant MALY-DE 7 135134814 135134814 single base substitution T A intron_variant MALY-DE 7 135137474 135137474 single base substitution A C intron_variant MALY-DE 7 135140597 135140597 single base substitution C G intron_variant MALY-DE 7 135145227 135145230 deletion of <=200bp AGAC - intron_variant MALY-DE 7 135149421 135149421 single base substitution A T intron_variant MALY-DE 7 135159644 135159644 single base substitution G A intron_variant MALY-DE 7 135165718 135165718 single base substitution A C intron_variant MALY-DE 7 135167219 135167219 single base substitution G A intron_variant MALY-DE 7 135180361 135180361 single base substitution G A intron_variant MALY-DE 7 135190103 135190103 single base substitution A C intron_variant MELA-AU 7 135041557 135041557 single base substitution G A downstream_gene_variant MELA-AU 7 135042236 135042236 single base substitution G A downstream_gene_variant MELA-AU 7 135042616 135042616 single base substitution G A downstream_gene_variant MELA-AU 7 135043405 135043405 single base substitution G A downstream_gene_variant MELA-AU 7 135043550 135043550 single base substitution C T downstream_gene_variant MELA-AU 7 135043810 135043810 insertion of <=200bp - T downstream_gene_variant MELA-AU 7 135043811 135043811 single base substitution A T downstream_gene_variant MELA-AU 7 135043813 135043813 single base substitution A T downstream_gene_variant MELA-AU 7 135044393 135044393 single base substitution G A downstream_gene_variant MELA-AU 7 135044943 135044943 single base substitution G A downstream_gene_variant MELA-AU 7 135045146 135045146 single base substitution G A downstream_gene_variant MELA-AU 7 135045454 135045454 single base substitution G A downstream_gene_variant MELA-AU 7 135045513 135045513 single base substitution G A downstream_gene_variant MELA-AU 7 135045681 135045681 single base substitution G A downstream_gene_variant MELA-AU 7 135045827 135045827 single base substitution G A downstream_gene_variant MELA-AU 7 135045995 135045995 single base substitution G A downstream_gene_variant MELA-AU 7 135046739 135046739 single base substitution G A 3_prime_UTR_variant MELA-AU 7 135046739 135046739 single base substitution G A downstream_gene_variant MELA-AU 7 135047529 135047530 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 7 135047529 135047530 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 135047656 135047656 single base substitution G A downstream_gene_variant MELA-AU 7 135047656 135047656 single base substitution G A missense_variant S634L 1901C>T MELA-AU 7 135047656 135047656 single base substitution G A missense_variant S637L 1910C>T MELA-AU 7 135047656 135047656 single base substitution G A missense_variant S705L 2114C>T MELA-AU 7 135047656 135047656 single base substitution G A missense_variant S708L 2123C>T MELA-AU 7 135047787 135047787 single base substitution G A exon_variant MELA-AU 7 135047787 135047787 single base substitution G A synonymous_variant I590I 1770C>T MELA-AU 7 135047787 135047787 single base substitution G A synonymous_variant I593I 1779C>T MELA-AU 7 135047787 135047787 single base substitution G A synonymous_variant I661I 1983C>T MELA-AU 7 135047787 135047787 single base substitution G A synonymous_variant I664I 1992C>T MELA-AU 7 135047964 135047964 single base substitution G A intron_variant MELA-AU 7 135048068 135048069 multiple base substitution (>=2bp and <=200bp) TA AG intron_variant MELA-AU 7 135048844 135048844 single base substitution G T intron_variant MELA-AU 7 135049073 135049073 single base substitution G C intron_variant MELA-AU 7 135049103 135049103 single base substitution A C intron_variant MELA-AU 7 135049248 135049248 single base substitution G A intron_variant MELA-AU 7 135049441 135049441 single base substitution G A intron_variant MELA-AU 7 135049757 135049757 single base substitution G A intron_variant MELA-AU 7 135050601 135050601 single base substitution C T intron_variant MELA-AU 7 135051165 135051165 single base substitution A G intron_variant MELA-AU 7 135051514 135051514 single base substitution A G intron_variant MELA-AU 7 135051665 135051665 single base substitution C T intron_variant MELA-AU 7 135051695 135051695 single base substitution G A intron_variant MELA-AU 7 135052433 135052433 single base substitution G A intron_variant MELA-AU 7 135052541 135052541 single base substitution A T intron_variant MELA-AU 7 135053722 135053722 single base substitution G A intron_variant MELA-AU 7 135053897 135053897 single base substitution G T intron_variant MELA-AU 7 135053908 135053908 insertion of <=200bp - A intron_variant MELA-AU 7 135055137 135055137 single base substitution T C intron_variant MELA-AU 7 135055579 135055579 single base substitution C T intron_variant MELA-AU 7 135055713 135055713 single base substitution G A intron_variant MELA-AU 7 135055819 135055819 single base substitution C T intron_variant MELA-AU 7 135056505 135056505 deletion of <=200bp A - intron_variant MELA-AU 7 135056957 135056957 single base substitution G A intron_variant MELA-AU 7 135057012 135057012 single base substitution T C intron_variant MELA-AU 7 135057666 135057666 single base substitution G A intron_variant MELA-AU 7 135058132 135058132 single base substitution G A intron_variant MELA-AU 7 135058572 135058572 single base substitution G A intron_variant MELA-AU 7 135058750 135058750 single base substitution C T intron_variant MELA-AU 7 135059069 135059069 single base substitution G A intron_variant MELA-AU 7 135059186 135059186 single base substitution G A intron_variant MELA-AU 7 135059334 135059334 single base substitution G A intron_variant MELA-AU 7 135059612 135059612 single base substitution A C intron_variant MELA-AU 7 135059988 135059988 single base substitution G A intron_variant MELA-AU 7 135060040 135060040 single base substitution G A intron_variant MELA-AU 7 135060174 135060174 single base substitution C T intron_variant MELA-AU 7 135060358 135060358 single base substitution G A intron_variant MELA-AU 7 135060765 135060765 single base substitution C T intron_variant MELA-AU 7 135060838 135060838 single base substitution G A intron_variant MELA-AU 7 135061118 135061118 single base substitution T A intron_variant MELA-AU 7 135061832 135061832 single base substitution A T intron_variant MELA-AU 7 135062280 135062280 single base substitution A T intron_variant MELA-AU 7 135062603 135062603 single base substitution A G intron_variant MELA-AU 7 135063048 135063048 single base substitution G A intron_variant MELA-AU 7 135063269 135063269 deletion of <=200bp G - intron_variant MELA-AU 7 135063442 135063442 single base substitution G T intron_variant MELA-AU 7 135063773 135063773 single base substitution G A intron_variant MELA-AU 7 135064155 135064155 single base substitution G A downstream_gene_variant MELA-AU 7 135064155 135064155 single base substitution G A intron_variant MELA-AU 7 135065216 135065216 single base substitution C T downstream_gene_variant MELA-AU 7 135065216 135065216 single base substitution C T intron_variant MELA-AU 7 135065745 135065745 single base substitution G A downstream_gene_variant MELA-AU 7 135065745 135065745 single base substitution G A intron_variant MELA-AU 7 135066524 135066524 single base substitution G A downstream_gene_variant MELA-AU 7 135066524 135066524 single base substitution G A intron_variant MELA-AU 7 135066529 135066529 deletion of <=200bp G - downstream_gene_variant MELA-AU 7 135066529 135066529 deletion of <=200bp G - intron_variant MELA-AU 7 135067405 135067405 single base substitution G A downstream_gene_variant MELA-AU 7 135067405 135067405 single base substitution G A intron_variant MELA-AU 7 135067656 135067657 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 135067656 135067657 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 135068232 135068232 single base substitution G A downstream_gene_variant MELA-AU 7 135068232 135068232 single base substitution G A intron_variant MELA-AU 7 135068393 135068394 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 7 135068393 135068394 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 7 135068423 135068424 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 135068423 135068424 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 135070057 135070057 single base substitution G A downstream_gene_variant MELA-AU 7 135070057 135070057 single base substitution G A intron_variant MELA-AU 7 135070072 135070072 single base substitution C T downstream_gene_variant MELA-AU 7 135070072 135070072 single base substitution C T intron_variant MELA-AU 7 135070089 135070089 single base substitution G A downstream_gene_variant MELA-AU 7 135070089 135070089 single base substitution G A intron_variant MELA-AU 7 135070130 135070130 single base substitution C T downstream_gene_variant MELA-AU 7 135070130 135070130 single base substitution C T intron_variant MELA-AU 7 135070326 135070326 single base substitution A C downstream_gene_variant MELA-AU 7 135070326 135070326 single base substitution A C intron_variant MELA-AU 7 135070334 135070334 single base substitution G A downstream_gene_variant MELA-AU 7 135070334 135070334 single base substitution G A intron_variant MELA-AU 7 135071916 135071916 single base substitution G A 3_prime_UTR_variant MELA-AU 7 135071916 135071916 single base substitution G A intron_variant MELA-AU 7 135072037 135072037 single base substitution G A 3_prime_UTR_variant MELA-AU 7 135072037 135072037 single base substitution G A intron_variant MELA-AU 7 135072088 135072088 single base substitution C G 3_prime_UTR_variant MELA-AU 7 135072088 135072088 single base substitution C G intron_variant MELA-AU 7 135072092 135072092 single base substitution G A 3_prime_UTR_variant MELA-AU 7 135072092 135072092 single base substitution G A intron_variant MELA-AU 7 135072189 135072189 single base substitution A G 3_prime_UTR_variant MELA-AU 7 135072189 135072189 single base substitution A G intron_variant MELA-AU 7 135072265 135072265 single base substitution C G 3_prime_UTR_variant MELA-AU 7 135072265 135072265 single base substitution C G intron_variant MELA-AU 7 135072361 135072361 single base substitution G A 3_prime_UTR_variant MELA-AU 7 135072361 135072361 single base substitution G A exon_variant MELA-AU 7 135072361 135072361 single base substitution G A intron_variant MELA-AU 7 135072481 135072481 single base substitution C G 3_prime_UTR_variant MELA-AU 7 135072481 135072481 single base substitution C G exon_variant MELA-AU 7 135072481 135072481 single base substitution C G intron_variant MELA-AU 7 135073476 135073476 single base substitution G A 3_prime_UTR_variant MELA-AU 7 135073476 135073476 single base substitution G A intron_variant MELA-AU 7 135073476 135073476 single base substitution G A upstream_gene_variant MELA-AU 7 135073644 135073644 single base substitution C T intron_variant MELA-AU 7 135073644 135073644 single base substitution C T missense_variant E541K 1621G>A MELA-AU 7 135073644 135073644 single base substitution C T missense_variant E544K 1630G>A MELA-AU 7 135073644 135073644 single base substitution C T upstream_gene_variant MELA-AU 7 135073948 135073948 deletion of <=200bp T - intron_variant MELA-AU 7 135073948 135073948 deletion of <=200bp T - upstream_gene_variant MELA-AU 7 135074115 135074115 single base substitution G A intron_variant MELA-AU 7 135074115 135074115 single base substitution G A upstream_gene_variant MELA-AU 7 135074334 135074334 single base substitution G A intron_variant MELA-AU 7 135074334 135074334 single base substitution G A upstream_gene_variant MELA-AU 7 135074801 135074801 single base substitution G A intron_variant MELA-AU 7 135074801 135074801 single base substitution G A upstream_gene_variant MELA-AU 7 135074971 135074971 single base substitution G A intron_variant MELA-AU 7 135074971 135074971 single base substitution G A upstream_gene_variant MELA-AU 7 135075121 135075121 single base substitution G A intron_variant MELA-AU 7 135075121 135075121 single base substitution G A upstream_gene_variant MELA-AU 7 135075141 135075141 single base substitution A C intron_variant MELA-AU 7 135075141 135075141 single base substitution A C upstream_gene_variant MELA-AU 7 135075850 135075850 single base substitution C T intron_variant MELA-AU 7 135075850 135075850 single base substitution C T upstream_gene_variant MELA-AU 7 135075919 135075919 single base substitution C T intron_variant MELA-AU 7 135075919 135075919 single base substitution C T upstream_gene_variant MELA-AU 7 135076294 135076294 single base substitution A G intron_variant MELA-AU 7 135076294 135076294 single base substitution A G upstream_gene_variant MELA-AU 7 135077259 135077259 single base substitution G A intron_variant MELA-AU 7 135077259 135077259 single base substitution G A upstream_gene_variant MELA-AU 7 135077305 135077305 single base substitution G A intron_variant MELA-AU 7 135077305 135077305 single base substitution G A upstream_gene_variant MELA-AU 7 135077871 135077871 single base substitution G A intron_variant MELA-AU 7 135078680 135078680 single base substitution G A intron_variant MELA-AU 7 135078680 135078680 single base substitution G A synonymous_variant I536I 1608C>T MELA-AU 7 135078680 135078680 single base substitution G A synonymous_variant I539I 1617C>T MELA-AU 7 135079708 135079708 single base substitution G A intron_variant MELA-AU 7 135079718 135079718 single base substitution G A intron_variant MELA-AU 7 135080511 135080511 single base substitution G A missense_variant S332L 995C>T MELA-AU 7 135080511 135080511 single base substitution G A missense_variant S335L 1004C>T MELA-AU 7 135080574 135080574 single base substitution G A missense_variant P311L 932C>T MELA-AU 7 135080574 135080574 single base substitution G A missense_variant P314L 941C>T MELA-AU 7 135080576 135080576 single base substitution G A synonymous_variant I310I 930C>T MELA-AU 7 135080576 135080576 single base substitution G A synonymous_variant I313I 939C>T MELA-AU 7 135080762 135080762 single base substitution G A intron_variant MELA-AU 7 135081067 135081067 single base substitution C T intron_variant MELA-AU 7 135081122 135081122 single base substitution G A intron_variant MELA-AU 7 135081275 135081275 single base substitution G A intron_variant MELA-AU 7 135081985 135081985 single base substitution G A intron_variant MELA-AU 7 135081994 135081994 single base substitution T C intron_variant MELA-AU 7 135082752 135082752 single base substitution C T intron_variant MELA-AU 7 135082767 135082767 single base substitution G A intron_variant MELA-AU 7 135083735 135083735 single base substitution G A intron_variant MELA-AU 7 135084211 135084211 single base substitution A G intron_variant MELA-AU 7 135084317 135084317 single base substitution G A intron_variant MELA-AU 7 135084362 135084362 single base substitution G A intron_variant MELA-AU 7 135084799 135084799 single base substitution G A intron_variant MELA-AU 7 135085354 135085354 single base substitution A G intron_variant MELA-AU 7 135085799 135085799 single base substitution A G intron_variant MELA-AU 7 135086117 135086118 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 135086244 135086244 single base substitution A T intron_variant MELA-AU 7 135086392 135086392 single base substitution G A intron_variant MELA-AU 7 135086621 135086621 single base substitution C T intron_variant MELA-AU 7 135086794 135086794 single base substitution G A intron_variant MELA-AU 7 135087100 135087100 single base substitution G A intron_variant MELA-AU 7 135087299 135087299 single base substitution G A intron_variant MELA-AU 7 135087319 135087319 single base substitution C T intron_variant MELA-AU 7 135087377 135087377 single base substitution G A intron_variant MELA-AU 7 135087884 135087884 single base substitution G A intron_variant MELA-AU 7 135088353 135088353 deletion of <=200bp A - intron_variant MELA-AU 7 135089317 135089317 single base substitution A G intron_variant MELA-AU 7 135089367 135089367 single base substitution G A intron_variant MELA-AU 7 135090943 135090943 single base substitution C T intron_variant MELA-AU 7 135091082 135091082 single base substitution T A intron_variant MELA-AU 7 135094566 135094566 single base substitution G A intron_variant MELA-AU 7 135094790 135094790 single base substitution C T intron_variant MELA-AU 7 135094826 135094826 single base substitution T C intron_variant MELA-AU 7 135094934 135094934 single base substitution G A intron_variant MELA-AU 7 135095408 135095408 single base substitution G A intron_variant MELA-AU 7 135095513 135095513 single base substitution A T intron_variant MELA-AU 7 135095629 135095629 single base substitution G A intron_variant MELA-AU 7 135095751 135095751 single base substitution C T intron_variant MELA-AU 7 135096993 135096993 single base substitution A T intron_variant MELA-AU 7 135097041 135097041 single base substitution C T intron_variant MELA-AU 7 135097229 135097229 single base substitution A T intron_variant MELA-AU 7 135097259 135097259 single base substitution C T intron_variant MELA-AU 7 135097357 135097357 single base substitution G A intron_variant MELA-AU 7 135099572 135099572 single base substitution A G intron_variant MELA-AU 7 135100375 135100375 single base substitution G A intron_variant MELA-AU 7 135100647 135100647 single base substitution G A intron_variant MELA-AU 7 135101193 135101193 single base substitution A G intron_variant MELA-AU 7 135101228 135101228 single base substitution G A intron_variant MELA-AU 7 135101610 135101610 single base substitution G A intron_variant MELA-AU 7 135102121 135102121 single base substitution T C downstream_gene_variant MELA-AU 7 135102121 135102121 single base substitution T C intron_variant MELA-AU 7 135102133 135102133 single base substitution C T downstream_gene_variant MELA-AU 7 135102133 135102133 single base substitution C T intron_variant MELA-AU 7 135103115 135103115 single base substitution C T downstream_gene_variant MELA-AU 7 135103115 135103115 single base substitution C T intron_variant MELA-AU 7 135103354 135103354 single base substitution G A downstream_gene_variant MELA-AU 7 135103354 135103354 single base substitution G A intron_variant MELA-AU 7 135103473 135103473 single base substitution G A downstream_gene_variant MELA-AU 7 135103473 135103473 single base substitution G A intron_variant MELA-AU 7 135103583 135103583 single base substitution C T downstream_gene_variant MELA-AU 7 135103583 135103583 single base substitution C T intron_variant MELA-AU 7 135103633 135103633 single base substitution T C downstream_gene_variant MELA-AU 7 135103633 135103633 single base substitution T C intron_variant MELA-AU 7 135103860 135103860 single base substitution C G downstream_gene_variant MELA-AU 7 135103860 135103860 single base substitution C G intron_variant MELA-AU 7 135104283 135104283 single base substitution G A downstream_gene_variant MELA-AU 7 135104283 135104283 single base substitution G A intron_variant MELA-AU 7 135105088 135105088 single base substitution G A downstream_gene_variant MELA-AU 7 135105088 135105088 single base substitution G A intron_variant MELA-AU 7 135106484 135106484 single base substitution G A downstream_gene_variant MELA-AU 7 135106484 135106484 single base substitution G A intron_variant MELA-AU 7 135106813 135106813 single base substitution G A downstream_gene_variant MELA-AU 7 135106813 135106813 single base substitution G A intron_variant MELA-AU 7 135106947 135106947 single base substitution G A downstream_gene_variant MELA-AU 7 135106947 135106947 single base substitution G A synonymous_variant L110L 330C>T MELA-AU 7 135107208 135107208 single base substitution C T intron_variant MELA-AU 7 135108273 135108273 single base substitution G A intron_variant MELA-AU 7 135108530 135108530 single base substitution G A intron_variant MELA-AU 7 135109588 135109588 single base substitution G A intron_variant MELA-AU 7 135111142 135111142 single base substitution G A intron_variant MELA-AU 7 135111599 135111599 single base substitution G A intron_variant MELA-AU 7 135111739 135111739 single base substitution G A intron_variant MELA-AU 7 135111866 135111866 single base substitution T C intron_variant MELA-AU 7 135112069 135112069 single base substitution G A intron_variant MELA-AU 7 135112460 135112460 single base substitution G A intron_variant MELA-AU 7 135112545 135112545 single base substitution C T intron_variant MELA-AU 7 135112833 135112833 single base substitution G A intron_variant MELA-AU 7 135112853 135112860 deletion of <=200bp ACCATCCT - intron_variant MELA-AU 7 135113462 135113462 single base substitution G A intron_variant MELA-AU 7 135114522 135114522 single base substitution G A intron_variant MELA-AU 7 135114646 135114646 single base substitution G A intron_variant MELA-AU 7 135114761 135114761 single base substitution G A intron_variant MELA-AU 7 135115370 135115370 single base substitution G A intron_variant MELA-AU 7 135115787 135115787 single base substitution G A intron_variant MELA-AU 7 135115823 135115823 single base substitution G A intron_variant MELA-AU 7 135116199 135116199 single base substitution G A intron_variant MELA-AU 7 135116478 135116478 single base substitution G A intron_variant MELA-AU 7 135117562 135117562 single base substitution G A intron_variant MELA-AU 7 135117773 135117773 single base substitution G A intron_variant MELA-AU 7 135117861 135117861 single base substitution G A intron_variant MELA-AU 7 135118443 135118443 single base substitution T A intron_variant MELA-AU 7 135118584 135118584 single base substitution C T intron_variant MELA-AU 7 135119267 135119267 single base substitution T C intron_variant MELA-AU 7 135119449 135119449 single base substitution G A intron_variant MELA-AU 7 135120463 135120463 single base substitution G T intron_variant MELA-AU 7 135120469 135120469 single base substitution C T intron_variant MELA-AU 7 135121101 135121101 single base substitution G A intron_variant MELA-AU 7 135121140 135121140 single base substitution C T intron_variant MELA-AU 7 135121956 135121956 single base substitution G A intron_variant MELA-AU 7 135122101 135122101 single base substitution C T intron_variant MELA-AU 7 135122314 135122314 single base substitution C T intron_variant MELA-AU 7 135122434 135122434 single base substitution T C intron_variant MELA-AU 7 135125179 135125179 single base substitution G A intron_variant MELA-AU 7 135125179 135125179 single base substitution G A upstream_gene_variant MELA-AU 7 135126034 135126034 single base substitution G A intron_variant MELA-AU 7 135126034 135126034 single base substitution G A upstream_gene_variant MELA-AU 7 135126307 135126307 single base substitution T G intron_variant MELA-AU 7 135126307 135126307 single base substitution T G upstream_gene_variant MELA-AU 7 135126522 135126522 single base substitution T C intron_variant MELA-AU 7 135126522 135126522 single base substitution T C upstream_gene_variant MELA-AU 7 135126892 135126892 single base substitution G A intron_variant MELA-AU 7 135126892 135126892 single base substitution G A upstream_gene_variant MELA-AU 7 135126893 135126893 single base substitution G A intron_variant MELA-AU 7 135126893 135126893 single base substitution G A upstream_gene_variant MELA-AU 7 135126971 135126971 single base substitution C T intron_variant MELA-AU 7 135126971 135126971 single base substitution C T upstream_gene_variant MELA-AU 7 135127145 135127145 single base substitution G A intron_variant MELA-AU 7 135127145 135127145 single base substitution G A upstream_gene_variant MELA-AU 7 135127282 135127282 single base substitution G A intron_variant MELA-AU 7 135127282 135127282 single base substitution G A upstream_gene_variant MELA-AU 7 135127504 135127504 single base substitution G A intron_variant MELA-AU 7 135127504 135127504 single base substitution G A upstream_gene_variant MELA-AU 7 135127724 135127724 single base substitution T C intron_variant MELA-AU 7 135127724 135127724 single base substitution T C upstream_gene_variant MELA-AU 7 135128818 135128818 single base substitution G A intron_variant MELA-AU 7 135129766 135129766 single base substitution T A intron_variant MELA-AU 7 135130850 135130850 single base substitution G A intron_variant MELA-AU 7 135131002 135131002 single base substitution G A intron_variant MELA-AU 7 135131076 135131076 single base substitution G A intron_variant MELA-AU 7 135131204 135131204 single base substitution G A intron_variant MELA-AU 7 135131253 135131253 single base substitution A G intron_variant MELA-AU 7 135131266 135131266 single base substitution G A intron_variant MELA-AU 7 135131594 135131594 single base substitution G A intron_variant MELA-AU 7 135132614 135132614 single base substitution G A intron_variant MELA-AU 7 135133005 135133005 single base substitution G A intron_variant MELA-AU 7 135133305 135133305 single base substitution G A intron_variant MELA-AU 7 135133342 135133342 single base substitution G A intron_variant MELA-AU 7 135133380 135133380 single base substitution A G intron_variant MELA-AU 7 135133930 135133930 single base substitution G A intron_variant MELA-AU 7 135133965 135133965 single base substitution C T intron_variant MELA-AU 7 135134854 135134854 single base substitution G A intron_variant MELA-AU 7 135134951 135134951 single base substitution A G intron_variant MELA-AU 7 135135540 135135540 single base substitution G T intron_variant MELA-AU 7 135136000 135136000 single base substitution G A intron_variant MELA-AU 7 135136994 135136994 single base substitution G A intron_variant MELA-AU 7 135137049 135137049 single base substitution G A intron_variant MELA-AU 7 135137286 135137286 single base substitution C T intron_variant MELA-AU 7 135137343 135137343 single base substitution A C intron_variant MELA-AU 7 135137982 135137982 single base substitution G A intron_variant MELA-AU 7 135138337 135138337 single base substitution T A intron_variant MELA-AU 7 135138388 135138388 single base substitution G A intron_variant MELA-AU 7 135138685 135138685 single base substitution A G intron_variant MELA-AU 7 135139223 135139223 single base substitution G A intron_variant MELA-AU 7 135139225 135139225 single base substitution A G intron_variant MELA-AU 7 135139226 135139227 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 7 135139264 135139264 single base substitution T A intron_variant MELA-AU 7 135140242 135140242 single base substitution G A intron_variant MELA-AU 7 135141229 135141229 single base substitution G A intron_variant MELA-AU 7 135141516 135141516 single base substitution T G intron_variant MELA-AU 7 135141789 135141789 single base substitution C T intron_variant MELA-AU 7 135141976 135141976 single base substitution G A intron_variant MELA-AU 7 135142335 135142335 single base substitution C T intron_variant MELA-AU 7 135143831 135143831 single base substitution C G intron_variant MELA-AU 7 135144020 135144020 single base substitution G A intron_variant MELA-AU 7 135144345 135144345 single base substitution G A intron_variant MELA-AU 7 135144525 135144525 single base substitution T C intron_variant MELA-AU 7 135146082 135146082 single base substitution A G intron_variant MELA-AU 7 135146283 135146283 single base substitution G A intron_variant MELA-AU 7 135146454 135146454 single base substitution C T intron_variant MELA-AU 7 135146569 135146569 single base substitution G A intron_variant MELA-AU 7 135146605 135146606 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 135146670 135146670 single base substitution G A intron_variant MELA-AU 7 135146853 135146853 single base substitution G A intron_variant MELA-AU 7 135146872 135146872 single base substitution G A intron_variant MELA-AU 7 135146913 135146913 single base substitution A C intron_variant MELA-AU 7 135147113 135147113 single base substitution G A intron_variant MELA-AU 7 135147244 135147244 single base substitution C G intron_variant MELA-AU 7 135147655 135147655 single base substitution G A intron_variant MELA-AU 7 135147656 135147656 single base substitution G A intron_variant MELA-AU 7 135148672 135148672 single base substitution G A intron_variant MELA-AU 7 135148755 135148755 single base substitution G A intron_variant MELA-AU 7 135149109 135149109 single base substitution G A intron_variant MELA-AU 7 135149421 135149421 single base substitution A T intron_variant MELA-AU 7 135149990 135149990 single base substitution G A intron_variant MELA-AU 7 135150353 135150353 single base substitution A T intron_variant MELA-AU 7 135151276 135151276 single base substitution G A intron_variant MELA-AU 7 135151377 135151377 single base substitution T C intron_variant MELA-AU 7 135152517 135152517 single base substitution G A intron_variant MELA-AU 7 135153081 135153081 single base substitution G A intron_variant MELA-AU 7 135153410 135153410 single base substitution G A intron_variant MELA-AU 7 135153634 135153634 single base substitution G A intron_variant MELA-AU 7 135154276 135154276 single base substitution G A intron_variant MELA-AU 7 135154548 135154548 single base substitution G A intron_variant MELA-AU 7 135155839 135155839 single base substitution G A intron_variant MELA-AU 7 135156316 135156316 single base substitution T G intron_variant MELA-AU 7 135156671 135156671 single base substitution A T intron_variant MELA-AU 7 135156713 135156713 single base substitution G A intron_variant MELA-AU 7 135156992 135156992 single base substitution G A intron_variant MELA-AU 7 135157599 135157599 single base substitution G A intron_variant MELA-AU 7 135158098 135158098 single base substitution T G intron_variant MELA-AU 7 135158730 135158730 single base substitution G A intron_variant MELA-AU 7 135159862 135159862 single base substitution G A intron_variant MELA-AU 7 135160123 135160123 single base substitution T C intron_variant MELA-AU 7 135160254 135160259 deletion of <=200bp ACAAAC - intron_variant MELA-AU 7 135160334 135160334 single base substitution G A intron_variant MELA-AU 7 135161648 135161648 single base substitution G A intron_variant MELA-AU 7 135161771 135161771 single base substitution C T intron_variant MELA-AU 7 135161904 135161904 single base substitution A G intron_variant MELA-AU 7 135162547 135162547 single base substitution G A intron_variant MELA-AU 7 135162598 135162598 single base substitution C A intron_variant MELA-AU 7 135164334 135164334 single base substitution G A intron_variant MELA-AU 7 135164419 135164419 single base substitution G A intron_variant MELA-AU 7 135164438 135164438 single base substitution G A intron_variant MELA-AU 7 135164661 135164661 single base substitution G A intron_variant MELA-AU 7 135165393 135165393 single base substitution T C intron_variant MELA-AU 7 135166378 135166378 single base substitution G A intron_variant MELA-AU 7 135167374 135167374 single base substitution G A intron_variant MELA-AU 7 135167856 135167856 single base substitution G A intron_variant MELA-AU 7 135168268 135168268 single base substitution G A intron_variant MELA-AU 7 135168604 135168604 single base substitution G A intron_variant MELA-AU 7 135168668 135168668 single base substitution G A intron_variant MELA-AU 7 135169425 135169425 single base substitution C T intron_variant MELA-AU 7 135170235 135170235 single base substitution G A intron_variant MELA-AU 7 135170358 135170358 single base substitution G A intron_variant MELA-AU 7 135171185 135171185 single base substitution A C intron_variant MELA-AU 7 135171703 135171703 single base substitution T C intron_variant MELA-AU 7 135172000 135172000 single base substitution T C intron_variant MELA-AU 7 135172788 135172788 single base substitution G A intron_variant MELA-AU 7 135172878 135172878 single base substitution G A intron_variant MELA-AU 7 135173013 135173013 single base substitution G A intron_variant MELA-AU 7 135173857 135173857 single base substitution G A intron_variant MELA-AU 7 135175008 135175008 single base substitution G A intron_variant MELA-AU 7 135175218 135175218 single base substitution G A intron_variant MELA-AU 7 135175845 135175845 single base substitution A C intron_variant MELA-AU 7 135176586 135176586 single base substitution G A intron_variant MELA-AU 7 135177976 135177976 single base substitution A C intron_variant MELA-AU 7 135178134 135178134 single base substitution T C intron_variant MELA-AU 7 135178248 135178248 single base substitution G A intron_variant MELA-AU 7 135178282 135178282 single base substitution G A intron_variant MELA-AU 7 135178400 135178400 single base substitution G A intron_variant MELA-AU 7 135178514 135178514 single base substitution G A intron_variant MELA-AU 7 135178559 135178559 single base substitution G A intron_variant MELA-AU 7 135178980 135178980 single base substitution G A intron_variant MELA-AU 7 135179020 135179021 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 135179131 135179131 insertion of <=200bp - T intron_variant MELA-AU 7 135179153 135179153 single base substitution G A intron_variant MELA-AU 7 135179548 135179548 single base substitution T C intron_variant MELA-AU 7 135179637 135179637 single base substitution C T intron_variant MELA-AU 7 135179705 135179705 single base substitution G A intron_variant MELA-AU 7 135179786 135179786 single base substitution G A intron_variant MELA-AU 7 135179807 135179808 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 7 135179976 135179976 single base substitution G A intron_variant MELA-AU 7 135180161 135180161 single base substitution G A intron_variant MELA-AU 7 135180240 135180240 single base substitution G A intron_variant MELA-AU 7 135180341 135180341 single base substitution C T intron_variant MELA-AU 7 135181118 135181118 single base substitution G A intron_variant MELA-AU 7 135181210 135181210 single base substitution C T intron_variant MELA-AU 7 135181236 135181236 single base substitution G A intron_variant MELA-AU 7 135181689 135181689 single base substitution G A intron_variant MELA-AU 7 135182314 135182314 single base substitution A G intron_variant MELA-AU 7 135182559 135182559 single base substitution C T intron_variant MELA-AU 7 135182942 135182942 single base substitution A G intron_variant MELA-AU 7 135183320 135183321 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 135183432 135183432 single base substitution G A intron_variant MELA-AU 7 135183489 135183489 single base substitution G A intron_variant MELA-AU 7 135183941 135183941 single base substitution G A intron_variant MELA-AU 7 135184634 135184634 single base substitution G A intron_variant MELA-AU 7 135184774 135184774 single base substitution G A intron_variant MELA-AU 7 135185252 135185252 single base substitution A G intron_variant MELA-AU 7 135185669 135185669 single base substitution C T intron_variant MELA-AU 7 135185986 135185986 single base substitution G A intron_variant MELA-AU 7 135185997 135185997 single base substitution T C intron_variant MELA-AU 7 135186348 135186348 single base substitution G A intron_variant MELA-AU 7 135186641 135186641 single base substitution C T intron_variant MELA-AU 7 135186816 135186817 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 7 135187645 135187645 single base substitution G T intron_variant MELA-AU 7 135188383 135188383 single base substitution G A intron_variant MELA-AU 7 135188460 135188460 single base substitution A G intron_variant MELA-AU 7 135188537 135188537 single base substitution G A intron_variant MELA-AU 7 135189598 135189598 single base substitution G A intron_variant MELA-AU 7 135190714 135190714 single base substitution T C intron_variant MELA-AU 7 135191724 135191724 single base substitution G T intron_variant MELA-AU 7 135192309 135192309 single base substitution G A intron_variant MELA-AU 7 135193387 135193387 single base substitution G A intron_variant MELA-AU 7 135193792 135193792 single base substitution C T intron_variant MELA-AU 7 135194290 135194290 single base substitution G A intron_variant MELA-AU 7 135195668 135195668 single base substitution C T upstream_gene_variant MELA-AU 7 135196112 135196112 single base substitution G A upstream_gene_variant MELA-AU 7 135196565 135196565 single base substitution C T upstream_gene_variant MELA-AU 7 135196892 135196892 single base substitution G A upstream_gene_variant MELA-AU 7 135197332 135197332 single base substitution C T upstream_gene_variant MELA-AU 7 135197511 135197511 single base substitution C T upstream_gene_variant MELA-AU 7 135197875 135197875 single base substitution T C upstream_gene_variant MELA-AU 7 135198220 135198220 single base substitution G A upstream_gene_variant MELA-AU 7 135198238 135198238 single base substitution C T upstream_gene_variant MELA-AU 7 135198257 135198257 single base substitution G A upstream_gene_variant MELA-AU 7 135198263 135198263 single base substitution C T upstream_gene_variant MELA-AU 7 135198447 135198447 single base substitution A T upstream_gene_variant MELA-AU 7 135198449 135198449 single base substitution T A upstream_gene_variant MELA-AU 7 135198451 135198451 single base substitution A T upstream_gene_variant MELA-AU 7 135198714 135198714 single base substitution G C upstream_gene_variant MELA-AU 7 135198738 135198738 single base substitution C T upstream_gene_variant MELA-AU 7 135198766 135198766 single base substitution G A upstream_gene_variant MELA-AU 7 135198914 135198914 single base substitution G A upstream_gene_variant MELA-AU 7 135198929 135198929 single base substitution C T upstream_gene_variant MELA-AU 7 135199277 135199277 single base substitution G A upstream_gene_variant MELA-AU 7 135199383 135199383 single base substitution G A upstream_gene_variant MELA-AU 7 135199403 135199403 single base substitution G A upstream_gene_variant MELA-AU 7 135199824 135199824 single base substitution G A upstream_gene_variant MELA-AU 7 135199872 135199872 single base substitution C T upstream_gene_variant ORCA-IN 7 135051737 135051737 single base substitution G T intron_variant ORCA-IN 7 135057133 135057134 deletion of <=200bp CA - intron_variant ORCA-IN 7 135061413 135061413 single base substitution C G intron_variant ORCA-IN 7 135094662 135094662 single base substitution C T intron_variant ORCA-IN 7 135115556 135115556 single base substitution G C intron_variant ORCA-IN 7 135121272 135121272 single base substitution T A intron_variant ORCA-IN 7 135122994 135122994 deletion of <=200bp A - exon_variant ORCA-IN 7 135122994 135122994 deletion of <=200bp A - frameshift_variant F29 ORCA-IN 7 135144377 135144377 single base substitution C T intron_variant ORCA-IN 7 135180644 135180644 single base substitution T A intron_variant ORCA-IN 7 135181891 135181891 single base substitution C T intron_variant OV-AU 7 135043030 135043030 single base substitution A C downstream_gene_variant OV-AU 7 135051439 135051439 single base substitution A T intron_variant OV-AU 7 135052581 135052581 single base substitution T C intron_variant OV-AU 7 135054865 135054865 single base substitution A G intron_variant OV-AU 7 135055887 135055887 single base substitution T C intron_variant OV-AU 7 135055888 135055888 single base substitution C A intron_variant OV-AU 7 135062776 135062776 single base substitution G C intron_variant OV-AU 7 135065727 135065727 single base substitution G A downstream_gene_variant OV-AU 7 135065727 135065727 single base substitution G A intron_variant OV-AU 7 135067422 135067422 single base substitution A T downstream_gene_variant OV-AU 7 135067422 135067422 single base substitution A T intron_variant OV-AU 7 135069423 135069423 single base substitution G A 3_prime_UTR_variant OV-AU 7 135069423 135069423 single base substitution G A downstream_gene_variant OV-AU 7 135069423 135069423 single base substitution G A intron_variant OV-AU 7 135075384 135075384 single base substitution G C intron_variant OV-AU 7 135075384 135075384 single base substitution G C upstream_gene_variant OV-AU 7 135075863 135075863 single base substitution T C intron_variant OV-AU 7 135075863 135075863 single base substitution T C upstream_gene_variant OV-AU 7 135080201 135080201 single base substitution T C intron_variant OV-AU 7 135080631 135080631 single base substitution G A missense_variant S292F 875C>T OV-AU 7 135080631 135080631 single base substitution G A missense_variant S295F 884C>T OV-AU 7 135085370 135085370 single base substitution G A intron_variant OV-AU 7 135085984 135085984 single base substitution G A intron_variant OV-AU 7 135087994 135087994 single base substitution C A intron_variant OV-AU 7 135089120 135089120 single base substitution A C intron_variant OV-AU 7 135091958 135091958 single base substitution C T intron_variant OV-AU 7 135101908 135101908 single base substitution T G intron_variant OV-AU 7 135105030 135105030 single base substitution G A downstream_gene_variant OV-AU 7 135105030 135105030 single base substitution G A intron_variant OV-AU 7 135105250 135105250 single base substitution C T downstream_gene_variant OV-AU 7 135105250 135105250 single base substitution C T intron_variant OV-AU 7 135114916 135114916 single base substitution C T intron_variant OV-AU 7 135124611 135124611 single base substitution C A intron_variant OV-AU 7 135124611 135124611 single base substitution C A upstream_gene_variant OV-AU 7 135137321 135137321 single base substitution G C intron_variant OV-AU 7 135138739 135138739 single base substitution T C intron_variant OV-AU 7 135139322 135139322 single base substitution T G intron_variant OV-AU 7 135154885 135154885 single base substitution G T intron_variant OV-AU 7 135178976 135178976 single base substitution G C intron_variant OV-AU 7 135181189 135181189 single base substitution C T intron_variant OV-AU 7 135183137 135183137 single base substitution C T intron_variant OV-AU 7 135184086 135184086 single base substitution T C intron_variant OV-AU 7 135184649 135184649 single base substitution T G intron_variant OV-AU 7 135192002 135192002 single base substitution C A intron_variant OV-US 7 135129800 135129800 single base substitution T C intron_variant PACA-AU 7 135041947 135041950 deletion of <=200bp TAAG - downstream_gene_variant PACA-AU 7 135042110 135042110 single base substitution G C downstream_gene_variant PACA-AU 7 135042215 135042215 single base substitution C G downstream_gene_variant PACA-AU 7 135043767 135043767 single base substitution C A downstream_gene_variant PACA-AU 7 135043810 135043810 insertion of <=200bp - T downstream_gene_variant PACA-AU 7 135054033 135054033 single base substitution G T intron_variant PACA-AU 7 135054532 135054532 single base substitution G A intron_variant PACA-AU 7 135054794 135054794 single base substitution T C intron_variant PACA-AU 7 135061866 135061866 deletion of <=200bp T - intron_variant PACA-AU 7 135062145 135062145 single base substitution G A intron_variant PACA-AU 7 135065662 135065662 deletion of <=200bp T - downstream_gene_variant PACA-AU 7 135065662 135065662 deletion of <=200bp T - intron_variant PACA-AU 7 135069045 135069045 single base substitution T C 3_prime_UTR_variant PACA-AU 7 135069045 135069045 single base substitution T C downstream_gene_variant PACA-AU 7 135069045 135069045 single base substitution T C intron_variant PACA-AU 7 135072549 135072549 single base substitution C T 3_prime_UTR_variant PACA-AU 7 135072549 135072549 single base substitution C T exon_variant PACA-AU 7 135072549 135072549 single base substitution C T intron_variant PACA-AU 7 135079414 135079414 deletion of <=200bp A - intron_variant PACA-AU 7 135080337 135080337 single base substitution C A intron_variant PACA-AU 7 135080608 135080608 single base substitution G C missense_variant P300A 898C>G PACA-AU 7 135080608 135080608 single base substitution G C missense_variant P303A 907C>G PACA-AU 7 135082485 135082485 single base substitution A T intron_variant PACA-AU 7 135085064 135085064 single base substitution T C intron_variant PACA-AU 7 135085896 135085896 single base substitution G A intron_variant PACA-AU 7 135086472 135086472 single base substitution T C intron_variant PACA-AU 7 135091459 135091459 single base substitution C T intron_variant PACA-AU 7 135092495 135092495 single base substitution C T intron_variant PACA-AU 7 135093575 135093575 single base substitution G T intron_variant PACA-AU 7 135108235 135108235 single base substitution C A intron_variant PACA-AU 7 135112511 135112511 single base substitution A T intron_variant PACA-AU 7 135113508 135113508 single base substitution A T intron_variant PACA-AU 7 135115234 135115234 single base substitution A T intron_variant PACA-AU 7 135116423 135116423 single base substitution T G intron_variant PACA-AU 7 135117650 135117650 single base substitution T A intron_variant PACA-AU 7 135123937 135123937 single base substitution T A intron_variant PACA-AU 7 135123937 135123937 single base substitution T A upstream_gene_variant PACA-AU 7 135124401 135124401 deletion of <=200bp A - intron_variant PACA-AU 7 135124401 135124401 deletion of <=200bp A - upstream_gene_variant PACA-AU 7 135127863 135127863 single base substitution C T intron_variant PACA-AU 7 135127863 135127863 single base substitution C T upstream_gene_variant PACA-AU 7 135132252 135132252 single base substitution T G intron_variant PACA-AU 7 135132450 135132450 single base substitution A G intron_variant PACA-AU 7 135135552 135135552 single base substitution G A intron_variant PACA-AU 7 135140323 135140323 single base substitution A T intron_variant PACA-AU 7 135140505 135140505 single base substitution C T intron_variant PACA-AU 7 135163906 135163906 single base substitution G A intron_variant PACA-AU 7 135170840 135170840 single base substitution C T intron_variant PACA-AU 7 135180214 135180214 single base substitution T C intron_variant PACA-AU 7 135183171 135183171 single base substitution G T intron_variant PACA-AU 7 135194818 135194818 single base substitution G A 5_prime_UTR_variant PACA-AU 7 135194818 135194818 single base substitution G A upstream_gene_variant PACA-AU 7 135197963 135197963 insertion of <=200bp - T upstream_gene_variant PACA-CA 7 135043812 135043812 insertion of <=200bp - T downstream_gene_variant PACA-CA 7 135046797 135046797 single base substitution G C 3_prime_UTR_variant PACA-CA 7 135046797 135046797 single base substitution G C downstream_gene_variant PACA-CA 7 135047904 135047904 single base substitution A C exon_variant PACA-CA 7 135047904 135047904 single base substitution A C synonymous_variant S551S 1653T>G PACA-CA 7 135047904 135047904 single base substitution A C synonymous_variant S554S 1662T>G PACA-CA 7 135047904 135047904 single base substitution A C synonymous_variant S622S 1866T>G PACA-CA 7 135047904 135047904 single base substitution A C synonymous_variant S625S 1875T>G PACA-CA 7 135048836 135048836 deletion of <=200bp A - intron_variant PACA-CA 7 135053822 135053822 single base substitution C T intron_variant PACA-CA 7 135054185 135054185 single base substitution T C intron_variant PACA-CA 7 135054670 135054670 single base substitution T G intron_variant PACA-CA 7 135055271 135055271 single base substitution C T intron_variant PACA-CA 7 135056383 135056383 single base substitution A G intron_variant PACA-CA 7 135058982 135058982 single base substitution C T intron_variant PACA-CA 7 135060677 135060677 deletion of <=200bp A - intron_variant PACA-CA 7 135065532 135065532 single base substitution C A downstream_gene_variant PACA-CA 7 135065532 135065532 single base substitution C A intron_variant PACA-CA 7 135065892 135065892 single base substitution G C downstream_gene_variant PACA-CA 7 135065892 135065892 single base substitution G C intron_variant PACA-CA 7 135067606 135067606 single base substitution A C downstream_gene_variant PACA-CA 7 135067606 135067606 single base substitution A C intron_variant PACA-CA 7 135069136 135069136 single base substitution G A 3_prime_UTR_variant PACA-CA 7 135069136 135069136 single base substitution G A downstream_gene_variant PACA-CA 7 135069136 135069136 single base substitution G A intron_variant PACA-CA 7 135073398 135073398 single base substitution G A 3_prime_UTR_variant PACA-CA 7 135073398 135073398 single base substitution G A intron_variant PACA-CA 7 135073398 135073398 single base substitution G A upstream_gene_variant PACA-CA 7 135076447 135076447 single base substitution A C intron_variant PACA-CA 7 135076447 135076447 single base substitution A C upstream_gene_variant PACA-CA 7 135080511 135080511 single base substitution G A missense_variant S332L 995C>T PACA-CA 7 135080511 135080511 single base substitution G A missense_variant S335L 1004C>T PACA-CA 7 135088412 135088412 single base substitution A T intron_variant PACA-CA 7 135095358 135095358 single base substitution T C missense_variant E243G 728A>G PACA-CA 7 135099309 135099309 single base substitution T C intron_variant PACA-CA 7 135101126 135101126 single base substitution G T intron_variant PACA-CA 7 135102050 135102050 single base substitution G A downstream_gene_variant PACA-CA 7 135102050 135102050 single base substitution G A intron_variant PACA-CA 7 135105862 135105862 single base substitution G A downstream_gene_variant PACA-CA 7 135105862 135105862 single base substitution G A intron_variant PACA-CA 7 135106115 135106115 single base substitution C T downstream_gene_variant PACA-CA 7 135106115 135106115 single base substitution C T intron_variant PACA-CA 7 135109093 135109093 single base substitution C T intron_variant PACA-CA 7 135109123 135109123 single base substitution A G intron_variant PACA-CA 7 135112248 135112248 single base substitution C T intron_variant PACA-CA 7 135114160 135114160 single base substitution C T intron_variant PACA-CA 7 135120107 135120107 single base substitution C G intron_variant PACA-CA 7 135126971 135126971 single base substitution C T intron_variant PACA-CA 7 135126971 135126971 single base substitution C T upstream_gene_variant PACA-CA 7 135127505 135127505 deletion of <=200bp A - intron_variant PACA-CA 7 135127505 135127505 deletion of <=200bp A - upstream_gene_variant PACA-CA 7 135133096 135133108 deletion of <=200bp GCCTGGCCAACAT - intron_variant PACA-CA 7 135141421 135141421 single base substitution A G intron_variant PACA-CA 7 135141508 135141508 single base substitution C A intron_variant PACA-CA 7 135145219 135145219 single base substitution C T intron_variant PACA-CA 7 135146405 135146405 deletion of <=200bp C - intron_variant PACA-CA 7 135146864 135146864 deletion of <=200bp A - intron_variant PACA-CA 7 135150092 135150092 single base substitution G A intron_variant PACA-CA 7 135150492 135150492 single base substitution T A intron_variant PACA-CA 7 135151699 135151699 single base substitution C T intron_variant PACA-CA 7 135155350 135155350 single base substitution C T intron_variant PACA-CA 7 135159267 135159267 single base substitution C T intron_variant PACA-CA 7 135161542 135161542 single base substitution A C intron_variant PACA-CA 7 135162939 135162939 single base substitution A T intron_variant PACA-CA 7 135165984 135165984 insertion of <=200bp - A intron_variant PACA-CA 7 135167394 135167394 single base substitution G A intron_variant PACA-CA 7 135171113 135171113 single base substitution G A intron_variant PACA-CA 7 135171926 135171926 single base substitution G C intron_variant PACA-CA 7 135172583 135172583 single base substitution C T intron_variant PACA-CA 7 135173670 135173670 single base substitution A G intron_variant PACA-CA 7 135177129 135177129 single base substitution G T intron_variant PACA-CA 7 135178563 135178563 single base substitution T C intron_variant PACA-CA 7 135179304 135179304 single base substitution T G intron_variant PACA-CA 7 135179938 135179938 single base substitution G T intron_variant PACA-CA 7 135182602 135182602 single base substitution G A intron_variant PACA-CA 7 135186932 135186932 single base substitution T C intron_variant PACA-CA 7 135198629 135198629 single base substitution C T upstream_gene_variant PAEN-AU 7 135044281 135044281 single base substitution A G downstream_gene_variant PAEN-AU 7 135059328 135059328 single base substitution C T intron_variant PAEN-AU 7 135065673 135065673 single base substitution T C downstream_gene_variant PAEN-AU 7 135065673 135065673 single base substitution T C intron_variant PAEN-AU 7 135089786 135089786 single base substitution T C intron_variant PAEN-AU 7 135147171 135147171 single base substitution G A intron_variant PAEN-AU 7 135178583 135178583 single base substitution G A intron_variant PAEN-AU 7 135186695 135186695 single base substitution G A intron_variant PAEN-AU 7 135197114 135197114 deletion of <=200bp T - upstream_gene_variant PAEN-IT 7 135082804 135082804 single base substitution C T intron_variant PAEN-IT 7 135114953 135114953 single base substitution G T intron_variant PAEN-IT 7 135121726 135121726 single base substitution G T intron_variant PAEN-IT 7 135128843 135128843 single base substitution G T intron_variant PBCA-DE 7 135053228 135053228 single base substitution T C intron_variant PBCA-DE 7 135064221 135064221 single base substitution T A downstream_gene_variant PBCA-DE 7 135064221 135064221 single base substitution T A intron_variant PBCA-DE 7 135064366 135064366 single base substitution T C downstream_gene_variant PBCA-DE 7 135064366 135064366 single base substitution T C intron_variant PBCA-DE 7 135078339 135078339 single base substitution G A intron_variant PBCA-DE 7 135089129 135089129 single base substitution G A intron_variant PBCA-DE 7 135094585 135094585 single base substitution T A intron_variant PBCA-DE 7 135114742 135114742 single base substitution C A intron_variant PBCA-DE 7 135146883 135146883 single base substitution A T intron_variant PBCA-DE 7 135168483 135168483 single base substitution G A intron_variant PBCA-DE 7 135173103 135173103 single base substitution G C intron_variant PBCA-DE 7 135182606 135182606 single base substitution A C intron_variant PBCA-DE 7 135183530 135183530 single base substitution C T intron_variant PBCA-DE 7 135185248 135185248 insertion of <=200bp - A intron_variant PBCA-DE 7 135186190 135186190 single base substitution G T intron_variant PBCA-DE 7 135194532 135194532 single base substitution T G intron_variant PBCA-DE 7 135194532 135194532 single base substitution T G upstream_gene_variant PBCA-DE 7 135197356 135197356 single base substitution C T upstream_gene_variant PRAD-CA 7 135048037 135048037 single base substitution G C intron_variant PRAD-CA 7 135069043 135069043 single base substitution T C 3_prime_UTR_variant PRAD-CA 7 135069043 135069043 single base substitution T C downstream_gene_variant PRAD-CA 7 135069043 135069043 single base substitution T C intron_variant PRAD-CA 7 135069248 135069248 single base substitution A T 3_prime_UTR_variant PRAD-CA 7 135069248 135069248 single base substitution A T downstream_gene_variant PRAD-CA 7 135069248 135069248 single base substitution A T intron_variant PRAD-CA 7 135086339 135086339 single base substitution A T intron_variant PRAD-CA 7 135091409 135091409 single base substitution A T intron_variant PRAD-CA 7 135097861 135097861 single base substitution A T intron_variant PRAD-CA 7 135115834 135115834 single base substitution C A intron_variant PRAD-CA 7 135173379 135173379 single base substitution G T intron_variant PRAD-UK 7 135042756 135042756 single base substitution T C downstream_gene_variant PRAD-UK 7 135057403 135057403 single base substitution A C intron_variant PRAD-UK 7 135061119 135061119 single base substitution A T intron_variant PRAD-UK 7 135092649 135092649 single base substitution T G intron_variant PRAD-UK 7 135123285 135123285 single base substitution T C intron_variant PRAD-UK 7 135123285 135123285 single base substitution T C upstream_gene_variant PRAD-UK 7 135135861 135135871 deletion of <=200bp AATTGCAGGAA - intron_variant PRAD-UK 7 135140433 135140433 single base substitution G C intron_variant PRAD-UK 7 135143958 135143958 deletion of <=200bp T - intron_variant PRAD-UK 7 135148306 135148306 single base substitution A C intron_variant PRAD-UK 7 135148307 135148307 single base substitution A C intron_variant PRAD-UK 7 135153096 135153096 single base substitution C T intron_variant PRAD-UK 7 135166391 135166391 single base substitution A C intron_variant PRAD-UK 7 135173161 135173161 single base substitution G A intron_variant PRAD-UK 7 135183876 135183876 single base substitution T A intron_variant PRAD-UK 7 135199636 135199637 deletion of <=200bp TT - upstream_gene_variant PRAD-US 7 135106938 135106938 single base substitution A C downstream_gene_variant PRAD-US 7 135106938 135106938 single base substitution A C synonymous_variant V113V 339T>G READ-US 7 135123072 135123072 single base substitution C T exon_variant READ-US 7 135123072 135123072 single base substitution C T missense_variant R3H 8G>A RECA-EU 7 135041576 135041576 single base substitution T A downstream_gene_variant RECA-EU 7 135042747 135042747 single base substitution G T downstream_gene_variant RECA-EU 7 135046387 135046387 single base substitution T A downstream_gene_variant RECA-EU 7 135065927 135065927 single base substitution A C downstream_gene_variant RECA-EU 7 135065927 135065927 single base substitution A C intron_variant RECA-EU 7 135088786 135088786 single base substitution A C intron_variant RECA-EU 7 135091606 135091606 single base substitution G A intron_variant RECA-EU 7 135119614 135119614 single base substitution C T intron_variant RECA-EU 7 135121825 135121825 single base substitution C T intron_variant RECA-EU 7 135122168 135122168 single base substitution A G intron_variant RECA-EU 7 135122986 135122986 single base substitution T A exon_variant RECA-EU 7 135122986 135122986 single base substitution T A missense_variant T32S 94A>T RECA-EU 7 135139548 135139548 single base substitution C A intron_variant RECA-EU 7 135143280 135143280 single base substitution T A intron_variant RECA-EU 7 135148650 135148650 single base substitution T G intron_variant RECA-EU 7 135150135 135150135 single base substitution T C intron_variant RECA-EU 7 135154067 135154067 single base substitution T G intron_variant RECA-EU 7 135155936 135155936 single base substitution G A intron_variant RECA-EU 7 135178716 135178716 single base substitution A G intron_variant RECA-EU 7 135189232 135189232 single base substitution T A intron_variant RECA-EU 7 135190052 135190052 single base substitution C A intron_variant RECA-EU 7 135196762 135196762 single base substitution C T upstream_gene_variant SKCA-BR 7 135041707 135041707 single base substitution T C downstream_gene_variant SKCA-BR 7 135043258 135043258 single base substitution C T downstream_gene_variant SKCA-BR 7 135043777 135043777 single base substitution A G downstream_gene_variant SKCA-BR 7 135044943 135044943 single base substitution G A downstream_gene_variant SKCA-BR 7 135047109 135047109 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 135047109 135047109 single base substitution G A downstream_gene_variant SKCA-BR 7 135052226 135052226 single base substitution C T intron_variant SKCA-BR 7 135053462 135053462 single base substitution A G intron_variant SKCA-BR 7 135054371 135054371 single base substitution G A intron_variant SKCA-BR 7 135058412 135058412 single base substitution T C intron_variant SKCA-BR 7 135058415 135058415 single base substitution A C intron_variant SKCA-BR 7 135058603 135058603 single base substitution G A intron_variant SKCA-BR 7 135058755 135058755 single base substitution G A intron_variant SKCA-BR 7 135061276 135061276 single base substitution T G intron_variant SKCA-BR 7 135063736 135063736 insertion of <=200bp - CA intron_variant SKCA-BR 7 135065432 135065432 single base substitution T A downstream_gene_variant SKCA-BR 7 135065432 135065432 single base substitution T A intron_variant SKCA-BR 7 135069162 135069162 single base substitution G C 3_prime_UTR_variant SKCA-BR 7 135069162 135069162 single base substitution G C downstream_gene_variant SKCA-BR 7 135069162 135069162 single base substitution G C intron_variant SKCA-BR 7 135073909 135073910 deletion of <=200bp CA - intron_variant SKCA-BR 7 135073909 135073910 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 7 135078073 135078073 single base substitution G A intron_variant SKCA-BR 7 135078801 135078801 single base substitution G A intron_variant SKCA-BR 7 135078801 135078801 single base substitution G A missense_variant P496L 1487C>T SKCA-BR 7 135078801 135078801 single base substitution G A missense_variant P499L 1496C>T SKCA-BR 7 135079026 135079026 single base substitution G A intron_variant SKCA-BR 7 135079026 135079026 single base substitution G A missense_variant S421F 1262C>T SKCA-BR 7 135079026 135079026 single base substitution G A missense_variant S424F 1271C>T SKCA-BR 7 135083470 135083470 single base substitution G A intron_variant SKCA-BR 7 135084558 135084558 single base substitution A T intron_variant SKCA-BR 7 135092949 135092949 single base substitution T C intron_variant SKCA-BR 7 135094552 135094552 single base substitution G A intron_variant SKCA-BR 7 135097175 135097175 single base substitution G A intron_variant SKCA-BR 7 135103457 135103457 single base substitution A C downstream_gene_variant SKCA-BR 7 135103457 135103457 single base substitution A C intron_variant SKCA-BR 7 135103660 135103660 single base substitution T G downstream_gene_variant SKCA-BR 7 135103660 135103660 single base substitution T G intron_variant SKCA-BR 7 135104790 135104790 insertion of <=200bp - CAAACA downstream_gene_variant SKCA-BR 7 135104790 135104790 insertion of <=200bp - CAAACA intron_variant SKCA-BR 7 135108785 135108795 deletion of <=200bp ACAAAACACAC - intron_variant SKCA-BR 7 135121676 135121676 single base substitution C T intron_variant SKCA-BR 7 135122944 135122944 single base substitution G A exon_variant SKCA-BR 7 135122944 135122944 single base substitution G A missense_variant R46C 136C>T SKCA-BR 7 135125468 135125468 single base substitution G A intron_variant SKCA-BR 7 135125468 135125468 single base substitution G A upstream_gene_variant SKCA-BR 7 135126432 135126432 single base substitution G A intron_variant SKCA-BR 7 135126432 135126432 single base substitution G A upstream_gene_variant SKCA-BR 7 135127936 135127937 deletion of <=200bp CA - intron_variant SKCA-BR 7 135127936 135127937 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 7 135128892 135128895 deletion of <=200bp AAAT - intron_variant SKCA-BR 7 135133290 135133290 single base substitution A G intron_variant SKCA-BR 7 135138574 135138574 insertion of <=200bp - TTATATATATATATA intron_variant SKCA-BR 7 135138574 135138574 insertion of <=200bp - TTATATATATATATATA intron_variant SKCA-BR 7 135138737 135138737 single base substitution C T intron_variant SKCA-BR 7 135139264 135139264 insertion of <=200bp - TA intron_variant SKCA-BR 7 135143189 135143189 single base substitution A T intron_variant SKCA-BR 7 135150866 135150866 insertion of <=200bp - TTG intron_variant SKCA-BR 7 135157031 135157031 single base substitution C T intron_variant SKCA-BR 7 135157220 135157220 single base substitution G A intron_variant SKCA-BR 7 135158730 135158731 deletion of <=200bp GT - intron_variant SKCA-BR 7 135158786 135158786 insertion of <=200bp - GGTGCAATC intron_variant SKCA-BR 7 135159873 135159873 single base substitution G A intron_variant SKCA-BR 7 135160688 135160688 single base substitution G A intron_variant SKCA-BR 7 135161138 135161138 single base substitution C G intron_variant SKCA-BR 7 135167307 135167307 single base substitution G A intron_variant SKCA-BR 7 135167764 135167764 single base substitution G A intron_variant SKCA-BR 7 135169567 135169567 single base substitution G A intron_variant SKCA-BR 7 135173149 135173149 single base substitution A G intron_variant SKCA-BR 7 135173301 135173301 single base substitution T G intron_variant SKCA-BR 7 135174139 135174140 deletion of <=200bp CT - intron_variant SKCA-BR 7 135179218 135179219 deletion of <=200bp CA - intron_variant SKCA-BR 7 135180252 135180253 deletion of <=200bp CA - intron_variant SKCA-BR 7 135180434 135180446 deletion of <=200bp AAAAAAAAGAAAG - intron_variant SKCA-BR 7 135180435 135180470 deletion of <=200bp AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG - intron_variant SKCA-BR 7 135182190 135182190 single base substitution T C intron_variant SKCA-BR 7 135189229 135189229 single base substitution T A intron_variant SKCA-BR 7 135189232 135189232 insertion of <=200bp - TTA intron_variant SKCA-BR 7 135190359 135190359 single base substitution A G intron_variant SKCA-BR 7 135194899 135194899 single base substitution A G upstream_gene_variant SKCA-BR 7 135195792 135195792 single base substitution C T upstream_gene_variant SKCA-BR 7 135197555 135197555 insertion of <=200bp - TCAAAA upstream_gene_variant SKCM-US 7 135047761 135047761 single base substitution G A exon_variant SKCM-US 7 135047761 135047761 single base substitution G A missense_variant P599L 1796C>T SKCM-US 7 135047761 135047761 single base substitution G A missense_variant P602L 1805C>T SKCM-US 7 135047761 135047761 single base substitution G A missense_variant P670L 2009C>T SKCM-US 7 135047761 135047761 single base substitution G A missense_variant P673L 2018C>T SKCM-US 7 135047787 135047787 single base substitution G A exon_variant SKCM-US 7 135047787 135047787 single base substitution G A synonymous_variant I590I 1770C>T SKCM-US 7 135047787 135047787 single base substitution G A synonymous_variant I593I 1779C>T SKCM-US 7 135047787 135047787 single base substitution G A synonymous_variant I661I 1983C>T SKCM-US 7 135047787 135047787 single base substitution G A synonymous_variant I664I 1992C>T SKCM-US 7 135047828 135047828 single base substitution G A exon_variant SKCM-US 7 135047828 135047828 single base substitution G A missense_variant P577S 1729C>T SKCM-US 7 135047828 135047828 single base substitution G A missense_variant P580S 1738C>T SKCM-US 7 135047828 135047828 single base substitution G A missense_variant P648S 1942C>T SKCM-US 7 135047828 135047828 single base substitution G A missense_variant P651S 1951C>T SKCM-US 7 135047860 135047860 single base substitution G A exon_variant SKCM-US 7 135047860 135047860 single base substitution G A missense_variant A566V 1697C>T SKCM-US 7 135047860 135047860 single base substitution G A missense_variant A569V 1706C>T SKCM-US 7 135047860 135047860 single base substitution G A missense_variant A637V 1910C>T SKCM-US 7 135047860 135047860 single base substitution G A missense_variant A640V 1919C>T SKCM-US 7 135047869 135047869 single base substitution G A exon_variant SKCM-US 7 135047869 135047869 single base substitution G A missense_variant S563F 1688C>T SKCM-US 7 135047869 135047869 single base substitution G A missense_variant S566F 1697C>T SKCM-US 7 135047869 135047869 single base substitution G A missense_variant S634F 1901C>T SKCM-US 7 135047869 135047869 single base substitution G A missense_variant S637F 1910C>T SKCM-US 7 135048708 135048708 single base substitution G T exon_variant SKCM-US 7 135048708 135048708 single base substitution G T intron_variant SKCM-US 7 135048708 135048708 single base substitution G T missense_variant P577T 1729C>A SKCM-US 7 135048708 135048708 single base substitution G T missense_variant P580T 1738C>A SKCM-US 7 135073606 135073606 single base substitution G A intron_variant SKCM-US 7 135073606 135073606 single base substitution G A synonymous_variant T553T 1659C>T SKCM-US 7 135073606 135073606 single base substitution G A synonymous_variant T556T 1668C>T SKCM-US 7 135073606 135073606 single base substitution G A upstream_gene_variant SKCM-US 7 135078869 135078869 single base substitution G A intron_variant SKCM-US 7 135078869 135078869 single base substitution G A synonymous_variant F473F 1419C>T SKCM-US 7 135078869 135078869 single base substitution G A synonymous_variant F476F 1428C>T SKCM-US 7 135079073 135079073 single base substitution G A synonymous_variant F405F 1215C>T SKCM-US 7 135079073 135079073 single base substitution G A synonymous_variant F408F 1224C>T SKCM-US 7 135080388 135080388 single base substitution G A missense_variant S373L 1118C>T SKCM-US 7 135080388 135080388 single base substitution G A missense_variant S376L 1127C>T SKCM-US 7 135080575 135080575 single base substitution G A missense_variant P311S 931C>T SKCM-US 7 135080575 135080575 single base substitution G A missense_variant P314S 940C>T SKCM-US 7 135098321 135098321 single base substitution C T synonymous_variant K201K 603G>A SKCM-US 7 135106988 135106988 single base substitution G A downstream_gene_variant SKCM-US 7 135106988 135106988 single base substitution G A exon_variant SKCM-US 7 135106988 135106988 single base substitution G A missense_variant R97C 289C>T STAD-US 7 135047689 135047689 single base substitution G T downstream_gene_variant STAD-US 7 135047689 135047689 single base substitution G T missense_variant P623H 1868C>A STAD-US 7 135047689 135047689 single base substitution G T missense_variant P626H 1877C>A STAD-US 7 135047689 135047689 single base substitution G T missense_variant P694H 2081C>A STAD-US 7 135047689 135047689 single base substitution G T missense_variant P697H 2090C>A STAD-US 7 135047807 135047807 single base substitution C T exon_variant STAD-US 7 135047807 135047807 single base substitution C T missense_variant A584T 1750G>A STAD-US 7 135047807 135047807 single base substitution C T missense_variant A587T 1759G>A STAD-US 7 135047807 135047807 single base substitution C T missense_variant A655T 1963G>A STAD-US 7 135047807 135047807 single base substitution C T missense_variant A658T 1972G>A STAD-US 7 135047842 135047842 single base substitution C A exon_variant STAD-US 7 135047842 135047842 single base substitution C A missense_variant G572V 1715G>T STAD-US 7 135047842 135047842 single base substitution C A missense_variant G575V 1724G>T STAD-US 7 135047842 135047842 single base substitution C A missense_variant G643V 1928G>T STAD-US 7 135047842 135047842 single base substitution C A missense_variant G646V 1937G>T STAD-US 7 135079001 135079001 single base substitution C T intron_variant STAD-US 7 135079001 135079001 single base substitution C T synonymous_variant S429S 1287G>A STAD-US 7 135079001 135079001 single base substitution C T synonymous_variant S432S 1296G>A STAD-US 7 135079025 135079025 single base substitution G A intron_variant STAD-US 7 135079025 135079025 single base substitution G A synonymous_variant S421S 1263C>T STAD-US 7 135079025 135079025 single base substitution G A synonymous_variant S424S 1272C>T STAD-US 7 135079154 135079154 single base substitution T C synonymous_variant V378V 1134A>G STAD-US 7 135079154 135079154 single base substitution T C synonymous_variant V381V 1143A>G STAD-US 7 135095396 135095396 single base substitution C A splice_region_variant STAD-US 7 135098336 135098336 single base substitution G A synonymous_variant C196C 588C>T STAD-US 7 135106951 135106951 deletion of <=200bp T - downstream_gene_variant STAD-US 7 135106951 135106951 deletion of <=200bp T - frameshift_variant N109 STAD-US 7 135122926 135122932 deletion of <=200bp GCCCATT - exon_variant STAD-US 7 135122926 135122932 deletion of <=200bp GCCCATT - frameshift_variant NGL50 THCA-SA 7 135099927 135099927 single base substitution G A stop_gained Q153* 457C>T UCEC-US 7 135048716 135048716 single base substitution G T exon_variant UCEC-US 7 135048716 135048716 single base substitution G T intron_variant UCEC-US 7 135048716 135048716 single base substitution G T missense_variant S574Y 1721C>A UCEC-US 7 135048716 135048716 single base substitution G T missense_variant S577Y 1730C>A UCEC-US 7 135078728 135078728 single base substitution G T intron_variant UCEC-US 7 135078728 135078728 single base substitution G T missense_variant F520L 1560C>A UCEC-US 7 135078728 135078728 single base substitution G T missense_variant F523L 1569C>A UCEC-US 7 135078791 135078791 single base substitution G T intron_variant UCEC-US 7 135078791 135078791 single base substitution G T synonymous_variant A499A 1497C>A UCEC-US 7 135078791 135078791 single base substitution G T synonymous_variant A502A 1506C>A UCEC-US 7 135078849 135078849 single base substitution C T intron_variant UCEC-US 7 135078849 135078849 single base substitution C T missense_variant R480Q 1439G>A UCEC-US 7 135078849 135078849 single base substitution C T missense_variant R483Q 1448G>A UCEC-US 7 135080546 135080546 single base substitution C A synonymous_variant R320R 960G>T UCEC-US 7 135080546 135080546 single base substitution C A synonymous_variant R323R 969G>T UCEC-US 7 135080559 135080559 single base substitution T G missense_variant N316T 947A>C UCEC-US 7 135080559 135080559 single base substitution T G missense_variant N319T 956A>C UCEC-US 7 135098328 135098328 single base substitution A G missense_variant F199S 596T>C UCEC-US 7 135106940 135106940 single base substitution C T downstream_gene_variant UCEC-US 7 135106940 135106940 single base substitution C T missense_variant V113I 337G>A UCEC-US 7 135122919 135122919 single base substitution G T exon_variant UCEC-US 7 135122919 135122919 single base substitution G T missense_variant P54H 161C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AZ-4315-01 COSM1448266 c.316G>A p.V106I Substitution - Missense 7:135422212-135422212 - TCGA-B5-A11E-01 COSM1085835 c.1439G>A p.R480Q Substitution - Missense 7:135394097-135394097 - B86 COSM1755104 c.1862G>C p.R621T Substitution - Missense 7:135362943-135362943 - YULOCUS COSM4461759 c.1219C>T p.P407S Substitution - Missense 7:135394326-135394326 - 2492729 COSM3878336 c.1134A>G p.V378V Substitution - coding silent 7:135394402-135394402 - Pat_11_A COSM5871893 c.1576C>T p.P526S Substitution - Missense 7:135393960-135393960 - 13T COSM3718919 c.86delT p.F29fs*50 Deletion - Frameshift 7:135438246-135438246 - T3080 COSM4673214 c.317T>C p.V106A Substitution - Missense 7:135422211-135422211 - PD24209a COSM5780971 c.364G>A p.D122N Substitution - Missense 7:135422164-135422164 - Gp2D COSM2859164 c.314T>C p.V105A Substitution - Missense 7:135422214-135422214 - TCGA-D3-A5GO-06 COSM3633629 c.1770C>T p.I590I Substitution - coding silent 7:135363035-135363035 - 587376 COSM1201616 c.659C>T p.A220V Substitution - Missense 7:135413516-135413516 - DLD1 COSM2859129 c.803C>A p.P268Q Substitution - Missense 7:135410533-135410533 - TCGA-EE-A29G-06 COSM3633638 c.1688C>T p.S563F Substitution - Missense 7:135363117-135363117 - HCT15 COSM2859128 c.803C>A p.P268Q Substitution - Missense 7:135410533-135410533 - TCGA-FW-A3R5-06 COSM3922763 c.1428C>T p.F476F Substitution - coding silent 7:135394117-135394117 - TCGA-D3-A5GO-06 COSM3633660 c.603G>A p.K201K Substitution - coding silent 7:135413572-135413572 - PD24209a COSM5780970 c.364G>A p.D122N Substitution - Missense 7:135422164-135422164 - TCGA-B5-A0JV-01 COSM1154757 c.969G>T p.R323R Substitution - coding silent 7:135395794-135395794 - HX36T COSM1622369 c.1674C>G p.S558S Substitution - coding silent 7:135388848-135388848 - CSCC-10-T COSM4462557 c.1251C>T p.D417D Substitution - coding silent 7:135394294-135394294 - 587336 COSM1201612 c.968G>A p.R323Q Substitution - Missense 7:135395795-135395795 - T3080 COSM4673215 c.317T>C p.V106A Substitution - Missense 7:135422211-135422211 - Gp5D COSM2859165 c.314T>C p.V105A Substitution - Missense 7:135422214-135422214 - Gp2D COSM2859165 c.314T>C p.V105A Substitution - Missense 7:135422214-135422214 - PT19_2 COSM5900090 c.1582C>T p.L528F Substitution - Missense 7:135393963-135393963 - ESCC_BICR_054T COSM5444381 c.1015_1018delGACA p.D339fs*76 Deletion - Frameshift 7:135395745-135395748 - TCGA-66-2765-01 COSM744422 c.561+2T>G p.? Unknown 7:135414329-135414329 - CSCC-49-T COSM4490628 c.366C>T p.D122D Substitution - coding silent 7:135422162-135422162 - TCGA-EE-A3JI-06 COSM3633644 c.1215C>T p.F405F Substitution - coding silent 7:135394321-135394321 - TCGA-18-3407-01 COSM744426 c.1345G>T p.G449* Substitution - Nonsense 7:135394191-135394191 - PCSI_0146_Pa_P_526 COSM4808988 c.995C>T p.S332L Substitution - Missense 7:135395759-135395759 - TCGA-AA-3715-01 COSM268915 c.432T>C p.N144N Substitution - coding silent 7:135415203-135415203 - TCGA-D3-A3C1-06 COSM3633650 c.1127C>T p.S376L Substitution - Missense 7:135395636-135395636 - TCGA-AK-3461-01 COSM3366792 c.771T>A p.G257G Substitution - coding silent 7:135410565-135410565 - S01728 COSM310182 c.75T>C p.D25D Substitution - coding silent 7:135438257-135438257 - TCGA-CG-5733-01 COSM3878324 c.1868C>A p.P623H Substitution - Missense 7:135362937-135362937 - sysucc-311T COSM5467030 c.580A>C p.K194Q Substitution - Missense 7:135413595-135413595 - TCGA-AP-A059-01 COSM1596743 c.161C>A p.P54H Substitution - Missense 7:135438171-135438171 - ESCC_BICR_054T COSM5444380 c.1006_1009delGACA p.D336fs*76 Deletion - Frameshift 7:135395745-135395748 - TCGA-A5-A0GP-01 COSM1596745 c.596T>C p.F199S Substitution - Missense 7:135413579-135413579 - 2557_CLM COSM5756980 c.136C>T p.R46C Substitution - Missense 7:135438196-135438196 - T1764 COSM4673205 c.1659A>G p.Q553Q Substitution - coding silent 7:135363146-135363146 - TCGA-AX-A05Z-01 COSM1085831 c.1560C>A p.F520L Substitution - Missense 7:135393976-135393976 - HCC118T COSM5813772 c.1776G>T p.L592L Substitution - coding silent 7:135363029-135363029 - PT41 COSM5924418 c.1220C>T p.P407L Substitution - Missense 7:135394325-135394325 - H322T COSM1194898 c.1746C>G p.H582Q Substitution - Missense 7:135363059-135363059 - TCGA-BC-A10R-01 COSM4935999 c.227A>G p.Q76R Substitution - Missense 7:135422301-135422301 - SNU-175 COSM2859075 c.1296G>A p.S432S Substitution - coding silent 7:135394249-135394249 - PCSI_0146_Pa_P_526 COSM4808989 c.1004C>T p.S335L Substitution - Missense 7:135395759-135395759 - TCGA-AX-A05Z-01 COSM1596753 c.1569C>A p.F523L Substitution - Missense 7:135393976-135393976 - TCGA-AZ-4315-01 COSM1201619 c.131G>A p.R44Q Substitution - Missense 7:135438201-135438201 - T3246 COSM4673211 c.1352C>G p.S451C Substitution - Missense 7:135394193-135394193 - PAPNNX COSM2859044 c.1514G>A p.R505H Substitution - Missense 7:135394031-135394031 - CSCC-27-T COSM4461758 c.1210C>T p.P404S Substitution - Missense 7:135394326-135394326 - HCC29 COSM1622369 c.1674C>G p.S558S Substitution - coding silent 7:135388848-135388848 - DF01 COSM5759470 c.858T>A p.D286E Substitution - Missense 7:135398181-135398181 - BN37 COSM1622372 c.564A>T p.A188A Substitution - coding silent 7:135413611-135413611 - TCGA-D8-A1J8-01 COSM3831954 c.856G>T p.G286W Substitution - Missense 7:135398192-135398192 - TCGA-CH-5754-01 COSM1131704 c.339T>G p.V113V Substitution - coding silent 7:135422189-135422189 - 2492708 COSM5717418 c.1624C>T p.P542S Substitution - Missense 7:135363181-135363181 - C086 COSM5528837 c.7C>T p.R3C Substitution - Missense 7:135438325-135438325 - Pat_11_A COSM5871894 c.1585C>T p.P529S Substitution - Missense 7:135393960-135393960 - TCGA-AP-A0LT-01 COSM1154759 c.337G>A p.V113I Substitution - Missense 7:135422191-135422191 - YULOCUS COSM4461758 c.1210C>T p.P404S Substitution - Missense 7:135394326-135394326 - TCGA-CG-5723-01 COSM3878326 c.1750G>A p.A584T Substitution - Missense 7:135363055-135363055 - 2557_PT COSM5756979 c.136C>T p.R46C Substitution - Missense 7:135438196-135438196 - HT115 COSM2859060 c.1451C>T p.A484V Substitution - Missense 7:135394094-135394094 - 587376 COSM1201615 c.659C>T p.A220V Substitution - Missense 7:135413516-135413516 - TCGA-06-0241 COSM2151141 c.1881delC p.T628fs*>12 Deletion - Frameshift 7:135362924-135362924 - 10P2 COSM3733512 c.810G>C p.Q270H Substitution - Missense 7:135410526-135410526 - TCGA-EB-A3XD-01 COSM3633632 c.1729C>T p.P577S Substitution - Missense 7:135363076-135363076 - HCC29T COSM1622369 c.1674C>G p.S558S Substitution - coding silent 7:135388848-135388848 - 2296_T COSM3949976 c.879+2T>A p.? Unknown 7:135398167-135398167 - ESCC_152 COSM5645519 c.1586C>T p.P529L Substitution - Missense 7:135393959-135393959 - TCGA-F5-6814-01 COSM3431265 c.8G>A p.R3H Substitution - Missense 7:135438324-135438324 - 40M COSM5584832 c.1054C>T p.P352S Substitution - Missense 7:135395700-135395700 - 107 COSM5014012 c.1713C>G p.D571E Substitution - Missense 7:135363092-135363092 - TCGA-BR-6452-01 COSM3878346 c.588C>T p.C196C Substitution - coding silent 7:135413587-135413587 - sysucc-311T COSM5467029 c.580A>C p.K194Q Substitution - Missense 7:135413595-135413595 - 9227_T COSM5042922 c.313G>A p.V105I Substitution - Missense 7:135422215-135422215 - C0052T COSM4155419 c.94A>T p.T32S Substitution - Missense 7:135438238-135438238 - TCGA-DK-A1AC-01 COSM1312702 c.46C>G p.L16V Substitution - Missense 7:135438286-135438286 - 2557_PT COSM5756980 c.136C>T p.R46C Substitution - Missense 7:135438196-135438196 - ICC001T COSM5807253 c.1423C>G p.Q475E Substitution - Missense 7:135394113-135394113 - 587376 COSM1201619 c.131G>A p.R44Q Substitution - Missense 7:135438201-135438201 - TCGA-D1-A167-01 COSM1085833 c.1497C>A p.A499A Substitution - coding silent 7:135394039-135394039 - Gp5D COSM2859164 c.314T>C p.V105A Substitution - Missense 7:135422214-135422214 - TCGA-EE-A20B-06 COSM3633654 c.931C>T p.P311S Substitution - Missense 7:135395823-135395823 - TCGA-D3-A3C1-06 COSM3633649 c.1118C>T p.S373L Substitution - Missense 7:135395636-135395636 - TCGA-EE-A29S-06 COSM3633626 c.1796C>T p.P599L Substitution - Missense 7:135363009-135363009 - HCT15 COSM2859129 c.803C>A p.P268Q Substitution - Missense 7:135410533-135410533 - ESCC_124 COSM5641034 c.1295C>G p.S432C Substitution - Missense 7:135394241-135394241 - PT35 COSM5912587 c.1496C>T p.P499L Substitution - Missense 7:135394049-135394049 - PT35 COSM5912586 c.1487C>T p.P496L Substitution - Missense 7:135394049-135394049 - ICC001T COSM5807254 c.1432C>G p.Q478E Substitution - Missense 7:135394113-135394113 - 49M COSM5590255 c.1028C>A p.P343H Substitution - Missense 7:135395726-135395726 - 587336 COSM1201611 c.959G>A p.R320Q Substitution - Missense 7:135395795-135395795 - TCGA-BR-6802-01 COSM2859075 c.1296G>A p.S432S Substitution - coding silent 7:135394249-135394249 - PT41 COSM5924417 c.1211C>T p.P404L Substitution - Missense 7:135394325-135394325 - TCGA-HU-A4G8-01 COSM3878332 c.1263C>T p.S421S Substitution - coding silent 7:135394273-135394273 - TCGA-DK-A1AC-01 COSM1312703 c.46C>G p.L16V Substitution - Missense 7:135438286-135438286 - ESCC_18 COSM5615787 c.3G>T p.M1I Substitution - Missense 7:135438329-135438329 - PT41 COSM4461758 c.1210C>T p.P404S Substitution - Missense 7:135394326-135394326 - 12820 COSM5615787 c.3G>T p.M1I Substitution - Missense 7:135438329-135438329 - C086 COSM5528838 c.7C>T p.R3C Substitution - Missense 7:135438325-135438325 - ESCC-185T COSM3942049 c.1439A>G p.Q480R Substitution - Missense 7:135394106-135394106 - AOCS-034-3-8 COSM4153862 c.875C>T p.S292F Substitution - Missense 7:135395879-135395879 - TCGA-FW-A3R5-06 COSM3922762 c.1419C>T p.F473F Substitution - coding silent 7:135394117-135394117 - 50 COSM5014738 c.1750G>T p.A584S Substitution - Missense 7:135363055-135363055 - 462 COSM4436912 c.479A>G p.Y160C Substitution - Missense 7:135414413-135414413 - 8068583 COSM4946521 c.907C>G p.P303A Substitution - Missense 7:135395856-135395856 - 1N48-VS-1T48 COSM4976379 c.1918T>A p.*640K Nonstop extension 7:135362887-135362887 - 2296_T COSM3949975 c.870+2T>A p.? Unknown 7:135398167-135398167 - Pat_41_B COSM5871891 c.1867C>T p.P623S Substitution - Missense 7:135362938-135362938 - DF01 COSM5759471 c.867T>A p.D289E Substitution - Missense 7:135398181-135398181 - LUAD-B01811 COSM334756 c.971A>C p.E324A Substitution - Missense 7:135395783-135395783 - 2492710 COSM5717418 c.1624C>T p.P542S Substitution - Missense 7:135363181-135363181 - 67 COSM5014744 c.686A>T p.Q229L Substitution - Missense 7:135413489-135413489 - N691T COSM236075 c.469G>T p.A157S Substitution - Missense 7:135414423-135414423 - BN37 COSM1622371 c.564A>T p.A188A Substitution - coding silent 7:135413611-135413611 - TCGA-AN-A0AK-01 COSM3831958 c.373-1G>T p.? Unknown 7:135415263-135415263 - TCGA-BR-6802-01 COSM204448 c.1287G>A p.S429S Substitution - coding silent 7:135394249-135394249 - RKO COSM2859103 c.952A>T p.S318C Substitution - Missense 7:135395802-135395802 - 2557_CLM COSM5756979 c.136C>T p.R46C Substitution - Missense 7:135438196-135438196 - TCGA-A5-A0GP-01 COSM1085841 c.596T>C p.F199S Substitution - Missense 7:135413579-135413579 - T2269 COSM3633645 c.1224C>T p.F408F Substitution - coding silent 7:135394321-135394321 - TCGA-GN-A269-01 COSM3633665 c.289C>T p.R97C Substitution - Missense 7:135422239-135422239 - CSCC-32-T COSM4476279 c.1833C>T p.S611S Substitution - coding silent 7:135362972-135362972 - TCGA-B5-A11E-01 COSM1596749 c.1448G>A p.R483Q Substitution - Missense 7:135394097-135394097 - TCGA-AP-A059-01 COSM1085845 c.161C>A p.P54H Substitution - Missense 7:135438171-135438171 - T1743 COSM4673202 c.1853C>T p.T618I Substitution - Missense 7:135362952-135362952 - CSCC-27-T COSM4461759 c.1219C>T p.P407S Substitution - Missense 7:135394326-135394326 - CSCC-10-T COSM4462556 c.1242C>T p.D414D Substitution - coding silent 7:135394294-135394294 - MO_1232 COSM5572198 c.1159T>G p.W387G Substitution - Missense 7:135394386-135394386 - TCGA-CM-6678-01 COSM1448259 c.1680G>A p.W560* Substitution - Nonsense 7:135363125-135363125 - TCGA-F5-6814-01 COSM3431266 c.8G>A p.R3H Substitution - Missense 7:135438324-135438324 - BD57T COSM5510260 c.1649C>T p.S550L Substitution - Missense 7:135388873-135388873 - 9227_T COSM5042923 c.313G>A p.V105I Substitution - Missense 7:135422215-135422215 - TCGA-AX-A05Z-01 COSM1596747 c.956A>C p.N319T Substitution - Missense 7:135395807-135395807 - TCGA-D1-A17M-01 COSM1085829 c.1629G>A p.A543A Substitution - coding silent 7:135363176-135363176 - TCGA-CD-A4MG-01 COSM3878329 c.1715G>T p.G572V Substitution - Missense 7:135363090-135363090 - TCGA-CD-8532-01 COSM3878336 c.1134A>G p.V378V Substitution - coding silent 7:135394402-135394402 - TCGA-HU-A4GF-01 COSM3878342 c.690G>T p.A230A Substitution - coding silent 7:135410646-135410646 - TARGET-30-PATINJ COSM1284185 c.1629G>C p.G543G Substitution - coding silent 7:135388893-135388893 - 145 COSM3735309 c.1298C>T p.P433L Substitution - Missense 7:135394247-135394247 - SNUH_G39_S1 COSM3685013 c.1882A>C p.T628P Substitution - Missense 7:135362923-135362923 - CSCC-49-T COSM3633655 c.940C>T p.P314S Substitution - Missense 7:135395823-135395823 - HT115 COSM2859059 c.1442C>T p.A481V Substitution - Missense 7:135394094-135394094 - TCGA-70-6722-01 COSM1150572 c.1626A>T p.A542A Substitution - coding silent 7:135393919-135393919 - TCGA-HU-A4G8-01 COSM3878333 c.1272C>T p.S424S Substitution - coding silent 7:135394273-135394273 - PT52 COSM5939664 c.1474C>T p.P492S Substitution - Missense 7:135394071-135394071 - ESCC_18 COSM5615786 c.3G>T p.M1I Substitution - Missense 7:135438329-135438329 - PTC_509 COSM5960448 c.457C>T p.Q153* Substitution - Nonsense 7:135415178-135415178 - STC232 COSM5062203 c.1225C>T p.R409* Substitution - Nonsense 7:135394311-135394311 - STC232 COSM5062204 c.1234C>T p.R412* Substitution - Nonsense 7:135394311-135394311 - SC_9099 COSM5569705 c.887C>T p.T296M Substitution - Missense 7:135395867-135395867 - ESCC_124 COSM5641035 c.1304C>G p.S435C Substitution - Missense 7:135394241-135394241 - TCGA-HU-A4GF-01 COSM3878341 c.690G>T p.A230A Substitution - coding silent 7:135410646-135410646 - ESCC-185T COSM3942048 c.1430A>G p.Q477R Substitution - Missense 7:135394106-135394106 - TCGA-BR-6452-01 COSM3878347 c.588C>T p.C196C Substitution - coding silent 7:135413587-135413587 - 49M COSM5590256 c.1037C>A p.P346H Substitution - Missense 7:135395726-135395726 - TCGA-AZ-4315-01 COSM1448267 c.316G>A p.V106I Substitution - Missense 7:135422212-135422212 - RKO COSM2859099 c.962G>T p.S321I Substitution - Missense 7:135395801-135395801 - LUAD-S01405 COSM399208 c.184G>C p.E62Q Substitution - Missense 7:135422344-135422344 - 12820 COSM5615786 c.3G>T p.M1I Substitution - Missense 7:135438329-135438329 - 2492709 COSM5717418 c.1624C>T p.P542S Substitution - Missense 7:135363181-135363181 - Pat_54_A COSM5871898 c.652delG p.D218fs*30 Deletion - Frameshift 7:135413523-135413523 - S01728 COSM310182 c.75T>C p.D25D Substitution - coding silent 7:135438257-135438257 - Z138 COSM1739349 c.277A>G p.I93V Substitution - Missense 7:135422251-135422251 - C0052T COSM4155418 c.94A>T p.T32S Substitution - Missense 7:135438238-135438238 - T3246 COSM4673210 c.1343C>G p.S448C Substitution - Missense 7:135394193-135394193 - ESCC_BICR_008T COSM5428963 c.1691T>C p.L564P Substitution - Missense 7:135363114-135363114 - LUAD-S01405 COSM399206 c.273G>C p.Q91H Substitution - Missense 7:135422255-135422255 - PT08_1 COSM5893218 c.1250A>T p.E417V Substitution - Missense 7:135394286-135394286 - TCGA-D8-A1J8-01 COSM3831953 c.847G>T p.G283W Substitution - Missense 7:135398192-135398192 - SC_9099 COSM5569706 c.896C>T p.T299M Substitution - Missense 7:135395867-135395867 - TCGA-66-2765-01 COSM1150578 c.561+2T>G p.? Unknown 7:135414329-135414329 - 145 COSM3735308 c.1289C>T p.P430L Substitution - Missense 7:135394247-135394247 - TCGA-CM-6171-01 COSM1448263 c.505G>A p.A169T Substitution - Missense 7:135414387-135414387 - TCGA-66-2794-01 COSM744424 c.1085C>T p.P362L Substitution - Missense 7:135395669-135395669 - B86-Tumor COSM1755104 c.1862G>C p.R621T Substitution - Missense 7:135362943-135362943 - SNUH_G45_S1 COSM4004304 c.1498T>G p.F500V Substitution - Missense 7:135394038-135394038 - PT19_2 COSM5900089 c.1573C>T p.L525F Substitution - Missense 7:135393963-135393963 - TCGA-18-3411-01 COSM744430 c.1664C>A p.S555* Substitution - Nonsense 7:135388858-135388858 - DLD1 COSM2859128 c.803C>A p.P268Q Substitution - Missense 7:135410533-135410533 - PT08_1 COSM5893219 c.1259A>T p.E420V Substitution - Missense 7:135394286-135394286 - 13T COSM3718918 c.86delT p.F29fs*50 Deletion - Frameshift 7:135438246-135438246 - TCGA-D3-A5GO-06 COSM3633659 c.603G>A p.K201K Substitution - coding silent 7:135413572-135413572 - TCGA-CG-5728-01 COSM2859075 c.1296G>A p.S432S Substitution - coding silent 7:135394249-135394249 - ESCC_118 COSM5640355 c.729A>G p.E243E Substitution - coding silent 7:135410607-135410607 - PD24186a COSM5800687 c.848G>C p.G283A Substitution - Missense 7:135398191-135398191 - TCGA-EE-A2MR-06 COSM3633642 c.1668C>T p.T556T Substitution - coding silent 7:135388854-135388854 - TCGA-70-6722-01 COSM744428 c.1617A>T p.A539A Substitution - coding silent 7:135393919-135393919 - TCGA-CM-6171-01 COSM1448262 c.505G>A p.A169T Substitution - Missense 7:135414387-135414387 - TCGA-B5-A0JV-01 COSM1085837 c.960G>T p.R320R Substitution - coding silent 7:135395794-135395794 - RMS112_ COSM4987625 c.1714G>A p.G572S Substitution - Missense 7:135363091-135363091 - 67 COSM5014745 c.686A>T p.Q229L Substitution - Missense 7:135413489-135413489 - TCGA-18-3407-01 COSM1150574 c.1354G>T p.G452* Substitution - Nonsense 7:135394191-135394191 - 40M COSM5584833 c.1063C>T p.P355S Substitution - Missense 7:135395700-135395700 - LC_C28 COSM1187444 c.1599C>A p.N533K Substitution - Missense 7:135393946-135393946 - BN37T COSM1622371 c.564A>T p.A188A Substitution - coding silent 7:135413611-135413611 - MOLT-4 COSM1201611 c.959G>A p.R320Q Substitution - Missense 7:135395795-135395795 - T2269 COSM4673220 c.273G>T p.Q91H Substitution - Missense 7:135422255-135422255 - AOCS-034-1-0 COSM4153862 c.875C>T p.S292F Substitution - Missense 7:135395879-135395879 - 50 COSM5014741 c.1749C>A p.S583R Substitution - Missense 7:135363056-135363056 - ESCC_118 COSM5640354 c.729A>G p.E243E Substitution - coding silent 7:135410607-135410607 - T2269 COSM4673219 c.273G>T p.Q91H Substitution - Missense 7:135422255-135422255 - YUGURT COSM5406567 c.1673C>T p.P558L Substitution - Missense 7:135363132-135363132 - PTC_509 COSM5960449 c.457C>T p.Q153* Substitution - Nonsense 7:135415178-135415178 - RKO COSM2859104 c.961A>T p.S321C Substitution - Missense 7:135395802-135395802 - TCGA-CH-5754-01 COSM4879194 c.339T>G p.V113V Substitution - coding silent 7:135422189-135422189 - TCGA-CJ-4907-01 COSM484877 c.1114A>G p.T372A Substitution - Missense 7:135395640-135395640 - TCGA-D1-A167-01 COSM1596751 c.1506C>A p.A502A Substitution - coding silent 7:135394039-135394039 - P144 COSM1737080 c.1700C>G p.P567R Substitution - Missense 7:135388822-135388822 - S01366 COSM5668320 c.821+2T>C p.? Unknown 7:135410513-135410513 - MOLT-4 COSM1201612 c.968G>A p.R323Q Substitution - Missense 7:135395795-135395795 - TCGA-AP-A0LT-01 COSM1085843 c.337G>A p.V113I Substitution - Missense 7:135422191-135422191 - PAPNNX COSM2859043 c.1505G>A p.R502H Substitution - Missense 7:135394031-135394031 - 391 COSM4427987 c.116G>A p.R39Q Substitution - Missense 7:135438216-135438216 - TCGA-AK-3461-01 COSM3366791 c.771T>A p.G257G Substitution - coding silent 7:135410565-135410565 - CSCC-49-T COSM3633654 c.931C>T p.P311S Substitution - Missense 7:135395823-135395823 - TCGA-AN-A0AK-01 COSM3831959 c.373-1G>T p.? Unknown 7:135415263-135415263 - SNU-175 COSM204448 c.1287G>A p.S429S Substitution - coding silent 7:135394249-135394249 - TCGA-66-2794-01 COSM1150576 c.1094C>T p.P365L Substitution - Missense 7:135395669-135395669 - HCC084T COSM5822294 c.1680G>T p.W560C Substitution - Missense 7:135363125-135363125 - TCGA-EE-A20B-06 COSM3633655 c.940C>T p.P314S Substitution - Missense 7:135395823-135395823 - 587376 COSM1201620 c.131G>A p.R44Q Substitution - Missense 7:135438201-135438201 - CSCC-49-T COSM4490629 c.366C>T p.D122D Substitution - coding silent 7:135422162-135422162 - TCGA-CG-5728-01 COSM204448 c.1287G>A p.S429S Substitution - coding silent 7:135394249-135394249 - TCGA-AX-A05Z-01 COSM1085839 c.947A>C p.N316T Substitution - Missense 7:135395807-135395807 - PD24186a COSM5800688 c.857G>C p.G286A Substitution - Missense 7:135398191-135398191 - 296_T COSM3949972 c.1758C>T p.F586F Substitution - coding silent 7:135363047-135363047 - RKO COSM2859098 c.953G>T p.S318I Substitution - Missense 7:135395801-135395801 - PDA_100 COSM5003459 c.241G>T p.E81* Substitution - Nonsense 7:135422287-135422287 - TCGA-GN-A269-01 COSM3633664 c.289C>T p.R97C Substitution - Missense 7:135422239-135422239 - Pat_54_A COSM5871897 c.652delG p.D218fs*30 Deletion - Frameshift 7:135413523-135413523 - MO_1232 COSM5572197 c.1150T>G p.W384G Substitution - Missense 7:135394386-135394386 - PDA_100 COSM5003458 c.241G>T p.E81* Substitution - Nonsense 7:135422287-135422287 - LC_C28 COSM1187443 c.1590C>A p.N530K Substitution - Missense 7:135393946-135393946 - TCGA-CD-8532-01 COSM3878337 c.1143A>G p.V381V Substitution - coding silent 7:135394402-135394402 - TCGA-AZ-4315-01 COSM1201620 c.131G>A p.R44Q Substitution - Missense 7:135438201-135438201 - TCGA-21-1076-01 COSM744431 c.1864C>T p.P622S Substitution - Missense 7:135362941-135362941 - AOCS-034-1-0 COSM4153863 c.884C>T p.S295F Substitution - Missense 7:135395879-135395879 - SNUH_G45_S1 COSM4004305 c.1507T>G p.F503V Substitution - Missense 7:135394038-135394038 - TCGA-CJ-4907-01 COSM1137642 c.1123A>G p.T375A Substitution - Missense 7:135395640-135395640 - HCC084T COSM5822256 c.1679G>C p.W560S Substitution - Missense 7:135363126-135363126 - 2492729 COSM3878337 c.1143A>G p.V381V Substitution - coding silent 7:135394402-135394402 - PCSI_0263_Pa_P_526 COSM4962423 c.1653T>G p.S551S Substitution - coding silent 7:135363152-135363152 - PT55 COSM5942111 c.59C>T p.P20L Substitution - Missense 7:135438273-135438273 - T2269 COSM3633644 c.1215C>T p.F405F Substitution - coding silent 7:135394321-135394321 - BN37T COSM1622372 c.564A>T p.A188A Substitution - coding silent 7:135413611-135413611 - PT52 COSM5939663 c.1465C>T p.P489S Substitution - Missense 7:135394071-135394071 - PT41 COSM4461759 c.1219C>T p.P407S Substitution - Missense 7:135394326-135394326 - 391 COSM4427986 c.116G>A p.R39Q Substitution - Missense 7:135438216-135438216 - cSCCP8 COSM140592 c.1675C>A p.H559N Substitution - Missense 7:135363130-135363130 - 462 COSM4436911 c.479A>G p.Y160C Substitution - Missense 7:135414413-135414413 - 8068583 COSM4946520 c.898C>G p.P300A Substitution - Missense 7:135395856-135395856 - SNUH_G39_S1 COSM3685016 c.1870A>C p.S624R Substitution - Missense 7:135362935-135362935 - TCGA-BC-A10R-01 COSM4935998 c.227A>G p.Q76R Substitution - Missense 7:135422301-135422301 - S01728 COSM5670864 c.75T>C p.D25D Substitution - coding silent 7:135438257-135438257 - TCGA-EE-A3JI-06 COSM3633645 c.1224C>T p.F408F Substitution - coding silent 7:135394321-135394321 - PT55 COSM5942112 c.59C>T p.P20L Substitution - Missense 7:135438273-135438273 - AOCS-034-3-8 COSM4153863 c.884C>T p.S295F Substitution - Missense 7:135395879-135395879 - ESCC_152 COSM5645518 c.1577C>T p.P526L Substitution - Missense 7:135393959-135393959 - TCGA-EE-A29B-06 COSM3633635 c.1697C>T p.A566V Substitution - Missense 7:135363108-135363108 - Z138 COSM1739350 c.277A>G p.I93V Substitution - Missense 7:135422251-135422251 - 10P2 COSM3733513 c.810G>C p.Q270H Substitution - Missense 7:135410526-135410526 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.490224 7q22-qter 604911 1515978|dbSNP|BC035590|A/C|non-coding||2037|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S546R c.1638T>G 7 135048808 LUAD A C SpliceDonorSNV . c.561+2T>G 7 135099078 LUSC A C Synonymous p.V113V c.339T>G 7 135106938 PRAD A G IntronicSNV . c.1-53459T>C 7 135176538 CLL A G Missense p.F199S c.596T>C 7 135098328 UCEC A G Synonymous p.D25D c.75T>C 7 135123005 SCLC A T IntronicSNV . c.1-15515T>A 7 135138594 CLL A T Synonymous p.G257G c.771T>A 7 135095315 RCCC C A IntronicSNV . c.1627+5252G>T 7 135073418 MM C A Missense p.G559V c.1676G>T 7 135048770 LUSC C A Missense p.G559W c.1675G>T 7 135048771 LUSC C A Missense p.M1I c.3G>T 7 135123077 NSCLC C A Nonsense p.G452* c.1354G>T 7 135078943 LUSC C A Synonymous p.R323R c.969G>T 7 135080546 UCEC CC TT Missense p.A495T c.1482_1483delinsAA 7 135078814 CM C G IntronicSNV . c.1627+5025G>C 7 135073645 NB C G Missense p.R165P c.494G>C 7 135099147 CM C T Missense p.V113I c.337G>A 7 135106940 UCEC C T Synonymous p.S432S c.1296G>A 7 135079001 STAD G A IntronicSNV . c.1627+9269C>T 7 135069401 CM G A IntronicSNV . c.1-6557C>T 7 135129636 CM G A Missense p.A640V c.1919C>T 7 135047860 CM G A Missense p.H214Y c.640C>T 7 135098284 HNSC G A Missense p.L213F c.637C>T 7 135098287 LUAD G A Missense p.P314S c.940C>T 7 135080575 CM G A Missense p.P365L c.1094C>T 7 135080421 LUSC G A Missense p.P673L c.2018C>T 7 135047761 CM G A Missense p.P696S c.2086C>T 7 135047693 LUSC G A Missense p.R165W c.493C>T 7 135099148 CM G A Missense p.R712C c.2134C>T 7 135047645 HNSC G A Missense p.R97C c.289C>T 7 135106988 CM G A Missense p.S376L c.1127C>T 7 135080388 CM G A Missense p.S637F c.1910C>T 7 135047869 CM G A Synonymous p.F408F c.1224C>T 7 135079073 CM G A Synonymous p.P659P c.1977C>T 7 135047802 CM G C 3-UTRSNV . c.2139+843C>G 7 135046797 MB G C Nonsense p.S338* c.1013C>G 7 135080502 LUAD G - Frameshift p.T702Qfs*26 c.2103delC 7 135047676 GBM G T IntronicSNV . c.1627+5060C>A 7 135073610 LUSC G T Missense p.P358Q c.1073C>A 7 135080442 LUAD G T Missense p.P697H c.2090C>A 7 135047689 STAD G T Missense p.P701T c.2101C>A 7 135047678 STAD G T Synonymous p.P565P c.1695C>A 7 135048751 STAD T A IntronicSNV . c.1-6183A>T 7 135129262 CLL T A Nonsense p.K98* c.292A>T 7 135106985 LUAD T A Synonymous p.A542A c.1626A>T 7 135078671 LUSC T C Missense p.T375A c.1123A>G 7 135080392 RCCC T - Frameshift p.T700Pfs*28 c.2098delA 7 135047681 GBM TGT - InFrameDeletion p.N591delN c.1772_1774delACA 7 135048672 LUSC - TT Frameshift p.N202Rfs*47 c.601_602dupAA 7 135098322 RCCC