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 18 55816791 55816791 + Intron SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr18:55816791G>A ACC 18 56035075 56035075 + Missense_Mutation SNP G G A TCGA-OR-A5KU-01A-11D-A29I-10 TCGA-OR-A5KU-10A-01D-A29L-10 g.chr18:56035075G>A c.2161G>A c.(2161-2163)Gta>Ata p.V721I ACC 18 56063446 56063446 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr18:56063446G>A c.2873G>A c.(2872-2874)cGa>cAa p.R958Q BLCA 18 55996293 55996293 + Silent SNP C C T TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr18:55996293C>T c.747C>T c.(745-747)ttC>ttT p.F249F BLCA 18 56018254 56018254 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr18:56018254G>A c.1685G>A c.(1684-1686)gGc>gAc p.G562D BLCA 18 56033282 56033282 + Missense_Mutation SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr18:56033282G>A c.1885G>A c.(1885-1887)Gaa>Aaa p.E629K BLCA 18 56033354 56033354 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr18:56033354G>A c.1957G>A c.(1957-1959)Gaa>Aaa p.E653K BRCA 18 55833023 55833023 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr18:55833023G>C c.52G>C c.(52-54)Gag>Cag p.E18Q BRCA 18 55916155 55916155 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr18:55916155G>C c.229G>C c.(229-231)Gaa>Caa p.E77Q BRCA 18 55990551 55990551 + Silent SNP G G A TCGA-BH-A0HL-01A-11W-A050-09 TCGA-BH-A0HL-10A-11W-A055-09 g.chr18:55990551G>A c.498G>A c.(496-498)caG>caA p.Q166Q BRCA 18 55992246 55992246 + Missense_Mutation SNP G G C TCGA-C8-A1HF-01A-11D-A135-09 TCGA-C8-A1HF-10A-01D-A135-09 g.chr18:55992246G>C c.532G>C c.(532-534)Gac>Cac p.D178H BRCA 18 56010162 56010162 + Missense_Mutation SNP C C G TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 g.chr18:56010162C>G c.1402C>G c.(1402-1404)Cgg>Ggg p.R468G BRCA 18 56018246 56018246 + Silent SNP C C T TCGA-E2-A1L6-01A-11D-A13L-09 TCGA-E2-A1L6-10A-01D-A13O-09 g.chr18:56018246C>T c.1677C>T c.(1675-1677)caC>caT p.H559H BRCA 18 56033400 56033400 + Missense_Mutation SNP T T A TCGA-A8-A09K-01A-11W-A019-09 TCGA-A8-A09K-10A-01W-A021-09 g.chr18:56033400T>A c.2003T>A c.(2002-2004)tTc>tAc p.F668Y BRCA 18 56054707 56054707 + Missense_Mutation SNP A A C TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 g.chr18:56054707A>C c.2524A>C c.(2524-2526)Att>Ctt p.I842L BRCA 18 56063421 56063421 + Missense_Mutation SNP C C G TCGA-AN-A03Y-01A-21W-A019-09 TCGA-AN-A03Y-10A-01W-A021-09 g.chr18:56063421C>G c.2848C>G c.(2848-2850)Cca>Gca p.P950A CESC 18 56024425 56024425 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr18:56024425G>A c.e19-1 CESC 18 56033348 56033348 + Missense_Mutation SNP G G C TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr18:56033348G>C c.1951G>C c.(1951-1953)Gag>Cag p.E651Q CESC 18 56034976 56034976 + Splice_Site SNP A A C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 g.chr18:56034976A>C c.e22-1 COAD 18 55833062 55833062 + Missense_Mutation SNP G G A TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr18:55833062G>A c.91G>A c.(91-93)Gat>Aat p.D31N COAD 18 55990492 55990492 + Nonsense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:55990492C>T c.439C>T c.(439-441)Cga>Tga p.R147* COAD 18 55992308 55992308 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:55992308G>A c.594G>A c.(592-594)ggG>ggA p.G198G COAD 18 55997991 55997991 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:55997991G>A c.835G>A c.(835-837)Gaa>Aaa p.E279K COAD 18 56002735 56002735 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:56002735G>A c.1091G>A c.(1090-1092)cGt>cAt p.R364H COAD 18 56008342 56008342 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr18:56008342C>T c.1198C>T c.(1198-1200)Cgc>Tgc p.R400C COAD 18 56008342 56008342 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr18:56008342C>T c.1198C>T c.(1198-1200)Cgc>Tgc p.R400C COAD 18 56018258 56018258 + Silent SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr18:56018258A>G c.1689A>G c.(1687-1689)cgA>cgG p.R563R COAD 18 56033294 56033294 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr18:56033294C>T c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W COAD 18 56033344 56033344 + Nonsense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:56033344G>A c.1947G>A c.(1945-1947)tgG>tgA p.W649* COAD 18 56035035 56035035 + Silent SNP G G A TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr18:56035035G>A c.2121G>A c.(2119-2121)ttG>ttA p.L707L COAD 18 56035073 56035073 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:56035073C>T c.2159C>T c.(2158-2160)gCc>gTc p.A720V COAD 18 56040472 56040472 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:56040472T>C c.2323T>C c.(2323-2325)Ttc>Ctc p.F775L COAD 18 56056329 56056329 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr18:56056329G>A c.2560G>A c.(2560-2562)Ggc>Agc p.G854S COAD 18 56057906 56057906 + Missense_Mutation SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr18:56057906G>A c.2684G>A c.(2683-2685)cGt>cAt p.R895H COAD 18 56057965 56057965 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:56057965G>A c.2743G>A c.(2743-2745)Gaa>Aaa p.E915K COADREAD 18 55833062 55833062 + Missense_Mutation SNP G G A TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr18:55833062G>A c.91G>A c.(91-93)Gat>Aat p.D31N COADREAD 18 55990492 55990492 + Nonsense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:55990492C>T c.439C>T c.(439-441)Cga>Tga p.R147* COADREAD 18 55992308 55992308 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:55992308G>A c.594G>A c.(592-594)ggG>ggA p.G198G COADREAD 18 55997991 55997991 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:55997991G>A c.835G>A c.(835-837)Gaa>Aaa p.E279K COADREAD 18 56002735 56002735 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:56002735G>A c.1091G>A c.(1090-1092)cGt>cAt p.R364H COADREAD 18 56008342 56008342 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr18:56008342C>T c.1198C>T c.(1198-1200)Cgc>Tgc p.R400C COADREAD 18 56008342 56008342 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr18:56008342C>T c.1198C>T c.(1198-1200)Cgc>Tgc p.R400C COADREAD 18 56010290 56010290 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:56010290C>T c.1530C>T c.(1528-1530)aaC>aaT p.N510N COADREAD 18 56018258 56018258 + Silent SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr18:56018258A>G c.1689A>G c.(1687-1689)cgA>cgG p.R563R COADREAD 18 56033273 56033273 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:56033273A>C c.1876A>C c.(1876-1878)Aac>Cac p.N626H COADREAD 18 56033294 56033294 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr18:56033294C>T c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W COADREAD 18 56033344 56033344 + Nonsense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:56033344G>A c.1947G>A c.(1945-1947)tgG>tgA p.W649* COADREAD 18 56035035 56035035 + Silent SNP G G A TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr18:56035035G>A c.2121G>A c.(2119-2121)ttG>ttA p.L707L COADREAD 18 56035073 56035073 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:56035073C>T c.2159C>T c.(2158-2160)gCc>gTc p.A720V COADREAD 18 56040472 56040472 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:56040472T>C c.2323T>C c.(2323-2325)Ttc>Ctc p.F775L COADREAD 18 56056329 56056329 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr18:56056329G>A c.2560G>A c.(2560-2562)Ggc>Agc p.G854S COADREAD 18 56057896 56057896 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr18:56057896G>A c.2674G>A c.(2674-2676)Gcc>Acc p.A892T COADREAD 18 56057906 56057906 + Missense_Mutation SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr18:56057906G>A c.2684G>A c.(2683-2685)cGt>cAt p.R895H COADREAD 18 56057965 56057965 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:56057965G>A c.2743G>A c.(2743-2745)Gaa>Aaa p.E915K DLBC 18 56057939 56057939 + Missense_Mutation SNP C C T TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr18:56057939C>T c.2717C>T c.(2716-2718)tCg>tTg p.S906L ESCA 18 55983218 55983218 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr18:55983218G>C c.302G>C c.(301-303)cGa>cCa p.R101P ESCA 18 55996356 55996356 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 g.chr18:55996356C>T c.810C>T c.(808-810)ccC>ccT p.P270P ESCA 18 56002725 56002725 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 g.chr18:56002725G>T c.1081G>T c.(1081-1083)Ggg>Tgg p.G361W ESCA 18 56063468 56063468 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr18:56063468G>T c.2895G>T c.(2893-2895)gtG>gtT p.V965V GBM 18 55916158 55916158 + Frame_Shift_Del DEL T T - TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr18:55916158delT c.232delT c.(232-234)tttfs p.F78fs GBM 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del GBM 18 56010160 56010160 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr18:56010160G>A c.1400G>A c.(1399-1401)cGt>cAt p.R467H GBMLGG 18 55912729 55912729 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 g.chr18:55912729A>G c.193A>G c.(193-195)Aca>Gca p.T65A GBMLGG 18 55916158 55916158 + Frame_Shift_Del DEL T T - TCGA-76-6661-01B-11D-1845-08 TCGA-76-6661-10A-01D-1845-08 g.chr18:55916158delT c.232delT c.(232-234)tttfs p.F78fs GBMLGG 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del GBMLGG 18 56008358 56008358 + Missense_Mutation SNP A A G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 g.chr18:56008358A>G c.1214A>G c.(1213-1215)aAt>aGt p.N405S GBMLGG 18 56010160 56010160 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 g.chr18:56010160G>A c.1400G>A c.(1399-1401)cGt>cAt p.R467H HNSC 18 55711935 55711935 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 g.chr18:55711935G>A c.43G>A c.(43-45)Gac>Aac p.D15N HNSC 18 55996286 55996286 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr18:55996286G>A c.740G>A c.(739-741)cGg>cAg p.R247Q HNSC 18 56001072 56001072 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr18:56001072T>G c.1013T>G c.(1012-1014)tTg>tGg p.L338W HNSC 18 56008370 56008370 + Missense_Mutation SNP G G A TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr18:56008370G>A c.1226G>A c.(1225-1227)cGa>cAa p.R409Q HNSC 18 56033442 56033442 + Missense_Mutation SNP T T A TCGA-IQ-A61L-01A-11D-A30E-08 TCGA-IQ-A61L-10A-01D-A30H-08 g.chr18:56033442T>A c.2045T>A c.(2044-2046)cTc>cAc p.L682H HNSC 18 56034991 56034991 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr18:56034991C>G c.2077C>G c.(2077-2079)Ctt>Gtt p.L693V KICH 18 56063457 56063457 + Missense_Mutation SNP C C T TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr18:56063457C>T c.2884C>T c.(2884-2886)Ctc>Ttc p.L962F KIPAN 18 55992364 55992364 + Missense_Mutation SNP G G T TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr18:55992364G>T c.650G>T c.(649-651)cGg>cTg p.R217L KIPAN 18 55992365 55992365 + Silent SNP G G A TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr18:55992365G>A c.651G>A c.(649-651)cgG>cgA p.R217R KIPAN 18 55996285 55996285 + Silent SNP C C A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr18:55996285C>A c.739C>A c.(739-741)Cgg>Agg p.R247R KIPAN 18 56033230 56033230 + Splice_Site SNP G G A TCGA-CJ-4644-01A-02D-1386-10 TCGA-CJ-4644-11A-01D-1251-10 g.chr18:56033230G>A c.e21-1 KIPAN 18 56033337 56033337 + Missense_Mutation SNP G G C TCGA-HE-A5NJ-01A-11D-A26P-10 TCGA-HE-A5NJ-10A-01D-A26P-10 g.chr18:56033337G>C c.1940G>C c.(1939-1941)aGa>aCa p.R647T KIPAN 18 56050535 56050535 + Nonsense_Mutation SNP A A T TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr18:56050535A>T c.2410A>T c.(2410-2412)Aaa>Taa p.K804* KIPAN 18 56063457 56063457 + Missense_Mutation SNP C C T TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr18:56063457C>T c.2884C>T c.(2884-2886)Ctc>Ttc p.L962F KIRC 18 55992365 55992365 + Silent SNP G G A TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr18:55992365G>A c.651G>A c.(649-651)cgG>cgA p.R217R KIRC 18 56033230 56033230 + Splice_Site SNP G G A TCGA-CJ-4644-01A-02D-1386-10 TCGA-CJ-4644-11A-01D-1251-10 g.chr18:56033230G>A c.e21-1 KIRP 18 55992364 55992364 + Missense_Mutation SNP G G T TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr18:55992364G>T c.650G>T c.(649-651)cGg>cTg p.R217L KIRP 18 55996285 55996285 + Silent SNP C C A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr18:55996285C>A c.739C>A c.(739-741)Cgg>Agg p.R247R KIRP 18 56033337 56033337 + Missense_Mutation SNP G G C TCGA-HE-A5NJ-01A-11D-A26P-10 TCGA-HE-A5NJ-10A-01D-A26P-10 g.chr18:56033337G>C c.1940G>C c.(1939-1941)aGa>aCa p.R647T KIRP 18 56050535 56050535 + Nonsense_Mutation SNP A A T TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr18:56050535A>T c.2410A>T c.(2410-2412)Aaa>Taa p.K804* LGG 18 55912729 55912729 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 g.chr18:55912729A>G c.193A>G c.(193-195)Aca>Gca p.T65A LGG 18 56008358 56008358 + Missense_Mutation SNP A A G TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 g.chr18:56008358A>G c.1214A>G c.(1213-1215)aAt>aGt p.N405S LIHC 18 55833084 55833084 + Missense_Mutation SNP T T A TCGA-3K-AAZ8-01A-12D-A38X-10 TCGA-3K-AAZ8-10A-01D-A38X-10 g.chr18:55833084T>A c.113T>A c.(112-114)tTt>tAt p.F38Y LIHC 18 55996342 55996342 + Missense_Mutation SNP G G C TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr18:55996342G>C c.796G>C c.(796-798)Ggc>Cgc p.G266R LIHC 18 56001068 56001068 + Silent SNP A A C TCGA-DD-AAEK-01A-11D-A40R-10 TCGA-DD-AAEK-10A-01D-A40U-10 g.chr18:56001068A>C c.1009A>C c.(1009-1011)Agg>Cgg p.R337R LIHC 18 56002763 56002763 + Silent SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr18:56002763A>G c.1119A>G c.(1117-1119)gaA>gaG p.E373E LIHC 18 56008984 56008984 + Silent SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr18:56008984T>C c.1332T>C c.(1330-1332)ccT>ccC p.P444P LIHC 18 56018257 56018257 + Missense_Mutation SNP G G A TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr18:56018257G>A c.1688G>A c.(1687-1689)cGa>cAa p.R563Q LIHC 18 56033235 56033235 + Missense_Mutation SNP A A T TCGA-DD-AAD8-01A-11D-A40R-10 TCGA-DD-AAD8-10A-01D-A40U-10 g.chr18:56033235A>T c.1838A>T c.(1837-1839)gAt>gTt p.D613V LIHC 18 56033299 56033299 + Silent SNP A A G TCGA-UB-A7MF-01A-11D-A33K-10 TCGA-UB-A7MF-10A-01D-A33K-10 g.chr18:56033299A>G c.1902A>G c.(1900-1902)agA>agG p.R634R LIHC 18 56034978 56034978 + Splice_Site SNP G G A TCGA-DD-AADI-01A-11D-A40R-10 TCGA-DD-AADI-10A-01D-A40U-10 g.chr18:56034978G>A c.2064G>A c.(2062-2064)acG>acA p.T688T LIHC 18 56056334 56056334 + Silent SNP C C T TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr18:56056334C>T c.2565C>T c.(2563-2565)ctC>ctT p.L855L LUAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del LUAD 18 55996235 55996235 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 g.chr18:55996235C>T c.689C>T c.(688-690)tCc>tTc p.S230F LUAD 18 55996303 55996303 + Missense_Mutation SNP A A T TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr18:55996303A>T c.757A>T c.(757-759)Agg>Tgg p.R253W LUAD 18 55998073 55998073 + Missense_Mutation SNP A A T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr18:55998073A>T c.917A>T c.(916-918)gAg>gTg p.E306V LUAD 18 55998078 55998078 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 g.chr18:55998078T>C c.922T>C c.(922-924)Tca>Cca p.S308P LUAD 18 56033381 56033381 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr18:56033381G>T c.1984G>T c.(1984-1986)Ggt>Tgt p.G662C LUAD 18 56052803 56052803 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr18:56052803G>T c.2472G>T c.(2470-2472)atG>atT p.M824I LUSC 18 55992303 55992303 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr18:55992303C>T c.589C>T c.(589-591)Ccc>Tcc p.P197S LUSC 18 56009014 56009014 + Silent SNP A A G TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr18:56009014A>G c.1362A>G c.(1360-1362)ttA>ttG p.L454L LUSC 18 56033437 56033437 + Silent SNP C C T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr18:56033437C>T c.2040C>T c.(2038-2040)taC>taT p.Y680Y OV 18 55912724 55912724 + Missense_Mutation SNP C C A TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 g.chr18:55912724C>A c.188C>A c.(187-189)aCa>aAa p.T63K OV 18 55989692 55989692 + Silent SNP T T C TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 g.chr18:55989692T>C c.384T>C c.(382-384)ttT>ttC p.F128F PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-2L-AAQE-01A-11D-A397-08 TCGA-2L-AAQE-11A-11D-A39A-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9I5-01A-11D-A38G-08 TCGA-3A-A9I5-10A-01D-A38J-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del PAAD 18 55998025 55998025 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:55998025C>T c.869C>T c.(868-870)gCt>gTt p.A290V PRAD 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 g.chr18:55992284_55992286delTCC c.570_572delTCC c.(568-573)cttcct>ctt p.P194del READ 18 56010290 56010290 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:56010290C>T c.1530C>T c.(1528-1530)aaC>aaT p.N510N READ 18 56033273 56033273 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:56033273A>C c.1876A>C c.(1876-1878)Aac>Cac p.N626H READ 18 56057896 56057896 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr18:56057896G>A c.2674G>A c.(2674-2676)Gcc>Acc p.A892T SKCM 18 55983259 55983259 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr18:55983259C>T c.343C>T c.(343-345)Ctt>Ttt p.L115F SKCM 18 55992244 55992244 + Missense_Mutation SNP T T A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr18:55992244T>A c.530T>A c.(529-531)gTt>gAt p.V177D SKCM 18 55992272 55992272 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr18:55992272C>T c.558C>T c.(556-558)caC>caT p.H186H SKCM 18 55992273 55992273 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr18:55992273C>T c.559C>T c.(559-561)Caa>Taa p.Q187* SKCM 18 55992285 55992285 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr18:55992285C>T c.571C>T c.(571-573)Cct>Tct p.P191S SKCM 18 55992363 55992363 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr18:55992363C>G c.649C>G c.(649-651)Cgg>Ggg p.R217G SKCM 18 55996240 55996240 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr18:55996240G>A c.694G>A c.(694-696)Gag>Aag p.E232K SKCM 18 56008369 56008369 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr18:56008369C>T c.1225C>T c.(1225-1227)Cga>Tga p.R409* SKCM 18 56008928 56008928 + Missense_Mutation SNP T T C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr18:56008928T>C c.1276T>C c.(1276-1278)Tcc>Ccc p.S426P SKCM 18 56008975 56008975 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr18:56008975C>T c.1323C>T c.(1321-1323)atC>atT p.I441I SKCM 18 56008976 56008976 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr18:56008976C>T c.1324C>T c.(1324-1326)Cgc>Tgc p.R442C SKCM 18 56008980 56008980 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr18:56008980G>A c.1328G>A c.(1327-1329)cGg>cAg p.R443Q SKCM 18 56024451 56024451 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr18:56024451C>T c.1734C>T c.(1732-1734)gaC>gaT p.D578D SKCM 18 56024452 56024452 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr18:56024452C>T c.1735C>T c.(1735-1737)Cca>Tca p.P579S SKCM 18 56054695 56054695 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr18:56054695G>A c.2512G>A c.(2512-2514)Gat>Aat p.D838N SKCM 18 56056398 56056398 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr18:56056398C>T c.2629C>T c.(2629-2631)Cac>Tac p.H877Y SKCM 18 56058729 56058729 + Frame_Shift_Del DEL T T - TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr18:56058729delT c.2763delT c.(2761-2763)ggtfs p.G921fs SKCM 18 56063468 56063468 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr18:56063468G>A c.2895G>A c.(2893-2895)gtG>gtA p.V965V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 56033354 56033354 single base substitution G A downstream_gene_variant BLCA-US 18 56033354 56033354 single base substitution G A exon_variant BLCA-US 18 56033354 56033354 single base substitution G A intron_variant BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E317K 949G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E512K 1534G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E513K 1537G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E532K 1594G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E549K 1645G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E589K 1765G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E625K 1873G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E633K 1897G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E645K 1933G>A BLCA-US 18 56033354 56033354 single base substitution G A missense_variant E653K 1957G>A BLCA-US 18 56033354 56033354 single base substitution G A upstream_gene_variant BOCA-FR 18 55826952 55826952 single base substitution G A intron_variant BOCA-FR 18 55911407 55911407 single base substitution G T intron_variant BOCA-FR 18 55911407 55911407 single base substitution G T upstream_gene_variant BOCA-FR 18 55945448 55945448 single base substitution C T intron_variant BOCA-FR 18 55946657 55946657 single base substitution T A intron_variant BOCA-FR 18 56036824 56036824 single base substitution G A downstream_gene_variant BOCA-FR 18 56036824 56036824 single base substitution G A intron_variant BOCA-FR 18 56036824 56036824 single base substitution G A upstream_gene_variant BRCA-EU 18 55707880 55707880 single base substitution C T upstream_gene_variant BRCA-EU 18 55711659 55711659 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 18 55711659 55711659 single base substitution C T upstream_gene_variant BRCA-EU 18 55712380 55712380 single base substitution C T intron_variant BRCA-EU 18 55712380 55712380 single base substitution C T upstream_gene_variant BRCA-EU 18 55712832 55712832 single base substitution C T exon_variant BRCA-EU 18 55712832 55712832 single base substitution C T intron_variant BRCA-EU 18 55712832 55712832 single base substitution C T upstream_gene_variant BRCA-EU 18 55715367 55715367 single base substitution C T intron_variant BRCA-EU 18 55715433 55715433 single base substitution G T intron_variant BRCA-EU 18 55716322 55716322 single base substitution A T intron_variant BRCA-EU 18 55716645 55716645 single base substitution C T intron_variant BRCA-EU 18 55716903 55716903 single base substitution T A intron_variant BRCA-EU 18 55718623 55718623 single base substitution A C intron_variant BRCA-EU 18 55718623 55718623 single base substitution A C upstream_gene_variant BRCA-EU 18 55719300 55719300 insertion of <=200bp - A intron_variant BRCA-EU 18 55719300 55719300 insertion of <=200bp - A upstream_gene_variant BRCA-EU 18 55722412 55722412 single base substitution G A intron_variant BRCA-EU 18 55724264 55724264 single base substitution G C intron_variant BRCA-EU 18 55724670 55724670 single base substitution G A intron_variant BRCA-EU 18 55726626 55726626 deletion of <=200bp C - intron_variant BRCA-EU 18 55728140 55728140 single base substitution G A intron_variant BRCA-EU 18 55728433 55728433 single base substitution G C intron_variant BRCA-EU 18 55729991 55729991 single base substitution C A intron_variant BRCA-EU 18 55731321 55731321 single base substitution C G intron_variant BRCA-EU 18 55731394 55731394 single base substitution C T intron_variant BRCA-EU 18 55732291 55732291 single base substitution T C intron_variant BRCA-EU 18 55732502 55732502 single base substitution C T intron_variant BRCA-EU 18 55732991 55732991 single base substitution G C intron_variant BRCA-EU 18 55734259 55734259 deletion of <=200bp A - intron_variant BRCA-EU 18 55734268 55734268 deletion of <=200bp T - intron_variant BRCA-EU 18 55735586 55735586 single base substitution C T intron_variant BRCA-EU 18 55736543 55736543 single base substitution C T intron_variant BRCA-EU 18 55737724 55737724 insertion of <=200bp - T intron_variant BRCA-EU 18 55739519 55739519 single base substitution C A intron_variant BRCA-EU 18 55741853 55741853 single base substitution G A intron_variant BRCA-EU 18 55742280 55742280 single base substitution C A intron_variant BRCA-EU 18 55743122 55743122 single base substitution C T intron_variant BRCA-EU 18 55744181 55744181 single base substitution C T intron_variant BRCA-EU 18 55745710 55745748 deletion of <=200bp CTGAGGGCTTCTCTCAGTAGTTGCTCTGTGTAGAATTTT - intron_variant BRCA-EU 18 55745962 55745962 single base substitution T C intron_variant BRCA-EU 18 55745963 55745963 single base substitution G T intron_variant BRCA-EU 18 55746214 55746214 single base substitution G A intron_variant BRCA-EU 18 55746392 55746392 single base substitution C G intron_variant BRCA-EU 18 55746859 55746859 single base substitution C G intron_variant BRCA-EU 18 55749039 55749039 single base substitution C G intron_variant BRCA-EU 18 55749047 55749047 insertion of <=200bp - T intron_variant BRCA-EU 18 55750236 55750236 single base substitution G T intron_variant BRCA-EU 18 55751123 55751123 single base substitution T C intron_variant BRCA-EU 18 55751523 55751523 deletion of <=200bp T - intron_variant BRCA-EU 18 55754522 55754522 single base substitution A T intron_variant BRCA-EU 18 55754522 55754522 single base substitution A T upstream_gene_variant BRCA-EU 18 55755657 55755657 single base substitution A T intron_variant BRCA-EU 18 55755657 55755657 single base substitution A T upstream_gene_variant BRCA-EU 18 55755937 55755937 deletion of <=200bp T - intron_variant BRCA-EU 18 55755937 55755937 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 55757028 55757028 single base substitution C G intron_variant BRCA-EU 18 55757028 55757028 single base substitution C G upstream_gene_variant BRCA-EU 18 55757145 55757145 single base substitution C G intron_variant BRCA-EU 18 55757145 55757145 single base substitution C G upstream_gene_variant BRCA-EU 18 55757179 55757179 single base substitution C G intron_variant BRCA-EU 18 55757179 55757179 single base substitution C G upstream_gene_variant BRCA-EU 18 55757324 55757324 single base substitution C T intron_variant BRCA-EU 18 55757324 55757324 single base substitution C T upstream_gene_variant BRCA-EU 18 55758551 55758551 single base substitution A T exon_variant BRCA-EU 18 55758551 55758551 single base substitution A T intron_variant BRCA-EU 18 55758907 55758907 single base substitution C T intron_variant BRCA-EU 18 55759697 55759697 single base substitution G C intron_variant BRCA-EU 18 55760260 55760260 deletion of <=200bp T - intron_variant BRCA-EU 18 55761442 55761442 single base substitution G A intron_variant BRCA-EU 18 55761544 55761544 single base substitution A T intron_variant BRCA-EU 18 55762292 55762292 single base substitution C T intron_variant BRCA-EU 18 55763176 55763176 single base substitution C T intron_variant BRCA-EU 18 55765414 55765414 single base substitution C G intron_variant BRCA-EU 18 55765664 55765664 single base substitution T G intron_variant BRCA-EU 18 55766004 55766004 single base substitution G C intron_variant BRCA-EU 18 55767176 55767176 single base substitution A T intron_variant BRCA-EU 18 55771899 55771899 single base substitution G T intron_variant BRCA-EU 18 55772140 55772140 single base substitution T C intron_variant BRCA-EU 18 55773282 55773282 single base substitution T A intron_variant BRCA-EU 18 55773386 55773386 single base substitution G C intron_variant BRCA-EU 18 55775294 55775294 single base substitution C T intron_variant BRCA-EU 18 55776872 55776872 single base substitution C T intron_variant BRCA-EU 18 55778652 55778652 single base substitution A T intron_variant BRCA-EU 18 55778653 55778653 insertion of <=200bp - C intron_variant BRCA-EU 18 55779539 55779539 single base substitution T C intron_variant BRCA-EU 18 55781177 55781177 single base substitution G A intron_variant BRCA-EU 18 55781573 55781573 deletion of <=200bp A - intron_variant BRCA-EU 18 55783156 55783156 single base substitution G A intron_variant BRCA-EU 18 55784830 55784830 single base substitution G T intron_variant BRCA-EU 18 55787266 55787266 single base substitution C G intron_variant BRCA-EU 18 55788098 55788098 single base substitution C T intron_variant BRCA-EU 18 55788740 55788740 single base substitution G A intron_variant BRCA-EU 18 55788781 55788781 single base substitution C T intron_variant BRCA-EU 18 55791854 55791854 single base substitution C G intron_variant BRCA-EU 18 55792341 55792341 single base substitution A G intron_variant BRCA-EU 18 55792709 55792709 single base substitution G C intron_variant BRCA-EU 18 55793607 55793607 single base substitution C T intron_variant BRCA-EU 18 55793956 55793956 single base substitution G A intron_variant BRCA-EU 18 55794077 55794077 insertion of <=200bp - C intron_variant BRCA-EU 18 55794989 55794989 single base substitution T C intron_variant BRCA-EU 18 55794990 55794990 single base substitution G T intron_variant BRCA-EU 18 55796075 55796075 single base substitution C T intron_variant BRCA-EU 18 55802173 55802173 single base substitution G A intron_variant BRCA-EU 18 55803949 55803949 single base substitution T A intron_variant BRCA-EU 18 55807000 55807000 single base substitution C G intron_variant BRCA-EU 18 55807932 55807934 deletion of <=200bp GAG - intron_variant BRCA-EU 18 55808725 55808725 insertion of <=200bp - T intron_variant BRCA-EU 18 55808733 55808733 single base substitution A T intron_variant BRCA-EU 18 55809021 55809021 single base substitution A G intron_variant BRCA-EU 18 55809961 55809961 single base substitution C T intron_variant BRCA-EU 18 55811109 55811109 single base substitution C T intron_variant BRCA-EU 18 55811968 55811968 single base substitution G A intron_variant BRCA-EU 18 55811968 55811968 single base substitution G A upstream_gene_variant BRCA-EU 18 55815174 55815174 single base substitution C G intron_variant BRCA-EU 18 55815174 55815174 single base substitution C G upstream_gene_variant BRCA-EU 18 55817757 55817757 single base substitution C T intron_variant BRCA-EU 18 55818097 55818097 single base substitution G A intron_variant BRCA-EU 18 55819052 55819052 single base substitution C G intron_variant BRCA-EU 18 55820253 55820253 single base substitution G C intron_variant BRCA-EU 18 55821456 55821456 single base substitution C A intron_variant BRCA-EU 18 55821997 55821997 single base substitution G A intron_variant BRCA-EU 18 55822015 55822015 single base substitution C T intron_variant BRCA-EU 18 55823556 55823556 single base substitution A G intron_variant BRCA-EU 18 55827533 55827533 single base substitution A G intron_variant BRCA-EU 18 55829707 55829707 single base substitution C T intron_variant BRCA-EU 18 55831597 55831597 insertion of <=200bp - A intron_variant BRCA-EU 18 55835430 55835430 single base substitution A G downstream_gene_variant BRCA-EU 18 55835430 55835430 single base substitution A G intron_variant BRCA-EU 18 55835938 55835938 single base substitution G A downstream_gene_variant BRCA-EU 18 55835938 55835938 single base substitution G A intron_variant BRCA-EU 18 55836162 55836162 single base substitution A G downstream_gene_variant BRCA-EU 18 55836162 55836162 single base substitution A G intron_variant BRCA-EU 18 55836387 55836387 single base substitution G A downstream_gene_variant BRCA-EU 18 55836387 55836387 single base substitution G A intron_variant BRCA-EU 18 55837923 55837923 single base substitution A G downstream_gene_variant BRCA-EU 18 55837923 55837923 single base substitution A G intron_variant BRCA-EU 18 55837935 55837935 single base substitution C T downstream_gene_variant BRCA-EU 18 55837935 55837935 single base substitution C T intron_variant BRCA-EU 18 55838938 55838938 single base substitution C G intron_variant BRCA-EU 18 55839424 55839424 single base substitution G T intron_variant BRCA-EU 18 55840160 55840160 single base substitution G C intron_variant BRCA-EU 18 55840383 55840383 single base substitution A G intron_variant BRCA-EU 18 55841612 55841612 single base substitution C T intron_variant BRCA-EU 18 55843033 55843033 single base substitution A G intron_variant BRCA-EU 18 55844163 55844163 single base substitution A T intron_variant BRCA-EU 18 55844936 55844936 single base substitution C T intron_variant BRCA-EU 18 55844979 55844979 single base substitution C T intron_variant BRCA-EU 18 55846705 55846705 single base substitution G C intron_variant BRCA-EU 18 55846777 55846777 single base substitution G T intron_variant BRCA-EU 18 55850834 55850834 single base substitution C G intron_variant BRCA-EU 18 55853939 55854001 deletion of <=200bp TCACAGCAGACTTAAGTGCCGGAGTTGGAGCTGCATTCCGGTATGCTTGCATAGACTCTCTTC - intron_variant BRCA-EU 18 55854259 55854259 single base substitution C T intron_variant BRCA-EU 18 55854294 55854294 single base substitution C T intron_variant BRCA-EU 18 55855347 55855347 single base substitution C T intron_variant BRCA-EU 18 55855453 55855453 single base substitution C G intron_variant BRCA-EU 18 55856678 55856678 single base substitution T A intron_variant BRCA-EU 18 55858617 55858617 single base substitution C T intron_variant BRCA-EU 18 55858617 55858617 single base substitution C T upstream_gene_variant BRCA-EU 18 55860395 55860395 single base substitution G A intron_variant BRCA-EU 18 55860395 55860395 single base substitution G A upstream_gene_variant BRCA-EU 18 55862619 55862619 single base substitution G A intron_variant BRCA-EU 18 55862619 55862619 single base substitution G A upstream_gene_variant BRCA-EU 18 55865756 55865756 single base substitution T C intron_variant BRCA-EU 18 55866504 55866504 single base substitution G A intron_variant BRCA-EU 18 55866947 55866947 single base substitution C A intron_variant BRCA-EU 18 55867761 55867761 single base substitution C T intron_variant BRCA-EU 18 55871079 55871079 single base substitution A G intron_variant BRCA-EU 18 55871848 55871848 single base substitution C T intron_variant BRCA-EU 18 55872405 55872405 single base substitution C G intron_variant BRCA-EU 18 55874853 55874853 single base substitution A G intron_variant BRCA-EU 18 55876662 55876662 single base substitution C G intron_variant BRCA-EU 18 55878788 55878791 deletion of <=200bp TAAG - intron_variant BRCA-EU 18 55879581 55879581 single base substitution C A intron_variant BRCA-EU 18 55882687 55882687 single base substitution G C intron_variant BRCA-EU 18 55882942 55882942 deletion of <=200bp A - intron_variant BRCA-EU 18 55883352 55883352 single base substitution G T intron_variant BRCA-EU 18 55888319 55888319 deletion of <=200bp T - intron_variant BRCA-EU 18 55888319 55888319 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 55888944 55888944 single base substitution A T 5_prime_UTR_variant BRCA-EU 18 55888944 55888944 single base substitution A T exon_variant BRCA-EU 18 55888944 55888944 single base substitution A T intron_variant BRCA-EU 18 55889792 55889792 single base substitution T C intron_variant BRCA-EU 18 55890112 55890112 single base substitution G A intron_variant BRCA-EU 18 55890545 55890545 single base substitution A T intron_variant BRCA-EU 18 55891011 55891011 single base substitution G A intron_variant BRCA-EU 18 55891088 55891088 single base substitution A T intron_variant BRCA-EU 18 55891645 55891645 single base substitution G A intron_variant BRCA-EU 18 55892069 55892069 single base substitution C A intron_variant BRCA-EU 18 55894498 55894498 single base substitution A C intron_variant BRCA-EU 18 55895761 55895761 single base substitution G A intron_variant BRCA-EU 18 55895891 55895891 single base substitution G T intron_variant BRCA-EU 18 55896553 55896553 single base substitution A C intron_variant BRCA-EU 18 55896990 55896990 single base substitution G A intron_variant BRCA-EU 18 55899053 55899053 single base substitution C G intron_variant BRCA-EU 18 55899264 55899264 insertion of <=200bp - TGTC intron_variant BRCA-EU 18 55902451 55902451 single base substitution T A intron_variant BRCA-EU 18 55903021 55903021 deletion of <=200bp C - intron_variant BRCA-EU 18 55904454 55904454 single base substitution G A intron_variant BRCA-EU 18 55904599 55904599 single base substitution C G intron_variant BRCA-EU 18 55904612 55904612 single base substitution A G intron_variant BRCA-EU 18 55904634 55904634 single base substitution G T intron_variant BRCA-EU 18 55906088 55906088 single base substitution A T intron_variant BRCA-EU 18 55906793 55906793 single base substitution A G intron_variant BRCA-EU 18 55907650 55907650 single base substitution G A intron_variant BRCA-EU 18 55908016 55908016 single base substitution C T intron_variant BRCA-EU 18 55908412 55908412 single base substitution T G intron_variant BRCA-EU 18 55909038 55909038 single base substitution C T intron_variant BRCA-EU 18 55912381 55912381 single base substitution C T intron_variant BRCA-EU 18 55912381 55912381 single base substitution C T upstream_gene_variant BRCA-EU 18 55912451 55912470 deletion of <=200bp CTAAGTAAACATTATTGGCA - intron_variant BRCA-EU 18 55912451 55912470 deletion of <=200bp CTAAGTAAACATTATTGGCA - upstream_gene_variant BRCA-EU 18 55913694 55913694 single base substitution G C downstream_gene_variant BRCA-EU 18 55913694 55913694 single base substitution G C intron_variant BRCA-EU 18 55913694 55913694 single base substitution G C upstream_gene_variant BRCA-EU 18 55915326 55915326 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 55915326 55915326 deletion of <=200bp T - intron_variant BRCA-EU 18 55916972 55916972 single base substitution T C downstream_gene_variant BRCA-EU 18 55916972 55916972 single base substitution T C intron_variant BRCA-EU 18 55919963 55919963 deletion of <=200bp T - intron_variant BRCA-EU 18 55920731 55920731 single base substitution G T intron_variant BRCA-EU 18 55920798 55920798 single base substitution T G intron_variant BRCA-EU 18 55921112 55921112 single base substitution C G intron_variant BRCA-EU 18 55921164 55921164 single base substitution C T intron_variant BRCA-EU 18 55921503 55921503 deletion of <=200bp T - intron_variant BRCA-EU 18 55921549 55921549 single base substitution T G intron_variant BRCA-EU 18 55921672 55921672 single base substitution G C intron_variant BRCA-EU 18 55922101 55922101 single base substitution A T intron_variant BRCA-EU 18 55922813 55922813 single base substitution C G intron_variant BRCA-EU 18 55923920 55923920 single base substitution C T intron_variant BRCA-EU 18 55924021 55924021 single base substitution T C intron_variant BRCA-EU 18 55924470 55924470 single base substitution T G intron_variant BRCA-EU 18 55924511 55924511 single base substitution G A intron_variant BRCA-EU 18 55925472 55925472 single base substitution G A intron_variant BRCA-EU 18 55927834 55927834 single base substitution T G intron_variant BRCA-EU 18 55927919 55927919 single base substitution A G intron_variant BRCA-EU 18 55928260 55928260 single base substitution T A intron_variant BRCA-EU 18 55928672 55928672 single base substitution T C intron_variant BRCA-EU 18 55928800 55928800 single base substitution C T intron_variant BRCA-EU 18 55928876 55928876 single base substitution T G intron_variant BRCA-EU 18 55929150 55929150 single base substitution G A intron_variant BRCA-EU 18 55929754 55929754 single base substitution G C intron_variant BRCA-EU 18 55930262 55930262 single base substitution C T intron_variant BRCA-EU 18 55931127 55931127 single base substitution A G intron_variant BRCA-EU 18 55932194 55932194 single base substitution C T intron_variant BRCA-EU 18 55932813 55932813 single base substitution G C intron_variant BRCA-EU 18 55933465 55933465 single base substitution A G intron_variant BRCA-EU 18 55933676 55933676 single base substitution C T intron_variant BRCA-EU 18 55934367 55934367 single base substitution A G intron_variant BRCA-EU 18 55935469 55935469 single base substitution G C intron_variant BRCA-EU 18 55935470 55935470 single base substitution G T intron_variant BRCA-EU 18 55935791 55935791 single base substitution G C intron_variant BRCA-EU 18 55935936 55935936 single base substitution G A intron_variant BRCA-EU 18 55936903 55936903 single base substitution G C intron_variant BRCA-EU 18 55937997 55937997 single base substitution A G intron_variant BRCA-EU 18 55938251 55938251 single base substitution A G intron_variant BRCA-EU 18 55939127 55939127 single base substitution T A intron_variant BRCA-EU 18 55939492 55939492 single base substitution A G intron_variant BRCA-EU 18 55939970 55939970 single base substitution C G intron_variant BRCA-EU 18 55940472 55940472 single base substitution A G intron_variant BRCA-EU 18 55941920 55941920 single base substitution G A intron_variant BRCA-EU 18 55948690 55948690 single base substitution C A intron_variant BRCA-EU 18 55949383 55949383 single base substitution G A intron_variant BRCA-EU 18 55950200 55950200 single base substitution C T intron_variant BRCA-EU 18 55950879 55950879 single base substitution A C intron_variant BRCA-EU 18 55952173 55952173 single base substitution C G intron_variant BRCA-EU 18 55952559 55952560 deletion of <=200bp GT - intron_variant BRCA-EU 18 55952930 55952930 single base substitution C A intron_variant BRCA-EU 18 55954536 55954536 single base substitution G A intron_variant BRCA-EU 18 55955461 55955461 single base substitution G T intron_variant BRCA-EU 18 55956277 55956277 single base substitution A G intron_variant BRCA-EU 18 55957006 55957006 single base substitution A G intron_variant BRCA-EU 18 55957387 55957387 single base substitution C G intron_variant BRCA-EU 18 55957823 55957823 single base substitution G A intron_variant BRCA-EU 18 55958420 55958420 single base substitution C T intron_variant BRCA-EU 18 55960722 55960722 single base substitution G T intron_variant BRCA-EU 18 55961507 55961507 single base substitution G A intron_variant BRCA-EU 18 55962975 55962975 single base substitution T C intron_variant BRCA-EU 18 55963048 55963048 deletion of <=200bp T - intron_variant BRCA-EU 18 55963347 55963347 single base substitution C T intron_variant BRCA-EU 18 55964841 55964841 single base substitution G C intron_variant BRCA-EU 18 55965193 55965193 single base substitution A G intron_variant BRCA-EU 18 55966196 55966196 single base substitution C A intron_variant BRCA-EU 18 55966570 55966570 single base substitution C T intron_variant BRCA-EU 18 55967161 55967161 single base substitution C T intron_variant BRCA-EU 18 55967638 55967638 single base substitution G T intron_variant BRCA-EU 18 55969967 55969967 single base substitution C T intron_variant BRCA-EU 18 55972580 55972580 single base substitution G C intron_variant BRCA-EU 18 55973000 55973000 single base substitution C G intron_variant BRCA-EU 18 55973093 55973093 single base substitution G C intron_variant BRCA-EU 18 55974040 55974040 single base substitution T C intron_variant BRCA-EU 18 55974892 55974892 single base substitution G A intron_variant BRCA-EU 18 55975526 55975526 single base substitution T C intron_variant BRCA-EU 18 55976179 55976179 single base substitution G A intron_variant BRCA-EU 18 55977701 55977701 single base substitution C T intron_variant BRCA-EU 18 55977701 55977701 single base substitution C T upstream_gene_variant BRCA-EU 18 55978241 55978241 insertion of <=200bp - T intron_variant BRCA-EU 18 55978241 55978241 insertion of <=200bp - T upstream_gene_variant BRCA-EU 18 55979719 55979719 single base substitution T C intron_variant BRCA-EU 18 55979719 55979719 single base substitution T C upstream_gene_variant BRCA-EU 18 55979969 55979969 single base substitution G C intron_variant BRCA-EU 18 55979969 55979969 single base substitution G C upstream_gene_variant BRCA-EU 18 55980163 55980163 single base substitution C T intron_variant BRCA-EU 18 55980163 55980163 single base substitution C T upstream_gene_variant BRCA-EU 18 55980443 55980443 single base substitution A T intron_variant BRCA-EU 18 55980443 55980443 single base substitution A T upstream_gene_variant BRCA-EU 18 55982427 55982427 single base substitution C T intron_variant BRCA-EU 18 55983649 55983649 single base substitution C T downstream_gene_variant BRCA-EU 18 55983649 55983649 single base substitution C T intron_variant BRCA-EU 18 55985338 55985338 single base substitution G T downstream_gene_variant BRCA-EU 18 55985338 55985338 single base substitution G T intron_variant BRCA-EU 18 55986309 55986309 single base substitution G A downstream_gene_variant BRCA-EU 18 55986309 55986309 single base substitution G A intron_variant BRCA-EU 18 55986309 55986309 single base substitution G A upstream_gene_variant BRCA-EU 18 55986440 55986440 single base substitution G C downstream_gene_variant BRCA-EU 18 55986440 55986440 single base substitution G C intron_variant BRCA-EU 18 55986440 55986440 single base substitution G C upstream_gene_variant BRCA-EU 18 55988747 55988748 deletion of <=200bp AT - intron_variant BRCA-EU 18 55988747 55988748 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 18 55990672 55990672 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 55990672 55990672 deletion of <=200bp A - intron_variant BRCA-EU 18 55990948 55990948 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 55990948 55990948 insertion of <=200bp - T intron_variant BRCA-EU 18 55991907 55991907 single base substitution G C downstream_gene_variant BRCA-EU 18 55991907 55991907 single base substitution G C intron_variant BRCA-EU 18 55993332 55993332 single base substitution G A downstream_gene_variant BRCA-EU 18 55993332 55993332 single base substitution G A intron_variant BRCA-EU 18 55993332 55993332 single base substitution G A upstream_gene_variant BRCA-EU 18 55996064 55996064 single base substitution G A downstream_gene_variant BRCA-EU 18 55996064 55996064 single base substitution G A intron_variant BRCA-EU 18 55996064 55996064 single base substitution G A upstream_gene_variant BRCA-EU 18 55997414 55997414 single base substitution C T downstream_gene_variant BRCA-EU 18 55997414 55997414 single base substitution C T intron_variant BRCA-EU 18 55997414 55997414 single base substitution C T upstream_gene_variant BRCA-EU 18 55998757 55998757 single base substitution A C downstream_gene_variant BRCA-EU 18 55998757 55998757 single base substitution A C intron_variant BRCA-EU 18 55999831 55999831 single base substitution G T downstream_gene_variant BRCA-EU 18 55999831 55999831 single base substitution G T intron_variant BRCA-EU 18 56005851 56005851 single base substitution G A downstream_gene_variant BRCA-EU 18 56005851 56005851 single base substitution G A intron_variant BRCA-EU 18 56005851 56005851 single base substitution G A upstream_gene_variant BRCA-EU 18 56007022 56007022 single base substitution C G downstream_gene_variant BRCA-EU 18 56007022 56007022 single base substitution C G intron_variant BRCA-EU 18 56007022 56007022 single base substitution C G upstream_gene_variant BRCA-EU 18 56007031 56007031 single base substitution G T downstream_gene_variant BRCA-EU 18 56007031 56007031 single base substitution G T intron_variant BRCA-EU 18 56007031 56007031 single base substitution G T upstream_gene_variant BRCA-EU 18 56007136 56007136 single base substitution A C downstream_gene_variant BRCA-EU 18 56007136 56007136 single base substitution A C intron_variant BRCA-EU 18 56007136 56007136 single base substitution A C upstream_gene_variant BRCA-EU 18 56007284 56007284 single base substitution C T downstream_gene_variant BRCA-EU 18 56007284 56007284 single base substitution C T intron_variant BRCA-EU 18 56007284 56007284 single base substitution C T upstream_gene_variant BRCA-EU 18 56008176 56008176 single base substitution A G downstream_gene_variant BRCA-EU 18 56008176 56008176 single base substitution A G intron_variant BRCA-EU 18 56008176 56008176 single base substitution A G upstream_gene_variant BRCA-EU 18 56010604 56010604 single base substitution A C intron_variant BRCA-EU 18 56011513 56011513 single base substitution C G intron_variant BRCA-EU 18 56011551 56011551 single base substitution C T intron_variant BRCA-EU 18 56012004 56012004 insertion of <=200bp - A intron_variant BRCA-EU 18 56013335 56013335 single base substitution C T intron_variant BRCA-EU 18 56013838 56013838 deletion of <=200bp T - intron_variant BRCA-EU 18 56015503 56015503 single base substitution T C intron_variant BRCA-EU 18 56015692 56015692 single base substitution T C intron_variant BRCA-EU 18 56016346 56016346 single base substitution C T intron_variant BRCA-EU 18 56016535 56016535 single base substitution C A intron_variant BRCA-EU 18 56017736 56017736 deletion of <=200bp A - intron_variant BRCA-EU 18 56020023 56020023 single base substitution G A intron_variant BRCA-EU 18 56022450 56022450 deletion of <=200bp A - intron_variant BRCA-EU 18 56022450 56022450 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 56022525 56022525 single base substitution A G intron_variant BRCA-EU 18 56022525 56022525 single base substitution A G upstream_gene_variant BRCA-EU 18 56024563 56024563 single base substitution C T intron_variant BRCA-EU 18 56024563 56024563 single base substitution C T upstream_gene_variant BRCA-EU 18 56024564 56024564 single base substitution G A intron_variant BRCA-EU 18 56024564 56024564 single base substitution G A upstream_gene_variant BRCA-EU 18 56024633 56024633 single base substitution C G intron_variant BRCA-EU 18 56024633 56024633 single base substitution C G upstream_gene_variant BRCA-EU 18 56025619 56025619 single base substitution C T intron_variant BRCA-EU 18 56025619 56025619 single base substitution C T upstream_gene_variant BRCA-EU 18 56026024 56026024 single base substitution C T intron_variant BRCA-EU 18 56026024 56026024 single base substitution C T upstream_gene_variant BRCA-EU 18 56027129 56027129 single base substitution G C exon_variant BRCA-EU 18 56027129 56027129 single base substitution G C intron_variant BRCA-EU 18 56027822 56027822 single base substitution G C intron_variant BRCA-EU 18 56027935 56027935 single base substitution C T intron_variant BRCA-EU 18 56031049 56031049 single base substitution T C intron_variant BRCA-EU 18 56031049 56031049 single base substitution T C upstream_gene_variant BRCA-EU 18 56031111 56031111 single base substitution G C intron_variant BRCA-EU 18 56031111 56031111 single base substitution G C upstream_gene_variant BRCA-EU 18 56031673 56031673 single base substitution T G intron_variant BRCA-EU 18 56031673 56031673 single base substitution T G upstream_gene_variant BRCA-EU 18 56032327 56032327 single base substitution C T intron_variant BRCA-EU 18 56032327 56032327 single base substitution C T upstream_gene_variant BRCA-EU 18 56032556 56032556 single base substitution C G intron_variant BRCA-EU 18 56032556 56032556 single base substitution C G upstream_gene_variant BRCA-EU 18 56032726 56032726 single base substitution C T intron_variant BRCA-EU 18 56032726 56032726 single base substitution C T upstream_gene_variant BRCA-EU 18 56032741 56032741 single base substitution G A intron_variant BRCA-EU 18 56032741 56032741 single base substitution G A upstream_gene_variant BRCA-EU 18 56033820 56033820 single base substitution G T downstream_gene_variant BRCA-EU 18 56033820 56033820 single base substitution G T intron_variant BRCA-EU 18 56033820 56033820 single base substitution G T upstream_gene_variant BRCA-EU 18 56034066 56034066 single base substitution G C downstream_gene_variant BRCA-EU 18 56034066 56034066 single base substitution G C intron_variant BRCA-EU 18 56034676 56034676 single base substitution C T downstream_gene_variant BRCA-EU 18 56034676 56034676 single base substitution C T intron_variant BRCA-EU 18 56035714 56035714 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 56035714 56035714 deletion of <=200bp A - intron_variant BRCA-EU 18 56035714 56035714 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 56036876 56036876 single base substitution G A downstream_gene_variant BRCA-EU 18 56036876 56036876 single base substitution G A intron_variant BRCA-EU 18 56036876 56036876 single base substitution G A upstream_gene_variant BRCA-EU 18 56040150 56040150 single base substitution A G intron_variant BRCA-EU 18 56040150 56040150 single base substitution A G upstream_gene_variant BRCA-EU 18 56042954 56042954 single base substitution T C downstream_gene_variant BRCA-EU 18 56042954 56042954 single base substitution T C intron_variant BRCA-EU 18 56043917 56043917 single base substitution G C downstream_gene_variant BRCA-EU 18 56043917 56043917 single base substitution G C intron_variant BRCA-EU 18 56045759 56045759 single base substitution G C intron_variant BRCA-EU 18 56046552 56046552 single base substitution G A intron_variant BRCA-EU 18 56046821 56046821 single base substitution C G intron_variant BRCA-EU 18 56047065 56047065 single base substitution G A intron_variant BRCA-EU 18 56050233 56050233 single base substitution A G intron_variant BRCA-EU 18 56050233 56050233 single base substitution A G upstream_gene_variant BRCA-EU 18 56050955 56050955 single base substitution G C intron_variant BRCA-EU 18 56050955 56050955 single base substitution G C upstream_gene_variant BRCA-EU 18 56051796 56051796 single base substitution G A intron_variant BRCA-EU 18 56051796 56051796 single base substitution G A upstream_gene_variant BRCA-EU 18 56052665 56052665 single base substitution G A intron_variant BRCA-EU 18 56052665 56052665 single base substitution G A upstream_gene_variant BRCA-EU 18 56053008 56053008 single base substitution C G intron_variant BRCA-EU 18 56053008 56053008 single base substitution C G upstream_gene_variant BRCA-EU 18 56053430 56053430 single base substitution A G intron_variant BRCA-EU 18 56053430 56053430 single base substitution A G upstream_gene_variant BRCA-EU 18 56056004 56056004 single base substitution C T exon_variant BRCA-EU 18 56056004 56056004 single base substitution C T intron_variant BRCA-EU 18 56056004 56056004 single base substitution C T upstream_gene_variant BRCA-EU 18 56057605 56057605 single base substitution T A downstream_gene_variant BRCA-EU 18 56057605 56057605 single base substitution T A exon_variant BRCA-EU 18 56057605 56057605 single base substitution T A intron_variant BRCA-EU 18 56057735 56057735 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 56057735 56057735 deletion of <=200bp A - exon_variant BRCA-EU 18 56057735 56057735 deletion of <=200bp A - intron_variant BRCA-EU 18 56057776 56057776 single base substitution A G downstream_gene_variant BRCA-EU 18 56057776 56057776 single base substitution A G exon_variant BRCA-EU 18 56057776 56057776 single base substitution A G intron_variant BRCA-EU 18 56059707 56059707 single base substitution G A downstream_gene_variant BRCA-EU 18 56059707 56059707 single base substitution G A intron_variant BRCA-EU 18 56059862 56059862 single base substitution C T downstream_gene_variant BRCA-EU 18 56059862 56059862 single base substitution C T intron_variant BRCA-EU 18 56060661 56060661 single base substitution C G downstream_gene_variant BRCA-EU 18 56060661 56060661 single base substitution C G intron_variant BRCA-EU 18 56061062 56061062 single base substitution G A downstream_gene_variant BRCA-EU 18 56061062 56061062 single base substitution G A intron_variant BRCA-EU 18 56061683 56061683 single base substitution G C downstream_gene_variant BRCA-EU 18 56061683 56061683 single base substitution G C intron_variant BRCA-EU 18 56065022 56065022 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 56065022 56065022 single base substitution G A downstream_gene_variant BRCA-EU 18 56065022 56065022 single base substitution G A exon_variant BRCA-EU 18 56065143 56065143 single base substitution G T 3_prime_UTR_variant BRCA-EU 18 56065143 56065143 single base substitution G T downstream_gene_variant BRCA-EU 18 56065143 56065143 single base substitution G T exon_variant BRCA-EU 18 56068577 56068593 deletion of <=200bp GAATTTGATACACACAG - 3_prime_UTR_variant BRCA-EU 18 56068577 56068593 deletion of <=200bp GAATTTGATACACACAG - downstream_gene_variant BRCA-EU 18 56068676 56068676 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 56068676 56068676 single base substitution G A downstream_gene_variant BRCA-EU 18 56068896 56068896 single base substitution G A downstream_gene_variant BRCA-EU 18 56073620 56073620 single base substitution G A downstream_gene_variant BRCA-FR 18 55715367 55715367 single base substitution C T intron_variant BRCA-FR 18 55717234 55717234 single base substitution C T intron_variant BRCA-FR 18 55717234 55717234 single base substitution C T upstream_gene_variant BRCA-FR 18 55728433 55728433 single base substitution G C intron_variant BRCA-FR 18 55728497 55728497 single base substitution C T intron_variant BRCA-FR 18 55731321 55731321 single base substitution C G intron_variant BRCA-FR 18 55731394 55731394 single base substitution C T intron_variant BRCA-FR 18 55732291 55732291 single base substitution T C intron_variant BRCA-FR 18 55732381 55732381 single base substitution A G intron_variant BRCA-FR 18 55757179 55757179 single base substitution C G intron_variant BRCA-FR 18 55757179 55757179 single base substitution C G upstream_gene_variant BRCA-FR 18 55758288 55758288 single base substitution T C exon_variant BRCA-FR 18 55758288 55758288 single base substitution T C intron_variant BRCA-FR 18 55758907 55758907 single base substitution C T intron_variant BRCA-FR 18 55763176 55763176 single base substitution C T intron_variant BRCA-FR 18 55779732 55779732 single base substitution A T intron_variant BRCA-FR 18 55787266 55787266 single base substitution C G intron_variant BRCA-FR 18 55791854 55791854 single base substitution C G intron_variant BRCA-FR 18 55793735 55793735 single base substitution A C intron_variant BRCA-FR 18 55808733 55808733 single base substitution A T intron_variant BRCA-FR 18 55808899 55808899 single base substitution T G intron_variant BRCA-FR 18 55822015 55822015 single base substitution C T intron_variant BRCA-FR 18 55824872 55824872 single base substitution T G intron_variant BRCA-FR 18 55835938 55835938 single base substitution G A downstream_gene_variant BRCA-FR 18 55835938 55835938 single base substitution G A intron_variant BRCA-FR 18 55860395 55860395 single base substitution G A intron_variant BRCA-FR 18 55860395 55860395 single base substitution G A upstream_gene_variant BRCA-FR 18 55861154 55861154 single base substitution C T intron_variant BRCA-FR 18 55861154 55861154 single base substitution C T upstream_gene_variant BRCA-FR 18 55882687 55882687 single base substitution G C intron_variant BRCA-FR 18 55896289 55896289 single base substitution G T intron_variant BRCA-FR 18 55899053 55899053 single base substitution C G intron_variant BRCA-FR 18 55899944 55899944 single base substitution C G intron_variant BRCA-FR 18 55928260 55928260 single base substitution T A intron_variant BRCA-FR 18 55935936 55935936 single base substitution G A intron_variant BRCA-FR 18 55939970 55939970 single base substitution C G intron_variant BRCA-FR 18 55954536 55954536 single base substitution G A intron_variant BRCA-FR 18 55955461 55955461 single base substitution G T intron_variant BRCA-FR 18 55964324 55964324 single base substitution A G intron_variant BRCA-FR 18 55965157 55965157 single base substitution C G intron_variant BRCA-FR 18 55965193 55965193 single base substitution A G intron_variant BRCA-FR 18 55967638 55967638 single base substitution G T intron_variant BRCA-FR 18 55996064 55996064 single base substitution G A downstream_gene_variant BRCA-FR 18 55996064 55996064 single base substitution G A intron_variant BRCA-FR 18 55996064 55996064 single base substitution G A upstream_gene_variant BRCA-FR 18 56004580 56004580 single base substitution C G downstream_gene_variant BRCA-FR 18 56004580 56004580 single base substitution C G intron_variant BRCA-FR 18 56004580 56004580 single base substitution C G upstream_gene_variant BRCA-FR 18 56007022 56007022 single base substitution C G downstream_gene_variant BRCA-FR 18 56007022 56007022 single base substitution C G intron_variant BRCA-FR 18 56007022 56007022 single base substitution C G upstream_gene_variant BRCA-FR 18 56037625 56037625 single base substitution T G downstream_gene_variant BRCA-FR 18 56037625 56037625 single base substitution T G intron_variant BRCA-FR 18 56037625 56037625 single base substitution T G splice_region_variant BRCA-FR 18 56037625 56037625 single base substitution T G upstream_gene_variant BRCA-FR 18 56043714 56043714 single base substitution T G downstream_gene_variant BRCA-FR 18 56043714 56043714 single base substitution T G intron_variant BRCA-FR 18 56048595 56048595 single base substitution C T intron_variant BRCA-FR 18 56060661 56060661 single base substitution C G downstream_gene_variant BRCA-FR 18 56060661 56060661 single base substitution C G intron_variant BRCA-KR 18 56031599 56031599 single base substitution T C intron_variant BRCA-KR 18 56031599 56031599 single base substitution T C upstream_gene_variant BRCA-UK 18 55733502 55733502 single base substitution C G intron_variant BRCA-UK 18 55733546 55733546 single base substitution C A intron_variant BRCA-UK 18 55749039 55749039 single base substitution C G intron_variant BRCA-UK 18 55836387 55836387 single base substitution G A downstream_gene_variant BRCA-UK 18 55836387 55836387 single base substitution G A intron_variant BRCA-UK 18 55856067 55856067 single base substitution A G intron_variant BRCA-UK 18 55867322 55867322 single base substitution C G intron_variant BRCA-UK 18 55888944 55888944 single base substitution A T 5_prime_UTR_variant BRCA-UK 18 55888944 55888944 single base substitution A T exon_variant BRCA-UK 18 55888944 55888944 single base substitution A T intron_variant BRCA-UK 18 55906088 55906088 single base substitution A T intron_variant BRCA-UK 18 55924470 55924470 single base substitution T G intron_variant BRCA-UK 18 55976200 55976200 single base substitution C T intron_variant BRCA-UK 18 55986347 55986347 single base substitution C T downstream_gene_variant BRCA-UK 18 55986347 55986347 single base substitution C T intron_variant BRCA-UK 18 55986347 55986347 single base substitution C T upstream_gene_variant BRCA-UK 18 56003932 56003932 single base substitution T G downstream_gene_variant BRCA-UK 18 56003932 56003932 single base substitution T G intron_variant BRCA-UK 18 56003932 56003932 single base substitution T G upstream_gene_variant BRCA-UK 18 56008176 56008176 single base substitution A G downstream_gene_variant BRCA-UK 18 56008176 56008176 single base substitution A G intron_variant BRCA-UK 18 56008176 56008176 single base substitution A G upstream_gene_variant BRCA-UK 18 56025407 56025407 single base substitution G A intron_variant BRCA-UK 18 56025407 56025407 single base substitution G A upstream_gene_variant BRCA-UK 18 56050955 56050955 single base substitution G C intron_variant BRCA-UK 18 56050955 56050955 single base substitution G C upstream_gene_variant BRCA-US 18 55833023 55833023 single base substitution G C 5_prime_UTR_variant BRCA-US 18 55833023 55833023 single base substitution G C exon_variant BRCA-US 18 55833023 55833023 single base substitution G C intron_variant BRCA-US 18 55833023 55833023 single base substitution G C missense_variant E10Q 28G>C BRCA-US 18 55833023 55833023 single base substitution G C missense_variant E18Q 52G>C BRCA-US 18 55833023 55833023 single base substitution G C splice_acceptor_variant BRCA-US 18 55916155 55916155 single base substitution G C 5_prime_UTR_variant BRCA-US 18 55916155 55916155 single base substitution G C downstream_gene_variant BRCA-US 18 55916155 55916155 single base substitution G C exon_variant BRCA-US 18 55916155 55916155 single base substitution G C intron_variant BRCA-US 18 55916155 55916155 single base substitution G C missense_variant E69Q 205G>C BRCA-US 18 55916155 55916155 single base substitution G C missense_variant E77Q 229G>C BRCA-US 18 55990551 55990551 single base substitution G A downstream_gene_variant BRCA-US 18 55990551 55990551 single base substitution G A exon_variant BRCA-US 18 55990551 55990551 single base substitution G A intron_variant BRCA-US 18 55990551 55990551 single base substitution G A synonymous_variant Q158Q 474G>A BRCA-US 18 55990551 55990551 single base substitution G A synonymous_variant Q166Q 498G>A BRCA-US 18 55990551 55990551 single base substitution G A synonymous_variant Q45Q 135G>A BRCA-US 18 55990551 55990551 single base substitution G A upstream_gene_variant BRCA-US 18 55992246 55992246 single base substitution G C downstream_gene_variant BRCA-US 18 55992246 55992246 single base substitution G C exon_variant BRCA-US 18 55992246 55992246 single base substitution G C intron_variant BRCA-US 18 55992246 55992246 single base substitution G C missense_variant D12H 34G>C BRCA-US 18 55992246 55992246 single base substitution G C missense_variant D170H 508G>C BRCA-US 18 55992246 55992246 single base substitution G C missense_variant D178H 532G>C BRCA-US 18 55992246 55992246 single base substitution G C missense_variant D57H 169G>C BRCA-US 18 56010162 56010162 single base substitution C G exon_variant BRCA-US 18 56010162 56010162 single base substitution C G intron_variant BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R327G 979C>G BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R347G 1039C>G BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R364G 1090C>G BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R404G 1210C>G BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R440G 1318C>G BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R448G 1342C>G BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R460G 1378C>G BRCA-US 18 56010162 56010162 single base substitution C G missense_variant R468G 1402C>G BRCA-US 18 56018246 56018246 single base substitution C T exon_variant BRCA-US 18 56018246 56018246 single base substitution C T intron_variant BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H223H 669C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H418H 1254C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H438H 1314C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H455H 1365C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H495H 1485C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H531H 1593C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H539H 1617C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H551H 1653C>T BRCA-US 18 56018246 56018246 single base substitution C T synonymous_variant H559H 1677C>T BRCA-US 18 56033400 56033400 single base substitution T A downstream_gene_variant BRCA-US 18 56033400 56033400 single base substitution T A exon_variant BRCA-US 18 56033400 56033400 single base substitution T A intron_variant BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F332Y 995T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F527Y 1580T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F528Y 1583T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F547Y 1640T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F564Y 1691T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F604Y 1811T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F640Y 1919T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F648Y 1943T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F660Y 1979T>A BRCA-US 18 56033400 56033400 single base substitution T A missense_variant F668Y 2003T>A BRCA-US 18 56033400 56033400 single base substitution T A upstream_gene_variant BRCA-US 18 56054707 56054707 single base substitution A C exon_variant BRCA-US 18 56054707 56054707 single base substitution A C intron_variant BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I506L 1516A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I701L 2101A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I702L 2104A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I721L 2161A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I738L 2212A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I778L 2332A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I814L 2440A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I822L 2464A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I834L 2500A>C BRCA-US 18 56054707 56054707 single base substitution A C missense_variant I842L 2524A>C BRCA-US 18 56054707 56054707 single base substitution A C upstream_gene_variant BRCA-US 18 56063421 56063421 single base substitution C G downstream_gene_variant BRCA-US 18 56063421 56063421 single base substitution C G exon_variant BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P614A 1840C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P809A 2425C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P810A 2428C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P81A 241C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P829A 2485C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P846A 2536C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P886A 2656C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P922A 2764C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P930A 2788C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P942A 2824C>G BRCA-US 18 56063421 56063421 single base substitution C G missense_variant P950A 2848C>G BTCA-JP 18 55863077 55863077 single base substitution A G intron_variant BTCA-JP 18 55863077 55863077 single base substitution A G upstream_gene_variant BTCA-JP 18 55992170 55992170 single base substitution C A downstream_gene_variant BTCA-JP 18 55992170 55992170 single base substitution C A intron_variant BTCA-JP 18 55996231 55996231 single base substitution G A downstream_gene_variant BTCA-JP 18 55996231 55996231 single base substitution G A exon_variant BTCA-JP 18 55996231 55996231 single base substitution G A intron_variant BTCA-JP 18 55996231 55996231 single base substitution G A missense_variant V108M 322G>A BTCA-JP 18 55996231 55996231 single base substitution G A missense_variant V221M 661G>A BTCA-JP 18 55996231 55996231 single base substitution G A missense_variant V229M 685G>A BTCA-JP 18 55996231 55996231 single base substitution G A missense_variant V63M 187G>A BTCA-JP 18 55996231 55996231 single base substitution G A upstream_gene_variant BTCA-JP 18 56024750 56024750 single base substitution G T intron_variant BTCA-JP 18 56024750 56024750 single base substitution G T upstream_gene_variant BTCA-JP 18 56040414 56040414 single base substitution A G exon_variant BTCA-JP 18 56040414 56040414 single base substitution A G intron_variant BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E419E 1257A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E614E 1842A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E615E 1845A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E634E 1902A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E651E 1953A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E691E 2073A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E727E 2181A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E735E 2205A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E747E 2241A>G BTCA-JP 18 56040414 56040414 single base substitution A G synonymous_variant E755E 2265A>G BTCA-JP 18 56052742 56052743 deletion of <=200bp CT - intron_variant BTCA-JP 18 56052742 56052743 deletion of <=200bp CT - upstream_gene_variant BTCA-JP 18 56054628 56054628 single base substitution T G intron_variant BTCA-JP 18 56054628 56054628 single base substitution T G upstream_gene_variant BTCA-JP 18 56054629 56054629 single base substitution G A intron_variant BTCA-JP 18 56054629 56054629 single base substitution G A upstream_gene_variant BTCA-JP 18 56054663 56054663 single base substitution T C intron_variant BTCA-JP 18 56054663 56054663 single base substitution T C splice_region_variant BTCA-JP 18 56054663 56054663 single base substitution T C upstream_gene_variant BTCA-JP 18 56063327 56063327 single base substitution C T downstream_gene_variant BTCA-JP 18 56063327 56063327 single base substitution C T intron_variant CESC-US 18 55981815 55981815 single base substitution G A exon_variant CESC-US 18 55981815 55981815 single base substitution G A intron_variant CESC-US 18 56024425 56024425 single base substitution G A intron_variant CESC-US 18 56024425 56024425 single base substitution G A splice_acceptor_variant CESC-US 18 56024425 56024425 single base substitution G A upstream_gene_variant CESC-US 18 56033348 56033348 single base substitution G C downstream_gene_variant CESC-US 18 56033348 56033348 single base substitution G C exon_variant CESC-US 18 56033348 56033348 single base substitution G C intron_variant CESC-US 18 56033348 56033348 single base substitution G C missense_variant E315Q 943G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E510Q 1528G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E511Q 1531G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E530Q 1588G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E547Q 1639G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E587Q 1759G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E623Q 1867G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E631Q 1891G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E643Q 1927G>C CESC-US 18 56033348 56033348 single base substitution G C missense_variant E651Q 1951G>C CESC-US 18 56033348 56033348 single base substitution G C upstream_gene_variant CESC-US 18 56034976 56034976 single base substitution A C downstream_gene_variant CESC-US 18 56034976 56034976 single base substitution A C intron_variant CESC-US 18 56034976 56034976 single base substitution A C splice_acceptor_variant CLLE-ES 18 55722344 55722344 single base substitution G A intron_variant CLLE-ES 18 55725980 55725980 single base substitution C T intron_variant CLLE-ES 18 55726557 55726557 single base substitution C T intron_variant CLLE-ES 18 55728466 55728466 single base substitution C T intron_variant CLLE-ES 18 55731997 55731997 single base substitution A G intron_variant CLLE-ES 18 55763642 55763642 single base substitution T A intron_variant CLLE-ES 18 55793414 55793414 single base substitution A G intron_variant CLLE-ES 18 55819050 55819050 single base substitution C T intron_variant CLLE-ES 18 55834472 55834472 single base substitution G T downstream_gene_variant CLLE-ES 18 55834472 55834472 single base substitution G T intron_variant CLLE-ES 18 55836817 55836817 single base substitution G A downstream_gene_variant CLLE-ES 18 55836817 55836817 single base substitution G A intron_variant CLLE-ES 18 55859606 55859606 single base substitution A G intron_variant CLLE-ES 18 55859606 55859606 single base substitution A G upstream_gene_variant CLLE-ES 18 55861254 55861254 single base substitution C T intron_variant CLLE-ES 18 55861254 55861254 single base substitution C T upstream_gene_variant CLLE-ES 18 55864308 55864308 single base substitution G A intron_variant CLLE-ES 18 55864308 55864308 single base substitution G A upstream_gene_variant CLLE-ES 18 55864537 55864537 single base substitution G A intron_variant CLLE-ES 18 55864537 55864537 single base substitution G A upstream_gene_variant CLLE-ES 18 55878531 55878531 single base substitution C T intron_variant CLLE-ES 18 55894404 55894404 single base substitution C A intron_variant CLLE-ES 18 55911434 55911434 single base substitution C T intron_variant CLLE-ES 18 55911434 55911434 single base substitution C T upstream_gene_variant CLLE-ES 18 55912171 55912171 single base substitution A C intron_variant CLLE-ES 18 55912171 55912171 single base substitution A C upstream_gene_variant CLLE-ES 18 55921908 55921908 single base substitution G T intron_variant CLLE-ES 18 55922620 55922620 single base substitution C T intron_variant CLLE-ES 18 55933082 55933082 single base substitution C A intron_variant CLLE-ES 18 55961911 55961911 single base substitution G A intron_variant CLLE-ES 18 55983167 55983167 single base substitution C T intron_variant CLLE-ES 18 56006739 56006739 single base substitution A T downstream_gene_variant CLLE-ES 18 56006739 56006739 single base substitution A T intron_variant CLLE-ES 18 56006739 56006739 single base substitution A T upstream_gene_variant CLLE-ES 18 56048044 56048044 single base substitution A T intron_variant COAD-US 18 55833062 55833062 single base substitution G A 5_prime_UTR_variant COAD-US 18 55833062 55833062 single base substitution G A exon_variant COAD-US 18 55833062 55833062 single base substitution G A intron_variant COAD-US 18 55833062 55833062 single base substitution G A missense_variant D23N 67G>A COAD-US 18 55833062 55833062 single base substitution G A missense_variant D31N 91G>A COAD-US 18 55992308 55992308 single base substitution G A downstream_gene_variant COAD-US 18 55992308 55992308 single base substitution G A exon_variant COAD-US 18 55992308 55992308 single base substitution G A intron_variant COAD-US 18 55992308 55992308 single base substitution G A synonymous_variant G190G 570G>A COAD-US 18 55992308 55992308 single base substitution G A synonymous_variant G198G 594G>A COAD-US 18 55992308 55992308 single base substitution G A synonymous_variant G32G 96G>A COAD-US 18 55992308 55992308 single base substitution G A synonymous_variant G77G 231G>A COAD-US 18 56002735 56002735 single base substitution G A downstream_gene_variant COAD-US 18 56002735 56002735 single base substitution G A exon_variant COAD-US 18 56002735 56002735 single base substitution G A intron_variant COAD-US 18 56002735 56002735 single base substitution G A missense_variant R243H 728G>A COAD-US 18 56002735 56002735 single base substitution G A missense_variant R356H 1067G>A COAD-US 18 56002735 56002735 single base substitution G A missense_variant R364H 1091G>A COAD-US 18 56008342 56008342 single base substitution C T exon_variant COAD-US 18 56008342 56008342 single base substitution C T intron_variant COAD-US 18 56008342 56008342 single base substitution C T missense_variant R259C 775C>T COAD-US 18 56008342 56008342 single base substitution C T missense_variant R279C 835C>T COAD-US 18 56008342 56008342 single base substitution C T missense_variant R372C 1114C>T COAD-US 18 56008342 56008342 single base substitution C T missense_variant R380C 1138C>T COAD-US 18 56008342 56008342 single base substitution C T missense_variant R392C 1174C>T COAD-US 18 56008342 56008342 single base substitution C T missense_variant R400C 1198C>T COAD-US 18 56018258 56018258 single base substitution A G exon_variant COAD-US 18 56018258 56018258 single base substitution A G intron_variant COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R227R 681A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R422R 1266A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R442R 1326A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R459R 1377A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R499R 1497A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R535R 1605A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R543R 1629A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R555R 1665A>G COAD-US 18 56018258 56018258 single base substitution A G synonymous_variant R563R 1689A>G COAD-US 18 56035035 56035035 single base substitution G A downstream_gene_variant COAD-US 18 56035035 56035035 single base substitution G A exon_variant COAD-US 18 56035035 56035035 single base substitution G A intron_variant COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L371L 1113G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L566L 1698G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L567L 1701G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L586L 1758G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L603L 1809G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L643L 1929G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L679L 2037G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L687L 2061G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L699L 2097G>A COAD-US 18 56035035 56035035 single base substitution G A synonymous_variant L707L 2121G>A COAD-US 18 56050549 56050549 single base substitution C T intron_variant COAD-US 18 56050549 56050549 single base substitution C T splice_region_variant COAD-US 18 56050549 56050549 single base substitution C T upstream_gene_variant COAD-US 18 56056329 56056329 single base substitution G A exon_variant COAD-US 18 56056329 56056329 single base substitution G A intron_variant COAD-US 18 56056329 56056329 single base substitution G A missense_variant G518S 1552G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G713S 2137G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G714S 2140G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G733S 2197G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G750S 2248G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G790S 2368G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G826S 2476G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G834S 2500G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G846S 2536G>A COAD-US 18 56056329 56056329 single base substitution G A missense_variant G854S 2560G>A COAD-US 18 56056329 56056329 single base substitution G A upstream_gene_variant COAD-US 18 56057906 56057906 single base substitution G A downstream_gene_variant COAD-US 18 56057906 56057906 single base substitution G A exon_variant COAD-US 18 56057906 56057906 single base substitution G A missense_variant R26H 77G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R559H 1676G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R754H 2261G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R755H 2264G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R774H 2321G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R791H 2372G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R831H 2492G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R867H 2600G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R875H 2624G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R887H 2660G>A COAD-US 18 56057906 56057906 single base substitution G A missense_variant R895H 2684G>A COAD-US 18 56057965 56057965 single base substitution G A downstream_gene_variant COAD-US 18 56057965 56057965 single base substitution G A exon_variant COAD-US 18 56057965 56057965 single base substitution G A missense_variant E46K 136G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E579K 1735G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E774K 2320G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E775K 2323G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E794K 2380G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E811K 2431G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E851K 2551G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E887K 2659G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E895K 2683G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E907K 2719G>A COAD-US 18 56057965 56057965 single base substitution G A missense_variant E915K 2743G>A COCA-CN 18 55772082 55772082 single base substitution G C intron_variant COCA-CN 18 55779703 55779703 single base substitution T G intron_variant COCA-CN 18 55816767 55816767 single base substitution A C 5_prime_UTR_variant COCA-CN 18 55816767 55816767 single base substitution A C intron_variant COCA-CN 18 55912833 55912833 single base substitution A T downstream_gene_variant COCA-CN 18 55912833 55912833 single base substitution A T intron_variant COCA-CN 18 55912833 55912833 single base substitution A T upstream_gene_variant COCA-CN 18 55996301 55996301 single base substitution G A downstream_gene_variant COCA-CN 18 55996301 55996301 single base substitution G A exon_variant COCA-CN 18 55996301 55996301 single base substitution G A intron_variant COCA-CN 18 55996301 55996301 single base substitution G A missense_variant R131H 392G>A COCA-CN 18 55996301 55996301 single base substitution G A missense_variant R244H 731G>A COCA-CN 18 55996301 55996301 single base substitution G A missense_variant R252H 755G>A COCA-CN 18 55996301 55996301 single base substitution G A missense_variant R86H 257G>A COCA-CN 18 55996301 55996301 single base substitution G A upstream_gene_variant COCA-CN 18 55996357 55996357 single base substitution G A downstream_gene_variant COCA-CN 18 55996357 55996357 single base substitution G A exon_variant COCA-CN 18 55996357 55996357 single base substitution G A intron_variant COCA-CN 18 55996357 55996357 single base substitution G A missense_variant E105K 313G>A COCA-CN 18 55996357 55996357 single base substitution G A missense_variant E150K 448G>A COCA-CN 18 55996357 55996357 single base substitution G A missense_variant E263K 787G>A COCA-CN 18 55996357 55996357 single base substitution G A missense_variant E271K 811G>A COCA-CN 18 55996357 55996357 single base substitution G A splice_region_variant COCA-CN 18 55996357 55996357 single base substitution G A upstream_gene_variant COCA-CN 18 55996425 55996425 single base substitution T C downstream_gene_variant COCA-CN 18 55996425 55996425 single base substitution T C intron_variant COCA-CN 18 55996425 55996425 single base substitution T C upstream_gene_variant COCA-CN 18 55996439 55996439 single base substitution C A downstream_gene_variant COCA-CN 18 55996439 55996439 single base substitution C A intron_variant COCA-CN 18 55996439 55996439 single base substitution C A upstream_gene_variant COCA-CN 18 56002693 56002693 single base substitution T C downstream_gene_variant COCA-CN 18 56002693 56002693 single base substitution T C intron_variant COCA-CN 18 56033496 56033496 single base substitution C T downstream_gene_variant COCA-CN 18 56033496 56033496 single base substitution C T intron_variant COCA-CN 18 56033496 56033496 single base substitution C T upstream_gene_variant COCA-CN 18 56033550 56033550 single base substitution C T downstream_gene_variant COCA-CN 18 56033550 56033550 single base substitution C T intron_variant COCA-CN 18 56033550 56033550 single base substitution C T upstream_gene_variant COCA-CN 18 56035088 56035088 single base substitution A C downstream_gene_variant COCA-CN 18 56035088 56035088 single base substitution A C exon_variant COCA-CN 18 56035088 56035088 single base substitution A C intron_variant COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K389T 1166A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K584T 1751A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K585T 1754A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K604T 1811A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K621T 1862A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K661T 1982A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K697T 2090A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K705T 2114A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K717T 2150A>C COCA-CN 18 56035088 56035088 single base substitution A C missense_variant K725T 2174A>C COCA-CN 18 56037849 56037849 single base substitution A G downstream_gene_variant COCA-CN 18 56037849 56037849 single base substitution A G intron_variant COCA-CN 18 56037849 56037849 single base substitution A G upstream_gene_variant COCA-CN 18 56050418 56050418 single base substitution A G intron_variant COCA-CN 18 56050418 56050418 single base substitution A G upstream_gene_variant COCA-CN 18 56063205 56063205 single base substitution C A downstream_gene_variant COCA-CN 18 56063205 56063205 single base substitution C A intron_variant COCA-CN 18 56063406 56063406 single base substitution C T downstream_gene_variant COCA-CN 18 56063406 56063406 single base substitution C T exon_variant COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R609C 1825C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R76C 226C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R804C 2410C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R805C 2413C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R824C 2470C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R841C 2521C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R881C 2641C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R917C 2749C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R925C 2773C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R937C 2809C>T COCA-CN 18 56063406 56063406 single base substitution C T missense_variant R945C 2833C>T EOPC-DE 18 55730243 55730243 single base substitution G A intron_variant EOPC-DE 18 55760301 55760301 single base substitution T G intron_variant EOPC-DE 18 55763967 55763967 single base substitution T A intron_variant EOPC-DE 18 55840408 55840408 single base substitution G A intron_variant EOPC-DE 18 55851688 55851688 single base substitution A G intron_variant EOPC-DE 18 55939451 55939451 single base substitution T C intron_variant EOPC-DE 18 55943926 55943926 single base substitution A T intron_variant EOPC-DE 18 55948931 55948931 single base substitution C T intron_variant EOPC-DE 18 55990343 55990343 single base substitution G A downstream_gene_variant EOPC-DE 18 55990343 55990343 single base substitution G A intron_variant EOPC-DE 18 55990343 55990343 single base substitution G A upstream_gene_variant EOPC-DE 18 56014453 56014453 single base substitution C A intron_variant ESAD-UK 18 55706653 55706653 single base substitution C T upstream_gene_variant ESAD-UK 18 55712385 55712385 single base substitution T A intron_variant ESAD-UK 18 55712385 55712385 single base substitution T A upstream_gene_variant ESAD-UK 18 55712474 55712474 insertion of <=200bp - T intron_variant ESAD-UK 18 55712474 55712474 insertion of <=200bp - T upstream_gene_variant ESAD-UK 18 55712475 55712475 single base substitution G T intron_variant ESAD-UK 18 55712475 55712475 single base substitution G T upstream_gene_variant ESAD-UK 18 55718570 55718570 single base substitution C T intron_variant ESAD-UK 18 55718570 55718570 single base substitution C T upstream_gene_variant ESAD-UK 18 55722372 55722372 single base substitution G A intron_variant ESAD-UK 18 55723695 55723695 single base substitution T C intron_variant ESAD-UK 18 55726163 55726163 single base substitution C A intron_variant ESAD-UK 18 55728072 55728072 single base substitution C T intron_variant ESAD-UK 18 55730026 55730026 single base substitution T G intron_variant ESAD-UK 18 55731079 55731079 single base substitution C A intron_variant ESAD-UK 18 55732926 55732926 single base substitution G A intron_variant ESAD-UK 18 55734067 55734067 single base substitution T G intron_variant ESAD-UK 18 55735464 55735464 single base substitution C T intron_variant ESAD-UK 18 55739605 55739605 single base substitution A G intron_variant ESAD-UK 18 55742997 55742997 insertion of <=200bp - A intron_variant ESAD-UK 18 55743238 55743238 single base substitution C T intron_variant ESAD-UK 18 55747511 55747511 single base substitution C T intron_variant ESAD-UK 18 55752651 55752651 single base substitution C A intron_variant ESAD-UK 18 55763720 55763720 single base substitution G A intron_variant ESAD-UK 18 55764552 55764552 single base substitution G C intron_variant ESAD-UK 18 55767287 55767288 deletion of <=200bp GA - intron_variant ESAD-UK 18 55767288 55767288 single base substitution A G intron_variant ESAD-UK 18 55767724 55767724 single base substitution C A intron_variant ESAD-UK 18 55774268 55774278 deletion of <=200bp GGGTTCTTCTG - intron_variant ESAD-UK 18 55775562 55775562 single base substitution T A intron_variant ESAD-UK 18 55780362 55780362 single base substitution G A intron_variant ESAD-UK 18 55781152 55781152 single base substitution G A intron_variant ESAD-UK 18 55783957 55783957 single base substitution C T intron_variant ESAD-UK 18 55785822 55785822 single base substitution C G intron_variant ESAD-UK 18 55786643 55786643 single base substitution T G intron_variant ESAD-UK 18 55787206 55787206 single base substitution A T intron_variant ESAD-UK 18 55792421 55792421 single base substitution G A intron_variant ESAD-UK 18 55795952 55795952 single base substitution T A intron_variant ESAD-UK 18 55800503 55800503 single base substitution C T intron_variant ESAD-UK 18 55807689 55807689 single base substitution C G intron_variant ESAD-UK 18 55808714 55808714 single base substitution G T intron_variant ESAD-UK 18 55808732 55808732 single base substitution T A intron_variant ESAD-UK 18 55811043 55811043 single base substitution C T intron_variant ESAD-UK 18 55814604 55814604 deletion of <=200bp A - intron_variant ESAD-UK 18 55814604 55814604 deletion of <=200bp A - upstream_gene_variant ESAD-UK 18 55816546 55816546 single base substitution T A intron_variant ESAD-UK 18 55816546 55816546 single base substitution T A upstream_gene_variant ESAD-UK 18 55818181 55818181 single base substitution A C intron_variant ESAD-UK 18 55819444 55819444 single base substitution C T intron_variant ESAD-UK 18 55819944 55819944 single base substitution C T intron_variant ESAD-UK 18 55825508 55825508 single base substitution G C intron_variant ESAD-UK 18 55825585 55825585 single base substitution G C intron_variant ESAD-UK 18 55826726 55826726 single base substitution G A intron_variant ESAD-UK 18 55829863 55829863 single base substitution G A intron_variant ESAD-UK 18 55830747 55830747 single base substitution G T intron_variant ESAD-UK 18 55842016 55842016 deletion of <=200bp T - intron_variant ESAD-UK 18 55843526 55843529 deletion of <=200bp TCCT - intron_variant ESAD-UK 18 55844590 55844590 single base substitution T C intron_variant ESAD-UK 18 55846905 55846905 single base substitution T C intron_variant ESAD-UK 18 55850800 55850800 deletion of <=200bp C - intron_variant ESAD-UK 18 55855314 55855314 single base substitution G A intron_variant ESAD-UK 18 55855960 55855960 single base substitution G A intron_variant ESAD-UK 18 55856497 55856497 single base substitution C T intron_variant ESAD-UK 18 55857913 55857913 single base substitution C T intron_variant ESAD-UK 18 55857913 55857913 single base substitution C T upstream_gene_variant ESAD-UK 18 55859424 55859424 single base substitution C T intron_variant ESAD-UK 18 55859424 55859424 single base substitution C T upstream_gene_variant ESAD-UK 18 55860312 55860312 single base substitution G A intron_variant ESAD-UK 18 55860312 55860312 single base substitution G A upstream_gene_variant ESAD-UK 18 55860648 55860648 single base substitution G A intron_variant ESAD-UK 18 55860648 55860648 single base substitution G A upstream_gene_variant ESAD-UK 18 55861905 55861905 single base substitution T C intron_variant ESAD-UK 18 55861905 55861905 single base substitution T C upstream_gene_variant ESAD-UK 18 55864156 55864156 single base substitution G T intron_variant ESAD-UK 18 55864156 55864156 single base substitution G T upstream_gene_variant ESAD-UK 18 55864377 55864378 deletion of <=200bp AG - intron_variant ESAD-UK 18 55864377 55864378 deletion of <=200bp AG - upstream_gene_variant ESAD-UK 18 55864832 55864832 single base substitution T C intron_variant ESAD-UK 18 55864832 55864832 single base substitution T C upstream_gene_variant ESAD-UK 18 55866876 55866876 single base substitution G A intron_variant ESAD-UK 18 55868810 55868810 single base substitution A T intron_variant ESAD-UK 18 55875645 55875645 deletion of <=200bp A - intron_variant ESAD-UK 18 55875850 55875850 single base substitution G A intron_variant ESAD-UK 18 55877830 55877830 single base substitution G A intron_variant ESAD-UK 18 55878834 55878834 single base substitution T G intron_variant ESAD-UK 18 55880473 55880473 deletion of <=200bp T - intron_variant ESAD-UK 18 55880895 55880895 single base substitution A C intron_variant ESAD-UK 18 55881615 55881615 single base substitution T C intron_variant ESAD-UK 18 55881651 55881651 single base substitution G A intron_variant ESAD-UK 18 55882942 55882942 insertion of <=200bp - A intron_variant ESAD-UK 18 55883590 55883590 single base substitution C G intron_variant ESAD-UK 18 55885584 55885584 single base substitution G A intron_variant ESAD-UK 18 55885584 55885584 single base substitution G A upstream_gene_variant ESAD-UK 18 55886302 55886302 insertion of <=200bp - T intron_variant ESAD-UK 18 55886302 55886302 insertion of <=200bp - T upstream_gene_variant ESAD-UK 18 55886377 55886377 single base substitution C A intron_variant ESAD-UK 18 55886377 55886377 single base substitution C A upstream_gene_variant ESAD-UK 18 55887846 55887846 single base substitution T C intron_variant ESAD-UK 18 55887846 55887846 single base substitution T C upstream_gene_variant ESAD-UK 18 55889798 55889798 single base substitution C T intron_variant ESAD-UK 18 55892118 55892118 single base substitution T G intron_variant ESAD-UK 18 55892301 55892301 insertion of <=200bp - A intron_variant ESAD-UK 18 55893045 55893045 single base substitution C A intron_variant ESAD-UK 18 55896226 55896226 single base substitution C T intron_variant ESAD-UK 18 55896442 55896442 single base substitution T C intron_variant ESAD-UK 18 55897172 55897172 deletion of <=200bp G - intron_variant ESAD-UK 18 55901349 55901352 deletion of <=200bp TTTT - intron_variant ESAD-UK 18 55901995 55901998 deletion of <=200bp TTTG - intron_variant ESAD-UK 18 55904065 55904065 single base substitution G A intron_variant ESAD-UK 18 55904281 55904281 insertion of <=200bp - AAC intron_variant ESAD-UK 18 55905016 55905016 single base substitution T C intron_variant ESAD-UK 18 55915324 55915324 deletion of <=200bp G - downstream_gene_variant ESAD-UK 18 55915324 55915324 deletion of <=200bp G - intron_variant ESAD-UK 18 55915326 55915326 single base substitution T A downstream_gene_variant ESAD-UK 18 55915326 55915326 single base substitution T A intron_variant ESAD-UK 18 55921050 55921050 single base substitution C A intron_variant ESAD-UK 18 55921258 55921258 single base substitution C T intron_variant ESAD-UK 18 55921270 55921270 single base substitution G A intron_variant ESAD-UK 18 55922621 55922621 single base substitution G A intron_variant ESAD-UK 18 55922625 55922625 single base substitution A T intron_variant ESAD-UK 18 55923129 55923129 single base substitution C T intron_variant ESAD-UK 18 55924768 55924768 single base substitution G C intron_variant ESAD-UK 18 55930061 55930061 single base substitution C T intron_variant ESAD-UK 18 55932813 55932813 single base substitution G A intron_variant ESAD-UK 18 55935195 55935195 single base substitution G A intron_variant ESAD-UK 18 55937012 55937012 single base substitution C T intron_variant ESAD-UK 18 55941362 55941362 single base substitution C T intron_variant ESAD-UK 18 55950324 55950324 insertion of <=200bp - TATG intron_variant ESAD-UK 18 55950460 55950460 single base substitution A C intron_variant ESAD-UK 18 55950884 55950884 single base substitution C G intron_variant ESAD-UK 18 55957109 55957109 single base substitution G A intron_variant ESAD-UK 18 55957558 55957558 single base substitution C T intron_variant ESAD-UK 18 55958799 55958799 single base substitution C T intron_variant ESAD-UK 18 55961706 55961706 single base substitution G A intron_variant ESAD-UK 18 55962930 55962930 single base substitution G A intron_variant ESAD-UK 18 55963061 55963061 single base substitution G C intron_variant ESAD-UK 18 55963841 55963841 single base substitution C T intron_variant ESAD-UK 18 55964315 55964315 single base substitution T C intron_variant ESAD-UK 18 55965523 55965523 single base substitution T C intron_variant ESAD-UK 18 55966558 55966558 single base substitution G A intron_variant ESAD-UK 18 55969330 55969330 single base substitution G C intron_variant ESAD-UK 18 55969994 55969994 single base substitution G T intron_variant ESAD-UK 18 55971539 55971539 single base substitution C T intron_variant ESAD-UK 18 55972195 55972195 single base substitution C T intron_variant ESAD-UK 18 55972732 55972732 single base substitution C T intron_variant ESAD-UK 18 55974653 55974653 single base substitution C A intron_variant ESAD-UK 18 55975320 55975320 single base substitution A G intron_variant ESAD-UK 18 55978939 55978947 deletion of <=200bp TTGTTGTTG - intron_variant ESAD-UK 18 55978939 55978947 deletion of <=200bp TTGTTGTTG - upstream_gene_variant ESAD-UK 18 55985213 55985213 single base substitution C T downstream_gene_variant ESAD-UK 18 55985213 55985213 single base substitution C T intron_variant ESAD-UK 18 55985318 55985334 deletion of <=200bp GGCATTCTGTTTGTGTG - downstream_gene_variant ESAD-UK 18 55985318 55985334 deletion of <=200bp GGCATTCTGTTTGTGTG - intron_variant ESAD-UK 18 55986170 55986170 single base substitution A C downstream_gene_variant ESAD-UK 18 55986170 55986170 single base substitution A C intron_variant ESAD-UK 18 55986170 55986170 single base substitution A C upstream_gene_variant ESAD-UK 18 55990673 55990673 single base substitution A T downstream_gene_variant ESAD-UK 18 55990673 55990673 single base substitution A T intron_variant ESAD-UK 18 55992846 55992846 insertion of <=200bp - A downstream_gene_variant ESAD-UK 18 55992846 55992846 insertion of <=200bp - A intron_variant ESAD-UK 18 55992977 55992977 single base substitution A C downstream_gene_variant ESAD-UK 18 55992977 55992977 single base substitution A C intron_variant ESAD-UK 18 55995658 55995658 single base substitution A G downstream_gene_variant ESAD-UK 18 55995658 55995658 single base substitution A G intron_variant ESAD-UK 18 55995658 55995658 single base substitution A G upstream_gene_variant ESAD-UK 18 56000376 56000376 insertion of <=200bp - G downstream_gene_variant ESAD-UK 18 56000376 56000376 insertion of <=200bp - G intron_variant ESAD-UK 18 56002401 56002401 single base substitution C A downstream_gene_variant ESAD-UK 18 56002401 56002401 single base substitution C A intron_variant ESAD-UK 18 56004595 56004595 single base substitution T G downstream_gene_variant ESAD-UK 18 56004595 56004595 single base substitution T G intron_variant ESAD-UK 18 56004595 56004595 single base substitution T G upstream_gene_variant ESAD-UK 18 56005484 56005484 single base substitution T G downstream_gene_variant ESAD-UK 18 56005484 56005484 single base substitution T G intron_variant ESAD-UK 18 56005484 56005484 single base substitution T G upstream_gene_variant ESAD-UK 18 56005491 56005491 single base substitution G C downstream_gene_variant ESAD-UK 18 56005491 56005491 single base substitution G C intron_variant ESAD-UK 18 56005491 56005491 single base substitution G C upstream_gene_variant ESAD-UK 18 56011951 56011951 single base substitution C A intron_variant ESAD-UK 18 56012980 56012980 insertion of <=200bp - T intron_variant ESAD-UK 18 56016125 56016125 single base substitution A G intron_variant ESAD-UK 18 56016148 56016148 single base substitution A G intron_variant ESAD-UK 18 56016620 56016620 single base substitution C T intron_variant ESAD-UK 18 56021367 56021367 single base substitution C T intron_variant ESAD-UK 18 56026620 56026620 single base substitution G A intron_variant ESAD-UK 18 56026620 56026620 single base substitution G A upstream_gene_variant ESAD-UK 18 56039365 56039365 single base substitution C T intron_variant ESAD-UK 18 56039365 56039365 single base substitution C T upstream_gene_variant ESAD-UK 18 56040168 56040168 single base substitution C T intron_variant ESAD-UK 18 56040168 56040168 single base substitution C T upstream_gene_variant ESAD-UK 18 56041340 56041340 single base substitution T G downstream_gene_variant ESAD-UK 18 56041340 56041340 single base substitution T G intron_variant ESAD-UK 18 56043109 56043109 single base substitution T A downstream_gene_variant ESAD-UK 18 56043109 56043109 single base substitution T A intron_variant ESAD-UK 18 56045039 56045039 single base substitution A G downstream_gene_variant ESAD-UK 18 56045039 56045039 single base substitution A G intron_variant ESAD-UK 18 56047519 56047519 single base substitution T C intron_variant ESAD-UK 18 56051047 56051047 single base substitution A G intron_variant ESAD-UK 18 56051047 56051047 single base substitution A G upstream_gene_variant ESAD-UK 18 56051130 56051130 single base substitution A C intron_variant ESAD-UK 18 56051130 56051130 single base substitution A C upstream_gene_variant ESAD-UK 18 56056043 56056043 single base substitution G A exon_variant ESAD-UK 18 56056043 56056043 single base substitution G A intron_variant ESAD-UK 18 56056043 56056043 single base substitution G A upstream_gene_variant ESAD-UK 18 56059664 56059664 single base substitution A G downstream_gene_variant ESAD-UK 18 56059664 56059664 single base substitution A G intron_variant ESAD-UK 18 56062526 56062526 single base substitution C T downstream_gene_variant ESAD-UK 18 56062526 56062526 single base substitution C T intron_variant ESAD-UK 18 56067605 56067605 single base substitution A G 3_prime_UTR_variant ESAD-UK 18 56067605 56067605 single base substitution A G downstream_gene_variant ESCA-CN 18 56008342 56008342 single base substitution C T exon_variant ESCA-CN 18 56008342 56008342 single base substitution C T intron_variant ESCA-CN 18 56008342 56008342 single base substitution C T missense_variant R259C 775C>T ESCA-CN 18 56008342 56008342 single base substitution C T missense_variant R279C 835C>T ESCA-CN 18 56008342 56008342 single base substitution C T missense_variant R372C 1114C>T ESCA-CN 18 56008342 56008342 single base substitution C T missense_variant R380C 1138C>T ESCA-CN 18 56008342 56008342 single base substitution C T missense_variant R392C 1174C>T ESCA-CN 18 56008342 56008342 single base substitution C T missense_variant R400C 1198C>T ESCA-CN 18 56024582 56024582 single base substitution C T intron_variant ESCA-CN 18 56024582 56024582 single base substitution C T upstream_gene_variant GBM-US 18 55916158 55916158 deletion of <=200bp T - 5_prime_UTR_variant GBM-US 18 55916158 55916158 deletion of <=200bp T - downstream_gene_variant GBM-US 18 55916158 55916158 deletion of <=200bp T - exon_variant GBM-US 18 55916158 55916158 deletion of <=200bp T - frameshift_variant F70 GBM-US 18 55916158 55916158 deletion of <=200bp T - frameshift_variant F78 GBM-US 18 55916158 55916158 deletion of <=200bp T - intron_variant GBM-US 18 55992284 55992286 deletion of <=200bp TCC - downstream_gene_variant GBM-US 18 55992284 55992286 deletion of <=200bp TCC - exon_variant GBM-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP182L GBM-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP190L GBM-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP24L GBM-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP69L GBM-US 18 55992284 55992286 deletion of <=200bp TCC - intron_variant GBM-US 18 56010160 56010160 single base substitution G A exon_variant GBM-US 18 56010160 56010160 single base substitution G A intron_variant GBM-US 18 56010160 56010160 single base substitution G A missense_variant R326H 977G>A GBM-US 18 56010160 56010160 single base substitution G A missense_variant R346H 1037G>A GBM-US 18 56010160 56010160 single base substitution G A missense_variant R363H 1088G>A GBM-US 18 56010160 56010160 single base substitution G A missense_variant R403H 1208G>A GBM-US 18 56010160 56010160 single base substitution G A missense_variant R439H 1316G>A GBM-US 18 56010160 56010160 single base substitution G A missense_variant R447H 1340G>A GBM-US 18 56010160 56010160 single base substitution G A missense_variant R459H 1376G>A GBM-US 18 56010160 56010160 single base substitution G A missense_variant R467H 1400G>A KIRC-US 18 55992365 55992365 single base substitution G A downstream_gene_variant KIRC-US 18 55992365 55992365 single base substitution G A exon_variant KIRC-US 18 55992365 55992365 single base substitution G A intron_variant KIRC-US 18 55992365 55992365 single base substitution G A synonymous_variant R209R 627G>A KIRC-US 18 55992365 55992365 single base substitution G A synonymous_variant R217R 651G>A KIRC-US 18 55992365 55992365 single base substitution G A synonymous_variant R51R 153G>A KIRC-US 18 55992365 55992365 single base substitution G A synonymous_variant R96R 288G>A KIRC-US 18 56033230 56033230 single base substitution G A intron_variant KIRC-US 18 56033230 56033230 single base substitution G A splice_acceptor_variant KIRC-US 18 56033230 56033230 single base substitution G A upstream_gene_variant KIRP-US 18 56033337 56033337 single base substitution G C downstream_gene_variant KIRP-US 18 56033337 56033337 single base substitution G C exon_variant KIRP-US 18 56033337 56033337 single base substitution G C intron_variant KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R311T 932G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R506T 1517G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R507T 1520G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R526T 1577G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R543T 1628G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R583T 1748G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R619T 1856G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R627T 1880G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R639T 1916G>C KIRP-US 18 56033337 56033337 single base substitution G C missense_variant R647T 1940G>C KIRP-US 18 56033337 56033337 single base substitution G C upstream_gene_variant LAML-KR 18 55717493 55717493 single base substitution C T intron_variant LAML-KR 18 55717493 55717493 single base substitution C T upstream_gene_variant LAML-KR 18 55797409 55797409 single base substitution C T intron_variant LAML-KR 18 55797663 55797663 single base substitution T G intron_variant LAML-KR 18 55798249 55798249 single base substitution A T intron_variant LAML-KR 18 55798388 55798388 single base substitution G A intron_variant LAML-KR 18 55798439 55798439 single base substitution C T intron_variant LAML-KR 18 55798654 55798654 single base substitution C G intron_variant LAML-KR 18 55798714 55798714 single base substitution C T intron_variant LAML-KR 18 55798886 55798886 single base substitution A G intron_variant LAML-KR 18 55798895 55798895 single base substitution A G intron_variant LAML-KR 18 55838592 55838592 single base substitution G A intron_variant LAML-KR 18 55958316 55958316 single base substitution G A intron_variant LAML-KR 18 55958384 55958384 single base substitution G A intron_variant LAML-KR 18 55983218 55983218 single base substitution G A 5_prime_UTR_variant LAML-KR 18 55983218 55983218 single base substitution G A exon_variant LAML-KR 18 55983218 55983218 single base substitution G A intron_variant LAML-KR 18 55983218 55983218 single base substitution G A missense_variant R101Q 302G>A LAML-KR 18 55983218 55983218 single base substitution G A missense_variant R93Q 278G>A LAML-KR 18 55989937 55989937 single base substitution A G downstream_gene_variant LAML-KR 18 55989937 55989937 single base substitution A G intron_variant LAML-KR 18 55989937 55989937 single base substitution A G upstream_gene_variant LAML-KR 18 55990333 55990333 single base substitution T C downstream_gene_variant LAML-KR 18 55990333 55990333 single base substitution T C intron_variant LAML-KR 18 55990333 55990333 single base substitution T C upstream_gene_variant LAML-KR 18 56014453 56014453 single base substitution C A intron_variant LAML-KR 18 56024582 56024582 single base substitution C T intron_variant LAML-KR 18 56024582 56024582 single base substitution C T upstream_gene_variant LAML-KR 18 56056156 56056156 single base substitution T G exon_variant LAML-KR 18 56056156 56056156 single base substitution T G intron_variant LAML-KR 18 56056156 56056156 single base substitution T G upstream_gene_variant LAML-KR 18 56069340 56069340 single base substitution G A downstream_gene_variant LGG-US 18 55912729 55912729 single base substitution A G 5_prime_UTR_variant LGG-US 18 55912729 55912729 single base substitution A G downstream_gene_variant LGG-US 18 55912729 55912729 single base substitution A G exon_variant LGG-US 18 55912729 55912729 single base substitution A G intron_variant LGG-US 18 55912729 55912729 single base substitution A G missense_variant T57A 169A>G LGG-US 18 55912729 55912729 single base substitution A G missense_variant T65A 193A>G LGG-US 18 55912729 55912729 single base substitution A G upstream_gene_variant LGG-US 18 56008358 56008358 single base substitution A G exon_variant LGG-US 18 56008358 56008358 single base substitution A G intron_variant LGG-US 18 56008358 56008358 single base substitution A G missense_variant N264S 791A>G LGG-US 18 56008358 56008358 single base substitution A G missense_variant N284S 851A>G LGG-US 18 56008358 56008358 single base substitution A G missense_variant N377S 1130A>G LGG-US 18 56008358 56008358 single base substitution A G missense_variant N385S 1154A>G LGG-US 18 56008358 56008358 single base substitution A G missense_variant N397S 1190A>G LGG-US 18 56008358 56008358 single base substitution A G missense_variant N405S 1214A>G LICA-FR 18 55713613 55713613 single base substitution G T exon_variant LICA-FR 18 55713613 55713613 single base substitution G T intron_variant LICA-FR 18 55713613 55713613 single base substitution G T upstream_gene_variant LICA-FR 18 55824259 55824259 insertion of <=200bp - A intron_variant LICA-FR 18 55825245 55825245 single base substitution G A intron_variant LICA-FR 18 55831268 55831268 deletion of <=200bp T - intron_variant LICA-FR 18 55853376 55853376 single base substitution A G intron_variant LICA-FR 18 55880549 55880549 single base substitution G C intron_variant LICA-FR 18 55882033 55882034 deletion of <=200bp TT - intron_variant LICA-FR 18 55941398 55941398 single base substitution G A intron_variant LICA-FR 18 55949751 55949751 single base substitution A T intron_variant LICA-FR 18 55959329 55959329 single base substitution C T intron_variant LICA-FR 18 55979711 55979711 single base substitution G A intron_variant LICA-FR 18 55979711 55979711 single base substitution G A upstream_gene_variant LICA-FR 18 56008299 56008299 single base substitution G A downstream_gene_variant LICA-FR 18 56008299 56008299 single base substitution G A exon_variant LICA-FR 18 56008299 56008299 single base substitution G A intron_variant LICA-FR 18 56008299 56008299 single base substitution G A synonymous_variant P244P 732G>A LICA-FR 18 56008299 56008299 single base substitution G A synonymous_variant P264P 792G>A LICA-FR 18 56008299 56008299 single base substitution G A synonymous_variant P357P 1071G>A LICA-FR 18 56008299 56008299 single base substitution G A synonymous_variant P365P 1095G>A LICA-FR 18 56008299 56008299 single base substitution G A synonymous_variant P377P 1131G>A LICA-FR 18 56008299 56008299 single base substitution G A synonymous_variant P385P 1155G>A LICA-FR 18 56014282 56014282 single base substitution T G intron_variant LICA-FR 18 56014776 56014776 single base substitution T G intron_variant LICA-FR 18 56040950 56040950 single base substitution G T downstream_gene_variant LICA-FR 18 56040950 56040950 single base substitution G T intron_variant LICA-FR 18 56065768 56065768 single base substitution A T 3_prime_UTR_variant LICA-FR 18 56065768 56065768 single base substitution A T downstream_gene_variant LIHC-US 18 55996342 55996342 single base substitution G C downstream_gene_variant LIHC-US 18 55996342 55996342 single base substitution G C exon_variant LIHC-US 18 55996342 55996342 single base substitution G C intron_variant LIHC-US 18 55996342 55996342 single base substitution G C missense_variant G100R 298G>C LIHC-US 18 55996342 55996342 single base substitution G C missense_variant G145R 433G>C LIHC-US 18 55996342 55996342 single base substitution G C missense_variant G258R 772G>C LIHC-US 18 55996342 55996342 single base substitution G C missense_variant G266R 796G>C LIHC-US 18 55996342 55996342 single base substitution G C upstream_gene_variant LIHC-US 18 56002763 56002763 single base substitution A G downstream_gene_variant LIHC-US 18 56002763 56002763 single base substitution A G exon_variant LIHC-US 18 56002763 56002763 single base substitution A G intron_variant LIHC-US 18 56002763 56002763 single base substitution A G synonymous_variant E252E 756A>G LIHC-US 18 56002763 56002763 single base substitution A G synonymous_variant E365E 1095A>G LIHC-US 18 56002763 56002763 single base substitution A G synonymous_variant E373E 1119A>G LIHC-US 18 56033299 56033299 single base substitution A G exon_variant LIHC-US 18 56033299 56033299 single base substitution A G intron_variant LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R298R 894A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R493R 1479A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R494R 1482A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R513R 1539A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R530R 1590A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R570R 1710A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R606R 1818A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R614R 1842A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R626R 1878A>G LIHC-US 18 56033299 56033299 single base substitution A G synonymous_variant R634R 1902A>G LIHC-US 18 56033299 56033299 single base substitution A G upstream_gene_variant LINC-JP 18 55707775 55707775 single base substitution A G upstream_gene_variant LINC-JP 18 55712110 55712110 single base substitution A C intron_variant LINC-JP 18 55712110 55712110 single base substitution A C upstream_gene_variant LINC-JP 18 55717609 55717609 single base substitution G A intron_variant LINC-JP 18 55717609 55717609 single base substitution G A upstream_gene_variant LINC-JP 18 55727384 55727384 single base substitution T G intron_variant LINC-JP 18 55745081 55745081 single base substitution C T intron_variant LINC-JP 18 55753625 55753625 single base substitution T G intron_variant LINC-JP 18 55753625 55753625 single base substitution T G upstream_gene_variant LINC-JP 18 55764877 55764877 single base substitution C T intron_variant LINC-JP 18 55768018 55768018 single base substitution A C intron_variant LINC-JP 18 55773138 55773138 single base substitution A G intron_variant LINC-JP 18 55797214 55797214 single base substitution C A intron_variant LINC-JP 18 55802096 55802096 single base substitution A G intron_variant LINC-JP 18 55815410 55815410 single base substitution C T intron_variant LINC-JP 18 55815410 55815410 single base substitution C T upstream_gene_variant LINC-JP 18 55833057 55833057 single base substitution G T 5_prime_UTR_variant LINC-JP 18 55833057 55833057 single base substitution G T exon_variant LINC-JP 18 55833057 55833057 single base substitution G T intron_variant LINC-JP 18 55833057 55833057 single base substitution G T missense_variant G21V 62G>T LINC-JP 18 55833057 55833057 single base substitution G T missense_variant G29V 86G>T LINC-JP 18 55861589 55861589 single base substitution T A intron_variant LINC-JP 18 55861589 55861589 single base substitution T A upstream_gene_variant LINC-JP 18 55895503 55895503 single base substitution T C intron_variant LINC-JP 18 55897405 55897405 single base substitution G T intron_variant LINC-JP 18 55918436 55918436 single base substitution A G intron_variant LINC-JP 18 55921237 55921237 single base substitution C T intron_variant LINC-JP 18 55934956 55934956 single base substitution G A intron_variant LINC-JP 18 55947457 55947457 single base substitution T G intron_variant LINC-JP 18 55948541 55948541 insertion of <=200bp - T intron_variant LINC-JP 18 55951984 55951984 single base substitution G A intron_variant LINC-JP 18 55960126 55960126 single base substitution C G intron_variant LINC-JP 18 55976929 55976929 deletion of <=200bp A - intron_variant LINC-JP 18 55976929 55976929 deletion of <=200bp A - upstream_gene_variant LINC-JP 18 55984194 55984204 deletion of <=200bp TTTATTTAAAG - downstream_gene_variant LINC-JP 18 55984194 55984204 deletion of <=200bp TTTATTTAAAG - intron_variant LINC-JP 18 55984206 55984213 deletion of <=200bp TATTTAAA - downstream_gene_variant LINC-JP 18 55984206 55984213 deletion of <=200bp TATTTAAA - intron_variant LINC-JP 18 55990401 55990401 single base substitution C T downstream_gene_variant LINC-JP 18 55990401 55990401 single base substitution C T intron_variant LINC-JP 18 55990401 55990401 single base substitution C T upstream_gene_variant LINC-JP 18 55992330 55992330 single base substitution T A downstream_gene_variant LINC-JP 18 55992330 55992330 single base substitution T A exon_variant LINC-JP 18 55992330 55992330 single base substitution T A intron_variant LINC-JP 18 55992330 55992330 single base substitution T A missense_variant L198I 592T>A LINC-JP 18 55992330 55992330 single base substitution T A missense_variant L206I 616T>A LINC-JP 18 55992330 55992330 single base substitution T A missense_variant L40I 118T>A LINC-JP 18 55992330 55992330 single base substitution T A missense_variant L85I 253T>A LINC-JP 18 55997920 55997920 single base substitution G T downstream_gene_variant LINC-JP 18 55997920 55997920 single base substitution G T intron_variant LINC-JP 18 55997920 55997920 single base substitution G T upstream_gene_variant LINC-JP 18 56001009 56001009 single base substitution A G downstream_gene_variant LINC-JP 18 56001009 56001009 single base substitution A G intron_variant LINC-JP 18 56002699 56002699 single base substitution A G downstream_gene_variant LINC-JP 18 56002699 56002699 single base substitution A G intron_variant LINC-JP 18 56003197 56003197 single base substitution A G downstream_gene_variant LINC-JP 18 56003197 56003197 single base substitution A G exon_variant LINC-JP 18 56003197 56003197 single base substitution A G intron_variant LINC-JP 18 56003197 56003197 single base substitution A G upstream_gene_variant LINC-JP 18 56011952 56011952 insertion of <=200bp - T intron_variant LINC-JP 18 56032189 56032189 single base substitution G A intron_variant LINC-JP 18 56032189 56032189 single base substitution G A upstream_gene_variant LINC-JP 18 56045441 56045441 single base substitution A G downstream_gene_variant LINC-JP 18 56045441 56045441 single base substitution A G intron_variant LINC-JP 18 56051794 56051794 single base substitution T A intron_variant LINC-JP 18 56051794 56051794 single base substitution T A upstream_gene_variant LINC-JP 18 56056947 56056947 single base substitution G T downstream_gene_variant LINC-JP 18 56056947 56056947 single base substitution G T intron_variant LINC-JP 18 56056947 56056947 single base substitution G T upstream_gene_variant LINC-JP 18 56057079 56057079 single base substitution A T downstream_gene_variant LINC-JP 18 56057079 56057079 single base substitution A T intron_variant LINC-JP 18 56057079 56057079 single base substitution A T upstream_gene_variant LINC-JP 18 56058642 56058642 single base substitution C G downstream_gene_variant LINC-JP 18 56058642 56058642 single base substitution C G intron_variant LINC-JP 18 56059801 56059801 single base substitution T C downstream_gene_variant LINC-JP 18 56059801 56059801 single base substitution T C intron_variant LIRI-JP 18 55708035 55708035 single base substitution G A upstream_gene_variant LIRI-JP 18 55709173 55709173 single base substitution G C upstream_gene_variant LIRI-JP 18 55713292 55713292 single base substitution T G intron_variant LIRI-JP 18 55713292 55713292 single base substitution T G upstream_gene_variant LIRI-JP 18 55714083 55714083 single base substitution A G exon_variant LIRI-JP 18 55714083 55714083 single base substitution A G intron_variant LIRI-JP 18 55714083 55714083 single base substitution A G upstream_gene_variant LIRI-JP 18 55714207 55714207 insertion of <=200bp - GG exon_variant LIRI-JP 18 55714207 55714207 insertion of <=200bp - GG intron_variant LIRI-JP 18 55714207 55714207 insertion of <=200bp - GG upstream_gene_variant LIRI-JP 18 55716108 55716111 deletion of <=200bp TCTA - intron_variant LIRI-JP 18 55717581 55717581 single base substitution A G intron_variant LIRI-JP 18 55717581 55717581 single base substitution A G upstream_gene_variant LIRI-JP 18 55719995 55719995 single base substitution C T intron_variant LIRI-JP 18 55719995 55719995 single base substitution C T upstream_gene_variant LIRI-JP 18 55722694 55722694 single base substitution A G intron_variant LIRI-JP 18 55722778 55722778 single base substitution A G intron_variant LIRI-JP 18 55725470 55725470 single base substitution G A intron_variant LIRI-JP 18 55728456 55728456 single base substitution A G intron_variant LIRI-JP 18 55731354 55731354 single base substitution G A intron_variant LIRI-JP 18 55732368 55732368 single base substitution T G intron_variant LIRI-JP 18 55733698 55733698 single base substitution C T intron_variant LIRI-JP 18 55733892 55733892 single base substitution G A intron_variant LIRI-JP 18 55734455 55734455 single base substitution T C intron_variant LIRI-JP 18 55736548 55736548 single base substitution A C intron_variant LIRI-JP 18 55736988 55736988 single base substitution T C intron_variant LIRI-JP 18 55739681 55739681 single base substitution T A intron_variant LIRI-JP 18 55743122 55743122 single base substitution C T intron_variant LIRI-JP 18 55743163 55743163 single base substitution G A intron_variant LIRI-JP 18 55743541 55743541 single base substitution C G intron_variant LIRI-JP 18 55743840 55743840 single base substitution G A intron_variant LIRI-JP 18 55745124 55745124 single base substitution C T intron_variant LIRI-JP 18 55746820 55746820 single base substitution A G intron_variant LIRI-JP 18 55750105 55750105 single base substitution A G intron_variant LIRI-JP 18 55750395 55750395 single base substitution A T intron_variant LIRI-JP 18 55750590 55750590 single base substitution A C intron_variant LIRI-JP 18 55750941 55750941 insertion of <=200bp - AA intron_variant LIRI-JP 18 55753261 55753261 single base substitution T C intron_variant LIRI-JP 18 55753261 55753261 single base substitution T C upstream_gene_variant LIRI-JP 18 55755954 55755954 single base substitution A C intron_variant LIRI-JP 18 55755954 55755954 single base substitution A C upstream_gene_variant LIRI-JP 18 55756111 55756111 single base substitution T A intron_variant LIRI-JP 18 55756111 55756111 single base substitution T A upstream_gene_variant LIRI-JP 18 55760732 55760732 single base substitution G C intron_variant LIRI-JP 18 55767470 55767470 single base substitution A G intron_variant LIRI-JP 18 55769155 55769155 single base substitution A G intron_variant LIRI-JP 18 55769383 55769383 single base substitution C G intron_variant LIRI-JP 18 55772389 55772389 single base substitution A T intron_variant LIRI-JP 18 55773809 55773809 single base substitution C T intron_variant LIRI-JP 18 55778178 55778178 single base substitution C G intron_variant LIRI-JP 18 55779868 55779868 single base substitution G A intron_variant LIRI-JP 18 55781163 55781163 single base substitution C T intron_variant LIRI-JP 18 55783511 55783511 single base substitution A G intron_variant LIRI-JP 18 55784433 55784433 single base substitution T C intron_variant LIRI-JP 18 55786483 55786483 single base substitution G T intron_variant LIRI-JP 18 55786909 55786909 single base substitution G T intron_variant LIRI-JP 18 55787570 55787570 single base substitution G A intron_variant LIRI-JP 18 55787859 55787859 single base substitution A G intron_variant LIRI-JP 18 55788532 55788532 single base substitution G T intron_variant LIRI-JP 18 55790631 55790631 single base substitution G T intron_variant LIRI-JP 18 55794275 55794275 single base substitution G A intron_variant LIRI-JP 18 55796112 55796112 single base substitution A C intron_variant LIRI-JP 18 55801048 55801048 single base substitution G T intron_variant LIRI-JP 18 55802731 55802731 single base substitution G A intron_variant LIRI-JP 18 55802746 55802746 single base substitution G T intron_variant LIRI-JP 18 55803768 55803768 single base substitution A T intron_variant LIRI-JP 18 55805048 55805048 single base substitution G A intron_variant LIRI-JP 18 55806664 55806664 single base substitution A G intron_variant LIRI-JP 18 55811161 55811161 single base substitution A T intron_variant LIRI-JP 18 55811283 55811283 single base substitution A G intron_variant LIRI-JP 18 55811291 55811291 single base substitution A C intron_variant LIRI-JP 18 55813439 55813439 single base substitution C T intron_variant LIRI-JP 18 55813439 55813439 single base substitution C T upstream_gene_variant LIRI-JP 18 55814325 55814325 single base substitution A G intron_variant LIRI-JP 18 55814325 55814325 single base substitution A G upstream_gene_variant LIRI-JP 18 55815184 55815184 single base substitution A C intron_variant LIRI-JP 18 55815184 55815184 single base substitution A C upstream_gene_variant LIRI-JP 18 55815685 55815685 single base substitution A G intron_variant LIRI-JP 18 55815685 55815685 single base substitution A G upstream_gene_variant LIRI-JP 18 55817616 55817616 single base substitution G A intron_variant LIRI-JP 18 55819879 55819879 single base substitution G A intron_variant LIRI-JP 18 55820382 55820382 single base substitution A G intron_variant LIRI-JP 18 55820772 55820772 single base substitution A G intron_variant LIRI-JP 18 55821229 55821229 single base substitution A G intron_variant LIRI-JP 18 55823402 55823402 single base substitution C T intron_variant LIRI-JP 18 55823405 55823405 single base substitution C T intron_variant LIRI-JP 18 55826989 55826989 single base substitution C T intron_variant LIRI-JP 18 55827224 55827224 single base substitution G A intron_variant LIRI-JP 18 55828944 55828944 single base substitution G A intron_variant LIRI-JP 18 55830079 55830079 single base substitution T C intron_variant LIRI-JP 18 55830631 55830631 single base substitution C A intron_variant LIRI-JP 18 55832458 55832458 single base substitution A T intron_variant LIRI-JP 18 55832690 55832690 single base substitution A G intron_variant LIRI-JP 18 55834240 55834240 single base substitution C T downstream_gene_variant LIRI-JP 18 55834240 55834240 single base substitution C T intron_variant LIRI-JP 18 55834670 55834670 single base substitution C G downstream_gene_variant LIRI-JP 18 55834670 55834670 single base substitution C G intron_variant LIRI-JP 18 55837423 55837423 deletion of <=200bp T - downstream_gene_variant LIRI-JP 18 55837423 55837423 deletion of <=200bp T - intron_variant LIRI-JP 18 55840136 55840136 single base substitution G A intron_variant LIRI-JP 18 55840324 55840324 insertion of <=200bp - TGTTCAAAT intron_variant LIRI-JP 18 55843137 55843137 single base substitution C T intron_variant LIRI-JP 18 55845213 55845213 single base substitution A G intron_variant LIRI-JP 18 55846760 55846760 single base substitution G C intron_variant LIRI-JP 18 55848239 55848239 single base substitution G T intron_variant LIRI-JP 18 55849735 55849735 single base substitution T A intron_variant LIRI-JP 18 55850934 55850936 deletion of <=200bp TCA - intron_variant LIRI-JP 18 55852287 55852287 single base substitution G A intron_variant LIRI-JP 18 55854965 55854965 single base substitution C G intron_variant LIRI-JP 18 55863500 55863500 single base substitution G A intron_variant LIRI-JP 18 55863500 55863500 single base substitution G A upstream_gene_variant LIRI-JP 18 55865437 55865437 single base substitution A G intron_variant LIRI-JP 18 55865770 55865770 insertion of <=200bp - G intron_variant LIRI-JP 18 55868077 55868077 single base substitution A G intron_variant LIRI-JP 18 55868156 55868156 single base substitution A T intron_variant LIRI-JP 18 55871612 55871612 single base substitution G A intron_variant LIRI-JP 18 55871900 55871900 single base substitution A G intron_variant LIRI-JP 18 55872624 55872624 single base substitution A G intron_variant LIRI-JP 18 55875261 55875261 single base substitution T C intron_variant LIRI-JP 18 55875742 55875742 single base substitution C T intron_variant LIRI-JP 18 55878564 55878564 single base substitution A G intron_variant LIRI-JP 18 55878975 55878975 single base substitution A G intron_variant LIRI-JP 18 55885544 55885544 single base substitution A G intron_variant LIRI-JP 18 55885544 55885544 single base substitution A G upstream_gene_variant LIRI-JP 18 55890695 55890695 single base substitution T C intron_variant LIRI-JP 18 55891197 55891197 single base substitution G A intron_variant LIRI-JP 18 55895726 55895726 single base substitution A G intron_variant LIRI-JP 18 55897518 55897518 single base substitution T C intron_variant LIRI-JP 18 55898401 55898401 single base substitution G C intron_variant LIRI-JP 18 55902272 55902272 single base substitution T G intron_variant LIRI-JP 18 55902631 55902631 single base substitution G A intron_variant LIRI-JP 18 55903021 55903021 deletion of <=200bp C - intron_variant LIRI-JP 18 55907678 55907678 single base substitution G T intron_variant LIRI-JP 18 55908326 55908326 single base substitution G A intron_variant LIRI-JP 18 55911329 55911329 single base substitution A G intron_variant LIRI-JP 18 55911329 55911329 single base substitution A G upstream_gene_variant LIRI-JP 18 55911700 55911700 single base substitution T A intron_variant LIRI-JP 18 55911700 55911700 single base substitution T A upstream_gene_variant LIRI-JP 18 55913458 55913458 single base substitution T G downstream_gene_variant LIRI-JP 18 55913458 55913458 single base substitution T G intron_variant LIRI-JP 18 55913458 55913458 single base substitution T G upstream_gene_variant LIRI-JP 18 55914922 55914922 single base substitution T C downstream_gene_variant LIRI-JP 18 55914922 55914922 single base substitution T C intron_variant LIRI-JP 18 55915324 55915324 deletion of <=200bp G - downstream_gene_variant LIRI-JP 18 55915324 55915324 deletion of <=200bp G - intron_variant LIRI-JP 18 55915862 55915862 single base substitution T C downstream_gene_variant LIRI-JP 18 55915862 55915862 single base substitution T C intron_variant LIRI-JP 18 55916407 55916407 single base substitution C A downstream_gene_variant LIRI-JP 18 55916407 55916407 single base substitution C A intron_variant LIRI-JP 18 55918118 55918118 single base substitution A G intron_variant LIRI-JP 18 55919558 55919558 single base substitution A G intron_variant LIRI-JP 18 55920011 55920011 single base substitution T C intron_variant LIRI-JP 18 55921201 55921201 insertion of <=200bp - T intron_variant LIRI-JP 18 55927080 55927080 single base substitution G C intron_variant LIRI-JP 18 55929194 55929194 single base substitution A G intron_variant LIRI-JP 18 55933806 55933806 single base substitution A T intron_variant LIRI-JP 18 55942237 55942237 single base substitution A G intron_variant LIRI-JP 18 55945115 55945115 single base substitution G A intron_variant LIRI-JP 18 55946040 55946040 single base substitution A T intron_variant LIRI-JP 18 55949175 55949175 single base substitution T G intron_variant LIRI-JP 18 55950277 55950277 single base substitution A G intron_variant LIRI-JP 18 55951356 55951356 single base substitution C A intron_variant LIRI-JP 18 55953502 55953502 single base substitution T G intron_variant LIRI-JP 18 55954086 55954086 single base substitution A T intron_variant LIRI-JP 18 55954679 55954679 single base substitution A G intron_variant LIRI-JP 18 55956666 55956666 single base substitution C T intron_variant LIRI-JP 18 55959073 55959073 single base substitution T A intron_variant LIRI-JP 18 55959086 55959086 single base substitution C T intron_variant LIRI-JP 18 55959372 55959372 insertion of <=200bp - AGGAGGG intron_variant LIRI-JP 18 55962858 55962858 single base substitution A G intron_variant LIRI-JP 18 55965597 55965597 single base substitution A G intron_variant LIRI-JP 18 55968535 55968535 single base substitution A G intron_variant LIRI-JP 18 55968682 55968682 single base substitution G A intron_variant LIRI-JP 18 55969473 55969473 single base substitution G A intron_variant LIRI-JP 18 55970288 55970288 single base substitution G A intron_variant LIRI-JP 18 55970652 55970652 single base substitution G C intron_variant LIRI-JP 18 55970661 55970661 single base substitution A G intron_variant LIRI-JP 18 55971191 55971191 single base substitution A G intron_variant LIRI-JP 18 55973434 55973434 single base substitution C T intron_variant LIRI-JP 18 55973612 55973612 single base substitution A G intron_variant LIRI-JP 18 55974427 55974427 single base substitution G T intron_variant LIRI-JP 18 55974690 55974690 single base substitution A G intron_variant LIRI-JP 18 55975942 55975942 single base substitution A T intron_variant LIRI-JP 18 55977798 55977798 single base substitution G A intron_variant LIRI-JP 18 55977798 55977798 single base substitution G A upstream_gene_variant LIRI-JP 18 55981796 55981796 single base substitution A C exon_variant LIRI-JP 18 55981796 55981796 single base substitution A C intron_variant LIRI-JP 18 55983447 55983447 single base substitution G C downstream_gene_variant LIRI-JP 18 55983447 55983447 single base substitution G C intron_variant LIRI-JP 18 55983735 55983735 single base substitution C G downstream_gene_variant LIRI-JP 18 55983735 55983735 single base substitution C G intron_variant LIRI-JP 18 55984658 55984658 single base substitution G C downstream_gene_variant LIRI-JP 18 55984658 55984658 single base substitution G C intron_variant LIRI-JP 18 55984663 55984663 single base substitution G C downstream_gene_variant LIRI-JP 18 55984663 55984663 single base substitution G C intron_variant LIRI-JP 18 55986412 55986412 single base substitution A G downstream_gene_variant LIRI-JP 18 55986412 55986412 single base substitution A G intron_variant LIRI-JP 18 55986412 55986412 single base substitution A G upstream_gene_variant LIRI-JP 18 55987728 55987728 single base substitution G C downstream_gene_variant LIRI-JP 18 55987728 55987728 single base substitution G C intron_variant LIRI-JP 18 55987728 55987728 single base substitution G C upstream_gene_variant LIRI-JP 18 55987805 55987805 single base substitution G A downstream_gene_variant LIRI-JP 18 55987805 55987805 single base substitution G A intron_variant LIRI-JP 18 55987805 55987805 single base substitution G A upstream_gene_variant LIRI-JP 18 55988218 55988218 single base substitution A G downstream_gene_variant LIRI-JP 18 55988218 55988218 single base substitution A G intron_variant LIRI-JP 18 55988218 55988218 single base substitution A G upstream_gene_variant LIRI-JP 18 55990774 55990774 single base substitution G A downstream_gene_variant LIRI-JP 18 55990774 55990774 single base substitution G A intron_variant LIRI-JP 18 55991882 55991882 single base substitution C G downstream_gene_variant LIRI-JP 18 55991882 55991882 single base substitution C G intron_variant LIRI-JP 18 55992327 55992327 single base substitution A G downstream_gene_variant LIRI-JP 18 55992327 55992327 single base substitution A G exon_variant LIRI-JP 18 55992327 55992327 single base substitution A G intron_variant LIRI-JP 18 55992327 55992327 single base substitution A G missense_variant N197D 589A>G LIRI-JP 18 55992327 55992327 single base substitution A G missense_variant N205D 613A>G LIRI-JP 18 55992327 55992327 single base substitution A G missense_variant N39D 115A>G LIRI-JP 18 55992327 55992327 single base substitution A G missense_variant N84D 250A>G LIRI-JP 18 55992449 55992449 single base substitution C T downstream_gene_variant LIRI-JP 18 55992449 55992449 single base substitution C T intron_variant LIRI-JP 18 55993138 55993138 single base substitution A G downstream_gene_variant LIRI-JP 18 55993138 55993138 single base substitution A G intron_variant LIRI-JP 18 55993138 55993138 single base substitution A G upstream_gene_variant LIRI-JP 18 55995827 55995827 single base substitution G A downstream_gene_variant LIRI-JP 18 55995827 55995827 single base substitution G A intron_variant LIRI-JP 18 55995827 55995827 single base substitution G A upstream_gene_variant LIRI-JP 18 55995960 55995960 single base substitution T C downstream_gene_variant LIRI-JP 18 55995960 55995960 single base substitution T C intron_variant LIRI-JP 18 55995960 55995960 single base substitution T C upstream_gene_variant LIRI-JP 18 55996483 55996483 single base substitution G T downstream_gene_variant LIRI-JP 18 55996483 55996483 single base substitution G T intron_variant LIRI-JP 18 55996483 55996483 single base substitution G T upstream_gene_variant LIRI-JP 18 55998592 55998592 single base substitution C T downstream_gene_variant LIRI-JP 18 55998592 55998592 single base substitution C T intron_variant LIRI-JP 18 55998896 55998896 single base substitution T C downstream_gene_variant LIRI-JP 18 55998896 55998896 single base substitution T C intron_variant LIRI-JP 18 56001084 56001084 single base substitution G A downstream_gene_variant LIRI-JP 18 56001084 56001084 single base substitution G A exon_variant LIRI-JP 18 56001084 56001084 single base substitution G A intron_variant LIRI-JP 18 56001084 56001084 single base substitution G A missense_variant S176N 527G>A LIRI-JP 18 56001084 56001084 single base substitution G A missense_variant S221N 662G>A LIRI-JP 18 56001084 56001084 single base substitution G A missense_variant S334N 1001G>A LIRI-JP 18 56001084 56001084 single base substitution G A missense_variant S342N 1025G>A LIRI-JP 18 56001486 56001486 single base substitution C T downstream_gene_variant LIRI-JP 18 56001486 56001486 single base substitution C T intron_variant LIRI-JP 18 56002260 56002260 single base substitution A G downstream_gene_variant LIRI-JP 18 56002260 56002260 single base substitution A G intron_variant LIRI-JP 18 56003062 56003062 deletion of <=200bp C - downstream_gene_variant LIRI-JP 18 56003062 56003062 deletion of <=200bp C - exon_variant LIRI-JP 18 56003062 56003062 deletion of <=200bp C - intron_variant LIRI-JP 18 56004710 56004710 single base substitution G C downstream_gene_variant LIRI-JP 18 56004710 56004710 single base substitution G C intron_variant LIRI-JP 18 56004710 56004710 single base substitution G C upstream_gene_variant LIRI-JP 18 56005385 56005385 single base substitution G T downstream_gene_variant LIRI-JP 18 56005385 56005385 single base substitution G T intron_variant LIRI-JP 18 56005385 56005385 single base substitution G T upstream_gene_variant LIRI-JP 18 56005770 56005770 single base substitution A G downstream_gene_variant LIRI-JP 18 56005770 56005770 single base substitution A G intron_variant LIRI-JP 18 56005770 56005770 single base substitution A G upstream_gene_variant LIRI-JP 18 56005933 56005933 single base substitution A C downstream_gene_variant LIRI-JP 18 56005933 56005933 single base substitution A C intron_variant LIRI-JP 18 56005933 56005933 single base substitution A C upstream_gene_variant LIRI-JP 18 56008828 56008830 deletion of <=200bp GTT - intron_variant LIRI-JP 18 56009305 56009305 single base substitution T A intron_variant LIRI-JP 18 56010678 56010678 single base substitution A G intron_variant LIRI-JP 18 56014069 56014069 single base substitution A G intron_variant LIRI-JP 18 56015601 56015601 single base substitution T C intron_variant LIRI-JP 18 56017581 56017581 single base substitution C T intron_variant LIRI-JP 18 56018320 56018320 single base substitution A T intron_variant LIRI-JP 18 56019785 56019785 single base substitution G T intron_variant LIRI-JP 18 56020439 56020439 single base substitution A G intron_variant LIRI-JP 18 56021231 56021231 single base substitution G C intron_variant LIRI-JP 18 56022833 56022833 single base substitution C T intron_variant LIRI-JP 18 56022833 56022833 single base substitution C T upstream_gene_variant LIRI-JP 18 56024036 56024036 single base substitution G T intron_variant LIRI-JP 18 56024036 56024036 single base substitution G T upstream_gene_variant LIRI-JP 18 56024678 56024678 single base substitution G C intron_variant LIRI-JP 18 56024678 56024678 single base substitution G C upstream_gene_variant LIRI-JP 18 56029912 56029912 single base substitution T A intron_variant LIRI-JP 18 56029912 56029912 single base substitution T A upstream_gene_variant LIRI-JP 18 56033285 56033285 single base substitution G C exon_variant LIRI-JP 18 56033285 56033285 single base substitution G C intron_variant LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E294Q 880G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E489Q 1465G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E490Q 1468G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E509Q 1525G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E526Q 1576G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E566Q 1696G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E602Q 1804G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E610Q 1828G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E622Q 1864G>C LIRI-JP 18 56033285 56033285 single base substitution G C missense_variant E630Q 1888G>C LIRI-JP 18 56033285 56033285 single base substitution G C upstream_gene_variant LIRI-JP 18 56033652 56033652 single base substitution G C downstream_gene_variant LIRI-JP 18 56033652 56033652 single base substitution G C intron_variant LIRI-JP 18 56033652 56033652 single base substitution G C upstream_gene_variant LIRI-JP 18 56034335 56034335 single base substitution T C downstream_gene_variant LIRI-JP 18 56034335 56034335 single base substitution T C intron_variant LIRI-JP 18 56038768 56038768 single base substitution G A intron_variant LIRI-JP 18 56038768 56038768 single base substitution G A upstream_gene_variant LIRI-JP 18 56039209 56039209 single base substitution T C intron_variant LIRI-JP 18 56039209 56039209 single base substitution T C upstream_gene_variant LIRI-JP 18 56042893 56042893 single base substitution A T downstream_gene_variant LIRI-JP 18 56042893 56042893 single base substitution A T intron_variant LIRI-JP 18 56044176 56044176 single base substitution T C downstream_gene_variant LIRI-JP 18 56044176 56044176 single base substitution T C intron_variant LIRI-JP 18 56044583 56044583 single base substitution G T downstream_gene_variant LIRI-JP 18 56044583 56044583 single base substitution G T intron_variant LIRI-JP 18 56049620 56049621 deletion of <=200bp TA - intron_variant LIRI-JP 18 56052247 56052247 single base substitution A T intron_variant LIRI-JP 18 56052247 56052247 single base substitution A T upstream_gene_variant LIRI-JP 18 56052255 56052255 single base substitution T G intron_variant LIRI-JP 18 56052255 56052255 single base substitution T G upstream_gene_variant LIRI-JP 18 56056597 56056597 single base substitution C T exon_variant LIRI-JP 18 56056597 56056597 single base substitution C T intron_variant LIRI-JP 18 56056597 56056597 single base substitution C T upstream_gene_variant LIRI-JP 18 56056814 56056814 single base substitution T C downstream_gene_variant LIRI-JP 18 56056814 56056814 single base substitution T C intron_variant LIRI-JP 18 56056814 56056814 single base substitution T C upstream_gene_variant LIRI-JP 18 56058014 56058014 single base substitution A G downstream_gene_variant LIRI-JP 18 56058014 56058014 single base substitution A G intron_variant LIRI-JP 18 56058071 56058071 single base substitution G T downstream_gene_variant LIRI-JP 18 56058071 56058071 single base substitution G T intron_variant LIRI-JP 18 56061597 56061597 single base substitution C T downstream_gene_variant LIRI-JP 18 56061597 56061597 single base substitution C T intron_variant LIRI-JP 18 56062712 56062712 single base substitution T G downstream_gene_variant LIRI-JP 18 56062712 56062712 single base substitution T G intron_variant LIRI-JP 18 56063250 56063250 single base substitution A T downstream_gene_variant LIRI-JP 18 56063250 56063250 single base substitution A T intron_variant LIRI-JP 18 56065446 56065446 single base substitution A T 3_prime_UTR_variant LIRI-JP 18 56065446 56065446 single base substitution A T downstream_gene_variant LIRI-JP 18 56066964 56066964 single base substitution C G 3_prime_UTR_variant LIRI-JP 18 56066964 56066964 single base substitution C G downstream_gene_variant LIRI-JP 18 56067136 56067136 single base substitution C G 3_prime_UTR_variant LIRI-JP 18 56067136 56067136 single base substitution C G downstream_gene_variant LIRI-JP 18 56067751 56067751 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 56067751 56067751 single base substitution A G downstream_gene_variant LIRI-JP 18 56069690 56069690 single base substitution T C downstream_gene_variant LIRI-JP 18 56070994 56070994 single base substitution C T downstream_gene_variant LUSC-KR 18 55707299 55707299 single base substitution G T upstream_gene_variant LUSC-KR 18 55731766 55731766 single base substitution A T intron_variant LUSC-KR 18 55733329 55733329 single base substitution A G intron_variant LUSC-KR 18 55737186 55737186 single base substitution A G intron_variant LUSC-KR 18 55744746 55744746 single base substitution G A intron_variant LUSC-KR 18 55745917 55745917 single base substitution C T intron_variant LUSC-KR 18 55748034 55748034 single base substitution G T intron_variant LUSC-KR 18 55748035 55748035 single base substitution G T intron_variant LUSC-KR 18 55750075 55750075 single base substitution A T intron_variant LUSC-KR 18 55754113 55754113 single base substitution C G intron_variant LUSC-KR 18 55754113 55754113 single base substitution C G upstream_gene_variant LUSC-KR 18 55754131 55754131 single base substitution C G intron_variant LUSC-KR 18 55754131 55754131 single base substitution C G upstream_gene_variant LUSC-KR 18 55754618 55754618 single base substitution C T intron_variant LUSC-KR 18 55754618 55754618 single base substitution C T upstream_gene_variant LUSC-KR 18 55755951 55755951 single base substitution A T intron_variant LUSC-KR 18 55755951 55755951 single base substitution A T upstream_gene_variant LUSC-KR 18 55758635 55758635 single base substitution C G exon_variant LUSC-KR 18 55758635 55758635 single base substitution C G intron_variant LUSC-KR 18 55759957 55759957 single base substitution A G intron_variant LUSC-KR 18 55762398 55762398 single base substitution G T intron_variant LUSC-KR 18 55776296 55776296 single base substitution A G intron_variant LUSC-KR 18 55790797 55790797 single base substitution C T intron_variant LUSC-KR 18 55796102 55796102 single base substitution G A intron_variant LUSC-KR 18 55797900 55797900 single base substitution A G intron_variant LUSC-KR 18 55797905 55797905 single base substitution A T intron_variant LUSC-KR 18 55800308 55800308 single base substitution G A intron_variant LUSC-KR 18 55804842 55804842 single base substitution T A intron_variant LUSC-KR 18 55814747 55814747 single base substitution T C intron_variant LUSC-KR 18 55814747 55814747 single base substitution T C upstream_gene_variant LUSC-KR 18 55815748 55815748 single base substitution G C intron_variant LUSC-KR 18 55815748 55815748 single base substitution G C upstream_gene_variant LUSC-KR 18 55816515 55816515 single base substitution G T intron_variant LUSC-KR 18 55816515 55816515 single base substitution G T upstream_gene_variant LUSC-KR 18 55820910 55820910 single base substitution G C intron_variant LUSC-KR 18 55832251 55832251 single base substitution C G intron_variant LUSC-KR 18 55832833 55832833 single base substitution A G intron_variant LUSC-KR 18 55833613 55833613 single base substitution A T downstream_gene_variant LUSC-KR 18 55833613 55833613 single base substitution A T intron_variant LUSC-KR 18 55836895 55836895 single base substitution C T downstream_gene_variant LUSC-KR 18 55836895 55836895 single base substitution C T intron_variant LUSC-KR 18 55843179 55843179 single base substitution G T intron_variant LUSC-KR 18 55846198 55846198 single base substitution T G intron_variant LUSC-KR 18 55851124 55851124 single base substitution A T intron_variant LUSC-KR 18 55862847 55862847 single base substitution G A 5_prime_UTR_variant LUSC-KR 18 55862847 55862847 single base substitution G A intron_variant LUSC-KR 18 55862847 55862847 single base substitution G A upstream_gene_variant LUSC-KR 18 55864787 55864787 single base substitution C T intron_variant LUSC-KR 18 55864787 55864787 single base substitution C T upstream_gene_variant LUSC-KR 18 55874737 55874737 single base substitution A G intron_variant LUSC-KR 18 55877036 55877036 single base substitution C T intron_variant LUSC-KR 18 55879172 55879172 single base substitution G A intron_variant LUSC-KR 18 55882445 55882445 single base substitution G T intron_variant LUSC-KR 18 55884008 55884008 single base substitution C G intron_variant LUSC-KR 18 55884008 55884008 single base substitution C G upstream_gene_variant LUSC-KR 18 55886654 55886654 single base substitution G T intron_variant LUSC-KR 18 55886654 55886654 single base substitution G T upstream_gene_variant LUSC-KR 18 55894437 55894437 single base substitution G C intron_variant LUSC-KR 18 55895005 55895005 single base substitution C A intron_variant LUSC-KR 18 55925378 55925378 single base substitution C G intron_variant LUSC-KR 18 55926569 55926569 single base substitution C T intron_variant LUSC-KR 18 55932259 55932259 single base substitution C G intron_variant LUSC-KR 18 55950695 55950695 single base substitution A G intron_variant LUSC-KR 18 55953689 55953689 single base substitution C A intron_variant LUSC-KR 18 55963465 55963465 single base substitution A G intron_variant LUSC-KR 18 55966883 55966883 single base substitution G T intron_variant LUSC-KR 18 55968523 55968523 single base substitution C G intron_variant LUSC-KR 18 55969829 55969829 single base substitution C G intron_variant LUSC-KR 18 55979274 55979274 single base substitution C T intron_variant LUSC-KR 18 55979274 55979274 single base substitution C T upstream_gene_variant LUSC-KR 18 56002423 56002423 single base substitution A T downstream_gene_variant LUSC-KR 18 56002423 56002423 single base substitution A T intron_variant LUSC-KR 18 56008958 56008958 single base substitution C A exon_variant LUSC-KR 18 56008958 56008958 single base substitution C A intron_variant LUSC-KR 18 56008958 56008958 single base substitution C A missense_variant L295I 883C>A LUSC-KR 18 56008958 56008958 single base substitution C A missense_variant L315I 943C>A LUSC-KR 18 56008958 56008958 single base substitution C A missense_variant L372I 1114C>A LUSC-KR 18 56008958 56008958 single base substitution C A missense_variant L408I 1222C>A LUSC-KR 18 56008958 56008958 single base substitution C A missense_variant L416I 1246C>A LUSC-KR 18 56008958 56008958 single base substitution C A missense_variant L428I 1282C>A LUSC-KR 18 56008958 56008958 single base substitution C A missense_variant L436I 1306C>A LUSC-KR 18 56017345 56017345 single base substitution T G intron_variant LUSC-KR 18 56017451 56017451 single base substitution T C intron_variant LUSC-KR 18 56027660 56027660 single base substitution A T intron_variant LUSC-KR 18 56033027 56033027 single base substitution G A intron_variant LUSC-KR 18 56033027 56033027 single base substitution G A upstream_gene_variant LUSC-KR 18 56037849 56037849 single base substitution A G downstream_gene_variant LUSC-KR 18 56037849 56037849 single base substitution A G intron_variant LUSC-KR 18 56037849 56037849 single base substitution A G upstream_gene_variant LUSC-KR 18 56040182 56040182 single base substitution C T intron_variant LUSC-KR 18 56040182 56040182 single base substitution C T upstream_gene_variant LUSC-KR 18 56049927 56049927 single base substitution G A intron_variant LUSC-KR 18 56053202 56053202 single base substitution G C intron_variant LUSC-KR 18 56053202 56053202 single base substitution G C upstream_gene_variant LUSC-KR 18 56055593 56055593 single base substitution G A exon_variant LUSC-KR 18 56055593 56055593 single base substitution G A intron_variant LUSC-KR 18 56055593 56055593 single base substitution G A upstream_gene_variant LUSC-KR 18 56056451 56056451 single base substitution G T exon_variant LUSC-KR 18 56056451 56056451 single base substitution G T intron_variant LUSC-KR 18 56056451 56056451 single base substitution G T upstream_gene_variant LUSC-KR 18 56063852 56063852 single base substitution C T 3_prime_UTR_variant LUSC-KR 18 56063852 56063852 single base substitution C T downstream_gene_variant LUSC-KR 18 56063852 56063852 single base substitution C T exon_variant LUSC-KR 18 56063905 56063905 single base substitution G A 3_prime_UTR_variant LUSC-KR 18 56063905 56063905 single base substitution G A downstream_gene_variant LUSC-KR 18 56063905 56063905 single base substitution G A exon_variant LUSC-KR 18 56068503 56068503 single base substitution C G 3_prime_UTR_variant LUSC-KR 18 56068503 56068503 single base substitution C G downstream_gene_variant LUSC-KR 18 56069083 56069083 single base substitution G T downstream_gene_variant LUSC-KR 18 56071058 56071058 single base substitution T G downstream_gene_variant LUSC-US 18 55992303 55992303 single base substitution C T downstream_gene_variant LUSC-US 18 55992303 55992303 single base substitution C T exon_variant LUSC-US 18 55992303 55992303 single base substitution C T intron_variant LUSC-US 18 55992303 55992303 single base substitution C T missense_variant P189S 565C>T LUSC-US 18 55992303 55992303 single base substitution C T missense_variant P197S 589C>T LUSC-US 18 55992303 55992303 single base substitution C T missense_variant P31S 91C>T LUSC-US 18 55992303 55992303 single base substitution C T missense_variant P76S 226C>T LUSC-US 18 56009014 56009014 single base substitution A G exon_variant LUSC-US 18 56009014 56009014 single base substitution A G intron_variant LUSC-US 18 56009014 56009014 single base substitution A G synonymous_variant L313L 939A>G LUSC-US 18 56009014 56009014 single base substitution A G synonymous_variant L333L 999A>G LUSC-US 18 56009014 56009014 single base substitution A G synonymous_variant L390L 1170A>G LUSC-US 18 56009014 56009014 single base substitution A G synonymous_variant L426L 1278A>G LUSC-US 18 56009014 56009014 single base substitution A G synonymous_variant L434L 1302A>G LUSC-US 18 56009014 56009014 single base substitution A G synonymous_variant L446L 1338A>G LUSC-US 18 56009014 56009014 single base substitution A G synonymous_variant L454L 1362A>G LUSC-US 18 56033437 56033437 single base substitution C T downstream_gene_variant LUSC-US 18 56033437 56033437 single base substitution C T exon_variant LUSC-US 18 56033437 56033437 single base substitution C T intron_variant LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y344Y 1032C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y539Y 1617C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y540Y 1620C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y559Y 1677C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y576Y 1728C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y616Y 1848C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y652Y 1956C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y660Y 1980C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y672Y 2016C>T LUSC-US 18 56033437 56033437 single base substitution C T synonymous_variant Y680Y 2040C>T LUSC-US 18 56033437 56033437 single base substitution C T upstream_gene_variant MALY-DE 18 55708727 55708727 single base substitution T G upstream_gene_variant MALY-DE 18 55710349 55710349 single base substitution G A upstream_gene_variant MALY-DE 18 55715070 55715070 single base substitution T C intron_variant MALY-DE 18 55726541 55726541 single base substitution C T intron_variant MALY-DE 18 55731172 55731172 single base substitution A G intron_variant MALY-DE 18 55747131 55747134 deletion of <=200bp TCTT - intron_variant MALY-DE 18 55748671 55748671 single base substitution T A intron_variant MALY-DE 18 55748686 55748686 single base substitution A G intron_variant MALY-DE 18 55749718 55749718 deletion of <=200bp T - intron_variant MALY-DE 18 55757784 55757784 single base substitution C T intron_variant MALY-DE 18 55757784 55757784 single base substitution C T upstream_gene_variant MALY-DE 18 55762269 55762269 single base substitution T G intron_variant MALY-DE 18 55764061 55764061 single base substitution C T intron_variant MALY-DE 18 55767922 55767922 single base substitution C T intron_variant MALY-DE 18 55779703 55779703 single base substitution T G intron_variant MALY-DE 18 55781594 55781595 deletion of <=200bp AC - intron_variant MALY-DE 18 55786998 55786998 single base substitution T G intron_variant MALY-DE 18 55787141 55787141 single base substitution C A intron_variant MALY-DE 18 55791551 55791551 single base substitution C T intron_variant MALY-DE 18 55791989 55791989 single base substitution C T intron_variant MALY-DE 18 55796869 55796869 single base substitution G A intron_variant MALY-DE 18 55805195 55805195 single base substitution A G intron_variant MALY-DE 18 55813516 55813516 single base substitution G T intron_variant MALY-DE 18 55813516 55813516 single base substitution G T upstream_gene_variant MALY-DE 18 55816293 55816293 single base substitution T G intron_variant MALY-DE 18 55816293 55816293 single base substitution T G upstream_gene_variant MALY-DE 18 55818361 55818361 single base substitution C T intron_variant MALY-DE 18 55818858 55818859 deletion of <=200bp TG - intron_variant MALY-DE 18 55818943 55818943 single base substitution A C intron_variant MALY-DE 18 55822625 55822625 single base substitution A G intron_variant MALY-DE 18 55824832 55824832 single base substitution A G intron_variant MALY-DE 18 55836892 55836892 single base substitution G A downstream_gene_variant MALY-DE 18 55836892 55836892 single base substitution G A intron_variant MALY-DE 18 55847469 55847469 single base substitution A C intron_variant MALY-DE 18 55852687 55852687 single base substitution A C intron_variant MALY-DE 18 55853171 55853171 single base substitution C T intron_variant MALY-DE 18 55855148 55855148 single base substitution A G intron_variant MALY-DE 18 55857116 55857116 single base substitution T A intron_variant MALY-DE 18 55858718 55858718 single base substitution T G intron_variant MALY-DE 18 55858718 55858718 single base substitution T G upstream_gene_variant MALY-DE 18 55860093 55860096 deletion of <=200bp AAAG - intron_variant MALY-DE 18 55860093 55860096 deletion of <=200bp AAAG - upstream_gene_variant MALY-DE 18 55886541 55886541 single base substitution G A intron_variant MALY-DE 18 55886541 55886541 single base substitution G A upstream_gene_variant MALY-DE 18 55893270 55893270 single base substitution A C intron_variant MALY-DE 18 55895932 55895932 single base substitution G C intron_variant MALY-DE 18 55899444 55899444 single base substitution G C intron_variant MALY-DE 18 55905048 55905048 single base substitution C A intron_variant MALY-DE 18 55921295 55921295 single base substitution C G intron_variant MALY-DE 18 55922181 55922181 single base substitution T C intron_variant MALY-DE 18 55946121 55946121 single base substitution T G intron_variant MALY-DE 18 55948615 55948615 single base substitution A G intron_variant MALY-DE 18 55948981 55948981 single base substitution G A intron_variant MALY-DE 18 55955264 55955264 single base substitution A G intron_variant MALY-DE 18 55966828 55966828 single base substitution G A intron_variant MALY-DE 18 55967836 55967836 single base substitution T C intron_variant MALY-DE 18 55969613 55969613 single base substitution A G intron_variant MALY-DE 18 55970018 55970018 deletion of <=200bp T - intron_variant MALY-DE 18 55970078 55970078 single base substitution C T intron_variant MALY-DE 18 55993294 55993294 single base substitution A G downstream_gene_variant MALY-DE 18 55993294 55993294 single base substitution A G intron_variant MALY-DE 18 55993294 55993294 single base substitution A G upstream_gene_variant MALY-DE 18 55994231 55994231 single base substitution G T downstream_gene_variant MALY-DE 18 55994231 55994231 single base substitution G T intron_variant MALY-DE 18 55994231 55994231 single base substitution G T upstream_gene_variant MALY-DE 18 56003237 56003237 single base substitution T C downstream_gene_variant MALY-DE 18 56003237 56003237 single base substitution T C exon_variant MALY-DE 18 56003237 56003237 single base substitution T C intron_variant MALY-DE 18 56003237 56003237 single base substitution T C upstream_gene_variant MALY-DE 18 56016899 56016899 single base substitution C T intron_variant MALY-DE 18 56029147 56029147 single base substitution T C intron_variant MALY-DE 18 56029147 56029147 single base substitution T C upstream_gene_variant MALY-DE 18 56036720 56036720 single base substitution G A downstream_gene_variant MALY-DE 18 56036720 56036720 single base substitution G A intron_variant MALY-DE 18 56036720 56036720 single base substitution G A upstream_gene_variant MALY-DE 18 56042555 56042569 deletion of <=200bp CCCTGTTCTCCAGTG - downstream_gene_variant MALY-DE 18 56042555 56042569 deletion of <=200bp CCCTGTTCTCCAGTG - intron_variant MALY-DE 18 56050218 56050218 single base substitution T C intron_variant MALY-DE 18 56050218 56050218 single base substitution T C upstream_gene_variant MALY-DE 18 56071369 56071369 single base substitution C T downstream_gene_variant MELA-AU 18 55706871 55706871 single base substitution C T upstream_gene_variant MELA-AU 18 55706916 55706916 single base substitution C T upstream_gene_variant MELA-AU 18 55707242 55707242 single base substitution G A upstream_gene_variant MELA-AU 18 55707431 55707431 single base substitution C T upstream_gene_variant MELA-AU 18 55707583 55707583 single base substitution C T upstream_gene_variant MELA-AU 18 55707927 55707927 single base substitution C T upstream_gene_variant MELA-AU 18 55707951 55707951 single base substitution G A upstream_gene_variant MELA-AU 18 55708023 55708023 single base substitution C T upstream_gene_variant MELA-AU 18 55708283 55708283 single base substitution G A upstream_gene_variant MELA-AU 18 55708632 55708632 single base substitution C T upstream_gene_variant MELA-AU 18 55708863 55708863 single base substitution C T upstream_gene_variant MELA-AU 18 55709508 55709508 single base substitution C A upstream_gene_variant MELA-AU 18 55710257 55710257 single base substitution C T upstream_gene_variant MELA-AU 18 55710343 55710343 single base substitution G A upstream_gene_variant MELA-AU 18 55711173 55711173 single base substitution C T upstream_gene_variant MELA-AU 18 55711248 55711248 single base substitution G A upstream_gene_variant MELA-AU 18 55712734 55712734 single base substitution G A intron_variant MELA-AU 18 55712734 55712734 single base substitution G A upstream_gene_variant MELA-AU 18 55715114 55715114 single base substitution C T intron_variant MELA-AU 18 55715899 55715899 single base substitution G A intron_variant MELA-AU 18 55715927 55715927 single base substitution A C intron_variant MELA-AU 18 55716502 55716502 single base substitution G A intron_variant MELA-AU 18 55717036 55717036 single base substitution C T intron_variant MELA-AU 18 55717036 55717036 single base substitution C T upstream_gene_variant MELA-AU 18 55718007 55718007 single base substitution G A intron_variant MELA-AU 18 55718007 55718007 single base substitution G A upstream_gene_variant MELA-AU 18 55718566 55718566 single base substitution C T intron_variant MELA-AU 18 55718566 55718566 single base substitution C T upstream_gene_variant MELA-AU 18 55718964 55718964 single base substitution C T intron_variant MELA-AU 18 55718964 55718964 single base substitution C T upstream_gene_variant MELA-AU 18 55719161 55719161 single base substitution A T intron_variant MELA-AU 18 55719161 55719161 single base substitution A T upstream_gene_variant MELA-AU 18 55719324 55719324 single base substitution A G intron_variant MELA-AU 18 55719324 55719324 single base substitution A G upstream_gene_variant MELA-AU 18 55719629 55719630 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55719629 55719630 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 55720275 55720275 single base substitution G A intron_variant MELA-AU 18 55720275 55720275 single base substitution G A upstream_gene_variant MELA-AU 18 55720416 55720416 single base substitution C T intron_variant MELA-AU 18 55720416 55720416 single base substitution C T upstream_gene_variant MELA-AU 18 55720435 55720435 single base substitution C T intron_variant MELA-AU 18 55720435 55720435 single base substitution C T upstream_gene_variant MELA-AU 18 55720461 55720461 single base substitution C T intron_variant MELA-AU 18 55720461 55720461 single base substitution C T upstream_gene_variant MELA-AU 18 55721828 55721828 single base substitution T C intron_variant MELA-AU 18 55721828 55721828 single base substitution T C upstream_gene_variant MELA-AU 18 55722889 55722889 single base substitution G A intron_variant MELA-AU 18 55723167 55723167 single base substitution G A intron_variant MELA-AU 18 55723338 55723338 single base substitution A T intron_variant MELA-AU 18 55723776 55723776 single base substitution C T intron_variant MELA-AU 18 55723832 55723832 single base substitution C T intron_variant MELA-AU 18 55724036 55724037 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 18 55724301 55724301 single base substitution C T intron_variant MELA-AU 18 55724705 55724705 single base substitution C A intron_variant MELA-AU 18 55725204 55725204 single base substitution C T intron_variant MELA-AU 18 55725421 55725421 single base substitution C T intron_variant MELA-AU 18 55725715 55725715 single base substitution C T intron_variant MELA-AU 18 55725784 55725784 single base substitution G A intron_variant MELA-AU 18 55726626 55726626 single base substitution C T intron_variant MELA-AU 18 55726628 55726628 single base substitution C T intron_variant MELA-AU 18 55726861 55726861 single base substitution C T intron_variant MELA-AU 18 55727145 55727145 single base substitution T C intron_variant MELA-AU 18 55727176 55727176 single base substitution C A intron_variant MELA-AU 18 55727412 55727412 single base substitution G A intron_variant MELA-AU 18 55728288 55728288 single base substitution G A intron_variant MELA-AU 18 55728888 55728888 single base substitution T G intron_variant MELA-AU 18 55729422 55729422 single base substitution G A intron_variant MELA-AU 18 55730035 55730035 single base substitution A C intron_variant MELA-AU 18 55730473 55730473 single base substitution G A intron_variant MELA-AU 18 55730483 55730483 single base substitution C T intron_variant MELA-AU 18 55730866 55730866 single base substitution C T intron_variant MELA-AU 18 55731037 55731037 single base substitution C T intron_variant MELA-AU 18 55731123 55731123 single base substitution C A intron_variant MELA-AU 18 55731299 55731299 single base substitution C T intron_variant MELA-AU 18 55731798 55731798 single base substitution T C intron_variant MELA-AU 18 55732194 55732194 single base substitution G T intron_variant MELA-AU 18 55733568 55733568 single base substitution G A intron_variant MELA-AU 18 55736414 55736414 single base substitution C T intron_variant MELA-AU 18 55737511 55737511 single base substitution T A intron_variant MELA-AU 18 55739193 55739194 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55740400 55740400 single base substitution C T intron_variant MELA-AU 18 55740973 55740973 single base substitution C A intron_variant MELA-AU 18 55741159 55741159 single base substitution A G intron_variant MELA-AU 18 55741501 55741501 single base substitution T G intron_variant MELA-AU 18 55741610 55741610 single base substitution C T intron_variant MELA-AU 18 55742346 55742346 single base substitution G A intron_variant MELA-AU 18 55743176 55743176 single base substitution C T intron_variant MELA-AU 18 55743554 55743554 single base substitution C T intron_variant MELA-AU 18 55744390 55744391 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55744659 55744659 deletion of <=200bp A - intron_variant MELA-AU 18 55745257 55745257 single base substitution T G intron_variant MELA-AU 18 55745591 55745591 single base substitution A C intron_variant MELA-AU 18 55746141 55746142 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55746397 55746397 single base substitution C T intron_variant MELA-AU 18 55746617 55746617 single base substitution C T intron_variant MELA-AU 18 55746825 55746826 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55747465 55747465 single base substitution C T intron_variant MELA-AU 18 55748122 55748122 single base substitution G A intron_variant MELA-AU 18 55748385 55748385 single base substitution G A intron_variant MELA-AU 18 55748971 55748972 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55749121 55749121 single base substitution C T intron_variant MELA-AU 18 55750206 55750206 single base substitution C T intron_variant MELA-AU 18 55750513 55750519 deletion of <=200bp ATGATTT - intron_variant MELA-AU 18 55750633 55750633 single base substitution C T intron_variant MELA-AU 18 55750775 55750775 single base substitution C T intron_variant MELA-AU 18 55750888 55750888 single base substitution C T intron_variant MELA-AU 18 55750930 55750930 single base substitution A C intron_variant MELA-AU 18 55751194 55751194 single base substitution C T intron_variant MELA-AU 18 55752199 55752199 single base substitution T A intron_variant MELA-AU 18 55752275 55752275 single base substitution C T intron_variant MELA-AU 18 55753770 55753770 single base substitution G A intron_variant MELA-AU 18 55753770 55753770 single base substitution G A upstream_gene_variant MELA-AU 18 55754026 55754026 single base substitution C T intron_variant MELA-AU 18 55754026 55754026 single base substitution C T upstream_gene_variant MELA-AU 18 55754109 55754109 single base substitution C T intron_variant MELA-AU 18 55754109 55754109 single base substitution C T upstream_gene_variant MELA-AU 18 55754280 55754280 single base substitution C T intron_variant MELA-AU 18 55754280 55754280 single base substitution C T upstream_gene_variant MELA-AU 18 55754607 55754607 single base substitution C T intron_variant MELA-AU 18 55754607 55754607 single base substitution C T upstream_gene_variant MELA-AU 18 55755077 55755077 single base substitution G A intron_variant MELA-AU 18 55755077 55755077 single base substitution G A upstream_gene_variant MELA-AU 18 55756531 55756531 single base substitution A C intron_variant MELA-AU 18 55756531 55756531 single base substitution A C upstream_gene_variant MELA-AU 18 55757161 55757161 single base substitution T G intron_variant MELA-AU 18 55757161 55757161 single base substitution T G upstream_gene_variant MELA-AU 18 55757377 55757377 single base substitution C T intron_variant MELA-AU 18 55757377 55757377 single base substitution C T upstream_gene_variant MELA-AU 18 55757536 55757536 single base substitution A T intron_variant MELA-AU 18 55757536 55757536 single base substitution A T upstream_gene_variant MELA-AU 18 55757622 55757622 single base substitution C T intron_variant MELA-AU 18 55757622 55757622 single base substitution C T upstream_gene_variant MELA-AU 18 55757741 55757741 single base substitution C T intron_variant MELA-AU 18 55757741 55757741 single base substitution C T upstream_gene_variant MELA-AU 18 55757832 55757832 single base substitution C T intron_variant MELA-AU 18 55757832 55757832 single base substitution C T upstream_gene_variant MELA-AU 18 55758325 55758325 single base substitution C T exon_variant MELA-AU 18 55758325 55758325 single base substitution C T intron_variant MELA-AU 18 55758343 55758343 single base substitution C T exon_variant MELA-AU 18 55758343 55758343 single base substitution C T intron_variant MELA-AU 18 55759104 55759104 single base substitution C T intron_variant MELA-AU 18 55759591 55759591 single base substitution G C intron_variant MELA-AU 18 55759937 55759937 single base substitution C T intron_variant MELA-AU 18 55760161 55760161 single base substitution C T intron_variant MELA-AU 18 55760628 55760628 single base substitution C T intron_variant MELA-AU 18 55760705 55760705 single base substitution C T intron_variant MELA-AU 18 55761386 55761386 single base substitution G A intron_variant MELA-AU 18 55761831 55761831 single base substitution C T intron_variant MELA-AU 18 55762620 55762620 single base substitution G A intron_variant MELA-AU 18 55763117 55763117 single base substitution C T intron_variant MELA-AU 18 55763331 55763331 single base substitution C T intron_variant MELA-AU 18 55763548 55763548 single base substitution C T intron_variant MELA-AU 18 55764029 55764030 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55764070 55764070 single base substitution C T intron_variant MELA-AU 18 55764277 55764277 single base substitution C T intron_variant MELA-AU 18 55764762 55764762 single base substitution G A intron_variant MELA-AU 18 55765044 55765044 single base substitution G A intron_variant MELA-AU 18 55765533 55765533 single base substitution G A intron_variant MELA-AU 18 55765622 55765622 single base substitution C T intron_variant MELA-AU 18 55765971 55765971 single base substitution C T intron_variant MELA-AU 18 55766415 55766415 single base substitution G T intron_variant MELA-AU 18 55766919 55766919 single base substitution T C intron_variant MELA-AU 18 55767406 55767406 single base substitution C T intron_variant MELA-AU 18 55767651 55767651 deletion of <=200bp A - intron_variant MELA-AU 18 55767764 55767764 single base substitution C T intron_variant MELA-AU 18 55768282 55768282 single base substitution C T intron_variant MELA-AU 18 55768413 55768413 single base substitution C T intron_variant MELA-AU 18 55768587 55768587 single base substitution C A intron_variant MELA-AU 18 55769520 55769520 single base substitution C A intron_variant MELA-AU 18 55769578 55769578 single base substitution C T intron_variant MELA-AU 18 55771232 55771232 single base substitution T C intron_variant MELA-AU 18 55771479 55771479 single base substitution G A intron_variant MELA-AU 18 55771502 55771503 deletion of <=200bp AG - intron_variant MELA-AU 18 55771693 55771693 single base substitution A T intron_variant MELA-AU 18 55771890 55771890 single base substitution C T intron_variant MELA-AU 18 55772521 55772521 single base substitution C T intron_variant MELA-AU 18 55773190 55773190 single base substitution T G intron_variant MELA-AU 18 55773205 55773205 single base substitution C T intron_variant MELA-AU 18 55773391 55773392 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55774286 55774286 single base substitution C T intron_variant MELA-AU 18 55774561 55774561 single base substitution G A intron_variant MELA-AU 18 55774641 55774641 single base substitution C T intron_variant MELA-AU 18 55774698 55774698 single base substitution C T intron_variant MELA-AU 18 55775150 55775150 single base substitution C T intron_variant MELA-AU 18 55775479 55775479 single base substitution G A intron_variant MELA-AU 18 55775796 55775796 single base substitution G A intron_variant MELA-AU 18 55776384 55776384 single base substitution C T intron_variant MELA-AU 18 55776926 55776926 single base substitution C T intron_variant MELA-AU 18 55776981 55776981 single base substitution T C intron_variant MELA-AU 18 55776991 55776991 single base substitution G C intron_variant MELA-AU 18 55777027 55777027 single base substitution C T intron_variant MELA-AU 18 55777625 55777625 single base substitution C T intron_variant MELA-AU 18 55777679 55777682 deletion of <=200bp CAAC - intron_variant MELA-AU 18 55778434 55778434 single base substitution G A intron_variant MELA-AU 18 55778647 55778647 single base substitution C T intron_variant MELA-AU 18 55778874 55778874 single base substitution C T intron_variant MELA-AU 18 55779392 55779392 single base substitution C T intron_variant MELA-AU 18 55779672 55779672 single base substitution A G intron_variant MELA-AU 18 55780214 55780214 single base substitution C T intron_variant MELA-AU 18 55780533 55780533 single base substitution C T intron_variant MELA-AU 18 55780788 55780789 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55780971 55780971 single base substitution G A intron_variant MELA-AU 18 55781276 55781276 single base substitution G A intron_variant MELA-AU 18 55782156 55782156 single base substitution C T intron_variant MELA-AU 18 55782338 55782338 single base substitution G A intron_variant MELA-AU 18 55782608 55782608 single base substitution C T intron_variant MELA-AU 18 55784704 55784705 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 18 55784908 55784908 single base substitution C T intron_variant MELA-AU 18 55785280 55785280 single base substitution C T intron_variant MELA-AU 18 55786362 55786362 single base substitution A G intron_variant MELA-AU 18 55786466 55786466 single base substitution G A intron_variant MELA-AU 18 55786798 55786798 single base substitution T C intron_variant MELA-AU 18 55786884 55786884 single base substitution G A intron_variant MELA-AU 18 55787088 55787088 single base substitution C T intron_variant MELA-AU 18 55787145 55787145 single base substitution G A intron_variant MELA-AU 18 55787184 55787184 single base substitution C T intron_variant MELA-AU 18 55787639 55787639 single base substitution G T intron_variant MELA-AU 18 55788610 55788610 single base substitution C T intron_variant MELA-AU 18 55788832 55788832 single base substitution G A intron_variant MELA-AU 18 55789997 55789997 single base substitution T C intron_variant MELA-AU 18 55790352 55790352 single base substitution C T intron_variant MELA-AU 18 55790530 55790530 single base substitution C T intron_variant MELA-AU 18 55791105 55791106 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 18 55791156 55791156 single base substitution C T intron_variant MELA-AU 18 55791829 55791829 single base substitution C T intron_variant MELA-AU 18 55791896 55791896 single base substitution C T intron_variant MELA-AU 18 55791919 55791919 single base substitution C T intron_variant MELA-AU 18 55792245 55792246 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55793212 55793212 single base substitution C T intron_variant MELA-AU 18 55793289 55793289 single base substitution C T intron_variant MELA-AU 18 55793318 55793318 single base substitution C T intron_variant MELA-AU 18 55794013 55794013 single base substitution C T intron_variant MELA-AU 18 55794326 55794326 single base substitution C T intron_variant MELA-AU 18 55794681 55794681 single base substitution T C intron_variant MELA-AU 18 55794687 55794687 single base substitution C T intron_variant MELA-AU 18 55794702 55794702 single base substitution G A intron_variant MELA-AU 18 55794789 55794789 single base substitution C T intron_variant MELA-AU 18 55794819 55794819 single base substitution C T intron_variant MELA-AU 18 55794847 55794847 single base substitution G A intron_variant MELA-AU 18 55795323 55795323 single base substitution G A intron_variant MELA-AU 18 55795537 55795537 single base substitution C T intron_variant MELA-AU 18 55795795 55795795 single base substitution C T intron_variant MELA-AU 18 55795874 55795874 single base substitution G C intron_variant MELA-AU 18 55796236 55796236 single base substitution T G intron_variant MELA-AU 18 55796332 55796332 single base substitution C T intron_variant MELA-AU 18 55796546 55796546 single base substitution C T intron_variant MELA-AU 18 55796746 55796746 single base substitution C T intron_variant MELA-AU 18 55797021 55797021 single base substitution G A intron_variant MELA-AU 18 55797221 55797221 single base substitution G T intron_variant MELA-AU 18 55798826 55798826 single base substitution G A intron_variant MELA-AU 18 55799413 55799413 single base substitution C T intron_variant MELA-AU 18 55800531 55800531 single base substitution C T intron_variant MELA-AU 18 55801224 55801224 single base substitution T C intron_variant MELA-AU 18 55801379 55801379 single base substitution C T intron_variant MELA-AU 18 55802195 55802195 single base substitution A T intron_variant MELA-AU 18 55803189 55803189 single base substitution C G intron_variant MELA-AU 18 55803203 55803203 single base substitution C T intron_variant MELA-AU 18 55804776 55804776 single base substitution C T intron_variant MELA-AU 18 55805237 55805237 single base substitution C T intron_variant MELA-AU 18 55805487 55805487 single base substitution T A intron_variant MELA-AU 18 55805546 55805546 single base substitution C T intron_variant MELA-AU 18 55805563 55805563 single base substitution C T intron_variant MELA-AU 18 55805598 55805598 single base substitution C T intron_variant MELA-AU 18 55805630 55805630 single base substitution C T intron_variant MELA-AU 18 55805871 55805871 single base substitution G A intron_variant MELA-AU 18 55806819 55806819 single base substitution C T intron_variant MELA-AU 18 55807029 55807030 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55807047 55807048 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55807269 55807269 single base substitution G A intron_variant MELA-AU 18 55807689 55807689 single base substitution C G intron_variant MELA-AU 18 55808425 55808425 single base substitution C T intron_variant MELA-AU 18 55808472 55808472 single base substitution A C intron_variant MELA-AU 18 55809309 55809309 single base substitution C T intron_variant MELA-AU 18 55809325 55809325 single base substitution C T intron_variant MELA-AU 18 55810381 55810382 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55812569 55812569 single base substitution C T intron_variant MELA-AU 18 55812569 55812569 single base substitution C T upstream_gene_variant MELA-AU 18 55812682 55812682 single base substitution T G intron_variant MELA-AU 18 55812682 55812682 single base substitution T G upstream_gene_variant MELA-AU 18 55812835 55812835 single base substitution C T intron_variant MELA-AU 18 55812835 55812835 single base substitution C T upstream_gene_variant MELA-AU 18 55812905 55812905 single base substitution C T intron_variant MELA-AU 18 55812905 55812905 single base substitution C T upstream_gene_variant MELA-AU 18 55813028 55813028 single base substitution C T intron_variant MELA-AU 18 55813028 55813028 single base substitution C T upstream_gene_variant MELA-AU 18 55813947 55813947 single base substitution G A intron_variant MELA-AU 18 55813947 55813947 single base substitution G A upstream_gene_variant MELA-AU 18 55814749 55814749 single base substitution C T intron_variant MELA-AU 18 55814749 55814749 single base substitution C T upstream_gene_variant MELA-AU 18 55814937 55814937 single base substitution C T intron_variant MELA-AU 18 55814937 55814937 single base substitution C T upstream_gene_variant MELA-AU 18 55815704 55815704 single base substitution C T intron_variant MELA-AU 18 55815704 55815704 single base substitution C T upstream_gene_variant MELA-AU 18 55815721 55815721 single base substitution C T intron_variant MELA-AU 18 55815721 55815721 single base substitution C T upstream_gene_variant MELA-AU 18 55815738 55815738 single base substitution G A intron_variant MELA-AU 18 55815738 55815738 single base substitution G A upstream_gene_variant MELA-AU 18 55817371 55817371 single base substitution C T intron_variant MELA-AU 18 55817505 55817505 single base substitution T G intron_variant MELA-AU 18 55817923 55817923 single base substitution T G intron_variant MELA-AU 18 55818092 55818105 deletion of <=200bp GGGGCGGGTCGTAC - intron_variant MELA-AU 18 55818128 55818128 single base substitution C T intron_variant MELA-AU 18 55818292 55818292 single base substitution C T intron_variant MELA-AU 18 55818994 55818994 single base substitution G T intron_variant MELA-AU 18 55819932 55819932 single base substitution C T intron_variant MELA-AU 18 55820613 55820613 single base substitution C T intron_variant MELA-AU 18 55820660 55820660 single base substitution C T intron_variant MELA-AU 18 55820919 55820919 single base substitution C T intron_variant MELA-AU 18 55821053 55821053 single base substitution G A intron_variant MELA-AU 18 55821071 55821072 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55821244 55821244 single base substitution G A intron_variant MELA-AU 18 55821518 55821518 single base substitution C T intron_variant MELA-AU 18 55821533 55821533 single base substitution C T intron_variant MELA-AU 18 55821815 55821815 single base substitution C T intron_variant MELA-AU 18 55821920 55821920 single base substitution G A intron_variant MELA-AU 18 55822190 55822190 single base substitution C T intron_variant MELA-AU 18 55823068 55823068 single base substitution C T intron_variant MELA-AU 18 55823417 55823417 single base substitution C T intron_variant MELA-AU 18 55823680 55823680 single base substitution G A intron_variant MELA-AU 18 55823839 55823839 single base substitution C T intron_variant MELA-AU 18 55824166 55824166 single base substitution C T intron_variant MELA-AU 18 55824196 55824196 single base substitution G A intron_variant MELA-AU 18 55824622 55824622 single base substitution C T intron_variant MELA-AU 18 55825000 55825000 deletion of <=200bp C - intron_variant MELA-AU 18 55825033 55825033 single base substitution T C intron_variant MELA-AU 18 55825101 55825101 single base substitution T A intron_variant MELA-AU 18 55825717 55825718 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55825739 55825739 single base substitution C T intron_variant MELA-AU 18 55826478 55826479 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55826989 55826989 single base substitution C T intron_variant MELA-AU 18 55827147 55827147 single base substitution C T intron_variant MELA-AU 18 55827267 55827267 single base substitution G A intron_variant MELA-AU 18 55827522 55827522 single base substitution G C intron_variant MELA-AU 18 55827861 55827861 single base substitution G A intron_variant MELA-AU 18 55827934 55827935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55828078 55828078 single base substitution G A intron_variant MELA-AU 18 55828356 55828356 single base substitution C T intron_variant MELA-AU 18 55828550 55828550 single base substitution A T intron_variant MELA-AU 18 55828801 55828801 single base substitution C T intron_variant MELA-AU 18 55828976 55828976 single base substitution C T intron_variant MELA-AU 18 55830120 55830120 single base substitution A G intron_variant MELA-AU 18 55830223 55830223 single base substitution G A intron_variant MELA-AU 18 55830643 55830643 single base substitution C T intron_variant MELA-AU 18 55831526 55831526 single base substitution G A intron_variant MELA-AU 18 55832179 55832179 single base substitution C T intron_variant MELA-AU 18 55832343 55832343 single base substitution C T intron_variant MELA-AU 18 55832677 55832677 single base substitution C T intron_variant MELA-AU 18 55833339 55833339 single base substitution C T downstream_gene_variant MELA-AU 18 55833339 55833339 single base substitution C T intron_variant MELA-AU 18 55833649 55833649 single base substitution C T downstream_gene_variant MELA-AU 18 55833649 55833649 single base substitution C T intron_variant MELA-AU 18 55834195 55834195 single base substitution C T downstream_gene_variant MELA-AU 18 55834195 55834195 single base substitution C T intron_variant MELA-AU 18 55834671 55834671 single base substitution C T downstream_gene_variant MELA-AU 18 55834671 55834671 single base substitution C T intron_variant MELA-AU 18 55834946 55834946 single base substitution G A downstream_gene_variant MELA-AU 18 55834946 55834946 single base substitution G A intron_variant MELA-AU 18 55835164 55835164 single base substitution A T downstream_gene_variant MELA-AU 18 55835164 55835164 single base substitution A T intron_variant MELA-AU 18 55835221 55835221 single base substitution G A downstream_gene_variant MELA-AU 18 55835221 55835221 single base substitution G A intron_variant MELA-AU 18 55835647 55835647 single base substitution C T downstream_gene_variant MELA-AU 18 55835647 55835647 single base substitution C T intron_variant MELA-AU 18 55835660 55835660 single base substitution C T downstream_gene_variant MELA-AU 18 55835660 55835660 single base substitution C T intron_variant MELA-AU 18 55835974 55835974 single base substitution G A downstream_gene_variant MELA-AU 18 55835974 55835974 single base substitution G A intron_variant MELA-AU 18 55836277 55836277 single base substitution C T downstream_gene_variant MELA-AU 18 55836277 55836277 single base substitution C T intron_variant MELA-AU 18 55837233 55837233 single base substitution T A downstream_gene_variant MELA-AU 18 55837233 55837233 single base substitution T A intron_variant MELA-AU 18 55837249 55837249 single base substitution G A downstream_gene_variant MELA-AU 18 55837249 55837249 single base substitution G A intron_variant MELA-AU 18 55837327 55837327 single base substitution C T downstream_gene_variant MELA-AU 18 55837327 55837327 single base substitution C T intron_variant MELA-AU 18 55838729 55838729 single base substitution G A intron_variant MELA-AU 18 55838791 55838791 single base substitution C A intron_variant MELA-AU 18 55839011 55839011 single base substitution C T intron_variant MELA-AU 18 55839157 55839158 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55839320 55839320 single base substitution C T intron_variant MELA-AU 18 55839471 55839471 single base substitution G A intron_variant MELA-AU 18 55841053 55841054 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55841441 55841441 single base substitution C T intron_variant MELA-AU 18 55841508 55841508 single base substitution G A intron_variant MELA-AU 18 55842531 55842531 single base substitution A C intron_variant MELA-AU 18 55842576 55842576 single base substitution C T intron_variant MELA-AU 18 55843004 55843004 single base substitution G A intron_variant MELA-AU 18 55843149 55843149 single base substitution C T intron_variant MELA-AU 18 55843213 55843213 single base substitution G A intron_variant MELA-AU 18 55843371 55843371 single base substitution C T intron_variant MELA-AU 18 55844022 55844022 single base substitution G A intron_variant MELA-AU 18 55844771 55844771 single base substitution C T intron_variant MELA-AU 18 55845328 55845328 single base substitution A C intron_variant MELA-AU 18 55846598 55846598 single base substitution C T intron_variant MELA-AU 18 55846694 55846694 single base substitution G A intron_variant MELA-AU 18 55847040 55847040 single base substitution A T intron_variant MELA-AU 18 55847329 55847329 single base substitution C T intron_variant MELA-AU 18 55847759 55847759 single base substitution C G intron_variant MELA-AU 18 55848312 55848312 single base substitution G A intron_variant MELA-AU 18 55850149 55850149 single base substitution A C intron_variant MELA-AU 18 55850168 55850168 single base substitution C T intron_variant MELA-AU 18 55850824 55850824 single base substitution C T intron_variant MELA-AU 18 55850915 55850916 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55851020 55851020 single base substitution G A intron_variant MELA-AU 18 55851789 55851789 single base substitution C T intron_variant MELA-AU 18 55851910 55851910 single base substitution C T intron_variant MELA-AU 18 55852459 55852459 single base substitution C T intron_variant MELA-AU 18 55853225 55853225 single base substitution G A intron_variant MELA-AU 18 55853520 55853520 single base substitution C T intron_variant MELA-AU 18 55853543 55853543 single base substitution G T intron_variant MELA-AU 18 55853797 55853797 single base substitution C T intron_variant MELA-AU 18 55854655 55854655 single base substitution G A intron_variant MELA-AU 18 55854763 55854763 single base substitution C T intron_variant MELA-AU 18 55854828 55854828 single base substitution C T intron_variant MELA-AU 18 55855211 55855211 single base substitution C T intron_variant MELA-AU 18 55856832 55856832 single base substitution C T intron_variant MELA-AU 18 55857422 55857422 single base substitution C T intron_variant MELA-AU 18 55857705 55857705 single base substitution G A intron_variant MELA-AU 18 55857705 55857705 single base substitution G A upstream_gene_variant MELA-AU 18 55858285 55858285 single base substitution G A intron_variant MELA-AU 18 55858285 55858285 single base substitution G A upstream_gene_variant MELA-AU 18 55859728 55859728 single base substitution G A intron_variant MELA-AU 18 55859728 55859728 single base substitution G A upstream_gene_variant MELA-AU 18 55860002 55860002 single base substitution G A intron_variant MELA-AU 18 55860002 55860002 single base substitution G A upstream_gene_variant MELA-AU 18 55860803 55860803 single base substitution T A intron_variant MELA-AU 18 55860803 55860803 single base substitution T A upstream_gene_variant MELA-AU 18 55860940 55860940 single base substitution T C intron_variant MELA-AU 18 55860940 55860940 single base substitution T C upstream_gene_variant MELA-AU 18 55861119 55861119 single base substitution C T intron_variant MELA-AU 18 55861119 55861119 single base substitution C T upstream_gene_variant MELA-AU 18 55862118 55862118 single base substitution C T intron_variant MELA-AU 18 55862118 55862118 single base substitution C T upstream_gene_variant MELA-AU 18 55862643 55862643 single base substitution G A 5_prime_UTR_variant MELA-AU 18 55862643 55862643 single base substitution G A intron_variant MELA-AU 18 55862643 55862643 single base substitution G A upstream_gene_variant MELA-AU 18 55862675 55862675 single base substitution C T 5_prime_UTR_variant MELA-AU 18 55862675 55862675 single base substitution C T intron_variant MELA-AU 18 55862675 55862675 single base substitution C T upstream_gene_variant MELA-AU 18 55862863 55862863 single base substitution C A 5_prime_UTR_variant MELA-AU 18 55862863 55862863 single base substitution C A intron_variant MELA-AU 18 55862863 55862863 single base substitution C A upstream_gene_variant MELA-AU 18 55863169 55863169 single base substitution C G intron_variant MELA-AU 18 55863169 55863169 single base substitution C G upstream_gene_variant MELA-AU 18 55864524 55864524 single base substitution A G intron_variant MELA-AU 18 55864524 55864524 single base substitution A G upstream_gene_variant MELA-AU 18 55865224 55865224 single base substitution C T intron_variant MELA-AU 18 55865269 55865269 single base substitution C T intron_variant MELA-AU 18 55865521 55865521 single base substitution C T intron_variant MELA-AU 18 55865532 55865532 single base substitution C T intron_variant MELA-AU 18 55866294 55866294 single base substitution G T intron_variant MELA-AU 18 55866332 55866332 single base substitution T C intron_variant MELA-AU 18 55866486 55866486 single base substitution G A intron_variant MELA-AU 18 55866511 55866511 single base substitution C T intron_variant MELA-AU 18 55869148 55869148 single base substitution G A intron_variant MELA-AU 18 55870484 55870484 single base substitution C T intron_variant MELA-AU 18 55870542 55870542 single base substitution A T intron_variant MELA-AU 18 55871350 55871350 single base substitution G A intron_variant MELA-AU 18 55871402 55871402 single base substitution G A intron_variant MELA-AU 18 55871809 55871809 single base substitution C T intron_variant MELA-AU 18 55872018 55872018 single base substitution C T intron_variant MELA-AU 18 55873341 55873341 single base substitution T C intron_variant MELA-AU 18 55873412 55873413 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55873575 55873575 single base substitution C T intron_variant MELA-AU 18 55873615 55873615 single base substitution C T intron_variant MELA-AU 18 55873842 55873842 single base substitution G A intron_variant MELA-AU 18 55874092 55874092 single base substitution C T intron_variant MELA-AU 18 55874148 55874148 single base substitution G A intron_variant MELA-AU 18 55875316 55875316 single base substitution T A intron_variant MELA-AU 18 55875343 55875343 single base substitution T C intron_variant MELA-AU 18 55876959 55876959 single base substitution A G intron_variant MELA-AU 18 55877213 55877213 single base substitution A G intron_variant MELA-AU 18 55877871 55877871 single base substitution G C intron_variant MELA-AU 18 55880312 55880312 single base substitution G A intron_variant MELA-AU 18 55880774 55880774 single base substitution G A intron_variant MELA-AU 18 55881152 55881152 single base substitution C T intron_variant MELA-AU 18 55882205 55882205 single base substitution G C intron_variant MELA-AU 18 55882535 55882535 single base substitution C T intron_variant MELA-AU 18 55882554 55882554 single base substitution C T intron_variant MELA-AU 18 55883138 55883138 single base substitution C T intron_variant MELA-AU 18 55883167 55883167 single base substitution C T intron_variant MELA-AU 18 55883312 55883312 single base substitution G A intron_variant MELA-AU 18 55883883 55883883 single base substitution C T intron_variant MELA-AU 18 55883883 55883883 single base substitution C T upstream_gene_variant MELA-AU 18 55886233 55886233 single base substitution G A intron_variant MELA-AU 18 55886233 55886233 single base substitution G A upstream_gene_variant MELA-AU 18 55887012 55887012 single base substitution G A intron_variant MELA-AU 18 55887012 55887012 single base substitution G A upstream_gene_variant MELA-AU 18 55887092 55887092 single base substitution G A intron_variant MELA-AU 18 55887092 55887092 single base substitution G A upstream_gene_variant MELA-AU 18 55887749 55887749 single base substitution C T intron_variant MELA-AU 18 55887749 55887749 single base substitution C T upstream_gene_variant MELA-AU 18 55888284 55888284 single base substitution G A intron_variant MELA-AU 18 55888284 55888284 single base substitution G A upstream_gene_variant MELA-AU 18 55890069 55890069 single base substitution C T intron_variant MELA-AU 18 55890143 55890143 single base substitution G A intron_variant MELA-AU 18 55890447 55890447 single base substitution C A intron_variant MELA-AU 18 55894199 55894199 single base substitution C T intron_variant MELA-AU 18 55894534 55894534 single base substitution G A intron_variant MELA-AU 18 55894596 55894596 single base substitution T A intron_variant MELA-AU 18 55895938 55895938 single base substitution A G intron_variant MELA-AU 18 55896033 55896033 single base substitution C T intron_variant MELA-AU 18 55896253 55896253 single base substitution C T intron_variant MELA-AU 18 55896338 55896338 single base substitution C T intron_variant MELA-AU 18 55896941 55896941 single base substitution C T intron_variant MELA-AU 18 55898029 55898029 single base substitution C T intron_variant MELA-AU 18 55898680 55898680 single base substitution G A intron_variant MELA-AU 18 55898909 55898909 single base substitution C T intron_variant MELA-AU 18 55899027 55899027 single base substitution C T intron_variant MELA-AU 18 55899362 55899362 single base substitution G A intron_variant MELA-AU 18 55899519 55899519 single base substitution A G intron_variant MELA-AU 18 55899579 55899579 single base substitution C T intron_variant MELA-AU 18 55900018 55900018 single base substitution G A intron_variant MELA-AU 18 55900075 55900075 single base substitution T A intron_variant MELA-AU 18 55901309 55901309 single base substitution C T intron_variant MELA-AU 18 55901432 55901432 single base substitution C T intron_variant MELA-AU 18 55901490 55901490 single base substitution C T intron_variant MELA-AU 18 55901563 55901563 single base substitution C T intron_variant MELA-AU 18 55901571 55901571 single base substitution C T intron_variant MELA-AU 18 55902284 55902284 single base substitution C T intron_variant MELA-AU 18 55902755 55902755 single base substitution C T intron_variant MELA-AU 18 55902859 55902859 single base substitution C T intron_variant MELA-AU 18 55902986 55902986 single base substitution T C intron_variant MELA-AU 18 55903049 55903049 single base substitution G A intron_variant MELA-AU 18 55903627 55903628 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55903648 55903648 single base substitution C T intron_variant MELA-AU 18 55904004 55904004 single base substitution C T intron_variant MELA-AU 18 55904312 55904312 single base substitution C T intron_variant MELA-AU 18 55904332 55904332 single base substitution C A intron_variant MELA-AU 18 55904544 55904544 single base substitution C T intron_variant MELA-AU 18 55905046 55905046 single base substitution G T intron_variant MELA-AU 18 55905189 55905189 single base substitution C T intron_variant MELA-AU 18 55905561 55905561 single base substitution G A intron_variant MELA-AU 18 55906016 55906016 single base substitution C T intron_variant MELA-AU 18 55906467 55906467 single base substitution C T intron_variant MELA-AU 18 55906868 55906868 single base substitution C T intron_variant MELA-AU 18 55907014 55907015 multiple base substitution (>=2bp and <=200bp) GT AC intron_variant MELA-AU 18 55907249 55907249 single base substitution C T intron_variant MELA-AU 18 55907341 55907341 single base substitution C T intron_variant MELA-AU 18 55907356 55907356 single base substitution C T intron_variant MELA-AU 18 55907801 55907801 single base substitution C T intron_variant MELA-AU 18 55907938 55907939 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55908149 55908149 single base substitution C T intron_variant MELA-AU 18 55908433 55908433 single base substitution T C intron_variant MELA-AU 18 55908882 55908882 single base substitution C T intron_variant MELA-AU 18 55909209 55909209 single base substitution C A intron_variant MELA-AU 18 55909842 55909842 single base substitution C T intron_variant MELA-AU 18 55909842 55909842 single base substitution C T upstream_gene_variant MELA-AU 18 55910137 55910137 single base substitution C T intron_variant MELA-AU 18 55910137 55910137 single base substitution C T upstream_gene_variant MELA-AU 18 55910143 55910143 single base substitution C T intron_variant MELA-AU 18 55910143 55910143 single base substitution C T upstream_gene_variant MELA-AU 18 55910518 55910518 single base substitution C T intron_variant MELA-AU 18 55910518 55910518 single base substitution C T upstream_gene_variant MELA-AU 18 55910668 55910668 single base substitution G C intron_variant MELA-AU 18 55910668 55910668 single base substitution G C upstream_gene_variant MELA-AU 18 55912031 55912031 single base substitution G A intron_variant MELA-AU 18 55912031 55912031 single base substitution G A upstream_gene_variant MELA-AU 18 55912618 55912618 single base substitution G A intron_variant MELA-AU 18 55912618 55912618 single base substitution G A upstream_gene_variant MELA-AU 18 55912943 55912943 single base substitution C T downstream_gene_variant MELA-AU 18 55912943 55912943 single base substitution C T intron_variant MELA-AU 18 55912943 55912943 single base substitution C T upstream_gene_variant MELA-AU 18 55912947 55912947 single base substitution C T downstream_gene_variant MELA-AU 18 55912947 55912947 single base substitution C T intron_variant MELA-AU 18 55912947 55912947 single base substitution C T upstream_gene_variant MELA-AU 18 55913477 55913477 single base substitution T C downstream_gene_variant MELA-AU 18 55913477 55913477 single base substitution T C intron_variant MELA-AU 18 55913477 55913477 single base substitution T C upstream_gene_variant MELA-AU 18 55913895 55913895 single base substitution C T downstream_gene_variant MELA-AU 18 55913895 55913895 single base substitution C T intron_variant MELA-AU 18 55913895 55913895 single base substitution C T upstream_gene_variant MELA-AU 18 55914860 55914860 single base substitution C T downstream_gene_variant MELA-AU 18 55914860 55914860 single base substitution C T intron_variant MELA-AU 18 55915244 55915244 single base substitution C T downstream_gene_variant MELA-AU 18 55915244 55915244 single base substitution C T intron_variant MELA-AU 18 55915284 55915284 single base substitution C T downstream_gene_variant MELA-AU 18 55915284 55915284 single base substitution C T intron_variant MELA-AU 18 55915496 55915496 single base substitution C T downstream_gene_variant MELA-AU 18 55915496 55915496 single base substitution C T intron_variant MELA-AU 18 55915741 55915741 single base substitution C T downstream_gene_variant MELA-AU 18 55915741 55915741 single base substitution C T intron_variant MELA-AU 18 55916141 55916141 single base substitution C T 5_prime_UTR_variant MELA-AU 18 55916141 55916141 single base substitution C T downstream_gene_variant MELA-AU 18 55916141 55916141 single base substitution C T exon_variant MELA-AU 18 55916141 55916141 single base substitution C T intron_variant MELA-AU 18 55916141 55916141 single base substitution C T missense_variant P64L 191C>T MELA-AU 18 55916141 55916141 single base substitution C T missense_variant P72L 215C>T MELA-AU 18 55916147 55916147 single base substitution G A 5_prime_UTR_variant MELA-AU 18 55916147 55916147 single base substitution G A downstream_gene_variant MELA-AU 18 55916147 55916147 single base substitution G A exon_variant MELA-AU 18 55916147 55916147 single base substitution G A intron_variant MELA-AU 18 55916147 55916147 single base substitution G A stop_gained W66* 197G>A MELA-AU 18 55916147 55916147 single base substitution G A stop_gained W74* 221G>A MELA-AU 18 55916166 55916166 single base substitution C T 5_prime_UTR_variant MELA-AU 18 55916166 55916166 single base substitution C T downstream_gene_variant MELA-AU 18 55916166 55916166 single base substitution C T exon_variant MELA-AU 18 55916166 55916166 single base substitution C T intron_variant MELA-AU 18 55916166 55916166 single base substitution C T synonymous_variant F72F 216C>T MELA-AU 18 55916166 55916166 single base substitution C T synonymous_variant F80F 240C>T MELA-AU 18 55916275 55916275 single base substitution C T downstream_gene_variant MELA-AU 18 55916275 55916275 single base substitution C T intron_variant MELA-AU 18 55916349 55916349 single base substitution C T downstream_gene_variant MELA-AU 18 55916349 55916349 single base substitution C T intron_variant MELA-AU 18 55916832 55916832 single base substitution G A downstream_gene_variant MELA-AU 18 55916832 55916832 single base substitution G A intron_variant MELA-AU 18 55916943 55916943 single base substitution A G downstream_gene_variant MELA-AU 18 55916943 55916943 single base substitution A G intron_variant MELA-AU 18 55917527 55917527 single base substitution C T downstream_gene_variant MELA-AU 18 55917527 55917527 single base substitution C T intron_variant MELA-AU 18 55917553 55917554 multiple base substitution (>=2bp and <=200bp) TG AT downstream_gene_variant MELA-AU 18 55917553 55917554 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 18 55917615 55917615 single base substitution C T downstream_gene_variant MELA-AU 18 55917615 55917615 single base substitution C T intron_variant MELA-AU 18 55917916 55917916 single base substitution C T intron_variant MELA-AU 18 55917989 55917989 single base substitution C T intron_variant MELA-AU 18 55918280 55918280 single base substitution C T intron_variant MELA-AU 18 55918936 55918936 single base substitution T C intron_variant MELA-AU 18 55919334 55919334 single base substitution G A intron_variant MELA-AU 18 55919445 55919445 single base substitution C T intron_variant MELA-AU 18 55919985 55919985 single base substitution C T intron_variant MELA-AU 18 55920246 55920246 single base substitution G A intron_variant MELA-AU 18 55920278 55920278 single base substitution C T intron_variant MELA-AU 18 55920977 55920977 single base substitution G A intron_variant MELA-AU 18 55921654 55921655 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55921771 55921771 single base substitution G A intron_variant MELA-AU 18 55921899 55921899 single base substitution G A intron_variant MELA-AU 18 55922471 55922471 single base substitution G A intron_variant MELA-AU 18 55922845 55922845 single base substitution C T intron_variant MELA-AU 18 55923564 55923564 single base substitution C T intron_variant MELA-AU 18 55923707 55923707 single base substitution C T intron_variant MELA-AU 18 55923717 55923717 single base substitution G A intron_variant MELA-AU 18 55923880 55923880 single base substitution C T intron_variant MELA-AU 18 55924101 55924101 single base substitution G A intron_variant MELA-AU 18 55924301 55924301 single base substitution C T intron_variant MELA-AU 18 55924464 55924464 single base substitution C T intron_variant MELA-AU 18 55924585 55924585 single base substitution C T intron_variant MELA-AU 18 55925897 55925897 single base substitution G A intron_variant MELA-AU 18 55926044 55926044 single base substitution C T intron_variant MELA-AU 18 55927036 55927036 single base substitution C T intron_variant MELA-AU 18 55927174 55927174 single base substitution T A intron_variant MELA-AU 18 55927390 55927390 single base substitution G A intron_variant MELA-AU 18 55928405 55928405 single base substitution C T intron_variant MELA-AU 18 55928455 55928455 single base substitution C T intron_variant MELA-AU 18 55929215 55929215 single base substitution G A intron_variant MELA-AU 18 55929520 55929520 single base substitution C T intron_variant MELA-AU 18 55930170 55930170 single base substitution G A intron_variant MELA-AU 18 55930300 55930300 single base substitution C T intron_variant MELA-AU 18 55930302 55930302 single base substitution G A intron_variant MELA-AU 18 55930385 55930385 single base substitution T C intron_variant MELA-AU 18 55930588 55930588 single base substitution G A intron_variant MELA-AU 18 55931871 55931871 single base substitution C T intron_variant MELA-AU 18 55932146 55932146 single base substitution C T intron_variant MELA-AU 18 55932177 55932177 single base substitution G A intron_variant MELA-AU 18 55932619 55932619 single base substitution C T intron_variant MELA-AU 18 55932801 55932801 single base substitution G A intron_variant MELA-AU 18 55932907 55932907 single base substitution C T intron_variant MELA-AU 18 55933025 55933025 single base substitution G A intron_variant MELA-AU 18 55933326 55933326 single base substitution G A intron_variant MELA-AU 18 55933413 55933413 single base substitution C T intron_variant MELA-AU 18 55933597 55933597 single base substitution T A intron_variant MELA-AU 18 55933780 55933780 single base substitution C T intron_variant MELA-AU 18 55934112 55934112 single base substitution T C intron_variant MELA-AU 18 55934640 55934640 single base substitution G A intron_variant MELA-AU 18 55934757 55934757 single base substitution C T intron_variant MELA-AU 18 55935047 55935047 single base substitution T A intron_variant MELA-AU 18 55935639 55935639 single base substitution C T intron_variant MELA-AU 18 55936590 55936590 single base substitution C T intron_variant MELA-AU 18 55936717 55936717 single base substitution T G intron_variant MELA-AU 18 55937477 55937477 single base substitution C T intron_variant MELA-AU 18 55937879 55937880 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55938124 55938124 single base substitution C T intron_variant MELA-AU 18 55938340 55938340 single base substitution C T intron_variant MELA-AU 18 55938549 55938549 single base substitution C T intron_variant MELA-AU 18 55938686 55938686 single base substitution G A intron_variant MELA-AU 18 55938736 55938736 deletion of <=200bp T - intron_variant MELA-AU 18 55938740 55938740 single base substitution T A intron_variant MELA-AU 18 55939009 55939009 single base substitution C T intron_variant MELA-AU 18 55939066 55939066 single base substitution C T intron_variant MELA-AU 18 55939615 55939615 single base substitution C T intron_variant MELA-AU 18 55939782 55939782 single base substitution G A intron_variant MELA-AU 18 55939782 55939783 multiple base substitution (>=2bp and <=200bp) GC AT intron_variant MELA-AU 18 55939849 55939849 single base substitution G A intron_variant MELA-AU 18 55939894 55939894 single base substitution C T intron_variant MELA-AU 18 55940069 55940069 single base substitution C T intron_variant MELA-AU 18 55940145 55940145 single base substitution C T intron_variant MELA-AU 18 55940148 55940148 single base substitution G A intron_variant MELA-AU 18 55940268 55940268 single base substitution C T intron_variant MELA-AU 18 55940627 55940627 single base substitution G A intron_variant MELA-AU 18 55940976 55940976 single base substitution G A intron_variant MELA-AU 18 55941199 55941199 single base substitution C T intron_variant MELA-AU 18 55941470 55941470 single base substitution C T intron_variant MELA-AU 18 55941593 55941593 single base substitution C T intron_variant MELA-AU 18 55942665 55942665 single base substitution C T intron_variant MELA-AU 18 55943803 55943803 single base substitution C T intron_variant MELA-AU 18 55943863 55943863 single base substitution C T intron_variant MELA-AU 18 55945103 55945103 single base substitution C T intron_variant MELA-AU 18 55945188 55945188 single base substitution C T intron_variant MELA-AU 18 55945279 55945279 single base substitution C T intron_variant MELA-AU 18 55945417 55945417 single base substitution G C intron_variant MELA-AU 18 55945488 55945488 single base substitution G A intron_variant MELA-AU 18 55945645 55945645 single base substitution T C intron_variant MELA-AU 18 55945688 55945688 single base substitution C T intron_variant MELA-AU 18 55946815 55946815 single base substitution G A intron_variant MELA-AU 18 55947347 55947347 single base substitution C T intron_variant MELA-AU 18 55947427 55947427 single base substitution C T intron_variant MELA-AU 18 55947494 55947494 single base substitution C T intron_variant MELA-AU 18 55947551 55947551 single base substitution C T intron_variant MELA-AU 18 55947599 55947599 single base substitution G A intron_variant MELA-AU 18 55947742 55947742 single base substitution G A intron_variant MELA-AU 18 55949112 55949113 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55949192 55949192 single base substitution G A intron_variant MELA-AU 18 55949381 55949381 single base substitution C T intron_variant MELA-AU 18 55950045 55950045 single base substitution C T intron_variant MELA-AU 18 55951752 55951752 single base substitution G A intron_variant MELA-AU 18 55952481 55952481 single base substitution G A intron_variant MELA-AU 18 55954428 55954428 single base substitution C T intron_variant MELA-AU 18 55955187 55955187 single base substitution T A intron_variant MELA-AU 18 55955238 55955238 single base substitution G A intron_variant MELA-AU 18 55955750 55955750 single base substitution G A intron_variant MELA-AU 18 55956107 55956107 single base substitution C T intron_variant MELA-AU 18 55956197 55956197 single base substitution G A intron_variant MELA-AU 18 55956622 55956622 single base substitution T G intron_variant MELA-AU 18 55956716 55956716 single base substitution G A intron_variant MELA-AU 18 55956769 55956769 single base substitution G A intron_variant MELA-AU 18 55957028 55957029 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 55957543 55957543 single base substitution T C intron_variant MELA-AU 18 55957777 55957777 single base substitution G A intron_variant MELA-AU 18 55957811 55957811 single base substitution T C intron_variant MELA-AU 18 55958343 55958343 single base substitution C T intron_variant MELA-AU 18 55958375 55958375 single base substitution G A intron_variant MELA-AU 18 55958632 55958632 single base substitution G A intron_variant MELA-AU 18 55958899 55958899 single base substitution C T intron_variant MELA-AU 18 55959085 55959085 single base substitution C T intron_variant MELA-AU 18 55959126 55959126 single base substitution C T intron_variant MELA-AU 18 55959157 55959157 single base substitution A G intron_variant MELA-AU 18 55959592 55959592 single base substitution C A intron_variant MELA-AU 18 55959607 55959607 single base substitution C T intron_variant MELA-AU 18 55961109 55961109 single base substitution C T intron_variant MELA-AU 18 55961335 55961335 single base substitution C T intron_variant MELA-AU 18 55961808 55961808 single base substitution G A intron_variant MELA-AU 18 55962361 55962361 single base substitution C T intron_variant MELA-AU 18 55963021 55963022 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 55963143 55963143 single base substitution G A intron_variant MELA-AU 18 55963568 55963568 single base substitution C T intron_variant MELA-AU 18 55963840 55963840 single base substitution C T intron_variant MELA-AU 18 55964384 55964384 single base substitution C T intron_variant MELA-AU 18 55964750 55964750 single base substitution C T intron_variant MELA-AU 18 55965334 55965334 single base substitution A G intron_variant MELA-AU 18 55965539 55965539 single base substitution T G intron_variant MELA-AU 18 55965672 55965672 single base substitution C A intron_variant MELA-AU 18 55965759 55965759 single base substitution T A intron_variant MELA-AU 18 55966592 55966592 single base substitution C T intron_variant MELA-AU 18 55966903 55966903 single base substitution C T intron_variant MELA-AU 18 55967095 55967095 single base substitution C T intron_variant MELA-AU 18 55968166 55968166 single base substitution G A intron_variant MELA-AU 18 55968340 55968340 single base substitution T G intron_variant MELA-AU 18 55968357 55968357 single base substitution C T intron_variant MELA-AU 18 55968951 55968951 single base substitution C T intron_variant MELA-AU 18 55969125 55969125 single base substitution T A intron_variant MELA-AU 18 55969938 55969938 single base substitution G A intron_variant MELA-AU 18 55970017 55970017 single base substitution C T intron_variant MELA-AU 18 55970509 55970509 single base substitution C T intron_variant MELA-AU 18 55971056 55971056 single base substitution C T intron_variant MELA-AU 18 55971851 55971851 single base substitution C T intron_variant MELA-AU 18 55971970 55971970 single base substitution T C intron_variant MELA-AU 18 55972522 55972522 single base substitution G A intron_variant MELA-AU 18 55972834 55972834 single base substitution G A intron_variant MELA-AU 18 55972903 55972903 single base substitution T A intron_variant MELA-AU 18 55972923 55972923 single base substitution C T intron_variant MELA-AU 18 55973428 55973428 single base substitution C T intron_variant MELA-AU 18 55973827 55973827 single base substitution T C intron_variant MELA-AU 18 55973956 55973956 single base substitution C T intron_variant MELA-AU 18 55973968 55973968 single base substitution C T intron_variant MELA-AU 18 55974163 55974163 single base substitution G A intron_variant MELA-AU 18 55974379 55974379 single base substitution C T intron_variant MELA-AU 18 55974576 55974576 single base substitution C T intron_variant MELA-AU 18 55974594 55974594 single base substitution C T intron_variant MELA-AU 18 55974700 55974700 single base substitution A G intron_variant MELA-AU 18 55974759 55974759 single base substitution C T intron_variant MELA-AU 18 55974834 55974834 single base substitution C T intron_variant MELA-AU 18 55975244 55975244 single base substitution C T intron_variant MELA-AU 18 55976035 55976035 single base substitution C T intron_variant MELA-AU 18 55976409 55976409 single base substitution C T intron_variant MELA-AU 18 55977628 55977628 single base substitution T A intron_variant MELA-AU 18 55977628 55977628 single base substitution T A upstream_gene_variant MELA-AU 18 55978216 55978216 single base substitution C T intron_variant MELA-AU 18 55978216 55978216 single base substitution C T upstream_gene_variant MELA-AU 18 55978323 55978323 single base substitution C T intron_variant MELA-AU 18 55978323 55978323 single base substitution C T upstream_gene_variant MELA-AU 18 55978517 55978517 single base substitution C T intron_variant MELA-AU 18 55978517 55978517 single base substitution C T upstream_gene_variant MELA-AU 18 55978657 55978657 single base substitution G A intron_variant MELA-AU 18 55978657 55978657 single base substitution G A upstream_gene_variant MELA-AU 18 55978744 55978744 single base substitution C T intron_variant MELA-AU 18 55978744 55978744 single base substitution C T upstream_gene_variant MELA-AU 18 55978791 55978791 single base substitution T G intron_variant MELA-AU 18 55978791 55978791 single base substitution T G upstream_gene_variant MELA-AU 18 55979616 55979616 single base substitution G A intron_variant MELA-AU 18 55979616 55979616 single base substitution G A upstream_gene_variant MELA-AU 18 55979621 55979621 deletion of <=200bp A - intron_variant MELA-AU 18 55979621 55979621 deletion of <=200bp A - upstream_gene_variant MELA-AU 18 55979835 55979835 single base substitution C A intron_variant MELA-AU 18 55979835 55979835 single base substitution C A upstream_gene_variant MELA-AU 18 55980121 55980121 single base substitution G A intron_variant MELA-AU 18 55980121 55980121 single base substitution G A upstream_gene_variant MELA-AU 18 55980396 55980396 single base substitution C T intron_variant MELA-AU 18 55980396 55980396 single base substitution C T upstream_gene_variant MELA-AU 18 55980592 55980592 single base substitution C T intron_variant MELA-AU 18 55980592 55980592 single base substitution C T upstream_gene_variant MELA-AU 18 55981033 55981033 single base substitution C T intron_variant MELA-AU 18 55981033 55981033 single base substitution C T upstream_gene_variant MELA-AU 18 55981054 55981054 single base substitution C T intron_variant MELA-AU 18 55981054 55981054 single base substitution C T upstream_gene_variant MELA-AU 18 55981106 55981106 single base substitution G T intron_variant MELA-AU 18 55981106 55981106 single base substitution G T upstream_gene_variant MELA-AU 18 55981352 55981352 single base substitution A T intron_variant MELA-AU 18 55981352 55981352 single base substitution A T upstream_gene_variant MELA-AU 18 55981365 55981365 single base substitution C T intron_variant MELA-AU 18 55981365 55981365 single base substitution C T upstream_gene_variant MELA-AU 18 55981504 55981504 single base substitution C A intron_variant MELA-AU 18 55981504 55981504 single base substitution C A upstream_gene_variant MELA-AU 18 55982528 55982528 single base substitution G A intron_variant MELA-AU 18 55983087 55983087 single base substitution C T intron_variant MELA-AU 18 55983229 55983229 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 18 55983229 55983229 single base substitution C T exon_variant MELA-AU 18 55983229 55983229 single base substitution C T intron_variant MELA-AU 18 55983229 55983229 single base substitution C T synonymous_variant L105L 313C>T MELA-AU 18 55983229 55983229 single base substitution C T synonymous_variant L97L 289C>T MELA-AU 18 55985027 55985027 single base substitution G C downstream_gene_variant MELA-AU 18 55985027 55985027 single base substitution G C intron_variant MELA-AU 18 55985670 55985670 single base substitution C T downstream_gene_variant MELA-AU 18 55985670 55985670 single base substitution C T intron_variant MELA-AU 18 55985670 55985670 single base substitution C T upstream_gene_variant MELA-AU 18 55985783 55985783 single base substitution C T downstream_gene_variant MELA-AU 18 55985783 55985783 single base substitution C T intron_variant MELA-AU 18 55985783 55985783 single base substitution C T upstream_gene_variant MELA-AU 18 55985903 55985903 single base substitution C T downstream_gene_variant MELA-AU 18 55985903 55985903 single base substitution C T intron_variant MELA-AU 18 55985903 55985903 single base substitution C T upstream_gene_variant MELA-AU 18 55985943 55985943 single base substitution G A downstream_gene_variant MELA-AU 18 55985943 55985943 single base substitution G A intron_variant MELA-AU 18 55985943 55985943 single base substitution G A upstream_gene_variant MELA-AU 18 55986066 55986066 single base substitution C T downstream_gene_variant MELA-AU 18 55986066 55986066 single base substitution C T intron_variant MELA-AU 18 55986066 55986066 single base substitution C T upstream_gene_variant MELA-AU 18 55986204 55986204 single base substitution C T downstream_gene_variant MELA-AU 18 55986204 55986204 single base substitution C T intron_variant MELA-AU 18 55986204 55986204 single base substitution C T upstream_gene_variant MELA-AU 18 55986509 55986509 single base substitution C T downstream_gene_variant MELA-AU 18 55986509 55986509 single base substitution C T intron_variant MELA-AU 18 55986509 55986509 single base substitution C T upstream_gene_variant MELA-AU 18 55987486 55987486 single base substitution C T downstream_gene_variant MELA-AU 18 55987486 55987486 single base substitution C T intron_variant MELA-AU 18 55987486 55987486 single base substitution C T upstream_gene_variant MELA-AU 18 55987874 55987874 single base substitution C T downstream_gene_variant MELA-AU 18 55987874 55987874 single base substitution C T intron_variant MELA-AU 18 55987874 55987874 single base substitution C T upstream_gene_variant MELA-AU 18 55989656 55989656 single base substitution G C intron_variant MELA-AU 18 55989656 55989656 single base substitution G C splice_acceptor_variant MELA-AU 18 55989656 55989656 single base substitution G C upstream_gene_variant MELA-AU 18 55990613 55990613 single base substitution C T downstream_gene_variant MELA-AU 18 55990613 55990613 single base substitution C T intron_variant MELA-AU 18 55990662 55990662 single base substitution G A downstream_gene_variant MELA-AU 18 55990662 55990662 single base substitution G A intron_variant MELA-AU 18 55991052 55991052 single base substitution C T downstream_gene_variant MELA-AU 18 55991052 55991052 single base substitution C T intron_variant MELA-AU 18 55991324 55991324 single base substitution C T downstream_gene_variant MELA-AU 18 55991324 55991324 single base substitution C T intron_variant MELA-AU 18 55991741 55991741 single base substitution C T downstream_gene_variant MELA-AU 18 55991741 55991741 single base substitution C T intron_variant MELA-AU 18 55992737 55992737 single base substitution C T downstream_gene_variant MELA-AU 18 55992737 55992737 single base substitution C T intron_variant MELA-AU 18 55992992 55992992 single base substitution C T downstream_gene_variant MELA-AU 18 55992992 55992992 single base substitution C T intron_variant MELA-AU 18 55993051 55993051 single base substitution T A downstream_gene_variant MELA-AU 18 55993051 55993051 single base substitution T A intron_variant MELA-AU 18 55994640 55994640 single base substitution T C downstream_gene_variant MELA-AU 18 55994640 55994640 single base substitution T C intron_variant MELA-AU 18 55994640 55994640 single base substitution T C upstream_gene_variant MELA-AU 18 55995937 55995937 single base substitution C T downstream_gene_variant MELA-AU 18 55995937 55995937 single base substitution C T intron_variant MELA-AU 18 55995937 55995937 single base substitution C T upstream_gene_variant MELA-AU 18 55996334 55996334 single base substitution C T downstream_gene_variant MELA-AU 18 55996334 55996334 single base substitution C T exon_variant MELA-AU 18 55996334 55996334 single base substitution C T intron_variant MELA-AU 18 55996334 55996334 single base substitution C T missense_variant P142L 425C>T MELA-AU 18 55996334 55996334 single base substitution C T missense_variant P255L 764C>T MELA-AU 18 55996334 55996334 single base substitution C T missense_variant P263L 788C>T MELA-AU 18 55996334 55996334 single base substitution C T missense_variant P97L 290C>T MELA-AU 18 55996334 55996334 single base substitution C T upstream_gene_variant MELA-AU 18 55996370 55996370 single base substitution C T downstream_gene_variant MELA-AU 18 55996370 55996370 single base substitution C T intron_variant MELA-AU 18 55996370 55996370 single base substitution C T upstream_gene_variant MELA-AU 18 55996743 55996743 single base substitution C T downstream_gene_variant MELA-AU 18 55996743 55996743 single base substitution C T intron_variant MELA-AU 18 55996743 55996743 single base substitution C T upstream_gene_variant MELA-AU 18 55996787 55996787 single base substitution C T downstream_gene_variant MELA-AU 18 55996787 55996787 single base substitution C T intron_variant MELA-AU 18 55996787 55996787 single base substitution C T upstream_gene_variant MELA-AU 18 55997175 55997175 single base substitution C T downstream_gene_variant MELA-AU 18 55997175 55997175 single base substitution C T intron_variant MELA-AU 18 55997175 55997175 single base substitution C T upstream_gene_variant MELA-AU 18 55997372 55997372 single base substitution C T downstream_gene_variant MELA-AU 18 55997372 55997372 single base substitution C T intron_variant MELA-AU 18 55997372 55997372 single base substitution C T upstream_gene_variant MELA-AU 18 55998039 55998039 single base substitution C A downstream_gene_variant MELA-AU 18 55998039 55998039 single base substitution C A exon_variant MELA-AU 18 55998039 55998039 single base substitution C A intron_variant MELA-AU 18 55998039 55998039 single base substitution C A missense_variant P129T 385C>A MELA-AU 18 55998039 55998039 single base substitution C A missense_variant P174T 520C>A MELA-AU 18 55998039 55998039 single base substitution C A missense_variant P287T 859C>A MELA-AU 18 55998039 55998039 single base substitution C A missense_variant P295T 883C>A MELA-AU 18 55998039 55998039 single base substitution C A upstream_gene_variant MELA-AU 18 55999933 55999933 single base substitution C T downstream_gene_variant MELA-AU 18 55999933 55999933 single base substitution C T intron_variant MELA-AU 18 56000210 56000210 single base substitution A T downstream_gene_variant MELA-AU 18 56000210 56000210 single base substitution A T intron_variant MELA-AU 18 56000464 56000464 single base substitution C A downstream_gene_variant MELA-AU 18 56000464 56000464 single base substitution C A intron_variant MELA-AU 18 56001616 56001616 single base substitution C T downstream_gene_variant MELA-AU 18 56001616 56001616 single base substitution C T intron_variant MELA-AU 18 56002208 56002208 single base substitution C T downstream_gene_variant MELA-AU 18 56002208 56002208 single base substitution C T intron_variant MELA-AU 18 56003043 56003043 single base substitution G C downstream_gene_variant MELA-AU 18 56003043 56003043 single base substitution G C exon_variant MELA-AU 18 56003043 56003043 single base substitution G C intron_variant MELA-AU 18 56003453 56003453 single base substitution T C downstream_gene_variant MELA-AU 18 56003453 56003453 single base substitution T C intron_variant MELA-AU 18 56003453 56003453 single base substitution T C upstream_gene_variant MELA-AU 18 56006570 56006570 single base substitution C T downstream_gene_variant MELA-AU 18 56006570 56006570 single base substitution C T intron_variant MELA-AU 18 56006570 56006570 single base substitution C T upstream_gene_variant MELA-AU 18 56007589 56007589 single base substitution C A downstream_gene_variant MELA-AU 18 56007589 56007589 single base substitution C A intron_variant MELA-AU 18 56007589 56007589 single base substitution C A upstream_gene_variant MELA-AU 18 56008447 56008447 single base substitution G A intron_variant MELA-AU 18 56008783 56008783 single base substitution C T intron_variant MELA-AU 18 56008843 56008843 single base substitution C T intron_variant MELA-AU 18 56009359 56009359 single base substitution C T intron_variant MELA-AU 18 56009447 56009447 single base substitution C T intron_variant MELA-AU 18 56010400 56010400 single base substitution C T intron_variant MELA-AU 18 56010401 56010401 single base substitution C T intron_variant MELA-AU 18 56010463 56010463 single base substitution T G intron_variant MELA-AU 18 56010603 56010603 single base substitution G A intron_variant MELA-AU 18 56010883 56010883 single base substitution G A intron_variant MELA-AU 18 56011108 56011108 single base substitution C T intron_variant MELA-AU 18 56011188 56011188 single base substitution T A intron_variant MELA-AU 18 56011381 56011381 single base substitution T C intron_variant MELA-AU 18 56012370 56012370 single base substitution T A intron_variant MELA-AU 18 56012575 56012575 single base substitution C T intron_variant MELA-AU 18 56012717 56012717 single base substitution A G intron_variant MELA-AU 18 56013306 56013306 single base substitution C T intron_variant MELA-AU 18 56013569 56013569 single base substitution G A intron_variant MELA-AU 18 56014241 56014241 single base substitution C T intron_variant MELA-AU 18 56014879 56014879 single base substitution T A intron_variant MELA-AU 18 56015945 56015945 single base substitution C T intron_variant MELA-AU 18 56015956 56015956 single base substitution G A intron_variant MELA-AU 18 56016134 56016136 deletion of <=200bp AAT - intron_variant MELA-AU 18 56017408 56017408 single base substitution C T intron_variant MELA-AU 18 56017901 56017901 single base substitution A T intron_variant MELA-AU 18 56018195 56018195 single base substitution C T intron_variant MELA-AU 18 56018854 56018854 single base substitution T C intron_variant MELA-AU 18 56019909 56019909 single base substitution C T intron_variant MELA-AU 18 56019910 56019910 single base substitution C T intron_variant MELA-AU 18 56020334 56020334 single base substitution C A intron_variant MELA-AU 18 56020401 56020401 single base substitution C T intron_variant MELA-AU 18 56020759 56020759 single base substitution C T intron_variant MELA-AU 18 56021090 56021090 single base substitution C A intron_variant MELA-AU 18 56021968 56021968 single base substitution G A intron_variant MELA-AU 18 56022391 56022391 single base substitution C T intron_variant MELA-AU 18 56022391 56022391 single base substitution C T upstream_gene_variant MELA-AU 18 56024017 56024017 single base substitution G A intron_variant MELA-AU 18 56024017 56024017 single base substitution G A upstream_gene_variant MELA-AU 18 56024019 56024019 single base substitution G A intron_variant MELA-AU 18 56024019 56024019 single base substitution G A upstream_gene_variant MELA-AU 18 56024029 56024029 single base substitution C T intron_variant MELA-AU 18 56024029 56024029 single base substitution C T upstream_gene_variant MELA-AU 18 56024311 56024312 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 56024311 56024312 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 56024338 56024338 single base substitution C T intron_variant MELA-AU 18 56024338 56024338 single base substitution C T upstream_gene_variant MELA-AU 18 56024775 56024775 single base substitution C T intron_variant MELA-AU 18 56024775 56024775 single base substitution C T upstream_gene_variant MELA-AU 18 56025141 56025141 single base substitution C T intron_variant MELA-AU 18 56025141 56025141 single base substitution C T upstream_gene_variant MELA-AU 18 56025414 56025414 single base substitution C T intron_variant MELA-AU 18 56025414 56025414 single base substitution C T upstream_gene_variant MELA-AU 18 56025454 56025454 single base substitution C T intron_variant MELA-AU 18 56025454 56025454 single base substitution C T upstream_gene_variant MELA-AU 18 56025485 56025485 single base substitution G A intron_variant MELA-AU 18 56025485 56025485 single base substitution G A upstream_gene_variant MELA-AU 18 56025491 56025491 single base substitution T G intron_variant MELA-AU 18 56025491 56025491 single base substitution T G upstream_gene_variant MELA-AU 18 56026310 56026310 single base substitution T A intron_variant MELA-AU 18 56026310 56026310 single base substitution T A upstream_gene_variant MELA-AU 18 56026394 56026394 single base substitution C T intron_variant MELA-AU 18 56026394 56026394 single base substitution C T upstream_gene_variant MELA-AU 18 56026493 56026493 single base substitution T A intron_variant MELA-AU 18 56026493 56026493 single base substitution T A upstream_gene_variant MELA-AU 18 56026792 56026792 single base substitution C T intron_variant MELA-AU 18 56026792 56026792 single base substitution C T upstream_gene_variant MELA-AU 18 56026921 56026921 single base substitution C T intron_variant MELA-AU 18 56026921 56026921 single base substitution C T upstream_gene_variant MELA-AU 18 56027322 56027322 single base substitution T G intron_variant MELA-AU 18 56027833 56027833 single base substitution C T intron_variant MELA-AU 18 56028327 56028327 single base substitution C T intron_variant MELA-AU 18 56028352 56028352 single base substitution C T intron_variant MELA-AU 18 56028528 56028528 single base substitution C T intron_variant MELA-AU 18 56028928 56028928 single base substitution A C intron_variant MELA-AU 18 56028928 56028928 single base substitution A C upstream_gene_variant MELA-AU 18 56028930 56028930 single base substitution C A intron_variant MELA-AU 18 56028930 56028930 single base substitution C A upstream_gene_variant MELA-AU 18 56029518 56029518 single base substitution C T intron_variant MELA-AU 18 56029518 56029518 single base substitution C T upstream_gene_variant MELA-AU 18 56029880 56029880 single base substitution G A intron_variant MELA-AU 18 56029880 56029880 single base substitution G A upstream_gene_variant MELA-AU 18 56030743 56030743 single base substitution T G intron_variant MELA-AU 18 56030743 56030743 single base substitution T G upstream_gene_variant MELA-AU 18 56031375 56031375 single base substitution G A intron_variant MELA-AU 18 56031375 56031375 single base substitution G A upstream_gene_variant MELA-AU 18 56031393 56031393 single base substitution G A intron_variant MELA-AU 18 56031393 56031393 single base substitution G A upstream_gene_variant MELA-AU 18 56031497 56031497 single base substitution C T intron_variant MELA-AU 18 56031497 56031497 single base substitution C T splice_region_variant MELA-AU 18 56031497 56031497 single base substitution C T upstream_gene_variant MELA-AU 18 56031929 56031929 single base substitution A T intron_variant MELA-AU 18 56031929 56031929 single base substitution A T upstream_gene_variant MELA-AU 18 56033526 56033526 single base substitution G A downstream_gene_variant MELA-AU 18 56033526 56033526 single base substitution G A intron_variant MELA-AU 18 56033526 56033526 single base substitution G A upstream_gene_variant MELA-AU 18 56033810 56033810 single base substitution T C downstream_gene_variant MELA-AU 18 56033810 56033810 single base substitution T C intron_variant MELA-AU 18 56033810 56033810 single base substitution T C upstream_gene_variant MELA-AU 18 56033933 56033933 single base substitution C T downstream_gene_variant MELA-AU 18 56033933 56033933 single base substitution C T intron_variant MELA-AU 18 56034004 56034004 single base substitution C T downstream_gene_variant MELA-AU 18 56034004 56034004 single base substitution C T intron_variant MELA-AU 18 56034485 56034485 single base substitution C T downstream_gene_variant MELA-AU 18 56034485 56034485 single base substitution C T intron_variant MELA-AU 18 56035074 56035074 single base substitution C T downstream_gene_variant MELA-AU 18 56035074 56035074 single base substitution C T exon_variant MELA-AU 18 56035074 56035074 single base substitution C T intron_variant MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A384A 1152C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A579A 1737C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A580A 1740C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A599A 1797C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A616A 1848C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A656A 1968C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A692A 2076C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A700A 2100C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A712A 2136C>T MELA-AU 18 56035074 56035074 single base substitution C T synonymous_variant A720A 2160C>T MELA-AU 18 56035477 56035477 single base substitution C T downstream_gene_variant MELA-AU 18 56035477 56035477 single base substitution C T intron_variant MELA-AU 18 56035477 56035477 single base substitution C T upstream_gene_variant MELA-AU 18 56035479 56035479 single base substitution C T downstream_gene_variant MELA-AU 18 56035479 56035479 single base substitution C T intron_variant MELA-AU 18 56035479 56035479 single base substitution C T upstream_gene_variant MELA-AU 18 56035641 56035641 single base substitution C T downstream_gene_variant MELA-AU 18 56035641 56035641 single base substitution C T intron_variant MELA-AU 18 56035641 56035641 single base substitution C T upstream_gene_variant MELA-AU 18 56036167 56036167 single base substitution C T downstream_gene_variant MELA-AU 18 56036167 56036167 single base substitution C T intron_variant MELA-AU 18 56036167 56036167 single base substitution C T upstream_gene_variant MELA-AU 18 56036261 56036261 single base substitution C T downstream_gene_variant MELA-AU 18 56036261 56036261 single base substitution C T intron_variant MELA-AU 18 56036261 56036261 single base substitution C T upstream_gene_variant MELA-AU 18 56036500 56036500 single base substitution G C downstream_gene_variant MELA-AU 18 56036500 56036500 single base substitution G C intron_variant MELA-AU 18 56036500 56036500 single base substitution G C upstream_gene_variant MELA-AU 18 56036572 56036572 single base substitution T G downstream_gene_variant MELA-AU 18 56036572 56036572 single base substitution T G intron_variant MELA-AU 18 56036572 56036572 single base substitution T G upstream_gene_variant MELA-AU 18 56037164 56037164 single base substitution C T downstream_gene_variant MELA-AU 18 56037164 56037164 single base substitution C T intron_variant MELA-AU 18 56037164 56037164 single base substitution C T upstream_gene_variant MELA-AU 18 56037469 56037469 single base substitution C T downstream_gene_variant MELA-AU 18 56037469 56037469 single base substitution C T intron_variant MELA-AU 18 56037469 56037469 single base substitution C T upstream_gene_variant MELA-AU 18 56038197 56038197 single base substitution T A downstream_gene_variant MELA-AU 18 56038197 56038197 single base substitution T A intron_variant MELA-AU 18 56038197 56038197 single base substitution T A upstream_gene_variant MELA-AU 18 56038338 56038338 single base substitution G A downstream_gene_variant MELA-AU 18 56038338 56038338 single base substitution G A intron_variant MELA-AU 18 56038338 56038338 single base substitution G A upstream_gene_variant MELA-AU 18 56039191 56039191 single base substitution G A intron_variant MELA-AU 18 56039191 56039191 single base substitution G A upstream_gene_variant MELA-AU 18 56039588 56039588 single base substitution C T intron_variant MELA-AU 18 56039588 56039588 single base substitution C T upstream_gene_variant MELA-AU 18 56040627 56040627 single base substitution C T downstream_gene_variant MELA-AU 18 56040627 56040627 single base substitution C T intron_variant MELA-AU 18 56041682 56041682 single base substitution C T downstream_gene_variant MELA-AU 18 56041682 56041682 single base substitution C T intron_variant MELA-AU 18 56042386 56042386 single base substitution C T downstream_gene_variant MELA-AU 18 56042386 56042386 single base substitution C T intron_variant MELA-AU 18 56042416 56042416 single base substitution C T downstream_gene_variant MELA-AU 18 56042416 56042416 single base substitution C T intron_variant MELA-AU 18 56042886 56042886 single base substitution C A downstream_gene_variant MELA-AU 18 56042886 56042886 single base substitution C A intron_variant MELA-AU 18 56043003 56043003 single base substitution G A downstream_gene_variant MELA-AU 18 56043003 56043003 single base substitution G A intron_variant MELA-AU 18 56043752 56043752 single base substitution C T downstream_gene_variant MELA-AU 18 56043752 56043752 single base substitution C T intron_variant MELA-AU 18 56043843 56043843 single base substitution C T downstream_gene_variant MELA-AU 18 56043843 56043843 single base substitution C T intron_variant MELA-AU 18 56043855 56043855 single base substitution C T downstream_gene_variant MELA-AU 18 56043855 56043855 single base substitution C T intron_variant MELA-AU 18 56044009 56044009 single base substitution C T downstream_gene_variant MELA-AU 18 56044009 56044009 single base substitution C T intron_variant MELA-AU 18 56044126 56044126 single base substitution C T downstream_gene_variant MELA-AU 18 56044126 56044126 single base substitution C T intron_variant MELA-AU 18 56044141 56044141 single base substitution C T downstream_gene_variant MELA-AU 18 56044141 56044141 single base substitution C T intron_variant MELA-AU 18 56044475 56044475 single base substitution C T downstream_gene_variant MELA-AU 18 56044475 56044475 single base substitution C T intron_variant MELA-AU 18 56044501 56044501 single base substitution C T downstream_gene_variant MELA-AU 18 56044501 56044501 single base substitution C T intron_variant MELA-AU 18 56045046 56045046 single base substitution G A downstream_gene_variant MELA-AU 18 56045046 56045046 single base substitution G A intron_variant MELA-AU 18 56045173 56045173 single base substitution C T downstream_gene_variant MELA-AU 18 56045173 56045173 single base substitution C T intron_variant MELA-AU 18 56045197 56045197 single base substitution G A downstream_gene_variant MELA-AU 18 56045197 56045197 single base substitution G A intron_variant MELA-AU 18 56045354 56045354 single base substitution C T downstream_gene_variant MELA-AU 18 56045354 56045354 single base substitution C T intron_variant MELA-AU 18 56045955 56045955 single base substitution C T intron_variant MELA-AU 18 56045967 56045967 single base substitution C T intron_variant MELA-AU 18 56045973 56045973 single base substitution C T intron_variant MELA-AU 18 56046356 56046356 single base substitution C T intron_variant MELA-AU 18 56046470 56046470 single base substitution T A intron_variant MELA-AU 18 56046936 56046936 single base substitution G A intron_variant MELA-AU 18 56047092 56047092 single base substitution C T intron_variant MELA-AU 18 56047105 56047106 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 56047305 56047305 single base substitution T C intron_variant MELA-AU 18 56047698 56047698 single base substitution G A intron_variant MELA-AU 18 56048353 56048353 single base substitution T A intron_variant MELA-AU 18 56048591 56048591 single base substitution C T intron_variant MELA-AU 18 56048788 56048788 single base substitution G A intron_variant MELA-AU 18 56050182 56050182 single base substitution C T intron_variant MELA-AU 18 56050182 56050182 single base substitution C T upstream_gene_variant MELA-AU 18 56050393 56050393 single base substitution C T intron_variant MELA-AU 18 56050393 56050393 single base substitution C T upstream_gene_variant MELA-AU 18 56051160 56051160 single base substitution C T intron_variant MELA-AU 18 56051160 56051160 single base substitution C T upstream_gene_variant MELA-AU 18 56051978 56051978 single base substitution A G intron_variant MELA-AU 18 56051978 56051978 single base substitution A G upstream_gene_variant MELA-AU 18 56052075 56052075 single base substitution G A intron_variant MELA-AU 18 56052075 56052075 single base substitution G A upstream_gene_variant MELA-AU 18 56052205 56052205 single base substitution C T intron_variant MELA-AU 18 56052205 56052205 single base substitution C T upstream_gene_variant MELA-AU 18 56052296 56052296 single base substitution G A intron_variant MELA-AU 18 56052296 56052296 single base substitution G A upstream_gene_variant MELA-AU 18 56052426 56052426 single base substitution C T intron_variant MELA-AU 18 56052426 56052426 single base substitution C T upstream_gene_variant MELA-AU 18 56052644 56052644 single base substitution C T intron_variant MELA-AU 18 56052644 56052644 single base substitution C T upstream_gene_variant MELA-AU 18 56053614 56053614 single base substitution T A intron_variant MELA-AU 18 56053614 56053614 single base substitution T A upstream_gene_variant MELA-AU 18 56053730 56053730 single base substitution C T intron_variant MELA-AU 18 56053730 56053730 single base substitution C T upstream_gene_variant MELA-AU 18 56054296 56054296 single base substitution C T intron_variant MELA-AU 18 56054296 56054296 single base substitution C T upstream_gene_variant MELA-AU 18 56054324 56054324 single base substitution G T intron_variant MELA-AU 18 56054324 56054324 single base substitution G T upstream_gene_variant MELA-AU 18 56054819 56054819 single base substitution C T intron_variant MELA-AU 18 56054819 56054819 single base substitution C T upstream_gene_variant MELA-AU 18 56055576 56055576 single base substitution T A exon_variant MELA-AU 18 56055576 56055576 single base substitution T A intron_variant MELA-AU 18 56055576 56055576 single base substitution T A upstream_gene_variant MELA-AU 18 56055673 56055673 single base substitution T C exon_variant MELA-AU 18 56055673 56055673 single base substitution T C intron_variant MELA-AU 18 56055673 56055673 single base substitution T C upstream_gene_variant MELA-AU 18 56055720 56055720 single base substitution C T exon_variant MELA-AU 18 56055720 56055720 single base substitution C T intron_variant MELA-AU 18 56055720 56055720 single base substitution C T upstream_gene_variant MELA-AU 18 56056015 56056015 single base substitution C T exon_variant MELA-AU 18 56056015 56056015 single base substitution C T intron_variant MELA-AU 18 56056015 56056015 single base substitution C T upstream_gene_variant MELA-AU 18 56056081 56056081 single base substitution G A exon_variant MELA-AU 18 56056081 56056081 single base substitution G A intron_variant MELA-AU 18 56056081 56056081 single base substitution G A upstream_gene_variant MELA-AU 18 56056665 56056665 single base substitution C T exon_variant MELA-AU 18 56056665 56056665 single base substitution C T intron_variant MELA-AU 18 56056665 56056665 single base substitution C T upstream_gene_variant MELA-AU 18 56057364 56057364 single base substitution C T downstream_gene_variant MELA-AU 18 56057364 56057364 single base substitution C T exon_variant MELA-AU 18 56057364 56057364 single base substitution C T intron_variant MELA-AU 18 56057387 56057387 single base substitution G A downstream_gene_variant MELA-AU 18 56057387 56057387 single base substitution G A exon_variant MELA-AU 18 56057387 56057387 single base substitution G A intron_variant MELA-AU 18 56057801 56057801 single base substitution T C downstream_gene_variant MELA-AU 18 56057801 56057801 single base substitution T C exon_variant MELA-AU 18 56057801 56057801 single base substitution T C intron_variant MELA-AU 18 56058277 56058277 single base substitution T A downstream_gene_variant MELA-AU 18 56058277 56058277 single base substitution T A intron_variant MELA-AU 18 56059228 56059228 single base substitution C T downstream_gene_variant MELA-AU 18 56059228 56059228 single base substitution C T intron_variant MELA-AU 18 56059329 56059329 single base substitution C T downstream_gene_variant MELA-AU 18 56059329 56059329 single base substitution C T intron_variant MELA-AU 18 56060387 56060387 single base substitution C T downstream_gene_variant MELA-AU 18 56060387 56060387 single base substitution C T intron_variant MELA-AU 18 56060438 56060438 single base substitution C T downstream_gene_variant MELA-AU 18 56060438 56060438 single base substitution C T intron_variant MELA-AU 18 56060507 56060507 single base substitution C T downstream_gene_variant MELA-AU 18 56060507 56060507 single base substitution C T intron_variant MELA-AU 18 56060715 56060715 single base substitution C T downstream_gene_variant MELA-AU 18 56060715 56060715 single base substitution C T intron_variant MELA-AU 18 56061228 56061228 single base substitution A C downstream_gene_variant MELA-AU 18 56061228 56061228 single base substitution A C intron_variant MELA-AU 18 56061413 56061413 single base substitution T G downstream_gene_variant MELA-AU 18 56061413 56061413 single base substitution T G intron_variant MELA-AU 18 56061690 56061690 single base substitution C T downstream_gene_variant MELA-AU 18 56061690 56061690 single base substitution C T intron_variant MELA-AU 18 56061695 56061695 single base substitution G A downstream_gene_variant MELA-AU 18 56061695 56061695 single base substitution G A intron_variant MELA-AU 18 56062463 56062463 single base substitution C G downstream_gene_variant MELA-AU 18 56062463 56062463 single base substitution C G intron_variant MELA-AU 18 56062512 56062512 single base substitution C T downstream_gene_variant MELA-AU 18 56062512 56062512 single base substitution C T intron_variant MELA-AU 18 56063052 56063052 single base substitution A G downstream_gene_variant MELA-AU 18 56063052 56063052 single base substitution A G intron_variant MELA-AU 18 56063119 56063119 single base substitution C T downstream_gene_variant MELA-AU 18 56063119 56063119 single base substitution C T intron_variant MELA-AU 18 56063338 56063338 single base substitution T A downstream_gene_variant MELA-AU 18 56063338 56063338 single base substitution T A intron_variant MELA-AU 18 56063651 56063651 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56063651 56063651 single base substitution C T downstream_gene_variant MELA-AU 18 56063651 56063651 single base substitution C T exon_variant MELA-AU 18 56064275 56064275 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56064275 56064275 single base substitution C T downstream_gene_variant MELA-AU 18 56064275 56064275 single base substitution C T exon_variant MELA-AU 18 56064626 56064626 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56064626 56064626 single base substitution C T downstream_gene_variant MELA-AU 18 56064626 56064626 single base substitution C T exon_variant MELA-AU 18 56065430 56065430 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56065430 56065430 single base substitution C T downstream_gene_variant MELA-AU 18 56065506 56065506 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56065506 56065506 single base substitution C T downstream_gene_variant MELA-AU 18 56066371 56066371 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56066371 56066371 single base substitution C T downstream_gene_variant MELA-AU 18 56066417 56066417 single base substitution G A 3_prime_UTR_variant MELA-AU 18 56066417 56066417 single base substitution G A downstream_gene_variant MELA-AU 18 56066428 56066428 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56066428 56066428 single base substitution C T downstream_gene_variant MELA-AU 18 56066484 56066484 single base substitution A T 3_prime_UTR_variant MELA-AU 18 56066484 56066484 single base substitution A T downstream_gene_variant MELA-AU 18 56067357 56067357 single base substitution G A 3_prime_UTR_variant MELA-AU 18 56067357 56067357 single base substitution G A downstream_gene_variant MELA-AU 18 56067881 56067881 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56067881 56067881 single base substitution C T downstream_gene_variant MELA-AU 18 56068259 56068259 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56068259 56068259 single base substitution C T downstream_gene_variant MELA-AU 18 56068465 56068465 single base substitution G A 3_prime_UTR_variant MELA-AU 18 56068465 56068465 single base substitution G A downstream_gene_variant MELA-AU 18 56068483 56068483 single base substitution A G 3_prime_UTR_variant MELA-AU 18 56068483 56068483 single base substitution A G downstream_gene_variant MELA-AU 18 56068495 56068495 single base substitution A G 3_prime_UTR_variant MELA-AU 18 56068495 56068495 single base substitution A G downstream_gene_variant MELA-AU 18 56069745 56069745 single base substitution C T downstream_gene_variant MELA-AU 18 56069999 56069999 single base substitution G A downstream_gene_variant MELA-AU 18 56070252 56070252 single base substitution G A downstream_gene_variant MELA-AU 18 56070409 56070409 single base substitution T C downstream_gene_variant MELA-AU 18 56070579 56070579 single base substitution C T downstream_gene_variant MELA-AU 18 56070668 56070668 single base substitution C T downstream_gene_variant MELA-AU 18 56071080 56071080 single base substitution G A downstream_gene_variant MELA-AU 18 56072041 56072041 single base substitution A C downstream_gene_variant MELA-AU 18 56072148 56072148 single base substitution C T downstream_gene_variant MELA-AU 18 56072436 56072436 single base substitution G A downstream_gene_variant MELA-AU 18 56072522 56072522 single base substitution A G downstream_gene_variant MELA-AU 18 56073003 56073003 single base substitution G A downstream_gene_variant MELA-AU 18 56073289 56073289 single base substitution A T downstream_gene_variant MELA-AU 18 56073332 56073332 single base substitution G A downstream_gene_variant ORCA-IN 18 55740101 55740114 deletion of <=200bp CGCGCACACACACA - intron_variant ORCA-IN 18 55743311 55743311 single base substitution G C intron_variant ORCA-IN 18 55747531 55747531 single base substitution C T intron_variant ORCA-IN 18 55813514 55813514 single base substitution G T intron_variant ORCA-IN 18 55813514 55813514 single base substitution G T upstream_gene_variant ORCA-IN 18 55826266 55826266 single base substitution G C intron_variant ORCA-IN 18 55838714 55838714 single base substitution C T intron_variant ORCA-IN 18 55874827 55874827 single base substitution C A intron_variant ORCA-IN 18 55903609 55903609 deletion of <=200bp T - intron_variant ORCA-IN 18 55949389 55949389 single base substitution C T intron_variant ORCA-IN 18 55963014 55963014 single base substitution G C intron_variant ORCA-IN 18 55964571 55964571 single base substitution C T intron_variant ORCA-IN 18 55996330 55996330 single base substitution G A downstream_gene_variant ORCA-IN 18 55996330 55996330 single base substitution G A exon_variant ORCA-IN 18 55996330 55996330 single base substitution G A intron_variant ORCA-IN 18 55996330 55996330 single base substitution G A missense_variant E141K 421G>A ORCA-IN 18 55996330 55996330 single base substitution G A missense_variant E254K 760G>A ORCA-IN 18 55996330 55996330 single base substitution G A missense_variant E262K 784G>A ORCA-IN 18 55996330 55996330 single base substitution G A missense_variant E96K 286G>A ORCA-IN 18 55996330 55996330 single base substitution G A upstream_gene_variant ORCA-IN 18 56019350 56019350 single base substitution G T intron_variant ORCA-IN 18 56036706 56036706 single base substitution A C downstream_gene_variant ORCA-IN 18 56036706 56036706 single base substitution A C intron_variant ORCA-IN 18 56036706 56036706 single base substitution A C upstream_gene_variant OV-AU 18 55716167 55716167 single base substitution G A intron_variant OV-AU 18 55719095 55719095 single base substitution A G intron_variant OV-AU 18 55719095 55719095 single base substitution A G upstream_gene_variant OV-AU 18 55742665 55742665 single base substitution G C intron_variant OV-AU 18 55744907 55744907 single base substitution C T intron_variant OV-AU 18 55748313 55748313 single base substitution C G intron_variant OV-AU 18 55749043 55749043 single base substitution C T intron_variant OV-AU 18 55749105 55749105 single base substitution A G intron_variant OV-AU 18 55753225 55753225 single base substitution T C intron_variant OV-AU 18 55753225 55753225 single base substitution T C upstream_gene_variant OV-AU 18 55762588 55762588 single base substitution A T intron_variant OV-AU 18 55763202 55763202 single base substitution T C intron_variant OV-AU 18 55768655 55768655 single base substitution T C intron_variant OV-AU 18 55772691 55772691 single base substitution C G intron_variant OV-AU 18 55788726 55788726 single base substitution C G intron_variant OV-AU 18 55793824 55793824 single base substitution A G intron_variant OV-AU 18 55799014 55799014 single base substitution C A intron_variant OV-AU 18 55802476 55802476 single base substitution T C intron_variant OV-AU 18 55802912 55802912 single base substitution T A intron_variant OV-AU 18 55807657 55807657 single base substitution A T intron_variant OV-AU 18 55813043 55813043 single base substitution C G intron_variant OV-AU 18 55813043 55813043 single base substitution C G upstream_gene_variant OV-AU 18 55815427 55815427 single base substitution T A intron_variant OV-AU 18 55815427 55815427 single base substitution T A upstream_gene_variant OV-AU 18 55821089 55821089 single base substitution C G intron_variant OV-AU 18 55834544 55834544 single base substitution G C downstream_gene_variant OV-AU 18 55834544 55834544 single base substitution G C intron_variant OV-AU 18 55835169 55835169 single base substitution T G downstream_gene_variant OV-AU 18 55835169 55835169 single base substitution T G intron_variant OV-AU 18 55862059 55862059 single base substitution G A intron_variant OV-AU 18 55862059 55862059 single base substitution G A upstream_gene_variant OV-AU 18 55864132 55864132 single base substitution G C intron_variant OV-AU 18 55864132 55864132 single base substitution G C upstream_gene_variant OV-AU 18 55883763 55883763 single base substitution G A intron_variant OV-AU 18 55884053 55884053 single base substitution C G intron_variant OV-AU 18 55884053 55884053 single base substitution C G upstream_gene_variant OV-AU 18 55889403 55889403 single base substitution A G intron_variant OV-AU 18 55895754 55895754 single base substitution G A intron_variant OV-AU 18 55897180 55897180 single base substitution C A intron_variant OV-AU 18 55901344 55901344 single base substitution T C intron_variant OV-AU 18 55903384 55903384 single base substitution T G intron_variant OV-AU 18 55907680 55907680 single base substitution C T intron_variant OV-AU 18 55912742 55912742 single base substitution T C downstream_gene_variant OV-AU 18 55912742 55912742 single base substitution T C intron_variant OV-AU 18 55912742 55912742 single base substitution T C splice_donor_variant OV-AU 18 55912742 55912742 single base substitution T C upstream_gene_variant OV-AU 18 55919021 55919021 single base substitution G C intron_variant OV-AU 18 55919170 55919170 single base substitution T A intron_variant OV-AU 18 55923067 55923067 single base substitution G A intron_variant OV-AU 18 55947957 55947957 single base substitution G A intron_variant OV-AU 18 55948357 55948357 single base substitution G T intron_variant OV-AU 18 55952265 55952265 single base substitution C T intron_variant OV-AU 18 55996315 55996315 single base substitution G A downstream_gene_variant OV-AU 18 55996315 55996315 single base substitution G A exon_variant OV-AU 18 55996315 55996315 single base substitution G A intron_variant OV-AU 18 55996315 55996315 single base substitution G A missense_variant E136K 406G>A OV-AU 18 55996315 55996315 single base substitution G A missense_variant E249K 745G>A OV-AU 18 55996315 55996315 single base substitution G A missense_variant E257K 769G>A OV-AU 18 55996315 55996315 single base substitution G A missense_variant E91K 271G>A OV-AU 18 55996315 55996315 single base substitution G A upstream_gene_variant OV-AU 18 55999654 55999654 single base substitution C T downstream_gene_variant OV-AU 18 55999654 55999654 single base substitution C T intron_variant OV-AU 18 56004991 56004991 single base substitution C G downstream_gene_variant OV-AU 18 56004991 56004991 single base substitution C G intron_variant OV-AU 18 56004991 56004991 single base substitution C G upstream_gene_variant OV-AU 18 56008383 56008383 single base substitution G C exon_variant OV-AU 18 56008383 56008383 single base substitution G C intron_variant OV-AU 18 56008383 56008383 single base substitution G C missense_variant W272C 816G>C OV-AU 18 56008383 56008383 single base substitution G C missense_variant W292C 876G>C OV-AU 18 56008383 56008383 single base substitution G C missense_variant W385C 1155G>C OV-AU 18 56008383 56008383 single base substitution G C missense_variant W393C 1179G>C OV-AU 18 56008383 56008383 single base substitution G C missense_variant W405C 1215G>C OV-AU 18 56008383 56008383 single base substitution G C missense_variant W413C 1239G>C OV-AU 18 56012627 56012627 single base substitution T C intron_variant OV-AU 18 56012859 56012859 single base substitution T A intron_variant OV-AU 18 56021069 56021069 single base substitution C A intron_variant OV-AU 18 56025684 56025684 single base substitution A G intron_variant OV-AU 18 56025684 56025684 single base substitution A G upstream_gene_variant OV-AU 18 56037995 56037995 single base substitution A G downstream_gene_variant OV-AU 18 56037995 56037995 single base substitution A G intron_variant OV-AU 18 56037995 56037995 single base substitution A G upstream_gene_variant OV-AU 18 56042160 56042160 single base substitution C T downstream_gene_variant OV-AU 18 56042160 56042160 single base substitution C T intron_variant OV-AU 18 56047626 56047626 single base substitution G A intron_variant OV-AU 18 56048644 56048644 single base substitution A C intron_variant PACA-AU 18 55712257 55712257 single base substitution G A intron_variant PACA-AU 18 55712257 55712257 single base substitution G A upstream_gene_variant PACA-AU 18 55713637 55713637 insertion of <=200bp - G exon_variant PACA-AU 18 55713637 55713637 insertion of <=200bp - G intron_variant PACA-AU 18 55713637 55713637 insertion of <=200bp - G upstream_gene_variant PACA-AU 18 55718331 55718331 single base substitution A T intron_variant PACA-AU 18 55718331 55718331 single base substitution A T upstream_gene_variant PACA-AU 18 55725115 55725115 single base substitution C T intron_variant PACA-AU 18 55731976 55731976 single base substitution G T intron_variant PACA-AU 18 55735202 55735202 single base substitution T G intron_variant PACA-AU 18 55737636 55737636 single base substitution G A intron_variant PACA-AU 18 55740706 55740706 single base substitution G A intron_variant PACA-AU 18 55748085 55748085 single base substitution G A intron_variant PACA-AU 18 55749338 55749338 single base substitution T A intron_variant PACA-AU 18 55749790 55749790 single base substitution G A intron_variant PACA-AU 18 55755496 55755496 single base substitution C T intron_variant PACA-AU 18 55755496 55755496 single base substitution C T upstream_gene_variant PACA-AU 18 55762313 55762313 single base substitution C T intron_variant PACA-AU 18 55763652 55763652 single base substitution A T intron_variant PACA-AU 18 55763657 55763657 single base substitution A T intron_variant PACA-AU 18 55770367 55770367 single base substitution C T intron_variant PACA-AU 18 55773097 55773097 single base substitution G C intron_variant PACA-AU 18 55781226 55781226 single base substitution G A intron_variant PACA-AU 18 55784600 55784600 single base substitution T C intron_variant PACA-AU 18 55785765 55785765 single base substitution C T intron_variant PACA-AU 18 55791412 55791412 single base substitution G A intron_variant PACA-AU 18 55799303 55799303 single base substitution C G intron_variant PACA-AU 18 55799317 55799317 single base substitution A T intron_variant PACA-AU 18 55806856 55806856 single base substitution G A intron_variant PACA-AU 18 55815494 55815494 single base substitution T C intron_variant PACA-AU 18 55815494 55815494 single base substitution T C upstream_gene_variant PACA-AU 18 55816819 55816819 deletion of <=200bp G - intron_variant PACA-AU 18 55819339 55819339 single base substitution T A intron_variant PACA-AU 18 55821028 55821028 single base substitution G A intron_variant PACA-AU 18 55824029 55824029 single base substitution C G intron_variant PACA-AU 18 55846481 55846481 single base substitution A T intron_variant PACA-AU 18 55851500 55851500 single base substitution C T intron_variant PACA-AU 18 55861716 55861716 single base substitution T A intron_variant PACA-AU 18 55861716 55861716 single base substitution T A upstream_gene_variant PACA-AU 18 55862852 55862852 single base substitution C T 5_prime_UTR_variant PACA-AU 18 55862852 55862852 single base substitution C T intron_variant PACA-AU 18 55862852 55862852 single base substitution C T upstream_gene_variant PACA-AU 18 55867993 55867993 insertion of <=200bp - A intron_variant PACA-AU 18 55873213 55873213 single base substitution G C intron_variant PACA-AU 18 55877660 55877660 single base substitution G C intron_variant PACA-AU 18 55884389 55884389 single base substitution A G intron_variant PACA-AU 18 55884389 55884389 single base substitution A G upstream_gene_variant PACA-AU 18 55887762 55887762 single base substitution C T intron_variant PACA-AU 18 55887762 55887762 single base substitution C T upstream_gene_variant PACA-AU 18 55891176 55891176 single base substitution A G intron_variant PACA-AU 18 55898962 55898962 insertion of <=200bp - T intron_variant PACA-AU 18 55903820 55903820 single base substitution C A intron_variant PACA-AU 18 55904283 55904283 single base substitution C T intron_variant PACA-AU 18 55905264 55905264 single base substitution T C intron_variant PACA-AU 18 55905265 55905265 single base substitution A T intron_variant PACA-AU 18 55913774 55913774 single base substitution G A downstream_gene_variant PACA-AU 18 55913774 55913774 single base substitution G A intron_variant PACA-AU 18 55913774 55913774 single base substitution G A upstream_gene_variant PACA-AU 18 55918767 55918767 single base substitution T A intron_variant PACA-AU 18 55918799 55918799 insertion of <=200bp - AC intron_variant PACA-AU 18 55919177 55919177 single base substitution G A intron_variant PACA-AU 18 55919510 55919510 single base substitution A T intron_variant PACA-AU 18 55919511 55919511 single base substitution G T intron_variant PACA-AU 18 55923930 55923930 insertion of <=200bp - G intron_variant PACA-AU 18 55940968 55940968 single base substitution C G intron_variant PACA-AU 18 55947452 55947452 single base substitution G A intron_variant PACA-AU 18 55961397 55961397 single base substitution C T intron_variant PACA-AU 18 56019360 56019360 single base substitution C A intron_variant PACA-AU 18 56023523 56023523 single base substitution T C intron_variant PACA-AU 18 56023523 56023523 single base substitution T C upstream_gene_variant PACA-AU 18 56023524 56023524 single base substitution T C intron_variant PACA-AU 18 56023524 56023524 single base substitution T C upstream_gene_variant PACA-AU 18 56033019 56033019 single base substitution C T intron_variant PACA-AU 18 56033019 56033019 single base substitution C T upstream_gene_variant PACA-AU 18 56047529 56047529 insertion of <=200bp - TTTA intron_variant PACA-AU 18 56069150 56069150 single base substitution G C downstream_gene_variant PACA-AU 18 56070655 56070655 single base substitution G T downstream_gene_variant PACA-CA 18 55726244 55726244 single base substitution C G intron_variant PACA-CA 18 55728606 55728606 single base substitution A T intron_variant PACA-CA 18 55730914 55730914 single base substitution C T intron_variant PACA-CA 18 55732162 55732162 single base substitution G A intron_variant PACA-CA 18 55732222 55732222 single base substitution C A intron_variant PACA-CA 18 55734454 55734454 single base substitution A G intron_variant PACA-CA 18 55734798 55734798 single base substitution G A intron_variant PACA-CA 18 55737719 55737719 single base substitution A T intron_variant PACA-CA 18 55738265 55738265 insertion of <=200bp - A intron_variant PACA-CA 18 55748779 55748779 single base substitution T C intron_variant PACA-CA 18 55757261 55757261 deletion of <=200bp G - intron_variant PACA-CA 18 55757261 55757261 deletion of <=200bp G - upstream_gene_variant PACA-CA 18 55764282 55764282 single base substitution C G intron_variant PACA-CA 18 55764876 55764876 single base substitution A G intron_variant PACA-CA 18 55769208 55769208 single base substitution T C intron_variant PACA-CA 18 55770413 55770413 single base substitution C G intron_variant PACA-CA 18 55775906 55775906 insertion of <=200bp - C intron_variant PACA-CA 18 55778114 55778114 single base substitution T C intron_variant PACA-CA 18 55781579 55781579 insertion of <=200bp - AT intron_variant PACA-CA 18 55797464 55797464 single base substitution A G intron_variant PACA-CA 18 55799428 55799428 single base substitution T A intron_variant PACA-CA 18 55800577 55800577 single base substitution C G intron_variant PACA-CA 18 55801306 55801306 single base substitution C T intron_variant PACA-CA 18 55807689 55807689 single base substitution C G intron_variant PACA-CA 18 55816084 55816084 single base substitution G T intron_variant PACA-CA 18 55816084 55816084 single base substitution G T upstream_gene_variant PACA-CA 18 55816295 55816295 single base substitution C T intron_variant PACA-CA 18 55816295 55816295 single base substitution C T upstream_gene_variant PACA-CA 18 55818104 55818104 single base substitution A G intron_variant PACA-CA 18 55822125 55822125 single base substitution T C intron_variant PACA-CA 18 55822688 55822688 single base substitution C A intron_variant PACA-CA 18 55836665 55836665 single base substitution C T downstream_gene_variant PACA-CA 18 55836665 55836665 single base substitution C T intron_variant PACA-CA 18 55837534 55837534 single base substitution A G downstream_gene_variant PACA-CA 18 55837534 55837534 single base substitution A G intron_variant PACA-CA 18 55838842 55838842 single base substitution G A intron_variant PACA-CA 18 55848135 55848135 single base substitution G T intron_variant PACA-CA 18 55860758 55860758 single base substitution G A intron_variant PACA-CA 18 55860758 55860758 single base substitution G A upstream_gene_variant PACA-CA 18 55861097 55861097 single base substitution T C intron_variant PACA-CA 18 55861097 55861097 single base substitution T C upstream_gene_variant PACA-CA 18 55863117 55863117 single base substitution T G intron_variant PACA-CA 18 55863117 55863117 single base substitution T G upstream_gene_variant PACA-CA 18 55872730 55872730 single base substitution A G intron_variant PACA-CA 18 55873537 55873537 single base substitution A G intron_variant PACA-CA 18 55874322 55874322 single base substitution C T intron_variant PACA-CA 18 55875870 55875870 single base substitution T G intron_variant PACA-CA 18 55880008 55880008 insertion of <=200bp - ATATATTTTA intron_variant PACA-CA 18 55882649 55882649 single base substitution C A intron_variant PACA-CA 18 55892370 55892370 insertion of <=200bp - G intron_variant PACA-CA 18 55894815 55894815 single base substitution G C intron_variant PACA-CA 18 55901327 55901329 deletion of <=200bp TTC - intron_variant PACA-CA 18 55901995 55901998 deletion of <=200bp TTTG - intron_variant PACA-CA 18 55902849 55902849 single base substitution A G intron_variant PACA-CA 18 55904280 55904280 single base substitution T C intron_variant PACA-CA 18 55907162 55907162 single base substitution T C intron_variant PACA-CA 18 55913180 55913180 single base substitution G A downstream_gene_variant PACA-CA 18 55913180 55913180 single base substitution G A intron_variant PACA-CA 18 55913180 55913180 single base substitution G A upstream_gene_variant PACA-CA 18 55917726 55917726 single base substitution G A downstream_gene_variant PACA-CA 18 55917726 55917726 single base substitution G A intron_variant PACA-CA 18 55918743 55918743 single base substitution G C intron_variant PACA-CA 18 55918745 55918745 single base substitution C G intron_variant PACA-CA 18 55920450 55920450 single base substitution G A intron_variant PACA-CA 18 55921274 55921274 single base substitution C T intron_variant PACA-CA 18 55921784 55921784 single base substitution A G intron_variant PACA-CA 18 55925415 55925415 single base substitution T A intron_variant PACA-CA 18 55926207 55926207 single base substitution A C intron_variant PACA-CA 18 55938569 55938569 single base substitution T G intron_variant PACA-CA 18 55939898 55939898 insertion of <=200bp - A intron_variant PACA-CA 18 55941344 55941344 single base substitution C T intron_variant PACA-CA 18 55955208 55955208 single base substitution A G intron_variant PACA-CA 18 55955290 55955290 single base substitution A T intron_variant PACA-CA 18 55955490 55955490 insertion of <=200bp - T intron_variant PACA-CA 18 55956504 55956504 single base substitution C T intron_variant PACA-CA 18 55958083 55958083 single base substitution C T intron_variant PACA-CA 18 55959567 55959567 single base substitution C T intron_variant PACA-CA 18 55959667 55959667 single base substitution G A intron_variant PACA-CA 18 55963875 55963875 single base substitution C T intron_variant PACA-CA 18 55969518 55969518 single base substitution G A intron_variant PACA-CA 18 55975765 55975765 single base substitution C T intron_variant PACA-CA 18 55976438 55976438 single base substitution G A intron_variant PACA-CA 18 55980788 55980788 single base substitution G A intron_variant PACA-CA 18 55980788 55980788 single base substitution G A upstream_gene_variant PACA-CA 18 55983698 55983698 single base substitution C G downstream_gene_variant PACA-CA 18 55983698 55983698 single base substitution C G intron_variant PACA-CA 18 55985221 55985221 single base substitution G A downstream_gene_variant PACA-CA 18 55985221 55985221 single base substitution G A intron_variant PACA-CA 18 55992846 55992846 deletion of <=200bp A - downstream_gene_variant PACA-CA 18 55992846 55992846 deletion of <=200bp A - intron_variant PACA-CA 18 55996821 55996821 single base substitution T G downstream_gene_variant PACA-CA 18 55996821 55996821 single base substitution T G intron_variant PACA-CA 18 55996821 55996821 single base substitution T G upstream_gene_variant PACA-CA 18 55999479 55999479 single base substitution C G downstream_gene_variant PACA-CA 18 55999479 55999479 single base substitution C G intron_variant PACA-CA 18 55999607 55999607 single base substitution C T downstream_gene_variant PACA-CA 18 55999607 55999607 single base substitution C T intron_variant PACA-CA 18 55999802 55999802 single base substitution C T downstream_gene_variant PACA-CA 18 55999802 55999802 single base substitution C T intron_variant PACA-CA 18 56001900 56001900 single base substitution A T downstream_gene_variant PACA-CA 18 56001900 56001900 single base substitution A T intron_variant PACA-CA 18 56012883 56012883 single base substitution A G intron_variant PACA-CA 18 56012900 56012901 deletion of <=200bp AC - intron_variant PACA-CA 18 56014644 56014644 single base substitution C T intron_variant PACA-CA 18 56017223 56017223 single base substitution G T intron_variant PACA-CA 18 56018040 56018040 single base substitution G A intron_variant PACA-CA 18 56018420 56018420 single base substitution T C intron_variant PACA-CA 18 56024019 56024019 insertion of <=200bp - A intron_variant PACA-CA 18 56024019 56024019 insertion of <=200bp - A upstream_gene_variant PACA-CA 18 56024455 56024455 single base substitution A G exon_variant PACA-CA 18 56024455 56024455 single base substitution A G intron_variant PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R244G 730A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R439G 1315A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R459G 1375A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R476G 1426A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R516G 1546A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R552G 1654A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R560G 1678A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R572G 1714A>G PACA-CA 18 56024455 56024455 single base substitution A G missense_variant R580G 1738A>G PACA-CA 18 56024455 56024455 single base substitution A G upstream_gene_variant PACA-CA 18 56033437 56033437 single base substitution C T downstream_gene_variant PACA-CA 18 56033437 56033437 single base substitution C T exon_variant PACA-CA 18 56033437 56033437 single base substitution C T intron_variant PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y344Y 1032C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y539Y 1617C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y540Y 1620C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y559Y 1677C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y576Y 1728C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y616Y 1848C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y652Y 1956C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y660Y 1980C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y672Y 2016C>T PACA-CA 18 56033437 56033437 single base substitution C T synonymous_variant Y680Y 2040C>T PACA-CA 18 56033437 56033437 single base substitution C T upstream_gene_variant PACA-CA 18 56051633 56051633 single base substitution C T intron_variant PACA-CA 18 56051633 56051633 single base substitution C T upstream_gene_variant PACA-CA 18 56056489 56056489 single base substitution G A exon_variant PACA-CA 18 56056489 56056489 single base substitution G A intron_variant PACA-CA 18 56056489 56056489 single base substitution G A upstream_gene_variant PACA-CA 18 56062132 56062132 single base substitution T C downstream_gene_variant PACA-CA 18 56062132 56062132 single base substitution T C intron_variant PACA-CA 18 56062974 56062974 single base substitution T C downstream_gene_variant PACA-CA 18 56062974 56062974 single base substitution T C intron_variant PACA-CA 18 56071147 56071147 single base substitution T A downstream_gene_variant PAEN-AU 18 55737077 55737077 single base substitution A T intron_variant PAEN-AU 18 55766852 55766852 single base substitution A G intron_variant PAEN-AU 18 55792827 55792827 single base substitution A C intron_variant PAEN-AU 18 55803867 55803867 single base substitution C T intron_variant PAEN-AU 18 55864853 55864853 single base substitution A G intron_variant PAEN-AU 18 55864853 55864853 single base substitution A G upstream_gene_variant PAEN-AU 18 55865469 55865469 single base substitution A C intron_variant PAEN-AU 18 55904283 55904283 single base substitution C T intron_variant PAEN-AU 18 55908773 55908773 single base substitution C G intron_variant PAEN-AU 18 55909700 55909700 single base substitution G A intron_variant PAEN-AU 18 55909700 55909700 single base substitution G A upstream_gene_variant PAEN-AU 18 55916452 55916452 single base substitution A G downstream_gene_variant PAEN-AU 18 55916452 55916452 single base substitution A G intron_variant PAEN-AU 18 55919970 55919970 single base substitution T A intron_variant PAEN-AU 18 55938060 55938060 single base substitution A G intron_variant PAEN-AU 18 55956641 55956641 single base substitution T A intron_variant PAEN-AU 18 55964718 55964718 single base substitution C T intron_variant PAEN-AU 18 55986682 55986682 single base substitution C T downstream_gene_variant PAEN-AU 18 55986682 55986682 single base substitution C T intron_variant PAEN-AU 18 55986682 55986682 single base substitution C T upstream_gene_variant PAEN-AU 18 56026667 56026667 single base substitution G A intron_variant PAEN-AU 18 56026667 56026667 single base substitution G A upstream_gene_variant PAEN-AU 18 56073575 56073575 single base substitution A G downstream_gene_variant PAEN-IT 18 55743225 55743225 single base substitution C A intron_variant PAEN-IT 18 55805299 55805299 single base substitution G A intron_variant PAEN-IT 18 55846586 55846586 single base substitution A T intron_variant PAEN-IT 18 55881878 55881878 single base substitution T G intron_variant PAEN-IT 18 55884959 55884959 single base substitution C A intron_variant PAEN-IT 18 55884959 55884959 single base substitution C A upstream_gene_variant PAEN-IT 18 55918690 55918690 single base substitution G A intron_variant PAEN-IT 18 55935340 55935340 single base substitution C G intron_variant PAEN-IT 18 55939552 55939552 single base substitution T C intron_variant PAEN-IT 18 55954066 55954066 single base substitution G A intron_variant PAEN-IT 18 55975521 55975521 single base substitution G C intron_variant PAEN-IT 18 55994479 55994479 single base substitution G A downstream_gene_variant PAEN-IT 18 55994479 55994479 single base substitution G A intron_variant PAEN-IT 18 55994479 55994479 single base substitution G A upstream_gene_variant PAEN-IT 18 55995785 55995785 single base substitution G A downstream_gene_variant PAEN-IT 18 55995785 55995785 single base substitution G A intron_variant PAEN-IT 18 55995785 55995785 single base substitution G A upstream_gene_variant PAEN-IT 18 56047528 56047528 single base substitution T A intron_variant PAEN-IT 18 56071462 56071462 single base substitution C T downstream_gene_variant PBCA-DE 18 55709302 55709302 single base substitution C T upstream_gene_variant PBCA-DE 18 55728849 55728849 single base substitution C T intron_variant PBCA-DE 18 55729857 55729857 insertion of <=200bp - T intron_variant PBCA-DE 18 55757174 55757174 insertion of <=200bp - C intron_variant PBCA-DE 18 55757174 55757174 insertion of <=200bp - C upstream_gene_variant PBCA-DE 18 55759460 55759460 single base substitution C T intron_variant PBCA-DE 18 55761841 55761841 single base substitution C A intron_variant PBCA-DE 18 55779705 55779705 single base substitution G T intron_variant PBCA-DE 18 55799536 55799536 deletion of <=200bp A - intron_variant PBCA-DE 18 55803857 55803857 insertion of <=200bp - TCC intron_variant PBCA-DE 18 55803859 55803864 deletion of <=200bp AAGTAA - intron_variant PBCA-DE 18 55808732 55808732 single base substitution T A intron_variant PBCA-DE 18 55818858 55818859 deletion of <=200bp TG - intron_variant PBCA-DE 18 55820134 55820134 single base substitution C T intron_variant PBCA-DE 18 55824676 55824676 single base substitution A T intron_variant PBCA-DE 18 55824689 55824689 single base substitution A C intron_variant PBCA-DE 18 55829354 55829355 deletion of <=200bp TC - intron_variant PBCA-DE 18 55832197 55832197 single base substitution C T intron_variant PBCA-DE 18 55834948 55834948 insertion of <=200bp - A downstream_gene_variant PBCA-DE 18 55834948 55834948 insertion of <=200bp - A intron_variant PBCA-DE 18 55853839 55853839 deletion of <=200bp A - intron_variant PBCA-DE 18 55876321 55876321 single base substitution A T intron_variant PBCA-DE 18 55880992 55880992 single base substitution T G intron_variant PBCA-DE 18 55904257 55904259 deletion of <=200bp AAT - intron_variant PBCA-DE 18 55905642 55905642 single base substitution T A intron_variant PBCA-DE 18 55907643 55907643 single base substitution G T intron_variant PBCA-DE 18 55922403 55922403 single base substitution G A intron_variant PBCA-DE 18 55923467 55923467 single base substitution G A intron_variant PBCA-DE 18 55945171 55945171 single base substitution A G intron_variant PBCA-DE 18 55948933 55948933 single base substitution T C intron_variant PBCA-DE 18 55949368 55949368 single base substitution G A intron_variant PBCA-DE 18 55958458 55958458 single base substitution A G intron_variant PBCA-DE 18 55973722 55973722 single base substitution G T intron_variant PBCA-DE 18 55996316 55996316 single base substitution A T downstream_gene_variant PBCA-DE 18 55996316 55996316 single base substitution A T exon_variant PBCA-DE 18 55996316 55996316 single base substitution A T intron_variant PBCA-DE 18 55996316 55996316 single base substitution A T missense_variant E136V 407A>T PBCA-DE 18 55996316 55996316 single base substitution A T missense_variant E249V 746A>T PBCA-DE 18 55996316 55996316 single base substitution A T missense_variant E257V 770A>T PBCA-DE 18 55996316 55996316 single base substitution A T missense_variant E91V 272A>T PBCA-DE 18 55996316 55996316 single base substitution A T upstream_gene_variant PBCA-DE 18 55996330 55996330 single base substitution G A downstream_gene_variant PBCA-DE 18 55996330 55996330 single base substitution G A exon_variant PBCA-DE 18 55996330 55996330 single base substitution G A intron_variant PBCA-DE 18 55996330 55996330 single base substitution G A missense_variant E141K 421G>A PBCA-DE 18 55996330 55996330 single base substitution G A missense_variant E254K 760G>A PBCA-DE 18 55996330 55996330 single base substitution G A missense_variant E262K 784G>A PBCA-DE 18 55996330 55996330 single base substitution G A missense_variant E96K 286G>A PBCA-DE 18 55996330 55996330 single base substitution G A upstream_gene_variant PBCA-DE 18 56013935 56013935 insertion of <=200bp - G intron_variant PBCA-DE 18 56014453 56014453 single base substitution C A intron_variant PBCA-DE 18 56019530 56019530 single base substitution T C intron_variant PBCA-DE 18 56029119 56029119 deletion of <=200bp A - intron_variant PBCA-DE 18 56029119 56029119 deletion of <=200bp A - upstream_gene_variant PBCA-DE 18 56029254 56029254 single base substitution G C intron_variant PBCA-DE 18 56029254 56029254 single base substitution G C upstream_gene_variant PBCA-DE 18 56040396 56040396 single base substitution C T exon_variant PBCA-DE 18 56040396 56040396 single base substitution C T intron_variant PBCA-DE 18 56040396 56040396 single base substitution C T upstream_gene_variant PBCA-DE 18 56052330 56052330 single base substitution A G intron_variant PBCA-DE 18 56052330 56052330 single base substitution A G upstream_gene_variant PBCA-DE 18 56058435 56058435 single base substitution G T downstream_gene_variant PBCA-DE 18 56058435 56058435 single base substitution G T intron_variant PBCA-DE 18 56069704 56069704 single base substitution G T downstream_gene_variant PRAD-CA 18 55709676 55709676 single base substitution T A upstream_gene_variant PRAD-CA 18 55709682 55709682 single base substitution T A upstream_gene_variant PRAD-CA 18 55733926 55733926 single base substitution C G intron_variant PRAD-CA 18 55739845 55739845 single base substitution T G intron_variant PRAD-CA 18 55740106 55740106 single base substitution A G intron_variant PRAD-CA 18 55749334 55749334 single base substitution A T intron_variant PRAD-CA 18 55763583 55763583 single base substitution A T intron_variant PRAD-CA 18 55763584 55763584 single base substitution T A intron_variant PRAD-CA 18 55771348 55771348 single base substitution C T intron_variant PRAD-CA 18 55776804 55776804 single base substitution G T intron_variant PRAD-CA 18 55793387 55793387 single base substitution C A intron_variant PRAD-CA 18 55797221 55797221 single base substitution G T intron_variant PRAD-CA 18 55797409 55797409 single base substitution C T intron_variant PRAD-CA 18 55797859 55797859 single base substitution G A intron_variant PRAD-CA 18 55816435 55816435 single base substitution T G intron_variant PRAD-CA 18 55816435 55816435 single base substitution T G upstream_gene_variant PRAD-CA 18 55819210 55819210 single base substitution A G intron_variant PRAD-CA 18 55839377 55839377 single base substitution A T intron_variant PRAD-CA 18 55852423 55852423 single base substitution A T intron_variant PRAD-CA 18 55863109 55863109 single base substitution T G intron_variant PRAD-CA 18 55863109 55863109 single base substitution T G upstream_gene_variant PRAD-CA 18 55864245 55864245 single base substitution C G intron_variant PRAD-CA 18 55864245 55864245 single base substitution C G upstream_gene_variant PRAD-CA 18 55872732 55872732 single base substitution G A intron_variant PRAD-CA 18 55904540 55904540 single base substitution T C intron_variant PRAD-CA 18 55911932 55911932 single base substitution G T intron_variant PRAD-CA 18 55911932 55911932 single base substitution G T upstream_gene_variant PRAD-CA 18 55921039 55921039 single base substitution G C intron_variant PRAD-CA 18 55943938 55943938 single base substitution T A intron_variant PRAD-CA 18 55952982 55952982 single base substitution C T intron_variant PRAD-CA 18 55995742 55995742 single base substitution C T downstream_gene_variant PRAD-CA 18 55995742 55995742 single base substitution C T intron_variant PRAD-CA 18 55995742 55995742 single base substitution C T upstream_gene_variant PRAD-CA 18 56003705 56003705 single base substitution A G downstream_gene_variant PRAD-CA 18 56003705 56003705 single base substitution A G intron_variant PRAD-CA 18 56003705 56003705 single base substitution A G upstream_gene_variant PRAD-CA 18 56036690 56036690 single base substitution T A downstream_gene_variant PRAD-CA 18 56036690 56036690 single base substitution T A intron_variant PRAD-CA 18 56036690 56036690 single base substitution T A upstream_gene_variant PRAD-CA 18 56040078 56040078 single base substitution A G intron_variant PRAD-CA 18 56040078 56040078 single base substitution A G upstream_gene_variant PRAD-CA 18 56044729 56044729 single base substitution T A downstream_gene_variant PRAD-CA 18 56044729 56044729 single base substitution T A intron_variant PRAD-CA 18 56056799 56056799 single base substitution C T downstream_gene_variant PRAD-CA 18 56056799 56056799 single base substitution C T intron_variant PRAD-CA 18 56056799 56056799 single base substitution C T upstream_gene_variant PRAD-CA 18 56062105 56062105 single base substitution T C downstream_gene_variant PRAD-CA 18 56062105 56062105 single base substitution T C intron_variant PRAD-CA 18 56063283 56063283 single base substitution A G downstream_gene_variant PRAD-CA 18 56063283 56063283 single base substitution A G intron_variant PRAD-CA 18 56070789 56070789 single base substitution T A downstream_gene_variant PRAD-UK 18 55722097 55722097 single base substitution C G exon_variant PRAD-UK 18 55722097 55722097 single base substitution C G intron_variant PRAD-UK 18 55723045 55723045 single base substitution A C intron_variant PRAD-UK 18 55734288 55734288 single base substitution A G intron_variant PRAD-UK 18 55740064 55740064 single base substitution T G intron_variant PRAD-UK 18 55752269 55752269 single base substitution C G intron_variant PRAD-UK 18 55768039 55768039 deletion of <=200bp A - intron_variant PRAD-UK 18 55785974 55785974 single base substitution T C intron_variant PRAD-UK 18 55786424 55786424 single base substitution T C intron_variant PRAD-UK 18 55788188 55788188 single base substitution G A intron_variant PRAD-UK 18 55795191 55795191 single base substitution C T intron_variant PRAD-UK 18 55800608 55800608 single base substitution A G intron_variant PRAD-UK 18 55805726 55805726 single base substitution C G intron_variant PRAD-UK 18 55820902 55820902 insertion of <=200bp - G intron_variant PRAD-UK 18 55826186 55826186 single base substitution C T intron_variant PRAD-UK 18 55831397 55831397 single base substitution C T intron_variant PRAD-UK 18 55838631 55838670 deletion of <=200bp CCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTG - intron_variant PRAD-UK 18 55849266 55849266 single base substitution T C intron_variant PRAD-UK 18 55850351 55850351 single base substitution A T intron_variant PRAD-UK 18 55862509 55862509 single base substitution T G intron_variant PRAD-UK 18 55862509 55862509 single base substitution T G upstream_gene_variant PRAD-UK 18 55873386 55873386 single base substitution C A intron_variant PRAD-UK 18 55892128 55892128 single base substitution A C intron_variant PRAD-UK 18 55900804 55900804 single base substitution T C intron_variant PRAD-UK 18 55900890 55900890 single base substitution T C intron_variant PRAD-UK 18 55902468 55902468 single base substitution A G intron_variant PRAD-UK 18 55904674 55904674 single base substitution G A intron_variant PRAD-UK 18 55911973 55911973 single base substitution G C intron_variant PRAD-UK 18 55911973 55911973 single base substitution G C upstream_gene_variant PRAD-UK 18 55919258 55919258 single base substitution T A 5_prime_UTR_variant PRAD-UK 18 55919258 55919258 single base substitution T A exon_variant PRAD-UK 18 55919258 55919258 single base substitution T A intron_variant PRAD-UK 18 55919258 55919258 single base substitution T A missense_variant L82Q 245T>A PRAD-UK 18 55919258 55919258 single base substitution T A missense_variant L90Q 269T>A PRAD-UK 18 55920826 55920826 single base substitution C T intron_variant PRAD-UK 18 55920827 55920827 single base substitution G C intron_variant PRAD-UK 18 55922131 55922131 single base substitution A G intron_variant PRAD-UK 18 55924628 55924628 single base substitution G A intron_variant PRAD-UK 18 55926767 55926767 insertion of <=200bp - T intron_variant PRAD-UK 18 55946487 55946487 single base substitution C T intron_variant PRAD-UK 18 55953219 55953219 single base substitution T A intron_variant PRAD-UK 18 55981276 55981276 deletion of <=200bp A - intron_variant PRAD-UK 18 55981276 55981276 deletion of <=200bp A - upstream_gene_variant PRAD-UK 18 55988082 55988085 deletion of <=200bp AAGG - downstream_gene_variant PRAD-UK 18 55988082 55988085 deletion of <=200bp AAGG - intron_variant PRAD-UK 18 55988082 55988085 deletion of <=200bp AAGG - upstream_gene_variant PRAD-UK 18 55992799 55992799 single base substitution A G downstream_gene_variant PRAD-UK 18 55992799 55992799 single base substitution A G intron_variant PRAD-UK 18 56012731 56012731 single base substitution A T intron_variant PRAD-UK 18 56016744 56016744 single base substitution A G intron_variant PRAD-UK 18 56019408 56019408 single base substitution C G intron_variant PRAD-UK 18 56021614 56021614 single base substitution T C intron_variant PRAD-UK 18 56028788 56028788 single base substitution T C intron_variant PRAD-UK 18 56049498 56049498 single base substitution G T intron_variant PRAD-UK 18 56049736 56049736 single base substitution C T intron_variant PRAD-UK 18 56054535 56054548 deletion of <=200bp GATACTGTCACTGA - intron_variant PRAD-UK 18 56054535 56054548 deletion of <=200bp GATACTGTCACTGA - upstream_gene_variant PRAD-UK 18 56057135 56057135 single base substitution A G downstream_gene_variant PRAD-UK 18 56057135 56057135 single base substitution A G intron_variant PRAD-UK 18 56057135 56057135 single base substitution A G upstream_gene_variant PRAD-UK 18 56067855 56067855 single base substitution A C 3_prime_UTR_variant PRAD-UK 18 56067855 56067855 single base substitution A C downstream_gene_variant PRAD-UK 18 56067957 56067957 single base substitution C A 3_prime_UTR_variant PRAD-UK 18 56067957 56067957 single base substitution C A downstream_gene_variant PRAD-US 18 55992284 55992286 deletion of <=200bp TCC - downstream_gene_variant PRAD-US 18 55992284 55992286 deletion of <=200bp TCC - exon_variant PRAD-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP182L PRAD-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP190L PRAD-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP24L PRAD-US 18 55992284 55992286 deletion of <=200bp TCC - inframe_deletion LP69L PRAD-US 18 55992284 55992286 deletion of <=200bp TCC - intron_variant READ-US 18 56050549 56050549 single base substitution C T intron_variant READ-US 18 56050549 56050549 single base substitution C T splice_region_variant READ-US 18 56050549 56050549 single base substitution C T upstream_gene_variant RECA-EU 18 55706679 55706679 single base substitution C T upstream_gene_variant RECA-EU 18 55718280 55718280 single base substitution G A intron_variant RECA-EU 18 55718280 55718280 single base substitution G A upstream_gene_variant RECA-EU 18 55720340 55720340 single base substitution T C intron_variant RECA-EU 18 55720340 55720340 single base substitution T C upstream_gene_variant RECA-EU 18 55721170 55721170 single base substitution C A intron_variant RECA-EU 18 55721170 55721170 single base substitution C A upstream_gene_variant RECA-EU 18 55725153 55725153 single base substitution A T intron_variant RECA-EU 18 55731056 55731056 single base substitution G A intron_variant RECA-EU 18 55737172 55737172 single base substitution G T intron_variant RECA-EU 18 55737310 55737310 single base substitution G T intron_variant RECA-EU 18 55743314 55743314 single base substitution T C intron_variant RECA-EU 18 55744541 55744541 single base substitution G T intron_variant RECA-EU 18 55744798 55744798 single base substitution T A intron_variant RECA-EU 18 55746514 55746514 single base substitution T G intron_variant RECA-EU 18 55751914 55751914 single base substitution T G intron_variant RECA-EU 18 55752829 55752829 single base substitution G T intron_variant RECA-EU 18 55772414 55772414 single base substitution A C intron_variant RECA-EU 18 55776803 55776803 single base substitution T G intron_variant RECA-EU 18 55779345 55779345 single base substitution T C intron_variant RECA-EU 18 55783751 55783751 single base substitution A T intron_variant RECA-EU 18 55787365 55787365 single base substitution T G intron_variant RECA-EU 18 55800576 55800576 single base substitution T C intron_variant RECA-EU 18 55807510 55807510 single base substitution A T intron_variant RECA-EU 18 55807689 55807689 single base substitution C G intron_variant RECA-EU 18 55827970 55827970 single base substitution G A intron_variant RECA-EU 18 55830424 55830424 single base substitution T C intron_variant RECA-EU 18 55835578 55835578 single base substitution G C downstream_gene_variant RECA-EU 18 55835578 55835578 single base substitution G C intron_variant RECA-EU 18 55837318 55837318 single base substitution C A downstream_gene_variant RECA-EU 18 55837318 55837318 single base substitution C A intron_variant RECA-EU 18 55849839 55849839 single base substitution A G intron_variant RECA-EU 18 55851756 55851756 single base substitution C T intron_variant RECA-EU 18 55858785 55858785 single base substitution A G intron_variant RECA-EU 18 55858785 55858785 single base substitution A G upstream_gene_variant RECA-EU 18 55867027 55867027 single base substitution G A intron_variant RECA-EU 18 55875264 55875264 single base substitution G C intron_variant RECA-EU 18 55878868 55878868 single base substitution C G intron_variant RECA-EU 18 55882013 55882013 single base substitution C T intron_variant RECA-EU 18 55882035 55882035 single base substitution T C intron_variant RECA-EU 18 55882039 55882039 single base substitution T C intron_variant RECA-EU 18 55882047 55882047 single base substitution T G intron_variant RECA-EU 18 55883317 55883317 single base substitution C A intron_variant RECA-EU 18 55891387 55891387 single base substitution T C intron_variant RECA-EU 18 55895960 55895960 single base substitution G A intron_variant RECA-EU 18 55907317 55907317 single base substitution C T intron_variant RECA-EU 18 55914541 55914541 single base substitution C G downstream_gene_variant RECA-EU 18 55914541 55914541 single base substitution C G exon_variant RECA-EU 18 55914541 55914541 single base substitution C G intron_variant RECA-EU 18 55918791 55918791 single base substitution C G intron_variant RECA-EU 18 55939990 55939990 single base substitution T G intron_variant RECA-EU 18 55941332 55941332 single base substitution T C intron_variant RECA-EU 18 55965717 55965717 single base substitution C T intron_variant RECA-EU 18 55967066 55967066 single base substitution C T intron_variant RECA-EU 18 55967548 55967548 single base substitution A G intron_variant RECA-EU 18 55971976 55971976 single base substitution C G intron_variant RECA-EU 18 55980704 55980704 single base substitution C A intron_variant RECA-EU 18 55980704 55980704 single base substitution C A upstream_gene_variant RECA-EU 18 55982334 55982334 single base substitution C T intron_variant RECA-EU 18 55983587 55983587 single base substitution T G downstream_gene_variant RECA-EU 18 55983587 55983587 single base substitution T G intron_variant RECA-EU 18 55988279 55988279 single base substitution G A intron_variant RECA-EU 18 55988279 55988279 single base substitution G A upstream_gene_variant RECA-EU 18 56001311 56001311 single base substitution A G downstream_gene_variant RECA-EU 18 56001311 56001311 single base substitution A G intron_variant RECA-EU 18 56001459 56001459 single base substitution T C downstream_gene_variant RECA-EU 18 56001459 56001459 single base substitution T C intron_variant RECA-EU 18 56007085 56007085 single base substitution C A downstream_gene_variant RECA-EU 18 56007085 56007085 single base substitution C A intron_variant RECA-EU 18 56007085 56007085 single base substitution C A upstream_gene_variant RECA-EU 18 56007086 56007086 single base substitution T A downstream_gene_variant RECA-EU 18 56007086 56007086 single base substitution T A intron_variant RECA-EU 18 56007086 56007086 single base substitution T A upstream_gene_variant RECA-EU 18 56009273 56009273 single base substitution A T intron_variant RECA-EU 18 56011077 56011077 single base substitution T C intron_variant RECA-EU 18 56016296 56016296 single base substitution G A intron_variant RECA-EU 18 56017992 56017992 single base substitution G A intron_variant RECA-EU 18 56018445 56018445 single base substitution A T intron_variant RECA-EU 18 56019727 56019727 single base substitution A T intron_variant RECA-EU 18 56024639 56024639 single base substitution T A intron_variant RECA-EU 18 56024639 56024639 single base substitution T A upstream_gene_variant RECA-EU 18 56024640 56024640 single base substitution T G intron_variant RECA-EU 18 56024640 56024640 single base substitution T G upstream_gene_variant RECA-EU 18 56035112 56035112 single base substitution G A downstream_gene_variant RECA-EU 18 56035112 56035112 single base substitution G A intron_variant RECA-EU 18 56042860 56042860 single base substitution C G downstream_gene_variant RECA-EU 18 56042860 56042860 single base substitution C G intron_variant RECA-EU 18 56052084 56052084 single base substitution C T intron_variant RECA-EU 18 56052084 56052084 single base substitution C T upstream_gene_variant RECA-EU 18 56055332 56055332 single base substitution G C exon_variant RECA-EU 18 56055332 56055332 single base substitution G C intron_variant RECA-EU 18 56055332 56055332 single base substitution G C upstream_gene_variant RECA-EU 18 56059609 56059609 single base substitution G T downstream_gene_variant RECA-EU 18 56059609 56059609 single base substitution G T intron_variant RECA-EU 18 56059787 56059787 single base substitution A T downstream_gene_variant RECA-EU 18 56059787 56059787 single base substitution A T intron_variant RECA-EU 18 56063819 56063819 single base substitution A T 3_prime_UTR_variant RECA-EU 18 56063819 56063819 single base substitution A T downstream_gene_variant RECA-EU 18 56063819 56063819 single base substitution A T exon_variant SKCA-BR 18 55708277 55708277 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 18 55709749 55709749 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 18 55709786 55709786 single base substitution C T upstream_gene_variant SKCA-BR 18 55712326 55712326 single base substitution C T intron_variant SKCA-BR 18 55712326 55712326 single base substitution C T upstream_gene_variant SKCA-BR 18 55712327 55712328 deletion of <=200bp AC - intron_variant SKCA-BR 18 55712327 55712328 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 18 55712464 55712464 single base substitution A G intron_variant SKCA-BR 18 55712464 55712464 single base substitution A G upstream_gene_variant SKCA-BR 18 55720541 55720542 deletion of <=200bp AT - intron_variant SKCA-BR 18 55720541 55720542 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 18 55722360 55722360 single base substitution G A intron_variant SKCA-BR 18 55727102 55727102 single base substitution A G intron_variant SKCA-BR 18 55727903 55727903 single base substitution C T intron_variant SKCA-BR 18 55730219 55730220 deletion of <=200bp CA - intron_variant SKCA-BR 18 55730294 55730296 deletion of <=200bp TTG - intron_variant SKCA-BR 18 55730427 55730427 single base substitution G A intron_variant SKCA-BR 18 55730801 55730801 insertion of <=200bp - CT intron_variant SKCA-BR 18 55731712 55731712 single base substitution G A intron_variant SKCA-BR 18 55733581 55733581 single base substitution A T intron_variant SKCA-BR 18 55735437 55735440 deletion of <=200bp TTTG - intron_variant SKCA-BR 18 55737521 55737521 single base substitution G A intron_variant SKCA-BR 18 55741806 55741806 single base substitution C T intron_variant SKCA-BR 18 55743011 55743011 single base substitution A T intron_variant SKCA-BR 18 55748191 55748191 single base substitution G A intron_variant SKCA-BR 18 55749335 55749335 insertion of <=200bp - TA intron_variant SKCA-BR 18 55750020 55750020 insertion of <=200bp - CA intron_variant SKCA-BR 18 55750922 55750922 insertion of <=200bp - AAAAC intron_variant SKCA-BR 18 55751442 55751442 single base substitution C T intron_variant SKCA-BR 18 55751490 55751490 single base substitution G A intron_variant SKCA-BR 18 55753665 55753665 single base substitution T G intron_variant SKCA-BR 18 55753665 55753665 single base substitution T G upstream_gene_variant SKCA-BR 18 55753802 55753802 single base substitution T G intron_variant SKCA-BR 18 55753802 55753802 single base substitution T G upstream_gene_variant SKCA-BR 18 55757241 55757241 single base substitution T A intron_variant SKCA-BR 18 55757241 55757241 single base substitution T A upstream_gene_variant SKCA-BR 18 55757953 55757953 single base substitution A C intron_variant SKCA-BR 18 55757953 55757953 single base substitution A C upstream_gene_variant SKCA-BR 18 55761711 55761711 single base substitution A C intron_variant SKCA-BR 18 55762928 55762928 single base substitution C T intron_variant SKCA-BR 18 55763588 55763589 deletion of <=200bp AT - intron_variant SKCA-BR 18 55763613 55763614 deletion of <=200bp AT - intron_variant SKCA-BR 18 55763839 55763839 single base substitution T A intron_variant SKCA-BR 18 55764690 55764690 single base substitution G A intron_variant SKCA-BR 18 55766265 55766265 single base substitution A C intron_variant SKCA-BR 18 55766323 55766323 single base substitution T C intron_variant SKCA-BR 18 55767037 55767037 single base substitution C G intron_variant SKCA-BR 18 55774465 55774465 single base substitution C T intron_variant SKCA-BR 18 55776803 55776803 single base substitution T G intron_variant SKCA-BR 18 55778920 55778920 single base substitution G A intron_variant SKCA-BR 18 55781581 55781581 single base substitution T A intron_variant SKCA-BR 18 55784340 55784340 single base substitution A T intron_variant SKCA-BR 18 55788030 55788030 single base substitution C T intron_variant SKCA-BR 18 55788762 55788762 single base substitution A T intron_variant SKCA-BR 18 55790130 55790130 single base substitution C T intron_variant SKCA-BR 18 55791647 55791647 single base substitution C T intron_variant SKCA-BR 18 55792749 55792749 single base substitution C T intron_variant SKCA-BR 18 55795416 55795416 single base substitution C A intron_variant SKCA-BR 18 55797189 55797189 single base substitution T G intron_variant SKCA-BR 18 55797750 55797750 single base substitution A G intron_variant SKCA-BR 18 55800277 55800277 single base substitution G A intron_variant SKCA-BR 18 55801950 55801950 single base substitution C T intron_variant SKCA-BR 18 55802248 55802248 single base substitution A G intron_variant SKCA-BR 18 55802432 55802432 single base substitution G A intron_variant SKCA-BR 18 55806524 55806524 single base substitution T C intron_variant SKCA-BR 18 55806537 55806537 single base substitution G C intron_variant SKCA-BR 18 55806594 55806594 single base substitution G T intron_variant SKCA-BR 18 55807849 55807849 single base substitution T C intron_variant SKCA-BR 18 55808339 55808339 single base substitution C T intron_variant SKCA-BR 18 55808910 55808910 single base substitution T C intron_variant SKCA-BR 18 55812863 55812863 single base substitution T G intron_variant SKCA-BR 18 55812863 55812863 single base substitution T G upstream_gene_variant SKCA-BR 18 55816513 55816513 single base substitution G A intron_variant SKCA-BR 18 55816513 55816513 single base substitution G A upstream_gene_variant SKCA-BR 18 55817629 55817629 single base substitution A G intron_variant SKCA-BR 18 55818037 55818037 single base substitution G A intron_variant SKCA-BR 18 55818588 55818588 single base substitution C T intron_variant SKCA-BR 18 55819668 55819668 single base substitution G A intron_variant SKCA-BR 18 55821783 55821783 single base substitution C T intron_variant SKCA-BR 18 55823093 55823093 single base substitution G T intron_variant SKCA-BR 18 55824258 55824259 deletion of <=200bp GA - intron_variant SKCA-BR 18 55824962 55824962 single base substitution G A intron_variant SKCA-BR 18 55826683 55826683 single base substitution T C intron_variant SKCA-BR 18 55827580 55827580 single base substitution A T intron_variant SKCA-BR 18 55827596 55827596 single base substitution G T intron_variant SKCA-BR 18 55830789 55830789 single base substitution A G intron_variant SKCA-BR 18 55831085 55831085 single base substitution C T intron_variant SKCA-BR 18 55831479 55831479 single base substitution C T intron_variant SKCA-BR 18 55832343 55832343 single base substitution C T intron_variant SKCA-BR 18 55832750 55832750 single base substitution A G intron_variant SKCA-BR 18 55835153 55835154 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 18 55835153 55835154 deletion of <=200bp TA - intron_variant SKCA-BR 18 55838613 55838613 single base substitution G A intron_variant SKCA-BR 18 55838685 55838685 single base substitution C T intron_variant SKCA-BR 18 55838743 55838743 single base substitution C T intron_variant SKCA-BR 18 55839043 55839043 single base substitution G A intron_variant SKCA-BR 18 55839044 55839044 single base substitution G A intron_variant SKCA-BR 18 55846173 55846173 single base substitution T G intron_variant SKCA-BR 18 55846227 55846227 single base substitution C T intron_variant SKCA-BR 18 55849488 55849488 single base substitution T G intron_variant SKCA-BR 18 55851140 55851140 single base substitution G A intron_variant SKCA-BR 18 55851978 55851978 single base substitution G A intron_variant SKCA-BR 18 55854631 55854631 single base substitution C T intron_variant SKCA-BR 18 55855549 55855549 single base substitution C T intron_variant SKCA-BR 18 55856329 55856329 single base substitution C T intron_variant SKCA-BR 18 55858321 55858321 single base substitution T G intron_variant SKCA-BR 18 55858321 55858321 single base substitution T G upstream_gene_variant SKCA-BR 18 55859625 55859625 single base substitution A G intron_variant SKCA-BR 18 55859625 55859625 single base substitution A G upstream_gene_variant SKCA-BR 18 55859933 55859933 insertion of <=200bp - CTCTT intron_variant SKCA-BR 18 55859933 55859933 insertion of <=200bp - CTCTT upstream_gene_variant SKCA-BR 18 55862911 55862911 single base substitution A C 5_prime_UTR_variant SKCA-BR 18 55862911 55862911 single base substitution A C intron_variant SKCA-BR 18 55862911 55862911 single base substitution A C upstream_gene_variant SKCA-BR 18 55863943 55863943 insertion of <=200bp - TC intron_variant SKCA-BR 18 55863943 55863943 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 18 55873768 55873768 single base substitution G T intron_variant SKCA-BR 18 55882031 55882031 insertion of <=200bp - CTTTCTTTCTT intron_variant SKCA-BR 18 55882035 55882035 single base substitution T C intron_variant SKCA-BR 18 55882039 55882039 single base substitution T C intron_variant SKCA-BR 18 55885914 55885914 single base substitution T C intron_variant SKCA-BR 18 55885914 55885914 single base substitution T C upstream_gene_variant SKCA-BR 18 55885933 55885933 single base substitution A C intron_variant SKCA-BR 18 55885933 55885933 single base substitution A C upstream_gene_variant SKCA-BR 18 55886913 55886913 single base substitution T C intron_variant SKCA-BR 18 55886913 55886913 single base substitution T C upstream_gene_variant SKCA-BR 18 55888731 55888731 single base substitution A G intron_variant SKCA-BR 18 55888731 55888731 single base substitution A G upstream_gene_variant SKCA-BR 18 55892460 55892460 single base substitution C T intron_variant SKCA-BR 18 55892626 55892626 single base substitution T C intron_variant SKCA-BR 18 55893978 55893978 single base substitution C T intron_variant SKCA-BR 18 55897646 55897646 insertion of <=200bp - CTT intron_variant SKCA-BR 18 55899765 55899765 single base substitution A G intron_variant SKCA-BR 18 55899784 55899784 single base substitution A C intron_variant SKCA-BR 18 55901349 55901349 single base substitution T C intron_variant SKCA-BR 18 55901998 55901998 single base substitution G C intron_variant SKCA-BR 18 55905910 55905910 single base substitution A C intron_variant SKCA-BR 18 55907783 55907783 single base substitution T C intron_variant SKCA-BR 18 55917971 55917971 single base substitution C T intron_variant SKCA-BR 18 55919463 55919463 single base substitution G C intron_variant SKCA-BR 18 55919705 55919705 single base substitution G A intron_variant SKCA-BR 18 55919914 55919914 single base substitution C T intron_variant SKCA-BR 18 55922156 55922156 single base substitution C T intron_variant SKCA-BR 18 55930911 55930911 single base substitution C T intron_variant SKCA-BR 18 55932200 55932200 single base substitution G A intron_variant SKCA-BR 18 55938770 55938770 single base substitution A T intron_variant SKCA-BR 18 55939887 55939887 single base substitution C T intron_variant SKCA-BR 18 55940196 55940196 single base substitution G A intron_variant SKCA-BR 18 55945762 55945762 single base substitution C T intron_variant SKCA-BR 18 55946504 55946504 single base substitution T G intron_variant SKCA-BR 18 55948893 55948893 single base substitution G A intron_variant SKCA-BR 18 55949568 55949568 single base substitution C T intron_variant SKCA-BR 18 55950921 55950921 single base substitution C T intron_variant SKCA-BR 18 55954004 55954004 single base substitution C T intron_variant SKCA-BR 18 55957957 55957957 insertion of <=200bp - GT intron_variant SKCA-BR 18 55963555 55963555 single base substitution G A intron_variant SKCA-BR 18 55968085 55968085 single base substitution A C intron_variant SKCA-BR 18 55968755 55968755 single base substitution C T intron_variant SKCA-BR 18 55969979 55969979 single base substitution C T intron_variant SKCA-BR 18 55975009 55975009 single base substitution T G intron_variant SKCA-BR 18 55975168 55975168 single base substitution C T intron_variant SKCA-BR 18 55975843 55975843 single base substitution A G intron_variant SKCA-BR 18 55976678 55976678 single base substitution C T intron_variant SKCA-BR 18 55978812 55978812 single base substitution A C intron_variant SKCA-BR 18 55978812 55978812 single base substitution A C upstream_gene_variant SKCA-BR 18 55983071 55983071 single base substitution C T intron_variant SKCA-BR 18 55983601 55983603 deletion of <=200bp GTC - downstream_gene_variant SKCA-BR 18 55983601 55983603 deletion of <=200bp GTC - intron_variant SKCA-BR 18 55983981 55983981 single base substitution C T downstream_gene_variant SKCA-BR 18 55983981 55983981 single base substitution C T intron_variant SKCA-BR 18 55985838 55985838 single base substitution A G downstream_gene_variant SKCA-BR 18 55985838 55985838 single base substitution A G intron_variant SKCA-BR 18 55985838 55985838 single base substitution A G upstream_gene_variant SKCA-BR 18 55989768 55989768 single base substitution A G downstream_gene_variant SKCA-BR 18 55989768 55989768 single base substitution A G intron_variant SKCA-BR 18 55989768 55989768 single base substitution A G upstream_gene_variant SKCA-BR 18 55990371 55990371 single base substitution C T downstream_gene_variant SKCA-BR 18 55990371 55990371 single base substitution C T intron_variant SKCA-BR 18 55990371 55990371 single base substitution C T upstream_gene_variant SKCA-BR 18 55991003 55991003 single base substitution A C downstream_gene_variant SKCA-BR 18 55991003 55991003 single base substitution A C intron_variant SKCA-BR 18 55993836 55993836 single base substitution G A downstream_gene_variant SKCA-BR 18 55993836 55993836 single base substitution G A intron_variant SKCA-BR 18 55993836 55993836 single base substitution G A upstream_gene_variant SKCA-BR 18 55995385 55995385 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 18 55995385 55995385 insertion of <=200bp - CG intron_variant SKCA-BR 18 55995385 55995385 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 18 56000022 56000022 single base substitution C T downstream_gene_variant SKCA-BR 18 56000022 56000022 single base substitution C T intron_variant SKCA-BR 18 56000493 56000493 single base substitution G A downstream_gene_variant SKCA-BR 18 56000493 56000493 single base substitution G A intron_variant SKCA-BR 18 56003828 56003828 single base substitution C T downstream_gene_variant SKCA-BR 18 56003828 56003828 single base substitution C T intron_variant SKCA-BR 18 56003828 56003828 single base substitution C T upstream_gene_variant SKCA-BR 18 56005945 56005945 single base substitution C T downstream_gene_variant SKCA-BR 18 56005945 56005945 single base substitution C T intron_variant SKCA-BR 18 56005945 56005945 single base substitution C T upstream_gene_variant SKCA-BR 18 56007447 56007447 single base substitution C T downstream_gene_variant SKCA-BR 18 56007447 56007447 single base substitution C T intron_variant SKCA-BR 18 56007447 56007447 single base substitution C T upstream_gene_variant SKCA-BR 18 56007474 56007474 single base substitution A G downstream_gene_variant SKCA-BR 18 56007474 56007474 single base substitution A G intron_variant SKCA-BR 18 56007474 56007474 single base substitution A G upstream_gene_variant SKCA-BR 18 56010392 56010392 single base substitution C T intron_variant SKCA-BR 18 56017958 56017958 single base substitution C A intron_variant SKCA-BR 18 56020706 56020706 single base substitution G A intron_variant SKCA-BR 18 56025652 56025652 single base substitution C T intron_variant SKCA-BR 18 56025652 56025652 single base substitution C T upstream_gene_variant SKCA-BR 18 56027325 56027325 single base substitution G A intron_variant SKCA-BR 18 56027974 56027974 insertion of <=200bp - TTG intron_variant SKCA-BR 18 56031341 56031341 single base substitution C T intron_variant SKCA-BR 18 56031341 56031341 single base substitution C T upstream_gene_variant SKCA-BR 18 56033019 56033019 single base substitution C T intron_variant SKCA-BR 18 56033019 56033019 single base substitution C T upstream_gene_variant SKCA-BR 18 56036391 56036391 single base substitution A G downstream_gene_variant SKCA-BR 18 56036391 56036391 single base substitution A G intron_variant SKCA-BR 18 56036391 56036391 single base substitution A G upstream_gene_variant SKCA-BR 18 56036720 56036720 single base substitution G A downstream_gene_variant SKCA-BR 18 56036720 56036720 single base substitution G A intron_variant SKCA-BR 18 56036720 56036720 single base substitution G A upstream_gene_variant SKCA-BR 18 56038435 56038435 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 18 56038435 56038435 insertion of <=200bp - AT intron_variant SKCA-BR 18 56038435 56038435 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 18 56038555 56038555 single base substitution G A intron_variant SKCA-BR 18 56038555 56038555 single base substitution G A upstream_gene_variant SKCA-BR 18 56039063 56039063 single base substitution A G intron_variant SKCA-BR 18 56039063 56039063 single base substitution A G upstream_gene_variant SKCA-BR 18 56039539 56039539 single base substitution C T intron_variant SKCA-BR 18 56039539 56039539 single base substitution C T upstream_gene_variant SKCA-BR 18 56040062 56040063 deletion of <=200bp CA - intron_variant SKCA-BR 18 56040062 56040063 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 18 56040970 56040970 single base substitution C T downstream_gene_variant SKCA-BR 18 56040970 56040970 single base substitution C T intron_variant SKCA-BR 18 56041488 56041488 single base substitution C T downstream_gene_variant SKCA-BR 18 56041488 56041488 single base substitution C T intron_variant SKCA-BR 18 56041583 56041583 single base substitution G A downstream_gene_variant SKCA-BR 18 56041583 56041583 single base substitution G A intron_variant SKCA-BR 18 56044880 56044880 single base substitution C T downstream_gene_variant SKCA-BR 18 56044880 56044880 single base substitution C T intron_variant SKCA-BR 18 56047277 56047277 single base substitution G A intron_variant SKCA-BR 18 56047548 56047548 single base substitution A G intron_variant SKCA-BR 18 56047581 56047581 single base substitution C T intron_variant SKCA-BR 18 56051511 56051511 single base substitution C T intron_variant SKCA-BR 18 56051511 56051511 single base substitution C T upstream_gene_variant SKCA-BR 18 56051607 56051607 single base substitution G A intron_variant SKCA-BR 18 56051607 56051607 single base substitution G A upstream_gene_variant SKCA-BR 18 56052556 56052556 single base substitution C T intron_variant SKCA-BR 18 56052556 56052556 single base substitution C T upstream_gene_variant SKCA-BR 18 56052958 56052958 single base substitution C T intron_variant SKCA-BR 18 56052958 56052958 single base substitution C T upstream_gene_variant SKCA-BR 18 56055172 56055172 single base substitution C T exon_variant SKCA-BR 18 56055172 56055172 single base substitution C T intron_variant SKCA-BR 18 56055172 56055172 single base substitution C T upstream_gene_variant SKCA-BR 18 56056801 56056801 single base substitution T C downstream_gene_variant SKCA-BR 18 56056801 56056801 single base substitution T C intron_variant SKCA-BR 18 56056801 56056801 single base substitution T C upstream_gene_variant SKCA-BR 18 56057043 56057043 single base substitution A C downstream_gene_variant SKCA-BR 18 56057043 56057043 single base substitution A C intron_variant SKCA-BR 18 56057043 56057043 single base substitution A C upstream_gene_variant SKCA-BR 18 56059261 56059261 single base substitution A G downstream_gene_variant SKCA-BR 18 56059261 56059261 single base substitution A G intron_variant SKCA-BR 18 56061924 56061924 single base substitution T G downstream_gene_variant SKCA-BR 18 56061924 56061924 single base substitution T G intron_variant SKCA-BR 18 56061952 56061952 single base substitution A G downstream_gene_variant SKCA-BR 18 56061952 56061952 single base substitution A G intron_variant SKCA-BR 18 56064287 56064287 single base substitution T C 3_prime_UTR_variant SKCA-BR 18 56064287 56064287 single base substitution T C downstream_gene_variant SKCA-BR 18 56064287 56064287 single base substitution T C exon_variant SKCA-BR 18 56064288 56064288 single base substitution T C 3_prime_UTR_variant SKCA-BR 18 56064288 56064288 single base substitution T C downstream_gene_variant SKCA-BR 18 56064288 56064288 single base substitution T C exon_variant SKCA-BR 18 56065953 56065953 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 56065953 56065953 single base substitution C T downstream_gene_variant SKCA-BR 18 56067185 56067185 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 56067185 56067185 single base substitution C T downstream_gene_variant SKCA-BR 18 56067748 56067748 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 56067748 56067748 single base substitution G A downstream_gene_variant SKCA-BR 18 56072288 56072288 single base substitution C T downstream_gene_variant SKCA-BR 18 56073079 56073079 single base substitution G A downstream_gene_variant SKCA-BR 18 56073710 56073710 single base substitution C T downstream_gene_variant SKCM-US 18 55983259 55983259 single base substitution C T 5_prime_UTR_variant SKCM-US 18 55983259 55983259 single base substitution C T downstream_gene_variant SKCM-US 18 55983259 55983259 single base substitution C T exon_variant SKCM-US 18 55983259 55983259 single base substitution C T intron_variant SKCM-US 18 55983259 55983259 single base substitution C T missense_variant L107F 319C>T SKCM-US 18 55983259 55983259 single base substitution C T missense_variant L115F 343C>T SKCM-US 18 55992244 55992244 single base substitution T A downstream_gene_variant SKCM-US 18 55992244 55992244 single base substitution T A exon_variant SKCM-US 18 55992244 55992244 single base substitution T A intron_variant SKCM-US 18 55992244 55992244 single base substitution T A missense_variant V11D 32T>A SKCM-US 18 55992244 55992244 single base substitution T A missense_variant V169D 506T>A SKCM-US 18 55992244 55992244 single base substitution T A missense_variant V177D 530T>A SKCM-US 18 55992244 55992244 single base substitution T A missense_variant V56D 167T>A SKCM-US 18 55992285 55992285 single base substitution C T downstream_gene_variant SKCM-US 18 55992285 55992285 single base substitution C T exon_variant SKCM-US 18 55992285 55992285 single base substitution C T intron_variant SKCM-US 18 55992285 55992285 single base substitution C T missense_variant P183S 547C>T SKCM-US 18 55992285 55992285 single base substitution C T missense_variant P191S 571C>T SKCM-US 18 55992285 55992285 single base substitution C T missense_variant P25S 73C>T SKCM-US 18 55992285 55992285 single base substitution C T missense_variant P70S 208C>T SKCM-US 18 55996240 55996240 single base substitution G A downstream_gene_variant SKCM-US 18 55996240 55996240 single base substitution G A exon_variant SKCM-US 18 55996240 55996240 single base substitution G A intron_variant SKCM-US 18 55996240 55996240 single base substitution G A missense_variant E111K 331G>A SKCM-US 18 55996240 55996240 single base substitution G A missense_variant E224K 670G>A SKCM-US 18 55996240 55996240 single base substitution G A missense_variant E232K 694G>A SKCM-US 18 55996240 55996240 single base substitution G A missense_variant E66K 196G>A SKCM-US 18 55996240 55996240 single base substitution G A upstream_gene_variant SKCM-US 18 56008369 56008369 single base substitution C T exon_variant SKCM-US 18 56008369 56008369 single base substitution C T intron_variant SKCM-US 18 56008369 56008369 single base substitution C T stop_gained R268* 802C>T SKCM-US 18 56008369 56008369 single base substitution C T stop_gained R288* 862C>T SKCM-US 18 56008369 56008369 single base substitution C T stop_gained R381* 1141C>T SKCM-US 18 56008369 56008369 single base substitution C T stop_gained R389* 1165C>T SKCM-US 18 56008369 56008369 single base substitution C T stop_gained R401* 1201C>T SKCM-US 18 56008369 56008369 single base substitution C T stop_gained R409* 1225C>T SKCM-US 18 56008928 56008928 single base substitution T C exon_variant SKCM-US 18 56008928 56008928 single base substitution T C intron_variant SKCM-US 18 56008928 56008928 single base substitution T C missense_variant S285P 853T>C SKCM-US 18 56008928 56008928 single base substitution T C missense_variant S305P 913T>C SKCM-US 18 56008928 56008928 single base substitution T C missense_variant S362P 1084T>C SKCM-US 18 56008928 56008928 single base substitution T C missense_variant S398P 1192T>C SKCM-US 18 56008928 56008928 single base substitution T C missense_variant S406P 1216T>C SKCM-US 18 56008928 56008928 single base substitution T C missense_variant S418P 1252T>C SKCM-US 18 56008928 56008928 single base substitution T C missense_variant S426P 1276T>C SKCM-US 18 56054695 56054695 single base substitution G A exon_variant SKCM-US 18 56054695 56054695 single base substitution G A intron_variant SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D502N 1504G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D697N 2089G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D698N 2092G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D717N 2149G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D734N 2200G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D774N 2320G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D810N 2428G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D818N 2452G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D830N 2488G>A SKCM-US 18 56054695 56054695 single base substitution G A missense_variant D838N 2512G>A SKCM-US 18 56054695 56054695 single base substitution G A upstream_gene_variant SKCM-US 18 56056398 56056398 single base substitution C T exon_variant SKCM-US 18 56056398 56056398 single base substitution C T intron_variant SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H541Y 1621C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H736Y 2206C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H737Y 2209C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H756Y 2266C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H773Y 2317C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H813Y 2437C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H849Y 2545C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H857Y 2569C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H869Y 2605C>T SKCM-US 18 56056398 56056398 single base substitution C T missense_variant H877Y 2629C>T SKCM-US 18 56056398 56056398 single base substitution C T upstream_gene_variant SKCM-US 18 56058729 56058729 deletion of <=200bp T - downstream_gene_variant SKCM-US 18 56058729 56058729 deletion of <=200bp T - exon_variant SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G52 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G585 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G780 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G781 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G800 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G817 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G857 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G893 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G901 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G913 SKCM-US 18 56058729 56058729 deletion of <=200bp T - frameshift_variant G921 SKCM-US 18 56063468 56063468 single base substitution G A downstream_gene_variant SKCM-US 18 56063468 56063468 single base substitution G A exon_variant SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V629V 1887G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V824V 2472G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V825V 2475G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V844V 2532G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V861V 2583G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V901V 2703G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V937V 2811G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V945V 2835G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V957V 2871G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V965V 2895G>A SKCM-US 18 56063468 56063468 single base substitution G A synonymous_variant V96V 288G>A STAD-US 18 55919283 55919283 single base substitution A G 5_prime_UTR_variant STAD-US 18 55919283 55919283 single base substitution A G exon_variant STAD-US 18 55919283 55919283 single base substitution A G intron_variant STAD-US 18 55919283 55919283 single base substitution A G synonymous_variant R90R 270A>G STAD-US 18 55919283 55919283 single base substitution A G synonymous_variant R98R 294A>G STAD-US 18 55990515 55990515 deletion of <=200bp A - downstream_gene_variant STAD-US 18 55990515 55990515 deletion of <=200bp A - exon_variant STAD-US 18 55990515 55990515 deletion of <=200bp A - frameshift_variant P146 STAD-US 18 55990515 55990515 deletion of <=200bp A - frameshift_variant P154 STAD-US 18 55990515 55990515 deletion of <=200bp A - frameshift_variant P33 STAD-US 18 55990515 55990515 deletion of <=200bp A - intron_variant STAD-US 18 55990515 55990515 deletion of <=200bp A - upstream_gene_variant STAD-US 18 55996250 55996250 single base substitution A T downstream_gene_variant STAD-US 18 55996250 55996250 single base substitution A T exon_variant STAD-US 18 55996250 55996250 single base substitution A T intron_variant STAD-US 18 55996250 55996250 single base substitution A T missense_variant N114I 341A>T STAD-US 18 55996250 55996250 single base substitution A T missense_variant N227I 680A>T STAD-US 18 55996250 55996250 single base substitution A T missense_variant N235I 704A>T STAD-US 18 55996250 55996250 single base substitution A T missense_variant N69I 206A>T STAD-US 18 55996250 55996250 single base substitution A T upstream_gene_variant STAD-US 18 55996338 55996338 single base substitution G A downstream_gene_variant STAD-US 18 55996338 55996338 single base substitution G A exon_variant STAD-US 18 55996338 55996338 single base substitution G A intron_variant STAD-US 18 55996338 55996338 single base substitution G A synonymous_variant S143S 429G>A STAD-US 18 55996338 55996338 single base substitution G A synonymous_variant S256S 768G>A STAD-US 18 55996338 55996338 single base substitution G A synonymous_variant S264S 792G>A STAD-US 18 55996338 55996338 single base substitution G A synonymous_variant S98S 294G>A STAD-US 18 55996338 55996338 single base substitution G A upstream_gene_variant STAD-US 18 56001085 56001085 single base substitution T C downstream_gene_variant STAD-US 18 56001085 56001085 single base substitution T C exon_variant STAD-US 18 56001085 56001085 single base substitution T C intron_variant STAD-US 18 56001085 56001085 single base substitution T C synonymous_variant S176S 528T>C STAD-US 18 56001085 56001085 single base substitution T C synonymous_variant S221S 663T>C STAD-US 18 56001085 56001085 single base substitution T C synonymous_variant S334S 1002T>C STAD-US 18 56001085 56001085 single base substitution T C synonymous_variant S342S 1026T>C STAD-US 18 56002750 56002750 single base substitution C T downstream_gene_variant STAD-US 18 56002750 56002750 single base substitution C T exon_variant STAD-US 18 56002750 56002750 single base substitution C T intron_variant STAD-US 18 56002750 56002750 single base substitution C T missense_variant T248M 743C>T STAD-US 18 56002750 56002750 single base substitution C T missense_variant T361M 1082C>T STAD-US 18 56002750 56002750 single base substitution C T missense_variant T369M 1106C>T STAD-US 18 56008369 56008369 single base substitution C T exon_variant STAD-US 18 56008369 56008369 single base substitution C T intron_variant STAD-US 18 56008369 56008369 single base substitution C T stop_gained R268* 802C>T STAD-US 18 56008369 56008369 single base substitution C T stop_gained R288* 862C>T STAD-US 18 56008369 56008369 single base substitution C T stop_gained R381* 1141C>T STAD-US 18 56008369 56008369 single base substitution C T stop_gained R389* 1165C>T STAD-US 18 56008369 56008369 single base substitution C T stop_gained R401* 1201C>T STAD-US 18 56008369 56008369 single base substitution C T stop_gained R409* 1225C>T STAD-US 18 56052795 56052795 single base substitution A G exon_variant STAD-US 18 56052795 56052795 single base substitution A G intron_variant STAD-US 18 56052795 56052795 single base substitution A G missense_variant K486E 1456A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K681E 2041A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K682E 2044A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K701E 2101A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K718E 2152A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K758E 2272A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K794E 2380A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K802E 2404A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K814E 2440A>G STAD-US 18 56052795 56052795 single base substitution A G missense_variant K822E 2464A>G STAD-US 18 56052795 56052795 single base substitution A G upstream_gene_variant THCA-SA 18 55862847 55862847 single base substitution G A 5_prime_UTR_variant THCA-SA 18 55862847 55862847 single base substitution G A intron_variant THCA-SA 18 55862847 55862847 single base substitution G A upstream_gene_variant THCA-SA 18 55895081 55895081 single base substitution G C 5_prime_UTR_variant THCA-SA 18 55895081 55895081 single base substitution G C exon_variant THCA-SA 18 55895081 55895081 single base substitution G C intron_variant THCA-US 18 55998052 55998052 single base substitution G T downstream_gene_variant THCA-US 18 55998052 55998052 single base substitution G T exon_variant THCA-US 18 55998052 55998052 single base substitution G T intron_variant THCA-US 18 55998052 55998052 single base substitution G T missense_variant G133V 398G>T THCA-US 18 55998052 55998052 single base substitution G T missense_variant G178V 533G>T THCA-US 18 55998052 55998052 single base substitution G T missense_variant G291V 872G>T THCA-US 18 55998052 55998052 single base substitution G T missense_variant G299V 896G>T THCA-US 18 55998052 55998052 single base substitution G T upstream_gene_variant UCEC-US 18 55833031 55833031 single base substitution T C 5_prime_UTR_variant UCEC-US 18 55833031 55833031 single base substitution T C exon_variant UCEC-US 18 55833031 55833031 single base substitution T C intron_variant UCEC-US 18 55833031 55833031 single base substitution T C synonymous_variant R12R 36T>C UCEC-US 18 55833031 55833031 single base substitution T C synonymous_variant R20R 60T>C UCEC-US 18 55833068 55833068 single base substitution G A 5_prime_UTR_variant UCEC-US 18 55833068 55833068 single base substitution G A exon_variant UCEC-US 18 55833068 55833068 single base substitution G A intron_variant UCEC-US 18 55833068 55833068 single base substitution G A missense_variant A25T 73G>A UCEC-US 18 55833068 55833068 single base substitution G A missense_variant A33T 97G>A UCEC-US 18 55989679 55989679 single base substitution G A exon_variant UCEC-US 18 55989679 55989679 single base substitution G A intron_variant UCEC-US 18 55989679 55989679 single base substitution G A missense_variant R116Q 347G>A UCEC-US 18 55989679 55989679 single base substitution G A missense_variant R124Q 371G>A UCEC-US 18 55989679 55989679 single base substitution G A missense_variant R3Q 8G>A UCEC-US 18 55989679 55989679 single base substitution G A upstream_gene_variant UCEC-US 18 55996314 55996314 single base substitution C A downstream_gene_variant UCEC-US 18 55996314 55996314 single base substitution C A exon_variant UCEC-US 18 55996314 55996314 single base substitution C A intron_variant UCEC-US 18 55996314 55996314 single base substitution C A missense_variant S135R 405C>A UCEC-US 18 55996314 55996314 single base substitution C A missense_variant S248R 744C>A UCEC-US 18 55996314 55996314 single base substitution C A missense_variant S256R 768C>A UCEC-US 18 55996314 55996314 single base substitution C A missense_variant S90R 270C>A UCEC-US 18 55996314 55996314 single base substitution C A upstream_gene_variant UCEC-US 18 56002768 56002768 single base substitution C T downstream_gene_variant UCEC-US 18 56002768 56002768 single base substitution C T exon_variant UCEC-US 18 56002768 56002768 single base substitution C T intron_variant UCEC-US 18 56002768 56002768 single base substitution C T missense_variant T254M 761C>T UCEC-US 18 56002768 56002768 single base substitution C T missense_variant T367M 1100C>T UCEC-US 18 56002768 56002768 single base substitution C T missense_variant T375M 1124C>T UCEC-US 18 56008342 56008342 single base substitution C T exon_variant UCEC-US 18 56008342 56008342 single base substitution C T intron_variant UCEC-US 18 56008342 56008342 single base substitution C T missense_variant R259C 775C>T UCEC-US 18 56008342 56008342 single base substitution C T missense_variant R279C 835C>T UCEC-US 18 56008342 56008342 single base substitution C T missense_variant R372C 1114C>T UCEC-US 18 56008342 56008342 single base substitution C T missense_variant R380C 1138C>T UCEC-US 18 56008342 56008342 single base substitution C T missense_variant R392C 1174C>T UCEC-US 18 56008342 56008342 single base substitution C T missense_variant R400C 1198C>T UCEC-US 18 56010162 56010162 single base substitution C T exon_variant UCEC-US 18 56010162 56010162 single base substitution C T intron_variant UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R327W 979C>T UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R347W 1039C>T UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R364W 1090C>T UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R404W 1210C>T UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R440W 1318C>T UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R448W 1342C>T UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R460W 1378C>T UCEC-US 18 56010162 56010162 single base substitution C T missense_variant R468W 1402C>T UCEC-US 18 56033295 56033295 single base substitution G A exon_variant UCEC-US 18 56033295 56033295 single base substitution G A intron_variant UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R297Q 890G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R492Q 1475G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R493Q 1478G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R512Q 1535G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R529Q 1586G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R569Q 1706G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R605Q 1814G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R613Q 1838G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R625Q 1874G>A UCEC-US 18 56033295 56033295 single base substitution G A missense_variant R633Q 1898G>A UCEC-US 18 56033295 56033295 single base substitution G A upstream_gene_variant UCEC-US 18 56033419 56033419 single base substitution G T downstream_gene_variant UCEC-US 18 56033419 56033419 single base substitution G T exon_variant UCEC-US 18 56033419 56033419 single base substitution G T intron_variant UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E338D 1014G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E533D 1599G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E534D 1602G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E553D 1659G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E570D 1710G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E610D 1830G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E646D 1938G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E654D 1962G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E666D 1998G>T UCEC-US 18 56033419 56033419 single base substitution G T missense_variant E674D 2022G>T UCEC-US 18 56033419 56033419 single base substitution G T upstream_gene_variant UCEC-US 18 56050532 56050532 single base substitution A G exon_variant UCEC-US 18 56050532 56050532 single base substitution A G intron_variant UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N467D 1399A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N662D 1984A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N663D 1987A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N682D 2044A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N699D 2095A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N739D 2215A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N775D 2323A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N783D 2347A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N795D 2383A>G UCEC-US 18 56050532 56050532 single base substitution A G missense_variant N803D 2407A>G UCEC-US 18 56050532 56050532 single base substitution A G upstream_gene_variant UCEC-US 18 56057899 56057899 single base substitution G A downstream_gene_variant UCEC-US 18 56057899 56057899 single base substitution G A exon_variant UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E24K 70G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E557K 1669G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E752K 2254G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E753K 2257G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E772K 2314G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E789K 2365G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E829K 2485G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E865K 2593G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E873K 2617G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E885K 2653G>A UCEC-US 18 56057899 56057899 single base substitution G A missense_variant E893K 2677G>A UCEC-US 18 56057906 56057906 single base substitution G A downstream_gene_variant UCEC-US 18 56057906 56057906 single base substitution G A exon_variant UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R26H 77G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R559H 1676G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R754H 2261G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R755H 2264G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R774H 2321G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R791H 2372G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R831H 2492G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R867H 2600G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R875H 2624G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R887H 2660G>A UCEC-US 18 56057906 56057906 single base substitution G A missense_variant R895H 2684G>A UCEC-US 18 56063419 56063419 single base substitution C A downstream_gene_variant UCEC-US 18 56063419 56063419 single base substitution C A exon_variant UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P613H 1838C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P808H 2423C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P809H 2426C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P80H 239C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P828H 2483C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P845H 2534C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P885H 2654C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P921H 2762C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P929H 2786C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P941H 2822C>A UCEC-US 18 56063419 56063419 single base substitution C A missense_variant P949H 2846C>A UCEC-US 18 56063432 56063432 single base substitution C A downstream_gene_variant UCEC-US 18 56063432 56063432 single base substitution C A exon_variant UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T617T 1851C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T812T 2436C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T813T 2439C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T832T 2496C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T849T 2547C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T84T 252C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T889T 2667C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T925T 2775C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T933T 2799C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T945T 2835C>A UCEC-US 18 56063432 56063432 single base substitution C A synonymous_variant T953T 2859C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-E2-A1L6-01 COSM1480393 c.1677C>T p.H559H Substitution - coding silent 18:58351014-58351014 + TCGA-E2-A1L6-01 COSM1480394 c.1617C>T p.H539H Substitution - coding silent 18:58351014-58351014 + CSCC-55-T COSM4510242 c.830C>T p.S277L Substitution - Missense 18:58330754-58330754 + BCM723T COSM4956341 c.1095G>A p.P365P Substitution - coding silent 18:58341067-58341067 + RK193_C01 COSM3742651 c.1025G>A p.S342N Substitution - Missense 18:58333852-58333852 + 2293782 COSM4608708 c.2015C>A p.S672Y Substitution - Missense 18:58366180-58366180 + CSCC-29-T COSM4505450 c.692C>T p.S231L Substitution - Missense 18:58329006-58329006 + 18195 COSM5346529 c.226G>A p.E76K Substitution - Missense 18:58248920-58248920 + ESCC_11 COSM5624376 c.1851C>T p.S617S Substitution - coding silent 18:58366076-58366076 + QC2-30-T2 COSM5653729 c.1530C>T p.N510N Substitution - coding silent 18:58343058-58343058 + BD6T COSM5499331 c.2488-8T>C p.? Unknown 18:58387431-58387431 + TCGA-G4-6586-01 COSM1389271 c.1689A>G p.R563R Substitution - coding silent 18:58351026-58351026 + TCGA-AA-3715-01 COSM269711 c.1138C>T p.R380C Substitution - Missense 18:58341110-58341110 + TCGA-BH-A0HP-01 COSM438249 c.229G>C p.E77Q Substitution - Missense 18:58248923-58248923 + TCGA-EM-A3AI-01 COSM3371084 c.896G>T p.G299V Substitution - Missense 18:58330820-58330820 + LIM2551 COSM4644145 c.2320G>A p.G774R Substitution - Missense 18:58383273-58383273 + PCSI_0218_Pa_P_526 COSM709263 c.1980C>T p.Y660Y Substitution - coding silent 18:58366205-58366205 + CN-AML-CR-6-Dx COSM5424806 c.302G>A p.R101Q Substitution - Missense 18:58315986-58315986 + TCGA-EE-A2M6-06 COSM3891166 c.1216T>C p.S406P Substitution - Missense 18:58341696-58341696 + CN-AML-CR-6-Dx COSM5424805 c.302G>A p.R101Q Substitution - Missense 18:58315986-58315986 + 3N09-VS-3T09 COSM4979204 c.1275G>A p.A425A Substitution - coding silent 18:58341695-58341695 + T1743 COSM4706328 c.546G>A p.S182S Substitution - coding silent 18:58325028-58325028 + SJOS001127_D1 COSM5024537 c.150C>T p.Y50Y Substitution - coding silent 18:58245454-58245454 + ESOSCC156T COSM1172554 c.1978T>A p.Y660N Substitution - Missense 18:58366143-58366143 + TCGA-AY-5543-01 COSM94812 c.2624G>A p.R875H Substitution - Missense 18:58390674-58390674 + CSCC-55-T COSM4510241 c.830C>T p.S277L Substitution - Missense 18:58330754-58330754 + S00539 COSM5658767 c.2233G>C p.E745Q Substitution - Missense 18:58373210-58373210 + PD5027a COSM3719538 c.1033G>A p.D345N Substitution - Missense 18:58333860-58333860 + TCGA-B5-A0JY-01 COSM989205 c.2022G>T p.E674D Substitution - Missense 18:58366187-58366187 + LIM2551 COSM4644144 c.2380G>A p.G794R Substitution - Missense 18:58383273-58383273 + CSCC-11-T COSM4482400 c.2540C>T p.S847F Substitution - Missense 18:58389137-58389137 + 96 COSM5013307 c.2287G>A p.G763R Substitution - Missense 18:58373264-58373264 + TCGA-B5-A0JS-01 COSM989213 c.2499C>T p.C833C Substitution - coding silent 18:58389096-58389096 + TCGA-66-2754-01 COSM709264 c.1362A>G p.L454L Substitution - coding silent 18:58341782-58341782 + T3118 COSM4706331 c.701A>G p.D234G Substitution - Missense 18:58329015-58329015 + TCGA-BH-A0HL-01 COSM438251 c.498G>A p.Q166Q Substitution - coding silent 18:58323319-58323319 + TCGA-AX-A0J1-01 COSM269711 c.1138C>T p.R380C Substitution - Missense 18:58341110-58341110 + PD5027a COSM3719537 c.1033G>A p.D345N Substitution - Missense 18:58333860-58333860 + TCGA-AP-A059-01 COSM989193 c.1124C>T p.T375M Substitution - Missense 18:58335536-58335536 + TCGA-C8-A1HM-01 COSM438248 c.52G>C p.E18Q Substitution - Missense 18:58165791-58165791 + 2159307 COSM4140122 c.769G>A p.E257K Substitution - Missense 18:58329083-58329083 + TCGA-A8-A09K-01 COSM1480396 c.1943T>A p.F648Y Substitution - Missense 18:58366168-58366168 + TCGA-BC-A10U-01 COSM4942391 c.796G>C p.G266R Substitution - Missense 18:58329110-58329110 + TCGA-BH-A0HP-01 COSM438250 c.229G>C p.E77Q Substitution - Missense 18:58248923-58248923 + TCGA-BH-A0B9-01 COSM438255 c.1402C>G p.R468G Substitution - Missense 18:58342930-58342930 + 40M COSM5585901 c.2103C>T p.L701L Substitution - coding silent 18:58367785-58367785 + PR-00-1165 COSM245992 c.347C>T p.P116L Substitution - Missense 18:58316031-58316031 + TCGA-CJ-4644-01 COSM1136067 c.1774-1G>A p.? Unknown 18:58365998-58365998 + 2159307 COSM4140121 c.769G>A p.E257K Substitution - Missense 18:58329083-58329083 + TCGA-AP-A059-01 COSM989220 c.2684G>A p.R895H Substitution - Missense 18:58390674-58390674 + sysucc-834T COSM5485964 c.2773C>T p.R925C Substitution - Missense 18:58396174-58396174 + RK309_C01 COSM3701385 c.1888G>C p.E630Q Substitution - Missense 18:58366053-58366053 + TCGA-EE-A2MI-06 COSM3526693 c.571C>T p.P191S Substitution - Missense 18:58325053-58325053 + TCGA-37-5819-01 COSM709263 c.1980C>T p.Y660Y Substitution - coding silent 18:58366205-58366205 + TCGA-D5-6929-01 COSM1389274 c.2121G>A p.L707L Substitution - coding silent 18:58367803-58367803 + TCGA-DU-7298-01 COSM3970594 c.193A>G p.T65A Substitution - Missense 18:58245497-58245497 + T163 COSM307502 c.2509G>T p.D837Y Substitution - Missense 18:58389106-58389106 + TCGA-EK-A3GK-01 COSM4854228 c.1709-1G>A p.? Unknown 18:58357193-58357193 + TCGA-EE-A3AG-06 COSM3526697 c.1165C>T p.R389* Substitution - Nonsense 18:58341137-58341137 + RMS112_ COSM4987718 c.698C>T p.S233L Substitution - Missense 18:58329012-58329012 + PT14_1 COSM5897155 c.1708-4C>T p.? Unknown 18:58364264-58364264 + RMS112_ COSM4987717 c.698C>T p.S233L Substitution - Missense 18:58329012-58329012 + LUAD-E00934 COSM393350 c.1029C>G p.V343V Substitution - coding silent 18:58333856-58333856 + TCGA-BH-A0B9-01 COSM438256 c.1342C>G p.R448G Substitution - Missense 18:58342930-58342930 + TCGA-AX-A05Z-01 COSM989187 c.371G>A p.R124Q Substitution - Missense 18:58322447-58322447 + AOCS-108-1-7 COSM4140124 c.1179G>C p.W393C Substitution - Missense 18:58341151-58341151 + A9 COSM5350456 c.1861C>G p.P621A Substitution - Missense 18:58366086-58366086 + ESO-135 COSM1258943 c.570_572delTCC p.P194delP Deletion - In frame 18:58325052-58325054 + Pat_70_B COSM1258943 c.570_572delTCC p.P194delP Deletion - In frame 18:58325052-58325054 + LS174T COSM2880691 c.2267A>G p.Y756C Substitution - Missense 18:58373184-58373184 + AOCS-091-1-3 COSM4140122 c.769G>A p.E257K Substitution - Missense 18:58329083-58329083 + TCGA-D5-6929-01 COSM1389275 c.2061G>A p.L687L Substitution - coding silent 18:58367803-58367803 + T2197 COSM4706333 c.2476G>A p.A826T Substitution - Missense 18:58385575-58385575 + TCGA-FD-A3SL-01 COSM3796465 c.1957G>A p.E653K Substitution - Missense 18:58366122-58366122 + TCGA-HU-A4GX-01 COSM4072727 c.704A>T p.N235I Substitution - Missense 18:58329018-58329018 + OSCC-GB_00460111 COSM3670216 c.784G>A p.E262K Substitution - Missense 18:58329098-58329098 + TCGA-BC-A10U-01 COSM4942392 c.796G>C p.G266R Substitution - Missense 18:58329110-58329110 + ESOSCC156T COSM1172555 c.1918T>A p.Y640N Substitution - Missense 18:58366143-58366143 + T1180 COSM3719538 c.1033G>A p.D345N Substitution - Missense 18:58333860-58333860 + TCGA-CA-6717-01 COSM1389278 c.2743G>A p.E915K Substitution - Missense 18:58390733-58390733 + 2492729 COSM5726824 c.1206C>T p.Y402Y Substitution - coding silent 18:58341118-58341118 + TCGA-13-0761-01 COSM115830 c.188C>A p.T63K Substitution - Missense 18:58245492-58245492 + TCGA-HU-A4G8-01 COSM4072734 c.2404A>G p.K802E Substitution - Missense 18:58385563-58385563 + TCGA-EE-A2M6-06 COSM3891165 c.1276T>C p.S426P Substitution - Missense 18:58341696-58341696 + TCGA-61-1910-01 COSM1324547 c.384T>C p.F128F Substitution - coding silent 18:58322460-58322460 + TCGA-EM-A3AI-01 COSM3371085 c.896G>T p.G299V Substitution - Missense 18:58330820-58330820 + TCGA-AX-A05Z-01 COSM989189 c.371G>A p.R124Q Substitution - Missense 18:58322447-58322447 + T3668 COSM4706329 c.623G>A p.R208Q Substitution - Missense 18:58325105-58325105 + sysucc-311T COSM5464331 c.2174A>C p.K725T Substitution - Missense 18:58367856-58367856 + LS174T COSM2880692 c.2207A>G p.Y736C Substitution - Missense 18:58373184-58373184 + PCSI_0547_Pa_P_526 COSM5032126 c.1738A>G p.R580G Substitution - Missense 18:58357223-58357223 + WA59 COSM240858 c.2352_2353delAA p.R785fs*33 Deletion - Frameshift 18:58383305-58383306 + Pat_26_A COSM5854315 c.50G>A p.G17E Substitution - Missense 18:58165789-58165789 + TCGA-BG-A0M4-01 COSM989201 c.1774-2A>G p.? Unknown 18:58365997-58365997 + TCGA-HU-A4G8-01 COSM4072733 c.2464A>G p.K822E Substitution - Missense 18:58385563-58385563 + 2521249 COSM5888379 c.1645C>T p.H549Y Substitution - Missense 18:58351042-58351042 + TARGET-30-PAPTAN COSM1286547 c.285C>T p.D95D Substitution - coding silent 18:58252042-58252042 + TCGA-AA-A00N-01 COSM276297 c.1837C>T p.R613W Substitution - Missense 18:58366062-58366062 + TCGA-02-0047-01 COSM3403583 c.1340G>A p.R447H Substitution - Missense 18:58342928-58342928 + BCM723T COSM4956341 c.1095G>A p.P365P Substitution - coding silent 18:58341067-58341067 + I2L-P7-Tumor-Organoid COSM5364652 c.2831C>T p.A944V Substitution - Missense 18:58396232-58396232 + TCGA-AP-A0LM-01 COSM989225 c.2859C>A p.T953T Substitution - coding silent 18:58396200-58396200 + 3N09-VS-3T09 COSM4979205 c.1215G>A p.A405A Substitution - coding silent 18:58341695-58341695 + Pat_58_A COSM5854317 c.2188G>A p.E730K Substitution - Missense 18:58370459-58370459 + pfg143T COSM4747284 c.1943_1944delTG p.W649fs*2 Deletion - Frameshift 18:58366108-58366109 + T3021 COSM4706335 c.2673C>T p.D891D Substitution - coding silent 18:58390663-58390663 + TCGA-A6-5656-01 COSM1389261 c.91G>A p.D31N Substitution - Missense 18:58165830-58165830 + WT017 COSM5352169 c.496_497insCTCT p.Q166fs*5 Insertion - Frameshift 18:58323317-58323318 + ESO-H01 COSM438247 c.52G>C p.E18Q Substitution - Missense 18:58165791-58165791 + A9 COSM5350455 c.1921C>G p.P641A Substitution - Missense 18:58366086-58366086 + C037 COSM5524424 c.2657C>T p.S886L Substitution - Missense 18:58390707-58390707 + S02400 COSM5699794 c.743G>T p.R248L Substitution - Missense 18:58329057-58329057 + LS513 COSM4646916 c.2655A>C p.T885T Substitution - coding silent 18:58390705-58390705 + PTC-14C COSM4131030 c.1019C>A p.S340* Substitution - Nonsense 18:58333846-58333846 + LUAD-S00484 COSM342880 c.116G>T p.G39V Substitution - Missense 18:58165855-58165855 + TCGA-EE-A29V-06 COSM3526703 c.2835G>A p.V945V Substitution - coding silent 18:58396236-58396236 + TCGA-EE-A2GO-06 COSM3526698 c.2512G>A p.D838N Substitution - Missense 18:58387463-58387463 + 96 COSM5013306 c.2347G>A p.G783R Substitution - Missense 18:58373264-58373264 + S02337 COSM245992 c.347C>T p.P116L Substitution - Missense 18:58316031-58316031 + TCGA-CJ-4636-01 COSM473936 c.651G>A p.R217R Substitution - coding silent 18:58325133-58325133 + TCGA-EP-A2KA-01 COSM4917443 c.1119A>G p.E373E Substitution - coding silent 18:58335531-58335531 + Pat_58_B COSM5854316 c.2248G>A p.E750K Substitution - Missense 18:58370459-58370459 + LS180 COSM2880691 c.2267A>G p.Y756C Substitution - Missense 18:58373184-58373184 + TARGET-30-PASTKW COSM1286550 c.431G>C p.G144A Substitution - Missense 18:58323252-58323252 + PT23_1 COSM1523687 c.689C>T p.S230F Substitution - Missense 18:58329003-58329003 + PT48 COSM5933726 c.1333C>T p.R445C Substitution - Missense 18:58341753-58341753 + TCGA-IN-7808-01 COSM4072730 c.792G>A p.S264S Substitution - coding silent 18:58329106-58329106 + CSCC-18-T COSM4492583 c.39C>T p.S13S Substitution - coding silent 18:58044699-58044699 + XHDG04 COSM4768339 c.2178C>G p.L726L Substitution - coding silent 18:58367860-58367860 + PTC-14C COSM4131029 c.474T>C p.G158G Substitution - coding silent 18:58323295-58323295 + T1180 COSM3719537 c.1033G>A p.D345N Substitution - Missense 18:58333860-58333860 + WA29 COSM240857 c.1404_1405insC p.K469fs*29 Insertion - Frameshift 18:58342992-58342993 + 587342 COSM1217015 c.569T>C p.L190P Substitution - Missense 18:58325051-58325051 + PT36 COSM5916667 c.205-3C>T p.? Unknown 18:58248896-58248896 + TCGA-AP-A0LM-01 COSM989227 c.2799C>A p.T933T Substitution - coding silent 18:58396200-58396200 + TCGA-A6-5656-01 COSM1389260 c.91G>A p.D31N Substitution - Missense 18:58165830-58165830 + BCM723T COSM4956340 c.1155G>A p.P385P Substitution - coding silent 18:58341067-58341067 + WT017 COSM5352170 c.496_497insCTCT p.Q166fs*5 Insertion - Frameshift 18:58323317-58323318 + TCGA-G9-6342-01 COSM3672686 c.591C>A p.P197P Substitution - coding silent 18:58325073-58325073 + TCGA-G4-6628-01 COSM1389269 c.594G>A p.G198G Substitution - coding silent 18:58325076-58325076 + BD57T COSM5004734 c.685G>A p.V229M Substitution - Missense 18:58328999-58328999 + C037 COSM5524423 c.2717C>T p.S906L Substitution - Missense 18:58390707-58390707 + DN14065 COSM5962825 c.2126-4T>G p.? Unknown 18:58370393-58370393 + T2197 COSM4706334 c.2416G>A p.A806T Substitution - Missense 18:58385575-58385575 + TCGA-EK-A3GK-01 COSM4854229 c.1649-1G>A p.? Unknown 18:58357193-58357193 + TCGA-EK-A2RE-01 COSM4820411 c.2004-2A>C p.? Unknown 18:58367744-58367744 + TCGA-C8-A1HF-01 COSM438253 c.532G>C p.D178H Substitution - Missense 18:58325014-58325014 + T3021 COSM4706336 c.2613C>T p.D871D Substitution - coding silent 18:58390663-58390663 + DN14065 COSM5962824 c.2186-4T>G p.? Unknown 18:58370393-58370393 + TARGET-30-PASTKW COSM1286549 c.431G>C p.G144A Substitution - Missense 18:58323252-58323252 + TCGA-CA-6717-01 COSM1389279 c.2683G>A p.E895K Substitution - Missense 18:58390733-58390733 + 46T COSM3670216 c.784G>A p.E262K Substitution - Missense 18:58329098-58329098 + CSCC-11-T COSM4482399 c.2600C>T p.S867F Substitution - Missense 18:58389137-58389137 + Pat_26_A COSM5854314 c.50G>A p.G17E Substitution - Missense 18:58165789-58165789 + AOCS-124-1-X COSM4140120 c.204+2T>C p.? Unknown 18:58245510-58245510 + TCGA-EE-A2MI-06 COSM3526692 c.571C>T p.P191S Substitution - Missense 18:58325053-58325053 + 2492729 COSM5726825 c.1146C>T p.Y382Y Substitution - coding silent 18:58341118-58341118 + TCGA-HE-A5NJ-01 COSM4414449 c.1880G>C p.R627T Substitution - Missense 18:58366105-58366105 + TCGA-C8-A1HF-01 COSM438254 c.532G>C p.D178H Substitution - Missense 18:58325014-58325014 + TCGA-AX-A05Z-01 COSM989181 c.60T>C p.R20R Substitution - coding silent 18:58165799-58165799 + TCGA-BH-A0HL-01 COSM438252 c.498G>A p.Q166Q Substitution - coding silent 18:58323319-58323319 + TCGA-D8-A1XJ-01 COSM1480398 c.2464A>C p.I822L Substitution - Missense 18:58387475-58387475 + TCGA-HU-A4G8-01 COSM4072731 c.1026T>C p.S342S Substitution - coding silent 18:58333853-58333853 + sysucc-311T COSM5464332 c.2114A>C p.K705T Substitution - Missense 18:58367856-58367856 + TCGA-AZ-6601-01 COSM989214 c.2560G>A p.G854S Substitution - Missense 18:58389097-58389097 + ESOSCC156T COSM1172556 c.1981delG p.G662fs*66 Deletion - Frameshift 18:58366146-58366146 + S02400 COSM5699791 c.326A>T p.D109V Substitution - Missense 18:58316010-58316010 + TCGA-B5-A11X-01 COSM989210 c.2347A>G p.N783D Substitution - Missense 18:58383300-58383300 + TCGA-B5-A11H-01 COSM989184 c.97G>A p.A33T Substitution - Missense 18:58165836-58165836 + ESOSCC156T COSM1172557 c.1921delG p.G642fs*66 Deletion - Frameshift 18:58366146-58366146 + TCGA-HU-A4GX-01 COSM4072728 c.704A>T p.N235I Substitution - Missense 18:58329018-58329018 + 40M COSM5585902 c.2043C>T p.L681L Substitution - coding silent 18:58367785-58367785 + 61 COSM5741279 c.1094C>T p.S365L Substitution - Missense 18:58335506-58335506 + LS513 COSM4646915 c.2715A>C p.T905T Substitution - coding silent 18:58390705-58390705 + PT24_2 COSM989219 c.2617G>A p.E873K Substitution - Missense 18:58390667-58390667 + TCGA-AA-A010-01 COSM299368 c.1648+10C>T p.? Unknown 18:58351055-58351055 + S00539 COSM5658766 c.2293G>C p.E765Q Substitution - Missense 18:58373210-58373210 + 61 COSM5741281 c.1474C>T p.R492W Substitution - Missense 18:58343062-58343062 + TCGA-18-3409-01 COSM709266 c.589C>T p.P197S Substitution - Missense 18:58325071-58325071 + TCGA-HU-A4H3-01 COSM2880658 c.1106C>T p.T369M Substitution - Missense 18:58335518-58335518 + ESCC-210T COSM269711 c.1138C>T p.R380C Substitution - Missense 18:58341110-58341110 + PAPNNX COSM5004734 c.685G>A p.V229M Substitution - Missense 18:58328999-58328999 + T3668 COSM4706330 c.623G>A p.R208Q Substitution - Missense 18:58325105-58325105 + TCGA-61-1910-01 COSM1324546 c.384T>C p.F128F Substitution - coding silent 18:58322460-58322460 + C391 COSM2880637 c.748C>T p.R250C Substitution - Missense 18:58329062-58329062 + TCGA-EE-A182-06 COSM3526691 c.530T>A p.V177D Substitution - Missense 18:58325012-58325012 + BD6T COSM5499332 c.2428-8T>C p.? Unknown 18:58387431-58387431 + 74 COSM4778164 c.1282T>C p.S428P Substitution - Missense 18:58341702-58341702 + TCGA-FU-A3HY-01 COSM4838648 c.1891G>C p.E631Q Substitution - Missense 18:58366116-58366116 + pfg068T COSM4755731 c.539A>G p.N180S Substitution - Missense 18:58325021-58325021 + 2293782 COSM4608709 c.1955C>A p.S652Y Substitution - Missense 18:58366180-58366180 + TCGA-BR-6452-01 COSM4072726 c.294A>G p.R98R Substitution - coding silent 18:58252051-58252051 + T3090 COSM2880638 c.786G>A p.E262E Substitution - coding silent 18:58329100-58329100 + S02400 COSM5699792 c.326A>T p.D109V Substitution - Missense 18:58316010-58316010 + ESCC_77 COSM5635350 c.1334G>A p.R445H Substitution - Missense 18:58341754-58341754 + TCGA-A8-A09K-01 COSM1480395 c.2003T>A p.F668Y Substitution - Missense 18:58366168-58366168 + 46T COSM3670217 c.784G>A p.E262K Substitution - Missense 18:58329098-58329098 + TCGA-CA-6717-01 COSM3422251 c.2364C>T p.I788I Substitution - coding silent 18:58383317-58383317 + RK193_C01 COSM3742650 c.1025G>A p.S342N Substitution - Missense 18:58333852-58333852 + TCGA-UB-A7MF-01 COSM4918834 c.1842A>G p.R614R Substitution - coding silent 18:58366067-58366067 + PTC-14C COSM4131028 c.474T>C p.G158G Substitution - coding silent 18:58323295-58323295 + HX27T COSM3717962 c.616T>A p.L206I Substitution - Missense 18:58325098-58325098 + TCGA-B5-A11H-01 COSM989186 c.97G>A p.A33T Substitution - Missense 18:58165836-58165836 + 112461 COSM94809 c.329T>A p.V110E Substitution - Missense 18:58316013-58316013 + TCGA-B5-A11E-01 COSM989196 c.1402C>T p.R468W Substitution - Missense 18:58342930-58342930 + AOCS-108-1-7 COSM4140123 c.1239G>C p.W413C Substitution - Missense 18:58341151-58341151 + TCGA-66-2754-01 COSM709265 c.1302A>G p.L434L Substitution - coding silent 18:58341782-58341782 + 225 COSM4425742 c.1812A>T p.R604S Substitution - Missense 18:58366037-58366037 + CHEWS024 COSM4580468 c.742C>T p.R248C Substitution - Missense 18:58329056-58329056 + TCGA-18-3409-01 COSM709267 c.589C>T p.P197S Substitution - Missense 18:58325071-58325071 + TCGA-B5-A0JY-01 COSM989207 c.1962G>T p.E654D Substitution - Missense 18:58366187-58366187 + T3151 COSM989186 c.97G>A p.A33T Substitution - Missense 18:58165836-58165836 + Pat_58_B COSM5854317 c.2188G>A p.E730K Substitution - Missense 18:58370459-58370459 + TCGA-UB-A7MF-01 COSM4918833 c.1902A>G p.R634R Substitution - coding silent 18:58366067-58366067 + HCC54 COSM1611312 c.86G>T p.G29V Substitution - Missense 18:58165825-58165825 + ESO-135 COSM1258944 c.570_572delTCC p.P194delP Deletion - In frame 18:58325052-58325054 + RK309_C01 COSM3701386 c.1828G>C p.E610Q Substitution - Missense 18:58366053-58366053 + CHEWS024 COSM4580467 c.742C>T p.R248C Substitution - Missense 18:58329056-58329056 + LS180 COSM2880692 c.2207A>G p.Y736C Substitution - Missense 18:58373184-58373184 + YUTUR COSM5388281 c.1263C>T p.I421I Substitution - coding silent 18:58341743-58341743 + YUTUR COSM5388280 c.1323C>T p.I441I Substitution - coding silent 18:58341743-58341743 + TCGA-EE-A2GO-06 COSM3526689 c.343C>T p.L115F Substitution - Missense 18:58316027-58316027 + XHDG04 COSM4768340 c.2118C>G p.L706L Substitution - coding silent 18:58367860-58367860 + 105237 COSM94812 c.2624G>A p.R875H Substitution - Missense 18:58390674-58390674 + TCGA-BG-A0M4-01 COSM989192 c.768C>A p.S256R Substitution - Missense 18:58329082-58329082 + GC_299T1-GC_299N COSM4772577 c.1519G>T p.D507Y Substitution - Missense 18:58349540-58349540 + LUAD-B00416 COSM390990 c.1081delG p.R362fs*75 Deletion - Frameshift 18:58335493-58335493 + TCGA-B5-A11Y-01 COSM989219 c.2617G>A p.E873K Substitution - Missense 18:58390667-58390667 + TCGA-EI-6917-01 COSM3422250 c.2424C>T p.I808I Substitution - coding silent 18:58383317-58383317 + TCGA-C8-A1HM-01 COSM438247 c.52G>C p.E18Q Substitution - Missense 18:58165791-58165791 + TCGA-D9-A149-06 COSM3526694 c.694G>A p.E232K Substitution - Missense 18:58329008-58329008 + ESO-H01 COSM438248 c.52G>C p.E18Q Substitution - Missense 18:58165791-58165791 + QC2-30-T2 COSM262378 c.1470C>T p.N490N Substitution - coding silent 18:58343058-58343058 + TCGA-HE-A5NJ-01 COSM4414448 c.1940G>C p.R647T Substitution - Missense 18:58366105-58366105 + ESCC-210T COSM989194 c.1198C>T p.R400C Substitution - Missense 18:58341110-58341110 + HX27T COSM3717963 c.616T>A p.L206I Substitution - Missense 18:58325098-58325098 + PT24_2 COSM989217 c.2677G>A p.E893K Substitution - Missense 18:58390667-58390667 + BCM723T COSM4956340 c.1155G>A p.P385P Substitution - coding silent 18:58341067-58341067 + ICGC_PA71 COSM3670217 c.784G>A p.E262K Substitution - Missense 18:58329098-58329098 + HCC2998 COSM989194 c.1198C>T p.R400C Substitution - Missense 18:58341110-58341110 + C391 COSM2880636 c.748C>T p.R250C Substitution - Missense 18:58329062-58329062 + Pat_70_B COSM1258944 c.570_572delTCC p.P194delP Deletion - In frame 18:58325052-58325054 + TCGA-EE-A29V-06 COSM3526702 c.2895G>A p.V965V Substitution - coding silent 18:58396236-58396236 + ICGC_PA71 COSM3670216 c.784G>A p.E262K Substitution - Missense 18:58329098-58329098 + TCGA-37-5819-01 COSM709262 c.2040C>T p.Y680Y Substitution - coding silent 18:58366205-58366205 + PT50 COSM5937774 c.492T>G p.S164R Substitution - Missense 18:58323313-58323313 + TCGA-CJ-4636-01 COSM473935 c.651G>A p.R217R Substitution - coding silent 18:58325133-58325133 + TCGA-BR-6452-01 COSM4072725 c.294A>G p.R98R Substitution - coding silent 18:58252051-58252051 + TARGET-30-PASXNN COSM1286551 c.696G>A p.E232E Substitution - coding silent 18:58329010-58329010 + I2L-P7-Tumor-Organoid COSM5364651 c.2891C>T p.A964V Substitution - Missense 18:58396232-58396232 + T3151 COSM989184 c.97G>A p.A33T Substitution - Missense 18:58165836-58165836 + HCC54T COSM1611312 c.86G>T p.G29V Substitution - Missense 18:58165825-58165825 + TCGA-G4-6586-01 COSM1389272 c.1629A>G p.R543R Substitution - coding silent 18:58351026-58351026 + TCGA-B5-A11E-01 COSM989202 c.1898G>A p.R633Q Substitution - Missense 18:58366063-58366063 + TCGA-EE-A3AG-06 COSM3526696 c.1225C>T p.R409* Substitution - Nonsense 18:58341137-58341137 + HCC2998 COSM269711 c.1138C>T p.R380C Substitution - Missense 18:58341110-58341110 + PT36 COSM5916668 c.205-3C>T p.? Unknown 18:58248896-58248896 + CSCC-49-T COSM4487007 c.312C>T p.F104F Substitution - coding silent 18:58315996-58315996 + 2521249 COSM5888378 c.1705C>T p.H569Y Substitution - Missense 18:58351042-58351042 + AOCS-124-1-X COSM4140119 c.204+2T>C p.? Unknown 18:58245510-58245510 + 0069_CRUK_PC_0069_T1_DNA COSM4417881 c.269T>A p.L90Q Substitution - Missense 18:58252026-58252026 + sysucc-834T COSM5485963 c.2833C>T p.R945C Substitution - Missense 18:58396174-58396174 + LIM1899 COSM4640160 c.758G>T p.R253M Substitution - Missense 18:58329072-58329072 + 587278 COSM1217013 c.620G>A p.G207D Substitution - Missense 18:58325102-58325102 + PCSI_0547_Pa_P_526 COSM5032127 c.1678A>G p.R560G Substitution - Missense 18:58357223-58357223 + AOCS-091-1-3 COSM4140121 c.769G>A p.E257K Substitution - Missense 18:58329083-58329083 + LIM1899 COSM4640161 c.758G>T p.R253M Substitution - Missense 18:58329072-58329072 + TCGA-02-0047-01 COSM3403582 c.1400G>A p.R467H Substitution - Missense 18:58342928-58342928 + TCGA-B5-A0K9-01 COSM989216 c.2500G>A p.G834S Substitution - Missense 18:58389097-58389097 + TCGA-DU-6402-01 COSM3970595 c.1214A>G p.N405S Substitution - Missense 18:58341126-58341126 + PAPNNX COSM5004735 c.685G>A p.V229M Substitution - Missense 18:58328999-58328999 + TARGET-30-PASXNN COSM1286552 c.696G>A p.E232E Substitution - coding silent 18:58329010-58329010 + TCGA-DU-7298-01 COSM3970593 c.193A>G p.T65A Substitution - Missense 18:58245497-58245497 + CSCC-49-T COSM4487008 c.312C>T p.F104F Substitution - coding silent 18:58315996-58315996 + T3527 COSM2880637 c.748C>T p.R250C Substitution - Missense 18:58329062-58329062 + TCGA-G9-6342-01 COSM3672687 c.591C>A p.P197P Substitution - coding silent 18:58325073-58325073 + TCGA-B5-A11E-01 COSM989198 c.1342C>T p.R448W Substitution - Missense 18:58342930-58342930 + TCGA-FU-A3HY-01 COSM4838647 c.1951G>C p.E651Q Substitution - Missense 18:58366116-58366116 + TCGA-AG-A002-01 COSM262379 c.1816A>C p.N606H Substitution - Missense 18:58366041-58366041 + TCGA-B5-A11Y-01 COSM989217 c.2677G>A p.E893K Substitution - Missense 18:58390667-58390667 + TCGA-BR-8078-01 COSM3526696 c.1225C>T p.R409* Substitution - Nonsense 18:58341137-58341137 + TCGA-IN-7808-01 COSM4072729 c.792G>A p.S264S Substitution - coding silent 18:58329106-58329106 + CSCC-29-T COSM4505449 c.692C>T p.S231L Substitution - Missense 18:58329006-58329006 + TCGA-EI-6917-01 COSM3422251 c.2364C>T p.I788I Substitution - coding silent 18:58383317-58383317 + TCGA-CJ-4644-01 COSM1136066 c.1834-1G>A p.? Unknown 18:58365998-58365998 + T3527 COSM2880636 c.748C>T p.R250C Substitution - Missense 18:58329062-58329062 + TCGA-BR-8078-01 COSM3526697 c.1165C>T p.R389* Substitution - Nonsense 18:58341137-58341137 + PT23_1 COSM1523688 c.689C>T p.S230F Substitution - Missense 18:58329003-58329003 + HCC54T COSM1611313 c.86G>T p.G29V Substitution - Missense 18:58165825-58165825 + BD57T COSM5004735 c.685G>A p.V229M Substitution - Missense 18:58328999-58328999 + 74 COSM4778165 c.1222T>C p.S408P Substitution - Missense 18:58341702-58341702 + TCGA-AY-5543-01 COSM989220 c.2684G>A p.R895H Substitution - Missense 18:58390674-58390674 + 2334202 COSM321984 c.2701G>C p.G901R Substitution - Missense 18:58391495-58391495 + GC_299T1-GC_299N COSM4772576 c.1579G>T p.D527Y Substitution - Missense 18:58349540-58349540 + SJOS001127_D1 COSM5024538 c.150C>T p.Y50Y Substitution - coding silent 18:58245454-58245454 + TCGA-AG-A002-01 COSM262378 c.1470C>T p.N490N Substitution - coding silent 18:58343058-58343058 + OSCC-GB_00460111 COSM3670217 c.784G>A p.E262K Substitution - Missense 18:58329098-58329098 + 0069_CRUK_PC_0069_T1_DNA COSM4417882 c.269T>A p.L90Q Substitution - Missense 18:58252026-58252026 + TCGA-AP-A059-01 COSM94812 c.2624G>A p.R875H Substitution - Missense 18:58390674-58390674 + CSCC-18-T COSM4492582 c.39C>T p.S13S Substitution - coding silent 18:58044699-58044699 + PCSI_0218_Pa_P_526 COSM709262 c.2040C>T p.Y680Y Substitution - coding silent 18:58366205-58366205 + 225 COSM4425741 c.1872A>T p.R624S Substitution - Missense 18:58366037-58366037 + TCGA-AX-A05Z-01 COSM989183 c.60T>C p.R20R Substitution - coding silent 18:58165799-58165799 + TCGA-F4-6856-01 COSM269711 c.1138C>T p.R380C Substitution - Missense 18:58341110-58341110 + TARGET-30-PAPTAN COSM1286548 c.285C>T p.D95D Substitution - coding silent 18:58252042-58252042 + TCGA-HU-A4G8-01 COSM4072732 c.1026T>C p.S342S Substitution - coding silent 18:58333853-58333853 + TCGA-AA-A010-01 COSM283183 c.835G>A p.E279K Substitution - Missense 18:58330759-58330759 + TCGA-D8-A1XJ-01 COSM1480397 c.2524A>C p.I842L Substitution - Missense 18:58387475-58387475 + PT50 COSM5937773 c.492T>G p.S164R Substitution - Missense 18:58323313-58323313 + TCGA-D9-A149-06 COSM3526695 c.694G>A p.E232K Substitution - Missense 18:58329008-58329008 + TCGA-DU-6402-01 COSM3970596 c.1154A>G p.N385S Substitution - Missense 18:58341126-58341126 + Au3 COSM5601904 c.1358C>T p.T453I Substitution - Missense 18:58342946-58342946 + TCGA-AN-A03Y-01 COSM438258 c.2788C>G p.P930A Substitution - Missense 18:58396189-58396189 + TCGA-FD-A3SL-01 COSM3796466 c.1897G>A p.E633K Substitution - Missense 18:58366122-58366122 + T1743 COSM4706327 c.546G>A p.S182S Substitution - coding silent 18:58325028-58325028 + PT14_1 COSM5897154 c.1768-4C>T p.? Unknown 18:58364264-58364264 + 86507 COSM94811 c.1025G>T p.S342I Substitution - Missense 18:58333852-58333852 + TCGA-EE-A2GO-06 COSM3526699 c.2452G>A p.D818N Substitution - Missense 18:58387463-58387463 + TCGA-F4-6856-01 COSM989194 c.1198C>T p.R400C Substitution - Missense 18:58341110-58341110 + 61 COSM5741280 c.1534C>T p.R512W Substitution - Missense 18:58343062-58343062 + TCGA-GN-A266-06 COSM3526701 c.2569C>T p.H857Y Substitution - Missense 18:58389166-58389166 + 18195 COSM5346530 c.226G>A p.E76K Substitution - Missense 18:58248920-58248920 + TCGA-GN-A266-06 COSM3526700 c.2629C>T p.H877Y Substitution - Missense 18:58389166-58389166 + RK036_C01 COSM1630616 c.613A>G p.N205D Substitution - Missense 18:58325095-58325095 + S02400 COSM5699793 c.743G>T p.R248L Substitution - Missense 18:58329057-58329057 + 07-P1079 COSM4580469 c.1101T>C p.T367T Substitution - coding silent 18:58335513-58335513 + TCGA-CZ-5466-01 COSM473937 c.2160C>T p.A720A Substitution - coding silent 18:58367842-58367842 + pfg143T COSM4747285 c.1883_1884delTG p.W629fs*2 Deletion - Frameshift 18:58366108-58366109 + TCGA-EE-A182-06 COSM3526690 c.530T>A p.V177D Substitution - Missense 18:58325012-58325012 + TCGA-AX-A0J1-01 COSM989194 c.1198C>T p.R400C Substitution - Missense 18:58341110-58341110 + TCGA-B5-A11E-01 COSM989204 c.1838G>A p.R613Q Substitution - Missense 18:58366063-58366063 + HCC54 COSM1611313 c.86G>T p.G29V Substitution - Missense 18:58165825-58165825 + TCGA-AN-A03Y-01 COSM438257 c.2848C>G p.P950A Substitution - Missense 18:58396189-58396189 + TCGA-CZ-5466-01 COSM473938 c.2100C>T p.A700A Substitution - coding silent 18:58367842-58367842 + PT48 COSM5933727 c.1273C>T p.R425C Substitution - Missense 18:58341753-58341753 + 587278 COSM1217014 c.620G>A p.G207D Substitution - Missense 18:58325102-58325102 + Pat_58_A COSM5854316 c.2248G>A p.E750K Substitution - Missense 18:58370459-58370459 + S02337 COSM4386997 c.347C>T p.P116L Substitution - Missense 18:58316031-58316031 + 86319 COSM94810 c.517G>A p.G173R Substitution - Missense 18:58324999-58324999 + 587342 COSM1217016 c.569T>C p.L190P Substitution - Missense 18:58325051-58325051 + TCGA-EK-A2RE-01 COSM4820410 c.2064-2A>C p.? Unknown 18:58367744-58367744 + ESCC_77 COSM5635351 c.1274G>A p.R425H Substitution - Missense 18:58341754-58341754 + PTC-14C COSM4131031 c.1019C>A p.S340* Substitution - Nonsense 18:58333846-58333846 + TCGA-AZ-6601-01 COSM989216 c.2500G>A p.G834S Substitution - Missense 18:58389097-58389097 + TCGA-G4-6628-01 COSM1389268 c.594G>A p.G198G Substitution - coding silent 18:58325076-58325076 + RK036_C01 COSM1630615 c.613A>G p.N205D Substitution - Missense 18:58325095-58325095 + Au3 COSM5601903 c.1418C>T p.T473I Substitution - Missense 18:58342946-58342946 + TCGA-AU-6004-01 COSM1389270 c.1091G>A p.R364H Substitution - Missense 18:58335503-58335503 + PR-04-1367 COSM245993 c.96C>T p.L32L Substitution - coding silent 18:58165835-58165835 + TCGA-D1-A174-01 COSM989224 c.2786C>A p.P929H Substitution - Missense 18:58396187-58396187 + ESCC_11 COSM5624375 c.1911C>T p.S637S Substitution - coding silent 18:58366076-58366076 + TCGA-CA-6717-01 COSM3422250 c.2424C>T p.I808I Substitution - coding silent 18:58383317-58383317 + TCGA-D1-A17U-01 COSM989180 c.58C>T p.R20C Substitution - Missense 18:58165797-58165797 + TCGA-EE-A2GO-06 COSM3526688 c.343C>T p.L115F Substitution - Missense 18:58316027-58316027 + pfg068T COSM4755732 c.539A>G p.N180S Substitution - Missense 18:58325021-58325021 + U2940 COSM5621367 c.1808A>G p.Y603C Substitution - Missense 18:58364308-58364308 + T3118 COSM4706332 c.701A>G p.D234G Substitution - Missense 18:58329015-58329015 + U2940 COSM5621368 c.1748A>G p.Y583C Substitution - Missense 18:58364308-58364308 + T3090 COSM2880639 c.786G>A p.E262E Substitution - coding silent 18:58329100-58329100 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.185677 18q21 606384

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I842L c.2524A>C 18 56054707 BRCA A G IntronicSNV . c.49-39606A>G 18 55793414 CLL A G Missense p.N205D c.613A>G 18 55992327 HC A G Missense p.N405S c.1214A>G 18 56008358 LGG A G Missense p.N803D c.2407A>G 18 56050532 UCEC A G Missense p.T65A c.193A>G 18 55912729 LGG A G Synonymous p.L454L c.1362A>G 18 56009014 LUSC A T Missense p.R253W c.757A>T 18 55996303 LUAD C A IntronicSNV . c.297+13796C>A 18 55933082 CLL C A Missense p.P949H c.2846C>A 18 56063419 UCEC C A Missense p.S256R c.768C>A 18 55996314 UCEC C A Missense p.T63K c.188C>A 18 55912724 OV CC TT Missense p.P579S c.1734_1735delinsTT 18 56024451 CM CC TT Missense p.Q187* c.558_559delinsTT 18 55992272 CM CC TT Missense p.R442C c.1323_1324delinsTT 18 56008975 CM CG GT Missense p.R217V c.649_650delinsGT 18 55992363 CM C G Missense p.P950A c.2848C>G 18 56063421 BRCA C G Missense p.R468G c.1402C>G 18 56010162 BRCA C T IntronicSNV . c.122+29759C>T 18 55862852 PAAD C T IntronicSNV . c.122+29773C>T 18 55862866 ESCA C T Missense p.L115F c.343C>T 18 55983259 CM C T Missense p.P191S c.571C>T 18 55992285 CM C T Missense p.P194L c.581C>T 18 55992295 STAD C T Missense p.P836S c.2506C>T 18 56054689 CM C T Nonsense p.R409* c.1225C>T 18 56008369 CM C T Synonymous p.D109D c.327C>T 18 55983243 BRCA C T Synonymous p.D95D c.285C>T 18 55919274 NB C T Synonymous p.H559H c.1677C>T 18 56018246 BRCA C T Synonymous p.I614I c.1842C>T 18 56033239 CM C T Synonymous p.N690N c.2070C>T 18 56034984 CM C T Synonymous p.Y680Y c.2040C>T 18 56033437 LUSC G A IntronicSNV . c.122+3724G>A 18 55836817 CLL G A Missense p.A33T c.97G>A 18 55833068 UCEC G A Missense p.D15N c.43G>A 18 55711935 HNSC G A Missense p.D838N c.2512G>A 18 56054695 CM G A Missense p.E232K c.694G>A 18 55996240 CM G A Missense p.E893K c.2677G>A 18 56057899 UCEC G A Missense p.R247Q c.740G>A 18 55996286 HNSC G A Missense p.R467H c.1400G>A 18 56010160 GBM G A SpliceAcceptorSNV . c.1834-1G>A 18 56033230 RCCC G A Synonymous p.E232E c.696G>A 18 55996242 NB G A Synonymous p.Q166Q c.498G>A 18 55990551 BRCA G A Synonymous p.R217R c.651G>A 18 55992365 RCCC G A Synonymous p.V965V c.2895G>A 18 56063468 CM G C Missense p.D178H c.532G>C 18 55992246 BRCA G C Missense p.E18Q c.52G>C 18 55833023 ESCA G C Missense p.E77Q c.229G>C 18 55916155 BRCA G C Missense p.G144A c.431G>C 18 55990484 NB G C Missense p.G921R c.2761G>C 18 56058727 SCLC G T Missense p.G299V c.896G>T 18 55998052 THCA G T Missense p.G588V c.1763G>T 18 56024480 LUAD G T Missense p.G662C c.1984G>T 18 56033381 LUAD T A Missense p.F668Y c.2003T>A 18 56033400 BRCA T A Missense p.V177D c.530T>A 18 55992244 CM TCC - InFrameDeletion p.P194delP c.581_583delCTC 18 55992284 GBM TCC - InFrameDeletion p.P194delP c.581_583delCTC 18 55992284 PRAD TCC - InFrameDeletion p.P194delP c.581_583delCTC 18 55992284 THCA T C Missense p.L311P c.932T>C 18 55998088 STAD T C Missense p.S426P c.1276T>C 18 56008928 CM T - Frameshift p.P922Lfs*6 c.2763delT 18 56058729 CM T - Frameshift p.Y79Ifs*4 c.235delT 18 55916158 GBM