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 2 9533755 9533755 + Missense_Mutation SNP C C T TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr2:9533755C>T c.2663C>T c.(2662-2664)cCg>cTg p.P888L BLCA 2 9419502 9419502 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr2:9419502C>G c.183C>G c.(181-183)atC>atG p.I61M BLCA 2 9474903 9474903 + Silent SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr2:9474903C>G c.723C>G c.(721-723)ctC>ctG p.L241L BLCA 2 9475228 9475228 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr2:9475228C>G c.769C>G c.(769-771)Cag>Gag p.Q257E BLCA 2 9484673 9484673 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:9484673C>T c.862C>T c.(862-864)Cgt>Tgt p.R288C BLCA 2 9484706 9484706 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr2:9484706C>A c.895C>A c.(895-897)Cag>Aag p.Q299K BLCA 2 9484712 9484712 + Missense_Mutation SNP A A T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr2:9484712A>T c.901A>T c.(901-903)Aac>Tac p.N301Y BLCA 2 9498900 9498900 + Missense_Mutation SNP C C A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 g.chr2:9498900C>A c.1343C>A c.(1342-1344)tCc>tAc p.S448Y BLCA 2 9514926 9514926 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr2:9514926G>C c.1599G>C c.(1597-1599)agG>agC p.R533S BLCA 2 9515008 9515008 + Nonsense_Mutation SNP G G T TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr2:9515008G>T c.1681G>T c.(1681-1683)Gga>Tga p.G561* BLCA 2 9519151 9519151 + Silent SNP C C G TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr2:9519151C>G c.1911C>G c.(1909-1911)ctC>ctG p.L637L BLCA 2 9528444 9528444 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr2:9528444G>A c.2152G>A c.(2152-2154)Gac>Aac p.D718N BLCA 2 9540151 9540151 + Splice_Site SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:9540151G>C c.e25-1 BLCA 2 9540173 9540173 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:9540173G>A c.2706G>A c.(2704-2706)ctG>ctA p.L902L BLCA 2 9540887 9540887 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr2:9540887G>A c.2751G>A c.(2749-2751)acG>acA p.T917T BLCA 2 9541463 9541463 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr2:9541463G>A c.2884G>A c.(2884-2886)Gag>Aag p.E962K BRCA 2 9467980 9467980 + Missense_Mutation SNP A A G TCGA-D8-A27W-01A-11D-A16D-09 TCGA-D8-A27W-10A-01D-A16D-09 g.chr2:9467980A>G c.626A>G c.(625-627)aAg>aGg p.K209R BRCA 2 9484865 9484865 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:9484865G>A c.959G>A c.(958-960)cGa>cAa p.R320Q BRCA 2 9496399 9496399 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:9496399G>T c.1252G>T c.(1252-1254)Gaa>Taa p.E418* BRCA 2 9517076 9517076 + Missense_Mutation SNP G G A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 g.chr2:9517076G>A c.1786G>A c.(1786-1788)Gtg>Atg p.V596M BRCA 2 9520932 9520932 + Missense_Mutation SNP G G A TCGA-OL-A5RW-01A-11D-A28B-09 TCGA-OL-A5RW-10A-01D-A28E-09 g.chr2:9520932G>A c.2011G>A c.(2011-2013)Gag>Aag p.E671K BRCA 2 9525431 9525431 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:9525431C>T c.2074C>T c.(2074-2076)Cga>Tga p.R692* BRCA 2 9531255 9531255 + Silent SNP C C T TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chr2:9531255C>T c.2448C>T c.(2446-2448)agC>agT p.S816S CESC 2 9528642 9528643 + Frame_Shift_Ins INS - - C TCGA-DR-A0ZL-01A-11D-A10S-08 TCGA-DR-A0ZL-10A-01D-A10S-08 g.chr2:9528642_9528643insC c.2350_2351insC c.(2350-2352)gccfs p.A784fs COAD 2 9437520 9437520 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:9437520G>A c.291G>A c.(289-291)gcG>gcA p.A97A COAD 2 9458704 9458704 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:9458704G>A c.397G>A c.(397-399)Ggg>Agg p.G133R COAD 2 9463281 9463281 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:9463281G>A c.502G>A c.(502-504)Gcc>Acc p.A168T COAD 2 9484733 9484733 + Missense_Mutation SNP C C T TCGA-AA-3941-01A-01W-0995-10 TCGA-AA-3941-10A-01W-0995-10 g.chr2:9484733C>T c.922C>T c.(922-924)Cgg>Tgg p.R308W COAD 2 9484763 9484763 + Splice_Site SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:9484763G>A c.952G>A c.(952-954)Ggg>Agg p.G318R COAD 2 9484865 9484865 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:9484865G>A c.959G>A c.(958-960)cGa>cAa p.R320Q COAD 2 9496317 9496317 + Silent SNP T T G TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr2:9496317T>G c.1170T>G c.(1168-1170)tcT>tcG p.S390S COAD 2 9496399 9496399 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:9496399G>T c.1252G>T c.(1252-1254)Gaa>Taa p.E418* COAD 2 9514892 9514892 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:9514892G>T c.1565G>T c.(1564-1566)aGa>aTa p.R522I COAD 2 9514980 9514980 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:9514980C>T c.1653C>T c.(1651-1653)tgC>tgT p.C551C COAD 2 9514980 9514980 + Silent SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr2:9514980C>T c.1653C>T c.(1651-1653)tgC>tgT p.C551C COAD 2 9514994 9514994 + Missense_Mutation SNP C C T TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr2:9514994C>T c.1667C>T c.(1666-1668)aCg>aTg p.T556M COAD 2 9520874 9520874 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:9520874C>T c.1953C>T c.(1951-1953)aaC>aaT p.N651N COAD 2 9528458 9528458 + Missense_Mutation SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:9528458C>A c.2166C>A c.(2164-2166)agC>agA p.S722R COAD 2 9528642 9528643 + Frame_Shift_Ins INS - - C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:9528642_9528643insC c.2350_2351insC c.(2350-2352)gccfs p.A784fs COAD 2 9528661 9528661 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:9528661G>A c.2369G>A c.(2368-2370)cGg>cAg p.R790Q COAD 2 9540956 9540956 + Silent SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr2:9540956G>A c.2820G>A c.(2818-2820)caG>caA p.Q940Q COAD 2 9543423 9543423 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:9543423delC c.2988delC c.(2986-2988)ttcfs p.F996fs COAD 2 9543423 9543423 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:9543423C>A c.2988C>A c.(2986-2988)ttC>ttA p.F996L COADREAD 2 9437520 9437520 + Silent SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:9437520G>A c.291G>A c.(289-291)gcG>gcA p.A97A COADREAD 2 9458704 9458704 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:9458704G>A c.397G>A c.(397-399)Ggg>Agg p.G133R COADREAD 2 9463281 9463281 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:9463281G>A c.502G>A c.(502-504)Gcc>Acc p.A168T COADREAD 2 9484733 9484733 + Missense_Mutation SNP C C T TCGA-AA-3941-01A-01W-0995-10 TCGA-AA-3941-10A-01W-0995-10 g.chr2:9484733C>T c.922C>T c.(922-924)Cgg>Tgg p.R308W COADREAD 2 9484763 9484763 + Splice_Site SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr2:9484763G>A c.952G>A c.(952-954)Ggg>Agg p.G318R COADREAD 2 9484865 9484865 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:9484865G>A c.959G>A c.(958-960)cGa>cAa p.R320Q COADREAD 2 9496317 9496317 + Silent SNP T T G TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr2:9496317T>G c.1170T>G c.(1168-1170)tcT>tcG p.S390S COADREAD 2 9496399 9496399 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:9496399G>T c.1252G>T c.(1252-1254)Gaa>Taa p.E418* COADREAD 2 9514892 9514892 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:9514892G>T c.1565G>T c.(1564-1566)aGa>aTa p.R522I COADREAD 2 9514980 9514980 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:9514980C>T c.1653C>T c.(1651-1653)tgC>tgT p.C551C COADREAD 2 9514980 9514980 + Silent SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr2:9514980C>T c.1653C>T c.(1651-1653)tgC>tgT p.C551C COADREAD 2 9514994 9514994 + Missense_Mutation SNP C C T TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr2:9514994C>T c.1667C>T c.(1666-1668)aCg>aTg p.T556M COADREAD 2 9520874 9520874 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:9520874C>T c.1953C>T c.(1951-1953)aaC>aaT p.N651N COADREAD 2 9528458 9528458 + Missense_Mutation SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:9528458C>A c.2166C>A c.(2164-2166)agC>agA p.S722R COADREAD 2 9528642 9528643 + Frame_Shift_Ins INS - - C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr2:9528642_9528643insC c.2350_2351insC c.(2350-2352)gccfs p.A784fs COADREAD 2 9528650 9528650 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:9528650G>A c.2358G>A c.(2356-2358)ccG>ccA p.P786P COADREAD 2 9528661 9528661 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:9528661G>A c.2369G>A c.(2368-2370)cGg>cAg p.R790Q COADREAD 2 9540956 9540956 + Silent SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr2:9540956G>A c.2820G>A c.(2818-2820)caG>caA p.Q940Q COADREAD 2 9543423 9543423 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:9543423delC c.2988delC c.(2986-2988)ttcfs p.F996fs COADREAD 2 9543423 9543423 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:9543423C>A c.2988C>A c.(2986-2988)ttC>ttA p.F996L ESCA 2 9437480 9437480 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr2:9437480G>T c.251G>T c.(250-252)gGc>gTc p.G84V ESCA 2 9437513 9437513 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 g.chr2:9437513G>T c.284G>T c.(283-285)gGa>gTa p.G95V ESCA 2 9474924 9474924 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr2:9474924G>A c.744G>A c.(742-744)ctG>ctA p.L248L ESCA 2 9491025 9491025 + Splice_Site SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:9491025G>A c.e12+1 ESCA 2 9515045 9515045 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr2:9515045C>T c.1718C>T c.(1717-1719)aCg>aTg p.T573M ESCA 2 9517087 9517087 + Silent SNP C C T TCGA-LN-A49X-01A-31D-A27G-09 TCGA-LN-A49X-10A-01D-A27G-09 g.chr2:9517087C>T c.1797C>T c.(1795-1797)acC>acT p.T599T ESCA 2 9528534 9528534 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr2:9528534G>T c.2242G>T c.(2242-2244)Gag>Tag p.E748* GBM 2 9347326 9347326 + Silent SNP G G A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chr2:9347326G>A c.93G>A c.(91-93)gcG>gcA p.A31A GBM 2 9517083 9517083 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr2:9517083G>A c.1793G>A c.(1792-1794)cGa>cAa p.R598Q GBMLGG 2 9347326 9347326 + Silent SNP G G A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chr2:9347326G>A c.93G>A c.(91-93)gcG>gcA p.A31A GBMLGG 2 9475264 9475264 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:9475264C>T c.805C>T c.(805-807)Ctt>Ttt p.L269F GBMLGG 2 9496443 9496443 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:9496443C>T c.1296C>T c.(1294-1296)ggC>ggT p.G432G GBMLGG 2 9517083 9517083 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr2:9517083G>A c.1793G>A c.(1792-1794)cGa>cAa p.R598Q HNSC 2 9347300 9347300 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:9347300G>A c.67G>A c.(67-69)Gcc>Acc p.A23T HNSC 2 9437559 9437559 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr2:9437559A>G c.330A>G c.(328-330)gcA>gcG p.A110A HNSC 2 9463337 9463337 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 g.chr2:9463337G>C c.558G>C c.(556-558)gaG>gaC p.E186D HNSC 2 9484911 9484911 + Silent SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr2:9484911G>C c.1005G>C c.(1003-1005)ctG>ctC p.L335L HNSC 2 9496196 9496196 + Missense_Mutation SNP C C G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr2:9496196C>G c.1132C>G c.(1132-1134)Caa>Gaa p.Q378E HNSC 2 9515038 9515038 + Missense_Mutation SNP G G A TCGA-CV-6433-01A-11D-1683-08 TCGA-CV-6433-11A-01D-1683-08 g.chr2:9515038G>A c.1711G>A c.(1711-1713)Gat>Aat p.D571N HNSC 2 9515039 9515039 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr2:9515039A>G c.1712A>G c.(1711-1713)gAt>gGt p.D571G HNSC 2 9519164 9519164 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 g.chr2:9519164C>T c.1924C>T c.(1924-1926)Cgg>Tgg p.R642W HNSC 2 9528450 9528450 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:9528450C>T c.2158C>T c.(2158-2160)Ccc>Tcc p.P720S HNSC 2 9528612 9528612 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr2:9528612G>C c.2320G>C c.(2320-2322)Gcc>Ccc p.A774P HNSC 2 9528643 9528643 + Frame_Shift_Del DEL C C - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:9528643delC c.2351delC c.(2350-2352)gccfs p.A784fs KIPAN 2 9347341 9347342 + Frame_Shift_Del DEL TG TG - TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr2:9347341_9347342delTG c.108_109delTG c.(106-111)actgtgfs p.V37fs KIPAN 2 9484692 9484692 + Missense_Mutation SNP G G A TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr2:9484692G>A c.881G>A c.(880-882)aGc>aAc p.S294N KIPAN 2 9496455 9496455 + Silent SNP C C T TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr2:9496455C>T c.1308C>T c.(1306-1308)tgC>tgT p.C436C KIPAN 2 9515054 9515054 + Missense_Mutation SNP T T C TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr2:9515054T>C c.1727T>C c.(1726-1728)aTc>aCc p.I576T KIPAN 2 9528579 9528579 + Missense_Mutation SNP T T C TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr2:9528579T>C c.2287T>C c.(2287-2289)Tac>Cac p.Y763H KIPAN 2 9528626 9528626 + Silent SNP C C T TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr2:9528626C>T c.2334C>T c.(2332-2334)gcC>gcT p.A778A KIPAN 2 9531296 9531296 + Missense_Mutation SNP C C T TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chr2:9531296C>T c.2489C>T c.(2488-2490)cCg>cTg p.P830L KIPAN 2 9533671 9533671 + Missense_Mutation SNP T T C TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr2:9533671T>C c.2579T>C c.(2578-2580)tTg>tCg p.L860S KIPAN 2 9543400 9543400 + Missense_Mutation SNP G G C TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr2:9543400G>C c.2965G>C c.(2965-2967)Gat>Cat p.D989H KIRC 2 9484692 9484692 + Missense_Mutation SNP G G A TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr2:9484692G>A c.881G>A c.(880-882)aGc>aAc p.S294N KIRC 2 9531296 9531296 + Missense_Mutation SNP C C T TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chr2:9531296C>T c.2489C>T c.(2488-2490)cCg>cTg p.P830L KIRC 2 9543400 9543400 + Missense_Mutation SNP G G C TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr2:9543400G>C c.2965G>C c.(2965-2967)Gat>Cat p.D989H KIRP 2 9347341 9347342 + Frame_Shift_Del DEL TG TG - TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr2:9347341_9347342delTG c.108_109delTG c.(106-111)actgtgfs p.V37fs KIRP 2 9496455 9496455 + Silent SNP C C T TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr2:9496455C>T c.1308C>T c.(1306-1308)tgC>tgT p.C436C KIRP 2 9515054 9515054 + Missense_Mutation SNP T T C TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr2:9515054T>C c.1727T>C c.(1726-1728)aTc>aCc p.I576T KIRP 2 9528579 9528579 + Missense_Mutation SNP T T C TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr2:9528579T>C c.2287T>C c.(2287-2289)Tac>Cac p.Y763H KIRP 2 9528626 9528626 + Silent SNP C C T TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr2:9528626C>T c.2334C>T c.(2332-2334)gcC>gcT p.A778A KIRP 2 9533671 9533671 + Missense_Mutation SNP T T C TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr2:9533671T>C c.2579T>C c.(2578-2580)tTg>tCg p.L860S LGG 2 9475264 9475264 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:9475264C>T c.805C>T c.(805-807)Ctt>Ttt p.L269F LGG 2 9496443 9496443 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:9496443C>T c.1296C>T c.(1294-1296)ggC>ggT p.G432G LIHC 2 9508603 9508603 + Missense_Mutation SNP G G A TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr2:9508603G>A c.1511G>A c.(1510-1512)tGc>tAc p.C504Y LIHC 2 9515031 9515031 + Silent SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr2:9515031T>C c.1704T>C c.(1702-1704)gaT>gaC p.D568D LIHC 2 9520899 9520899 + Missense_Mutation SNP A A T TCGA-DD-AACQ-01A-11D-A40R-10 TCGA-DD-AACQ-10A-01D-A40U-10 g.chr2:9520899A>T c.1978A>T c.(1978-1980)Att>Ttt p.I660F LIHC 2 9528600 9528601 + Frame_Shift_Ins INS - - G TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chr2:9528600_9528601insG c.2308_2309insG c.(2308-2310)agcfs p.S770fs LIHC 2 9528642 9528643 + Frame_Shift_Ins INS - - C TCGA-DD-A1EF-01A-11D-A12Z-10 TCGA-DD-A1EF-10A-01D-A12Z-10 g.chr2:9528642_9528643insC c.2350_2351insC c.(2350-2352)gccfs p.A784fs LIHC 2 9531316 9531316 + Missense_Mutation SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr2:9531316A>G c.2509A>G c.(2509-2511)Aca>Gca p.T837A LIHC 2 9533657 9533657 + Missense_Mutation SNP C C A TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr2:9533657C>A c.2565C>A c.(2563-2565)agC>agA p.S855R LIHC 2 9541497 9541497 + Missense_Mutation SNP T T C TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr2:9541497T>C c.2918T>C c.(2917-2919)gTg>gCg p.V973A LUAD 2 9437490 9437490 + Silent SNP A A G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:9437490A>G c.261A>G c.(259-261)gtA>gtG p.V87V LUAD 2 9463311 9463311 + Missense_Mutation SNP A A G TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr2:9463311A>G c.532A>G c.(532-534)Ata>Gta p.I178V LUAD 2 9463317 9463317 + Nonsense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr2:9463317G>T c.538G>T c.(538-540)Gga>Tga p.G180* LUAD 2 9468002 9468002 + Silent SNP A A G TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr2:9468002A>G c.648A>G c.(646-648)ttA>ttG p.L216L LUAD 2 9475237 9475237 + Missense_Mutation SNP G G C TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr2:9475237G>C c.778G>C c.(778-780)Gat>Cat p.D260H LUAD 2 9484734 9484734 + Frame_Shift_Del DEL G G - TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr2:9484734delG c.923delG c.(922-924)cggfs p.R308fs LUAD 2 9525441 9525441 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr2:9525441A>T c.2084A>T c.(2083-2085)cAc>cTc p.H695L LUAD 2 9528612 9528612 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:9528612G>T c.2320G>T c.(2320-2322)Gcc>Tcc p.A774S LUAD 2 9531320 9531320 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:9531320C>A c.2513C>A c.(2512-2514)tCt>tAt p.S838Y LUAD 2 9540191 9540191 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr2:9540191G>T c.2724G>T c.(2722-2724)ccG>ccT p.P908P LUAD 2 9541496 9541496 + Missense_Mutation SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr2:9541496G>A c.2917G>A c.(2917-2919)Gtg>Atg p.V973M LUSC 2 9474892 9474892 + Missense_Mutation SNP G G T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr2:9474892G>T c.712G>T c.(712-714)Gtg>Ttg p.V238L LUSC 2 9475236 9475236 + Missense_Mutation SNP G G T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr2:9475236G>T c.777G>T c.(775-777)caG>caT p.Q259H LUSC 2 9490936 9490936 + Splice_Site SNP G G A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr2:9490936G>A c.e12-1 LUSC 2 9508556 9508556 + Silent SNP C C A TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr2:9508556C>A c.1464C>A c.(1462-1464)ctC>ctA p.L488L LUSC 2 9514948 9514948 + Missense_Mutation SNP G G C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr2:9514948G>C c.1621G>C c.(1621-1623)Gcg>Ccg p.A541P LUSC 2 9528581 9528581 + Silent SNP C C T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr2:9528581C>T c.2289C>T c.(2287-2289)taC>taT p.Y763Y LUSC 2 9531254 9531254 + Missense_Mutation SNP G G C TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr2:9531254G>C c.2447G>C c.(2446-2448)aGc>aCc p.S816T PAAD 2 9463281 9463281 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:9463281G>A c.502G>A c.(502-504)Gcc>Acc p.A168T PAAD 2 9541430 9541430 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:9541430G>A c.2851G>A c.(2851-2853)Gcg>Acg p.A951T PCPG 2 9540191 9540191 + Silent SNP G G T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 g.chr2:9540191G>T c.2724G>T c.(2722-2724)ccG>ccT p.P908P PRAD 2 9475308 9475308 + Splice_Site SNP G G C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 g.chr2:9475308G>C c.849G>C c.(847-849)gaG>gaC p.E283D PRAD 2 9484733 9484733 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 g.chr2:9484733C>T c.922C>T c.(922-924)Cgg>Tgg p.R308W PRAD 2 9484930 9484930 + Splice_Site SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 g.chr2:9484930G>A c.e11+1 PRAD 2 9528611 9528611 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr2:9528611C>T c.2319C>T c.(2317-2319)ccC>ccT p.P773P READ 2 9528650 9528650 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:9528650G>A c.2358G>A c.(2356-2358)ccG>ccA p.P786P SARC 2 9496213 9496213 + Silent SNP G G A TCGA-DX-A3LY-01B-11D-A27P-09 TCGA-DX-A3LY-10B-01D-A27P-09 g.chr2:9496213G>A c.1149G>A c.(1147-1149)caG>caA p.Q383Q SKCM 2 9463340 9463340 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:9463340G>T c.561G>T c.(559-561)atG>atT p.M187I SKCM 2 9474912 9474912 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr2:9474912C>T c.732C>T c.(730-732)tcC>tcT p.S244S SKCM 2 9484673 9484673 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:9484673C>T c.862C>T c.(862-864)Cgt>Tgt p.R288C SKCM 2 9490987 9490987 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr2:9490987C>T c.1074C>T c.(1072-1074)acC>acT p.T358T SKCM 2 9515056 9515056 + Missense_Mutation SNP C C T TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr2:9515056C>T c.1729C>T c.(1729-1731)Cca>Tca p.P577S SKCM 2 9517083 9517083 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:9517083G>T c.1793G>T c.(1792-1794)cGa>cTa p.R598L SKCM 2 9520890 9520890 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr2:9520890C>T c.1969C>T c.(1969-1971)Ccg>Tcg p.P657S SKCM 2 9520891 9520891 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr2:9520891C>T c.1970C>T c.(1969-1971)cCg>cTg p.P657L SKCM 2 9528533 9528533 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr2:9528533G>A c.2241G>A c.(2239-2241)aaG>aaA p.K747K SKCM 2 9528615 9528615 + Nonsense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr2:9528615C>T c.2323C>T c.(2323-2325)Cag>Tag p.Q775* SKCM 2 9528618 9528618 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr2:9528618C>T c.2326C>T c.(2326-2328)Cct>Tct p.P776S SKCM 2 9528648 9528648 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:9528648C>T c.2356C>T c.(2356-2358)Ccg>Tcg p.P786S SKCM 2 9541476 9541476 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:9541476C>T c.2897C>T c.(2896-2898)tCc>tTc p.S966F SKCM 2 9541480 9541480 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr2:9541480G>A c.2901G>A c.(2899-2901)gaG>gaA p.E967E SKCM 2 9541481 9541481 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr2:9541481G>A c.2902G>A c.(2902-2904)Ggg>Agg p.G968R SKCM 2 9543450 9543450 + Silent SNP T T C TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr2:9543450T>C c.3015T>C c.(3013-3015)gcT>gcC p.A1005A

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 2 9437535 9437535 single base substitution A C synonymous_variant S102S 306A>C BLCA-CN 2 9528605 9528605 single base substitution A C exon_variant BLCA-CN 2 9528605 9528605 single base substitution A C synonymous_variant P771P 2313A>C BLCA-CN 2 9528608 9528608 single base substitution T C exon_variant BLCA-CN 2 9528608 9528608 single base substitution T C synonymous_variant P772P 2316T>C BLCA-US 2 9419502 9419502 single base substitution C G missense_variant I61M 183C>G BLCA-US 2 9475228 9475228 single base substitution C G missense_variant Q257E 769C>G BLCA-US 2 9484706 9484706 single base substitution C A missense_variant Q299K 895C>A BLCA-US 2 9498900 9498900 single base substitution C A downstream_gene_variant BLCA-US 2 9498900 9498900 single base substitution C A missense_variant S448Y 1343C>A BLCA-US 2 9540887 9540887 single base substitution G A exon_variant BLCA-US 2 9540887 9540887 single base substitution G A synonymous_variant T872T 2616G>A BLCA-US 2 9540887 9540887 single base substitution G A synonymous_variant T917T 2751G>A BLCA-US 2 9546976 9546976 single base substitution G T downstream_gene_variant BRCA-EU 2 9342462 9342462 single base substitution C T upstream_gene_variant BRCA-EU 2 9342897 9342897 single base substitution C A upstream_gene_variant BRCA-EU 2 9342914 9342914 single base substitution A G upstream_gene_variant BRCA-EU 2 9342934 9342934 single base substitution C T upstream_gene_variant BRCA-EU 2 9342963 9342963 single base substitution C G upstream_gene_variant BRCA-EU 2 9343006 9343006 single base substitution G C upstream_gene_variant BRCA-EU 2 9343670 9343670 single base substitution C G upstream_gene_variant BRCA-EU 2 9344357 9344357 single base substitution G C upstream_gene_variant BRCA-EU 2 9344406 9344406 single base substitution C T upstream_gene_variant BRCA-EU 2 9344433 9344433 single base substitution C G upstream_gene_variant BRCA-EU 2 9345505 9345505 single base substitution G C upstream_gene_variant BRCA-EU 2 9345617 9345617 single base substitution G A upstream_gene_variant BRCA-EU 2 9345886 9345886 single base substitution T C upstream_gene_variant BRCA-EU 2 9346021 9346021 single base substitution C T upstream_gene_variant BRCA-EU 2 9347078 9347078 single base substitution C G 5_prime_UTR_variant BRCA-EU 2 9347821 9347821 single base substitution G T intron_variant BRCA-EU 2 9348009 9348009 single base substitution C G intron_variant BRCA-EU 2 9348288 9348288 single base substitution C G intron_variant BRCA-EU 2 9348779 9348779 single base substitution G C intron_variant BRCA-EU 2 9350143 9350143 single base substitution C T intron_variant BRCA-EU 2 9351367 9351367 single base substitution C G intron_variant BRCA-EU 2 9352047 9352047 single base substitution A G intron_variant BRCA-EU 2 9353047 9353047 single base substitution A G intron_variant BRCA-EU 2 9353202 9353202 single base substitution G A intron_variant BRCA-EU 2 9355069 9355069 single base substitution G C intron_variant BRCA-EU 2 9355283 9355283 single base substitution C T intron_variant BRCA-EU 2 9355478 9355478 single base substitution T C intron_variant BRCA-EU 2 9356008 9356008 single base substitution C G intron_variant BRCA-EU 2 9359760 9359760 single base substitution C A intron_variant BRCA-EU 2 9359809 9359809 insertion of <=200bp - A intron_variant BRCA-EU 2 9359809 9359809 single base substitution A T intron_variant BRCA-EU 2 9360515 9360515 single base substitution T A intron_variant BRCA-EU 2 9361118 9361118 single base substitution C G intron_variant BRCA-EU 2 9361234 9361234 deletion of <=200bp T - intron_variant BRCA-EU 2 9362047 9362047 single base substitution C G intron_variant BRCA-EU 2 9363558 9363558 single base substitution T C intron_variant BRCA-EU 2 9363681 9363681 insertion of <=200bp - T intron_variant BRCA-EU 2 9364725 9364725 single base substitution C A intron_variant BRCA-EU 2 9365786 9365786 single base substitution A C intron_variant BRCA-EU 2 9366944 9366944 single base substitution G A intron_variant BRCA-EU 2 9367106 9367106 single base substitution G A intron_variant BRCA-EU 2 9368677 9368677 single base substitution G T intron_variant BRCA-EU 2 9370544 9370544 single base substitution C G intron_variant BRCA-EU 2 9371294 9371294 single base substitution G T intron_variant BRCA-EU 2 9373022 9373022 single base substitution A G intron_variant BRCA-EU 2 9374897 9374897 single base substitution G T intron_variant BRCA-EU 2 9375294 9375294 single base substitution G C intron_variant BRCA-EU 2 9375427 9375427 single base substitution C A intron_variant BRCA-EU 2 9377402 9377402 single base substitution C G intron_variant BRCA-EU 2 9378599 9378599 single base substitution G C intron_variant BRCA-EU 2 9378815 9378815 deletion of <=200bp T - intron_variant BRCA-EU 2 9378956 9378956 single base substitution G C intron_variant BRCA-EU 2 9379470 9379470 single base substitution A G intron_variant BRCA-EU 2 9380594 9380594 single base substitution C G intron_variant BRCA-EU 2 9381759 9381759 single base substitution C G intron_variant BRCA-EU 2 9384267 9384267 insertion of <=200bp - A intron_variant BRCA-EU 2 9384391 9384391 single base substitution C G intron_variant BRCA-EU 2 9384721 9384721 single base substitution C T intron_variant BRCA-EU 2 9385249 9385249 single base substitution G A intron_variant BRCA-EU 2 9385342 9385342 single base substitution C T intron_variant BRCA-EU 2 9385449 9385449 single base substitution G C intron_variant BRCA-EU 2 9387068 9387068 single base substitution C G intron_variant BRCA-EU 2 9388071 9388071 single base substitution C T intron_variant BRCA-EU 2 9388841 9388841 single base substitution C G intron_variant BRCA-EU 2 9389599 9389599 single base substitution T G intron_variant BRCA-EU 2 9391437 9391437 single base substitution C T intron_variant BRCA-EU 2 9391630 9391630 single base substitution C T intron_variant BRCA-EU 2 9392134 9392134 single base substitution G C intron_variant BRCA-EU 2 9392399 9392399 single base substitution G A intron_variant BRCA-EU 2 9394822 9394822 single base substitution G A intron_variant BRCA-EU 2 9394890 9394890 single base substitution C A intron_variant BRCA-EU 2 9395185 9395185 single base substitution A T intron_variant BRCA-EU 2 9398400 9398400 single base substitution A G intron_variant BRCA-EU 2 9400049 9400049 single base substitution A T intron_variant BRCA-EU 2 9400622 9400622 single base substitution C T intron_variant BRCA-EU 2 9402701 9402701 single base substitution T C intron_variant BRCA-EU 2 9404471 9404471 insertion of <=200bp - G intron_variant BRCA-EU 2 9405394 9405394 single base substitution T C intron_variant BRCA-EU 2 9405430 9405430 single base substitution G A intron_variant BRCA-EU 2 9406048 9406048 single base substitution C G intron_variant BRCA-EU 2 9408779 9408779 single base substitution C G intron_variant BRCA-EU 2 9409519 9409519 single base substitution G A intron_variant BRCA-EU 2 9409756 9409756 single base substitution C G intron_variant BRCA-EU 2 9411802 9411802 single base substitution G A intron_variant BRCA-EU 2 9413238 9413238 insertion of <=200bp - T intron_variant BRCA-EU 2 9413360 9413360 single base substitution G A intron_variant BRCA-EU 2 9414047 9414047 single base substitution G A intron_variant BRCA-EU 2 9414822 9414822 single base substitution A T intron_variant BRCA-EU 2 9417130 9417130 single base substitution C G intron_variant BRCA-EU 2 9417354 9417354 single base substitution C T intron_variant BRCA-EU 2 9418289 9418289 single base substitution G A intron_variant BRCA-EU 2 9418899 9418899 single base substitution G A intron_variant BRCA-EU 2 9419739 9419739 single base substitution T C intron_variant BRCA-EU 2 9423287 9423287 single base substitution G T intron_variant BRCA-EU 2 9423673 9423673 single base substitution G A intron_variant BRCA-EU 2 9423990 9423990 single base substitution C T intron_variant BRCA-EU 2 9426263 9426263 single base substitution C T intron_variant BRCA-EU 2 9426636 9426636 single base substitution G C intron_variant BRCA-EU 2 9427376 9427376 single base substitution C G intron_variant BRCA-EU 2 9428614 9428614 single base substitution C T intron_variant BRCA-EU 2 9429464 9429464 single base substitution G T intron_variant BRCA-EU 2 9430283 9430283 single base substitution G A intron_variant BRCA-EU 2 9430291 9430291 single base substitution A G intron_variant BRCA-EU 2 9431613 9431613 single base substitution G A intron_variant BRCA-EU 2 9432051 9432051 single base substitution C G intron_variant BRCA-EU 2 9433033 9433033 single base substitution C T intron_variant BRCA-EU 2 9435207 9435207 single base substitution C G intron_variant BRCA-EU 2 9435781 9435781 insertion of <=200bp - GT intron_variant BRCA-EU 2 9436772 9436772 single base substitution G A intron_variant BRCA-EU 2 9437911 9437911 single base substitution G C intron_variant BRCA-EU 2 9437912 9437912 single base substitution C T intron_variant BRCA-EU 2 9438083 9438083 single base substitution G T intron_variant BRCA-EU 2 9439171 9439171 single base substitution G A intron_variant BRCA-EU 2 9439592 9439592 single base substitution C G intron_variant BRCA-EU 2 9441097 9441099 deletion of <=200bp CGC - intron_variant BRCA-EU 2 9442806 9442806 single base substitution G C intron_variant BRCA-EU 2 9443756 9443756 single base substitution C A intron_variant BRCA-EU 2 9444913 9444913 single base substitution G C intron_variant BRCA-EU 2 9448150 9448150 single base substitution G A intron_variant BRCA-EU 2 9451805 9451805 single base substitution C G intron_variant BRCA-EU 2 9453001 9453001 single base substitution G T intron_variant BRCA-EU 2 9453386 9453386 single base substitution C T intron_variant BRCA-EU 2 9454224 9454224 single base substitution T C intron_variant BRCA-EU 2 9454262 9454262 single base substitution G A intron_variant BRCA-EU 2 9454327 9454327 single base substitution G A intron_variant BRCA-EU 2 9455014 9455014 single base substitution C T intron_variant BRCA-EU 2 9456507 9456507 single base substitution C G intron_variant BRCA-EU 2 9459133 9459133 single base substitution G C intron_variant BRCA-EU 2 9460445 9460445 single base substitution G A stop_gained W150* 449G>A BRCA-EU 2 9461582 9461582 single base substitution A C intron_variant BRCA-EU 2 9461849 9461849 single base substitution G A intron_variant BRCA-EU 2 9462404 9462404 single base substitution C T intron_variant BRCA-EU 2 9462983 9462983 single base substitution A C intron_variant BRCA-EU 2 9468395 9468395 insertion of <=200bp - T intron_variant BRCA-EU 2 9468591 9468591 single base substitution C G intron_variant BRCA-EU 2 9468594 9468594 single base substitution C T intron_variant BRCA-EU 2 9470743 9470743 single base substitution G A intron_variant BRCA-EU 2 9472298 9472298 single base substitution G C intron_variant BRCA-EU 2 9473101 9473101 single base substitution A G intron_variant BRCA-EU 2 9473495 9473495 single base substitution A G intron_variant BRCA-EU 2 9477970 9477970 single base substitution C G intron_variant BRCA-EU 2 9478420 9478421 deletion of <=200bp CT - intron_variant BRCA-EU 2 9480189 9480303 multiple base substitution (>=2bp and <=200bp) TCGTCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTTCTGTCTCAGCCTCCCAATTAGCTGGGATTACAGGTACGCGCC TTTTA intron_variant BRCA-EU 2 9480701 9480701 single base substitution C T intron_variant BRCA-EU 2 9481756 9481756 single base substitution G T intron_variant BRCA-EU 2 9481922 9481922 single base substitution C T intron_variant BRCA-EU 2 9485223 9485223 single base substitution A G intron_variant BRCA-EU 2 9486490 9486490 single base substitution A C intron_variant BRCA-EU 2 9486490 9486490 single base substitution A C upstream_gene_variant BRCA-EU 2 9486737 9486737 single base substitution G A intron_variant BRCA-EU 2 9486737 9486737 single base substitution G A upstream_gene_variant BRCA-EU 2 9487397 9487397 single base substitution C A intron_variant BRCA-EU 2 9487397 9487397 single base substitution C A upstream_gene_variant BRCA-EU 2 9487661 9487661 single base substitution C T intron_variant BRCA-EU 2 9487661 9487661 single base substitution C T upstream_gene_variant BRCA-EU 2 9489082 9489082 single base substitution C G intron_variant BRCA-EU 2 9489082 9489082 single base substitution C G upstream_gene_variant BRCA-EU 2 9489187 9489187 single base substitution T C intron_variant BRCA-EU 2 9489187 9489187 single base substitution T C upstream_gene_variant BRCA-EU 2 9489563 9489563 single base substitution C T intron_variant BRCA-EU 2 9489563 9489563 single base substitution C T upstream_gene_variant BRCA-EU 2 9489779 9489779 single base substitution G A intron_variant BRCA-EU 2 9489779 9489779 single base substitution G A upstream_gene_variant BRCA-EU 2 9493483 9493483 single base substitution C G intron_variant BRCA-EU 2 9494003 9494003 single base substitution C T intron_variant BRCA-EU 2 9495597 9495598 deletion of <=200bp CA - intron_variant BRCA-EU 2 9496067 9496067 single base substitution G A intron_variant BRCA-EU 2 9498772 9498772 single base substitution C T downstream_gene_variant BRCA-EU 2 9498772 9498772 single base substitution C T intron_variant BRCA-EU 2 9499272 9499272 single base substitution G A downstream_gene_variant BRCA-EU 2 9499272 9499272 single base substitution G A intron_variant BRCA-EU 2 9499338 9499338 single base substitution A G downstream_gene_variant BRCA-EU 2 9499338 9499338 single base substitution A G intron_variant BRCA-EU 2 9499702 9499702 single base substitution T C downstream_gene_variant BRCA-EU 2 9499702 9499702 single base substitution T C intron_variant BRCA-EU 2 9501320 9501320 single base substitution C G downstream_gene_variant BRCA-EU 2 9501320 9501320 single base substitution C G intron_variant BRCA-EU 2 9501512 9501512 deletion of <=200bp T - intron_variant BRCA-EU 2 9502377 9502377 single base substitution G A intron_variant BRCA-EU 2 9503725 9503725 deletion of <=200bp T - intron_variant BRCA-EU 2 9504712 9504712 single base substitution G C intron_variant BRCA-EU 2 9504944 9504944 single base substitution C T intron_variant BRCA-EU 2 9505910 9505910 single base substitution G A intron_variant BRCA-EU 2 9507816 9507816 single base substitution G C intron_variant BRCA-EU 2 9507860 9507860 single base substitution C T intron_variant BRCA-EU 2 9508680 9508680 single base substitution G C intron_variant BRCA-EU 2 9509264 9509264 single base substitution C T intron_variant BRCA-EU 2 9509381 9509381 single base substitution C T intron_variant BRCA-EU 2 9509676 9509676 single base substitution G A intron_variant BRCA-EU 2 9510010 9510010 single base substitution G A intron_variant BRCA-EU 2 9511344 9511344 single base substitution G A intron_variant BRCA-EU 2 9511998 9511998 single base substitution C T intron_variant BRCA-EU 2 9512011 9512011 single base substitution C T intron_variant BRCA-EU 2 9512061 9512061 single base substitution C T intron_variant BRCA-EU 2 9512895 9512895 single base substitution C G intron_variant BRCA-EU 2 9513452 9513452 single base substitution C G intron_variant BRCA-EU 2 9513495 9513495 single base substitution G A intron_variant BRCA-EU 2 9513845 9513845 single base substitution C T intron_variant BRCA-EU 2 9514726 9514726 single base substitution T C intron_variant BRCA-EU 2 9516616 9516616 single base substitution C G intron_variant BRCA-EU 2 9516626 9516626 single base substitution G A intron_variant BRCA-EU 2 9517251 9517251 single base substitution G C intron_variant BRCA-EU 2 9518049 9518049 single base substitution G A intron_variant BRCA-EU 2 9518358 9518358 single base substitution A G intron_variant BRCA-EU 2 9518546 9518546 single base substitution G A intron_variant BRCA-EU 2 9520278 9520278 single base substitution G C intron_variant BRCA-EU 2 9520299 9520299 single base substitution G T intron_variant BRCA-EU 2 9526186 9526186 single base substitution C T intron_variant BRCA-EU 2 9526186 9526186 single base substitution C T upstream_gene_variant BRCA-EU 2 9526842 9526842 single base substitution C T intron_variant BRCA-EU 2 9526842 9526842 single base substitution C T upstream_gene_variant BRCA-EU 2 9529544 9529544 single base substitution G A intron_variant BRCA-EU 2 9529834 9529834 single base substitution G A intron_variant BRCA-EU 2 9530266 9530266 single base substitution G A intron_variant BRCA-EU 2 9530958 9530958 single base substitution G C intron_variant BRCA-EU 2 9531381 9531381 single base substitution G A intron_variant BRCA-EU 2 9532700 9532700 single base substitution C T intron_variant BRCA-EU 2 9534479 9534479 single base substitution G C intron_variant BRCA-EU 2 9534479 9534479 single base substitution G C upstream_gene_variant BRCA-EU 2 9535448 9535448 deletion of <=200bp A - intron_variant BRCA-EU 2 9535448 9535448 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 9536001 9536001 single base substitution G A intron_variant BRCA-EU 2 9536001 9536001 single base substitution G A upstream_gene_variant BRCA-EU 2 9536752 9536752 single base substitution G A intron_variant BRCA-EU 2 9536752 9536752 single base substitution G A upstream_gene_variant BRCA-EU 2 9537121 9537121 single base substitution A G intron_variant BRCA-EU 2 9537121 9537121 single base substitution A G upstream_gene_variant BRCA-EU 2 9543126 9543126 single base substitution G T downstream_gene_variant BRCA-EU 2 9543126 9543126 single base substitution G T intron_variant BRCA-EU 2 9543689 9543689 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 9543689 9543689 single base substitution A G downstream_gene_variant BRCA-EU 2 9543689 9543689 single base substitution A G exon_variant BRCA-EU 2 9545016 9545016 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 2 9545016 9545016 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 9545016 9545016 insertion of <=200bp - T exon_variant BRCA-EU 2 9546156 9546156 single base substitution G A downstream_gene_variant BRCA-EU 2 9547905 9547905 single base substitution G C downstream_gene_variant BRCA-EU 2 9548908 9548908 single base substitution G C downstream_gene_variant BRCA-EU 2 9549041 9549041 single base substitution G A downstream_gene_variant BRCA-EU 2 9549975 9549975 insertion of <=200bp - G downstream_gene_variant BRCA-FR 2 9342373 9342373 single base substitution C T upstream_gene_variant BRCA-FR 2 9342897 9342897 single base substitution C A upstream_gene_variant BRCA-FR 2 9343006 9343006 single base substitution G C upstream_gene_variant BRCA-FR 2 9350143 9350143 single base substitution C T intron_variant BRCA-FR 2 9355069 9355069 single base substitution G C intron_variant BRCA-FR 2 9359760 9359760 single base substitution C A intron_variant BRCA-FR 2 9361773 9361773 single base substitution T A intron_variant BRCA-FR 2 9361774 9361774 single base substitution C G intron_variant BRCA-FR 2 9361925 9361925 single base substitution C G intron_variant BRCA-FR 2 9362045 9362045 single base substitution C A intron_variant BRCA-FR 2 9362227 9362227 single base substitution C G intron_variant BRCA-FR 2 9362245 9362245 single base substitution C T intron_variant BRCA-FR 2 9362256 9362256 single base substitution C A intron_variant BRCA-FR 2 9362389 9362389 single base substitution C G intron_variant BRCA-FR 2 9363558 9363558 single base substitution T C intron_variant BRCA-FR 2 9364725 9364725 single base substitution C A intron_variant BRCA-FR 2 9365055 9365055 single base substitution C G intron_variant BRCA-FR 2 9380594 9380594 single base substitution C G intron_variant BRCA-FR 2 9381759 9381759 single base substitution C G intron_variant BRCA-FR 2 9385342 9385342 single base substitution C T intron_variant BRCA-FR 2 9386378 9386378 single base substitution C T intron_variant BRCA-FR 2 9388841 9388841 single base substitution C G intron_variant BRCA-FR 2 9390227 9390227 single base substitution C A intron_variant BRCA-FR 2 9400622 9400622 single base substitution C T intron_variant BRCA-FR 2 9408779 9408779 single base substitution C G intron_variant BRCA-FR 2 9418899 9418899 single base substitution G A intron_variant BRCA-FR 2 9423928 9423928 single base substitution C T intron_variant BRCA-FR 2 9426472 9426472 single base substitution A G intron_variant BRCA-FR 2 9435207 9435207 single base substitution C G intron_variant BRCA-FR 2 9466395 9466395 single base substitution G C intron_variant BRCA-FR 2 9466762 9466762 single base substitution C T intron_variant BRCA-FR 2 9474481 9474481 single base substitution G A intron_variant BRCA-FR 2 9481922 9481922 single base substitution C T intron_variant BRCA-FR 2 9494005 9494005 single base substitution G T intron_variant BRCA-FR 2 9504309 9504309 single base substitution G C intron_variant BRCA-FR 2 9508680 9508680 single base substitution G C intron_variant BRCA-FR 2 9509264 9509264 single base substitution C T intron_variant BRCA-FR 2 9518546 9518546 single base substitution G A intron_variant BRCA-FR 2 9531167 9531167 single base substitution C G intron_variant BRCA-FR 2 9531188 9531188 single base substitution C T intron_variant BRCA-FR 2 9531188 9531188 single base substitution C T splice_region_variant BRCA-FR 2 9531565 9531565 single base substitution C A intron_variant BRCA-FR 2 9534479 9534479 single base substitution G C intron_variant BRCA-FR 2 9534479 9534479 single base substitution G C upstream_gene_variant BRCA-FR 2 9535305 9535305 single base substitution C A intron_variant BRCA-FR 2 9535305 9535305 single base substitution C A upstream_gene_variant BRCA-FR 2 9538396 9538396 single base substitution T G intron_variant BRCA-FR 2 9538396 9538396 single base substitution T G upstream_gene_variant BRCA-FR 2 9541501 9541501 single base substitution C T downstream_gene_variant BRCA-FR 2 9541501 9541501 single base substitution C T exon_variant BRCA-FR 2 9541501 9541501 single base substitution C T synonymous_variant D929D 2787C>T BRCA-FR 2 9541501 9541501 single base substitution C T synonymous_variant D974D 2922C>T BRCA-UK 2 9344406 9344406 single base substitution C T upstream_gene_variant BRCA-UK 2 9407928 9407928 single base substitution G A intron_variant BRCA-UK 2 9417354 9417354 single base substitution C T intron_variant BRCA-UK 2 9423287 9423287 single base substitution G T intron_variant BRCA-UK 2 9434235 9434235 single base substitution C G intron_variant BRCA-UK 2 9458405 9458405 single base substitution C G intron_variant BRCA-US 2 9467980 9467980 single base substitution A G missense_variant K209R 626A>G BRCA-US 2 9484865 9484865 single base substitution G A missense_variant R320Q 959G>A BRCA-US 2 9496399 9496399 single base substitution G T exon_variant BRCA-US 2 9496399 9496399 single base substitution G T stop_gained E418* 1252G>T BRCA-US 2 9517076 9517076 single base substitution G A missense_variant V596M 1786G>A BRCA-US 2 9520932 9520932 single base substitution G A missense_variant E671K 2011G>A BRCA-US 2 9525431 9525431 single base substitution C T stop_gained R692* 2074C>T BRCA-US 2 9525431 9525431 single base substitution C T upstream_gene_variant BRCA-US 2 9531255 9531255 single base substitution C T intron_variant BRCA-US 2 9531255 9531255 single base substitution C T synonymous_variant S816S 2448C>T BRCA-US 2 9546974 9546974 single base substitution C T downstream_gene_variant BTCA-JP 2 9484762 9484762 single base substitution C T splice_region_variant BTCA-JP 2 9496362 9496362 single base substitution G T exon_variant BTCA-JP 2 9496362 9496362 single base substitution G T missense_variant K405N 1215G>T BTCA-JP 2 9540875 9540876 deletion of <=200bp TC - exon_variant BTCA-JP 2 9540875 9540876 deletion of <=200bp TC - frameshift_variant DL868 BTCA-JP 2 9540875 9540876 deletion of <=200bp TC - frameshift_variant DL913 BTCA-JP 2 9547523 9547523 single base substitution C T downstream_gene_variant CESC-US 2 9528642 9528642 insertion of <=200bp - C exon_variant CESC-US 2 9528642 9528642 insertion of <=200bp - C frameshift_variant A784R? CLLE-ES 2 9360862 9360862 deletion of <=200bp G - intron_variant CLLE-ES 2 9361950 9361950 single base substitution G A intron_variant CLLE-ES 2 9370517 9370517 single base substitution G A intron_variant CLLE-ES 2 9374444 9374444 single base substitution C T intron_variant CLLE-ES 2 9382208 9382208 single base substitution T C intron_variant CLLE-ES 2 9387845 9387845 single base substitution G A intron_variant CLLE-ES 2 9390384 9390384 single base substitution T C intron_variant CLLE-ES 2 9391256 9391256 single base substitution G A intron_variant CLLE-ES 2 9396588 9396588 single base substitution T C intron_variant CLLE-ES 2 9404123 9404123 single base substitution C T intron_variant CLLE-ES 2 9423732 9423732 single base substitution G A intron_variant CLLE-ES 2 9426437 9426437 single base substitution A C intron_variant CLLE-ES 2 9433558 9433558 single base substitution G A intron_variant CLLE-ES 2 9459935 9459935 single base substitution C T intron_variant CLLE-ES 2 9461593 9461593 single base substitution G A intron_variant CLLE-ES 2 9481387 9481387 single base substitution G T intron_variant CLLE-ES 2 9481959 9481959 single base substitution T C intron_variant CLLE-ES 2 9487421 9487421 single base substitution G T intron_variant CLLE-ES 2 9487421 9487421 single base substitution G T upstream_gene_variant CLLE-ES 2 9488986 9488986 single base substitution G T intron_variant CLLE-ES 2 9488986 9488986 single base substitution G T upstream_gene_variant CLLE-ES 2 9507785 9507785 single base substitution G T intron_variant CLLE-ES 2 9511849 9511849 single base substitution C A intron_variant CLLE-ES 2 9520046 9520046 single base substitution G A intron_variant CLLE-ES 2 9548260 9548260 single base substitution T C downstream_gene_variant COAD-US 2 9437520 9437520 single base substitution G A synonymous_variant A97A 291G>A COAD-US 2 9458704 9458704 single base substitution G A missense_variant G133R 397G>A COAD-US 2 9474866 9474866 insertion of <=200bp - T splice_acceptor_variant COAD-US 2 9475310 9475310 single base substitution T C splice_donor_variant COAD-US 2 9484763 9484763 single base substitution G A missense_variant G318R 952G>A COAD-US 2 9484865 9484865 single base substitution G A missense_variant R320Q 959G>A COAD-US 2 9514892 9514892 single base substitution G T missense_variant R522I 1565G>T COAD-US 2 9514917 9514917 single base substitution C T synonymous_variant Y530Y 1590C>T COAD-US 2 9514980 9514980 single base substitution C T synonymous_variant C551C 1653C>T COAD-US 2 9514994 9514994 single base substitution C T missense_variant T556M 1667C>T COAD-US 2 9520874 9520874 single base substitution C T synonymous_variant N651N 1953C>T COAD-US 2 9528458 9528458 single base substitution C A exon_variant COAD-US 2 9528458 9528458 single base substitution C A missense_variant S722R 2166C>A COAD-US 2 9528642 9528642 insertion of <=200bp - C exon_variant COAD-US 2 9528642 9528642 insertion of <=200bp - C frameshift_variant A784R? COAD-US 2 9533774 9533774 single base substitution G A splice_region_variant COAD-US 2 9543421 9543421 single base substitution T A downstream_gene_variant COAD-US 2 9543421 9543421 single base substitution T A exon_variant COAD-US 2 9543421 9543421 single base substitution T A missense_variant F951I 2851T>A COAD-US 2 9543421 9543421 single base substitution T A missense_variant F996I 2986T>A COAD-US 2 9543423 9543423 deletion of <=200bp C - downstream_gene_variant COAD-US 2 9543423 9543423 deletion of <=200bp C - exon_variant COAD-US 2 9543423 9543423 deletion of <=200bp C - frameshift_variant F951 COAD-US 2 9543423 9543423 deletion of <=200bp C - frameshift_variant F996 COAD-US 2 9548298 9548298 single base substitution C A downstream_gene_variant COCA-CN 2 9437697 9437697 single base substitution G T intron_variant COCA-CN 2 9445580 9445580 single base substitution A G intron_variant COCA-CN 2 9445658 9445658 single base substitution G A intron_variant COCA-CN 2 9458627 9458627 single base substitution A C intron_variant COCA-CN 2 9458810 9458810 single base substitution C T intron_variant COCA-CN 2 9491047 9491047 single base substitution G A intron_variant COCA-CN 2 9514911 9514911 single base substitution C T synonymous_variant A528A 1584C>T COCA-CN 2 9514957 9514957 single base substitution G A missense_variant A544T 1630G>A COCA-CN 2 9515100 9515100 single base substitution A T intron_variant COCA-CN 2 9528377 9528377 single base substitution A G intron_variant COCA-CN 2 9528377 9528377 single base substitution A G upstream_gene_variant COCA-CN 2 9540824 9540824 single base substitution G A intron_variant COCA-CN 2 9541431 9541431 single base substitution C T downstream_gene_variant COCA-CN 2 9541431 9541431 single base substitution C T exon_variant COCA-CN 2 9541431 9541431 single base substitution C T missense_variant A906V 2717C>T COCA-CN 2 9541431 9541431 single base substitution C T missense_variant A951V 2852C>T COCA-CN 2 9541597 9541597 single base substitution G A downstream_gene_variant COCA-CN 2 9541597 9541597 single base substitution G A intron_variant COCA-CN 2 9543498 9543498 single base substitution C T 3_prime_UTR_variant COCA-CN 2 9543498 9543498 single base substitution C T downstream_gene_variant COCA-CN 2 9543498 9543498 single base substitution C T exon_variant COCA-CN 2 9547611 9547611 single base substitution T C downstream_gene_variant COCA-CN 2 9548353 9548353 single base substitution T G downstream_gene_variant COCA-CN 2 9549975 9549975 single base substitution T G downstream_gene_variant EOPC-DE 2 9362985 9362985 single base substitution T C intron_variant EOPC-DE 2 9399502 9399502 single base substitution G T intron_variant EOPC-DE 2 9444928 9444928 single base substitution A G intron_variant EOPC-DE 2 9488373 9488373 single base substitution G A intron_variant EOPC-DE 2 9488373 9488373 single base substitution G A upstream_gene_variant EOPC-DE 2 9502299 9502299 single base substitution G A intron_variant EOPC-DE 2 9530193 9530193 single base substitution G A intron_variant ESAD-UK 2 9342306 9342306 single base substitution T A upstream_gene_variant ESAD-UK 2 9342462 9342462 single base substitution C T upstream_gene_variant ESAD-UK 2 9344209 9344209 single base substitution A G upstream_gene_variant ESAD-UK 2 9344764 9344764 single base substitution T C upstream_gene_variant ESAD-UK 2 9345262 9345262 single base substitution A G upstream_gene_variant ESAD-UK 2 9345376 9345376 single base substitution C T upstream_gene_variant ESAD-UK 2 9345865 9345865 single base substitution C A upstream_gene_variant ESAD-UK 2 9347004 9347004 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 9348111 9348111 single base substitution C T intron_variant ESAD-UK 2 9348691 9348691 single base substitution G A intron_variant ESAD-UK 2 9352141 9352141 single base substitution T C intron_variant ESAD-UK 2 9353749 9353749 single base substitution G T intron_variant ESAD-UK 2 9354971 9354971 single base substitution C T intron_variant ESAD-UK 2 9355654 9355654 single base substitution C A intron_variant ESAD-UK 2 9362429 9362429 single base substitution C G intron_variant ESAD-UK 2 9363397 9363397 single base substitution C T intron_variant ESAD-UK 2 9363772 9363772 single base substitution C T intron_variant ESAD-UK 2 9366272 9366272 single base substitution A C intron_variant ESAD-UK 2 9368967 9368967 single base substitution A G intron_variant ESAD-UK 2 9373284 9373284 single base substitution G A intron_variant ESAD-UK 2 9374483 9374483 single base substitution C T intron_variant ESAD-UK 2 9376691 9376691 single base substitution G C intron_variant ESAD-UK 2 9378273 9378273 single base substitution T G intron_variant ESAD-UK 2 9381934 9381934 single base substitution G T intron_variant ESAD-UK 2 9382948 9382948 single base substitution A C intron_variant ESAD-UK 2 9383311 9383311 single base substitution C T intron_variant ESAD-UK 2 9387647 9387647 single base substitution G A intron_variant ESAD-UK 2 9392722 9392722 deletion of <=200bp A - intron_variant ESAD-UK 2 9393865 9393865 single base substitution T G intron_variant ESAD-UK 2 9403997 9403997 insertion of <=200bp - T intron_variant ESAD-UK 2 9405760 9405760 single base substitution T A intron_variant ESAD-UK 2 9406082 9406082 single base substitution T C intron_variant ESAD-UK 2 9407271 9407271 single base substitution T A intron_variant ESAD-UK 2 9407324 9407324 single base substitution G A intron_variant ESAD-UK 2 9408651 9408651 single base substitution C T intron_variant ESAD-UK 2 9408892 9408892 single base substitution G A intron_variant ESAD-UK 2 9409441 9409441 single base substitution C T intron_variant ESAD-UK 2 9409741 9409741 single base substitution T C intron_variant ESAD-UK 2 9411536 9411536 single base substitution C T intron_variant ESAD-UK 2 9414703 9414703 single base substitution C T intron_variant ESAD-UK 2 9415448 9415448 single base substitution C T intron_variant ESAD-UK 2 9417846 9417846 single base substitution C G intron_variant ESAD-UK 2 9421834 9421834 single base substitution C T intron_variant ESAD-UK 2 9426573 9426573 insertion of <=200bp - AT intron_variant ESAD-UK 2 9429265 9429265 single base substitution G A intron_variant ESAD-UK 2 9429266 9429266 single base substitution A T intron_variant ESAD-UK 2 9429712 9429712 single base substitution C A intron_variant ESAD-UK 2 9429894 9429899 deletion of <=200bp ATTTTA - intron_variant ESAD-UK 2 9432362 9432362 single base substitution A G intron_variant ESAD-UK 2 9433227 9433227 single base substitution T A intron_variant ESAD-UK 2 9438976 9438976 single base substitution A G intron_variant ESAD-UK 2 9439022 9439022 single base substitution A C intron_variant ESAD-UK 2 9439815 9439815 single base substitution G A intron_variant ESAD-UK 2 9440437 9440437 single base substitution C A intron_variant ESAD-UK 2 9442105 9442105 single base substitution G A intron_variant ESAD-UK 2 9445885 9445887 deletion of <=200bp TGG - intron_variant ESAD-UK 2 9447210 9447210 single base substitution A G intron_variant ESAD-UK 2 9447295 9447295 single base substitution T G intron_variant ESAD-UK 2 9448120 9448120 single base substitution A G intron_variant ESAD-UK 2 9448903 9448903 single base substitution C T intron_variant ESAD-UK 2 9450718 9450718 single base substitution A G intron_variant ESAD-UK 2 9455565 9455565 single base substitution G A intron_variant ESAD-UK 2 9459935 9459935 single base substitution C T intron_variant ESAD-UK 2 9462949 9462949 single base substitution A C intron_variant ESAD-UK 2 9463671 9463671 single base substitution G A intron_variant ESAD-UK 2 9463687 9463687 single base substitution G A intron_variant ESAD-UK 2 9463738 9463738 single base substitution G T intron_variant ESAD-UK 2 9463829 9463829 single base substitution T G intron_variant ESAD-UK 2 9463846 9463846 single base substitution T A intron_variant ESAD-UK 2 9465124 9465124 single base substitution T G intron_variant ESAD-UK 2 9465324 9465324 single base substitution T C intron_variant ESAD-UK 2 9465616 9465616 single base substitution C T intron_variant ESAD-UK 2 9468832 9468832 single base substitution C T intron_variant ESAD-UK 2 9470089 9470089 single base substitution T C intron_variant ESAD-UK 2 9470362 9470362 insertion of <=200bp - A intron_variant ESAD-UK 2 9471029 9471029 single base substitution G A intron_variant ESAD-UK 2 9471339 9471339 single base substitution C A intron_variant ESAD-UK 2 9475051 9475051 single base substitution G A intron_variant ESAD-UK 2 9477133 9477133 single base substitution G C intron_variant ESAD-UK 2 9478477 9478484 deletion of <=200bp TCTCTCTC - intron_variant ESAD-UK 2 9478902 9478902 single base substitution C T intron_variant ESAD-UK 2 9479518 9479518 single base substitution T C intron_variant ESAD-UK 2 9481572 9481572 single base substitution T C intron_variant ESAD-UK 2 9481873 9481873 single base substitution C T intron_variant ESAD-UK 2 9482446 9482446 single base substitution T C intron_variant ESAD-UK 2 9482924 9482924 single base substitution C T intron_variant ESAD-UK 2 9483291 9483291 single base substitution A G intron_variant ESAD-UK 2 9484805 9484805 single base substitution T C intron_variant ESAD-UK 2 9485814 9485814 single base substitution G T intron_variant ESAD-UK 2 9485814 9485814 single base substitution G T upstream_gene_variant ESAD-UK 2 9486387 9486387 single base substitution C G intron_variant ESAD-UK 2 9486387 9486387 single base substitution C G upstream_gene_variant ESAD-UK 2 9486482 9486482 single base substitution T C intron_variant ESAD-UK 2 9486482 9486482 single base substitution T C upstream_gene_variant ESAD-UK 2 9487550 9487550 single base substitution C G intron_variant ESAD-UK 2 9487550 9487550 single base substitution C G upstream_gene_variant ESAD-UK 2 9493416 9493416 single base substitution C G intron_variant ESAD-UK 2 9495344 9495344 single base substitution C T intron_variant ESAD-UK 2 9495615 9495615 single base substitution C A intron_variant ESAD-UK 2 9496452 9496452 single base substitution C T downstream_gene_variant ESAD-UK 2 9496452 9496452 single base substitution C T synonymous_variant V435V 1305C>T ESAD-UK 2 9496457 9496457 single base substitution G T downstream_gene_variant ESAD-UK 2 9496457 9496457 single base substitution G T missense_variant C437F 1310G>T ESAD-UK 2 9498752 9498752 single base substitution T G downstream_gene_variant ESAD-UK 2 9498752 9498752 single base substitution T G intron_variant ESAD-UK 2 9501367 9501367 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 9501367 9501367 insertion of <=200bp - T intron_variant ESAD-UK 2 9502541 9502541 deletion of <=200bp T - intron_variant ESAD-UK 2 9503725 9503725 deletion of <=200bp T - intron_variant ESAD-UK 2 9506052 9506052 single base substitution T G intron_variant ESAD-UK 2 9506959 9506959 single base substitution A T intron_variant ESAD-UK 2 9507314 9507314 single base substitution C T intron_variant ESAD-UK 2 9509700 9509700 single base substitution G A intron_variant ESAD-UK 2 9511562 9511562 single base substitution G T intron_variant ESAD-UK 2 9512909 9512909 single base substitution C T intron_variant ESAD-UK 2 9513306 9513306 single base substitution G A intron_variant ESAD-UK 2 9514109 9514109 single base substitution G A intron_variant ESAD-UK 2 9516338 9516338 single base substitution C T intron_variant ESAD-UK 2 9516617 9516617 single base substitution T G intron_variant ESAD-UK 2 9517342 9517342 single base substitution T C intron_variant ESAD-UK 2 9520507 9520507 single base substitution A G intron_variant ESAD-UK 2 9521010 9521010 single base substitution C T intron_variant ESAD-UK 2 9522841 9522841 single base substitution A C intron_variant ESAD-UK 2 9524936 9524936 single base substitution T G intron_variant ESAD-UK 2 9524936 9524936 single base substitution T G upstream_gene_variant ESAD-UK 2 9525135 9525135 single base substitution C T intron_variant ESAD-UK 2 9525135 9525135 single base substitution C T upstream_gene_variant ESAD-UK 2 9528270 9528270 single base substitution C T intron_variant ESAD-UK 2 9528270 9528270 single base substitution C T upstream_gene_variant ESAD-UK 2 9529283 9529283 single base substitution C A intron_variant ESAD-UK 2 9532258 9532258 single base substitution A G intron_variant ESAD-UK 2 9532276 9532276 single base substitution G A intron_variant ESAD-UK 2 9535160 9535160 single base substitution C T intron_variant ESAD-UK 2 9535160 9535160 single base substitution C T upstream_gene_variant ESAD-UK 2 9537185 9537185 single base substitution C T intron_variant ESAD-UK 2 9537185 9537185 single base substitution C T upstream_gene_variant ESAD-UK 2 9538421 9538421 single base substitution T C intron_variant ESAD-UK 2 9538421 9538421 single base substitution T C upstream_gene_variant ESAD-UK 2 9539225 9539225 single base substitution C T exon_variant ESAD-UK 2 9539225 9539225 single base substitution C T intron_variant ESAD-UK 2 9542522 9542522 single base substitution G A downstream_gene_variant ESAD-UK 2 9542522 9542522 single base substitution G A intron_variant ESAD-UK 2 9542685 9542685 single base substitution C T downstream_gene_variant ESAD-UK 2 9542685 9542685 single base substitution C T intron_variant ESAD-UK 2 9549711 9549711 single base substitution C T downstream_gene_variant ESCA-CN 2 9544866 9544866 insertion of <=200bp - T 3_prime_UTR_variant ESCA-CN 2 9544866 9544866 insertion of <=200bp - T downstream_gene_variant ESCA-CN 2 9544866 9544866 insertion of <=200bp - T exon_variant GBM-US 2 9347326 9347326 single base substitution G A synonymous_variant A31A 93G>A GBM-US 2 9517083 9517083 single base substitution G A missense_variant R598Q 1793G>A GBM-US 2 9547680 9547681 deletion of <=200bp AC - downstream_gene_variant KIRC-US 2 9484692 9484692 single base substitution G A missense_variant S294N 881G>A KIRC-US 2 9531296 9531296 single base substitution C T intron_variant KIRC-US 2 9531296 9531296 single base substitution C T missense_variant P830L 2489C>T KIRC-US 2 9533614 9533614 single base substitution C A exon_variant KIRC-US 2 9533614 9533614 single base substitution C A missense_variant P796H 2387C>A KIRC-US 2 9533614 9533614 single base substitution C A missense_variant P841H 2522C>A KIRC-US 2 9543400 9543400 single base substitution G C downstream_gene_variant KIRC-US 2 9543400 9543400 single base substitution G C exon_variant KIRC-US 2 9543400 9543400 single base substitution G C missense_variant D944H 2830G>C KIRC-US 2 9543400 9543400 single base substitution G C missense_variant D989H 2965G>C KIRP-US 2 9515020 9515020 single base substitution G C missense_variant A565P 1693G>C KIRP-US 2 9515054 9515054 single base substitution T C missense_variant I576T 1727T>C KIRP-US 2 9528579 9528579 single base substitution T C exon_variant KIRP-US 2 9528579 9528579 single base substitution T C missense_variant Y763H 2287T>C KIRP-US 2 9533671 9533671 single base substitution T C exon_variant KIRP-US 2 9533671 9533671 single base substitution T C missense_variant L815S 2444T>C KIRP-US 2 9533671 9533671 single base substitution T C missense_variant L860S 2579T>C LAML-KR 2 9445457 9445457 single base substitution G A intron_variant LAML-KR 2 9519201 9519201 single base substitution G A intron_variant LAML-KR 2 9546637 9546637 single base substitution C A downstream_gene_variant LICA-CN 2 9463316 9463316 single base substitution C A missense_variant S179R 537C>A LICA-FR 2 9357147 9357147 single base substitution C T intron_variant LICA-FR 2 9378280 9378280 single base substitution C T intron_variant LICA-FR 2 9380686 9380686 single base substitution T C intron_variant LICA-FR 2 9407177 9407177 single base substitution C T intron_variant LICA-FR 2 9409730 9409730 single base substitution G T intron_variant LICA-FR 2 9445666 9445666 single base substitution A G intron_variant LICA-FR 2 9445899 9445899 single base substitution T G intron_variant LICA-FR 2 9446102 9446102 single base substitution G A intron_variant LICA-FR 2 9457092 9457092 single base substitution A C intron_variant LICA-FR 2 9469743 9469743 single base substitution G C intron_variant LICA-FR 2 9474331 9474331 insertion of <=200bp - T intron_variant LICA-FR 2 9498914 9498914 single base substitution A G downstream_gene_variant LICA-FR 2 9498914 9498914 single base substitution A G missense_variant I453V 1357A>G LICA-FR 2 9519340 9519340 single base substitution G C intron_variant LICA-FR 2 9522894 9522894 single base substitution A C intron_variant LICA-FR 2 9525020 9525020 single base substitution G T intron_variant LICA-FR 2 9525020 9525020 single base substitution G T upstream_gene_variant LICA-FR 2 9542909 9542912 deletion of <=200bp TATC - downstream_gene_variant LICA-FR 2 9542909 9542912 deletion of <=200bp TATC - intron_variant LICA-FR 2 9546328 9546328 single base substitution T G downstream_gene_variant LIHC-US 2 9347355 9347355 single base substitution A T missense_variant E41V 122A>T LIHC-US 2 9508603 9508603 single base substitution G A missense_variant C504Y 1511G>A LIHC-US 2 9515031 9515031 single base substitution T C synonymous_variant D568D 1704T>C LIHC-US 2 9533657 9533657 single base substitution C A exon_variant LIHC-US 2 9533657 9533657 single base substitution C A missense_variant S810R 2430C>A LIHC-US 2 9533657 9533657 single base substitution C A missense_variant S855R 2565C>A LIHC-US 2 9541497 9541497 single base substitution T C downstream_gene_variant LIHC-US 2 9541497 9541497 single base substitution T C exon_variant LIHC-US 2 9541497 9541497 single base substitution T C missense_variant V928A 2783T>C LIHC-US 2 9541497 9541497 single base substitution T C missense_variant V973A 2918T>C LINC-JP 2 9347233 9347233 single base substitution G A 5_prime_UTR_variant LINC-JP 2 9349580 9349580 single base substitution A G intron_variant LINC-JP 2 9355795 9355795 deletion of <=200bp T - intron_variant LINC-JP 2 9358042 9358042 deletion of <=200bp T - intron_variant LINC-JP 2 9365091 9365091 single base substitution G A intron_variant LINC-JP 2 9377348 9377348 single base substitution G A intron_variant LINC-JP 2 9380397 9380397 single base substitution A T intron_variant LINC-JP 2 9402922 9402922 single base substitution C T intron_variant LINC-JP 2 9420563 9420563 single base substitution C A intron_variant LINC-JP 2 9425092 9425092 single base substitution T G intron_variant LINC-JP 2 9442252 9442252 deletion of <=200bp T - intron_variant LINC-JP 2 9460451 9460451 single base substitution A G missense_variant D152G 455A>G LINC-JP 2 9471900 9471900 single base substitution A G intron_variant LINC-JP 2 9475214 9475214 single base substitution T G splice_region_variant LINC-JP 2 9479263 9479263 single base substitution G A intron_variant LINC-JP 2 9484864 9484864 single base substitution C A synonymous_variant R320R 958C>A LINC-JP 2 9485132 9485132 single base substitution T A intron_variant LINC-JP 2 9485134 9485134 single base substitution A T intron_variant LINC-JP 2 9496162 9496162 single base substitution C A intron_variant LINC-JP 2 9497306 9497306 insertion of <=200bp - A downstream_gene_variant LINC-JP 2 9497306 9497306 insertion of <=200bp - A intron_variant LINC-JP 2 9514665 9514665 single base substitution A T intron_variant LINC-JP 2 9515100 9515100 single base substitution A T intron_variant LINC-JP 2 9515114 9515114 single base substitution G A intron_variant LINC-JP 2 9527207 9527207 single base substitution T G intron_variant LINC-JP 2 9527207 9527207 single base substitution T G upstream_gene_variant LINC-JP 2 9530973 9530973 single base substitution G T intron_variant LINC-JP 2 9535529 9535529 single base substitution A T intron_variant LINC-JP 2 9535529 9535529 single base substitution A T upstream_gene_variant LINC-JP 2 9540759 9540759 single base substitution C T intron_variant LINC-JP 2 9547800 9547800 single base substitution C T downstream_gene_variant LIRI-JP 2 9341973 9341973 single base substitution T A upstream_gene_variant LIRI-JP 2 9342293 9342293 single base substitution A G upstream_gene_variant LIRI-JP 2 9343154 9343154 single base substitution A G upstream_gene_variant LIRI-JP 2 9344762 9344762 single base substitution T A upstream_gene_variant LIRI-JP 2 9345724 9345724 single base substitution T A upstream_gene_variant LIRI-JP 2 9346275 9346275 single base substitution A T upstream_gene_variant LIRI-JP 2 9348730 9348730 single base substitution C T intron_variant LIRI-JP 2 9349460 9349460 single base substitution A G intron_variant LIRI-JP 2 9349688 9349688 single base substitution A T intron_variant LIRI-JP 2 9350433 9350433 single base substitution A G intron_variant LIRI-JP 2 9351472 9351472 single base substitution T C intron_variant LIRI-JP 2 9352985 9352985 single base substitution C T intron_variant LIRI-JP 2 9357869 9357869 single base substitution G A intron_variant LIRI-JP 2 9358527 9358527 single base substitution C A intron_variant LIRI-JP 2 9360263 9360263 single base substitution C G intron_variant LIRI-JP 2 9360333 9360333 single base substitution T C intron_variant LIRI-JP 2 9361723 9361723 single base substitution G A intron_variant LIRI-JP 2 9361767 9361767 single base substitution T C intron_variant LIRI-JP 2 9362207 9362207 single base substitution G A intron_variant LIRI-JP 2 9362232 9362232 single base substitution C T intron_variant LIRI-JP 2 9362313 9362313 single base substitution A G intron_variant LIRI-JP 2 9366793 9366795 deletion of <=200bp CTT - intron_variant LIRI-JP 2 9368304 9368304 single base substitution C G intron_variant LIRI-JP 2 9368924 9368924 single base substitution T C intron_variant LIRI-JP 2 9374093 9374093 single base substitution A T intron_variant LIRI-JP 2 9376604 9376604 single base substitution A G intron_variant LIRI-JP 2 9379296 9379296 single base substitution G T intron_variant LIRI-JP 2 9380757 9380757 single base substitution A C intron_variant LIRI-JP 2 9382081 9382081 single base substitution A G intron_variant LIRI-JP 2 9382747 9382747 single base substitution G T intron_variant LIRI-JP 2 9388255 9388256 deletion of <=200bp AT - intron_variant LIRI-JP 2 9388659 9388659 single base substitution A T intron_variant LIRI-JP 2 9389138 9389138 single base substitution C A intron_variant LIRI-JP 2 9391787 9391787 single base substitution G A intron_variant LIRI-JP 2 9392936 9392936 single base substitution T A intron_variant LIRI-JP 2 9393189 9393189 single base substitution G A intron_variant LIRI-JP 2 9397773 9397773 single base substitution G T intron_variant LIRI-JP 2 9398397 9398397 single base substitution A G intron_variant LIRI-JP 2 9399461 9399461 single base substitution T G intron_variant LIRI-JP 2 9403389 9403389 single base substitution T A intron_variant LIRI-JP 2 9404716 9404716 single base substitution C T intron_variant LIRI-JP 2 9407618 9407618 single base substitution G A intron_variant LIRI-JP 2 9409517 9409517 single base substitution C T intron_variant LIRI-JP 2 9409770 9409770 single base substitution G C intron_variant LIRI-JP 2 9409890 9409890 single base substitution G T intron_variant LIRI-JP 2 9409908 9409908 single base substitution A G intron_variant LIRI-JP 2 9410250 9410250 single base substitution A G intron_variant LIRI-JP 2 9410796 9410796 single base substitution C T intron_variant LIRI-JP 2 9412322 9412322 single base substitution C G intron_variant LIRI-JP 2 9413374 9413374 single base substitution G A intron_variant LIRI-JP 2 9413611 9413611 single base substitution C G intron_variant LIRI-JP 2 9414975 9414975 single base substitution A T intron_variant LIRI-JP 2 9415939 9415939 single base substitution G T intron_variant LIRI-JP 2 9416199 9416199 single base substitution C A intron_variant LIRI-JP 2 9416692 9416692 single base substitution A T intron_variant LIRI-JP 2 9417371 9417371 single base substitution G C intron_variant LIRI-JP 2 9423938 9423938 single base substitution C T intron_variant LIRI-JP 2 9426015 9426015 single base substitution A G intron_variant LIRI-JP 2 9428173 9428173 single base substitution C T intron_variant LIRI-JP 2 9429055 9429055 single base substitution A G intron_variant LIRI-JP 2 9430258 9430258 single base substitution A C intron_variant LIRI-JP 2 9430908 9430908 single base substitution C T intron_variant LIRI-JP 2 9431921 9431921 single base substitution T C intron_variant LIRI-JP 2 9432123 9432123 single base substitution G A intron_variant LIRI-JP 2 9433520 9433520 single base substitution G C intron_variant LIRI-JP 2 9434252 9434252 single base substitution C T intron_variant LIRI-JP 2 9434393 9434393 single base substitution G T intron_variant LIRI-JP 2 9434776 9434776 single base substitution C T intron_variant LIRI-JP 2 9435958 9435958 single base substitution C G intron_variant LIRI-JP 2 9438994 9438994 single base substitution G T intron_variant LIRI-JP 2 9442710 9442710 single base substitution T G intron_variant LIRI-JP 2 9449215 9449215 single base substitution G A intron_variant LIRI-JP 2 9453361 9453361 single base substitution A T intron_variant LIRI-JP 2 9453639 9453639 single base substitution C A intron_variant LIRI-JP 2 9454795 9454795 single base substitution G T intron_variant LIRI-JP 2 9455034 9455034 single base substitution T G intron_variant LIRI-JP 2 9455149 9455149 single base substitution G A intron_variant LIRI-JP 2 9456419 9456419 single base substitution G A intron_variant LIRI-JP 2 9459970 9459970 single base substitution G A intron_variant LIRI-JP 2 9464568 9464568 single base substitution A G intron_variant LIRI-JP 2 9465277 9465277 single base substitution A G intron_variant LIRI-JP 2 9467221 9467221 single base substitution A G intron_variant LIRI-JP 2 9470847 9470847 single base substitution G T intron_variant LIRI-JP 2 9470873 9470873 single base substitution A T intron_variant LIRI-JP 2 9471928 9471928 single base substitution G A intron_variant LIRI-JP 2 9474593 9474593 single base substitution C G intron_variant LIRI-JP 2 9475267 9475268 deletion of <=200bp CG - frameshift_variant R270 LIRI-JP 2 9476106 9476106 single base substitution G A intron_variant LIRI-JP 2 9477970 9477970 single base substitution C G intron_variant LIRI-JP 2 9480476 9480476 single base substitution A T intron_variant LIRI-JP 2 9480990 9480990 single base substitution A G intron_variant LIRI-JP 2 9481962 9481962 single base substitution A G intron_variant LIRI-JP 2 9482561 9482561 single base substitution G A intron_variant LIRI-JP 2 9483565 9483568 deletion of <=200bp TGTT - intron_variant LIRI-JP 2 9488271 9488271 single base substitution T C intron_variant LIRI-JP 2 9488271 9488271 single base substitution T C upstream_gene_variant LIRI-JP 2 9489988 9489988 single base substitution A T intron_variant LIRI-JP 2 9489988 9489988 single base substitution A T upstream_gene_variant LIRI-JP 2 9492688 9492688 single base substitution G C intron_variant LIRI-JP 2 9495945 9495945 single base substitution G A intron_variant LIRI-JP 2 9496070 9496070 single base substitution A G intron_variant LIRI-JP 2 9496094 9496094 single base substitution G T intron_variant LIRI-JP 2 9496095 9496095 single base substitution G T intron_variant LIRI-JP 2 9497153 9497153 single base substitution G A downstream_gene_variant LIRI-JP 2 9497153 9497153 single base substitution G A intron_variant LIRI-JP 2 9497492 9497492 single base substitution C T downstream_gene_variant LIRI-JP 2 9497492 9497492 single base substitution C T intron_variant LIRI-JP 2 9497909 9497929 deletion of <=200bp TGGATAACATTTTTAATAACT - downstream_gene_variant LIRI-JP 2 9497909 9497929 deletion of <=200bp TGGATAACATTTTTAATAACT - intron_variant LIRI-JP 2 9498234 9498234 single base substitution A C downstream_gene_variant LIRI-JP 2 9498234 9498234 single base substitution A C intron_variant LIRI-JP 2 9501487 9501487 deletion of <=200bp A - intron_variant LIRI-JP 2 9501501 9501501 single base substitution C T intron_variant LIRI-JP 2 9504414 9504414 single base substitution A G intron_variant LIRI-JP 2 9504775 9504775 single base substitution A T intron_variant LIRI-JP 2 9508470 9508470 deletion of <=200bp A - intron_variant LIRI-JP 2 9508781 9508781 single base substitution G T intron_variant LIRI-JP 2 9510234 9510234 single base substitution T C intron_variant LIRI-JP 2 9511729 9511729 single base substitution G C intron_variant LIRI-JP 2 9512264 9512264 single base substitution C T intron_variant LIRI-JP 2 9515048 9515048 deletion of <=200bp A - frameshift_variant E574 LIRI-JP 2 9515721 9515721 single base substitution A T intron_variant LIRI-JP 2 9516906 9516906 single base substitution A C intron_variant LIRI-JP 2 9517262 9517262 single base substitution G T intron_variant LIRI-JP 2 9519687 9519689 deletion of <=200bp CGA - intron_variant LIRI-JP 2 9521575 9521575 single base substitution G T intron_variant LIRI-JP 2 9523956 9523956 single base substitution G C intron_variant LIRI-JP 2 9523956 9523956 single base substitution G C upstream_gene_variant LIRI-JP 2 9526159 9526159 single base substitution A C intron_variant LIRI-JP 2 9526159 9526159 single base substitution A C upstream_gene_variant LIRI-JP 2 9527747 9527747 single base substitution A T intron_variant LIRI-JP 2 9527747 9527747 single base substitution A T upstream_gene_variant LIRI-JP 2 9530019 9530019 single base substitution C A intron_variant LIRI-JP 2 9530193 9530193 single base substitution G A intron_variant LIRI-JP 2 9533907 9533907 single base substitution G T intron_variant LIRI-JP 2 9534598 9534598 single base substitution T A intron_variant LIRI-JP 2 9534598 9534598 single base substitution T A upstream_gene_variant LIRI-JP 2 9535558 9535558 single base substitution C T intron_variant LIRI-JP 2 9535558 9535558 single base substitution C T upstream_gene_variant LIRI-JP 2 9537216 9537216 single base substitution G T intron_variant LIRI-JP 2 9537216 9537216 single base substitution G T upstream_gene_variant LIRI-JP 2 9537567 9537567 single base substitution C T intron_variant LIRI-JP 2 9537567 9537567 single base substitution C T upstream_gene_variant LIRI-JP 2 9541060 9541060 single base substitution G A downstream_gene_variant LIRI-JP 2 9541060 9541060 single base substitution G A intron_variant LIRI-JP 2 9541296 9541296 single base substitution C A downstream_gene_variant LIRI-JP 2 9541296 9541296 single base substitution C A intron_variant LIRI-JP 2 9542868 9542868 single base substitution A G downstream_gene_variant LIRI-JP 2 9542868 9542868 single base substitution A G intron_variant LIRI-JP 2 9544349 9544349 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 9544349 9544349 single base substitution A G downstream_gene_variant LIRI-JP 2 9544349 9544349 single base substitution A G exon_variant LIRI-JP 2 9544493 9544493 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 9544493 9544493 single base substitution T C downstream_gene_variant LIRI-JP 2 9544493 9544493 single base substitution T C exon_variant LIRI-JP 2 9547492 9547492 single base substitution T G downstream_gene_variant LIRI-JP 2 9547659 9547659 single base substitution C T downstream_gene_variant LIRI-JP 2 9548357 9548371 deletion of <=200bp ATGATAAAGATTAAA - downstream_gene_variant LIRI-JP 2 9548935 9548935 insertion of <=200bp - ATGAAAGGG downstream_gene_variant LIRI-JP 2 9548957 9548957 insertion of <=200bp - A downstream_gene_variant LIRI-JP 2 9549515 9549515 single base substitution C A downstream_gene_variant LIRI-JP 2 9549516 9549516 single base substitution C A downstream_gene_variant LIRI-JP 2 9550661 9550661 single base substitution G C downstream_gene_variant LUSC-KR 2 9343566 9343566 single base substitution G T upstream_gene_variant LUSC-KR 2 9344926 9344926 single base substitution A G upstream_gene_variant LUSC-KR 2 9345265 9345265 single base substitution C A upstream_gene_variant LUSC-KR 2 9353226 9353226 single base substitution G T intron_variant LUSC-KR 2 9353344 9353344 single base substitution G C intron_variant LUSC-KR 2 9353397 9353397 single base substitution G C intron_variant LUSC-KR 2 9354120 9354120 single base substitution G T intron_variant LUSC-KR 2 9354391 9354391 single base substitution G C intron_variant LUSC-KR 2 9366716 9366716 single base substitution G A intron_variant LUSC-KR 2 9370544 9370544 single base substitution C T intron_variant LUSC-KR 2 9373011 9373011 single base substitution T C intron_variant LUSC-KR 2 9375069 9375069 single base substitution T C intron_variant LUSC-KR 2 9378235 9378235 single base substitution G C intron_variant LUSC-KR 2 9384600 9384600 single base substitution C T intron_variant LUSC-KR 2 9384793 9384793 single base substitution A T intron_variant LUSC-KR 2 9391458 9391458 single base substitution C T intron_variant LUSC-KR 2 9391624 9391624 single base substitution G A intron_variant LUSC-KR 2 9395292 9395292 single base substitution A T intron_variant LUSC-KR 2 9404544 9404544 single base substitution G T intron_variant LUSC-KR 2 9404696 9404696 single base substitution A G intron_variant LUSC-KR 2 9405122 9405122 single base substitution G C intron_variant LUSC-KR 2 9407771 9407771 single base substitution A G intron_variant LUSC-KR 2 9410492 9410492 single base substitution C A intron_variant LUSC-KR 2 9410984 9410984 single base substitution C T intron_variant LUSC-KR 2 9411078 9411078 single base substitution C T intron_variant LUSC-KR 2 9412602 9412602 single base substitution G A intron_variant LUSC-KR 2 9417267 9417267 single base substitution G T intron_variant LUSC-KR 2 9417268 9417268 single base substitution G A intron_variant LUSC-KR 2 9418355 9418355 single base substitution C G intron_variant LUSC-KR 2 9419411 9419411 single base substitution G A intron_variant LUSC-KR 2 9419415 9419415 single base substitution C T intron_variant LUSC-KR 2 9427607 9427607 single base substitution G T intron_variant LUSC-KR 2 9430358 9430358 single base substitution A G intron_variant LUSC-KR 2 9430420 9430420 single base substitution C T intron_variant LUSC-KR 2 9433891 9433891 single base substitution T A intron_variant LUSC-KR 2 9435960 9435960 single base substitution A T intron_variant LUSC-KR 2 9437654 9437654 single base substitution G T intron_variant LUSC-KR 2 9442658 9442658 single base substitution C A intron_variant LUSC-KR 2 9443503 9443503 single base substitution C T intron_variant LUSC-KR 2 9443844 9443844 single base substitution A C intron_variant LUSC-KR 2 9445447 9445447 single base substitution G A intron_variant LUSC-KR 2 9445457 9445457 single base substitution G A intron_variant LUSC-KR 2 9445638 9445638 single base substitution G A intron_variant LUSC-KR 2 9452519 9452519 single base substitution G T intron_variant LUSC-KR 2 9452791 9452791 single base substitution T G intron_variant LUSC-KR 2 9455238 9455238 single base substitution T A intron_variant LUSC-KR 2 9459360 9459360 single base substitution C G intron_variant LUSC-KR 2 9459619 9459619 single base substitution G T intron_variant LUSC-KR 2 9459693 9459693 single base substitution C T intron_variant LUSC-KR 2 9460933 9460933 single base substitution C T intron_variant LUSC-KR 2 9464404 9464404 single base substitution A G intron_variant LUSC-KR 2 9466592 9466592 single base substitution G T intron_variant LUSC-KR 2 9473558 9473558 single base substitution G A intron_variant LUSC-KR 2 9478365 9478365 single base substitution G T intron_variant LUSC-KR 2 9483482 9483482 single base substitution T C intron_variant LUSC-KR 2 9483796 9483796 single base substitution G T intron_variant LUSC-KR 2 9485756 9485756 single base substitution G T intron_variant LUSC-KR 2 9485756 9485756 single base substitution G T upstream_gene_variant LUSC-KR 2 9494101 9494101 single base substitution C T intron_variant LUSC-KR 2 9494103 9494103 single base substitution C T intron_variant LUSC-KR 2 9494829 9494829 single base substitution C T intron_variant LUSC-KR 2 9495526 9495526 single base substitution G A intron_variant LUSC-KR 2 9498863 9498863 single base substitution T C downstream_gene_variant LUSC-KR 2 9498863 9498863 single base substitution T C intron_variant LUSC-KR 2 9503355 9503355 single base substitution C T intron_variant LUSC-KR 2 9511462 9511462 single base substitution C T intron_variant LUSC-KR 2 9514649 9514649 single base substitution C T intron_variant LUSC-KR 2 9517906 9517906 single base substitution G C intron_variant LUSC-KR 2 9524086 9524086 single base substitution G C intron_variant LUSC-KR 2 9524086 9524086 single base substitution G C upstream_gene_variant LUSC-KR 2 9524342 9524342 single base substitution G T intron_variant LUSC-KR 2 9524342 9524342 single base substitution G T upstream_gene_variant LUSC-KR 2 9525770 9525770 single base substitution G T intron_variant LUSC-KR 2 9525770 9525770 single base substitution G T upstream_gene_variant LUSC-KR 2 9526776 9526776 single base substitution G C intron_variant LUSC-KR 2 9526776 9526776 single base substitution G C upstream_gene_variant LUSC-KR 2 9530088 9530088 single base substitution A G intron_variant LUSC-KR 2 9532496 9532496 single base substitution T C intron_variant LUSC-KR 2 9536183 9536183 single base substitution C G intron_variant LUSC-KR 2 9536183 9536183 single base substitution C G upstream_gene_variant LUSC-KR 2 9536902 9536902 single base substitution G T intron_variant LUSC-KR 2 9536902 9536902 single base substitution G T upstream_gene_variant LUSC-KR 2 9537927 9537927 single base substitution G A intron_variant LUSC-KR 2 9537927 9537927 single base substitution G A upstream_gene_variant LUSC-KR 2 9537953 9537953 single base substitution T C intron_variant LUSC-KR 2 9537953 9537953 single base substitution T C upstream_gene_variant LUSC-KR 2 9540392 9540392 single base substitution T C intron_variant LUSC-KR 2 9546301 9546301 single base substitution A C downstream_gene_variant LUSC-KR 2 9546432 9546432 single base substitution G A downstream_gene_variant LUSC-KR 2 9546469 9546469 single base substitution A C downstream_gene_variant LUSC-KR 2 9546544 9546544 single base substitution G A downstream_gene_variant LUSC-KR 2 9546548 9546548 single base substitution G A downstream_gene_variant LUSC-KR 2 9546581 9546581 single base substitution A C downstream_gene_variant LUSC-KR 2 9546583 9546583 single base substitution T G downstream_gene_variant LUSC-KR 2 9546600 9546600 single base substitution G A downstream_gene_variant LUSC-US 2 9474892 9474892 single base substitution G T missense_variant V238L 712G>T LUSC-US 2 9475236 9475236 single base substitution G T missense_variant Q259H 777G>T LUSC-US 2 9490936 9490936 single base substitution G A exon_variant LUSC-US 2 9490936 9490936 single base substitution G A splice_acceptor_variant LUSC-US 2 9508556 9508556 single base substitution C A splice_region_variant LUSC-US 2 9514948 9514948 single base substitution G C missense_variant A541P 1621G>C LUSC-US 2 9528581 9528581 single base substitution C T exon_variant LUSC-US 2 9528581 9528581 single base substitution C T synonymous_variant Y763Y 2289C>T LUSC-US 2 9531254 9531254 single base substitution G C intron_variant LUSC-US 2 9531254 9531254 single base substitution G C missense_variant S816T 2447G>C MALY-DE 2 9348555 9348555 single base substitution T C intron_variant MALY-DE 2 9348587 9348587 single base substitution T C intron_variant MALY-DE 2 9352223 9352223 single base substitution A G intron_variant MALY-DE 2 9354612 9354612 single base substitution G A intron_variant MALY-DE 2 9355998 9355998 single base substitution G A intron_variant MALY-DE 2 9357750 9357750 deletion of <=200bp T - intron_variant MALY-DE 2 9360762 9360762 single base substitution A C intron_variant MALY-DE 2 9366149 9366149 single base substitution G T intron_variant MALY-DE 2 9368106 9368106 single base substitution T C intron_variant MALY-DE 2 9369279 9369279 insertion of <=200bp - C intron_variant MALY-DE 2 9372556 9372556 single base substitution T C intron_variant MALY-DE 2 9379707 9379710 deletion of <=200bp CCAG - intron_variant MALY-DE 2 9380962 9380962 single base substitution C A intron_variant MALY-DE 2 9381036 9381036 single base substitution C T intron_variant MALY-DE 2 9385251 9385251 single base substitution G A intron_variant MALY-DE 2 9392251 9392251 single base substitution T C intron_variant MALY-DE 2 9392759 9392759 single base substitution A G intron_variant MALY-DE 2 9394810 9394816 deletion of <=200bp TAAACTT - intron_variant MALY-DE 2 9400097 9400097 single base substitution C T intron_variant MALY-DE 2 9401480 9401480 single base substitution C A intron_variant MALY-DE 2 9410551 9410551 insertion of <=200bp - T intron_variant MALY-DE 2 9411638 9411638 single base substitution G A intron_variant MALY-DE 2 9419698 9419698 single base substitution G A intron_variant MALY-DE 2 9424470 9424470 single base substitution C G intron_variant MALY-DE 2 9429675 9429675 insertion of <=200bp - A intron_variant MALY-DE 2 9430315 9430315 single base substitution T A intron_variant MALY-DE 2 9438413 9438413 single base substitution T C intron_variant MALY-DE 2 9442852 9442852 single base substitution C A intron_variant MALY-DE 2 9443888 9443888 single base substitution G A intron_variant MALY-DE 2 9444201 9444201 single base substitution A C intron_variant MALY-DE 2 9444493 9444493 single base substitution G C intron_variant MALY-DE 2 9445512 9445512 insertion of <=200bp - A intron_variant MALY-DE 2 9446003 9446006 deletion of <=200bp GTGG - intron_variant MALY-DE 2 9450400 9450400 single base substitution G A intron_variant MALY-DE 2 9455135 9455135 single base substitution G A intron_variant MALY-DE 2 9461344 9461344 deletion of <=200bp A - intron_variant MALY-DE 2 9463958 9463958 single base substitution G A intron_variant MALY-DE 2 9467353 9467353 single base substitution G A intron_variant MALY-DE 2 9470712 9470712 deletion of <=200bp T - intron_variant MALY-DE 2 9472549 9472549 single base substitution A G intron_variant MALY-DE 2 9478477 9478478 deletion of <=200bp TC - intron_variant MALY-DE 2 9479333 9479333 single base substitution C T intron_variant MALY-DE 2 9481306 9481306 single base substitution T C intron_variant MALY-DE 2 9485145 9485145 single base substitution A T intron_variant MALY-DE 2 9485626 9485626 single base substitution C T intron_variant MALY-DE 2 9485626 9485626 single base substitution C T upstream_gene_variant MALY-DE 2 9494293 9494293 deletion of <=200bp A - intron_variant MALY-DE 2 9494608 9494608 single base substitution A C intron_variant MALY-DE 2 9507559 9507559 single base substitution T A intron_variant MALY-DE 2 9511939 9511943 deletion of <=200bp GCCTG - intron_variant MALY-DE 2 9520891 9520891 single base substitution C T missense_variant P657L 1970C>T MALY-DE 2 9527207 9527207 single base substitution T G intron_variant MALY-DE 2 9527207 9527207 single base substitution T G upstream_gene_variant MALY-DE 2 9531962 9531962 single base substitution C A intron_variant MALY-DE 2 9536150 9536150 single base substitution G A intron_variant MALY-DE 2 9536150 9536150 single base substitution G A upstream_gene_variant MALY-DE 2 9537086 9537086 single base substitution A G intron_variant MALY-DE 2 9537086 9537086 single base substitution A G upstream_gene_variant MALY-DE 2 9538508 9538508 single base substitution C T intron_variant MALY-DE 2 9538508 9538508 single base substitution C T upstream_gene_variant MALY-DE 2 9539718 9539718 single base substitution C T exon_variant MALY-DE 2 9539718 9539718 single base substitution C T intron_variant MELA-AU 2 9342194 9342195 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU 2 9342285 9342285 single base substitution C T upstream_gene_variant MELA-AU 2 9342482 9342482 single base substitution C G upstream_gene_variant MELA-AU 2 9342607 9342607 single base substitution A C upstream_gene_variant MELA-AU 2 9342896 9342896 single base substitution A G upstream_gene_variant MELA-AU 2 9343025 9343025 single base substitution C T upstream_gene_variant MELA-AU 2 9343195 9343195 single base substitution C A upstream_gene_variant MELA-AU 2 9343611 9343611 single base substitution G A upstream_gene_variant MELA-AU 2 9343769 9343769 single base substitution G A upstream_gene_variant MELA-AU 2 9343847 9343847 single base substitution T C upstream_gene_variant MELA-AU 2 9343924 9343924 single base substitution G A upstream_gene_variant MELA-AU 2 9344198 9344198 single base substitution A G upstream_gene_variant MELA-AU 2 9344466 9344466 single base substitution A T upstream_gene_variant MELA-AU 2 9346094 9346094 single base substitution C T upstream_gene_variant MELA-AU 2 9346284 9346284 single base substitution G A upstream_gene_variant MELA-AU 2 9346441 9346441 single base substitution C A upstream_gene_variant MELA-AU 2 9348167 9348167 single base substitution C T intron_variant MELA-AU 2 9348337 9348337 single base substitution T G intron_variant MELA-AU 2 9349001 9349001 single base substitution T A intron_variant MELA-AU 2 9350185 9350185 single base substitution C T intron_variant MELA-AU 2 9350782 9350782 single base substitution C T intron_variant MELA-AU 2 9351221 9351221 single base substitution T C intron_variant MELA-AU 2 9352759 9352759 single base substitution C T intron_variant MELA-AU 2 9353807 9353807 single base substitution C T intron_variant MELA-AU 2 9354048 9354048 single base substitution G T intron_variant MELA-AU 2 9354139 9354139 single base substitution C T intron_variant MELA-AU 2 9354320 9354320 single base substitution C T intron_variant MELA-AU 2 9354671 9354671 single base substitution C T intron_variant MELA-AU 2 9355257 9355257 single base substitution C T intron_variant MELA-AU 2 9356231 9356231 single base substitution C T intron_variant MELA-AU 2 9356630 9356630 single base substitution C T intron_variant MELA-AU 2 9356815 9356815 single base substitution C T intron_variant MELA-AU 2 9357477 9357477 single base substitution C G intron_variant MELA-AU 2 9358352 9358352 single base substitution C T intron_variant MELA-AU 2 9358714 9358714 single base substitution A T intron_variant MELA-AU 2 9360857 9360857 single base substitution C T intron_variant MELA-AU 2 9360948 9360948 single base substitution G T intron_variant MELA-AU 2 9360988 9360988 single base substitution A G intron_variant MELA-AU 2 9361716 9361716 single base substitution C T intron_variant MELA-AU 2 9364056 9364056 single base substitution C T intron_variant MELA-AU 2 9364419 9364419 single base substitution C T intron_variant MELA-AU 2 9364895 9364895 single base substitution C T intron_variant MELA-AU 2 9364925 9364925 single base substitution C T intron_variant MELA-AU 2 9365147 9365147 single base substitution T C intron_variant MELA-AU 2 9365921 9365921 single base substitution G A intron_variant MELA-AU 2 9366047 9366047 single base substitution C T intron_variant MELA-AU 2 9367035 9367035 single base substitution C T intron_variant MELA-AU 2 9368281 9368281 single base substitution G A intron_variant MELA-AU 2 9368632 9368632 single base substitution T G intron_variant MELA-AU 2 9368767 9368767 single base substitution T C intron_variant MELA-AU 2 9368952 9368952 single base substitution C T intron_variant MELA-AU 2 9369083 9369083 single base substitution C T intron_variant MELA-AU 2 9369103 9369103 single base substitution T G intron_variant MELA-AU 2 9369133 9369134 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9369529 9369529 single base substitution C T intron_variant MELA-AU 2 9372333 9372333 single base substitution C T intron_variant MELA-AU 2 9372531 9372531 single base substitution C T intron_variant MELA-AU 2 9374406 9374406 single base substitution C T intron_variant MELA-AU 2 9374586 9374586 single base substitution C T intron_variant MELA-AU 2 9374988 9374988 single base substitution G A intron_variant MELA-AU 2 9375574 9375574 single base substitution G A intron_variant MELA-AU 2 9376552 9376552 deletion of <=200bp A - intron_variant MELA-AU 2 9376696 9376696 single base substitution A T intron_variant MELA-AU 2 9377408 9377408 single base substitution C T intron_variant MELA-AU 2 9377921 9377921 single base substitution T A intron_variant MELA-AU 2 9378340 9378340 single base substitution T A intron_variant MELA-AU 2 9379714 9379714 single base substitution C T intron_variant MELA-AU 2 9379781 9379781 single base substitution A T intron_variant MELA-AU 2 9379783 9379783 single base substitution T C intron_variant MELA-AU 2 9380122 9380122 single base substitution C T intron_variant MELA-AU 2 9380478 9380478 single base substitution G A intron_variant MELA-AU 2 9380581 9380581 single base substitution C T intron_variant MELA-AU 2 9380841 9380841 single base substitution C T intron_variant MELA-AU 2 9381278 9381278 single base substitution G A intron_variant MELA-AU 2 9381659 9381659 single base substitution C T intron_variant MELA-AU 2 9381850 9381850 single base substitution G A intron_variant MELA-AU 2 9381872 9381872 single base substitution C T intron_variant MELA-AU 2 9382941 9382941 single base substitution G A intron_variant MELA-AU 2 9384084 9384084 single base substitution C T intron_variant MELA-AU 2 9384684 9384684 single base substitution G A intron_variant MELA-AU 2 9387093 9387093 single base substitution C T intron_variant MELA-AU 2 9387600 9387600 single base substitution C T intron_variant MELA-AU 2 9389120 9389120 single base substitution A G intron_variant MELA-AU 2 9389494 9389494 single base substitution C T intron_variant MELA-AU 2 9389563 9389563 single base substitution C T intron_variant MELA-AU 2 9390147 9390147 single base substitution C T intron_variant MELA-AU 2 9390932 9390932 single base substitution C T intron_variant MELA-AU 2 9390937 9390937 single base substitution G T intron_variant MELA-AU 2 9392314 9392314 single base substitution A G intron_variant MELA-AU 2 9392459 9392459 single base substitution C T intron_variant MELA-AU 2 9392780 9392780 single base substitution C T intron_variant MELA-AU 2 9393713 9393713 single base substitution C T intron_variant MELA-AU 2 9393759 9393759 single base substitution C T intron_variant MELA-AU 2 9393974 9393974 single base substitution C T intron_variant MELA-AU 2 9395126 9395126 single base substitution G C intron_variant MELA-AU 2 9397038 9397038 single base substitution C T intron_variant MELA-AU 2 9397106 9397106 single base substitution C T intron_variant MELA-AU 2 9397107 9397107 single base substitution C T intron_variant MELA-AU 2 9398877 9398877 single base substitution A T intron_variant MELA-AU 2 9399260 9399261 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 9400170 9400170 single base substitution C T intron_variant MELA-AU 2 9400278 9400278 single base substitution T A intron_variant MELA-AU 2 9400933 9400933 single base substitution C T intron_variant MELA-AU 2 9402098 9402098 single base substitution C T intron_variant MELA-AU 2 9402600 9402601 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 9402791 9402791 single base substitution C T intron_variant MELA-AU 2 9404526 9404526 single base substitution C T intron_variant MELA-AU 2 9405479 9405479 single base substitution C T intron_variant MELA-AU 2 9405992 9405992 single base substitution C T intron_variant MELA-AU 2 9406009 9406009 single base substitution C T intron_variant MELA-AU 2 9406241 9406241 single base substitution A T intron_variant MELA-AU 2 9407250 9407250 single base substitution A T intron_variant MELA-AU 2 9407773 9407773 single base substitution C T intron_variant MELA-AU 2 9407824 9407824 single base substitution G A intron_variant MELA-AU 2 9408073 9408073 single base substitution T G intron_variant MELA-AU 2 9408134 9408134 single base substitution C T intron_variant MELA-AU 2 9409475 9409475 single base substitution C T intron_variant MELA-AU 2 9409550 9409550 single base substitution C T intron_variant MELA-AU 2 9409576 9409576 single base substitution C T intron_variant MELA-AU 2 9410176 9410176 single base substitution C T intron_variant MELA-AU 2 9410667 9410667 single base substitution C T intron_variant MELA-AU 2 9410855 9410855 single base substitution C T intron_variant MELA-AU 2 9411251 9411251 single base substitution C T intron_variant MELA-AU 2 9411849 9411849 single base substitution G T intron_variant MELA-AU 2 9412182 9412182 single base substitution C T intron_variant MELA-AU 2 9412261 9412261 single base substitution C T intron_variant MELA-AU 2 9412804 9412804 single base substitution C T intron_variant MELA-AU 2 9412946 9412946 single base substitution C T intron_variant MELA-AU 2 9412947 9412947 single base substitution C T intron_variant MELA-AU 2 9413057 9413057 single base substitution C T intron_variant MELA-AU 2 9413464 9413464 single base substitution T A intron_variant MELA-AU 2 9414641 9414641 single base substitution G A intron_variant MELA-AU 2 9415794 9415794 single base substitution C T intron_variant MELA-AU 2 9416537 9416537 single base substitution G C intron_variant MELA-AU 2 9418456 9418456 single base substitution A G intron_variant MELA-AU 2 9419068 9419068 single base substitution A T intron_variant MELA-AU 2 9419344 9419344 single base substitution G A intron_variant MELA-AU 2 9419720 9419720 single base substitution C T intron_variant MELA-AU 2 9420006 9420006 single base substitution T C intron_variant MELA-AU 2 9420376 9420376 single base substitution C T intron_variant MELA-AU 2 9420483 9420483 single base substitution C T intron_variant MELA-AU 2 9420597 9420597 single base substitution C T intron_variant MELA-AU 2 9421896 9421896 single base substitution C T intron_variant MELA-AU 2 9422394 9422394 single base substitution C T intron_variant MELA-AU 2 9423305 9423305 single base substitution C T intron_variant MELA-AU 2 9423498 9423498 single base substitution T C intron_variant MELA-AU 2 9423606 9423606 single base substitution C T intron_variant MELA-AU 2 9423611 9423611 single base substitution C T intron_variant MELA-AU 2 9423888 9423888 single base substitution C T intron_variant MELA-AU 2 9423910 9423910 single base substitution G A intron_variant MELA-AU 2 9423979 9423979 single base substitution C T intron_variant MELA-AU 2 9424829 9424829 single base substitution G A intron_variant MELA-AU 2 9425347 9425347 single base substitution C T intron_variant MELA-AU 2 9425636 9425636 single base substitution C T intron_variant MELA-AU 2 9425807 9425807 single base substitution T C intron_variant MELA-AU 2 9427121 9427122 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9427222 9427222 single base substitution G A intron_variant MELA-AU 2 9427993 9427993 single base substitution G A intron_variant MELA-AU 2 9428244 9428244 single base substitution C T intron_variant MELA-AU 2 9428401 9428401 single base substitution C T intron_variant MELA-AU 2 9428749 9428749 single base substitution T C intron_variant MELA-AU 2 9430268 9430268 single base substitution C T intron_variant MELA-AU 2 9430300 9430300 single base substitution G A intron_variant MELA-AU 2 9430543 9430543 single base substitution T A intron_variant MELA-AU 2 9431107 9431107 single base substitution C T intron_variant MELA-AU 2 9431560 9431560 single base substitution C T intron_variant MELA-AU 2 9431589 9431589 single base substitution C T intron_variant MELA-AU 2 9432991 9432991 single base substitution G A intron_variant MELA-AU 2 9433882 9433882 single base substitution C T intron_variant MELA-AU 2 9434327 9434327 single base substitution C T intron_variant MELA-AU 2 9434530 9434530 single base substitution G A intron_variant MELA-AU 2 9435411 9435411 single base substitution C T intron_variant MELA-AU 2 9435832 9435832 single base substitution G A intron_variant MELA-AU 2 9435963 9435963 single base substitution C T intron_variant MELA-AU 2 9436093 9436093 single base substitution C T intron_variant MELA-AU 2 9436529 9436529 single base substitution C T intron_variant MELA-AU 2 9437519 9437519 single base substitution C T missense_variant A97V 290C>T MELA-AU 2 9437524 9437524 single base substitution C T synonymous_variant L99L 295C>T MELA-AU 2 9437682 9437682 single base substitution C T intron_variant MELA-AU 2 9438255 9438255 single base substitution G A intron_variant MELA-AU 2 9439163 9439163 single base substitution C T intron_variant MELA-AU 2 9440541 9440541 single base substitution C T intron_variant MELA-AU 2 9440636 9440636 single base substitution C T intron_variant MELA-AU 2 9440776 9440776 single base substitution C T intron_variant MELA-AU 2 9441983 9441983 single base substitution C T intron_variant MELA-AU 2 9442197 9442197 single base substitution C T intron_variant MELA-AU 2 9442248 9442248 single base substitution G C intron_variant MELA-AU 2 9442988 9442988 single base substitution C T intron_variant MELA-AU 2 9443303 9443303 single base substitution T A intron_variant MELA-AU 2 9443362 9443362 single base substitution C T intron_variant MELA-AU 2 9443663 9443663 single base substitution C T intron_variant MELA-AU 2 9444168 9444168 single base substitution C T intron_variant MELA-AU 2 9444354 9444355 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 9445444 9445444 single base substitution G A intron_variant MELA-AU 2 9445638 9445638 single base substitution G A intron_variant MELA-AU 2 9445856 9445856 single base substitution G T intron_variant MELA-AU 2 9445890 9445890 single base substitution G A intron_variant MELA-AU 2 9445899 9445899 single base substitution T G intron_variant MELA-AU 2 9445926 9445926 single base substitution G T intron_variant MELA-AU 2 9448643 9448643 single base substitution C T intron_variant MELA-AU 2 9448882 9448882 single base substitution A T intron_variant MELA-AU 2 9449779 9449779 single base substitution C T intron_variant MELA-AU 2 9450353 9450353 single base substitution C T intron_variant MELA-AU 2 9452280 9452280 single base substitution T C intron_variant MELA-AU 2 9452703 9452703 single base substitution C T intron_variant MELA-AU 2 9454810 9454810 single base substitution C T intron_variant MELA-AU 2 9455541 9455541 single base substitution G A intron_variant MELA-AU 2 9455868 9455868 single base substitution C T intron_variant MELA-AU 2 9456613 9456613 single base substitution C T intron_variant MELA-AU 2 9456943 9456943 single base substitution C T intron_variant MELA-AU 2 9457246 9457246 single base substitution A C intron_variant MELA-AU 2 9457254 9457254 single base substitution C T intron_variant MELA-AU 2 9457573 9457573 single base substitution T A intron_variant MELA-AU 2 9457959 9457959 single base substitution C T intron_variant MELA-AU 2 9458924 9458924 single base substitution C T intron_variant MELA-AU 2 9459585 9459585 single base substitution G A intron_variant MELA-AU 2 9459816 9459816 single base substitution C T intron_variant MELA-AU 2 9460095 9460095 single base substitution G A intron_variant MELA-AU 2 9460651 9460651 single base substitution C T intron_variant MELA-AU 2 9461399 9461400 multiple base substitution (>=2bp and <=200bp) TC GG intron_variant MELA-AU 2 9461415 9461415 single base substitution C T intron_variant MELA-AU 2 9461738 9461738 single base substitution T C intron_variant MELA-AU 2 9461739 9461739 single base substitution C T intron_variant MELA-AU 2 9462011 9462011 single base substitution A C intron_variant MELA-AU 2 9462032 9462032 single base substitution T C intron_variant MELA-AU 2 9462055 9462055 single base substitution C T intron_variant MELA-AU 2 9462226 9462226 single base substitution C T intron_variant MELA-AU 2 9462281 9462281 single base substitution C T intron_variant MELA-AU 2 9462981 9462981 single base substitution C G intron_variant MELA-AU 2 9463086 9463086 single base substitution C T intron_variant MELA-AU 2 9463104 9463104 single base substitution C T intron_variant MELA-AU 2 9463358 9463358 single base substitution C T synonymous_variant F193F 579C>T MELA-AU 2 9463545 9463545 single base substitution C T intron_variant MELA-AU 2 9464295 9464295 single base substitution C T intron_variant MELA-AU 2 9465373 9465373 single base substitution A G intron_variant MELA-AU 2 9466291 9466291 single base substitution C T intron_variant MELA-AU 2 9466772 9466772 single base substitution A T intron_variant MELA-AU 2 9466774 9466774 single base substitution T C intron_variant MELA-AU 2 9466937 9466937 single base substitution A G intron_variant MELA-AU 2 9468772 9468773 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9469674 9469674 single base substitution T G intron_variant MELA-AU 2 9469969 9469969 single base substitution C T intron_variant MELA-AU 2 9470138 9470138 single base substitution G A intron_variant MELA-AU 2 9470478 9470478 single base substitution A T intron_variant MELA-AU 2 9471028 9471028 single base substitution C T intron_variant MELA-AU 2 9471460 9471460 single base substitution C T intron_variant MELA-AU 2 9471533 9471533 single base substitution C T intron_variant MELA-AU 2 9472432 9472433 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9472433 9472433 single base substitution C T intron_variant MELA-AU 2 9472526 9472526 single base substitution C T intron_variant MELA-AU 2 9472740 9472740 single base substitution C T intron_variant MELA-AU 2 9474450 9474450 single base substitution C T intron_variant MELA-AU 2 9474509 9474509 single base substitution T C intron_variant MELA-AU 2 9474825 9474826 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9474912 9474912 single base substitution C T synonymous_variant S244S 732C>T MELA-AU 2 9476427 9476427 single base substitution C T intron_variant MELA-AU 2 9476627 9476627 single base substitution C T intron_variant MELA-AU 2 9477586 9477586 single base substitution C T intron_variant MELA-AU 2 9478113 9478113 single base substitution C T intron_variant MELA-AU 2 9478796 9478796 single base substitution C T intron_variant MELA-AU 2 9479593 9479593 single base substitution C T intron_variant MELA-AU 2 9479809 9479809 single base substitution C T intron_variant MELA-AU 2 9480183 9480183 single base substitution C T intron_variant MELA-AU 2 9480385 9480385 single base substitution C T intron_variant MELA-AU 2 9480543 9480543 single base substitution C T intron_variant MELA-AU 2 9480929 9480929 single base substitution C T intron_variant MELA-AU 2 9482341 9482341 single base substitution C T intron_variant MELA-AU 2 9482914 9482914 single base substitution C T intron_variant MELA-AU 2 9483149 9483149 single base substitution G A intron_variant MELA-AU 2 9483159 9483159 single base substitution C T intron_variant MELA-AU 2 9483440 9483440 single base substitution C T intron_variant MELA-AU 2 9483536 9483536 insertion of <=200bp - TT intron_variant MELA-AU 2 9484409 9484409 single base substitution G A intron_variant MELA-AU 2 9484590 9484590 single base substitution C T intron_variant MELA-AU 2 9484949 9484949 single base substitution C T intron_variant MELA-AU 2 9485432 9485432 single base substitution C T intron_variant MELA-AU 2 9485851 9485851 single base substitution C T intron_variant MELA-AU 2 9485851 9485851 single base substitution C T upstream_gene_variant MELA-AU 2 9485866 9485866 single base substitution C T intron_variant MELA-AU 2 9485866 9485866 single base substitution C T upstream_gene_variant MELA-AU 2 9486026 9486026 single base substitution C T intron_variant MELA-AU 2 9486026 9486026 single base substitution C T upstream_gene_variant MELA-AU 2 9486133 9486133 single base substitution T C intron_variant MELA-AU 2 9486133 9486133 single base substitution T C upstream_gene_variant MELA-AU 2 9486383 9486383 single base substitution C T intron_variant MELA-AU 2 9486383 9486383 single base substitution C T upstream_gene_variant MELA-AU 2 9486749 9486749 single base substitution C T intron_variant MELA-AU 2 9486749 9486749 single base substitution C T upstream_gene_variant MELA-AU 2 9486783 9486783 single base substitution C T intron_variant MELA-AU 2 9486783 9486783 single base substitution C T upstream_gene_variant MELA-AU 2 9486956 9486956 single base substitution C T intron_variant MELA-AU 2 9486956 9486956 single base substitution C T upstream_gene_variant MELA-AU 2 9487210 9487210 single base substitution C T intron_variant MELA-AU 2 9487210 9487210 single base substitution C T upstream_gene_variant MELA-AU 2 9487430 9487430 single base substitution G A intron_variant MELA-AU 2 9487430 9487430 single base substitution G A upstream_gene_variant MELA-AU 2 9487448 9487448 single base substitution A T intron_variant MELA-AU 2 9487448 9487448 single base substitution A T upstream_gene_variant MELA-AU 2 9487798 9487798 single base substitution C G intron_variant MELA-AU 2 9487798 9487798 single base substitution C G upstream_gene_variant MELA-AU 2 9488009 9488009 single base substitution C T intron_variant MELA-AU 2 9488009 9488009 single base substitution C T upstream_gene_variant MELA-AU 2 9488341 9488341 single base substitution G A intron_variant MELA-AU 2 9488341 9488341 single base substitution G A upstream_gene_variant MELA-AU 2 9488389 9488389 single base substitution G A intron_variant MELA-AU 2 9488389 9488389 single base substitution G A upstream_gene_variant MELA-AU 2 9488498 9488498 single base substitution C T intron_variant MELA-AU 2 9488498 9488498 single base substitution C T upstream_gene_variant MELA-AU 2 9489392 9489392 single base substitution C T intron_variant MELA-AU 2 9489392 9489392 single base substitution C T upstream_gene_variant MELA-AU 2 9489431 9489431 single base substitution A G intron_variant MELA-AU 2 9489431 9489431 single base substitution A G upstream_gene_variant MELA-AU 2 9489759 9489759 single base substitution G A intron_variant MELA-AU 2 9489759 9489759 single base substitution G A upstream_gene_variant MELA-AU 2 9489885 9489885 single base substitution C T intron_variant MELA-AU 2 9489885 9489885 single base substitution C T upstream_gene_variant MELA-AU 2 9490100 9490100 single base substitution C T intron_variant MELA-AU 2 9490100 9490100 single base substitution C T upstream_gene_variant MELA-AU 2 9490559 9490559 single base substitution C T intron_variant MELA-AU 2 9490559 9490559 single base substitution C T upstream_gene_variant MELA-AU 2 9490963 9490963 single base substitution C T exon_variant MELA-AU 2 9490963 9490963 single base substitution C T synonymous_variant N350N 1050C>T MELA-AU 2 9490971 9490971 single base substitution C T exon_variant MELA-AU 2 9490971 9490971 single base substitution C T missense_variant T353I 1058C>T MELA-AU 2 9491022 9491022 single base substitution C T missense_variant S370L 1109C>T MELA-AU 2 9491022 9491022 single base substitution C T splice_region_variant MELA-AU 2 9491433 9491433 single base substitution C T intron_variant MELA-AU 2 9491516 9491516 single base substitution C T intron_variant MELA-AU 2 9492363 9492363 single base substitution C A intron_variant MELA-AU 2 9494266 9494266 single base substitution C T intron_variant MELA-AU 2 9495015 9495015 single base substitution C T intron_variant MELA-AU 2 9495159 9495159 single base substitution C T intron_variant MELA-AU 2 9495181 9495181 single base substitution C T intron_variant MELA-AU 2 9496066 9496066 single base substitution C T intron_variant MELA-AU 2 9496593 9496593 single base substitution C T downstream_gene_variant MELA-AU 2 9496593 9496593 single base substitution C T intron_variant MELA-AU 2 9496703 9496703 single base substitution G A downstream_gene_variant MELA-AU 2 9496703 9496703 single base substitution G A intron_variant MELA-AU 2 9496842 9496842 single base substitution C T downstream_gene_variant MELA-AU 2 9496842 9496842 single base substitution C T intron_variant MELA-AU 2 9498189 9498189 single base substitution C G downstream_gene_variant MELA-AU 2 9498189 9498189 single base substitution C G intron_variant MELA-AU 2 9498203 9498203 single base substitution C T downstream_gene_variant MELA-AU 2 9498203 9498203 single base substitution C T intron_variant MELA-AU 2 9498591 9498591 single base substitution G A downstream_gene_variant MELA-AU 2 9498591 9498591 single base substitution G A intron_variant MELA-AU 2 9498755 9498755 single base substitution C T downstream_gene_variant MELA-AU 2 9498755 9498755 single base substitution C T intron_variant MELA-AU 2 9499308 9499308 single base substitution C T downstream_gene_variant MELA-AU 2 9499308 9499308 single base substitution C T intron_variant MELA-AU 2 9501510 9501510 single base substitution C T intron_variant MELA-AU 2 9501692 9501692 single base substitution C T intron_variant MELA-AU 2 9501700 9501700 single base substitution T A intron_variant MELA-AU 2 9502064 9502064 single base substitution C T intron_variant MELA-AU 2 9503047 9503047 single base substitution A T intron_variant MELA-AU 2 9503720 9503720 single base substitution T A intron_variant MELA-AU 2 9503770 9503770 deletion of <=200bp T - intron_variant MELA-AU 2 9503811 9503811 single base substitution C T intron_variant MELA-AU 2 9504689 9504689 single base substitution A G intron_variant MELA-AU 2 9504934 9504934 single base substitution T C intron_variant MELA-AU 2 9505105 9505106 multiple base substitution (>=2bp and <=200bp) TT GC intron_variant MELA-AU 2 9505178 9505178 single base substitution C T intron_variant MELA-AU 2 9505888 9505888 single base substitution C T intron_variant MELA-AU 2 9506062 9506062 single base substitution C T intron_variant MELA-AU 2 9506377 9506377 single base substitution C A intron_variant MELA-AU 2 9506767 9506767 single base substitution G C intron_variant MELA-AU 2 9506983 9506983 single base substitution C T intron_variant MELA-AU 2 9507700 9507700 single base substitution G A intron_variant MELA-AU 2 9508889 9508889 single base substitution G A intron_variant MELA-AU 2 9509058 9509058 single base substitution C A intron_variant MELA-AU 2 9509436 9509436 single base substitution C T intron_variant MELA-AU 2 9509597 9509597 single base substitution C T intron_variant MELA-AU 2 9509800 9509800 single base substitution T G intron_variant MELA-AU 2 9510281 9510281 single base substitution C T intron_variant MELA-AU 2 9510661 9510661 single base substitution T C intron_variant MELA-AU 2 9511302 9511302 single base substitution C T intron_variant MELA-AU 2 9511310 9511310 single base substitution C T intron_variant MELA-AU 2 9511423 9511423 single base substitution G T intron_variant MELA-AU 2 9511427 9511427 single base substitution C T intron_variant MELA-AU 2 9511731 9511731 single base substitution G A intron_variant MELA-AU 2 9512171 9512171 single base substitution C T intron_variant MELA-AU 2 9512399 9512399 single base substitution G A intron_variant MELA-AU 2 9512429 9512429 single base substitution G A intron_variant MELA-AU 2 9512515 9512515 single base substitution C T intron_variant MELA-AU 2 9512908 9512908 single base substitution C T intron_variant MELA-AU 2 9513387 9513387 single base substitution C T intron_variant MELA-AU 2 9513449 9513449 single base substitution C T intron_variant MELA-AU 2 9513659 9513659 single base substitution C T intron_variant MELA-AU 2 9513708 9513708 single base substitution T C intron_variant MELA-AU 2 9515432 9515432 single base substitution G A intron_variant MELA-AU 2 9515975 9515975 single base substitution G A intron_variant MELA-AU 2 9516032 9516032 single base substitution C T intron_variant MELA-AU 2 9516044 9516044 single base substitution G C intron_variant MELA-AU 2 9517082 9517082 single base substitution C T stop_gained R598* 1792C>T MELA-AU 2 9517283 9517284 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9517653 9517653 single base substitution C T intron_variant MELA-AU 2 9517807 9517807 single base substitution A T intron_variant MELA-AU 2 9518164 9518164 single base substitution C T intron_variant MELA-AU 2 9518187 9518187 single base substitution T G intron_variant MELA-AU 2 9518207 9518207 single base substitution G A intron_variant MELA-AU 2 9518216 9518216 single base substitution C A intron_variant MELA-AU 2 9518244 9518244 single base substitution G A intron_variant MELA-AU 2 9519013 9519013 single base substitution G A intron_variant MELA-AU 2 9520231 9520231 single base substitution C T intron_variant MELA-AU 2 9520750 9520750 single base substitution C T intron_variant MELA-AU 2 9520891 9520891 single base substitution C T missense_variant P657L 1970C>T MELA-AU 2 9521305 9521305 single base substitution C T intron_variant MELA-AU 2 9521435 9521435 single base substitution C T intron_variant MELA-AU 2 9521866 9521866 single base substitution C T intron_variant MELA-AU 2 9522203 9522203 single base substitution C T intron_variant MELA-AU 2 9522354 9522354 single base substitution C T intron_variant MELA-AU 2 9522556 9522556 single base substitution C T intron_variant MELA-AU 2 9522793 9522793 single base substitution C T intron_variant MELA-AU 2 9523490 9523490 single base substitution C T intron_variant MELA-AU 2 9523490 9523490 single base substitution C T upstream_gene_variant MELA-AU 2 9523506 9523507 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9523506 9523507 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 9523585 9523585 single base substitution C T intron_variant MELA-AU 2 9523585 9523585 single base substitution C T upstream_gene_variant MELA-AU 2 9524391 9524391 single base substitution C T intron_variant MELA-AU 2 9524391 9524391 single base substitution C T upstream_gene_variant MELA-AU 2 9524598 9524598 single base substitution C T intron_variant MELA-AU 2 9524598 9524598 single base substitution C T upstream_gene_variant MELA-AU 2 9524850 9524850 single base substitution C T intron_variant MELA-AU 2 9524850 9524850 single base substitution C T upstream_gene_variant MELA-AU 2 9525273 9525273 single base substitution C T intron_variant MELA-AU 2 9525273 9525273 single base substitution C T upstream_gene_variant MELA-AU 2 9525385 9525385 single base substitution C T synonymous_variant A676A 2028C>T MELA-AU 2 9525385 9525385 single base substitution C T upstream_gene_variant MELA-AU 2 9525546 9525546 single base substitution G A intron_variant MELA-AU 2 9525546 9525546 single base substitution G A upstream_gene_variant MELA-AU 2 9525658 9525658 single base substitution C A intron_variant MELA-AU 2 9525658 9525658 single base substitution C A upstream_gene_variant MELA-AU 2 9526345 9526345 single base substitution C T intron_variant MELA-AU 2 9526345 9526345 single base substitution C T upstream_gene_variant MELA-AU 2 9526378 9526378 single base substitution T C intron_variant MELA-AU 2 9526378 9526378 single base substitution T C upstream_gene_variant MELA-AU 2 9526518 9526518 single base substitution A C intron_variant MELA-AU 2 9526518 9526518 single base substitution A C upstream_gene_variant MELA-AU 2 9526703 9526703 single base substitution C T intron_variant MELA-AU 2 9526703 9526703 single base substitution C T upstream_gene_variant MELA-AU 2 9527354 9527354 single base substitution A C intron_variant MELA-AU 2 9527354 9527354 single base substitution A C upstream_gene_variant MELA-AU 2 9527843 9527843 single base substitution C T intron_variant MELA-AU 2 9527843 9527843 single base substitution C T upstream_gene_variant MELA-AU 2 9528139 9528140 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 9528139 9528140 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 9529024 9529024 single base substitution C T intron_variant MELA-AU 2 9529459 9529459 single base substitution G C intron_variant MELA-AU 2 9530111 9530111 single base substitution C T intron_variant MELA-AU 2 9530273 9530273 single base substitution C T intron_variant MELA-AU 2 9530466 9530466 single base substitution C T intron_variant MELA-AU 2 9530717 9530717 single base substitution C T intron_variant MELA-AU 2 9530867 9530867 single base substitution T A intron_variant MELA-AU 2 9531269 9531269 single base substitution C A intron_variant MELA-AU 2 9531269 9531269 single base substitution C A stop_gained S821* 2462C>A MELA-AU 2 9532204 9532204 single base substitution G A intron_variant MELA-AU 2 9532461 9532461 single base substitution G A intron_variant MELA-AU 2 9533054 9533054 single base substitution C G intron_variant MELA-AU 2 9533413 9533413 single base substitution C T intron_variant MELA-AU 2 9533837 9533837 single base substitution G T intron_variant MELA-AU 2 9534784 9534784 single base substitution C T intron_variant MELA-AU 2 9534784 9534784 single base substitution C T upstream_gene_variant MELA-AU 2 9535454 9535454 single base substitution A C intron_variant MELA-AU 2 9535454 9535454 single base substitution A C upstream_gene_variant MELA-AU 2 9536702 9536702 single base substitution C T intron_variant MELA-AU 2 9536702 9536702 single base substitution C T upstream_gene_variant MELA-AU 2 9536732 9536732 single base substitution C T intron_variant MELA-AU 2 9536732 9536732 single base substitution C T upstream_gene_variant MELA-AU 2 9537220 9537220 single base substitution T C intron_variant MELA-AU 2 9537220 9537220 single base substitution T C upstream_gene_variant MELA-AU 2 9537507 9537507 single base substitution C T intron_variant MELA-AU 2 9537507 9537507 single base substitution C T upstream_gene_variant MELA-AU 2 9537673 9537673 single base substitution C T intron_variant MELA-AU 2 9537673 9537673 single base substitution C T upstream_gene_variant MELA-AU 2 9537768 9537768 single base substitution C A intron_variant MELA-AU 2 9537768 9537768 single base substitution C A upstream_gene_variant MELA-AU 2 9537838 9537838 single base substitution G A intron_variant MELA-AU 2 9537838 9537838 single base substitution G A upstream_gene_variant MELA-AU 2 9538992 9538992 single base substitution A C exon_variant MELA-AU 2 9538992 9538992 single base substitution A C intron_variant MELA-AU 2 9540656 9540656 single base substitution C T intron_variant MELA-AU 2 9542007 9542008 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 9542007 9542008 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 9542724 9542724 single base substitution G A downstream_gene_variant MELA-AU 2 9542724 9542724 single base substitution G A intron_variant MELA-AU 2 9543686 9543686 single base substitution C T 3_prime_UTR_variant MELA-AU 2 9543686 9543686 single base substitution C T downstream_gene_variant MELA-AU 2 9543686 9543686 single base substitution C T exon_variant MELA-AU 2 9544338 9544368 deletion of <=200bp CTACTGAGTGTACCACTGCCTTCCCTTCTAG - 3_prime_UTR_variant MELA-AU 2 9544338 9544368 deletion of <=200bp CTACTGAGTGTACCACTGCCTTCCCTTCTAG - downstream_gene_variant MELA-AU 2 9544338 9544368 deletion of <=200bp CTACTGAGTGTACCACTGCCTTCCCTTCTAG - exon_variant MELA-AU 2 9544705 9544705 single base substitution G A 3_prime_UTR_variant MELA-AU 2 9544705 9544705 single base substitution G A downstream_gene_variant MELA-AU 2 9544705 9544705 single base substitution G A exon_variant MELA-AU 2 9545153 9545153 single base substitution A T 3_prime_UTR_variant MELA-AU 2 9545153 9545153 single base substitution A T downstream_gene_variant MELA-AU 2 9545153 9545153 single base substitution A T exon_variant MELA-AU 2 9545557 9545557 single base substitution G A 3_prime_UTR_variant MELA-AU 2 9545557 9545557 single base substitution G A downstream_gene_variant MELA-AU 2 9545557 9545557 single base substitution G A exon_variant MELA-AU 2 9545644 9545644 single base substitution C G 3_prime_UTR_variant MELA-AU 2 9545644 9545644 single base substitution C G downstream_gene_variant MELA-AU 2 9545644 9545644 single base substitution C G exon_variant MELA-AU 2 9546245 9546245 single base substitution C A downstream_gene_variant MELA-AU 2 9547255 9547255 single base substitution A G downstream_gene_variant MELA-AU 2 9547257 9547257 single base substitution G A downstream_gene_variant MELA-AU 2 9547488 9547488 single base substitution T G downstream_gene_variant MELA-AU 2 9547500 9547500 single base substitution C T downstream_gene_variant MELA-AU 2 9549017 9549017 single base substitution C T downstream_gene_variant MELA-AU 2 9549146 9549146 single base substitution G C downstream_gene_variant MELA-AU 2 9549382 9549382 single base substitution G A downstream_gene_variant MELA-AU 2 9549885 9549885 single base substitution G A downstream_gene_variant ORCA-IN 2 9356504 9356504 single base substitution C A intron_variant ORCA-IN 2 9360488 9360488 single base substitution C T intron_variant ORCA-IN 2 9361452 9361452 deletion of <=200bp C - intron_variant ORCA-IN 2 9378615 9378615 single base substitution C T intron_variant ORCA-IN 2 9398463 9398464 deletion of <=200bp TG - intron_variant ORCA-IN 2 9405010 9405010 single base substitution C T intron_variant ORCA-IN 2 9445431 9445431 single base substitution G A intron_variant ORCA-IN 2 9473061 9473061 single base substitution G A intron_variant ORCA-IN 2 9502104 9502115 deletion of <=200bp GTGTGTGTGTGT - intron_variant ORCA-IN 2 9520132 9520133 deletion of <=200bp AT - intron_variant ORCA-IN 2 9525494 9525494 single base substitution G A splice_region_variant ORCA-IN 2 9525494 9525494 single base substitution G A upstream_gene_variant ORCA-IN 2 9527369 9527369 single base substitution C T intron_variant ORCA-IN 2 9527369 9527369 single base substitution C T upstream_gene_variant OV-AU 2 9347524 9347524 single base substitution C T intron_variant OV-AU 2 9350939 9350939 single base substitution C A intron_variant OV-AU 2 9350967 9350967 single base substitution G T intron_variant OV-AU 2 9359683 9359683 single base substitution G C intron_variant OV-AU 2 9360116 9360116 single base substitution A G intron_variant OV-AU 2 9371989 9371989 single base substitution G A intron_variant OV-AU 2 9375123 9375123 single base substitution G A intron_variant OV-AU 2 9377145 9377145 single base substitution T G intron_variant OV-AU 2 9383965 9383965 single base substitution G T intron_variant OV-AU 2 9385218 9385218 single base substitution C G intron_variant OV-AU 2 9393518 9393518 single base substitution C G intron_variant OV-AU 2 9402499 9402499 single base substitution G T intron_variant OV-AU 2 9409100 9409100 single base substitution C G intron_variant OV-AU 2 9410583 9410583 single base substitution G A intron_variant OV-AU 2 9418510 9418510 single base substitution C T intron_variant OV-AU 2 9421934 9421934 single base substitution T A intron_variant OV-AU 2 9427238 9427238 single base substitution C T intron_variant OV-AU 2 9453687 9453687 single base substitution C T intron_variant OV-AU 2 9456418 9456418 single base substitution T G intron_variant OV-AU 2 9457255 9457255 single base substitution A T intron_variant OV-AU 2 9457260 9457260 single base substitution A T intron_variant OV-AU 2 9457288 9457288 single base substitution T A intron_variant OV-AU 2 9457389 9457389 single base substitution C T intron_variant OV-AU 2 9458256 9458256 single base substitution A G intron_variant OV-AU 2 9458941 9458941 single base substitution C G intron_variant OV-AU 2 9460749 9460749 single base substitution G T intron_variant OV-AU 2 9469721 9469721 single base substitution A G intron_variant OV-AU 2 9472586 9472586 single base substitution T C intron_variant OV-AU 2 9489595 9489595 single base substitution T C intron_variant OV-AU 2 9489595 9489595 single base substitution T C upstream_gene_variant OV-AU 2 9491909 9491909 single base substitution T G intron_variant OV-AU 2 9494065 9494065 single base substitution C G intron_variant OV-AU 2 9499429 9499429 single base substitution G A downstream_gene_variant OV-AU 2 9499429 9499429 single base substitution G A intron_variant OV-AU 2 9503745 9503745 single base substitution C T intron_variant OV-AU 2 9511481 9511481 single base substitution T C intron_variant OV-AU 2 9520705 9520705 single base substitution A T intron_variant OV-AU 2 9524043 9524043 single base substitution C G intron_variant OV-AU 2 9524043 9524043 single base substitution C G upstream_gene_variant OV-AU 2 9533263 9533263 single base substitution G A intron_variant OV-AU 2 9535184 9535184 single base substitution T G intron_variant OV-AU 2 9535184 9535184 single base substitution T G upstream_gene_variant OV-AU 2 9538498 9538498 single base substitution A G intron_variant OV-AU 2 9538498 9538498 single base substitution A G upstream_gene_variant OV-AU 2 9543469 9543469 single base substitution C G 3_prime_UTR_variant OV-AU 2 9543469 9543469 single base substitution C G downstream_gene_variant OV-AU 2 9543469 9543469 single base substitution C G exon_variant OV-AU 2 9544284 9544284 single base substitution C G 3_prime_UTR_variant OV-AU 2 9544284 9544284 single base substitution C G downstream_gene_variant OV-AU 2 9544284 9544284 single base substitution C G exon_variant OV-AU 2 9545489 9545489 single base substitution T G 3_prime_UTR_variant OV-AU 2 9545489 9545489 single base substitution T G downstream_gene_variant OV-AU 2 9545489 9545489 single base substitution T G exon_variant OV-AU 2 9545806 9545806 single base substitution G A 3_prime_UTR_variant OV-AU 2 9545806 9545806 single base substitution G A downstream_gene_variant OV-AU 2 9545806 9545806 single base substitution G A exon_variant OV-AU 2 9545935 9545935 single base substitution G A downstream_gene_variant PACA-AU 2 9343340 9343340 single base substitution C A upstream_gene_variant PACA-AU 2 9343696 9343696 single base substitution C T upstream_gene_variant PACA-AU 2 9347591 9347591 single base substitution C G intron_variant PACA-AU 2 9365891 9365891 single base substitution G A intron_variant PACA-AU 2 9382623 9382623 single base substitution C G intron_variant PACA-AU 2 9392134 9392134 single base substitution G T intron_variant PACA-AU 2 9393298 9393303 deletion of <=200bp TGTTTC - intron_variant PACA-AU 2 9396316 9396316 single base substitution C T intron_variant PACA-AU 2 9398757 9398757 single base substitution C T intron_variant PACA-AU 2 9399755 9399755 single base substitution T G intron_variant PACA-AU 2 9408324 9408324 single base substitution C T intron_variant PACA-AU 2 9409498 9409498 single base substitution C T intron_variant PACA-AU 2 9410919 9410919 single base substitution T A intron_variant PACA-AU 2 9411306 9411306 single base substitution G A intron_variant PACA-AU 2 9413043 9413043 deletion of <=200bp T - intron_variant PACA-AU 2 9415357 9415357 single base substitution C T intron_variant PACA-AU 2 9430323 9430323 insertion of <=200bp - TTAT intron_variant PACA-AU 2 9450640 9450640 single base substitution T C intron_variant PACA-AU 2 9452108 9452116 deletion of <=200bp ATTCTATTT - intron_variant PACA-AU 2 9458645 9458645 insertion of <=200bp - T splice_region_variant PACA-AU 2 9458920 9458920 single base substitution C T intron_variant PACA-AU 2 9465074 9465075 deletion of <=200bp TC - intron_variant PACA-AU 2 9467364 9467364 single base substitution G A intron_variant PACA-AU 2 9468443 9468443 deletion of <=200bp A - intron_variant PACA-AU 2 9474980 9474980 single base substitution T A intron_variant PACA-AU 2 9481227 9481227 single base substitution G A intron_variant PACA-AU 2 9483742 9483742 single base substitution A C intron_variant PACA-AU 2 9484347 9484347 single base substitution G T intron_variant PACA-AU 2 9490998 9491000 deletion of <=200bp AGA - exon_variant PACA-AU 2 9490998 9491000 deletion of <=200bp AGA - inframe_deletion EK362E PACA-AU 2 9494954 9494954 single base substitution C T intron_variant PACA-AU 2 9497629 9497629 single base substitution G A downstream_gene_variant PACA-AU 2 9497629 9497629 single base substitution G A intron_variant PACA-AU 2 9505235 9505235 single base substitution T G intron_variant PACA-AU 2 9508070 9508070 single base substitution T G intron_variant PACA-AU 2 9513262 9513262 single base substitution C T intron_variant PACA-AU 2 9514769 9514769 single base substitution G T intron_variant PACA-AU 2 9515329 9515329 single base substitution T C intron_variant PACA-AU 2 9517703 9517703 single base substitution C T intron_variant PACA-AU 2 9520134 9520134 deletion of <=200bp A - intron_variant PACA-AU 2 9520135 9520135 single base substitution A T intron_variant PACA-AU 2 9520546 9520546 single base substitution C G intron_variant PACA-AU 2 9521997 9521997 single base substitution C T intron_variant PACA-AU 2 9523438 9523438 single base substitution G T intron_variant PACA-AU 2 9523438 9523438 single base substitution G T upstream_gene_variant PACA-AU 2 9523439 9523439 single base substitution G T intron_variant PACA-AU 2 9523439 9523439 single base substitution G T upstream_gene_variant PACA-AU 2 9524296 9524299 deletion of <=200bp AAAT - intron_variant PACA-AU 2 9524296 9524299 deletion of <=200bp AAAT - upstream_gene_variant PACA-AU 2 9524300 9524300 single base substitution A T intron_variant PACA-AU 2 9524300 9524300 single base substitution A T upstream_gene_variant PACA-AU 2 9526709 9526709 single base substitution C T intron_variant PACA-AU 2 9526709 9526709 single base substitution C T upstream_gene_variant PACA-AU 2 9527442 9527442 single base substitution G A intron_variant PACA-AU 2 9527442 9527442 single base substitution G A upstream_gene_variant PACA-AU 2 9529716 9529716 single base substitution C T intron_variant PACA-AU 2 9531246 9531246 single base substitution C T intron_variant PACA-AU 2 9531246 9531246 single base substitution C T synonymous_variant D813D 2439C>T PACA-AU 2 9532593 9532593 deletion of <=200bp T - intron_variant PACA-AU 2 9532668 9532668 single base substitution A G intron_variant PACA-AU 2 9536769 9536769 single base substitution A G intron_variant PACA-AU 2 9536769 9536769 single base substitution A G upstream_gene_variant PACA-AU 2 9541866 9541866 single base substitution C G downstream_gene_variant PACA-AU 2 9541866 9541866 single base substitution C G intron_variant PACA-AU 2 9545422 9545422 single base substitution G T 3_prime_UTR_variant PACA-AU 2 9545422 9545422 single base substitution G T downstream_gene_variant PACA-AU 2 9545422 9545422 single base substitution G T exon_variant PACA-AU 2 9545755 9545755 single base substitution C T 3_prime_UTR_variant PACA-AU 2 9545755 9545755 single base substitution C T downstream_gene_variant PACA-AU 2 9545755 9545755 single base substitution C T exon_variant PACA-CA 2 9342885 9342885 single base substitution T C upstream_gene_variant PACA-CA 2 9343490 9343490 single base substitution G A upstream_gene_variant PACA-CA 2 9343586 9343586 single base substitution C T upstream_gene_variant PACA-CA 2 9344467 9344467 single base substitution A T upstream_gene_variant PACA-CA 2 9347938 9347938 single base substitution G A intron_variant PACA-CA 2 9352341 9352341 single base substitution C T intron_variant PACA-CA 2 9353589 9353589 single base substitution G A intron_variant PACA-CA 2 9360611 9360611 single base substitution G T intron_variant PACA-CA 2 9363001 9363001 single base substitution G T intron_variant PACA-CA 2 9374627 9374627 single base substitution G A intron_variant PACA-CA 2 9378747 9378747 single base substitution G A intron_variant PACA-CA 2 9382645 9382645 single base substitution G A intron_variant PACA-CA 2 9384339 9384339 single base substitution C A intron_variant PACA-CA 2 9389824 9389824 single base substitution G A intron_variant PACA-CA 2 9392370 9392370 single base substitution T C intron_variant PACA-CA 2 9392715 9392715 insertion of <=200bp - C intron_variant PACA-CA 2 9397480 9397480 single base substitution C T intron_variant PACA-CA 2 9400242 9400242 single base substitution A T intron_variant PACA-CA 2 9415362 9415362 single base substitution C T intron_variant PACA-CA 2 9417835 9417835 single base substitution G A intron_variant PACA-CA 2 9425520 9425520 single base substitution C T intron_variant PACA-CA 2 9427244 9427244 single base substitution G T intron_variant PACA-CA 2 9428333 9428333 deletion of <=200bp A - intron_variant PACA-CA 2 9428659 9428659 single base substitution T C intron_variant PACA-CA 2 9432184 9432184 single base substitution G T intron_variant PACA-CA 2 9435944 9435944 single base substitution C A intron_variant PACA-CA 2 9436843 9436843 single base substitution C G intron_variant PACA-CA 2 9439151 9439151 single base substitution G A intron_variant PACA-CA 2 9439501 9439501 single base substitution A G intron_variant PACA-CA 2 9441606 9441606 single base substitution A G intron_variant PACA-CA 2 9445530 9445530 single base substitution A G intron_variant PACA-CA 2 9446366 9446366 single base substitution G A intron_variant PACA-CA 2 9449214 9449214 single base substitution C T intron_variant PACA-CA 2 9454270 9454270 single base substitution G A intron_variant PACA-CA 2 9454828 9454828 single base substitution C T intron_variant PACA-CA 2 9466660 9466660 single base substitution T C intron_variant PACA-CA 2 9466776 9466776 deletion of <=200bp A - intron_variant PACA-CA 2 9467575 9467575 single base substitution A T intron_variant PACA-CA 2 9467888 9467888 single base substitution C A intron_variant PACA-CA 2 9481638 9481638 single base substitution G A intron_variant PACA-CA 2 9483696 9483696 single base substitution C T intron_variant PACA-CA 2 9483928 9483928 single base substitution G C intron_variant PACA-CA 2 9484673 9484673 single base substitution C T missense_variant R288C 862C>T PACA-CA 2 9484712 9484712 single base substitution A G missense_variant N301D 901A>G PACA-CA 2 9485563 9485563 single base substitution C T intron_variant PACA-CA 2 9488290 9488290 single base substitution T C intron_variant PACA-CA 2 9488290 9488290 single base substitution T C upstream_gene_variant PACA-CA 2 9491207 9491207 single base substitution G C intron_variant PACA-CA 2 9491260 9491260 single base substitution G C intron_variant PACA-CA 2 9491351 9491351 single base substitution G C intron_variant PACA-CA 2 9491446 9491446 single base substitution G C intron_variant PACA-CA 2 9491538 9491538 single base substitution G C intron_variant PACA-CA 2 9491746 9491746 single base substitution G A intron_variant PACA-CA 2 9491938 9491938 single base substitution G A intron_variant PACA-CA 2 9491996 9491996 single base substitution G A intron_variant PACA-CA 2 9496549 9496549 single base substitution T G downstream_gene_variant PACA-CA 2 9496549 9496549 single base substitution T G intron_variant PACA-CA 2 9497178 9497178 single base substitution T C downstream_gene_variant PACA-CA 2 9497178 9497178 single base substitution T C intron_variant PACA-CA 2 9497841 9497841 single base substitution C T downstream_gene_variant PACA-CA 2 9497841 9497841 single base substitution C T intron_variant PACA-CA 2 9503253 9503253 single base substitution G C intron_variant PACA-CA 2 9508022 9508022 single base substitution C T intron_variant PACA-CA 2 9508824 9508824 deletion of <=200bp T - intron_variant PACA-CA 2 9509417 9509417 single base substitution G A intron_variant PACA-CA 2 9514059 9514059 single base substitution C T intron_variant PACA-CA 2 9514872 9514872 single base substitution G A intron_variant PACA-CA 2 9514931 9514931 single base substitution A G missense_variant Y535C 1604A>G PACA-CA 2 9521838 9521838 single base substitution C T intron_variant PACA-CA 2 9525454 9525454 single base substitution T A missense_variant D699E 2097T>A PACA-CA 2 9525454 9525454 single base substitution T A upstream_gene_variant PACA-CA 2 9527552 9527552 deletion of <=200bp A - intron_variant PACA-CA 2 9527552 9527552 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 9532617 9532617 single base substitution G A intron_variant PACA-CA 2 9532659 9532659 single base substitution G A intron_variant PACA-CA 2 9535440 9535440 single base substitution A G intron_variant PACA-CA 2 9535440 9535440 single base substitution A G upstream_gene_variant PACA-CA 2 9536040 9536040 single base substitution C G intron_variant PACA-CA 2 9536040 9536040 single base substitution C G upstream_gene_variant PACA-CA 2 9536293 9536293 single base substitution C A intron_variant PACA-CA 2 9536293 9536293 single base substitution C A upstream_gene_variant PACA-CA 2 9545025 9545025 single base substitution A T 3_prime_UTR_variant PACA-CA 2 9545025 9545025 single base substitution A T downstream_gene_variant PACA-CA 2 9545025 9545025 single base substitution A T exon_variant PACA-CA 2 9548302 9548302 single base substitution C A downstream_gene_variant PAEN-AU 2 9423948 9423948 single base substitution C T intron_variant PAEN-AU 2 9444294 9444294 single base substitution G T intron_variant PAEN-AU 2 9457288 9457288 single base substitution T A intron_variant PAEN-AU 2 9503043 9503043 single base substitution C A intron_variant PAEN-AU 2 9515440 9515440 single base substitution G T intron_variant PAEN-AU 2 9517599 9517599 single base substitution A G intron_variant PAEN-IT 2 9364892 9364892 single base substitution A G intron_variant PAEN-IT 2 9441654 9441654 single base substitution G T intron_variant PAEN-IT 2 9547677 9547677 single base substitution G C downstream_gene_variant PBCA-DE 2 9350556 9350556 single base substitution T G intron_variant PBCA-DE 2 9355712 9355712 deletion of <=200bp T - intron_variant PBCA-DE 2 9366701 9366701 single base substitution G A intron_variant PBCA-DE 2 9368058 9368058 single base substitution A T intron_variant PBCA-DE 2 9369279 9369279 insertion of <=200bp - C intron_variant PBCA-DE 2 9372239 9372239 single base substitution C A intron_variant PBCA-DE 2 9372927 9372927 single base substitution C G intron_variant PBCA-DE 2 9374123 9374123 single base substitution C G intron_variant PBCA-DE 2 9384563 9384563 single base substitution G T intron_variant PBCA-DE 2 9388503 9388503 deletion of <=200bp T - intron_variant PBCA-DE 2 9393021 9393021 single base substitution G A intron_variant PBCA-DE 2 9396521 9396521 single base substitution G A intron_variant PBCA-DE 2 9399522 9399522 single base substitution G A intron_variant PBCA-DE 2 9402141 9402141 single base substitution T C intron_variant PBCA-DE 2 9405841 9405842 deletion of <=200bp TG - intron_variant PBCA-DE 2 9413374 9413374 single base substitution G C intron_variant PBCA-DE 2 9417223 9417223 deletion of <=200bp C - intron_variant PBCA-DE 2 9418299 9418299 single base substitution G A intron_variant PBCA-DE 2 9418925 9418925 single base substitution G A intron_variant PBCA-DE 2 9440999 9440999 single base substitution C G intron_variant PBCA-DE 2 9445158 9445158 insertion of <=200bp - TG intron_variant PBCA-DE 2 9445163 9445164 deletion of <=200bp TA - intron_variant PBCA-DE 2 9445178 9445178 insertion of <=200bp - A intron_variant PBCA-DE 2 9445218 9445218 insertion of <=200bp - G intron_variant PBCA-DE 2 9445658 9445658 single base substitution G A intron_variant PBCA-DE 2 9445677 9445677 single base substitution C T intron_variant PBCA-DE 2 9454578 9454578 single base substitution G A intron_variant PBCA-DE 2 9478477 9478478 deletion of <=200bp TC - intron_variant PBCA-DE 2 9485498 9485498 single base substitution C T intron_variant PBCA-DE 2 9495048 9495048 single base substitution G C intron_variant PBCA-DE 2 9542486 9542486 single base substitution C T downstream_gene_variant PBCA-DE 2 9542486 9542486 single base substitution C T intron_variant PBCA-DE 2 9547519 9547519 single base substitution T C downstream_gene_variant PBCA-DE 2 9550008 9550008 deletion of <=200bp T - downstream_gene_variant PRAD-CA 2 9344466 9344466 single base substitution A T upstream_gene_variant PRAD-CA 2 9349352 9349352 single base substitution T A intron_variant PRAD-CA 2 9356187 9356187 single base substitution G T intron_variant PRAD-CA 2 9423132 9423132 single base substitution C A intron_variant PRAD-CA 2 9443171 9443171 single base substitution T C intron_variant PRAD-CA 2 9444137 9444137 single base substitution G T intron_variant PRAD-CA 2 9445677 9445677 single base substitution C T intron_variant PRAD-CA 2 9457246 9457246 single base substitution A C intron_variant PRAD-CA 2 9479760 9479760 single base substitution G C intron_variant PRAD-CA 2 9492355 9492355 single base substitution C A intron_variant PRAD-CA 2 9517650 9517650 single base substitution G C intron_variant PRAD-UK 2 9344375 9344375 single base substitution C T upstream_gene_variant PRAD-UK 2 9359808 9359808 single base substitution T A intron_variant PRAD-UK 2 9371626 9371626 single base substitution G A intron_variant PRAD-UK 2 9381735 9381735 single base substitution C A intron_variant PRAD-UK 2 9393084 9393084 single base substitution G C intron_variant PRAD-UK 2 9396917 9396917 single base substitution C T intron_variant PRAD-UK 2 9400701 9400701 single base substitution C T intron_variant PRAD-UK 2 9406519 9406519 single base substitution G T intron_variant PRAD-UK 2 9417360 9417360 single base substitution C G intron_variant PRAD-UK 2 9440189 9440189 single base substitution T A intron_variant PRAD-UK 2 9440625 9440625 single base substitution A T intron_variant PRAD-UK 2 9445969 9445969 single base substitution G A intron_variant PRAD-UK 2 9451132 9451132 single base substitution A G intron_variant PRAD-UK 2 9460794 9460794 single base substitution G A intron_variant PRAD-UK 2 9467601 9467601 deletion of <=200bp A - intron_variant PRAD-UK 2 9468833 9468833 single base substitution C G intron_variant PRAD-UK 2 9473975 9473975 single base substitution T G intron_variant PRAD-UK 2 9478420 9478421 deletion of <=200bp CT - intron_variant PRAD-UK 2 9486232 9486232 single base substitution G A intron_variant PRAD-UK 2 9486232 9486232 single base substitution G A upstream_gene_variant PRAD-UK 2 9487649 9487649 single base substitution A G intron_variant PRAD-UK 2 9487649 9487649 single base substitution A G upstream_gene_variant PRAD-UK 2 9521329 9521329 single base substitution T G intron_variant PRAD-UK 2 9524130 9524130 single base substitution C T intron_variant PRAD-UK 2 9524130 9524130 single base substitution C T upstream_gene_variant PRAD-UK 2 9525665 9525665 single base substitution C G intron_variant PRAD-UK 2 9525665 9525665 single base substitution C G upstream_gene_variant PRAD-UK 2 9528607 9528607 single base substitution C G exon_variant PRAD-UK 2 9528607 9528607 single base substitution C G missense_variant P772R 2315C>G PRAD-UK 2 9535800 9535800 single base substitution G A intron_variant PRAD-UK 2 9535800 9535800 single base substitution G A upstream_gene_variant PRAD-UK 2 9540710 9540710 single base substitution C G intron_variant PRAD-UK 2 9549719 9549719 single base substitution C G downstream_gene_variant PRAD-US 2 9484733 9484733 single base substitution C T missense_variant R308W 922C>T PRAD-US 2 9484930 9484930 single base substitution G A splice_donor_variant PRAD-US 2 9528611 9528611 single base substitution C T exon_variant PRAD-US 2 9528611 9528611 single base substitution C T synonymous_variant P773P 2319C>T READ-US 2 9463303 9463303 single base substitution G T missense_variant R175L 524G>T READ-US 2 9475257 9475257 single base substitution G T missense_variant L266F 798G>T READ-US 2 9498912 9498912 single base substitution G A downstream_gene_variant READ-US 2 9498912 9498912 single base substitution G A missense_variant G452D 1355G>A READ-US 2 9528643 9528643 deletion of <=200bp C - exon_variant READ-US 2 9528643 9528643 deletion of <=200bp C - frameshift_variant A784 READ-US 2 9528650 9528650 single base substitution G A exon_variant READ-US 2 9528650 9528650 single base substitution G A synonymous_variant P786P 2358G>A READ-US 2 9540169 9540169 single base substitution C A exon_variant READ-US 2 9540169 9540169 single base substitution C A missense_variant P856Q 2567C>A READ-US 2 9540169 9540169 single base substitution C A missense_variant P901Q 2702C>A RECA-EU 2 9361368 9361368 single base substitution T C intron_variant RECA-EU 2 9364567 9364567 single base substitution C A intron_variant RECA-EU 2 9370160 9370160 single base substitution T C intron_variant RECA-EU 2 9370731 9370731 single base substitution C T intron_variant RECA-EU 2 9373607 9373607 single base substitution C G intron_variant RECA-EU 2 9377447 9377447 single base substitution G A intron_variant RECA-EU 2 9377448 9377448 single base substitution A T intron_variant RECA-EU 2 9379510 9379510 single base substitution G A intron_variant RECA-EU 2 9394954 9394954 single base substitution G C intron_variant RECA-EU 2 9400233 9400233 single base substitution C G intron_variant RECA-EU 2 9403102 9403102 single base substitution C A intron_variant RECA-EU 2 9412955 9412955 single base substitution A G intron_variant RECA-EU 2 9420006 9420006 single base substitution T C intron_variant RECA-EU 2 9423959 9423959 single base substitution C T intron_variant RECA-EU 2 9424930 9424930 single base substitution A G intron_variant RECA-EU 2 9424933 9424933 single base substitution A G intron_variant RECA-EU 2 9428245 9428245 single base substitution A G intron_variant RECA-EU 2 9436093 9436093 single base substitution C G intron_variant RECA-EU 2 9438314 9438314 single base substitution A G intron_variant RECA-EU 2 9453802 9453802 single base substitution C A intron_variant RECA-EU 2 9458682 9458682 single base substitution C T synonymous_variant F125F 375C>T RECA-EU 2 9466407 9466407 single base substitution A T intron_variant RECA-EU 2 9470410 9470410 single base substitution C T intron_variant RECA-EU 2 9471338 9471338 single base substitution C A intron_variant RECA-EU 2 9477416 9477416 single base substitution G T intron_variant RECA-EU 2 9480227 9480227 single base substitution C G intron_variant RECA-EU 2 9481557 9481557 single base substitution A G intron_variant RECA-EU 2 9484913 9484913 single base substitution C T missense_variant T336I 1007C>T RECA-EU 2 9486214 9486214 single base substitution C T intron_variant RECA-EU 2 9486214 9486214 single base substitution C T upstream_gene_variant RECA-EU 2 9486550 9486550 single base substitution G A intron_variant RECA-EU 2 9486550 9486550 single base substitution G A upstream_gene_variant RECA-EU 2 9487814 9487814 single base substitution T C intron_variant RECA-EU 2 9487814 9487814 single base substitution T C upstream_gene_variant RECA-EU 2 9495034 9495034 single base substitution G A intron_variant RECA-EU 2 9497667 9497667 single base substitution T C downstream_gene_variant RECA-EU 2 9497667 9497667 single base substitution T C intron_variant RECA-EU 2 9503290 9503290 single base substitution T C intron_variant RECA-EU 2 9523329 9523329 single base substitution T C intron_variant RECA-EU 2 9544430 9544430 single base substitution T C 3_prime_UTR_variant RECA-EU 2 9544430 9544430 single base substitution T C downstream_gene_variant RECA-EU 2 9544430 9544430 single base substitution T C exon_variant RECA-EU 2 9547030 9547030 single base substitution T C downstream_gene_variant RECA-EU 2 9549329 9549329 single base substitution C T downstream_gene_variant RECA-EU 2 9549975 9549975 single base substitution T G downstream_gene_variant SKCA-BR 2 9343642 9343642 single base substitution G A upstream_gene_variant SKCA-BR 2 9350761 9350761 single base substitution G A intron_variant SKCA-BR 2 9352648 9352648 single base substitution G A intron_variant SKCA-BR 2 9354362 9354363 deletion of <=200bp TC - intron_variant SKCA-BR 2 9355480 9355480 single base substitution C T intron_variant SKCA-BR 2 9355794 9355794 insertion of <=200bp - GT intron_variant SKCA-BR 2 9356257 9356257 single base substitution A G intron_variant SKCA-BR 2 9362163 9362163 single base substitution C T intron_variant SKCA-BR 2 9362752 9362752 single base substitution T A intron_variant SKCA-BR 2 9365199 9365199 single base substitution C T intron_variant SKCA-BR 2 9365408 9365408 single base substitution G A intron_variant SKCA-BR 2 9366123 9366123 single base substitution T C intron_variant SKCA-BR 2 9368391 9368391 single base substitution C T intron_variant SKCA-BR 2 9369413 9369413 single base substitution T G intron_variant SKCA-BR 2 9376814 9376814 single base substitution G T intron_variant SKCA-BR 2 9378201 9378201 single base substitution G A intron_variant SKCA-BR 2 9384183 9384183 single base substitution C A intron_variant SKCA-BR 2 9384605 9384605 single base substitution T G intron_variant SKCA-BR 2 9385473 9385473 single base substitution T G intron_variant SKCA-BR 2 9389879 9389879 single base substitution G A intron_variant SKCA-BR 2 9389902 9389902 single base substitution A C intron_variant SKCA-BR 2 9393030 9393030 single base substitution C T intron_variant SKCA-BR 2 9394327 9394327 single base substitution G A intron_variant SKCA-BR 2 9394364 9394367 deletion of <=200bp AAAT - intron_variant SKCA-BR 2 9394365 9394367 deletion of <=200bp AAT - intron_variant SKCA-BR 2 9394383 9394383 insertion of <=200bp - TATATACACAC intron_variant SKCA-BR 2 9395281 9395281 single base substitution C T intron_variant SKCA-BR 2 9398829 9398829 single base substitution T G intron_variant SKCA-BR 2 9401703 9401703 single base substitution G A intron_variant SKCA-BR 2 9404839 9404839 single base substitution G C intron_variant SKCA-BR 2 9409719 9409719 single base substitution G A intron_variant SKCA-BR 2 9410957 9410957 single base substitution C T intron_variant SKCA-BR 2 9411990 9411990 single base substitution C T intron_variant SKCA-BR 2 9416034 9416034 single base substitution T C intron_variant SKCA-BR 2 9416786 9416786 single base substitution C T intron_variant SKCA-BR 2 9416787 9416787 single base substitution C T intron_variant SKCA-BR 2 9418765 9418765 single base substitution C T intron_variant SKCA-BR 2 9419190 9419193 deletion of <=200bp CAGG - intron_variant SKCA-BR 2 9420544 9420544 single base substitution T C intron_variant SKCA-BR 2 9422788 9422788 single base substitution A G intron_variant SKCA-BR 2 9423678 9423678 single base substitution C T intron_variant SKCA-BR 2 9429609 9429609 single base substitution A C intron_variant SKCA-BR 2 9431989 9431989 single base substitution A T intron_variant SKCA-BR 2 9435385 9435385 single base substitution C G intron_variant SKCA-BR 2 9436378 9436378 single base substitution T G intron_variant SKCA-BR 2 9436446 9436446 single base substitution C T intron_variant SKCA-BR 2 9438638 9438638 single base substitution C T intron_variant SKCA-BR 2 9440646 9440646 single base substitution C T intron_variant SKCA-BR 2 9441228 9441228 single base substitution G T intron_variant SKCA-BR 2 9441985 9441985 single base substitution T C intron_variant SKCA-BR 2 9442853 9442853 single base substitution C T intron_variant SKCA-BR 2 9444928 9444928 single base substitution A G intron_variant SKCA-BR 2 9444983 9444983 single base substitution A G intron_variant SKCA-BR 2 9445406 9445406 single base substitution T G intron_variant SKCA-BR 2 9445423 9445423 single base substitution A G intron_variant SKCA-BR 2 9445658 9445658 single base substitution G A intron_variant SKCA-BR 2 9445666 9445666 single base substitution A G intron_variant SKCA-BR 2 9445677 9445677 single base substitution C T intron_variant SKCA-BR 2 9445725 9445725 single base substitution T G intron_variant SKCA-BR 2 9445856 9445856 single base substitution G T intron_variant SKCA-BR 2 9445869 9445873 deletion of <=200bp AGTGG - intron_variant SKCA-BR 2 9445899 9445899 single base substitution T G intron_variant SKCA-BR 2 9445907 9445907 single base substitution A G intron_variant SKCA-BR 2 9445926 9445926 single base substitution G T intron_variant SKCA-BR 2 9445973 9445973 single base substitution G T intron_variant SKCA-BR 2 9446025 9446025 single base substitution C G intron_variant SKCA-BR 2 9446079 9446079 single base substitution C T intron_variant SKCA-BR 2 9446626 9446626 single base substitution A G intron_variant SKCA-BR 2 9446873 9446873 single base substitution C T intron_variant SKCA-BR 2 9447581 9447581 single base substitution T G intron_variant SKCA-BR 2 9448813 9448813 single base substitution T C intron_variant SKCA-BR 2 9449164 9449164 single base substitution C T intron_variant SKCA-BR 2 9454578 9454578 single base substitution G A intron_variant SKCA-BR 2 9457513 9457515 deletion of <=200bp CCA - intron_variant SKCA-BR 2 9458207 9458207 single base substitution C T intron_variant SKCA-BR 2 9458460 9458460 single base substitution A G intron_variant SKCA-BR 2 9458798 9458798 single base substitution G A intron_variant SKCA-BR 2 9463835 9463835 single base substitution C T intron_variant SKCA-BR 2 9466346 9466346 insertion of <=200bp - CA intron_variant SKCA-BR 2 9466763 9466763 single base substitution T C intron_variant SKCA-BR 2 9470076 9470076 single base substitution C T intron_variant SKCA-BR 2 9470898 9470898 single base substitution T C intron_variant SKCA-BR 2 9472433 9472433 single base substitution C T intron_variant SKCA-BR 2 9476223 9476223 single base substitution C T intron_variant SKCA-BR 2 9476229 9476229 single base substitution C A intron_variant SKCA-BR 2 9476429 9476429 single base substitution T C intron_variant SKCA-BR 2 9478902 9478902 single base substitution C T intron_variant SKCA-BR 2 9479355 9479355 single base substitution C T intron_variant SKCA-BR 2 9480471 9480471 single base substitution C T intron_variant SKCA-BR 2 9481214 9481214 single base substitution G A intron_variant SKCA-BR 2 9485041 9485041 single base substitution G A intron_variant SKCA-BR 2 9491139 9491139 single base substitution C T intron_variant SKCA-BR 2 9493830 9493830 single base substitution G A intron_variant SKCA-BR 2 9494680 9494680 single base substitution C T intron_variant SKCA-BR 2 9495947 9495947 single base substitution C T intron_variant SKCA-BR 2 9513262 9513262 single base substitution C G intron_variant SKCA-BR 2 9517142 9517142 single base substitution G A intron_variant SKCA-BR 2 9519956 9519956 single base substitution A C intron_variant SKCA-BR 2 9519957 9519957 single base substitution C T intron_variant SKCA-BR 2 9525761 9525761 single base substitution T G intron_variant SKCA-BR 2 9525761 9525761 single base substitution T G upstream_gene_variant SKCA-BR 2 9527207 9527207 single base substitution T G intron_variant SKCA-BR 2 9527207 9527207 single base substitution T G upstream_gene_variant SKCA-BR 2 9531879 9531879 insertion of <=200bp - TG intron_variant SKCA-BR 2 9532312 9532312 insertion of <=200bp - GGTTGAAAGTCTTC intron_variant SKCA-BR 2 9535971 9535971 single base substitution C T intron_variant SKCA-BR 2 9535971 9535971 single base substitution C T upstream_gene_variant SKCA-BR 2 9536164 9536164 single base substitution A T intron_variant SKCA-BR 2 9536164 9536164 single base substitution A T upstream_gene_variant SKCA-BR 2 9537856 9537856 insertion of <=200bp - GAT intron_variant SKCA-BR 2 9537856 9537856 insertion of <=200bp - GAT upstream_gene_variant SKCA-BR 2 9546303 9546303 single base substitution T G downstream_gene_variant SKCA-BR 2 9546637 9546637 single base substitution C A downstream_gene_variant SKCA-BR 2 9549970 9549970 insertion of <=200bp - CT downstream_gene_variant SKCM-US 2 9458656 9458656 single base substitution C G missense_variant Q117E 349C>G SKCM-US 2 9463340 9463340 single base substitution G T missense_variant M187I 561G>T SKCM-US 2 9474912 9474912 single base substitution C T synonymous_variant S244S 732C>T SKCM-US 2 9484673 9484673 single base substitution C T missense_variant R288C 862C>T SKCM-US 2 9490987 9490987 single base substitution C T exon_variant SKCM-US 2 9490987 9490987 single base substitution C T synonymous_variant T358T 1074C>T SKCM-US 2 9515056 9515056 single base substitution C T missense_variant P577S 1729C>T SKCM-US 2 9517083 9517083 single base substitution G T missense_variant R598L 1793G>T SKCM-US 2 9528533 9528533 single base substitution G A exon_variant SKCM-US 2 9528533 9528533 single base substitution G A synonymous_variant K747K 2241G>A SKCM-US 2 9528615 9528615 single base substitution C T exon_variant SKCM-US 2 9528615 9528615 single base substitution C T stop_gained Q775* 2323C>T SKCM-US 2 9528618 9528618 single base substitution C T exon_variant SKCM-US 2 9528618 9528618 single base substitution C T missense_variant P776S 2326C>T SKCM-US 2 9528646 9528646 single base substitution C T exon_variant SKCM-US 2 9528646 9528646 single base substitution C T missense_variant P785L 2354C>T SKCM-US 2 9528648 9528648 single base substitution C T exon_variant SKCM-US 2 9528648 9528648 single base substitution C T missense_variant P786S 2356C>T SKCM-US 2 9541476 9541476 single base substitution C T downstream_gene_variant SKCM-US 2 9541476 9541476 single base substitution C T exon_variant SKCM-US 2 9541476 9541476 single base substitution C T missense_variant S921F 2762C>T SKCM-US 2 9541476 9541476 single base substitution C T missense_variant S966F 2897C>T SKCM-US 2 9546967 9546967 single base substitution G A downstream_gene_variant SKCM-US 2 9547591 9547591 single base substitution T A downstream_gene_variant STAD-US 2 9437478 9437478 single base substitution C T synonymous_variant G83G 249C>T STAD-US 2 9437489 9437489 single base substitution T C missense_variant V87A 260T>C STAD-US 2 9437519 9437519 single base substitution C T missense_variant A97V 290C>T STAD-US 2 9463332 9463332 single base substitution G A missense_variant E185K 553G>A STAD-US 2 9491025 9491025 single base substitution G A splice_donor_variant STAD-US 2 9498920 9498920 single base substitution A T downstream_gene_variant STAD-US 2 9498920 9498920 single base substitution A T missense_variant T455S 1363A>T STAD-US 2 9508631 9508631 single base substitution C T synonymous_variant P513P 1539C>T STAD-US 2 9515014 9515014 single base substitution C T missense_variant L563F 1687C>T STAD-US 2 9525431 9525431 single base substitution C T stop_gained R692* 2074C>T STAD-US 2 9525431 9525431 single base substitution C T upstream_gene_variant STAD-US 2 9528481 9528481 single base substitution A G exon_variant STAD-US 2 9528481 9528481 single base substitution A G missense_variant Q730R 2189A>G STAD-US 2 9528643 9528643 insertion of <=200bp - CC exon_variant STAD-US 2 9528643 9528643 insertion of <=200bp - CC frameshift_variant A784A? STAD-US 2 9531279 9531279 single base substitution G A intron_variant STAD-US 2 9531279 9531279 single base substitution G A synonymous_variant P824P 2472G>A STAD-US 2 9531284 9531284 single base substitution C A intron_variant STAD-US 2 9531284 9531284 single base substitution C A missense_variant A826D 2477C>A STAD-US 2 9531313 9531313 single base substitution G A intron_variant STAD-US 2 9531313 9531313 single base substitution G A missense_variant V836M 2506G>A STAD-US 2 9541417 9541417 single base substitution T A downstream_gene_variant STAD-US 2 9541417 9541417 single base substitution T A exon_variant STAD-US 2 9541417 9541417 single base substitution T A synonymous_variant P901P 2703T>A STAD-US 2 9541417 9541417 single base substitution T A synonymous_variant P946P 2838T>A STAD-US 2 9543426 9543426 single base substitution G A downstream_gene_variant STAD-US 2 9543426 9543426 single base substitution G A exon_variant STAD-US 2 9543426 9543426 single base substitution G A synonymous_variant P952P 2856G>A STAD-US 2 9543426 9543426 single base substitution G A synonymous_variant P997P 2991G>A STAD-US 2 9547005 9547005 single base substitution T C downstream_gene_variant STAD-US 2 9547672 9547672 single base substitution T C downstream_gene_variant STAD-US 2 9548269 9548269 single base substitution G A downstream_gene_variant THCA-SA 2 9525416 9525416 single base substitution G A missense_variant V687I 2059G>A THCA-SA 2 9525416 9525416 single base substitution G A upstream_gene_variant THCA-SA 2 9528536 9528536 single base substitution G C exon_variant THCA-SA 2 9528536 9528536 single base substitution G C missense_variant E748D 2244G>C THCA-SA 2 9543852 9543852 single base substitution G A 3_prime_UTR_variant THCA-SA 2 9543852 9543852 single base substitution G A downstream_gene_variant THCA-SA 2 9543852 9543852 single base substitution G A exon_variant THCA-SA 2 9546805 9546805 single base substitution C T downstream_gene_variant THCA-US 2 9463306 9463306 single base substitution C G missense_variant T176S 527C>G THCA-US 2 9463376 9463376 single base substitution C T synonymous_variant C199C 597C>T UCEC-US 2 9419459 9419459 single base substitution A G missense_variant D47G 140A>G UCEC-US 2 9463365 9463365 single base substitution C T synonymous_variant L196L 586C>T UCEC-US 2 9484673 9484673 single base substitution C T missense_variant R288C 862C>T UCEC-US 2 9484907 9484907 single base substitution T G missense_variant F334C 1001T>G UCEC-US 2 9496329 9496329 single base substitution T C exon_variant UCEC-US 2 9496329 9496329 single base substitution T C synonymous_variant N394N 1182T>C UCEC-US 2 9496336 9496336 single base substitution G T exon_variant UCEC-US 2 9496336 9496336 single base substitution G T stop_gained E397* 1189G>T UCEC-US 2 9496450 9496450 single base substitution G A downstream_gene_variant UCEC-US 2 9496450 9496450 single base substitution G A missense_variant V435I 1303G>A UCEC-US 2 9498962 9498962 single base substitution C A downstream_gene_variant UCEC-US 2 9498962 9498962 single base substitution C A missense_variant H469N 1405C>A UCEC-US 2 9508556 9508556 single base substitution C T splice_region_variant UCEC-US 2 9514947 9514947 single base substitution C T synonymous_variant H540H 1620C>T UCEC-US 2 9515045 9515045 single base substitution C T missense_variant T573M 1718C>T UCEC-US 2 9528628 9528628 single base substitution C A exon_variant UCEC-US 2 9528628 9528628 single base substitution C A missense_variant P779H 2336C>A UCEC-US 2 9531245 9531245 single base substitution A G intron_variant UCEC-US 2 9531245 9531245 single base substitution A G missense_variant D813G 2438A>G UCEC-US 2 9548306 9548306 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Region-13 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + Region-24 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + T3498 COSM1409941 c.2350_2351insC p.L787fs*16 Insertion - Frameshift 2:9388513-9388514 + pfg008T COSM2823961 c.2351delC p.P786fs*25 Deletion - Frameshift 2:9388514-9388514 + TCGA-AM-5820-01 COSM3758410 c.1590C>T p.Y530Y Substitution - coding silent 2:9374788-9374788 + PA285 COSM1163266 c.162G>A p.M54I Substitution - Missense 2:9279352-9279352 + HDC82 COSM4636714 c.2280T>G p.N760K Substitution - Missense 2:9388443-9388443 + BN44 COSM1615211 c.958C>A p.R320R Substitution - coding silent 2:9344735-9344735 + 08-P8005 COSM4583690 c.2701C>T p.P901S Substitution - Missense 2:9400039-9400039 + TCGA-BR-6852-01 COSM4096249 c.1687C>T p.L563F Substitution - Missense 2:9374885-9374885 + T3262 COSM1409941 c.2350_2351insC p.L787fs*16 Insertion - Frameshift 2:9388513-9388514 + TCGA-F4-6856-01 COSM5173560 c.687-1_687insT p.Q232fs*15 Unknown 2:9334737-9334738 + cSCCP6 COSM136235 c.881G>A p.S294N Substitution - Missense 2:9344563-9344563 + TCGA-AZ-6598-01 COSM1409942 c.2988delC p.P997fs*>10 Deletion - Frameshift 2:9403294-9403294 + CSCC-32-T COSM4573136 c.984T>C p.C328C Substitution - coding silent 2:9344761-9344761 + TCGA-AA-3492-01 COSM1409934 c.397G>A p.G133R Substitution - Missense 2:9318575-9318575 + S01453 COSM309299 c.814A>G p.I272V Substitution - Missense 2:9335144-9335144 + Gp5D COSM2823916 c.537C>T p.S179S Substitution - coding silent 2:9323187-9323187 + TCGA-BS-A0UF-01 COSM1023643 c.862C>T p.R288C Substitution - Missense 2:9344544-9344544 + 3N63-VS-3T63 COSM4984552 c.1862G>A p.G621D Substitution - Missense 2:9378973-9378973 + LUAD-CHTN-MAD06-00668 COSM391330 c.2932_2933insT p.D978fs*10 Insertion - Frameshift 2:9401382-9401383 + TCGA-AN-A046-01 COSM278996 c.1252G>T p.E418* Substitution - Nonsense 2:9356270-9356270 + TCGA-18-3416-01 COSM722909 c.777G>T p.Q259H Substitution - Missense 2:9335107-9335107 + TCGA-B0-5703-01 COSM136235 c.881G>A p.S294N Substitution - Missense 2:9344563-9344563 + 587338 COSM1183710 c.2449C>T p.R817W Substitution - Missense 2:9391127-9391127 + TCGA-AP-A056-01 COSM1023647 c.1303G>A p.V435I Substitution - Missense 2:9356321-9356321 + TCGA-D1-A167-01 COSM1023653 c.2438A>G p.D813G Substitution - Missense 2:9391116-9391116 + C086 COSM5526991 c.2256T>C p.A752A Substitution - coding silent 2:9388419-9388419 + TCGA-BR-4368-01 COSM3840237 c.2074C>T p.R692* Substitution - Nonsense 2:9385302-9385302 + pfg019T COSM1642007 c.608T>C p.L203P Substitution - Missense 2:9327833-9327833 + T36 COSM4663590 c.222G>A p.Q74Q Substitution - coding silent 2:9297322-9297322 + Au4 COSM5602855 c.1050C>T p.N350N Substitution - coding silent 2:9350834-9350834 + TCGA-AA-3821-01 COSM294143 c.2820G>A p.Q940Q Substitution - coding silent 2:9400827-9400827 + S17_post COSM5574401 c.1988G>A p.R663H Substitution - Missense 2:9380780-9380780 + TCGA-K7-A5RG-01 COSM4930070 c.122A>T p.E41V Substitution - Missense 2:9207226-9207226 + sysucc-1317T COSM5449763 c.2852C>T p.A951V Substitution - Missense 2:9401302-9401302 + Gp2D COSM2823916 c.537C>T p.S179S Substitution - coding silent 2:9323187-9323187 + TCGA-EI-6882-01 COSM2823961 c.2351delC p.P786fs*25 Deletion - Frameshift 2:9388514-9388514 + QC2-39-T2 COSM2823972 c.2724G>A p.P908P Substitution - coding silent 2:9400062-9400062 + LIS07PT2 COSM1732240 c.2459C>T p.S820F Substitution - Missense 2:9391137-9391137 + CSCC-56-T COSM4490959 c.371C>T p.S124F Substitution - Missense 2:9318549-9318549 + TCGA-AA-3492-01 COSM1409940 c.2166C>A p.S722R Substitution - Missense 2:9388329-9388329 + TCGA-CA-6717-01 COSM1409937 c.1565G>T p.R522I Substitution - Missense 2:9374763-9374763 + TCGA-85-6561-01 COSM722906 c.1621G>C p.A541P Substitution - Missense 2:9374819-9374819 + TCGA-AP-A056-01 COSM1023646 c.1189G>T p.E397* Substitution - Nonsense 2:9356207-9356207 + TCGA-D3-A2J7-06 COSM3583944 c.1729C>T p.P577S Substitution - Missense 2:9374927-9374927 + Region-18 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + Region-5 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + TCGA-EI-6917-01 COSM3426754 c.1355G>A p.G452D Substitution - Missense 2:9358783-9358783 + LUAD-S01354 COSM385896 c.2219G>T p.R740I Substitution - Missense 2:9388382-9388382 + TCGA-RP-A695-06 COSM4896600 c.2323C>T p.Q775* Substitution - Nonsense 2:9388486-9388486 + PTC_441 COSM5957280 c.2059G>A p.V687I Substitution - Missense 2:9385287-9385287 + T23 COSM5344279 c.552C>T p.A184A Substitution - coding silent 2:9323202-9323202 + TCGA-EB-A431-01 COSM2823963 c.2354C>T p.P785L Substitution - Missense 2:9388517-9388517 + DN1107E COSM4663594 c.2922C>T p.D974D Substitution - coding silent 2:9401372-9401372 + TCGA-BH-A0AW-01 COSM443359 c.2448C>T p.S816S Substitution - coding silent 2:9391126-9391126 + TCGA-EE-A17X-06 COSM3583946 c.2326C>T p.P776S Substitution - Missense 2:9388489-9388489 + ESCC_134 COSM5642777 c.2899G>T p.E967* Substitution - Nonsense 2:9401349-9401349 + TCGA-D8-A27W-01 COSM1483350 c.626A>G p.K209R Substitution - Missense 2:9327851-9327851 + TCGA-CC-A3MB-01 COSM4933795 c.2565C>A p.S855R Substitution - Missense 2:9393528-9393528 + 2492728 COSM4583690 c.2701C>T p.P901S Substitution - Missense 2:9400039-9400039 + TCGA-DK-A1AC-01 COSM1307086 c.2751G>A p.T917T Substitution - coding silent 2:9400758-9400758 + PCSI_0609_Pa_P_526 COSM5761582 c.901A>G p.N301D Substitution - Missense 2:9344583-9344583 + TCGA-EE-A29D-06 COSM3583948 c.2897C>T p.S966F Substitution - Missense 2:9401347-9401347 + Au4 COSM1161376 c.1970C>T p.P657L Substitution - Missense 2:9380762-9380762 + TCGA-DD-A3A7-01 COSM4916189 c.1511G>A p.C504Y Substitution - Missense 2:9368474-9368474 + cSCCP6 COSM143665 c.1424_1425CC>TT p.S475F Substitution - Missense 2:9358852-9358853 + TCGA-EQ-A4SO-01 COSM4096250 c.2189A>G p.Q730R Substitution - Missense 2:9388352-9388352 + T3064 COSM4663591 c.1741G>A p.G581R Substitution - Missense 2:9374939-9374939 + Region-1 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + Au1 COSM5596302 c.1871C>T p.A624V Substitution - Missense 2:9378982-9378982 + TCGA-HC-7821-01 COSM180342 c.922C>T p.R308W Substitution - Missense 2:9344604-9344604 + Region-30 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + BD236T COSM5518274 c.951C>T p.D317D Substitution - coding silent 2:9344633-9344633 + TCGA-AD-6895-01 COSM1409939 c.1953C>T p.N651N Substitution - coding silent 2:9380745-9380745 + LAU165 COSM231803 c.170C>T p.S57F Substitution - Missense 2:9279360-9279360 + TCGA-F5-6813-01 COSM576486 c.524G>T p.R175L Substitution - Missense 2:9323174-9323174 + GC_306T-GC_306N COSM2823970 c.2544A>C p.P848P Substitution - coding silent 2:9393507-9393507 + BD114T COSM5502422 c.1215G>T p.K405N Substitution - Missense 2:9356233-9356233 + TCGA-AN-A046-01 COSM1409936 c.959G>A p.R320Q Substitution - Missense 2:9344736-9344736 + TCGA-DV-5575-01 COSM3364853 c.2965G>C p.D989H Substitution - Missense 2:9403271-9403271 + TCGA-BQ-7044-01 COSM3991498 c.1693G>C p.A565P Substitution - Missense 2:9374891-9374891 + TCGA-F4-6570-01 COSM3695677 c.2986T>A p.F996I Substitution - Missense 2:9403292-9403292 + SJOS001106_D1 COSM5023564 c.1111+7C>G p.? Unknown 2:9350902-9350902 + TCGA-AY-6197-01 COSM3695636 c.2682G>A p.P894P Substitution - coding silent 2:9393645-9393645 + Region-2 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + TCGA-IZ-8195-01 COSM3991500 c.2287T>C p.Y763H Substitution - Missense 2:9388450-9388450 + TCGA-CH-5788-01 COSM2823928 c.1023+1G>A p.? Unknown 2:9344801-9344801 + Region-12 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + YURAY COSM2823963 c.2354C>T p.P785L Substitution - Missense 2:9388517-9388517 + TCGA-BS-A0UF-01 COSM1023649 c.1464C>T p.L488L Substitution - coding silent 2:9368427-9368427 + Case6 COSM1579516 c.594G>T p.M198I Substitution - Missense 2:9323244-9323244 + ESCC_135 COSM5642917 c.1720_1721insA p.I576fs*8 Insertion - Frameshift 2:9374918-9374919 + Region-19 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + tumor_4189998 COSM1161376 c.1970C>T p.P657L Substitution - Missense 2:9380762-9380762 + TCGA-BR-8589-01 COSM4096247 c.1363A>T p.T455S Substitution - Missense 2:9358791-9358791 + TCGA-B7-5818-01 COSM4096248 c.1539C>T p.P513P Substitution - coding silent 2:9368502-9368502 + Region-23 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + TCGA-CJ-5683-01 COSM477733 c.650T>C p.L217P Substitution - Missense 2:9327875-9327875 + 587238 COSM1183709 c.874G>A p.A292T Substitution - Missense 2:9344556-9344556 + TCGA-EE-A29M-06 COSM3583941 c.561G>T p.M187I Substitution - Missense 2:9323211-9323211 + Region-4 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + SM-4B296 COSM5035701 c.1310G>T p.C437F Substitution - Missense 2:9356328-9356328 + TCGA-F1-6874-01 COSM4096251 c.2472G>A p.P824P Substitution - coding silent 2:9391150-9391150 + MT-198-T2 COSM5651337 c.2272T>C p.L758L Substitution - coding silent 2:9388435-9388435 + LUAD-5V8LT COSM401925 c.2945G>T p.W982L Substitution - Missense 2:9401395-9401395 + CSCC-20-T COSM4481674 c.2531C>T p.P844L Substitution - Missense 2:9393494-9393494 + TCGA-EE-A182-06 COSM3583943 c.1074C>T p.T358T Substitution - coding silent 2:9350858-9350858 + TCGA-BR-6452-01 COSM4096252 c.2477C>A p.A826D Substitution - Missense 2:9391155-9391155 + T1743 COSM4663592 c.2368C>T p.R790W Substitution - Missense 2:9388531-9388531 + ESO-077 COSM1245525 c.198G>T p.L66L Substitution - coding silent 2:9279388-9279388 + pfg068T COSM4749758 c.2086G>A p.E696K Substitution - Missense 2:9385314-9385314 + TCGA-AP-A059-01 COSM1023642 c.586C>T p.L196L Substitution - coding silent 2:9323236-9323236 + I2L-P19Ta-Tumor-Biopsy COSM5354147 c.2320G>A p.A774T Substitution - Missense 2:9388483-9388483 + TCGA-A6-5661-01 COSM1409935 c.952G>A p.G318R Substitution - Missense 2:9344634-9344634 + TCGA-34-5927-01 COSM722904 c.2447G>C p.S816T Substitution - Missense 2:9391125-9391125 + TCGA-A3-3346-01 COSM477736 c.2522C>A p.P841H Substitution - Missense 2:9393485-9393485 + HCT15 COSM1668692 c.776A>C p.Q259P Substitution - Missense 2:9335106-9335106 + HCC123T COSM3660006 c.763-8T>G p.? Unknown 2:9335085-9335085 + C0047T COSM4164610 c.375C>T p.F125F Substitution - coding silent 2:9318553-9318553 + TCGA-FP-A4BE-01 COSM4096255 c.2991G>A p.P997P Substitution - coding silent 2:9403297-9403297 + Region-16 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + TCGA-KK-A59V-01 COSM4878884 c.2319C>T p.P773P Substitution - coding silent 2:9388482-9388482 + HCC066T COSM5821307 c.537C>A p.S179R Substitution - Missense 2:9323187-9323187 + pfg212T COSM4749742 c.523C>T p.R175W Substitution - Missense 2:9323173-9323173 + S17_pre COSM5574401 c.1988G>A p.R663H Substitution - Missense 2:9380780-9380780 + ESCC_131 COSM1409941 c.2350_2351insC p.L787fs*16 Insertion - Frameshift 2:9388513-9388514 + I-01 COSM4766988 c.1652G>T p.C551F Substitution - Missense 2:9374850-9374850 + B89-12-Tumor COSM1752723 c.306A>C p.S102S Substitution - coding silent 2:9297406-9297406 + LS411 COSM2823977 c.2906A>G p.D969G Substitution - Missense 2:9401356-9401356 + DLBCL-PatientA COSM220187 c.2128C>T p.Q710* Substitution - Nonsense 2:9385356-9385356 + TCGA-DD-A39Y-01 COSM4934506 c.1704T>C p.D568D Substitution - coding silent 2:9374902-9374902 + PCSI_0537_Pa_P_526 COSM5031231 c.1604A>G p.Y535C Substitution - Missense 2:9374802-9374802 + TCGA-B5-A0JY-01 COSM1023650 c.1620C>T p.H540H Substitution - coding silent 2:9374818-9374818 + 7441 COSM1644406 c.1258A>G p.T420A Substitution - Missense 2:9356276-9356276 + TCGA-CM-6678-01 COSM180346 c.1653C>T p.C551C Substitution - coding silent 2:9374851-9374851 + 2521252 COSM5397569 c.1756G>A p.E586K Substitution - Missense 2:9376917-9376917 + PD11819a COSM5770245 c.449G>A p.W150* Substitution - Nonsense 2:9320316-9320316 + 8066440 COSM4406816 c.2439C>T p.D813D Substitution - coding silent 2:9391117-9391117 + Region-7 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + Region-29 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + TCGA-CJ-5686-01 COSM477735 c.2489C>T p.P830L Substitution - Missense 2:9391167-9391167 + LUAD-NYU739 COSM376273 c.1648C>G p.L550V Substitution - Missense 2:9374846-9374846 + CRC-06T COSM5457009 c.1584C>T p.A528A Substitution - coding silent 2:9374782-9374782 + ESO-153 COSM1245524 c.1085_1087delAGA p.K364delK Deletion - In frame 2:9350869-9350871 + TCGA-CG-5733-01 COSM4096253 c.2506G>A p.V836M Substitution - Missense 2:9391184-9391184 + T2940 COSM2823965 c.2357C>T p.P786L Substitution - Missense 2:9388520-9388520 + P06-1125 COSM243070 c.597C>T p.C199C Substitution - coding silent 2:9323247-9323247 + TCGA-F5-6814-01 COSM3426755 c.2702C>A p.P901Q Substitution - Missense 2:9400040-9400040 + CHC923T COSM4801453 c.1357A>G p.I453V Substitution - Missense 2:9358785-9358785 + TCGA-A4-8517-01 COSM3991499 c.1727T>C p.I576T Substitution - Missense 2:9374925-9374925 + Region-26 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + DN1401F COSM5961077 c.2384-3C>T p.? Unknown 2:9391059-9391059 + DLD1 COSM1668692 c.776A>C p.Q259P Substitution - Missense 2:9335106-9335106 + YUDUTY COSM1690188 c.2546C>T p.P849L Substitution - Missense 2:9393509-9393509 + HCT-15 COSM1668692 c.776A>C p.Q259P Substitution - Missense 2:9335106-9335106 + TCGA-06-5858-01 COSM3408032 c.1793G>A p.R598Q Substitution - Missense 2:9376954-9376954 + YULAN COSM1690187 c.854C>T p.S285F Substitution - Missense 2:9344536-9344536 + TCGA-AP-A056-01 COSM1023641 c.140A>G p.D47G Substitution - Missense 2:9279330-9279330 + TCGA-BR-4184-01 COSM4096243 c.260T>C p.V87A Substitution - Missense 2:9297360-9297360 + TCGA-DK-A3IN-01 COSM3799262 c.895C>A p.Q299K Substitution - Missense 2:9344577-9344577 + TCGA-AX-A063-01 COSM1023645 c.1182T>C p.N394N Substitution - coding silent 2:9356200-9356200 + 587284 COSM1183711 c.1762G>A p.A588T Substitution - Missense 2:9376923-9376923 + PT19_1 COSM5899386 c.1403T>C p.V468A Substitution - Missense 2:9358831-9358831 + OSCC-GB_01390111 COSM5954432 c.2130+7G>A p.? Unknown 2:9385365-9385365 + TCGA-BT-A20R-01 COSM1307085 c.183C>G p.I61M Substitution - Missense 2:9279373-9279373 + TCGA-63-5131-01 COSM722908 c.1024-1G>A p.? Unknown 2:9350807-9350807 + LUAD-NYU847 COSM376717 c.965T>C p.V322A Substitution - Missense 2:9344742-9344742 + TCGA-AX-A05Z-01 COSM1023644 c.1001T>G p.F334C Substitution - Missense 2:9344778-9344778 + TCGA-AZ-6601-01 COSM1409936 c.959G>A p.R320Q Substitution - Missense 2:9344736-9344736 + TCGA-CG-5728-01 COSM4096246 c.1111+1G>A p.? Unknown 2:9350896-9350896 + 23_tFL COSM4171187 c.1212T>G p.F404L Substitution - Missense 2:9356230-9356230 + RKO COSM2823961 c.2351delC p.P786fs*25 Deletion - Frameshift 2:9388514-9388514 + HCT8 COSM1668692 c.776A>C p.Q259P Substitution - Missense 2:9335106-9335106 + TCGA-BQ-5876-01 COSM3991501 c.2579T>C p.L860S Substitution - Missense 2:9393542-9393542 + TCGA-BS-A0UM-01 COSM1023652 c.2336C>A p.P779H Substitution - Missense 2:9388499-9388499 + TCGA-EJ-7331-01 COSM3673760 c.1286G>T p.R429M Substitution - Missense 2:9356304-9356304 + TCGA-AP-A059-01 COSM1023648 c.1405C>A p.H469N Substitution - Missense 2:9358833-9358833 + TCGA-CM-6171-01 COSM1409941 c.2350_2351insC p.L787fs*16 Insertion - Frameshift 2:9388513-9388514 + TCGA-EE-A2MR-06 COSM3583947 c.2356C>T p.P786S Substitution - Missense 2:9388519-9388519 + TCGA-18-3419-01 COSM722905 c.2289C>T p.Y763Y Substitution - coding silent 2:9388452-9388452 + TCGA-EB-A57M-01 COSM3583940 c.349C>G p.Q117E Substitution - Missense 2:9318527-9318527 + YULOCUS COSM5397569 c.1756G>A p.E586K Substitution - Missense 2:9376917-9376917 + 2492729 COSM5729481 c.2073G>A p.W691* Substitution - Nonsense 2:9385301-9385301 + 587234 COSM1183712 c.502G>A p.A168T Substitution - Missense 2:9323152-9323152 + Bulk-T COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + T3225 COSM1409941 c.2350_2351insC p.L787fs*16 Insertion - Frameshift 2:9388513-9388514 + CSCC-29-T COSM4485678 c.295C>T p.L99L Substitution - coding silent 2:9297395-9297395 + B59-Tumor COSM1483351 c.2313A>C p.P771P Substitution - coding silent 2:9388476-9388476 + TCGA-AB-2905-03 COSM166443 c.1622C>T p.A541V Substitution - Missense 2:9374820-9374820 + HCC4006 COSM1685191 c.1131T>G p.F377L Substitution - Missense 2:9356066-9356066 + PCSI_0001_Pa_X COSM3380252 c.2097T>A p.D699E Substitution - Missense 2:9385325-9385325 + Region-14 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + TCGA-EM-A3FR-01 COSM3372895 c.527C>G p.T176S Substitution - Missense 2:9323177-9323177 + HCC123 COSM3660006 c.763-8T>G p.? Unknown 2:9335085-9335085 + I2L-P19Ta-Tumor-Organoid COSM5354147 c.2320G>A p.A774T Substitution - Missense 2:9388483-9388483 + SA237 COSM212873 c.727C>A p.P243T Substitution - Missense 2:9334778-9334778 + HN_62814 COSM127371 c.1245C>T p.I415I Substitution - coding silent 2:9356263-9356263 + TCGA-F5-6814-01 COSM3426753 c.798G>T p.L266F Substitution - Missense 2:9335128-9335128 + Pat_63_B COSM5862978 c.1045C>T p.L349F Substitution - Missense 2:9350829-9350829 + 07-P8041 COSM2823921 c.714G>A p.V238V Substitution - coding silent 2:9334765-9334765 + Region-27 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + LOVO COSM1409941 c.2350_2351insC p.L787fs*16 Insertion - Frameshift 2:9388513-9388514 + TCGA-GN-A266-06 COSM3583945 c.1793G>T p.R598L Substitution - Missense 2:9376954-9376954 + TCGA-BH-A18G-01 COSM3840237 c.2074C>T p.R692* Substitution - Nonsense 2:9385302-9385302 + HT115 COSM2823943 c.1635G>A p.A545A Substitution - coding silent 2:9374833-9374833 + sysucc-773T COSM5460334 c.1630G>A p.A544T Substitution - Missense 2:9374828-9374828 + B59-Tumor COSM3933708 c.2316T>C p.P772P Substitution - coding silent 2:9388479-9388479 + 0060_CRUK_PC_0060_T1_DNA COSM5420711 c.2315C>G p.P772R Substitution - Missense 2:9388478-9388478 + TCGA-CM-6170-01 COSM3695635 c.849+2T>C p.? Unknown 2:9335181-9335181 + TCGA-EI-6507-01 COSM1565936 c.2358G>A p.P786P Substitution - coding silent 2:9388521-9388521 + 2530678 COSM5885339 c.2098G>A p.E700K Substitution - Missense 2:9385326-9385326 + TCGA-AA-A010-01 COSM278996 c.1252G>T p.E418* Substitution - Nonsense 2:9356270-9356270 + TCGA-A6-5661-01 COSM1409933 c.291G>A p.A97A Substitution - coding silent 2:9297391-9297391 + TCGA-BC-A10W-01 COSM4937370 c.2918T>C p.V973A Substitution - Missense 2:9401368-9401368 + B89-12 COSM1752723 c.306A>C p.S102S Substitution - coding silent 2:9297406-9297406 + 2492730 COSM5728244 c.2795C>A p.P932H Substitution - Missense 2:9400802-9400802 + CSCC-45-T COSM4472448 c.1784C>T p.S595F Substitution - Missense 2:9376945-9376945 + C91 COSM4444796 c.1030C>T p.R344W Substitution - Missense 2:9350814-9350814 + Region-17 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + LIM2405 COSM4642690 c.2350G>A p.A784T Substitution - Missense 2:9388513-9388513 + TCGA-BR-8487-01 COSM4096242 c.249C>T p.G83G Substitution - coding silent 2:9297349-9297349 + TCGA-GF-A6C9-06 COSM4901832 c.2241G>A p.K747K Substitution - coding silent 2:9388404-9388404 + T204 COSM443358 c.1786G>A p.V596M Substitution - Missense 2:9376947-9376947 + TCGA-D1-A160-01 COSM1023651 c.1718C>T p.T573M Substitution - Missense 2:9374916-9374916 + GHE1209 COSM5715103 c.1161-6T>C p.? Unknown 2:9356173-9356173 + PR-2858 COSM243071 c.690T>A p.F230L Substitution - Missense 2:9334741-9334741 + T19 COSM5618977 c.825C>T p.S275S Substitution - coding silent 2:9335155-9335155 + Pat_76_A COSM5862975 c.749C>T p.T250M Substitution - Missense 2:9334800-9334800 + LS411 COSM2823961 c.2351delC p.P786fs*25 Deletion - Frameshift 2:9388514-9388514 + TCGA-A2-A0T6-01 COSM443358 c.1786G>A p.V596M Substitution - Missense 2:9376947-9376947 + Pat_11_A COSM5862976 c.809G>A p.R270Q Substitution - Missense 2:9335139-9335139 + Pat_08_B COSM5862979 c.2950G>T p.G984C Substitution - Missense 2:9403256-9403256 + TCGA-HU-A4H4-01 COSM4096244 c.290C>T p.A97V Substitution - Missense 2:9297390-9297390 + TCGA-60-2726-01 COSM722910 c.712G>T p.V238L Substitution - Missense 2:9334763-9334763 + TCGA-14-3476-01 COSM3408031 c.93G>A p.A31A Substitution - coding silent 2:9207197-9207197 + TCGA-60-2713-01 COSM722907 c.1464C>A p.L488L Substitution - coding silent 2:9368427-9368427 + SJHGG049_A COSM4970938 c.953+9G>A p.? Unknown 2:9344644-9344644 + TCGA-BR-7851-01 COSM4096245 c.553G>A p.E185K Substitution - Missense 2:9323203-9323203 + Pat_41_B COSM5862977 c.934C>T p.L312F Substitution - Missense 2:9344616-9344616 + ACINAR01 COSM1735628 c.2993T>C p.V998A Substitution - Missense 2:9403299-9403299 + TCGA-EE-A2MR-06 COSM1023643 c.862C>T p.R288C Substitution - Missense 2:9344544-9344544 + YUCHUFA COSM1409941 c.2350_2351insC p.L787fs*16 Insertion - Frameshift 2:9388513-9388514 + T3225 COSM4663594 c.2922C>T p.D974D Substitution - coding silent 2:9401372-9401372 + Region-6 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + Region-3 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + T3503 COSM2823916 c.537C>T p.S179S Substitution - coding silent 2:9323187-9323187 + C0021T COSM4164611 c.1007C>T p.T336I Substitution - Missense 2:9344784-9344784 + I2L-P25-Tumor-Organoid COSM1183710 c.2449C>T p.R817W Substitution - Missense 2:9391127-9391127 + BN32 COSM1615210 c.455A>G p.D152G Substitution - Missense 2:9320322-9320322 + BN44T COSM1615211 c.958C>A p.R320R Substitution - coding silent 2:9344735-9344735 + 3N46-VS-3T46 COSM4982503 c.2349C>T p.S783S Substitution - coding silent 2:9388512-9388512 + S01453 COSM309299 c.814A>G p.I272V Substitution - Missense 2:9335144-9335144 + Region-11 COSM5748873 c.2934C>G p.D978E Substitution - Missense 2:9401384-9401384 + TCGA-D5-6922-01 COSM1409938 c.1667C>T p.T556M Substitution - Missense 2:9374865-9374865 + LUAD-NYU284 COSM372966 c.1949-1G>T p.? Unknown 2:9380740-9380740 + TCGA-E8-A433-01 COSM243070 c.597C>T p.C199C Substitution - coding silent 2:9323247-9323247 + CHC923T COSM4801453 c.1357A>G p.I453V Substitution - Missense 2:9358785-9358785 + BN32T COSM1615210 c.455A>G p.D152G Substitution - Missense 2:9320322-9320322 + TCGA-OL-A5RW-01 COSM3840236 c.2011G>A p.E671K Substitution - Missense 2:9380803-9380803 + TCGA-B7-5816-01 COSM4096254 c.2838T>A p.P946P Substitution - coding silent 2:9401288-9401288 + TCGA-K4-A3WS-01 COSM3799261 c.769C>G p.Q257E Substitution - Missense 2:9335099-9335099 + S02328 COSM5692037 c.458A>G p.Y153C Substitution - Missense 2:9320325-9320325 + TCGA-EE-A29L-06 COSM3583942 c.732C>T p.S244S Substitution - coding silent 2:9334783-9334783 + T578 COSM4663593 c.2917G>A p.V973M Substitution - Missense 2:9401367-9401367 + TCGA-GV-A40E-01 COSM3799263 c.1343C>A p.S448Y Substitution - Missense 2:9358771-9358771 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.555895;Hs.555902 2p25|2p24 603817

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AC IntronicInsertion . c.346-528_346-527insAC 2 9458125 CM A C Synonymous p.P771P c.2313A>C 2 9528605 BRCA AGA - InFrameDeletion p.K364delK c.1090_1092delAAG 2 9490998 ESCA A G Missense p.I272V c.814A>G 2 9475273 SCLC A G Missense p.K209R c.626A>G 2 9467980 BRCA A T Missense p.H695L c.2084A>T 2 9525441 LUAD C A Missense p.P243T c.727C>A 2 9474907 BRCA C A Missense p.P779H c.2336C>A 2 9528628 UCEC C A Missense p.P841H c.2522C>A 2 9533614 RCCC C A Missense p.Q299K c.895C>A 2 9484706 BLCA C A Synonymous p.L488L c.1464C>A 2 9508556 LUSC C G Missense p.I61M c.183C>G 2 9419502 BLCA C G Missense p.S770R c.2310C>G 2 9528602 COREAD C G Missense p.T176S c.527C>G 2 9463306 THCA C T IntronicSNV . c.127-15323C>T 2 9404123 CLL C T IntronicSNV . c.127-50C>T 2 9419396 NSCLC C T IntronicSNV . c.127-7744C>T 2 9411702 CM C T Missense p.H469Y c.1405C>T 2 9498962 CM C T Missense p.P577S c.1729C>T 2 9515056 CM C T Missense p.P657L c.1970C>T 2 9520891 DLBCL C T Missense p.P776S c.2326C>T 2 9528618 CM C T Missense p.P830L c.2489C>T 2 9531296 RCCC C T Missense p.R308W c.922C>T 2 9484733 COREAD C T Missense p.R308W c.922C>T 2 9484733 PRAD C T Missense p.S329L c.986C>T 2 9484892 HNSC C T Missense p.S683F c.2048C>T 2 9525405 LUAD C T Missense p.T573M c.1718C>T 2 9515045 UCEC C T Nonsense p.Q710* c.2128C>T 2 9525485 MM C T Nonsense p.R692* c.2074C>T 2 9525431 MM C T Nonsense p.R692* c.2074C>T 2 9525431 STAD C T Synonymous p.A676A c.2028C>T 2 9525385 CM C T Synonymous p.I415I c.1245C>T 2 9496392 HNSC C T Synonymous p.N543N c.1629C>T 2 9514956 MM C T Synonymous p.P513P c.1539C>T 2 9508631 STAD C T Synonymous p.S244S c.732C>T 2 9474912 CM C T Synonymous p.S816S c.2448C>T 2 9531255 BRCA C T Synonymous p.T358T c.1074C>T 2 9490987 CM C T Synonymous p.Y763Y c.2289C>T 2 9528581 LUSC G A IntronicSNV . c.126+14591G>A 2 9361950 CLL G A IntronicSNV . c.127-7818G>A 2 9411628 CM G A Missense p.D571N c.1711G>A 2 9515038 HNSC G A Missense p.D697N c.2089G>A 2 9525446 CM G A Missense p.S294N c.881G>A 2 9484692 RCCC G A Missense p.V596M c.1786G>A 2 9517076 BRCA G A Missense p.V836M c.2506G>A 2 9531313 STAD G A SpliceAcceptorSNV . c.1024-1G>A 2 9490936 LUSC G A SpliceDonorSNV . c.1023+1G>A 2 9484930 PRAD G A SpliceDonorSNV . c.1111+1G>A 2 9491025 STAD G A Synonymous p.A31A c.93G>A 2 9347326 GBM G A Synonymous p.L273L c.819G>A 2 9475278 CM G A Synonymous p.P824P c.2472G>A 2 9531279 STAD G C Missense p.A541P c.1621G>C 2 9514948 LUSC G C Missense p.A774P c.2320G>C 2 9528612 HNSC G C Missense p.D260H c.778G>C 2 9475237 LUAD G C Missense p.D989H c.2965G>C 2 9543400 RCCC G C Missense p.S816T c.2447G>C 2 9531254 LUSC GG AA Missense p.G968R c.2901_2902delinsAA 2 9541480 CM G T IntronicSNV . c.1024-1951G>T 2 9488986 CLL G T IntronicSNV . c.126+32547G>T 2 9379906 CLL G T Missense p.M187I c.561G>T 2 9463340 CM G T Missense p.Q259H c.777G>T 2 9475236 LUSC G T Missense p.R429M c.1286G>T 2 9496433 PRAD G T Missense p.V238L c.712G>T 2 9474892 LUSC G T Nonsense p.G180* c.538G>T 2 9463317 LUAD G T Synonymous p.P908P c.2724G>T 2 9540191 LUAD T A Synonymous p.P946P c.2838T>A 2 9541417 STAD T C IntronicSNV . c.126+34849T>C 2 9382208 CLL T C Missense p.F101L c.301T>C 2 9437530 CM T C Missense p.L203P c.608T>C 2 9467962 STAD T C Synonymous p.N394N c.1182T>C 2 9496329 UCEC T G IntronicSNV . c.345+8526T>G 2 9446100 CLL T G Synonymous p.S390S c.1170T>G 2 9496317 COREAD