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 12 62777929 62777929 + Missense_Mutation SNP G G T TCGA-P6-A5OF-01A-11D-A29I-10 TCGA-P6-A5OF-10A-01D-A29L-10 g.chr12:62777929G>T c.1319G>T c.(1318-1320)gGc>gTc p.G440V ACC 12 62778065 62778065 + Silent SNP A A G TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr12:62778065A>G c.1455A>G c.(1453-1455)ccA>ccG p.P485P ACC 12 62783220 62783220 + Missense_Mutation SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:62783220G>A c.1483G>A c.(1483-1485)Gtt>Att p.V495I BLCA 12 62708610 62708610 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr12:62708610G>A c.388G>A c.(388-390)Gaa>Aaa p.E130K BLCA 12 62708640 62708640 + Missense_Mutation SNP G G A TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr12:62708640G>A c.418G>A c.(418-420)Gaa>Aaa p.E140K BLCA 12 62749141 62749141 + Missense_Mutation SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr12:62749141C>T c.800C>T c.(799-801)tCa>tTa p.S267L BLCA 12 62749191 62749191 + Missense_Mutation SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr12:62749191G>A c.850G>A c.(850-852)Gaa>Aaa p.E284K BLCA 12 62777719 62777719 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr12:62777719G>C c.1188G>C c.(1186-1188)ttG>ttC p.L396F BLCA 12 62777939 62777939 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 g.chr12:62777939A>G c.1329A>G c.(1327-1329)aaA>aaG p.K443K BLCA 12 62783261 62783261 + Silent SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr12:62783261A>G c.1524A>G c.(1522-1524)gcA>gcG p.A508A BLCA 12 62784646 62784646 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr12:62784646G>A c.1847G>A c.(1846-1848)cGa>cAa p.R616Q BLCA 12 62784963 62784963 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr12:62784963G>A c.1987G>A c.(1987-1989)Gat>Aat p.D663N BLCA 12 62785091 62785091 + Silent SNP G G C TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr12:62785091G>C c.2115G>C c.(2113-2115)acG>acC p.T705T BLCA 12 62785202 62785202 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr12:62785202G>A c.2226G>A c.(2224-2226)agG>agA p.R742R BLCA 12 62785206 62785206 + Missense_Mutation SNP G G C TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr12:62785206G>C c.2230G>C c.(2230-2232)Gat>Cat p.D744H BLCA 12 62790135 62790135 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr12:62790135G>C c.2631G>C c.(2629-2631)ctG>ctC p.L877L BLCA 12 62795014 62795014 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr12:62795014G>C c.2722G>C c.(2722-2724)Gat>Cat p.D908H BLCA 12 62798096 62798096 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr12:62798096G>A c.2887G>A c.(2887-2889)Gaa>Aaa p.E963K BRCA 12 62749202 62749202 + Silent SNP C C G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 g.chr12:62749202C>G c.861C>G c.(859-861)ggC>ggG p.G287G BRCA 12 62749215 62749215 + Missense_Mutation SNP A A G TCGA-AO-A03O-01A-11W-A019-09 TCGA-AO-A03O-10A-01W-A021-09 g.chr12:62749215A>G c.874A>G c.(874-876)Agt>Ggt p.S292G BRCA 12 62775318 62775318 + Missense_Mutation SNP G G C TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 g.chr12:62775318G>C c.963G>C c.(961-963)aaG>aaC p.K321N BRCA 12 62784666 62784666 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr12:62784666G>A c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K BRCA 12 62786055 62786056 + Frame_Shift_Del DEL TT TT - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr12:62786055_62786056delTT c.2308_2309delTT c.(2308-2310)tttfs p.F770fs BRCA 12 62786084 62786084 + Silent SNP A A G TCGA-D8-A146-01A-31D-A10Y-09 TCGA-D8-A146-10A-01D-A110-09 g.chr12:62786084A>G c.2337A>G c.(2335-2337)aaA>aaG p.K779K BRCA 12 62786838 62786838 + Missense_Mutation SNP G G A TCGA-A2-A0SW-01A-11D-A099-09 TCGA-A2-A0SW-10A-01W-A097-09 g.chr12:62786838G>A c.2426G>A c.(2425-2427)tGt>tAt p.C809Y BRCA 12 62790158 62790158 + Missense_Mutation SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr12:62790158G>T c.2654G>T c.(2653-2655)gGa>gTa p.G885V BRCA 12 62794993 62794993 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:62794993G>A c.2701G>A c.(2701-2703)Gat>Aat p.D901N BRCA 12 62795052 62795052 + Silent SNP T T A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:62795052T>A c.2760T>A c.(2758-2760)atT>atA p.I920I CESC 12 62775325 62775325 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr12:62775325G>A c.970G>A c.(970-972)Gaa>Aaa p.E324K CESC 12 62784715 62784715 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr12:62784715T>G c.1916T>G c.(1915-1917)aTt>aGt p.I639S CESC 12 62798108 62798108 + Missense_Mutation SNP G G C TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr12:62798108G>C c.2899G>C c.(2899-2901)Gat>Cat p.D967H COAD 12 62696589 62696589 + Missense_Mutation SNP T T G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr12:62696589T>G c.236T>G c.(235-237)cTt>cGt p.L79R COAD 12 62696652 62696652 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:62696652T>G c.299T>G c.(298-300)cTt>cGt p.L100R COAD 12 62708651 62708651 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:62708651C>T c.429C>T c.(427-429)aaC>aaT p.N143N COAD 12 62715258 62715258 + Missense_Mutation SNP G G T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:62715258G>T c.489G>T c.(487-489)aaG>aaT p.K163N COAD 12 62715332 62715332 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:62715332T>G c.563T>G c.(562-564)tTt>tGt p.F188C COAD 12 62777731 62777732 + Frame_Shift_Ins INS - - A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:62777731_62777732insA c.1200_1201insA c.(1201-1203)aaafs p.K401fs COAD 12 62777737 62777737 + Missense_Mutation SNP A A C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr12:62777737A>C c.1206A>C c.(1204-1206)aaA>aaC p.K402N COAD 12 62777896 62777896 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:62777896G>A c.1286G>A c.(1285-1287)cGa>cAa p.R429Q COAD 12 62783576 62783576 + Splice_Site SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:62783576G>T c.e14-1 COAD 12 62785022 62785022 + Silent SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr12:62785022T>C c.2046T>C c.(2044-2046)gaT>gaC p.D682D COAD 12 62785027 62785027 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:62785027T>G c.2051T>G c.(2050-2052)gTt>gGt p.V684G COAD 12 62786926 62786926 + Missense_Mutation SNP T T G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr12:62786926T>G c.2514T>G c.(2512-2514)ttT>ttG p.F838L COAD 12 62790140 62790140 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:62790140C>T c.2636C>T c.(2635-2637)gCt>gTt p.A879V COAD 12 62794998 62794998 + Frame_Shift_Del DEL A A - TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:62794998delA c.2706delA c.(2704-2706)ggafs p.G902fs COAD 12 62798030 62798030 + Frame_Shift_Del DEL T T - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:62798030delT c.2821delT c.(2821-2823)tttfs p.F942fs COAD 12 62798063 62798063 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr12:62798063T>C c.2854T>C c.(2854-2856)Tca>Cca p.S952P COADREAD 12 62696589 62696589 + Missense_Mutation SNP T T G TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr12:62696589T>G c.236T>G c.(235-237)cTt>cGt p.L79R COADREAD 12 62696652 62696652 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:62696652T>G c.299T>G c.(298-300)cTt>cGt p.L100R COADREAD 12 62708651 62708651 + Silent SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:62708651C>T c.429C>T c.(427-429)aaC>aaT p.N143N COADREAD 12 62715258 62715258 + Missense_Mutation SNP G G T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:62715258G>T c.489G>T c.(487-489)aaG>aaT p.K163N COADREAD 12 62715332 62715332 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:62715332T>G c.563T>G c.(562-564)tTt>tGt p.F188C COADREAD 12 62749171 62749171 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:62749171C>T c.830C>T c.(829-831)tCg>tTg p.S277L COADREAD 12 62777731 62777732 + Frame_Shift_Ins INS - - A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr12:62777731_62777732insA c.1200_1201insA c.(1201-1203)aaafs p.K401fs COADREAD 12 62777737 62777737 + Missense_Mutation SNP A A C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr12:62777737A>C c.1206A>C c.(1204-1206)aaA>aaC p.K402N COADREAD 12 62777896 62777896 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:62777896G>A c.1286G>A c.(1285-1287)cGa>cAa p.R429Q COADREAD 12 62783576 62783576 + Splice_Site SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:62783576G>T c.e14-1 COADREAD 12 62785022 62785022 + Silent SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr12:62785022T>C c.2046T>C c.(2044-2046)gaT>gaC p.D682D COADREAD 12 62785027 62785027 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:62785027T>G c.2051T>G c.(2050-2052)gTt>gGt p.V684G COADREAD 12 62786926 62786926 + Missense_Mutation SNP T T G TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr12:62786926T>G c.2514T>G c.(2512-2514)ttT>ttG p.F838L COADREAD 12 62790089 62790089 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:62790089C>T c.2585C>T c.(2584-2586)tCg>tTg p.S862L COADREAD 12 62790140 62790140 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:62790140C>T c.2636C>T c.(2635-2637)gCt>gTt p.A879V COADREAD 12 62794998 62794998 + Frame_Shift_Del DEL A A - TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:62794998delA c.2706delA c.(2704-2706)ggafs p.G902fs COADREAD 12 62798030 62798030 + Frame_Shift_Del DEL T T - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:62798030delT c.2821delT c.(2821-2823)tttfs p.F942fs COADREAD 12 62798063 62798063 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr12:62798063T>C c.2854T>C c.(2854-2856)Tca>Cca p.S952P ESCA 12 62749183 62749183 + Missense_Mutation SNP G G A TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 g.chr12:62749183G>A c.842G>A c.(841-843)aGa>aAa p.R281K ESCA 12 62783638 62783638 + Nonsense_Mutation SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr12:62783638A>T c.1714A>T c.(1714-1716)Aga>Tga p.R572* GBM 12 62777954 62777954 + Silent SNP T T C TCGA-14-0786-01B-01D-1492-08 TCGA-14-0786-10A-01D-1492-08 g.chr12:62777954T>C c.1344T>C c.(1342-1344)tgT>tgC p.C448C GBM 12 62778015 62778015 + Missense_Mutation SNP C C G TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr12:62778015C>G c.1405C>G c.(1405-1407)Ccc>Gcc p.P469A GBM 12 62785633 62785634 + Frame_Shift_Ins INS - - A TCGA-06-5418-01A-01D-1486-08 TCGA-06-5418-10A-01D-1486-08 g.chr12:62785633_62785634insA c.2271_2272insA c.(2272-2274)aaafs p.K758fs GBMLGG 12 62688032 62688032 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62688032G>T c.162G>T c.(160-162)caG>caT p.Q54H GBMLGG 12 62715345 62715345 + Silent SNP T T C TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:62715345T>C c.576T>C c.(574-576)aaT>aaC p.N192N GBMLGG 12 62749132 62749132 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62749132G>A c.791G>A c.(790-792)tGt>tAt p.C264Y GBMLGG 12 62777762 62777762 + Missense_Mutation SNP G G A TCGA-FG-A70Z-01A-12D-A33T-08 TCGA-FG-A70Z-10A-01D-A33W-08 g.chr12:62777762G>A c.1231G>A c.(1231-1233)Gat>Aat p.D411N GBMLGG 12 62777954 62777954 + Silent SNP T T C TCGA-14-0786-01B-01D-1492-08 TCGA-14-0786-10A-01D-1492-08 g.chr12:62777954T>C c.1344T>C c.(1342-1344)tgT>tgC p.C448C GBMLGG 12 62778015 62778015 + Missense_Mutation SNP C C G TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr12:62778015C>G c.1405C>G c.(1405-1407)Ccc>Gcc p.P469A GBMLGG 12 62778055 62778055 + Missense_Mutation SNP G G C TCGA-FG-A70Z-01A-12D-A33T-08 TCGA-FG-A70Z-10A-01D-A33W-08 g.chr12:62778055G>C c.1445G>C c.(1444-1446)aGa>aCa p.R482T GBMLGG 12 62783719 62783719 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62783719C>T c.1795C>T c.(1795-1797)Cga>Tga p.R599* GBMLGG 12 62785633 62785634 + Frame_Shift_Ins INS - - A TCGA-06-5418-01A-01D-1486-08 TCGA-06-5418-10A-01D-1486-08 g.chr12:62785633_62785634insA c.2271_2272insA c.(2272-2274)aaafs p.K758fs GBMLGG 12 62786882 62786882 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62786882T>G c.2470T>G c.(2470-2472)Tta>Gta p.L824V HNSC 12 62708577 62708577 + Missense_Mutation SNP G G C TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr12:62708577G>C c.355G>C c.(355-357)Gaa>Caa p.E119Q HNSC 12 62708688 62708688 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr12:62708688G>A c.466G>A c.(466-468)Gac>Aac p.D156N HNSC 12 62715321 62715321 + Missense_Mutation SNP G G C TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 g.chr12:62715321G>C c.552G>C c.(550-552)atG>atC p.M184I HNSC 12 62715344 62715344 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 g.chr12:62715344A>G c.575A>G c.(574-576)aAt>aGt p.N192S HNSC 12 62715352 62715352 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr12:62715352G>T c.583G>T c.(583-585)Gac>Tac p.D195Y HNSC 12 62749159 62749159 + Missense_Mutation SNP A A G TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 g.chr12:62749159A>G c.818A>G c.(817-819)aAc>aGc p.N273S HNSC 12 62784990 62784990 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:62784990C>T c.2014C>T c.(2014-2016)Ccc>Tcc p.P672S HNSC 12 62784991 62784991 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:62784991C>T c.2015C>T c.(2014-2016)cCc>cTc p.P672L HNSC 12 62785134 62785134 + Missense_Mutation SNP G G C TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 g.chr12:62785134G>C c.2158G>C c.(2158-2160)Ggc>Cgc p.G720R HNSC 12 62786084 62786084 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:62786084A>G c.2337A>G c.(2335-2337)aaA>aaG p.K779K HNSC 12 62798030 62798030 + Frame_Shift_Del DEL T T - TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr12:62798030delT c.2821delT c.(2821-2823)tttfs p.F942fs KIPAN 12 62708660 62708662 + In_Frame_Del DEL TGT TGT - TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 g.chr12:62708660_62708662delTGT c.438_440delTGT c.(436-441)aatgtt>aat p.V148del KIPAN 12 62777661 62777667 + Frame_Shift_Del DEL AGCAGCA AGCAGCA - TCGA-P4-AAVL-01A-11D-A42J-10 TCGA-P4-AAVL-11A-11D-A42M-10 g.chr12:62777661_62777667delAGCAGCA c.1130_1136delAGCAGCA c.(1129-1137)cagcagcaafs p.QQQ377fs KIPAN 12 62777762 62777762 + Missense_Mutation SNP G G T TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr12:62777762G>T c.1231G>T c.(1231-1233)Gat>Tat p.D411Y KIPAN 12 62777931 62777931 + Missense_Mutation SNP C C A TCGA-CJ-4871-01A-01D-1373-10 TCGA-CJ-4871-11A-01D-1373-10 g.chr12:62777931C>A c.1321C>A c.(1321-1323)Ctt>Att p.L441I KIPAN 12 62790158 62790158 + Missense_Mutation SNP G G C TCGA-CW-5583-01A-02D-1534-10 TCGA-CW-5583-11A-01D-1535-10 g.chr12:62790158G>C c.2654G>C c.(2653-2655)gGa>gCa p.G885A KIPAN 12 62795034 62795034 + Silent SNP T T A TCGA-B1-5398-01A-02D-1589-08 TCGA-B1-5398-10A-01D-1589-08 g.chr12:62795034T>A c.2742T>A c.(2740-2742)acT>acA p.T914T KIPAN 12 62798002 62798002 + Missense_Mutation SNP G G C TCGA-B0-5080-01A-01D-1501-10 TCGA-B0-5080-11A-01D-1501-10 g.chr12:62798002G>C c.2793G>C c.(2791-2793)caG>caC p.Q931H KIRC 12 62708660 62708662 + In_Frame_Del DEL TGT TGT - TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 g.chr12:62708660_62708662delTGT c.438_440delTGT c.(436-441)aatgtt>aat p.V148del KIRC 12 62777762 62777762 + Missense_Mutation SNP G G T TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr12:62777762G>T c.1231G>T c.(1231-1233)Gat>Tat p.D411Y KIRC 12 62777931 62777931 + Missense_Mutation SNP C C A TCGA-CJ-4871-01A-01D-1373-10 TCGA-CJ-4871-11A-01D-1373-10 g.chr12:62777931C>A c.1321C>A c.(1321-1323)Ctt>Att p.L441I KIRC 12 62790158 62790158 + Missense_Mutation SNP G G C TCGA-CW-5583-01A-02D-1534-10 TCGA-CW-5583-11A-01D-1535-10 g.chr12:62790158G>C c.2654G>C c.(2653-2655)gGa>gCa p.G885A KIRC 12 62798002 62798002 + Missense_Mutation SNP G G C TCGA-B0-5080-01A-01D-1501-10 TCGA-B0-5080-11A-01D-1501-10 g.chr12:62798002G>C c.2793G>C c.(2791-2793)caG>caC p.Q931H KIRP 12 62777661 62777667 + Frame_Shift_Del DEL AGCAGCA AGCAGCA - TCGA-P4-AAVL-01A-11D-A42J-10 TCGA-P4-AAVL-11A-11D-A42M-10 g.chr12:62777661_62777667delAGCAGCA c.1130_1136delAGCAGCA c.(1129-1137)cagcagcaafs p.QQQ377fs KIRP 12 62795034 62795034 + Silent SNP T T A TCGA-B1-5398-01A-02D-1589-08 TCGA-B1-5398-10A-01D-1589-08 g.chr12:62795034T>A c.2742T>A c.(2740-2742)acT>acA p.T914T LGG 12 62688032 62688032 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62688032G>T c.162G>T c.(160-162)caG>caT p.Q54H LGG 12 62715345 62715345 + Silent SNP T T C TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:62715345T>C c.576T>C c.(574-576)aaT>aaC p.N192N LGG 12 62749132 62749132 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62749132G>A c.791G>A c.(790-792)tGt>tAt p.C264Y LGG 12 62777762 62777762 + Missense_Mutation SNP G G A TCGA-FG-A70Z-01A-12D-A33T-08 TCGA-FG-A70Z-10A-01D-A33W-08 g.chr12:62777762G>A c.1231G>A c.(1231-1233)Gat>Aat p.D411N LGG 12 62778055 62778055 + Missense_Mutation SNP G G C TCGA-FG-A70Z-01A-12D-A33T-08 TCGA-FG-A70Z-10A-01D-A33W-08 g.chr12:62778055G>C c.1445G>C c.(1444-1446)aGa>aCa p.R482T LGG 12 62783719 62783719 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62783719C>T c.1795C>T c.(1795-1797)Cga>Tga p.R599* LGG 12 62786882 62786882 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:62786882T>G c.2470T>G c.(2470-2472)Tta>Gta p.L824V LIHC 12 62696641 62696641 + Silent SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr12:62696641T>C c.288T>C c.(286-288)ggT>ggC p.G96G LIHC 12 62775287 62775287 + Missense_Mutation SNP C C T TCGA-BC-A216-01A-11D-A152-10 TCGA-BC-A216-11A-11D-A152-10 g.chr12:62775287C>T c.932C>T c.(931-933)cCt>cTt p.P311L LIHC 12 62783254 62783254 + Missense_Mutation SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr12:62783254G>T c.1517G>T c.(1516-1518)tGt>tTt p.C506F LIHC 12 62785098 62785098 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr12:62785098delA c.2122delA c.(2122-2124)aaafs p.K709fs LIHC 12 62785110 62785110 + Missense_Mutation SNP T T C TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr12:62785110T>C c.2134T>C c.(2134-2136)Ttt>Ctt p.F712L LIHC 12 62790141 62790141 + Silent SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr12:62790141T>C c.2637T>C c.(2635-2637)gcT>gcC p.A879A LUAD 12 62708623 62708623 + Missense_Mutation SNP C C T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr12:62708623C>T c.401C>T c.(400-402)aCa>aTa p.T134I LUAD 12 62715334 62715334 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr12:62715334G>C c.565G>C c.(565-567)Gaa>Caa p.E189Q LUAD 12 62749183 62749183 + Missense_Mutation SNP G G C TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr12:62749183G>C c.842G>C c.(841-843)aGa>aCa p.R281T LUAD 12 62777985 62777985 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr12:62777985G>T c.1375G>T c.(1375-1377)Gat>Tat p.D459Y LUAD 12 62778050 62778050 + Silent SNP A A G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr12:62778050A>G c.1440A>G c.(1438-1440)ttA>ttG p.L480L LUAD 12 62783402 62783402 + Silent SNP A A T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr12:62783402A>T c.1575A>T c.(1573-1575)atA>atT p.I525I LUAD 12 62783422 62783422 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr12:62783422G>A c.1595G>A c.(1594-1596)aGa>aAa p.R532K LUAD 12 62783587 62783587 + Missense_Mutation SNP A A G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr12:62783587A>G c.1663A>G c.(1663-1665)Aac>Gac p.N555D LUAD 12 62783684 62783684 + Nonsense_Mutation SNP C C A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 g.chr12:62783684C>A c.1760C>A c.(1759-1761)tCa>tAa p.S587* LUAD 12 62784975 62784975 + Nonsense_Mutation SNP C C T TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr12:62784975C>T c.1999C>T c.(1999-2001)Cag>Tag p.Q667* LUAD 12 62785065 62785065 + Missense_Mutation SNP G G A TCGA-05-4422-01A-01D-1265-08 TCGA-05-4422-10A-01D-1265-08 g.chr12:62785065G>A c.2089G>A c.(2089-2091)Gag>Aag p.E697K LUAD 12 62795017 62795017 + Missense_Mutation SNP G G T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chr12:62795017G>T c.2725G>T c.(2725-2727)Gac>Tac p.D909Y LUSC 12 62708619 62708619 + Missense_Mutation SNP C C G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr12:62708619C>G c.397C>G c.(397-399)Ctc>Gtc p.L133V LUSC 12 62749201 62749201 + Missense_Mutation SNP G G T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr12:62749201G>T c.860G>T c.(859-861)gGc>gTc p.G287V LUSC 12 62785030 62785030 + Missense_Mutation SNP G G A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr12:62785030G>A c.2054G>A c.(2053-2055)gGa>gAa p.G685E LUSC 12 62786902 62786902 + Silent SNP A A T TCGA-43-6647-01A-11D-1817-08 TCGA-43-6647-11A-01D-1817-08 g.chr12:62786902A>T c.2490A>T c.(2488-2490)gtA>gtT p.V830V LUSC 12 62790074 62790074 + Splice_Site SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr12:62790074G>A c.e20-1 OV 12 62708592 62708592 + Missense_Mutation SNP G G T TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 g.chr12:62708592G>T c.370G>T c.(370-372)Gta>Tta p.V124L OV 12 62749122 62749122 + Missense_Mutation SNP T T C TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 g.chr12:62749122T>C c.781T>C c.(781-783)Tca>Cca p.S261P OV 12 62785021 62785021 + Missense_Mutation SNP A A C TCGA-13-1496-01A-01W-0545-08 TCGA-13-1496-10A-01W-0545-08 g.chr12:62785021A>C c.2045A>C c.(2044-2046)gAt>gCt p.D682A PAAD 12 62696619 62696619 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:62696619A>G c.266A>G c.(265-267)tAc>tGc p.Y89C PAAD 12 62775384 62775384 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:62775384C>T c.1029C>T c.(1027-1029)gcC>gcT p.A343A PAAD 12 62777738 62777738 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:62777738C>T c.1207C>T c.(1207-1209)Cca>Tca p.P403S PCPG 12 62749120 62749120 + Missense_Mutation SNP A A G TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 g.chr12:62749120A>G c.779A>G c.(778-780)aAc>aGc p.N260S PCPG 12 62785104 62785104 + Nonsense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 g.chr12:62785104C>T c.2128C>T c.(2128-2130)Cga>Tga p.R710* PRAD 12 62688039 62688039 + Missense_Mutation SNP G G A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 g.chr12:62688039G>A c.169G>A c.(169-171)Gat>Aat p.D57N PRAD 12 62749197 62749197 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:62749197C>T c.856C>T c.(856-858)Cca>Tca p.P286S PRAD 12 62777656 62777656 + Silent SNP A A G TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 g.chr12:62777656A>G c.1125A>G c.(1123-1125)ggA>ggG p.G375G PRAD 12 62777707 62777707 + Missense_Mutation SNP A A C TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 g.chr12:62777707A>C c.1176A>C c.(1174-1176)ttA>ttC p.L392F PRAD 12 62784708 62784708 + Missense_Mutation SNP C C A TCGA-CH-5768-01A-11D-1576-08 TCGA-CH-5768-11A-01D-1576-08 g.chr12:62784708C>A c.1909C>A c.(1909-1911)Caa>Aaa p.Q637K PRAD 12 62785633 62785634 + Frame_Shift_Ins INS - - A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 g.chr12:62785633_62785634insA c.2271_2272insA c.(2272-2274)aaafs p.K758fs READ 12 62749171 62749171 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:62749171C>T c.830C>T c.(829-831)tCg>tTg p.S277L READ 12 62790089 62790089 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:62790089C>T c.2585C>T c.(2584-2586)tCg>tTg p.S862L SKCM 12 62777950 62777950 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:62777950T>C c.1340T>C c.(1339-1341)gTt>gCt p.V447A SKCM 12 62783684 62783684 + Nonsense_Mutation SNP C C A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr12:62783684C>A c.1760C>A c.(1759-1761)tCa>tAa p.S587* SKCM 12 62784970 62784970 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr12:62784970C>T c.1994C>T c.(1993-1995)tCc>tTc p.S665F SKCM 12 62790107 62790107 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:62790107C>T c.2603C>T c.(2602-2604)cCa>cTa p.P868L SKCM 12 62797974 62797974 + Splice_Site SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr12:62797974C>T c.2765C>T c.(2764-2766)tCc>tTc p.S922F SKCM 12 62798036 62798036 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:62798036C>T c.2827C>T c.(2827-2829)Cct>Tct p.P943S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 62785083 62785083 single base substitution C T downstream_gene_variant BLCA-CN 12 62785083 62785083 single base substitution C T stop_gained Q674* 2020C>T BLCA-CN 12 62785083 62785083 single base substitution C T stop_gained Q678* 2032C>T BLCA-CN 12 62785083 62785083 single base substitution C T stop_gained Q703* 2107C>T BLCA-CN 12 62785083 62785083 single base substitution C T upstream_gene_variant BLCA-CN 12 62798120 62798120 single base substitution G C 3_prime_UTR_variant BLCA-CN 12 62798120 62798120 single base substitution G C exon_variant BLCA-CN 12 62798120 62798120 single base substitution G C intron_variant BLCA-CN 12 62798120 62798120 single base substitution G C missense_variant D942H 2824G>C BLCA-CN 12 62798120 62798120 single base substitution G C missense_variant D946H 2836G>C BLCA-CN 12 62798120 62798120 single base substitution G C missense_variant D971H 2911G>C BLCA-US 12 62783261 62783261 single base substitution A G exon_variant BLCA-US 12 62783261 62783261 single base substitution A G synonymous_variant A479A 1437A>G BLCA-US 12 62783261 62783261 single base substitution A G synonymous_variant A483A 1449A>G BLCA-US 12 62783261 62783261 single base substitution A G synonymous_variant A508A 1524A>G BLCA-US 12 62783261 62783261 single base substitution A G upstream_gene_variant BLCA-US 12 62785202 62785202 single base substitution G A downstream_gene_variant BLCA-US 12 62785202 62785202 single base substitution G A synonymous_variant R713R 2139G>A BLCA-US 12 62785202 62785202 single base substitution G A synonymous_variant R717R 2151G>A BLCA-US 12 62785202 62785202 single base substitution G A synonymous_variant R742R 2226G>A BLCA-US 12 62785202 62785202 single base substitution G A upstream_gene_variant BLCA-US 12 62790135 62790135 single base substitution G C exon_variant BLCA-US 12 62790135 62790135 single base substitution G C intron_variant BLCA-US 12 62790135 62790135 single base substitution G C synonymous_variant L79L 237G>C BLCA-US 12 62790135 62790135 single base substitution G C synonymous_variant L848L 2544G>C BLCA-US 12 62790135 62790135 single base substitution G C synonymous_variant L852L 2556G>C BLCA-US 12 62790135 62790135 single base substitution G C synonymous_variant L877L 2631G>C BLCA-US 12 62790135 62790135 single base substitution G C upstream_gene_variant BLCA-US 12 62798096 62798096 single base substitution G A 3_prime_UTR_variant BLCA-US 12 62798096 62798096 single base substitution G A exon_variant BLCA-US 12 62798096 62798096 single base substitution G A intron_variant BLCA-US 12 62798096 62798096 single base substitution G A missense_variant E934K 2800G>A BLCA-US 12 62798096 62798096 single base substitution G A missense_variant E938K 2812G>A BLCA-US 12 62798096 62798096 single base substitution G A missense_variant E963K 2887G>A BRCA-EU 12 62649284 62649284 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 62649338 62649338 single base substitution A G upstream_gene_variant BRCA-EU 12 62649816 62649816 single base substitution G A upstream_gene_variant BRCA-EU 12 62650364 62650364 single base substitution T A upstream_gene_variant BRCA-EU 12 62650365 62650365 single base substitution A G upstream_gene_variant BRCA-EU 12 62650401 62650401 single base substitution G C upstream_gene_variant BRCA-EU 12 62652638 62652638 single base substitution A G upstream_gene_variant BRCA-EU 12 62653366 62653366 single base substitution C T upstream_gene_variant BRCA-EU 12 62653704 62653704 single base substitution C T upstream_gene_variant BRCA-EU 12 62653925 62653925 single base substitution C T upstream_gene_variant BRCA-EU 12 62654121 62654121 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 62654121 62654121 single base substitution G T upstream_gene_variant BRCA-EU 12 62656176 62656176 single base substitution C T intron_variant BRCA-EU 12 62657809 62657809 single base substitution G A intron_variant BRCA-EU 12 62658811 62658811 single base substitution A T intron_variant BRCA-EU 12 62659250 62659250 single base substitution G C intron_variant BRCA-EU 12 62660023 62660023 single base substitution A G intron_variant BRCA-EU 12 62662564 62662564 single base substitution C T intron_variant BRCA-EU 12 62663040 62663040 deletion of <=200bp A - intron_variant BRCA-EU 12 62663827 62663827 deletion of <=200bp T - intron_variant BRCA-EU 12 62664983 62664983 insertion of <=200bp - A intron_variant BRCA-EU 12 62667077 62667077 single base substitution A T intron_variant BRCA-EU 12 62667567 62667567 single base substitution C G intron_variant BRCA-EU 12 62667567 62667567 single base substitution C G upstream_gene_variant BRCA-EU 12 62669315 62669315 single base substitution G C intron_variant BRCA-EU 12 62669315 62669315 single base substitution G C upstream_gene_variant BRCA-EU 12 62669875 62669875 single base substitution T A intron_variant BRCA-EU 12 62669875 62669875 single base substitution T A upstream_gene_variant BRCA-EU 12 62670280 62670280 single base substitution C T intron_variant BRCA-EU 12 62670280 62670280 single base substitution C T upstream_gene_variant BRCA-EU 12 62670715 62670715 single base substitution T G intron_variant BRCA-EU 12 62670715 62670715 single base substitution T G upstream_gene_variant BRCA-EU 12 62671481 62671481 single base substitution A G intron_variant BRCA-EU 12 62671481 62671481 single base substitution A G upstream_gene_variant BRCA-EU 12 62671611 62671611 single base substitution A G intron_variant BRCA-EU 12 62671611 62671611 single base substitution A G upstream_gene_variant BRCA-EU 12 62672100 62672100 single base substitution T A intron_variant BRCA-EU 12 62672100 62672100 single base substitution T A upstream_gene_variant BRCA-EU 12 62672141 62672141 single base substitution T C intron_variant BRCA-EU 12 62672141 62672141 single base substitution T C upstream_gene_variant BRCA-EU 12 62673486 62673489 deletion of <=200bp TAAG - intron_variant BRCA-EU 12 62673547 62673547 single base substitution A G intron_variant BRCA-EU 12 62676462 62676462 single base substitution G A intron_variant BRCA-EU 12 62677204 62677204 deletion of <=200bp A - intron_variant BRCA-EU 12 62677204 62677204 insertion of <=200bp - A intron_variant BRCA-EU 12 62677706 62677706 single base substitution G C intron_variant BRCA-EU 12 62677793 62677793 insertion of <=200bp - A intron_variant BRCA-EU 12 62677968 62677968 single base substitution C T intron_variant BRCA-EU 12 62679063 62679063 single base substitution G T intron_variant BRCA-EU 12 62679416 62679416 insertion of <=200bp - GT intron_variant BRCA-EU 12 62679551 62679551 single base substitution A G intron_variant BRCA-EU 12 62682024 62682024 single base substitution C T intron_variant BRCA-EU 12 62687242 62687242 single base substitution A G intron_variant BRCA-EU 12 62688905 62688905 single base substitution G C downstream_gene_variant BRCA-EU 12 62688905 62688905 single base substitution G C intron_variant BRCA-EU 12 62688909 62688909 single base substitution G T downstream_gene_variant BRCA-EU 12 62688909 62688909 single base substitution G T intron_variant BRCA-EU 12 62688917 62688917 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 62688917 62688917 deletion of <=200bp C - intron_variant BRCA-EU 12 62688917 62688917 insertion of <=200bp - C downstream_gene_variant BRCA-EU 12 62688917 62688917 insertion of <=200bp - C intron_variant BRCA-EU 12 62691321 62691321 single base substitution G T downstream_gene_variant BRCA-EU 12 62691321 62691321 single base substitution G T intron_variant BRCA-EU 12 62692175 62692175 single base substitution C T downstream_gene_variant BRCA-EU 12 62692175 62692175 single base substitution C T intron_variant BRCA-EU 12 62694598 62694598 single base substitution G A intron_variant BRCA-EU 12 62694598 62694598 single base substitution G A upstream_gene_variant BRCA-EU 12 62697770 62697770 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 62697770 62697770 deletion of <=200bp A - intron_variant BRCA-EU 12 62697770 62697770 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 62700090 62700090 single base substitution G A downstream_gene_variant BRCA-EU 12 62700090 62700090 single base substitution G A intron_variant BRCA-EU 12 62700361 62700361 single base substitution A G downstream_gene_variant BRCA-EU 12 62700361 62700361 single base substitution A G intron_variant BRCA-EU 12 62703111 62703111 single base substitution G C downstream_gene_variant BRCA-EU 12 62703111 62703111 single base substitution G C intron_variant BRCA-EU 12 62703665 62703665 single base substitution A G downstream_gene_variant BRCA-EU 12 62703665 62703665 single base substitution A G intron_variant BRCA-EU 12 62704981 62704981 single base substitution A G intron_variant BRCA-EU 12 62705390 62705390 single base substitution C G intron_variant BRCA-EU 12 62708353 62708353 single base substitution T A intron_variant BRCA-EU 12 62709922 62709922 single base substitution C T downstream_gene_variant BRCA-EU 12 62709922 62709922 single base substitution C T intron_variant BRCA-EU 12 62710148 62710148 single base substitution T C downstream_gene_variant BRCA-EU 12 62710148 62710148 single base substitution T C intron_variant BRCA-EU 12 62711582 62711582 single base substitution A G downstream_gene_variant BRCA-EU 12 62711582 62711582 single base substitution A G intron_variant BRCA-EU 12 62711582 62711582 single base substitution A G upstream_gene_variant BRCA-EU 12 62713544 62713544 single base substitution G C downstream_gene_variant BRCA-EU 12 62713544 62713544 single base substitution G C intron_variant BRCA-EU 12 62713544 62713544 single base substitution G C upstream_gene_variant BRCA-EU 12 62716200 62716200 single base substitution C T downstream_gene_variant BRCA-EU 12 62716200 62716200 single base substitution C T intron_variant BRCA-EU 12 62716228 62716228 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 62716228 62716228 deletion of <=200bp A - intron_variant BRCA-EU 12 62717712 62717712 single base substitution C G downstream_gene_variant BRCA-EU 12 62717712 62717712 single base substitution C G intron_variant BRCA-EU 12 62718027 62718027 single base substitution T C downstream_gene_variant BRCA-EU 12 62718027 62718027 single base substitution T C intron_variant BRCA-EU 12 62718550 62718550 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 62718550 62718550 insertion of <=200bp - T intron_variant BRCA-EU 12 62718962 62718962 single base substitution G C downstream_gene_variant BRCA-EU 12 62718962 62718962 single base substitution G C intron_variant BRCA-EU 12 62718992 62718992 single base substitution A G downstream_gene_variant BRCA-EU 12 62718992 62718992 single base substitution A G intron_variant BRCA-EU 12 62719292 62719292 insertion of <=200bp - AC downstream_gene_variant BRCA-EU 12 62719292 62719292 insertion of <=200bp - AC intron_variant BRCA-EU 12 62719955 62719955 single base substitution G C downstream_gene_variant BRCA-EU 12 62719955 62719955 single base substitution G C intron_variant BRCA-EU 12 62719965 62719965 single base substitution C T downstream_gene_variant BRCA-EU 12 62719965 62719965 single base substitution C T intron_variant BRCA-EU 12 62720732 62720732 single base substitution G A downstream_gene_variant BRCA-EU 12 62720732 62720732 single base substitution G A intron_variant BRCA-EU 12 62721336 62721336 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 62721336 62721336 deletion of <=200bp A - intron_variant BRCA-EU 12 62722751 62722751 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 62722751 62722751 deletion of <=200bp A - intron_variant BRCA-EU 12 62723242 62723242 single base substitution G C downstream_gene_variant BRCA-EU 12 62723242 62723242 single base substitution G C intron_variant BRCA-EU 12 62725560 62725560 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 62725560 62725560 insertion of <=200bp - A intron_variant BRCA-EU 12 62726383 62726383 single base substitution G C downstream_gene_variant BRCA-EU 12 62726383 62726383 single base substitution G C intron_variant BRCA-EU 12 62726803 62726803 single base substitution C T intron_variant BRCA-EU 12 62728926 62728926 deletion of <=200bp T - intron_variant BRCA-EU 12 62729604 62729604 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 62729604 62729604 single base substitution A T downstream_gene_variant BRCA-EU 12 62729604 62729604 single base substitution A T intron_variant BRCA-EU 12 62730904 62730904 single base substitution C G downstream_gene_variant BRCA-EU 12 62730904 62730904 single base substitution C G intron_variant BRCA-EU 12 62732419 62732419 single base substitution A G downstream_gene_variant BRCA-EU 12 62732419 62732419 single base substitution A G intron_variant BRCA-EU 12 62734519 62734519 single base substitution G A downstream_gene_variant BRCA-EU 12 62734519 62734519 single base substitution G A intron_variant BRCA-EU 12 62735352 62735352 single base substitution C G downstream_gene_variant BRCA-EU 12 62735352 62735352 single base substitution C G intron_variant BRCA-EU 12 62740735 62740735 single base substitution G A intron_variant BRCA-EU 12 62740850 62740850 single base substitution T C intron_variant BRCA-EU 12 62740991 62740991 single base substitution T C intron_variant BRCA-EU 12 62742770 62742770 single base substitution G T intron_variant BRCA-EU 12 62742939 62742957 deletion of <=200bp TTCATAATTAATTTAAAAA - intron_variant BRCA-EU 12 62745533 62745533 single base substitution T G intron_variant BRCA-EU 12 62745533 62745533 single base substitution T G upstream_gene_variant BRCA-EU 12 62746673 62746677 deletion of <=200bp TAATA - intron_variant BRCA-EU 12 62746673 62746677 deletion of <=200bp TAATA - upstream_gene_variant BRCA-EU 12 62746860 62746860 insertion of <=200bp - T intron_variant BRCA-EU 12 62746860 62746860 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 62747248 62747248 single base substitution T C intron_variant BRCA-EU 12 62747248 62747248 single base substitution T C upstream_gene_variant BRCA-EU 12 62747252 62747253 deletion of <=200bp GT - intron_variant BRCA-EU 12 62747252 62747253 deletion of <=200bp GT - upstream_gene_variant BRCA-EU 12 62747310 62747310 single base substitution G C intron_variant BRCA-EU 12 62747310 62747310 single base substitution G C upstream_gene_variant BRCA-EU 12 62747918 62747918 insertion of <=200bp - GT intron_variant BRCA-EU 12 62747918 62747918 insertion of <=200bp - GT upstream_gene_variant BRCA-EU 12 62749005 62749005 single base substitution G T intron_variant BRCA-EU 12 62749005 62749005 single base substitution G T upstream_gene_variant BRCA-EU 12 62750538 62750538 single base substitution A C downstream_gene_variant BRCA-EU 12 62750538 62750538 single base substitution A C intron_variant BRCA-EU 12 62750930 62750930 single base substitution G A downstream_gene_variant BRCA-EU 12 62750930 62750930 single base substitution G A intron_variant BRCA-EU 12 62751242 62751242 single base substitution A T downstream_gene_variant BRCA-EU 12 62751242 62751242 single base substitution A T intron_variant BRCA-EU 12 62751301 62751301 single base substitution C T downstream_gene_variant BRCA-EU 12 62751301 62751301 single base substitution C T intron_variant BRCA-EU 12 62752008 62752008 single base substitution G C downstream_gene_variant BRCA-EU 12 62752008 62752008 single base substitution G C intron_variant BRCA-EU 12 62752210 62752210 single base substitution G C downstream_gene_variant BRCA-EU 12 62752210 62752210 single base substitution G C intron_variant BRCA-EU 12 62752832 62752832 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 62752832 62752832 deletion of <=200bp T - intron_variant BRCA-EU 12 62753378 62753378 single base substitution A G downstream_gene_variant BRCA-EU 12 62753378 62753378 single base substitution A G intron_variant BRCA-EU 12 62755411 62755411 insertion of <=200bp - T intron_variant BRCA-EU 12 62756633 62756633 single base substitution G A intron_variant BRCA-EU 12 62758119 62758119 single base substitution A G intron_variant BRCA-EU 12 62758822 62758822 single base substitution C G intron_variant BRCA-EU 12 62759549 62759549 single base substitution T C intron_variant BRCA-EU 12 62761933 62761933 single base substitution G C intron_variant BRCA-EU 12 62762492 62762492 single base substitution G C intron_variant BRCA-EU 12 62762516 62762516 single base substitution C T intron_variant BRCA-EU 12 62762593 62762593 single base substitution G T intron_variant BRCA-EU 12 62763085 62763085 single base substitution G C intron_variant BRCA-EU 12 62767307 62767307 single base substitution G T intron_variant BRCA-EU 12 62767502 62767502 single base substitution G T intron_variant BRCA-EU 12 62767909 62767909 insertion of <=200bp - A intron_variant BRCA-EU 12 62768831 62768831 single base substitution G T intron_variant BRCA-EU 12 62769575 62769575 single base substitution A T intron_variant BRCA-EU 12 62770737 62770737 deletion of <=200bp T - intron_variant BRCA-EU 12 62771583 62771583 single base substitution C T intron_variant BRCA-EU 12 62772705 62772705 single base substitution A G intron_variant BRCA-EU 12 62773218 62773218 single base substitution G A intron_variant BRCA-EU 12 62773689 62773689 single base substitution G A intron_variant BRCA-EU 12 62774042 62774042 single base substitution A G intron_variant BRCA-EU 12 62775316 62775316 single base substitution A G exon_variant BRCA-EU 12 62775316 62775316 single base substitution A G missense_variant K292E 874A>G BRCA-EU 12 62775316 62775316 single base substitution A G missense_variant K296E 886A>G BRCA-EU 12 62775316 62775316 single base substitution A G missense_variant K321E 961A>G BRCA-EU 12 62775871 62775871 single base substitution G A downstream_gene_variant BRCA-EU 12 62775871 62775871 single base substitution G A intron_variant BRCA-EU 12 62776028 62776028 single base substitution T G downstream_gene_variant BRCA-EU 12 62776028 62776028 single base substitution T G intron_variant BRCA-EU 12 62776074 62776074 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 62776074 62776074 deletion of <=200bp A - intron_variant BRCA-EU 12 62781380 62781380 single base substitution A T intron_variant BRCA-EU 12 62781380 62781380 single base substitution A T upstream_gene_variant BRCA-EU 12 62784092 62784092 single base substitution C A downstream_gene_variant BRCA-EU 12 62784092 62784092 single base substitution C A intron_variant BRCA-EU 12 62784092 62784092 single base substitution C A upstream_gene_variant BRCA-EU 12 62784672 62784672 single base substitution G A downstream_gene_variant BRCA-EU 12 62784672 62784672 single base substitution G A missense_variant E596K 1786G>A BRCA-EU 12 62784672 62784672 single base substitution G A missense_variant E600K 1798G>A BRCA-EU 12 62784672 62784672 single base substitution G A missense_variant E625K 1873G>A BRCA-EU 12 62784672 62784672 single base substitution G A upstream_gene_variant BRCA-EU 12 62785950 62785950 single base substitution G C downstream_gene_variant BRCA-EU 12 62785950 62785950 single base substitution G C intron_variant BRCA-EU 12 62785950 62785950 single base substitution G C upstream_gene_variant BRCA-EU 12 62786585 62786585 single base substitution G T downstream_gene_variant BRCA-EU 12 62786585 62786585 single base substitution G T intron_variant BRCA-EU 12 62786585 62786585 single base substitution G T upstream_gene_variant BRCA-EU 12 62786892 62786892 single base substitution T C downstream_gene_variant BRCA-EU 12 62786892 62786892 single base substitution T C exon_variant BRCA-EU 12 62786892 62786892 single base substitution T C missense_variant L29P 86T>C BRCA-EU 12 62786892 62786892 single base substitution T C missense_variant L798P 2393T>C BRCA-EU 12 62786892 62786892 single base substitution T C missense_variant L802P 2405T>C BRCA-EU 12 62786892 62786892 single base substitution T C missense_variant L827P 2480T>C BRCA-EU 12 62786892 62786892 single base substitution T C upstream_gene_variant BRCA-EU 12 62787678 62787678 single base substitution C T downstream_gene_variant BRCA-EU 12 62787678 62787678 single base substitution C T intron_variant BRCA-EU 12 62787678 62787678 single base substitution C T upstream_gene_variant BRCA-EU 12 62787820 62787820 single base substitution A C downstream_gene_variant BRCA-EU 12 62787820 62787820 single base substitution A C intron_variant BRCA-EU 12 62787820 62787820 single base substitution A C upstream_gene_variant BRCA-EU 12 62788215 62788215 single base substitution C T downstream_gene_variant BRCA-EU 12 62788215 62788215 single base substitution C T intron_variant BRCA-EU 12 62788215 62788215 single base substitution C T upstream_gene_variant BRCA-EU 12 62788444 62788444 single base substitution G T downstream_gene_variant BRCA-EU 12 62788444 62788444 single base substitution G T intron_variant BRCA-EU 12 62788444 62788444 single base substitution G T upstream_gene_variant BRCA-EU 12 62789599 62789599 single base substitution C T intron_variant BRCA-EU 12 62789599 62789599 single base substitution C T upstream_gene_variant BRCA-EU 12 62790366 62790366 single base substitution G C intron_variant BRCA-EU 12 62790366 62790366 single base substitution G C upstream_gene_variant BRCA-EU 12 62790807 62790807 insertion of <=200bp - G intron_variant BRCA-EU 12 62790807 62790807 insertion of <=200bp - G upstream_gene_variant BRCA-EU 12 62790813 62790813 single base substitution G C intron_variant BRCA-EU 12 62790813 62790813 single base substitution G C upstream_gene_variant BRCA-EU 12 62790814 62790814 single base substitution G A intron_variant BRCA-EU 12 62790814 62790814 single base substitution G A upstream_gene_variant BRCA-EU 12 62790823 62790823 single base substitution C G intron_variant BRCA-EU 12 62790823 62790823 single base substitution C G upstream_gene_variant BRCA-EU 12 62790830 62790831 deletion of <=200bp CT - intron_variant BRCA-EU 12 62790830 62790831 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 12 62791013 62791013 single base substitution T C intron_variant BRCA-EU 12 62791013 62791013 single base substitution T C upstream_gene_variant BRCA-EU 12 62791990 62791990 single base substitution C G intron_variant BRCA-EU 12 62791990 62791990 single base substitution C G upstream_gene_variant BRCA-EU 12 62792658 62792658 single base substitution G C intron_variant BRCA-EU 12 62792658 62792658 single base substitution G C upstream_gene_variant BRCA-EU 12 62792787 62792787 deletion of <=200bp T - intron_variant BRCA-EU 12 62792787 62792787 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 62797725 62797725 single base substitution G C intron_variant BRCA-EU 12 62797925 62797925 single base substitution C T intron_variant BRCA-EU 12 62799017 62799017 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 62799017 62799017 single base substitution A T downstream_gene_variant BRCA-EU 12 62799017 62799017 single base substitution A T intron_variant BRCA-EU 12 62800363 62800363 single base substitution C T downstream_gene_variant BRCA-EU 12 62800363 62800363 single base substitution C T intron_variant BRCA-EU 12 62801166 62801166 single base substitution A T downstream_gene_variant BRCA-EU 12 62801166 62801166 single base substitution A T intron_variant BRCA-EU 12 62803142 62803142 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 62803142 62803142 deletion of <=200bp T - intron_variant BRCA-EU 12 62804157 62804157 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 62804157 62804157 deletion of <=200bp A - intron_variant BRCA-EU 12 62804193 62804193 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 62804193 62804193 deletion of <=200bp T - intron_variant BRCA-EU 12 62806219 62806219 single base substitution G C intron_variant BRCA-EU 12 62806617 62806617 single base substitution C G intron_variant BRCA-EU 12 62806646 62806646 single base substitution A G intron_variant BRCA-EU 12 62808636 62808636 single base substitution A C intron_variant BRCA-EU 12 62810070 62810070 single base substitution T G intron_variant BRCA-EU 12 62811098 62811098 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 62812164 62812164 single base substitution G A downstream_gene_variant BRCA-EU 12 62813396 62813396 single base substitution A T downstream_gene_variant BRCA-EU 12 62814069 62814069 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 62814623 62814623 single base substitution A T downstream_gene_variant BRCA-FR 12 62649816 62649816 single base substitution G A upstream_gene_variant BRCA-FR 12 62650364 62650364 single base substitution T A upstream_gene_variant BRCA-FR 12 62650365 62650365 single base substitution A G upstream_gene_variant BRCA-FR 12 62650401 62650401 single base substitution G C upstream_gene_variant BRCA-FR 12 62653704 62653704 single base substitution C T upstream_gene_variant BRCA-FR 12 62653925 62653925 single base substitution C T upstream_gene_variant BRCA-FR 12 62659250 62659250 single base substitution G C intron_variant BRCA-FR 12 62663942 62663942 single base substitution A G intron_variant BRCA-FR 12 62670280 62670280 single base substitution C T intron_variant BRCA-FR 12 62670280 62670280 single base substitution C T upstream_gene_variant BRCA-FR 12 62677706 62677706 single base substitution G C intron_variant BRCA-FR 12 62677968 62677968 single base substitution C T intron_variant BRCA-FR 12 62679551 62679551 single base substitution A G intron_variant BRCA-FR 12 62700090 62700090 single base substitution G A downstream_gene_variant BRCA-FR 12 62700090 62700090 single base substitution G A intron_variant BRCA-FR 12 62710148 62710148 single base substitution T C downstream_gene_variant BRCA-FR 12 62710148 62710148 single base substitution T C intron_variant BRCA-FR 12 62714087 62714087 single base substitution G A intron_variant BRCA-FR 12 62714087 62714087 single base substitution G A upstream_gene_variant BRCA-FR 12 62726383 62726383 single base substitution G C downstream_gene_variant BRCA-FR 12 62726383 62726383 single base substitution G C intron_variant BRCA-FR 12 62745561 62745561 single base substitution G C intron_variant BRCA-FR 12 62745561 62745561 single base substitution G C upstream_gene_variant BRCA-FR 12 62756796 62756796 single base substitution T C intron_variant BRCA-FR 12 62757315 62757315 single base substitution G A intron_variant BRCA-FR 12 62761933 62761933 single base substitution G C intron_variant BRCA-FR 12 62762492 62762492 single base substitution G C intron_variant BRCA-FR 12 62763085 62763085 single base substitution G C intron_variant BRCA-FR 12 62767307 62767307 single base substitution G T intron_variant BRCA-FR 12 62767502 62767502 single base substitution G T intron_variant BRCA-FR 12 62769575 62769575 single base substitution A T intron_variant BRCA-FR 12 62773689 62773689 single base substitution G A intron_variant BRCA-FR 12 62774042 62774042 single base substitution A G intron_variant BRCA-FR 12 62786944 62786944 single base substitution G A downstream_gene_variant BRCA-FR 12 62786944 62786944 single base substitution G A exon_variant BRCA-FR 12 62786944 62786944 single base substitution G A missense_variant M46I 138G>A BRCA-FR 12 62786944 62786944 single base substitution G A missense_variant M815I 2445G>A BRCA-FR 12 62786944 62786944 single base substitution G A missense_variant M819I 2457G>A BRCA-FR 12 62786944 62786944 single base substitution G A missense_variant M844I 2532G>A BRCA-FR 12 62786944 62786944 single base substitution G A upstream_gene_variant BRCA-FR 12 62787224 62787224 single base substitution T C downstream_gene_variant BRCA-FR 12 62787224 62787224 single base substitution T C intron_variant BRCA-FR 12 62787224 62787224 single base substitution T C upstream_gene_variant BRCA-FR 12 62788210 62788210 single base substitution G T downstream_gene_variant BRCA-FR 12 62788210 62788210 single base substitution G T intron_variant BRCA-FR 12 62788210 62788210 single base substitution G T upstream_gene_variant BRCA-FR 12 62790366 62790366 single base substitution G C intron_variant BRCA-FR 12 62790366 62790366 single base substitution G C upstream_gene_variant BRCA-KR 12 62687976 62687976 single base substitution C A 5_prime_UTR_variant BRCA-KR 12 62687976 62687976 single base substitution C A exon_variant BRCA-KR 12 62687976 62687976 single base substitution C A missense_variant R31S 91C>A BRCA-KR 12 62687976 62687976 single base substitution C A missense_variant R36S 106C>A BRCA-UK 12 62673263 62673263 single base substitution G C intron_variant BRCA-UK 12 62759952 62759952 single base substitution C G intron_variant BRCA-US 12 62749202 62749202 single base substitution C G downstream_gene_variant BRCA-US 12 62749202 62749202 single base substitution C G exon_variant BRCA-US 12 62749202 62749202 single base substitution C G synonymous_variant G258G 774C>G BRCA-US 12 62749202 62749202 single base substitution C G synonymous_variant G262G 786C>G BRCA-US 12 62749202 62749202 single base substitution C G synonymous_variant G287G 861C>G BRCA-US 12 62749202 62749202 single base substitution C G upstream_gene_variant BRCA-US 12 62749215 62749215 single base substitution A G downstream_gene_variant BRCA-US 12 62749215 62749215 single base substitution A G exon_variant BRCA-US 12 62749215 62749215 single base substitution A G missense_variant S263G 787A>G BRCA-US 12 62749215 62749215 single base substitution A G missense_variant S267G 799A>G BRCA-US 12 62749215 62749215 single base substitution A G missense_variant S292G 874A>G BRCA-US 12 62775318 62775318 single base substitution G C exon_variant BRCA-US 12 62775318 62775318 single base substitution G C missense_variant K292N 876G>C BRCA-US 12 62775318 62775318 single base substitution G C missense_variant K296N 888G>C BRCA-US 12 62775318 62775318 single base substitution G C missense_variant K321N 963G>C BRCA-US 12 62786055 62786056 deletion of <=200bp TT - downstream_gene_variant BRCA-US 12 62786055 62786056 deletion of <=200bp TT - frameshift_variant F741 BRCA-US 12 62786055 62786056 deletion of <=200bp TT - frameshift_variant F745 BRCA-US 12 62786055 62786056 deletion of <=200bp TT - frameshift_variant F770 BRCA-US 12 62786055 62786056 deletion of <=200bp TT - upstream_gene_variant BRCA-US 12 62786084 62786084 single base substitution A G downstream_gene_variant BRCA-US 12 62786084 62786084 single base substitution A G synonymous_variant K750K 2250A>G BRCA-US 12 62786084 62786084 single base substitution A G synonymous_variant K754K 2262A>G BRCA-US 12 62786084 62786084 single base substitution A G synonymous_variant K779K 2337A>G BRCA-US 12 62786084 62786084 single base substitution A G upstream_gene_variant BRCA-US 12 62786838 62786838 single base substitution G A downstream_gene_variant BRCA-US 12 62786838 62786838 single base substitution G A missense_variant C11Y 32G>A BRCA-US 12 62786838 62786838 single base substitution G A missense_variant C780Y 2339G>A BRCA-US 12 62786838 62786838 single base substitution G A missense_variant C784Y 2351G>A BRCA-US 12 62786838 62786838 single base substitution G A missense_variant C809Y 2426G>A BRCA-US 12 62786838 62786838 single base substitution G A upstream_gene_variant BRCA-US 12 62790158 62790158 single base substitution G T exon_variant BRCA-US 12 62790158 62790158 single base substitution G T intron_variant BRCA-US 12 62790158 62790158 single base substitution G T missense_variant G856V 2567G>T BRCA-US 12 62790158 62790158 single base substitution G T missense_variant G860V 2579G>T BRCA-US 12 62790158 62790158 single base substitution G T missense_variant G87V 260G>T BRCA-US 12 62790158 62790158 single base substitution G T missense_variant G885V 2654G>T BRCA-US 12 62790158 62790158 single base substitution G T upstream_gene_variant BRCA-US 12 62794993 62794993 single base substitution G A 3_prime_UTR_variant BRCA-US 12 62794993 62794993 single base substitution G A exon_variant BRCA-US 12 62794993 62794993 single base substitution G A missense_variant D103N 307G>A BRCA-US 12 62794993 62794993 single base substitution G A missense_variant D872N 2614G>A BRCA-US 12 62794993 62794993 single base substitution G A missense_variant D876N 2626G>A BRCA-US 12 62794993 62794993 single base substitution G A missense_variant D901N 2701G>A BRCA-US 12 62795052 62795052 single base substitution T A 3_prime_UTR_variant BRCA-US 12 62795052 62795052 single base substitution T A exon_variant BRCA-US 12 62795052 62795052 single base substitution T A synonymous_variant I122I 366T>A BRCA-US 12 62795052 62795052 single base substitution T A synonymous_variant I891I 2673T>A BRCA-US 12 62795052 62795052 single base substitution T A synonymous_variant I895I 2685T>A BRCA-US 12 62795052 62795052 single base substitution T A synonymous_variant I920I 2760T>A BRCA-US 12 62798352 62798352 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 12 62798352 62798352 deletion of <=200bp A - exon_variant BRCA-US 12 62798352 62798352 deletion of <=200bp A - intron_variant BTCA-JP 12 62654349 62654349 single base substitution C T intron_variant BTCA-JP 12 62715200 62715200 single base substitution T G intron_variant BTCA-JP 12 62715200 62715200 single base substitution T G upstream_gene_variant BTCA-JP 12 62743063 62743063 single base substitution A T intron_variant BTCA-JP 12 62743063 62743063 single base substitution A T missense_variant N249Y 745A>T BTCA-JP 12 62743067 62743067 single base substitution A G intron_variant BTCA-JP 12 62743067 62743067 single base substitution A G missense_variant Y250C 749A>G BTCA-JP 12 62775491 62775491 single base substitution A C downstream_gene_variant BTCA-JP 12 62775491 62775491 single base substitution A C intron_variant BTCA-JP 12 62778094 62778094 single base substitution G T downstream_gene_variant BTCA-JP 12 62778094 62778094 single base substitution G T intron_variant BTCA-JP 12 62783372 62783372 single base substitution C T intron_variant BTCA-JP 12 62783372 62783372 single base substitution C T upstream_gene_variant BTCA-JP 12 62798059 62798059 single base substitution T A 3_prime_UTR_variant BTCA-JP 12 62798059 62798059 single base substitution T A exon_variant BTCA-JP 12 62798059 62798059 single base substitution T A intron_variant BTCA-JP 12 62798059 62798059 single base substitution T A synonymous_variant G921G 2763T>A BTCA-JP 12 62798059 62798059 single base substitution T A synonymous_variant G925G 2775T>A BTCA-JP 12 62798059 62798059 single base substitution T A synonymous_variant G950G 2850T>A CESC-US 12 62775325 62775325 single base substitution G A exon_variant CESC-US 12 62775325 62775325 single base substitution G A missense_variant E295K 883G>A CESC-US 12 62775325 62775325 single base substitution G A missense_variant E299K 895G>A CESC-US 12 62775325 62775325 single base substitution G A missense_variant E324K 970G>A CESC-US 12 62784715 62784715 single base substitution T G downstream_gene_variant CESC-US 12 62784715 62784715 single base substitution T G missense_variant I610S 1829T>G CESC-US 12 62784715 62784715 single base substitution T G missense_variant I614S 1841T>G CESC-US 12 62784715 62784715 single base substitution T G missense_variant I639S 1916T>G CESC-US 12 62784715 62784715 single base substitution T G upstream_gene_variant CESC-US 12 62798108 62798108 single base substitution G C 3_prime_UTR_variant CESC-US 12 62798108 62798108 single base substitution G C exon_variant CESC-US 12 62798108 62798108 single base substitution G C intron_variant CESC-US 12 62798108 62798108 single base substitution G C missense_variant D938H 2812G>C CESC-US 12 62798108 62798108 single base substitution G C missense_variant D942H 2824G>C CESC-US 12 62798108 62798108 single base substitution G C missense_variant D967H 2899G>C CESC-US 12 62798351 62798351 single base substitution T G 3_prime_UTR_variant CESC-US 12 62798351 62798351 single base substitution T G exon_variant CESC-US 12 62798351 62798351 single base substitution T G intron_variant CLLE-ES 12 62649840 62649840 single base substitution G A upstream_gene_variant CLLE-ES 12 62658033 62658033 single base substitution G A intron_variant CLLE-ES 12 62668721 62668721 single base substitution A G intron_variant CLLE-ES 12 62668721 62668721 single base substitution A G upstream_gene_variant CLLE-ES 12 62674505 62674505 single base substitution G A intron_variant CLLE-ES 12 62726714 62726714 single base substitution T C intron_variant CLLE-ES 12 62738640 62738640 single base substitution C G intron_variant CLLE-ES 12 62738686 62738686 single base substitution C T intron_variant CLLE-ES 12 62763541 62763541 single base substitution A T intron_variant CLLE-ES 12 62794981 62794981 single base substitution A G exon_variant CLLE-ES 12 62794981 62794981 single base substitution A G missense_variant K868E 2602A>G CLLE-ES 12 62794981 62794981 single base substitution A G missense_variant K872E 2614A>G CLLE-ES 12 62794981 62794981 single base substitution A G missense_variant K897E 2689A>G CLLE-ES 12 62794981 62794981 single base substitution A G missense_variant K99E 295A>G COAD-US 12 62696589 62696589 single base substitution T G exon_variant COAD-US 12 62696589 62696589 single base substitution T G missense_variant L25R 74T>G COAD-US 12 62696589 62696589 single base substitution T G missense_variant L74R 221T>G COAD-US 12 62696589 62696589 single base substitution T G missense_variant L79R 236T>G COAD-US 12 62696589 62696589 single base substitution T G upstream_gene_variant COAD-US 12 62696599 62696599 single base substitution C T exon_variant COAD-US 12 62696599 62696599 single base substitution C T synonymous_variant H28H 84C>T COAD-US 12 62696599 62696599 single base substitution C T synonymous_variant H77H 231C>T COAD-US 12 62696599 62696599 single base substitution C T synonymous_variant H82H 246C>T COAD-US 12 62696599 62696599 single base substitution C T upstream_gene_variant COAD-US 12 62696652 62696652 single base substitution T G exon_variant COAD-US 12 62696652 62696652 single base substitution T G missense_variant L100R 299T>G COAD-US 12 62696652 62696652 single base substitution T G missense_variant L46R 137T>G COAD-US 12 62696652 62696652 single base substitution T G missense_variant L95R 284T>G COAD-US 12 62696652 62696652 single base substitution T G upstream_gene_variant COAD-US 12 62777731 62777731 insertion of <=200bp - A downstream_gene_variant COAD-US 12 62777731 62777731 insertion of <=200bp - A exon_variant COAD-US 12 62777731 62777731 insertion of <=200bp - A frameshift_variant R371R? COAD-US 12 62777731 62777731 insertion of <=200bp - A frameshift_variant R375R? COAD-US 12 62777731 62777731 insertion of <=200bp - A frameshift_variant R400R? COAD-US 12 62777737 62777737 single base substitution A C downstream_gene_variant COAD-US 12 62777737 62777737 single base substitution A C exon_variant COAD-US 12 62777737 62777737 single base substitution A C missense_variant K373N 1119A>C COAD-US 12 62777737 62777737 single base substitution A C missense_variant K377N 1131A>C COAD-US 12 62777737 62777737 single base substitution A C missense_variant K402N 1206A>C COAD-US 12 62783576 62783576 single base substitution G T splice_acceptor_variant COAD-US 12 62783576 62783576 single base substitution G T upstream_gene_variant COAD-US 12 62785027 62785027 single base substitution T G downstream_gene_variant COAD-US 12 62785027 62785027 single base substitution T G missense_variant V655G 1964T>G COAD-US 12 62785027 62785027 single base substitution T G missense_variant V659G 1976T>G COAD-US 12 62785027 62785027 single base substitution T G missense_variant V684G 2051T>G COAD-US 12 62785027 62785027 single base substitution T G upstream_gene_variant COAD-US 12 62785663 62785663 single base substitution T C downstream_gene_variant COAD-US 12 62785663 62785663 single base substitution T C synonymous_variant A738A 2214T>C COAD-US 12 62785663 62785663 single base substitution T C synonymous_variant A742A 2226T>C COAD-US 12 62785663 62785663 single base substitution T C synonymous_variant A767A 2301T>C COAD-US 12 62785663 62785663 single base substitution T C upstream_gene_variant COAD-US 12 62798030 62798030 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 12 62798030 62798030 deletion of <=200bp T - exon_variant COAD-US 12 62798030 62798030 deletion of <=200bp T - frameshift_variant F912 COAD-US 12 62798030 62798030 deletion of <=200bp T - frameshift_variant F916 COAD-US 12 62798030 62798030 deletion of <=200bp T - frameshift_variant F941 COAD-US 12 62798030 62798030 deletion of <=200bp T - intron_variant COCA-CN 12 62658083 62658083 single base substitution A T intron_variant COCA-CN 12 62662797 62662797 single base substitution G T intron_variant COCA-CN 12 62696562 62696562 single base substitution C A intron_variant COCA-CN 12 62696562 62696562 single base substitution C A upstream_gene_variant COCA-CN 12 62696738 62696738 single base substitution T G exon_variant COCA-CN 12 62696738 62696738 single base substitution T G intron_variant COCA-CN 12 62696738 62696738 single base substitution T G upstream_gene_variant COCA-CN 12 62698442 62698442 single base substitution C T downstream_gene_variant COCA-CN 12 62698442 62698442 single base substitution C T intron_variant COCA-CN 12 62698442 62698442 single base substitution C T upstream_gene_variant COCA-CN 12 62698516 62698516 single base substitution C A downstream_gene_variant COCA-CN 12 62698516 62698516 single base substitution C A exon_variant COCA-CN 12 62698516 62698516 single base substitution C A intron_variant COCA-CN 12 62698516 62698516 single base substitution C A upstream_gene_variant COCA-CN 12 62705886 62705886 single base substitution G A intron_variant COCA-CN 12 62708542 62708542 single base substitution C T intron_variant COCA-CN 12 62708754 62708754 single base substitution T G exon_variant COCA-CN 12 62708754 62708754 single base substitution T G intron_variant COCA-CN 12 62724699 62724699 single base substitution T C downstream_gene_variant COCA-CN 12 62724699 62724699 single base substitution T C intron_variant COCA-CN 12 62726054 62726054 single base substitution T C downstream_gene_variant COCA-CN 12 62726054 62726054 single base substitution T C intron_variant COCA-CN 12 62728943 62728943 single base substitution C A intron_variant COCA-CN 12 62738806 62738806 single base substitution A C intron_variant COCA-CN 12 62745322 62745322 single base substitution T C intron_variant COCA-CN 12 62745322 62745322 single base substitution T C upstream_gene_variant COCA-CN 12 62759601 62759601 single base substitution C T intron_variant COCA-CN 12 62764909 62764909 single base substitution T C intron_variant COCA-CN 12 62775361 62775361 single base substitution G T exon_variant COCA-CN 12 62775361 62775361 single base substitution G T missense_variant G307C 919G>T COCA-CN 12 62775361 62775361 single base substitution G T missense_variant G311C 931G>T COCA-CN 12 62775361 62775361 single base substitution G T missense_variant G336C 1006G>T COCA-CN 12 62777940 62777940 single base substitution T A downstream_gene_variant COCA-CN 12 62777940 62777940 single base substitution T A exon_variant COCA-CN 12 62777940 62777940 single base substitution T A missense_variant S415T 1243T>A COCA-CN 12 62777940 62777940 single base substitution T A missense_variant S419T 1255T>A COCA-CN 12 62777940 62777940 single base substitution T A missense_variant S444T 1330T>A COCA-CN 12 62784907 62784907 single base substitution T C downstream_gene_variant COCA-CN 12 62784907 62784907 single base substitution T C intron_variant COCA-CN 12 62784907 62784907 single base substitution T C upstream_gene_variant COCA-CN 12 62790095 62790095 single base substitution T G exon_variant COCA-CN 12 62790095 62790095 single base substitution T G intron_variant COCA-CN 12 62790095 62790095 single base substitution T G missense_variant F66C 197T>G COCA-CN 12 62790095 62790095 single base substitution T G missense_variant F835C 2504T>G COCA-CN 12 62790095 62790095 single base substitution T G missense_variant F839C 2516T>G COCA-CN 12 62790095 62790095 single base substitution T G missense_variant F864C 2591T>G COCA-CN 12 62790095 62790095 single base substitution T G upstream_gene_variant COCA-CN 12 62790171 62790171 single base substitution A G exon_variant COCA-CN 12 62790171 62790171 single base substitution A G intron_variant COCA-CN 12 62790171 62790171 single base substitution A G synonymous_variant G860G 2580A>G COCA-CN 12 62790171 62790171 single base substitution A G synonymous_variant G864G 2592A>G COCA-CN 12 62790171 62790171 single base substitution A G synonymous_variant G889G 2667A>G COCA-CN 12 62790171 62790171 single base substitution A G synonymous_variant G91G 273A>G COCA-CN 12 62790171 62790171 single base substitution A G upstream_gene_variant COCA-CN 12 62790173 62790173 single base substitution G A exon_variant COCA-CN 12 62790173 62790173 single base substitution G A intron_variant COCA-CN 12 62790173 62790173 single base substitution G A missense_variant G861E 2582G>A COCA-CN 12 62790173 62790173 single base substitution G A missense_variant G865E 2594G>A COCA-CN 12 62790173 62790173 single base substitution G A missense_variant G890E 2669G>A COCA-CN 12 62790173 62790173 single base substitution G A missense_variant G92E 275G>A COCA-CN 12 62790173 62790173 single base substitution G A upstream_gene_variant COCA-CN 12 62795102 62795102 single base substitution A G intron_variant EOPC-DE 12 62785277 62785277 single base substitution A G downstream_gene_variant EOPC-DE 12 62785277 62785277 single base substitution A G intron_variant EOPC-DE 12 62785277 62785277 single base substitution A G upstream_gene_variant ESAD-UK 12 62650477 62650477 single base substitution G T upstream_gene_variant ESAD-UK 12 62650948 62650948 insertion of <=200bp - TGTGTATATGTATATATACACAA upstream_gene_variant ESAD-UK 12 62650950 62650950 insertion of <=200bp - TGTATATATATATATACACAA upstream_gene_variant ESAD-UK 12 62651859 62651859 single base substitution A G upstream_gene_variant ESAD-UK 12 62653097 62653097 single base substitution T G upstream_gene_variant ESAD-UK 12 62656875 62656875 single base substitution G C intron_variant ESAD-UK 12 62657457 62657457 single base substitution G C intron_variant ESAD-UK 12 62658492 62658492 single base substitution C T intron_variant ESAD-UK 12 62659900 62659900 single base substitution G C intron_variant ESAD-UK 12 62659986 62659986 single base substitution G A intron_variant ESAD-UK 12 62660022 62660022 single base substitution G A intron_variant ESAD-UK 12 62661164 62661164 deletion of <=200bp A - intron_variant ESAD-UK 12 62663123 62663123 single base substitution G A intron_variant ESAD-UK 12 62663375 62663375 deletion of <=200bp T - intron_variant ESAD-UK 12 62665788 62665788 single base substitution A G intron_variant ESAD-UK 12 62667097 62667099 deletion of <=200bp AAC - intron_variant ESAD-UK 12 62669184 62669184 single base substitution A C intron_variant ESAD-UK 12 62669184 62669184 single base substitution A C upstream_gene_variant ESAD-UK 12 62671353 62671353 single base substitution A G intron_variant ESAD-UK 12 62671353 62671353 single base substitution A G upstream_gene_variant ESAD-UK 12 62675130 62675130 single base substitution C T intron_variant ESAD-UK 12 62675449 62675449 single base substitution G A intron_variant ESAD-UK 12 62675645 62675645 single base substitution G A intron_variant ESAD-UK 12 62677572 62677572 single base substitution A C intron_variant ESAD-UK 12 62678606 62678606 single base substitution T G intron_variant ESAD-UK 12 62679632 62679632 single base substitution G C intron_variant ESAD-UK 12 62679652 62679652 single base substitution C T intron_variant ESAD-UK 12 62685785 62685785 single base substitution C T intron_variant ESAD-UK 12 62686335 62686335 single base substitution G A intron_variant ESAD-UK 12 62687342 62687342 single base substitution G A intron_variant ESAD-UK 12 62689994 62689994 single base substitution G T downstream_gene_variant ESAD-UK 12 62689994 62689994 single base substitution G T intron_variant ESAD-UK 12 62691166 62691166 single base substitution G T downstream_gene_variant ESAD-UK 12 62691166 62691166 single base substitution G T intron_variant ESAD-UK 12 62691656 62691656 single base substitution C G downstream_gene_variant ESAD-UK 12 62691656 62691656 single base substitution C G intron_variant ESAD-UK 12 62693039 62693039 single base substitution G A downstream_gene_variant ESAD-UK 12 62693039 62693039 single base substitution G A intron_variant ESAD-UK 12 62693421 62693421 single base substitution T G downstream_gene_variant ESAD-UK 12 62693421 62693421 single base substitution T G intron_variant ESAD-UK 12 62694857 62694857 insertion of <=200bp - AT intron_variant ESAD-UK 12 62694857 62694857 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 12 62695064 62695064 single base substitution C A intron_variant ESAD-UK 12 62695064 62695064 single base substitution C A upstream_gene_variant ESAD-UK 12 62695479 62695479 single base substitution G C intron_variant ESAD-UK 12 62695479 62695479 single base substitution G C upstream_gene_variant ESAD-UK 12 62695998 62696004 deletion of <=200bp GGTTGTT - intron_variant ESAD-UK 12 62695998 62696004 deletion of <=200bp GGTTGTT - upstream_gene_variant ESAD-UK 12 62696088 62696088 single base substitution T C intron_variant ESAD-UK 12 62696088 62696088 single base substitution T C upstream_gene_variant ESAD-UK 12 62698526 62698526 single base substitution G A downstream_gene_variant ESAD-UK 12 62698526 62698526 single base substitution G A exon_variant ESAD-UK 12 62698526 62698526 single base substitution G A intron_variant ESAD-UK 12 62698526 62698526 single base substitution G A upstream_gene_variant ESAD-UK 12 62699844 62699844 single base substitution G A downstream_gene_variant ESAD-UK 12 62699844 62699844 single base substitution G A intron_variant ESAD-UK 12 62700118 62700118 single base substitution T G downstream_gene_variant ESAD-UK 12 62700118 62700118 single base substitution T G intron_variant ESAD-UK 12 62701521 62701521 single base substitution C T downstream_gene_variant ESAD-UK 12 62701521 62701521 single base substitution C T intron_variant ESAD-UK 12 62704413 62704413 single base substitution G C intron_variant ESAD-UK 12 62706197 62706197 single base substitution C T intron_variant ESAD-UK 12 62707341 62707341 single base substitution G A intron_variant ESAD-UK 12 62707730 62707730 single base substitution A G intron_variant ESAD-UK 12 62708340 62708340 single base substitution T A intron_variant ESAD-UK 12 62714744 62714744 single base substitution G A intron_variant ESAD-UK 12 62714744 62714744 single base substitution G A upstream_gene_variant ESAD-UK 12 62714832 62714832 single base substitution G A intron_variant ESAD-UK 12 62714832 62714832 single base substitution G A upstream_gene_variant ESAD-UK 12 62717019 62717019 single base substitution G C downstream_gene_variant ESAD-UK 12 62717019 62717019 single base substitution G C intron_variant ESAD-UK 12 62717579 62717579 single base substitution C A downstream_gene_variant ESAD-UK 12 62717579 62717579 single base substitution C A intron_variant ESAD-UK 12 62720352 62720352 single base substitution C A downstream_gene_variant ESAD-UK 12 62720352 62720352 single base substitution C A intron_variant ESAD-UK 12 62720598 62720598 single base substitution C A downstream_gene_variant ESAD-UK 12 62720598 62720598 single base substitution C A intron_variant ESAD-UK 12 62721257 62721257 single base substitution C T downstream_gene_variant ESAD-UK 12 62721257 62721257 single base substitution C T intron_variant ESAD-UK 12 62721913 62721913 single base substitution T A downstream_gene_variant ESAD-UK 12 62721913 62721913 single base substitution T A intron_variant ESAD-UK 12 62722621 62722621 single base substitution G A downstream_gene_variant ESAD-UK 12 62722621 62722621 single base substitution G A intron_variant ESAD-UK 12 62723607 62723607 single base substitution G T downstream_gene_variant ESAD-UK 12 62723607 62723607 single base substitution G T intron_variant ESAD-UK 12 62727630 62727630 single base substitution G C intron_variant ESAD-UK 12 62728926 62728926 deletion of <=200bp T - intron_variant ESAD-UK 12 62729442 62729442 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 62729442 62729442 single base substitution A G downstream_gene_variant ESAD-UK 12 62729442 62729442 single base substitution A G intron_variant ESAD-UK 12 62733586 62733586 single base substitution T C downstream_gene_variant ESAD-UK 12 62733586 62733586 single base substitution T C intron_variant ESAD-UK 12 62734125 62734125 single base substitution G A downstream_gene_variant ESAD-UK 12 62734125 62734125 single base substitution G A intron_variant ESAD-UK 12 62734590 62734590 single base substitution T G downstream_gene_variant ESAD-UK 12 62734590 62734590 single base substitution T G intron_variant ESAD-UK 12 62735216 62735216 insertion of <=200bp - T downstream_gene_variant ESAD-UK 12 62735216 62735216 insertion of <=200bp - T intron_variant ESAD-UK 12 62735216 62735216 single base substitution T G downstream_gene_variant ESAD-UK 12 62735216 62735216 single base substitution T G intron_variant ESAD-UK 12 62737059 62737059 single base substitution G A intron_variant ESAD-UK 12 62741123 62741123 single base substitution G A intron_variant ESAD-UK 12 62745813 62745813 single base substitution T G intron_variant ESAD-UK 12 62745813 62745813 single base substitution T G upstream_gene_variant ESAD-UK 12 62747464 62747464 deletion of <=200bp T - intron_variant ESAD-UK 12 62747464 62747464 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 62749884 62749884 single base substitution T G downstream_gene_variant ESAD-UK 12 62749884 62749884 single base substitution T G intron_variant ESAD-UK 12 62750112 62750112 single base substitution C T downstream_gene_variant ESAD-UK 12 62750112 62750112 single base substitution C T intron_variant ESAD-UK 12 62752507 62752507 single base substitution T G downstream_gene_variant ESAD-UK 12 62752507 62752507 single base substitution T G intron_variant ESAD-UK 12 62755565 62755565 single base substitution T C intron_variant ESAD-UK 12 62756289 62756289 single base substitution G A intron_variant ESAD-UK 12 62756330 62756330 single base substitution G A intron_variant ESAD-UK 12 62758385 62758385 single base substitution C T intron_variant ESAD-UK 12 62761022 62761022 single base substitution T C intron_variant ESAD-UK 12 62761207 62761207 single base substitution C T intron_variant ESAD-UK 12 62764100 62764100 single base substitution G A intron_variant ESAD-UK 12 62765838 62765838 insertion of <=200bp - A intron_variant ESAD-UK 12 62768695 62768695 single base substitution C T intron_variant ESAD-UK 12 62769194 62769194 single base substitution T G intron_variant ESAD-UK 12 62769285 62769285 single base substitution A T intron_variant ESAD-UK 12 62769490 62769490 single base substitution A G intron_variant ESAD-UK 12 62771791 62771791 single base substitution C G intron_variant ESAD-UK 12 62772381 62772381 single base substitution G C intron_variant ESAD-UK 12 62772668 62772668 single base substitution A T intron_variant ESAD-UK 12 62773675 62773675 single base substitution G T intron_variant ESAD-UK 12 62775176 62775176 single base substitution T C intron_variant ESAD-UK 12 62775592 62775592 single base substitution C T downstream_gene_variant ESAD-UK 12 62775592 62775592 single base substitution C T intron_variant ESAD-UK 12 62776437 62776437 single base substitution A G downstream_gene_variant ESAD-UK 12 62776437 62776437 single base substitution A G intron_variant ESAD-UK 12 62777985 62777985 single base substitution G T downstream_gene_variant ESAD-UK 12 62777985 62777985 single base substitution G T exon_variant ESAD-UK 12 62777985 62777985 single base substitution G T missense_variant D430Y 1288G>T ESAD-UK 12 62777985 62777985 single base substitution G T missense_variant D434Y 1300G>T ESAD-UK 12 62777985 62777985 single base substitution G T missense_variant D459Y 1375G>T ESAD-UK 12 62780723 62780723 single base substitution G A intron_variant ESAD-UK 12 62781067 62781067 single base substitution G A intron_variant ESAD-UK 12 62781427 62781427 single base substitution G C intron_variant ESAD-UK 12 62781427 62781427 single base substitution G C upstream_gene_variant ESAD-UK 12 62782072 62782072 single base substitution C A intron_variant ESAD-UK 12 62782072 62782072 single base substitution C A upstream_gene_variant ESAD-UK 12 62782463 62782463 single base substitution G A intron_variant ESAD-UK 12 62782463 62782463 single base substitution G A upstream_gene_variant ESAD-UK 12 62783984 62783984 single base substitution G C downstream_gene_variant ESAD-UK 12 62783984 62783984 single base substitution G C intron_variant ESAD-UK 12 62783984 62783984 single base substitution G C upstream_gene_variant ESAD-UK 12 62786789 62786789 single base substitution G A downstream_gene_variant ESAD-UK 12 62786789 62786789 single base substitution G A intron_variant ESAD-UK 12 62786789 62786789 single base substitution G A upstream_gene_variant ESAD-UK 12 62789508 62789508 single base substitution C T intron_variant ESAD-UK 12 62789508 62789508 single base substitution C T upstream_gene_variant ESAD-UK 12 62789957 62789957 single base substitution T G intron_variant ESAD-UK 12 62789957 62789957 single base substitution T G upstream_gene_variant ESAD-UK 12 62790228 62790228 single base substitution C G intron_variant ESAD-UK 12 62790228 62790228 single base substitution C G upstream_gene_variant ESAD-UK 12 62790319 62790319 single base substitution G A intron_variant ESAD-UK 12 62790319 62790319 single base substitution G A upstream_gene_variant ESAD-UK 12 62790922 62790922 single base substitution T G intron_variant ESAD-UK 12 62790922 62790922 single base substitution T G upstream_gene_variant ESAD-UK 12 62791337 62791337 insertion of <=200bp - G intron_variant ESAD-UK 12 62791337 62791337 insertion of <=200bp - G upstream_gene_variant ESAD-UK 12 62791896 62791896 single base substitution C T intron_variant ESAD-UK 12 62791896 62791896 single base substitution C T upstream_gene_variant ESAD-UK 12 62791945 62791945 single base substitution G T intron_variant ESAD-UK 12 62791945 62791945 single base substitution G T upstream_gene_variant ESAD-UK 12 62794198 62794198 single base substitution C T intron_variant ESAD-UK 12 62794198 62794198 single base substitution C T upstream_gene_variant ESAD-UK 12 62794639 62794639 single base substitution A G intron_variant ESAD-UK 12 62794639 62794639 single base substitution A G upstream_gene_variant ESAD-UK 12 62795131 62795131 single base substitution C T intron_variant ESAD-UK 12 62798698 62798698 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 62798698 62798698 single base substitution T C downstream_gene_variant ESAD-UK 12 62798698 62798698 single base substitution T C intron_variant ESAD-UK 12 62799086 62799086 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 62799086 62799086 single base substitution G A downstream_gene_variant ESAD-UK 12 62799086 62799086 single base substitution G A intron_variant ESAD-UK 12 62802312 62802312 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 62802312 62802312 deletion of <=200bp T - intron_variant ESAD-UK 12 62802403 62802403 single base substitution G A downstream_gene_variant ESAD-UK 12 62802403 62802403 single base substitution G A intron_variant ESAD-UK 12 62802655 62802655 single base substitution G A downstream_gene_variant ESAD-UK 12 62802655 62802655 single base substitution G A intron_variant ESAD-UK 12 62807056 62807056 single base substitution T C intron_variant ESAD-UK 12 62807451 62807451 single base substitution C T intron_variant ESAD-UK 12 62807578 62807578 single base substitution G A intron_variant ESAD-UK 12 62809235 62809235 single base substitution C T intron_variant ESAD-UK 12 62811873 62811873 single base substitution G T downstream_gene_variant ESAD-UK 12 62812025 62812025 single base substitution G A downstream_gene_variant ESAD-UK 12 62813060 62813060 single base substitution C T downstream_gene_variant ESCA-CN 12 62715306 62715306 single base substitution G T downstream_gene_variant ESCA-CN 12 62715306 62715306 single base substitution G T exon_variant ESCA-CN 12 62715306 62715306 single base substitution G T missense_variant L125F 375G>T ESCA-CN 12 62715306 62715306 single base substitution G T missense_variant L174F 522G>T ESCA-CN 12 62715306 62715306 single base substitution G T missense_variant L179F 537G>T ESCA-CN 12 62715306 62715306 single base substitution G T missense_variant L58F 174G>T ESCA-CN 12 62749148 62749148 single base substitution C T exon_variant ESCA-CN 12 62749148 62749148 single base substitution C T synonymous_variant T240T 720C>T ESCA-CN 12 62749148 62749148 single base substitution C T synonymous_variant T244T 732C>T ESCA-CN 12 62749148 62749148 single base substitution C T synonymous_variant T269T 807C>T ESCA-CN 12 62749148 62749148 single base substitution C T upstream_gene_variant ESCA-CN 12 62798027 62798027 single base substitution G C 3_prime_UTR_variant ESCA-CN 12 62798027 62798027 single base substitution G C exon_variant ESCA-CN 12 62798027 62798027 single base substitution G C intron_variant ESCA-CN 12 62798027 62798027 single base substitution G C missense_variant G911R 2731G>C ESCA-CN 12 62798027 62798027 single base substitution G C missense_variant G915R 2743G>C ESCA-CN 12 62798027 62798027 single base substitution G C missense_variant G940R 2818G>C ESCA-CN 12 62799761 62799761 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 62799761 62799761 single base substitution C T downstream_gene_variant ESCA-CN 12 62799761 62799761 single base substitution C T intron_variant GBM-US 12 62777954 62777954 single base substitution T C downstream_gene_variant GBM-US 12 62777954 62777954 single base substitution T C exon_variant GBM-US 12 62777954 62777954 single base substitution T C synonymous_variant C419C 1257T>C GBM-US 12 62777954 62777954 single base substitution T C synonymous_variant C423C 1269T>C GBM-US 12 62777954 62777954 single base substitution T C synonymous_variant C448C 1344T>C GBM-US 12 62785633 62785633 insertion of <=200bp - A downstream_gene_variant GBM-US 12 62785633 62785633 insertion of <=200bp - A frameshift_variant L728L? GBM-US 12 62785633 62785633 insertion of <=200bp - A frameshift_variant L732L? GBM-US 12 62785633 62785633 insertion of <=200bp - A frameshift_variant L757L? GBM-US 12 62785633 62785633 insertion of <=200bp - A upstream_gene_variant KIRC-US 12 62777762 62777762 single base substitution G T downstream_gene_variant KIRC-US 12 62777762 62777762 single base substitution G T exon_variant KIRC-US 12 62777762 62777762 single base substitution G T missense_variant D382Y 1144G>T KIRC-US 12 62777762 62777762 single base substitution G T missense_variant D386Y 1156G>T KIRC-US 12 62777762 62777762 single base substitution G T missense_variant D411Y 1231G>T KIRC-US 12 62777931 62777931 single base substitution C A downstream_gene_variant KIRC-US 12 62777931 62777931 single base substitution C A exon_variant KIRC-US 12 62777931 62777931 single base substitution C A missense_variant L412I 1234C>A KIRC-US 12 62777931 62777931 single base substitution C A missense_variant L416I 1246C>A KIRC-US 12 62777931 62777931 single base substitution C A missense_variant L441I 1321C>A KIRC-US 12 62790158 62790158 single base substitution G C exon_variant KIRC-US 12 62790158 62790158 single base substitution G C intron_variant KIRC-US 12 62790158 62790158 single base substitution G C missense_variant G856A 2567G>C KIRC-US 12 62790158 62790158 single base substitution G C missense_variant G860A 2579G>C KIRC-US 12 62790158 62790158 single base substitution G C missense_variant G87A 260G>C KIRC-US 12 62790158 62790158 single base substitution G C missense_variant G885A 2654G>C KIRC-US 12 62790158 62790158 single base substitution G C upstream_gene_variant KIRC-US 12 62798002 62798002 single base substitution G C 3_prime_UTR_variant KIRC-US 12 62798002 62798002 single base substitution G C exon_variant KIRC-US 12 62798002 62798002 single base substitution G C intron_variant KIRC-US 12 62798002 62798002 single base substitution G C missense_variant Q902H 2706G>C KIRC-US 12 62798002 62798002 single base substitution G C missense_variant Q906H 2718G>C KIRC-US 12 62798002 62798002 single base substitution G C missense_variant Q931H 2793G>C KIRP-US 12 62795034 62795034 single base substitution T A 3_prime_UTR_variant KIRP-US 12 62795034 62795034 single base substitution T A exon_variant KIRP-US 12 62795034 62795034 single base substitution T A synonymous_variant T116T 348T>A KIRP-US 12 62795034 62795034 single base substitution T A synonymous_variant T885T 2655T>A KIRP-US 12 62795034 62795034 single base substitution T A synonymous_variant T889T 2667T>A KIRP-US 12 62795034 62795034 single base substitution T A synonymous_variant T914T 2742T>A LAML-KR 12 62696594 62696594 single base substitution G A exon_variant LAML-KR 12 62696594 62696594 single base substitution G A missense_variant E27K 79G>A LAML-KR 12 62696594 62696594 single base substitution G A missense_variant E76K 226G>A LAML-KR 12 62696594 62696594 single base substitution G A missense_variant E81K 241G>A LAML-KR 12 62696594 62696594 single base substitution G A upstream_gene_variant LGG-US 12 62715345 62715345 single base substitution T C downstream_gene_variant LGG-US 12 62715345 62715345 single base substitution T C exon_variant LGG-US 12 62715345 62715345 single base substitution T C synonymous_variant N138N 414T>C LGG-US 12 62715345 62715345 single base substitution T C synonymous_variant N187N 561T>C LGG-US 12 62715345 62715345 single base substitution T C synonymous_variant N192N 576T>C LGG-US 12 62715345 62715345 single base substitution T C synonymous_variant N71N 213T>C LICA-CN 12 62688075 62688075 single base substitution G T exon_variant LICA-CN 12 62688075 62688075 single base substitution G T stop_gained G15* 43G>T LICA-CN 12 62688075 62688075 single base substitution G T stop_gained G64* 190G>T LICA-CN 12 62688075 62688075 single base substitution G T stop_gained G69* 205G>T LICA-CN 12 62715298 62715298 single base substitution A T downstream_gene_variant LICA-CN 12 62715298 62715298 single base substitution A T exon_variant LICA-CN 12 62715298 62715298 single base substitution A T missense_variant T123S 367A>T LICA-CN 12 62715298 62715298 single base substitution A T missense_variant T172S 514A>T LICA-CN 12 62715298 62715298 single base substitution A T missense_variant T177S 529A>T LICA-CN 12 62715298 62715298 single base substitution A T missense_variant T56S 166A>T LICA-CN 12 62778039 62778039 single base substitution G T downstream_gene_variant LICA-CN 12 62778039 62778039 single base substitution G T exon_variant LICA-CN 12 62778039 62778039 single base substitution G T stop_gained E448* 1342G>T LICA-CN 12 62778039 62778039 single base substitution G T stop_gained E452* 1354G>T LICA-CN 12 62778039 62778039 single base substitution G T stop_gained E477* 1429G>T LICA-FR 12 62673221 62673221 single base substitution G A intron_variant LICA-FR 12 62719170 62719170 single base substitution A G downstream_gene_variant LICA-FR 12 62719170 62719170 single base substitution A G intron_variant LICA-FR 12 62724552 62724552 single base substitution C A downstream_gene_variant LICA-FR 12 62724552 62724552 single base substitution C A intron_variant LICA-FR 12 62745814 62745814 single base substitution A G intron_variant LICA-FR 12 62745814 62745814 single base substitution A G upstream_gene_variant LICA-FR 12 62756668 62756668 single base substitution A T intron_variant LICA-FR 12 62785010 62785010 single base substitution T G downstream_gene_variant LICA-FR 12 62785010 62785010 single base substitution T G missense_variant S649R 1947T>G LICA-FR 12 62785010 62785010 single base substitution T G missense_variant S653R 1959T>G LICA-FR 12 62785010 62785010 single base substitution T G missense_variant S678R 2034T>G LICA-FR 12 62785010 62785010 single base substitution T G upstream_gene_variant LICA-FR 12 62791012 62791012 single base substitution A G intron_variant LICA-FR 12 62791012 62791012 single base substitution A G upstream_gene_variant LICA-FR 12 62792852 62792852 single base substitution T A intron_variant LICA-FR 12 62792852 62792852 single base substitution T A upstream_gene_variant LICA-FR 12 62814636 62814636 single base substitution A T downstream_gene_variant LIHC-US 12 62775287 62775287 single base substitution C T exon_variant LIHC-US 12 62775287 62775287 single base substitution C T missense_variant P282L 845C>T LIHC-US 12 62775287 62775287 single base substitution C T missense_variant P286L 857C>T LIHC-US 12 62775287 62775287 single base substitution C T missense_variant P311L 932C>T LIHC-US 12 62783237 62783237 single base substitution A G exon_variant LIHC-US 12 62783237 62783237 single base substitution A G synonymous_variant G471G 1413A>G LIHC-US 12 62783237 62783237 single base substitution A G synonymous_variant G475G 1425A>G LIHC-US 12 62783237 62783237 single base substitution A G synonymous_variant G500G 1500A>G LIHC-US 12 62783237 62783237 single base substitution A G upstream_gene_variant LIHC-US 12 62783254 62783254 single base substitution G T exon_variant LIHC-US 12 62783254 62783254 single base substitution G T missense_variant C477F 1430G>T LIHC-US 12 62783254 62783254 single base substitution G T missense_variant C481F 1442G>T LIHC-US 12 62783254 62783254 single base substitution G T missense_variant C506F 1517G>T LIHC-US 12 62783254 62783254 single base substitution G T upstream_gene_variant LIHC-US 12 62790141 62790141 single base substitution T C exon_variant LIHC-US 12 62790141 62790141 single base substitution T C intron_variant LIHC-US 12 62790141 62790141 single base substitution T C synonymous_variant A81A 243T>C LIHC-US 12 62790141 62790141 single base substitution T C synonymous_variant A850A 2550T>C LIHC-US 12 62790141 62790141 single base substitution T C synonymous_variant A854A 2562T>C LIHC-US 12 62790141 62790141 single base substitution T C synonymous_variant A879A 2637T>C LIHC-US 12 62790141 62790141 single base substitution T C upstream_gene_variant LINC-JP 12 62656793 62656793 single base substitution G A intron_variant LINC-JP 12 62679966 62679966 single base substitution A G intron_variant LINC-JP 12 62682622 62682622 single base substitution G A intron_variant LINC-JP 12 62688168 62688168 single base substitution T G exon_variant LINC-JP 12 62688168 62688168 single base substitution T G intron_variant LINC-JP 12 62694068 62694068 single base substitution A G intron_variant LINC-JP 12 62696195 62696195 single base substitution G C intron_variant LINC-JP 12 62696195 62696195 single base substitution G C upstream_gene_variant LINC-JP 12 62698525 62698525 single base substitution A T downstream_gene_variant LINC-JP 12 62698525 62698525 single base substitution A T exon_variant LINC-JP 12 62698525 62698525 single base substitution A T intron_variant LINC-JP 12 62698525 62698525 single base substitution A T upstream_gene_variant LINC-JP 12 62698942 62698942 single base substitution A G downstream_gene_variant LINC-JP 12 62698942 62698942 single base substitution A G intron_variant LINC-JP 12 62698942 62698942 single base substitution A G upstream_gene_variant LINC-JP 12 62707058 62707058 single base substitution A G intron_variant LINC-JP 12 62708662 62708662 single base substitution T C exon_variant LINC-JP 12 62708662 62708662 single base substitution T C missense_variant V142A 425T>C LINC-JP 12 62708662 62708662 single base substitution T C missense_variant V147A 440T>C LINC-JP 12 62708662 62708662 single base substitution T C missense_variant V155A 464T>C LINC-JP 12 62708662 62708662 single base substitution T C missense_variant V26A 77T>C LINC-JP 12 62708662 62708662 single base substitution T C missense_variant V93A 278T>C LINC-JP 12 62710339 62710339 single base substitution A G downstream_gene_variant LINC-JP 12 62710339 62710339 single base substitution A G intron_variant LINC-JP 12 62710339 62710339 single base substitution A G upstream_gene_variant LINC-JP 12 62715271 62715271 single base substitution A G downstream_gene_variant LINC-JP 12 62715271 62715271 single base substitution A G exon_variant LINC-JP 12 62715271 62715271 single base substitution A G missense_variant I114V 340A>G LINC-JP 12 62715271 62715271 single base substitution A G missense_variant I163V 487A>G LINC-JP 12 62715271 62715271 single base substitution A G missense_variant I168V 502A>G LINC-JP 12 62715271 62715271 single base substitution A G missense_variant I47V 139A>G LINC-JP 12 62728926 62728926 deletion of <=200bp T - intron_variant LINC-JP 12 62735990 62735990 single base substitution G C intron_variant LINC-JP 12 62739525 62739525 single base substitution G T intron_variant LINC-JP 12 62741260 62741260 single base substitution A G intron_variant LINC-JP 12 62746620 62746620 single base substitution A G intron_variant LINC-JP 12 62746620 62746620 single base substitution A G upstream_gene_variant LINC-JP 12 62755574 62755574 single base substitution A T intron_variant LINC-JP 12 62767299 62767299 single base substitution A G intron_variant LINC-JP 12 62775329 62775329 insertion of <=200bp - AAC exon_variant LINC-JP 12 62775329 62775329 insertion of <=200bp - AAC inframe_insertion E296EQ LINC-JP 12 62775329 62775329 insertion of <=200bp - AAC inframe_insertion E300EQ LINC-JP 12 62775329 62775329 insertion of <=200bp - AAC inframe_insertion E325EQ LINC-JP 12 62778045 62778045 single base substitution T C downstream_gene_variant LINC-JP 12 62778045 62778045 single base substitution T C exon_variant LINC-JP 12 62778045 62778045 single base substitution T C missense_variant Y450H 1348T>C LINC-JP 12 62778045 62778045 single base substitution T C missense_variant Y454H 1360T>C LINC-JP 12 62778045 62778045 single base substitution T C missense_variant Y479H 1435T>C LINC-JP 12 62778584 62778584 insertion of <=200bp - T downstream_gene_variant LINC-JP 12 62778584 62778584 insertion of <=200bp - T intron_variant LINC-JP 12 62783406 62783406 single base substitution A T exon_variant LINC-JP 12 62783406 62783406 single base substitution A T missense_variant N498Y 1492A>T LINC-JP 12 62783406 62783406 single base substitution A T missense_variant N502Y 1504A>T LINC-JP 12 62783406 62783406 single base substitution A T missense_variant N527Y 1579A>T LINC-JP 12 62783406 62783406 single base substitution A T upstream_gene_variant LINC-JP 12 62784631 62784631 single base substitution G T downstream_gene_variant LINC-JP 12 62784631 62784631 single base substitution G T intron_variant LINC-JP 12 62784631 62784631 single base substitution G T upstream_gene_variant LINC-JP 12 62786763 62786763 single base substitution G A downstream_gene_variant LINC-JP 12 62786763 62786763 single base substitution G A intron_variant LINC-JP 12 62786763 62786763 single base substitution G A upstream_gene_variant LINC-JP 12 62795134 62795134 single base substitution A G intron_variant LINC-JP 12 62795905 62795905 single base substitution G T intron_variant LINC-JP 12 62800913 62800913 single base substitution A G downstream_gene_variant LINC-JP 12 62800913 62800913 single base substitution A G intron_variant LINC-JP 12 62803086 62803086 single base substitution A G downstream_gene_variant LINC-JP 12 62803086 62803086 single base substitution A G intron_variant LINC-JP 12 62803862 62803862 single base substitution A G downstream_gene_variant LINC-JP 12 62803862 62803862 single base substitution A G intron_variant LINC-JP 12 62806660 62806660 single base substitution T C intron_variant LINC-JP 12 62807524 62807524 single base substitution A G intron_variant LIRI-JP 12 62649486 62649486 single base substitution T A upstream_gene_variant LIRI-JP 12 62653800 62653800 single base substitution A C upstream_gene_variant LIRI-JP 12 62655121 62655121 single base substitution A T intron_variant LIRI-JP 12 62655362 62655362 single base substitution A T intron_variant LIRI-JP 12 62656160 62656160 single base substitution A C intron_variant LIRI-JP 12 62656885 62656885 single base substitution T G intron_variant LIRI-JP 12 62659228 62659228 single base substitution A C intron_variant LIRI-JP 12 62659913 62659913 single base substitution G A intron_variant LIRI-JP 12 62659989 62659989 single base substitution C A intron_variant LIRI-JP 12 62661946 62661946 single base substitution A G intron_variant LIRI-JP 12 62662559 62662559 single base substitution A G intron_variant LIRI-JP 12 62662950 62662950 single base substitution G A intron_variant LIRI-JP 12 62663088 62663088 single base substitution C G intron_variant LIRI-JP 12 62663600 62663600 single base substitution T C intron_variant LIRI-JP 12 62670227 62670227 single base substitution C T intron_variant LIRI-JP 12 62670227 62670227 single base substitution C T upstream_gene_variant LIRI-JP 12 62670665 62670665 single base substitution G A intron_variant LIRI-JP 12 62670665 62670665 single base substitution G A upstream_gene_variant LIRI-JP 12 62670668 62670668 single base substitution T G intron_variant LIRI-JP 12 62670668 62670668 single base substitution T G upstream_gene_variant LIRI-JP 12 62670864 62670864 single base substitution A G intron_variant LIRI-JP 12 62670864 62670864 single base substitution A G upstream_gene_variant LIRI-JP 12 62671236 62671236 single base substitution A G intron_variant LIRI-JP 12 62671236 62671236 single base substitution A G upstream_gene_variant LIRI-JP 12 62673105 62673105 single base substitution G T intron_variant LIRI-JP 12 62673202 62673202 single base substitution A G intron_variant LIRI-JP 12 62673367 62673367 single base substitution A G intron_variant LIRI-JP 12 62675265 62675265 single base substitution A G intron_variant LIRI-JP 12 62676841 62676841 single base substitution A G intron_variant LIRI-JP 12 62677053 62677053 single base substitution C G intron_variant LIRI-JP 12 62678096 62678096 single base substitution A G intron_variant LIRI-JP 12 62679446 62679446 single base substitution T G intron_variant LIRI-JP 12 62680095 62680095 single base substitution C A intron_variant LIRI-JP 12 62682617 62682617 single base substitution A G intron_variant LIRI-JP 12 62683333 62683333 single base substitution C G intron_variant LIRI-JP 12 62684199 62684199 single base substitution A G intron_variant LIRI-JP 12 62684604 62684604 single base substitution A G intron_variant LIRI-JP 12 62685540 62685540 single base substitution A G intron_variant LIRI-JP 12 62686283 62686283 single base substitution G T intron_variant LIRI-JP 12 62687200 62687200 single base substitution C T intron_variant LIRI-JP 12 62687722 62687722 single base substitution A G intron_variant LIRI-JP 12 62687781 62687781 single base substitution A G intron_variant LIRI-JP 12 62688190 62688190 single base substitution A C exon_variant LIRI-JP 12 62688190 62688190 single base substitution A C intron_variant LIRI-JP 12 62689447 62689447 single base substitution A G downstream_gene_variant LIRI-JP 12 62689447 62689447 single base substitution A G intron_variant LIRI-JP 12 62690446 62690446 single base substitution T A downstream_gene_variant LIRI-JP 12 62690446 62690446 single base substitution T A intron_variant LIRI-JP 12 62692077 62692077 single base substitution G T downstream_gene_variant LIRI-JP 12 62692077 62692077 single base substitution G T intron_variant LIRI-JP 12 62696705 62696705 single base substitution C T exon_variant LIRI-JP 12 62696705 62696705 single base substitution C T splice_region_variant LIRI-JP 12 62696705 62696705 single base substitution C T upstream_gene_variant LIRI-JP 12 62696829 62696829 single base substitution C G exon_variant LIRI-JP 12 62696829 62696829 single base substitution C G intron_variant LIRI-JP 12 62696829 62696829 single base substitution C G upstream_gene_variant LIRI-JP 12 62697013 62697013 single base substitution T C exon_variant LIRI-JP 12 62697013 62697013 single base substitution T C intron_variant LIRI-JP 12 62697013 62697013 single base substitution T C upstream_gene_variant LIRI-JP 12 62697756 62697756 single base substitution G A downstream_gene_variant LIRI-JP 12 62697756 62697756 single base substitution G A intron_variant LIRI-JP 12 62697756 62697756 single base substitution G A upstream_gene_variant LIRI-JP 12 62697893 62697893 single base substitution A G downstream_gene_variant LIRI-JP 12 62697893 62697893 single base substitution A G intron_variant LIRI-JP 12 62697893 62697893 single base substitution A G upstream_gene_variant LIRI-JP 12 62698044 62698044 single base substitution A G downstream_gene_variant LIRI-JP 12 62698044 62698044 single base substitution A G intron_variant LIRI-JP 12 62698044 62698044 single base substitution A G upstream_gene_variant LIRI-JP 12 62698470 62698470 single base substitution A G downstream_gene_variant LIRI-JP 12 62698470 62698470 single base substitution A G exon_variant LIRI-JP 12 62698470 62698470 single base substitution A G intron_variant LIRI-JP 12 62698470 62698470 single base substitution A G upstream_gene_variant LIRI-JP 12 62699716 62699716 single base substitution A G 5_prime_UTR_variant LIRI-JP 12 62699716 62699716 single base substitution A G downstream_gene_variant LIRI-JP 12 62699716 62699716 single base substitution A G intron_variant LIRI-JP 12 62699994 62699994 single base substitution G T downstream_gene_variant LIRI-JP 12 62699994 62699994 single base substitution G T intron_variant LIRI-JP 12 62703728 62703728 single base substitution A C intron_variant LIRI-JP 12 62704780 62704780 single base substitution A G intron_variant LIRI-JP 12 62704895 62704895 single base substitution A G intron_variant LIRI-JP 12 62705490 62705490 single base substitution G A intron_variant LIRI-JP 12 62705782 62705782 single base substitution A G intron_variant LIRI-JP 12 62706864 62706864 single base substitution A C intron_variant LIRI-JP 12 62709087 62709087 single base substitution G C downstream_gene_variant LIRI-JP 12 62709087 62709087 single base substitution G C intron_variant LIRI-JP 12 62710165 62710165 single base substitution A G downstream_gene_variant LIRI-JP 12 62710165 62710165 single base substitution A G intron_variant LIRI-JP 12 62711460 62711460 single base substitution A G downstream_gene_variant LIRI-JP 12 62711460 62711460 single base substitution A G intron_variant LIRI-JP 12 62711460 62711460 single base substitution A G upstream_gene_variant LIRI-JP 12 62712005 62712005 single base substitution A C downstream_gene_variant LIRI-JP 12 62712005 62712005 single base substitution A C intron_variant LIRI-JP 12 62712005 62712005 single base substitution A C upstream_gene_variant LIRI-JP 12 62712858 62712858 single base substitution G C downstream_gene_variant LIRI-JP 12 62712858 62712858 single base substitution G C intron_variant LIRI-JP 12 62712858 62712858 single base substitution G C upstream_gene_variant LIRI-JP 12 62713577 62713577 single base substitution A C downstream_gene_variant LIRI-JP 12 62713577 62713577 single base substitution A C intron_variant LIRI-JP 12 62713577 62713577 single base substitution A C upstream_gene_variant LIRI-JP 12 62714547 62714547 single base substitution A G intron_variant LIRI-JP 12 62714547 62714547 single base substitution A G upstream_gene_variant LIRI-JP 12 62716278 62716278 single base substitution T A downstream_gene_variant LIRI-JP 12 62716278 62716278 single base substitution T A intron_variant LIRI-JP 12 62716285 62716285 single base substitution A G downstream_gene_variant LIRI-JP 12 62716285 62716285 single base substitution A G intron_variant LIRI-JP 12 62716564 62716564 single base substitution C T downstream_gene_variant LIRI-JP 12 62716564 62716564 single base substitution C T intron_variant LIRI-JP 12 62716663 62716663 single base substitution A G downstream_gene_variant LIRI-JP 12 62716663 62716663 single base substitution A G intron_variant LIRI-JP 12 62718344 62718344 single base substitution G A downstream_gene_variant LIRI-JP 12 62718344 62718344 single base substitution G A intron_variant LIRI-JP 12 62718762 62718762 single base substitution C T downstream_gene_variant LIRI-JP 12 62718762 62718762 single base substitution C T intron_variant LIRI-JP 12 62722127 62722127 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 62722127 62722127 single base substitution A G downstream_gene_variant LIRI-JP 12 62722127 62722127 single base substitution A G intron_variant LIRI-JP 12 62723707 62723707 single base substitution A G downstream_gene_variant LIRI-JP 12 62723707 62723707 single base substitution A G intron_variant LIRI-JP 12 62724423 62724423 single base substitution T G downstream_gene_variant LIRI-JP 12 62724423 62724423 single base substitution T G intron_variant LIRI-JP 12 62726053 62726053 single base substitution G A downstream_gene_variant LIRI-JP 12 62726053 62726053 single base substitution G A intron_variant LIRI-JP 12 62726205 62726205 single base substitution A G downstream_gene_variant LIRI-JP 12 62726205 62726205 single base substitution A G intron_variant LIRI-JP 12 62727999 62727999 single base substitution T C intron_variant LIRI-JP 12 62729315 62729315 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 62729315 62729315 single base substitution A G downstream_gene_variant LIRI-JP 12 62729315 62729315 single base substitution A G intron_variant LIRI-JP 12 62729550 62729550 single base substitution C G 3_prime_UTR_variant LIRI-JP 12 62729550 62729550 single base substitution C G downstream_gene_variant LIRI-JP 12 62729550 62729550 single base substitution C G intron_variant LIRI-JP 12 62729829 62729829 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 62729829 62729829 single base substitution C A downstream_gene_variant LIRI-JP 12 62729829 62729829 single base substitution C A intron_variant LIRI-JP 12 62730829 62730829 single base substitution C G downstream_gene_variant LIRI-JP 12 62730829 62730829 single base substitution C G intron_variant LIRI-JP 12 62730963 62730963 single base substitution A G downstream_gene_variant LIRI-JP 12 62730963 62730963 single base substitution A G intron_variant LIRI-JP 12 62731609 62731609 single base substitution T A downstream_gene_variant LIRI-JP 12 62731609 62731609 single base substitution T A intron_variant LIRI-JP 12 62734698 62734698 single base substitution C T downstream_gene_variant LIRI-JP 12 62734698 62734698 single base substitution C T intron_variant LIRI-JP 12 62735804 62735804 single base substitution C T intron_variant LIRI-JP 12 62739873 62739873 single base substitution A T intron_variant LIRI-JP 12 62740551 62740551 single base substitution A G intron_variant LIRI-JP 12 62742603 62742603 single base substitution G T intron_variant LIRI-JP 12 62743674 62743674 single base substitution A G intron_variant LIRI-JP 12 62744549 62744549 single base substitution A T intron_variant LIRI-JP 12 62744549 62744549 single base substitution A T upstream_gene_variant LIRI-JP 12 62745158 62745158 single base substitution A G intron_variant LIRI-JP 12 62745158 62745158 single base substitution A G upstream_gene_variant LIRI-JP 12 62745442 62745442 single base substitution C G intron_variant LIRI-JP 12 62745442 62745442 single base substitution C G upstream_gene_variant LIRI-JP 12 62746666 62746666 single base substitution A G intron_variant LIRI-JP 12 62746666 62746666 single base substitution A G upstream_gene_variant LIRI-JP 12 62746695 62746695 single base substitution T C intron_variant LIRI-JP 12 62746695 62746695 single base substitution T C upstream_gene_variant LIRI-JP 12 62747108 62747108 single base substitution A G intron_variant LIRI-JP 12 62747108 62747108 single base substitution A G upstream_gene_variant LIRI-JP 12 62750827 62750828 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 12 62750827 62750828 deletion of <=200bp AG - intron_variant LIRI-JP 12 62751063 62751063 single base substitution A G downstream_gene_variant LIRI-JP 12 62751063 62751063 single base substitution A G intron_variant LIRI-JP 12 62756443 62756443 single base substitution T G intron_variant LIRI-JP 12 62757666 62757666 single base substitution A G intron_variant LIRI-JP 12 62757889 62757889 single base substitution A G intron_variant LIRI-JP 12 62757996 62757996 single base substitution A G intron_variant LIRI-JP 12 62758023 62758023 single base substitution G C intron_variant LIRI-JP 12 62758364 62758364 single base substitution T C intron_variant LIRI-JP 12 62759634 62759634 single base substitution A C intron_variant LIRI-JP 12 62761928 62761928 single base substitution A G intron_variant LIRI-JP 12 62762402 62762402 single base substitution C T intron_variant LIRI-JP 12 62762497 62762497 single base substitution G A intron_variant LIRI-JP 12 62765396 62765396 single base substitution C T intron_variant LIRI-JP 12 62767860 62767860 single base substitution T C intron_variant LIRI-JP 12 62769528 62769528 single base substitution T C intron_variant LIRI-JP 12 62770259 62770259 single base substitution T A intron_variant LIRI-JP 12 62772496 62772496 single base substitution A G intron_variant LIRI-JP 12 62773670 62773670 single base substitution C A intron_variant LIRI-JP 12 62775434 62775434 single base substitution G A downstream_gene_variant LIRI-JP 12 62775434 62775434 single base substitution G A exon_variant LIRI-JP 12 62775434 62775434 single base substitution G A missense_variant R331K 992G>A LIRI-JP 12 62775434 62775434 single base substitution G A missense_variant R335K 1004G>A LIRI-JP 12 62775434 62775434 single base substitution G A missense_variant R360K 1079G>A LIRI-JP 12 62775550 62775550 single base substitution C G downstream_gene_variant LIRI-JP 12 62775550 62775550 single base substitution C G intron_variant LIRI-JP 12 62783626 62783626 single base substitution C A exon_variant LIRI-JP 12 62783626 62783626 single base substitution C A missense_variant P539T 1615C>A LIRI-JP 12 62783626 62783626 single base substitution C A missense_variant P543T 1627C>A LIRI-JP 12 62783626 62783626 single base substitution C A missense_variant P568T 1702C>A LIRI-JP 12 62783626 62783626 single base substitution C A upstream_gene_variant LIRI-JP 12 62783698 62783698 single base substitution C T downstream_gene_variant LIRI-JP 12 62783698 62783698 single base substitution C T missense_variant P563S 1687C>T LIRI-JP 12 62783698 62783698 single base substitution C T missense_variant P567S 1699C>T LIRI-JP 12 62783698 62783698 single base substitution C T missense_variant P592S 1774C>T LIRI-JP 12 62783698 62783698 single base substitution C T upstream_gene_variant LIRI-JP 12 62786091 62786091 insertion of <=200bp - A downstream_gene_variant LIRI-JP 12 62786091 62786091 insertion of <=200bp - A frameshift_variant K753K? LIRI-JP 12 62786091 62786091 insertion of <=200bp - A frameshift_variant K757K? LIRI-JP 12 62786091 62786091 insertion of <=200bp - A frameshift_variant K782K? LIRI-JP 12 62786091 62786091 insertion of <=200bp - A upstream_gene_variant LIRI-JP 12 62787007 62787007 single base substitution G C downstream_gene_variant LIRI-JP 12 62787007 62787007 single base substitution G C intron_variant LIRI-JP 12 62787007 62787007 single base substitution G C upstream_gene_variant LIRI-JP 12 62787397 62787397 single base substitution T A downstream_gene_variant LIRI-JP 12 62787397 62787397 single base substitution T A intron_variant LIRI-JP 12 62787397 62787397 single base substitution T A upstream_gene_variant LIRI-JP 12 62790128 62790128 single base substitution A G exon_variant LIRI-JP 12 62790128 62790128 single base substitution A G intron_variant LIRI-JP 12 62790128 62790128 single base substitution A G missense_variant Y77C 230A>G LIRI-JP 12 62790128 62790128 single base substitution A G missense_variant Y846C 2537A>G LIRI-JP 12 62790128 62790128 single base substitution A G missense_variant Y850C 2549A>G LIRI-JP 12 62790128 62790128 single base substitution A G missense_variant Y875C 2624A>G LIRI-JP 12 62790128 62790128 single base substitution A G upstream_gene_variant LIRI-JP 12 62791967 62791967 single base substitution T G intron_variant LIRI-JP 12 62791967 62791967 single base substitution T G upstream_gene_variant LIRI-JP 12 62792715 62792715 deletion of <=200bp T - intron_variant LIRI-JP 12 62792715 62792715 deletion of <=200bp T - upstream_gene_variant LIRI-JP 12 62794180 62794180 single base substitution C G intron_variant LIRI-JP 12 62794180 62794180 single base substitution C G upstream_gene_variant LIRI-JP 12 62794294 62794294 single base substitution A G intron_variant LIRI-JP 12 62794294 62794294 single base substitution A G upstream_gene_variant LIRI-JP 12 62794915 62794915 deletion of <=200bp C - intron_variant LIRI-JP 12 62794915 62794915 deletion of <=200bp C - upstream_gene_variant LIRI-JP 12 62795875 62795875 single base substitution A G intron_variant LIRI-JP 12 62798891 62798891 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 62798891 62798891 single base substitution A G downstream_gene_variant LIRI-JP 12 62798891 62798891 single base substitution A G intron_variant LIRI-JP 12 62801920 62801920 single base substitution T A downstream_gene_variant LIRI-JP 12 62801920 62801920 single base substitution T A intron_variant LIRI-JP 12 62806724 62806724 single base substitution A G intron_variant LIRI-JP 12 62811019 62811019 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 62811328 62811328 single base substitution A G downstream_gene_variant LIRI-JP 12 62813245 62813245 single base substitution A G downstream_gene_variant LIRI-JP 12 62814022 62814022 single base substitution C T downstream_gene_variant LIRI-JP 12 62815986 62815986 single base substitution A T downstream_gene_variant LUSC-KR 12 62649839 62649839 single base substitution C A upstream_gene_variant LUSC-KR 12 62653523 62653523 single base substitution C T upstream_gene_variant LUSC-KR 12 62655011 62655011 single base substitution A T intron_variant LUSC-KR 12 62658303 62658303 single base substitution T C intron_variant LUSC-KR 12 62661046 62661046 single base substitution A G intron_variant LUSC-KR 12 62662894 62662894 single base substitution G C intron_variant LUSC-KR 12 62665730 62665730 single base substitution G A intron_variant LUSC-KR 12 62666282 62666282 single base substitution C T intron_variant LUSC-KR 12 62666780 62666780 single base substitution G A intron_variant LUSC-KR 12 62672796 62672796 single base substitution A T intron_variant LUSC-KR 12 62674524 62674524 single base substitution G A intron_variant LUSC-KR 12 62678963 62678963 single base substitution G T intron_variant LUSC-KR 12 62681167 62681167 single base substitution G T intron_variant LUSC-KR 12 62685945 62685945 single base substitution G T intron_variant LUSC-KR 12 62688667 62688667 single base substitution G T downstream_gene_variant LUSC-KR 12 62688667 62688667 single base substitution G T intron_variant LUSC-KR 12 62688988 62688988 single base substitution G T downstream_gene_variant LUSC-KR 12 62688988 62688988 single base substitution G T intron_variant LUSC-KR 12 62689450 62689450 single base substitution A G downstream_gene_variant LUSC-KR 12 62689450 62689450 single base substitution A G intron_variant LUSC-KR 12 62695325 62695325 single base substitution G A intron_variant LUSC-KR 12 62695325 62695325 single base substitution G A upstream_gene_variant LUSC-KR 12 62697527 62697527 single base substitution G T downstream_gene_variant LUSC-KR 12 62697527 62697527 single base substitution G T intron_variant LUSC-KR 12 62697527 62697527 single base substitution G T upstream_gene_variant LUSC-KR 12 62698935 62698935 single base substitution G T downstream_gene_variant LUSC-KR 12 62698935 62698935 single base substitution G T intron_variant LUSC-KR 12 62698935 62698935 single base substitution G T upstream_gene_variant LUSC-KR 12 62721412 62721412 single base substitution A T downstream_gene_variant LUSC-KR 12 62721412 62721412 single base substitution A T intron_variant LUSC-KR 12 62728856 62728856 single base substitution A T intron_variant LUSC-KR 12 62731751 62731751 single base substitution G T downstream_gene_variant LUSC-KR 12 62731751 62731751 single base substitution G T intron_variant LUSC-KR 12 62732967 62732967 single base substitution C T downstream_gene_variant LUSC-KR 12 62732967 62732967 single base substitution C T intron_variant LUSC-KR 12 62733390 62733390 single base substitution T C downstream_gene_variant LUSC-KR 12 62733390 62733390 single base substitution T C intron_variant LUSC-KR 12 62736701 62736701 single base substitution G T intron_variant LUSC-KR 12 62739962 62739962 single base substitution T C intron_variant LUSC-KR 12 62740526 62740526 single base substitution G C intron_variant LUSC-KR 12 62743143 62743143 single base substitution C T intron_variant LUSC-KR 12 62745199 62745199 single base substitution G T intron_variant LUSC-KR 12 62745199 62745199 single base substitution G T upstream_gene_variant LUSC-KR 12 62746993 62746993 single base substitution A G intron_variant LUSC-KR 12 62746993 62746993 single base substitution A G upstream_gene_variant LUSC-KR 12 62749294 62749294 single base substitution G T downstream_gene_variant LUSC-KR 12 62749294 62749294 single base substitution G T intron_variant LUSC-KR 12 62750376 62750376 single base substitution G T downstream_gene_variant LUSC-KR 12 62750376 62750376 single base substitution G T intron_variant LUSC-KR 12 62750377 62750377 single base substitution G T downstream_gene_variant LUSC-KR 12 62750377 62750377 single base substitution G T intron_variant LUSC-KR 12 62755195 62755195 single base substitution A T intron_variant LUSC-KR 12 62765279 62765279 single base substitution G A intron_variant LUSC-KR 12 62765919 62765919 single base substitution G C intron_variant LUSC-KR 12 62775404 62775404 single base substitution G T exon_variant LUSC-KR 12 62775404 62775404 single base substitution G T missense_variant W321L 962G>T LUSC-KR 12 62775404 62775404 single base substitution G T missense_variant W325L 974G>T LUSC-KR 12 62775404 62775404 single base substitution G T missense_variant W350L 1049G>T LUSC-KR 12 62775405 62775405 single base substitution G T exon_variant LUSC-KR 12 62775405 62775405 single base substitution G T missense_variant W321C 963G>T LUSC-KR 12 62775405 62775405 single base substitution G T missense_variant W325C 975G>T LUSC-KR 12 62775405 62775405 single base substitution G T missense_variant W350C 1050G>T LUSC-KR 12 62778435 62778435 single base substitution A G downstream_gene_variant LUSC-KR 12 62778435 62778435 single base substitution A G intron_variant LUSC-KR 12 62791764 62791764 single base substitution T G intron_variant LUSC-KR 12 62791764 62791764 single base substitution T G upstream_gene_variant LUSC-KR 12 62792624 62792624 single base substitution G C intron_variant LUSC-KR 12 62792624 62792624 single base substitution G C upstream_gene_variant LUSC-KR 12 62795044 62795044 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 62795044 62795044 single base substitution G A exon_variant LUSC-KR 12 62795044 62795044 single base substitution G A missense_variant D120N 358G>A LUSC-KR 12 62795044 62795044 single base substitution G A missense_variant D889N 2665G>A LUSC-KR 12 62795044 62795044 single base substitution G A missense_variant D893N 2677G>A LUSC-KR 12 62795044 62795044 single base substitution G A missense_variant D918N 2752G>A LUSC-KR 12 62795939 62795939 single base substitution G T intron_variant LUSC-KR 12 62795947 62795947 single base substitution A G intron_variant LUSC-KR 12 62796137 62796137 single base substitution G T intron_variant LUSC-KR 12 62797653 62797653 single base substitution A T intron_variant LUSC-KR 12 62805629 62805629 single base substitution A G intron_variant LUSC-KR 12 62808080 62808080 single base substitution G C intron_variant LUSC-KR 12 62814321 62814321 single base substitution G C downstream_gene_variant LUSC-US 12 62708619 62708619 single base substitution C G exon_variant LUSC-US 12 62708619 62708619 single base substitution C G missense_variant L128V 382C>G LUSC-US 12 62708619 62708619 single base substitution C G missense_variant L12V 34C>G LUSC-US 12 62708619 62708619 single base substitution C G missense_variant L133V 397C>G LUSC-US 12 62708619 62708619 single base substitution C G missense_variant L141V 421C>G LUSC-US 12 62708619 62708619 single base substitution C G missense_variant L79V 235C>G LUSC-US 12 62749201 62749201 single base substitution G T downstream_gene_variant LUSC-US 12 62749201 62749201 single base substitution G T exon_variant LUSC-US 12 62749201 62749201 single base substitution G T missense_variant G258V 773G>T LUSC-US 12 62749201 62749201 single base substitution G T missense_variant G262V 785G>T LUSC-US 12 62749201 62749201 single base substitution G T missense_variant G287V 860G>T LUSC-US 12 62749201 62749201 single base substitution G T upstream_gene_variant LUSC-US 12 62785030 62785030 single base substitution G A downstream_gene_variant LUSC-US 12 62785030 62785030 single base substitution G A missense_variant G656E 1967G>A LUSC-US 12 62785030 62785030 single base substitution G A missense_variant G660E 1979G>A LUSC-US 12 62785030 62785030 single base substitution G A missense_variant G685E 2054G>A LUSC-US 12 62785030 62785030 single base substitution G A upstream_gene_variant LUSC-US 12 62786902 62786902 single base substitution A T downstream_gene_variant LUSC-US 12 62786902 62786902 single base substitution A T exon_variant LUSC-US 12 62786902 62786902 single base substitution A T synonymous_variant V32V 96A>T LUSC-US 12 62786902 62786902 single base substitution A T synonymous_variant V801V 2403A>T LUSC-US 12 62786902 62786902 single base substitution A T synonymous_variant V805V 2415A>T LUSC-US 12 62786902 62786902 single base substitution A T synonymous_variant V830V 2490A>T LUSC-US 12 62786902 62786902 single base substitution A T upstream_gene_variant LUSC-US 12 62790074 62790074 single base substitution G A exon_variant LUSC-US 12 62790074 62790074 single base substitution G A intron_variant LUSC-US 12 62790074 62790074 single base substitution G A splice_acceptor_variant LUSC-US 12 62790074 62790074 single base substitution G A upstream_gene_variant MALY-DE 12 62651080 62651080 single base substitution A C upstream_gene_variant MALY-DE 12 62652873 62652873 single base substitution T C upstream_gene_variant MALY-DE 12 62654327 62654327 single base substitution G A intron_variant MALY-DE 12 62661294 62661294 single base substitution G C intron_variant MALY-DE 12 62664385 62664385 single base substitution A G intron_variant MALY-DE 12 62704166 62704166 single base substitution C T intron_variant MALY-DE 12 62707305 62707305 single base substitution C T intron_variant MALY-DE 12 62707519 62707519 single base substitution A T intron_variant MALY-DE 12 62708018 62708018 single base substitution A C intron_variant MALY-DE 12 62710666 62710666 single base substitution G A downstream_gene_variant MALY-DE 12 62710666 62710666 single base substitution G A intron_variant MALY-DE 12 62710666 62710666 single base substitution G A upstream_gene_variant MALY-DE 12 62722475 62722475 single base substitution A G downstream_gene_variant MALY-DE 12 62722475 62722475 single base substitution A G intron_variant MALY-DE 12 62724238 62724238 single base substitution C T downstream_gene_variant MALY-DE 12 62724238 62724238 single base substitution C T intron_variant MALY-DE 12 62726873 62726873 single base substitution T A intron_variant MALY-DE 12 62726893 62726893 single base substitution C T intron_variant MALY-DE 12 62739507 62739507 single base substitution A C intron_variant MALY-DE 12 62740306 62740306 single base substitution A C intron_variant MALY-DE 12 62744016 62744016 single base substitution T G intron_variant MALY-DE 12 62744016 62744016 single base substitution T G upstream_gene_variant MALY-DE 12 62744017 62744017 single base substitution G T intron_variant MALY-DE 12 62744017 62744017 single base substitution G T upstream_gene_variant MALY-DE 12 62744083 62744083 single base substitution T A intron_variant MALY-DE 12 62744083 62744083 single base substitution T A upstream_gene_variant MALY-DE 12 62745462 62745462 single base substitution T A intron_variant MALY-DE 12 62745462 62745462 single base substitution T A upstream_gene_variant MALY-DE 12 62747115 62747115 single base substitution T A intron_variant MALY-DE 12 62747115 62747115 single base substitution T A upstream_gene_variant MALY-DE 12 62749146 62749146 single base substitution A G exon_variant MALY-DE 12 62749146 62749146 single base substitution A G missense_variant T240A 718A>G MALY-DE 12 62749146 62749146 single base substitution A G missense_variant T244A 730A>G MALY-DE 12 62749146 62749146 single base substitution A G missense_variant T269A 805A>G MALY-DE 12 62749146 62749146 single base substitution A G upstream_gene_variant MALY-DE 12 62764798 62764798 insertion of <=200bp - T intron_variant MALY-DE 12 62766059 62766059 single base substitution T A intron_variant MALY-DE 12 62769943 62769943 single base substitution G A intron_variant MALY-DE 12 62773031 62773031 single base substitution A G intron_variant MALY-DE 12 62773050 62773050 single base substitution A C intron_variant MALY-DE 12 62773058 62773058 single base substitution G C intron_variant MALY-DE 12 62781348 62781349 deletion of <=200bp AT - intron_variant MALY-DE 12 62781348 62781349 deletion of <=200bp AT - upstream_gene_variant MALY-DE 12 62784091 62784091 single base substitution C G downstream_gene_variant MALY-DE 12 62784091 62784091 single base substitution C G intron_variant MALY-DE 12 62784091 62784091 single base substitution C G upstream_gene_variant MALY-DE 12 62789192 62789192 single base substitution T A intron_variant MALY-DE 12 62789192 62789192 single base substitution T A upstream_gene_variant MALY-DE 12 62789244 62789244 single base substitution T C intron_variant MALY-DE 12 62789244 62789244 single base substitution T C upstream_gene_variant MALY-DE 12 62789444 62789444 single base substitution T C intron_variant MALY-DE 12 62789444 62789444 single base substitution T C upstream_gene_variant MALY-DE 12 62792267 62792267 single base substitution T C intron_variant MALY-DE 12 62792267 62792267 single base substitution T C upstream_gene_variant MALY-DE 12 62794198 62794198 single base substitution C G intron_variant MALY-DE 12 62794198 62794198 single base substitution C G upstream_gene_variant MALY-DE 12 62794239 62794239 single base substitution T C intron_variant MALY-DE 12 62794239 62794239 single base substitution T C upstream_gene_variant MALY-DE 12 62794625 62794625 single base substitution G C intron_variant MALY-DE 12 62794625 62794625 single base substitution G C upstream_gene_variant MALY-DE 12 62797824 62797824 single base substitution T C intron_variant MALY-DE 12 62798110 62798110 single base substitution T G 3_prime_UTR_variant MALY-DE 12 62798110 62798110 single base substitution T G exon_variant MALY-DE 12 62798110 62798110 single base substitution T G intron_variant MALY-DE 12 62798110 62798110 single base substitution T G missense_variant D938E 2814T>G MALY-DE 12 62798110 62798110 single base substitution T G missense_variant D942E 2826T>G MALY-DE 12 62798110 62798110 single base substitution T G missense_variant D967E 2901T>G MALY-DE 12 62799189 62799189 single base substitution A G 3_prime_UTR_variant MALY-DE 12 62799189 62799189 single base substitution A G downstream_gene_variant MALY-DE 12 62799189 62799189 single base substitution A G intron_variant MALY-DE 12 62800603 62800603 single base substitution G A downstream_gene_variant MALY-DE 12 62800603 62800603 single base substitution G A intron_variant MALY-DE 12 62806405 62806405 single base substitution T C intron_variant MALY-DE 12 62807391 62807391 single base substitution T C intron_variant MALY-DE 12 62807695 62807696 deletion of <=200bp GA - intron_variant MALY-DE 12 62811750 62811750 single base substitution A T downstream_gene_variant MALY-DE 12 62812837 62812837 single base substitution A T downstream_gene_variant MALY-DE 12 62813061 62813061 single base substitution G A downstream_gene_variant MALY-DE 12 62813081 62813081 single base substitution G T downstream_gene_variant MELA-AU 12 62649206 62649206 single base substitution C T upstream_gene_variant MELA-AU 12 62649754 62649754 single base substitution C T upstream_gene_variant MELA-AU 12 62650075 62650075 single base substitution G A upstream_gene_variant MELA-AU 12 62650788 62650788 single base substitution G A upstream_gene_variant MELA-AU 12 62650938 62650938 single base substitution T C upstream_gene_variant MELA-AU 12 62651883 62651883 single base substitution G A upstream_gene_variant MELA-AU 12 62653449 62653449 single base substitution C T upstream_gene_variant MELA-AU 12 62653554 62653554 single base substitution G A upstream_gene_variant MELA-AU 12 62653598 62653598 single base substitution G A upstream_gene_variant MELA-AU 12 62654078 62654078 single base substitution C T upstream_gene_variant MELA-AU 12 62655174 62655174 single base substitution C T intron_variant MELA-AU 12 62655205 62655205 single base substitution C T intron_variant MELA-AU 12 62655420 62655420 single base substitution A G intron_variant MELA-AU 12 62655619 62655619 single base substitution C T intron_variant MELA-AU 12 62655992 62655992 single base substitution C T intron_variant MELA-AU 12 62656035 62656035 single base substitution T G intron_variant MELA-AU 12 62656186 62656186 single base substitution C T intron_variant MELA-AU 12 62656356 62656356 single base substitution G A intron_variant MELA-AU 12 62656793 62656793 single base substitution G A intron_variant MELA-AU 12 62656959 62656959 single base substitution C T intron_variant MELA-AU 12 62656960 62656960 single base substitution C T intron_variant MELA-AU 12 62658263 62658263 single base substitution C T intron_variant MELA-AU 12 62658434 62658434 single base substitution C T intron_variant MELA-AU 12 62660620 62660620 single base substitution C T intron_variant MELA-AU 12 62661620 62661620 single base substitution C T intron_variant MELA-AU 12 62663823 62663823 single base substitution G A intron_variant MELA-AU 12 62664171 62664171 single base substitution C T intron_variant MELA-AU 12 62665138 62665138 single base substitution C T intron_variant MELA-AU 12 62665320 62665320 single base substitution C T intron_variant MELA-AU 12 62665451 62665451 single base substitution T C intron_variant MELA-AU 12 62666404 62666404 single base substitution C T intron_variant MELA-AU 12 62666921 62666921 single base substitution C T intron_variant MELA-AU 12 62666966 62666966 single base substitution T C intron_variant MELA-AU 12 62667915 62667915 single base substitution A G intron_variant MELA-AU 12 62667915 62667915 single base substitution A G upstream_gene_variant MELA-AU 12 62668509 62668509 single base substitution G A intron_variant MELA-AU 12 62668509 62668509 single base substitution G A upstream_gene_variant MELA-AU 12 62668892 62668892 single base substitution C T intron_variant MELA-AU 12 62668892 62668892 single base substitution C T upstream_gene_variant MELA-AU 12 62670805 62670805 single base substitution T A intron_variant MELA-AU 12 62670805 62670805 single base substitution T A upstream_gene_variant MELA-AU 12 62671046 62671046 single base substitution C T intron_variant MELA-AU 12 62671046 62671046 single base substitution C T upstream_gene_variant MELA-AU 12 62671907 62671907 single base substitution A T intron_variant MELA-AU 12 62671907 62671907 single base substitution A T upstream_gene_variant MELA-AU 12 62672673 62672673 single base substitution C T intron_variant MELA-AU 12 62673150 62673150 single base substitution C T intron_variant MELA-AU 12 62675346 62675346 single base substitution C T intron_variant MELA-AU 12 62675425 62675425 single base substitution C T intron_variant MELA-AU 12 62677018 62677018 single base substitution G A intron_variant MELA-AU 12 62677879 62677879 single base substitution T A intron_variant MELA-AU 12 62677900 62677900 single base substitution G C intron_variant MELA-AU 12 62678516 62678516 single base substitution G A intron_variant MELA-AU 12 62678623 62678623 single base substitution C A intron_variant MELA-AU 12 62678867 62678867 single base substitution T A intron_variant MELA-AU 12 62679337 62679337 single base substitution G C intron_variant MELA-AU 12 62679677 62679678 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 62679830 62679830 single base substitution C T intron_variant MELA-AU 12 62680117 62680117 single base substitution C T intron_variant MELA-AU 12 62682189 62682189 single base substitution C T intron_variant MELA-AU 12 62682262 62682262 single base substitution C T intron_variant MELA-AU 12 62682484 62682484 single base substitution C T intron_variant MELA-AU 12 62684847 62684848 multiple base substitution (>=2bp and <=200bp) AT TG intron_variant MELA-AU 12 62686087 62686087 single base substitution G C intron_variant MELA-AU 12 62686414 62686415 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 62686564 62686564 single base substitution T A intron_variant MELA-AU 12 62687260 62687260 single base substitution C T intron_variant MELA-AU 12 62687683 62687683 single base substitution C T intron_variant MELA-AU 12 62688001 62688001 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 62688001 62688001 single base substitution A T exon_variant MELA-AU 12 62688001 62688001 single base substitution A T missense_variant Y39F 116A>T MELA-AU 12 62688001 62688001 single base substitution A T missense_variant Y44F 131A>T MELA-AU 12 62688792 62688792 single base substitution C T downstream_gene_variant MELA-AU 12 62688792 62688792 single base substitution C T intron_variant MELA-AU 12 62689145 62689145 single base substitution C T downstream_gene_variant MELA-AU 12 62689145 62689145 single base substitution C T intron_variant MELA-AU 12 62690001 62690001 single base substitution C T downstream_gene_variant MELA-AU 12 62690001 62690001 single base substitution C T intron_variant MELA-AU 12 62690841 62690862 deletion of <=200bp TCCCAGGAAGGAAGGAGAGGAG - downstream_gene_variant MELA-AU 12 62690841 62690862 deletion of <=200bp TCCCAGGAAGGAAGGAGAGGAG - intron_variant MELA-AU 12 62692331 62692331 single base substitution C T downstream_gene_variant MELA-AU 12 62692331 62692331 single base substitution C T intron_variant MELA-AU 12 62693172 62693172 deletion of <=200bp G - downstream_gene_variant MELA-AU 12 62693172 62693172 deletion of <=200bp G - intron_variant MELA-AU 12 62693441 62693441 single base substitution C T intron_variant MELA-AU 12 62693494 62693494 single base substitution C T intron_variant MELA-AU 12 62695572 62695572 single base substitution T G intron_variant MELA-AU 12 62695572 62695572 single base substitution T G upstream_gene_variant MELA-AU 12 62696160 62696160 single base substitution G T intron_variant MELA-AU 12 62696160 62696160 single base substitution G T upstream_gene_variant MELA-AU 12 62696868 62696868 single base substitution T C exon_variant MELA-AU 12 62696868 62696868 single base substitution T C intron_variant MELA-AU 12 62696868 62696868 single base substitution T C upstream_gene_variant MELA-AU 12 62698183 62698183 single base substitution C T downstream_gene_variant MELA-AU 12 62698183 62698183 single base substitution C T intron_variant MELA-AU 12 62698183 62698183 single base substitution C T upstream_gene_variant MELA-AU 12 62698240 62698240 single base substitution C T downstream_gene_variant MELA-AU 12 62698240 62698240 single base substitution C T intron_variant MELA-AU 12 62698240 62698240 single base substitution C T upstream_gene_variant MELA-AU 12 62699004 62699004 single base substitution A G downstream_gene_variant MELA-AU 12 62699004 62699004 single base substitution A G intron_variant MELA-AU 12 62699004 62699004 single base substitution A G upstream_gene_variant MELA-AU 12 62699643 62699643 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 62699643 62699643 single base substitution C T downstream_gene_variant MELA-AU 12 62699643 62699643 single base substitution C T intron_variant MELA-AU 12 62699713 62699713 single base substitution C T 5_prime_UTR_variant MELA-AU 12 62699713 62699713 single base substitution C T downstream_gene_variant MELA-AU 12 62699713 62699713 single base substitution C T intron_variant MELA-AU 12 62700798 62700798 single base substitution C T downstream_gene_variant MELA-AU 12 62700798 62700798 single base substitution C T intron_variant MELA-AU 12 62701130 62701130 single base substitution C T downstream_gene_variant MELA-AU 12 62701130 62701130 single base substitution C T intron_variant MELA-AU 12 62701174 62701174 single base substitution C T downstream_gene_variant MELA-AU 12 62701174 62701174 single base substitution C T intron_variant MELA-AU 12 62701307 62701307 single base substitution C T downstream_gene_variant MELA-AU 12 62701307 62701307 single base substitution C T intron_variant MELA-AU 12 62701706 62701706 single base substitution T A downstream_gene_variant MELA-AU 12 62701706 62701706 single base substitution T A intron_variant MELA-AU 12 62702291 62702291 single base substitution C T downstream_gene_variant MELA-AU 12 62702291 62702291 single base substitution C T intron_variant MELA-AU 12 62702673 62702673 single base substitution C T downstream_gene_variant MELA-AU 12 62702673 62702673 single base substitution C T intron_variant MELA-AU 12 62703924 62703925 deletion of <=200bp TT - intron_variant MELA-AU 12 62704433 62704433 single base substitution C T intron_variant MELA-AU 12 62706549 62706549 single base substitution T C intron_variant MELA-AU 12 62708163 62708163 single base substitution C T intron_variant MELA-AU 12 62708739 62708739 single base substitution G A exon_variant MELA-AU 12 62708739 62708739 single base substitution G A intron_variant MELA-AU 12 62708912 62708912 single base substitution C T downstream_gene_variant MELA-AU 12 62708912 62708912 single base substitution C T intron_variant MELA-AU 12 62710207 62710207 single base substitution C T downstream_gene_variant MELA-AU 12 62710207 62710207 single base substitution C T intron_variant MELA-AU 12 62710330 62710330 single base substitution A G downstream_gene_variant MELA-AU 12 62710330 62710330 single base substitution A G intron_variant MELA-AU 12 62710330 62710330 single base substitution A G upstream_gene_variant MELA-AU 12 62710396 62710396 single base substitution T A downstream_gene_variant MELA-AU 12 62710396 62710396 single base substitution T A intron_variant MELA-AU 12 62710396 62710396 single base substitution T A upstream_gene_variant MELA-AU 12 62711010 62711010 single base substitution T A downstream_gene_variant MELA-AU 12 62711010 62711010 single base substitution T A intron_variant MELA-AU 12 62711010 62711010 single base substitution T A upstream_gene_variant MELA-AU 12 62711282 62711282 single base substitution C T downstream_gene_variant MELA-AU 12 62711282 62711282 single base substitution C T intron_variant MELA-AU 12 62711282 62711282 single base substitution C T upstream_gene_variant MELA-AU 12 62711598 62711598 single base substitution C T downstream_gene_variant MELA-AU 12 62711598 62711598 single base substitution C T intron_variant MELA-AU 12 62711598 62711598 single base substitution C T upstream_gene_variant MELA-AU 12 62711702 62711703 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 62711702 62711703 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 62711702 62711703 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 62712629 62712629 single base substitution T G downstream_gene_variant MELA-AU 12 62712629 62712629 single base substitution T G intron_variant MELA-AU 12 62712629 62712629 single base substitution T G upstream_gene_variant MELA-AU 12 62713212 62713212 single base substitution T G downstream_gene_variant MELA-AU 12 62713212 62713212 single base substitution T G intron_variant MELA-AU 12 62713212 62713212 single base substitution T G upstream_gene_variant MELA-AU 12 62714503 62714503 single base substitution C T intron_variant MELA-AU 12 62714503 62714503 single base substitution C T upstream_gene_variant MELA-AU 12 62714629 62714629 single base substitution C T intron_variant MELA-AU 12 62714629 62714629 single base substitution C T upstream_gene_variant MELA-AU 12 62715234 62715234 single base substitution C T intron_variant MELA-AU 12 62715234 62715234 single base substitution C T upstream_gene_variant MELA-AU 12 62715381 62715381 single base substitution C T downstream_gene_variant MELA-AU 12 62715381 62715381 single base substitution C T exon_variant MELA-AU 12 62715381 62715381 single base substitution C T synonymous_variant Y199Y 597C>T MELA-AU 12 62715381 62715381 single base substitution C T synonymous_variant Y204Y 612C>T MELA-AU 12 62715381 62715381 single base substitution C T synonymous_variant Y83Y 249C>T MELA-AU 12 62715597 62715597 single base substitution C T downstream_gene_variant MELA-AU 12 62715597 62715597 single base substitution C T intron_variant MELA-AU 12 62716524 62716524 single base substitution A G downstream_gene_variant MELA-AU 12 62716524 62716524 single base substitution A G intron_variant MELA-AU 12 62718399 62718399 single base substitution G A downstream_gene_variant MELA-AU 12 62718399 62718399 single base substitution G A intron_variant MELA-AU 12 62718693 62718693 single base substitution T C downstream_gene_variant MELA-AU 12 62718693 62718693 single base substitution T C intron_variant MELA-AU 12 62720107 62720107 single base substitution G A downstream_gene_variant MELA-AU 12 62720107 62720107 single base substitution G A intron_variant MELA-AU 12 62720153 62720153 single base substitution T C downstream_gene_variant MELA-AU 12 62720153 62720153 single base substitution T C intron_variant MELA-AU 12 62720490 62720494 deletion of <=200bp ATGTT - downstream_gene_variant MELA-AU 12 62720490 62720494 deletion of <=200bp ATGTT - intron_variant MELA-AU 12 62720977 62720977 single base substitution C T downstream_gene_variant MELA-AU 12 62720977 62720977 single base substitution C T intron_variant MELA-AU 12 62721006 62721006 single base substitution T C downstream_gene_variant MELA-AU 12 62721006 62721006 single base substitution T C intron_variant MELA-AU 12 62721667 62721667 single base substitution C T downstream_gene_variant MELA-AU 12 62721667 62721667 single base substitution C T intron_variant MELA-AU 12 62721673 62721673 single base substitution C T downstream_gene_variant MELA-AU 12 62721673 62721673 single base substitution C T intron_variant MELA-AU 12 62721790 62721790 single base substitution A G downstream_gene_variant MELA-AU 12 62721790 62721790 single base substitution A G intron_variant MELA-AU 12 62723329 62723329 single base substitution C T downstream_gene_variant MELA-AU 12 62723329 62723329 single base substitution C T intron_variant MELA-AU 12 62723843 62723843 single base substitution T C downstream_gene_variant MELA-AU 12 62723843 62723843 single base substitution T C intron_variant MELA-AU 12 62723940 62723940 single base substitution C T downstream_gene_variant MELA-AU 12 62723940 62723940 single base substitution C T intron_variant MELA-AU 12 62724529 62724529 single base substitution C T downstream_gene_variant MELA-AU 12 62724529 62724529 single base substitution C T intron_variant MELA-AU 12 62724882 62724882 single base substitution A G downstream_gene_variant MELA-AU 12 62724882 62724882 single base substitution A G intron_variant MELA-AU 12 62725241 62725242 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 62725241 62725242 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 62725774 62725774 single base substitution C T downstream_gene_variant MELA-AU 12 62725774 62725774 single base substitution C T intron_variant MELA-AU 12 62726272 62726272 single base substitution C T downstream_gene_variant MELA-AU 12 62726272 62726272 single base substitution C T intron_variant MELA-AU 12 62727410 62727410 single base substitution C T intron_variant MELA-AU 12 62729282 62729282 single base substitution C T 3_prime_UTR_variant MELA-AU 12 62729282 62729282 single base substitution C T downstream_gene_variant MELA-AU 12 62729282 62729282 single base substitution C T intron_variant MELA-AU 12 62729480 62729480 single base substitution C T 3_prime_UTR_variant MELA-AU 12 62729480 62729480 single base substitution C T downstream_gene_variant MELA-AU 12 62729480 62729480 single base substitution C T intron_variant MELA-AU 12 62729575 62729575 single base substitution T A 3_prime_UTR_variant MELA-AU 12 62729575 62729575 single base substitution T A downstream_gene_variant MELA-AU 12 62729575 62729575 single base substitution T A intron_variant MELA-AU 12 62730352 62730352 single base substitution G A 3_prime_UTR_variant MELA-AU 12 62730352 62730352 single base substitution G A downstream_gene_variant MELA-AU 12 62730352 62730352 single base substitution G A intron_variant MELA-AU 12 62730772 62730772 single base substitution C T downstream_gene_variant MELA-AU 12 62730772 62730772 single base substitution C T intron_variant MELA-AU 12 62731432 62731432 single base substitution C T downstream_gene_variant MELA-AU 12 62731432 62731432 single base substitution C T intron_variant MELA-AU 12 62731760 62731760 single base substitution C T downstream_gene_variant MELA-AU 12 62731760 62731760 single base substitution C T intron_variant MELA-AU 12 62731894 62731894 single base substitution C T downstream_gene_variant MELA-AU 12 62731894 62731894 single base substitution C T intron_variant MELA-AU 12 62732921 62732921 single base substitution C T downstream_gene_variant MELA-AU 12 62732921 62732921 single base substitution C T intron_variant MELA-AU 12 62733019 62733019 single base substitution T A downstream_gene_variant MELA-AU 12 62733019 62733019 single base substitution T A intron_variant MELA-AU 12 62733350 62733350 single base substitution A G downstream_gene_variant MELA-AU 12 62733350 62733350 single base substitution A G intron_variant MELA-AU 12 62733503 62733503 single base substitution C T downstream_gene_variant MELA-AU 12 62733503 62733503 single base substitution C T intron_variant MELA-AU 12 62733525 62733525 single base substitution C T downstream_gene_variant MELA-AU 12 62733525 62733525 single base substitution C T intron_variant MELA-AU 12 62733627 62733627 single base substitution C T downstream_gene_variant MELA-AU 12 62733627 62733627 single base substitution C T intron_variant MELA-AU 12 62733678 62733678 single base substitution C T downstream_gene_variant MELA-AU 12 62733678 62733678 single base substitution C T intron_variant MELA-AU 12 62733750 62733750 single base substitution C T downstream_gene_variant MELA-AU 12 62733750 62733750 single base substitution C T intron_variant MELA-AU 12 62734321 62734321 single base substitution C T downstream_gene_variant MELA-AU 12 62734321 62734321 single base substitution C T intron_variant MELA-AU 12 62735290 62735290 single base substitution G C downstream_gene_variant MELA-AU 12 62735290 62735290 single base substitution G C intron_variant MELA-AU 12 62735686 62735686 single base substitution C T intron_variant MELA-AU 12 62736397 62736397 single base substitution T C intron_variant MELA-AU 12 62736887 62736887 single base substitution T G intron_variant MELA-AU 12 62737040 62737040 single base substitution C T intron_variant MELA-AU 12 62737058 62737058 single base substitution C T intron_variant MELA-AU 12 62737074 62737074 single base substitution C T intron_variant MELA-AU 12 62737437 62737437 single base substitution C T intron_variant MELA-AU 12 62737636 62737636 single base substitution C T intron_variant MELA-AU 12 62738574 62738574 single base substitution C T intron_variant MELA-AU 12 62738594 62738594 single base substitution T A intron_variant MELA-AU 12 62738650 62738650 single base substitution C T intron_variant MELA-AU 12 62738825 62738825 single base substitution G A intron_variant MELA-AU 12 62738961 62738961 single base substitution C T intron_variant MELA-AU 12 62739250 62739250 single base substitution C T intron_variant MELA-AU 12 62739506 62739506 single base substitution T C intron_variant MELA-AU 12 62739627 62739627 single base substitution C T intron_variant MELA-AU 12 62739698 62739698 single base substitution C T intron_variant MELA-AU 12 62741762 62741762 single base substitution C T intron_variant MELA-AU 12 62742485 62742486 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 12 62743038 62743038 single base substitution G A intron_variant MELA-AU 12 62743038 62743038 single base substitution G A synonymous_variant K240K 720G>A MELA-AU 12 62743302 62743302 single base substitution T C intron_variant MELA-AU 12 62743519 62743519 single base substitution A T intron_variant MELA-AU 12 62744314 62744314 single base substitution A T intron_variant MELA-AU 12 62744314 62744314 single base substitution A T upstream_gene_variant MELA-AU 12 62744408 62744408 single base substitution G A intron_variant MELA-AU 12 62744408 62744408 single base substitution G A upstream_gene_variant MELA-AU 12 62745183 62745185 deletion of <=200bp TTT - intron_variant MELA-AU 12 62745183 62745185 deletion of <=200bp TTT - upstream_gene_variant MELA-AU 12 62745380 62745380 single base substitution C T intron_variant MELA-AU 12 62745380 62745380 single base substitution C T upstream_gene_variant MELA-AU 12 62745661 62745661 single base substitution G A intron_variant MELA-AU 12 62745661 62745661 single base substitution G A upstream_gene_variant MELA-AU 12 62747459 62747459 single base substitution C T intron_variant MELA-AU 12 62747459 62747459 single base substitution C T upstream_gene_variant MELA-AU 12 62747696 62747696 single base substitution T C intron_variant MELA-AU 12 62747696 62747696 single base substitution T C upstream_gene_variant MELA-AU 12 62747710 62747710 single base substitution T A intron_variant MELA-AU 12 62747710 62747710 single base substitution T A upstream_gene_variant MELA-AU 12 62748294 62748294 single base substitution C T intron_variant MELA-AU 12 62748294 62748294 single base substitution C T upstream_gene_variant MELA-AU 12 62749478 62749478 single base substitution T C downstream_gene_variant MELA-AU 12 62749478 62749478 single base substitution T C intron_variant MELA-AU 12 62749487 62749487 single base substitution A G downstream_gene_variant MELA-AU 12 62749487 62749487 single base substitution A G intron_variant MELA-AU 12 62749748 62749748 single base substitution C T downstream_gene_variant MELA-AU 12 62749748 62749748 single base substitution C T intron_variant MELA-AU 12 62749749 62749749 single base substitution C T downstream_gene_variant MELA-AU 12 62749749 62749749 single base substitution C T intron_variant MELA-AU 12 62749770 62749770 single base substitution C T downstream_gene_variant MELA-AU 12 62749770 62749770 single base substitution C T intron_variant MELA-AU 12 62749990 62749990 single base substitution C T downstream_gene_variant MELA-AU 12 62749990 62749990 single base substitution C T intron_variant MELA-AU 12 62750454 62750454 single base substitution A G downstream_gene_variant MELA-AU 12 62750454 62750454 single base substitution A G intron_variant MELA-AU 12 62751240 62751240 single base substitution C T downstream_gene_variant MELA-AU 12 62751240 62751240 single base substitution C T intron_variant MELA-AU 12 62752154 62752154 single base substitution C T downstream_gene_variant MELA-AU 12 62752154 62752154 single base substitution C T intron_variant MELA-AU 12 62752411 62752411 single base substitution C T downstream_gene_variant MELA-AU 12 62752411 62752411 single base substitution C T intron_variant MELA-AU 12 62753006 62753006 single base substitution C T downstream_gene_variant MELA-AU 12 62753006 62753006 single base substitution C T intron_variant MELA-AU 12 62753406 62753406 single base substitution C T downstream_gene_variant MELA-AU 12 62753406 62753406 single base substitution C T intron_variant MELA-AU 12 62753722 62753722 single base substitution C T downstream_gene_variant MELA-AU 12 62753722 62753722 single base substitution C T intron_variant MELA-AU 12 62753875 62753875 single base substitution C T downstream_gene_variant MELA-AU 12 62753875 62753875 single base substitution C T intron_variant MELA-AU 12 62754329 62754330 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 12 62754728 62754728 single base substitution C T intron_variant MELA-AU 12 62754830 62754830 single base substitution G A intron_variant MELA-AU 12 62755111 62755111 single base substitution C T intron_variant MELA-AU 12 62755405 62755405 single base substitution C T intron_variant MELA-AU 12 62755877 62755877 single base substitution A T intron_variant MELA-AU 12 62755910 62755910 single base substitution C T intron_variant MELA-AU 12 62756961 62756961 single base substitution C T intron_variant MELA-AU 12 62757175 62757175 single base substitution C T intron_variant MELA-AU 12 62757441 62757441 single base substitution C T intron_variant MELA-AU 12 62757474 62757474 single base substitution C T intron_variant MELA-AU 12 62758021 62758021 single base substitution T C intron_variant MELA-AU 12 62758606 62758606 single base substitution T G intron_variant MELA-AU 12 62758897 62758897 single base substitution C T intron_variant MELA-AU 12 62759234 62759234 single base substitution C T intron_variant MELA-AU 12 62759832 62759832 single base substitution C T intron_variant MELA-AU 12 62759952 62759952 single base substitution C T intron_variant MELA-AU 12 62760204 62760204 single base substitution T C intron_variant MELA-AU 12 62760754 62760754 single base substitution C T intron_variant MELA-AU 12 62760766 62760766 single base substitution C T intron_variant MELA-AU 12 62760773 62760773 single base substitution G A intron_variant MELA-AU 12 62760792 62760792 single base substitution C T intron_variant MELA-AU 12 62761122 62761122 single base substitution C T intron_variant MELA-AU 12 62761161 62761161 single base substitution C T intron_variant MELA-AU 12 62761422 62761422 single base substitution G C intron_variant MELA-AU 12 62761525 62761525 single base substitution C T intron_variant MELA-AU 12 62761589 62761589 single base substitution C T intron_variant MELA-AU 12 62762142 62762142 single base substitution C T intron_variant MELA-AU 12 62763412 62763412 single base substitution A G intron_variant MELA-AU 12 62763729 62763729 single base substitution C T intron_variant MELA-AU 12 62763787 62763787 single base substitution C T intron_variant MELA-AU 12 62764100 62764100 single base substitution G A intron_variant MELA-AU 12 62764770 62764770 single base substitution T G intron_variant MELA-AU 12 62765053 62765053 single base substitution C T intron_variant MELA-AU 12 62765356 62765356 single base substitution T A intron_variant MELA-AU 12 62765370 62765370 single base substitution T C intron_variant MELA-AU 12 62765712 62765712 single base substitution G A intron_variant MELA-AU 12 62766153 62766153 single base substitution C T intron_variant MELA-AU 12 62766489 62766489 single base substitution C T intron_variant MELA-AU 12 62766534 62766534 single base substitution C T intron_variant MELA-AU 12 62768377 62768377 single base substitution C T intron_variant MELA-AU 12 62768977 62768977 single base substitution C T intron_variant MELA-AU 12 62769028 62769028 single base substitution C T intron_variant MELA-AU 12 62769030 62769030 single base substitution T C intron_variant MELA-AU 12 62769071 62769071 single base substitution C T intron_variant MELA-AU 12 62769329 62769329 single base substitution G A intron_variant MELA-AU 12 62770180 62770180 single base substitution A G intron_variant MELA-AU 12 62770531 62770531 single base substitution C T intron_variant MELA-AU 12 62770905 62770905 single base substitution A G intron_variant MELA-AU 12 62771187 62771187 single base substitution T A intron_variant MELA-AU 12 62771670 62771670 single base substitution C T intron_variant MELA-AU 12 62772620 62772620 single base substitution C T intron_variant MELA-AU 12 62773847 62773847 single base substitution T C intron_variant MELA-AU 12 62773955 62773955 single base substitution C T intron_variant MELA-AU 12 62774165 62774165 single base substitution T C intron_variant MELA-AU 12 62775554 62775555 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 62775554 62775555 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 62776231 62776231 single base substitution C T downstream_gene_variant MELA-AU 12 62776231 62776231 single base substitution C T intron_variant MELA-AU 12 62776672 62776672 single base substitution C T downstream_gene_variant MELA-AU 12 62776672 62776672 single base substitution C T intron_variant MELA-AU 12 62778164 62778164 single base substitution C T downstream_gene_variant MELA-AU 12 62778164 62778164 single base substitution C T intron_variant MELA-AU 12 62778194 62778194 single base substitution C T downstream_gene_variant MELA-AU 12 62778194 62778194 single base substitution C T intron_variant MELA-AU 12 62778815 62778815 single base substitution C T downstream_gene_variant MELA-AU 12 62778815 62778815 single base substitution C T intron_variant MELA-AU 12 62779047 62779047 single base substitution C T downstream_gene_variant MELA-AU 12 62779047 62779047 single base substitution C T intron_variant MELA-AU 12 62779231 62779231 single base substitution C T downstream_gene_variant MELA-AU 12 62779231 62779231 single base substitution C T intron_variant MELA-AU 12 62779471 62779471 single base substitution C T downstream_gene_variant MELA-AU 12 62779471 62779471 single base substitution C T intron_variant MELA-AU 12 62779928 62779928 single base substitution C T downstream_gene_variant MELA-AU 12 62779928 62779928 single base substitution C T intron_variant MELA-AU 12 62779948 62779948 single base substitution G T downstream_gene_variant MELA-AU 12 62779948 62779948 single base substitution G T intron_variant MELA-AU 12 62780069 62780069 single base substitution C T downstream_gene_variant MELA-AU 12 62780069 62780069 single base substitution C T intron_variant MELA-AU 12 62780087 62780087 single base substitution C T downstream_gene_variant MELA-AU 12 62780087 62780087 single base substitution C T intron_variant MELA-AU 12 62781805 62781805 single base substitution C T intron_variant MELA-AU 12 62781805 62781805 single base substitution C T upstream_gene_variant MELA-AU 12 62782003 62782003 single base substitution C T intron_variant MELA-AU 12 62782003 62782003 single base substitution C T upstream_gene_variant MELA-AU 12 62782026 62782027 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 62782026 62782027 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 62782036 62782036 single base substitution C T intron_variant MELA-AU 12 62782036 62782036 single base substitution C T upstream_gene_variant MELA-AU 12 62782657 62782657 single base substitution C T intron_variant MELA-AU 12 62782657 62782657 single base substitution C T upstream_gene_variant MELA-AU 12 62782859 62782859 single base substitution C T intron_variant MELA-AU 12 62782859 62782859 single base substitution C T upstream_gene_variant MELA-AU 12 62783554 62783554 single base substitution T A intron_variant MELA-AU 12 62783554 62783554 single base substitution T A upstream_gene_variant MELA-AU 12 62783592 62783592 single base substitution C T exon_variant MELA-AU 12 62783592 62783592 single base substitution C T synonymous_variant I527I 1581C>T MELA-AU 12 62783592 62783592 single base substitution C T synonymous_variant I531I 1593C>T MELA-AU 12 62783592 62783592 single base substitution C T synonymous_variant I556I 1668C>T MELA-AU 12 62783592 62783592 single base substitution C T upstream_gene_variant MELA-AU 12 62783684 62783684 single base substitution C A downstream_gene_variant MELA-AU 12 62783684 62783684 single base substitution C A stop_gained S558* 1673C>A MELA-AU 12 62783684 62783684 single base substitution C A stop_gained S562* 1685C>A MELA-AU 12 62783684 62783684 single base substitution C A stop_gained S587* 1760C>A MELA-AU 12 62783684 62783684 single base substitution C A upstream_gene_variant MELA-AU 12 62784252 62784252 single base substitution T G downstream_gene_variant MELA-AU 12 62784252 62784252 single base substitution T G intron_variant MELA-AU 12 62784252 62784252 single base substitution T G upstream_gene_variant MELA-AU 12 62785223 62785223 insertion of <=200bp - A downstream_gene_variant MELA-AU 12 62785223 62785223 insertion of <=200bp - A intron_variant MELA-AU 12 62785223 62785223 insertion of <=200bp - A upstream_gene_variant MELA-AU 12 62786052 62786052 single base substitution G A downstream_gene_variant MELA-AU 12 62786052 62786052 single base substitution G A missense_variant D740N 2218G>A MELA-AU 12 62786052 62786052 single base substitution G A missense_variant D744N 2230G>A MELA-AU 12 62786052 62786052 single base substitution G A missense_variant D769N 2305G>A MELA-AU 12 62786052 62786052 single base substitution G A upstream_gene_variant MELA-AU 12 62786379 62786379 single base substitution C T downstream_gene_variant MELA-AU 12 62786379 62786379 single base substitution C T intron_variant MELA-AU 12 62786379 62786379 single base substitution C T upstream_gene_variant MELA-AU 12 62786695 62786695 single base substitution C T downstream_gene_variant MELA-AU 12 62786695 62786695 single base substitution C T intron_variant MELA-AU 12 62786695 62786695 single base substitution C T upstream_gene_variant MELA-AU 12 62787049 62787049 single base substitution T C downstream_gene_variant MELA-AU 12 62787049 62787049 single base substitution T C intron_variant MELA-AU 12 62787049 62787049 single base substitution T C upstream_gene_variant MELA-AU 12 62788056 62788056 single base substitution G A downstream_gene_variant MELA-AU 12 62788056 62788056 single base substitution G A intron_variant MELA-AU 12 62788056 62788056 single base substitution G A upstream_gene_variant MELA-AU 12 62788263 62788263 single base substitution G C downstream_gene_variant MELA-AU 12 62788263 62788263 single base substitution G C intron_variant MELA-AU 12 62788263 62788263 single base substitution G C upstream_gene_variant MELA-AU 12 62788377 62788377 single base substitution C T downstream_gene_variant MELA-AU 12 62788377 62788377 single base substitution C T intron_variant MELA-AU 12 62788377 62788377 single base substitution C T upstream_gene_variant MELA-AU 12 62788583 62788583 single base substitution C T downstream_gene_variant MELA-AU 12 62788583 62788583 single base substitution C T intron_variant MELA-AU 12 62788583 62788583 single base substitution C T upstream_gene_variant MELA-AU 12 62788625 62788626 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 62788625 62788626 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 62788625 62788626 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 62789267 62789267 single base substitution C T intron_variant MELA-AU 12 62789267 62789267 single base substitution C T upstream_gene_variant MELA-AU 12 62789446 62789446 single base substitution C T intron_variant MELA-AU 12 62789446 62789446 single base substitution C T upstream_gene_variant MELA-AU 12 62789509 62789509 single base substitution C T intron_variant MELA-AU 12 62789509 62789509 single base substitution C T upstream_gene_variant MELA-AU 12 62789525 62789525 single base substitution G A intron_variant MELA-AU 12 62789525 62789525 single base substitution G A upstream_gene_variant MELA-AU 12 62789581 62789581 single base substitution C T intron_variant MELA-AU 12 62789581 62789581 single base substitution C T upstream_gene_variant MELA-AU 12 62790679 62790679 single base substitution C T intron_variant MELA-AU 12 62790679 62790679 single base substitution C T upstream_gene_variant MELA-AU 12 62791131 62791131 single base substitution C T intron_variant MELA-AU 12 62791131 62791131 single base substitution C T upstream_gene_variant MELA-AU 12 62791202 62791202 single base substitution C T intron_variant MELA-AU 12 62791202 62791202 single base substitution C T upstream_gene_variant MELA-AU 12 62791375 62791375 single base substitution A T intron_variant MELA-AU 12 62791375 62791375 single base substitution A T upstream_gene_variant MELA-AU 12 62791440 62791440 single base substitution C T intron_variant MELA-AU 12 62791440 62791440 single base substitution C T upstream_gene_variant MELA-AU 12 62791520 62791520 single base substitution C T intron_variant MELA-AU 12 62791520 62791520 single base substitution C T upstream_gene_variant MELA-AU 12 62792106 62792106 single base substitution C T intron_variant MELA-AU 12 62792106 62792106 single base substitution C T upstream_gene_variant MELA-AU 12 62792673 62792673 single base substitution C T intron_variant MELA-AU 12 62792673 62792673 single base substitution C T upstream_gene_variant MELA-AU 12 62792788 62792788 single base substitution T C intron_variant MELA-AU 12 62792788 62792788 single base substitution T C upstream_gene_variant MELA-AU 12 62792989 62792989 single base substitution T C intron_variant MELA-AU 12 62792989 62792989 single base substitution T C upstream_gene_variant MELA-AU 12 62793310 62793310 single base substitution T A intron_variant MELA-AU 12 62793310 62793310 single base substitution T A upstream_gene_variant MELA-AU 12 62793610 62793610 single base substitution C T intron_variant MELA-AU 12 62793610 62793610 single base substitution C T upstream_gene_variant MELA-AU 12 62793765 62793765 single base substitution C T intron_variant MELA-AU 12 62793765 62793765 single base substitution C T upstream_gene_variant MELA-AU 12 62793850 62793850 single base substitution C T intron_variant MELA-AU 12 62793850 62793850 single base substitution C T upstream_gene_variant MELA-AU 12 62794287 62794287 single base substitution T C intron_variant MELA-AU 12 62794287 62794287 single base substitution T C upstream_gene_variant MELA-AU 12 62794874 62794874 single base substitution T A intron_variant MELA-AU 12 62794874 62794874 single base substitution T A upstream_gene_variant MELA-AU 12 62795071 62795071 single base substitution A T intron_variant MELA-AU 12 62795583 62795583 single base substitution C T intron_variant MELA-AU 12 62796827 62796827 single base substitution C T intron_variant MELA-AU 12 62796910 62796910 single base substitution C T intron_variant MELA-AU 12 62797047 62797047 single base substitution G A intron_variant MELA-AU 12 62797354 62797354 single base substitution G A intron_variant MELA-AU 12 62797411 62797411 single base substitution G A intron_variant MELA-AU 12 62797558 62797558 single base substitution C T intron_variant MELA-AU 12 62798044 62798044 single base substitution C T 3_prime_UTR_variant MELA-AU 12 62798044 62798044 single base substitution C T exon_variant MELA-AU 12 62798044 62798044 single base substitution C T intron_variant MELA-AU 12 62798044 62798044 single base substitution C T synonymous_variant D916D 2748C>T MELA-AU 12 62798044 62798044 single base substitution C T synonymous_variant D920D 2760C>T MELA-AU 12 62798044 62798044 single base substitution C T synonymous_variant D945D 2835C>T MELA-AU 12 62798230 62798230 single base substitution C T 3_prime_UTR_variant MELA-AU 12 62798230 62798230 single base substitution C T exon_variant MELA-AU 12 62798230 62798230 single base substitution C T intron_variant MELA-AU 12 62798448 62798448 single base substitution C T 3_prime_UTR_variant MELA-AU 12 62798448 62798448 single base substitution C T downstream_gene_variant MELA-AU 12 62798448 62798448 single base substitution C T intron_variant MELA-AU 12 62798537 62798537 single base substitution T C 3_prime_UTR_variant MELA-AU 12 62798537 62798537 single base substitution T C downstream_gene_variant MELA-AU 12 62798537 62798537 single base substitution T C intron_variant MELA-AU 12 62798747 62798747 single base substitution C T 3_prime_UTR_variant MELA-AU 12 62798747 62798747 single base substitution C T downstream_gene_variant MELA-AU 12 62798747 62798747 single base substitution C T intron_variant MELA-AU 12 62799142 62799143 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 62799142 62799143 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 62799142 62799143 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 62800150 62800150 single base substitution C T downstream_gene_variant MELA-AU 12 62800150 62800150 single base substitution C T intron_variant MELA-AU 12 62801446 62801446 single base substitution C T downstream_gene_variant MELA-AU 12 62801446 62801446 single base substitution C T intron_variant MELA-AU 12 62801560 62801560 single base substitution C T downstream_gene_variant MELA-AU 12 62801560 62801560 single base substitution C T intron_variant MELA-AU 12 62801593 62801593 single base substitution T C downstream_gene_variant MELA-AU 12 62801593 62801593 single base substitution T C intron_variant MELA-AU 12 62801759 62801759 single base substitution C T downstream_gene_variant MELA-AU 12 62801759 62801759 single base substitution C T intron_variant MELA-AU 12 62802425 62802425 single base substitution C T downstream_gene_variant MELA-AU 12 62802425 62802425 single base substitution C T intron_variant MELA-AU 12 62804012 62804012 single base substitution C T downstream_gene_variant MELA-AU 12 62804012 62804012 single base substitution C T intron_variant MELA-AU 12 62804219 62804219 single base substitution C A downstream_gene_variant MELA-AU 12 62804219 62804219 single base substitution C A intron_variant MELA-AU 12 62804550 62804550 single base substitution G A downstream_gene_variant MELA-AU 12 62804550 62804550 single base substitution G A intron_variant MELA-AU 12 62804635 62804635 single base substitution T G downstream_gene_variant MELA-AU 12 62804635 62804635 single base substitution T G intron_variant MELA-AU 12 62805070 62805072 deletion of <=200bp TTT - intron_variant MELA-AU 12 62805387 62805387 single base substitution C T intron_variant MELA-AU 12 62806252 62806252 single base substitution C T intron_variant MELA-AU 12 62806292 62806292 single base substitution C T intron_variant MELA-AU 12 62806431 62806431 single base substitution C T intron_variant MELA-AU 12 62806494 62806494 single base substitution C T intron_variant MELA-AU 12 62806623 62806623 deletion of <=200bp T - intron_variant MELA-AU 12 62806691 62806691 single base substitution C T intron_variant MELA-AU 12 62807193 62807193 single base substitution C T intron_variant MELA-AU 12 62807321 62807321 single base substitution A C intron_variant MELA-AU 12 62807420 62807420 single base substitution C T intron_variant MELA-AU 12 62808621 62808621 single base substitution C T intron_variant MELA-AU 12 62808744 62808744 single base substitution C T intron_variant MELA-AU 12 62808916 62808916 single base substitution A G intron_variant MELA-AU 12 62808953 62808953 single base substitution C T intron_variant MELA-AU 12 62809241 62809241 single base substitution A T intron_variant MELA-AU 12 62809405 62809405 single base substitution G A intron_variant MELA-AU 12 62810118 62810118 single base substitution T G intron_variant MELA-AU 12 62810636 62810636 single base substitution T A intron_variant MELA-AU 12 62810892 62810892 single base substitution C G missense_variant N128K 384C>G MELA-AU 12 62811214 62811214 single base substitution C T downstream_gene_variant MELA-AU 12 62811235 62811235 single base substitution C T downstream_gene_variant MELA-AU 12 62811696 62811696 single base substitution G A downstream_gene_variant MELA-AU 12 62811867 62811867 single base substitution T A downstream_gene_variant MELA-AU 12 62812435 62812435 single base substitution C T downstream_gene_variant MELA-AU 12 62813007 62813007 single base substitution C T downstream_gene_variant MELA-AU 12 62813061 62813061 single base substitution G A downstream_gene_variant MELA-AU 12 62813363 62813363 single base substitution G A downstream_gene_variant MELA-AU 12 62813551 62813551 single base substitution C G downstream_gene_variant MELA-AU 12 62813616 62813616 single base substitution G C downstream_gene_variant MELA-AU 12 62813834 62813834 single base substitution C T downstream_gene_variant MELA-AU 12 62813909 62813909 single base substitution A G downstream_gene_variant MELA-AU 12 62814086 62814086 single base substitution A G downstream_gene_variant MELA-AU 12 62814125 62814125 single base substitution C T downstream_gene_variant MELA-AU 12 62814143 62814143 single base substitution C T downstream_gene_variant MELA-AU 12 62814245 62814245 single base substitution G A downstream_gene_variant MELA-AU 12 62814624 62814624 single base substitution A G downstream_gene_variant MELA-AU 12 62814811 62814811 single base substitution C T downstream_gene_variant MELA-AU 12 62815117 62815117 single base substitution G A downstream_gene_variant MELA-AU 12 62815154 62815154 single base substitution G A downstream_gene_variant MELA-AU 12 62815284 62815284 single base substitution G A downstream_gene_variant MELA-AU 12 62815286 62815286 single base substitution G A downstream_gene_variant MELA-AU 12 62815874 62815874 single base substitution G A downstream_gene_variant MELA-AU 12 62815975 62815975 single base substitution G A downstream_gene_variant MELA-AU 12 62816052 62816052 single base substitution G A downstream_gene_variant ORCA-IN 12 62735968 62735968 single base substitution C G intron_variant ORCA-IN 12 62799533 62799533 single base substitution G C 3_prime_UTR_variant ORCA-IN 12 62799533 62799533 single base substitution G C downstream_gene_variant ORCA-IN 12 62799533 62799533 single base substitution G C intron_variant ORCA-IN 12 62808923 62808923 single base substitution G A intron_variant ORCA-IN 12 62810962 62810962 deletion of <=200bp G - frameshift_variant E152 OV-AU 12 62650823 62650823 single base substitution G C upstream_gene_variant OV-AU 12 62653950 62653950 single base substitution G T upstream_gene_variant OV-AU 12 62654829 62654829 single base substitution A C intron_variant OV-AU 12 62656896 62656896 single base substitution G T intron_variant OV-AU 12 62659083 62659083 single base substitution C T intron_variant OV-AU 12 62664719 62664719 single base substitution C T intron_variant OV-AU 12 62676553 62676553 single base substitution A T intron_variant OV-AU 12 62679378 62679378 single base substitution T C intron_variant OV-AU 12 62680507 62680507 single base substitution T G intron_variant OV-AU 12 62681391 62681391 single base substitution G C intron_variant OV-AU 12 62691643 62691643 single base substitution T A downstream_gene_variant OV-AU 12 62691643 62691643 single base substitution T A intron_variant OV-AU 12 62697138 62697138 single base substitution A T exon_variant OV-AU 12 62697138 62697138 single base substitution A T intron_variant OV-AU 12 62697138 62697138 single base substitution A T upstream_gene_variant OV-AU 12 62699711 62699711 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant OV-AU 12 62699711 62699711 single base substitution T G downstream_gene_variant OV-AU 12 62699711 62699711 single base substitution T G intron_variant OV-AU 12 62700520 62700520 single base substitution G A downstream_gene_variant OV-AU 12 62700520 62700520 single base substitution G A intron_variant OV-AU 12 62702370 62702370 single base substitution G C downstream_gene_variant OV-AU 12 62702370 62702370 single base substitution G C intron_variant OV-AU 12 62706769 62706769 single base substitution A C intron_variant OV-AU 12 62719525 62719525 single base substitution C G downstream_gene_variant OV-AU 12 62719525 62719525 single base substitution C G intron_variant OV-AU 12 62720419 62720419 single base substitution C G downstream_gene_variant OV-AU 12 62720419 62720419 single base substitution C G intron_variant OV-AU 12 62737973 62737973 single base substitution G C intron_variant OV-AU 12 62738466 62738466 single base substitution T C intron_variant OV-AU 12 62742288 62742288 single base substitution T C intron_variant OV-AU 12 62751579 62751579 single base substitution A C downstream_gene_variant OV-AU 12 62751579 62751579 single base substitution A C intron_variant OV-AU 12 62754001 62754001 single base substitution G C downstream_gene_variant OV-AU 12 62754001 62754001 single base substitution G C intron_variant OV-AU 12 62771596 62771596 single base substitution T C intron_variant OV-AU 12 62772733 62772733 single base substitution C T intron_variant OV-AU 12 62773657 62773657 single base substitution A G intron_variant OV-AU 12 62775623 62775623 single base substitution G C downstream_gene_variant OV-AU 12 62775623 62775623 single base substitution G C intron_variant OV-AU 12 62775624 62775624 single base substitution G T downstream_gene_variant OV-AU 12 62775624 62775624 single base substitution G T intron_variant OV-AU 12 62777052 62777052 single base substitution G A downstream_gene_variant OV-AU 12 62777052 62777052 single base substitution G A intron_variant OV-AU 12 62778356 62778356 single base substitution T C downstream_gene_variant OV-AU 12 62778356 62778356 single base substitution T C intron_variant OV-AU 12 62780650 62780650 single base substitution G T intron_variant OV-AU 12 62780957 62780957 single base substitution T C intron_variant OV-AU 12 62788933 62788933 single base substitution A G intron_variant OV-AU 12 62788933 62788933 single base substitution A G upstream_gene_variant OV-AU 12 62798476 62798476 single base substitution A G 3_prime_UTR_variant OV-AU 12 62798476 62798476 single base substitution A G downstream_gene_variant OV-AU 12 62798476 62798476 single base substitution A G intron_variant OV-AU 12 62800367 62800367 single base substitution C T downstream_gene_variant OV-AU 12 62800367 62800367 single base substitution C T intron_variant OV-AU 12 62812032 62812032 single base substitution A G downstream_gene_variant OV-AU 12 62813189 62813189 single base substitution C G downstream_gene_variant OV-AU 12 62814143 62814143 single base substitution C A downstream_gene_variant OV-AU 12 62814424 62814424 single base substitution T C downstream_gene_variant PACA-AU 12 62663255 62663255 single base substitution A C intron_variant PACA-AU 12 62673184 62673184 single base substitution G A intron_variant PACA-AU 12 62678674 62678674 single base substitution G C intron_variant PACA-AU 12 62678924 62678924 single base substitution A T intron_variant PACA-AU 12 62679765 62679765 single base substitution T A intron_variant PACA-AU 12 62685337 62685337 single base substitution C T intron_variant PACA-AU 12 62694325 62694325 insertion of <=200bp - A intron_variant PACA-AU 12 62694580 62694580 single base substitution G A intron_variant PACA-AU 12 62694580 62694580 single base substitution G A upstream_gene_variant PACA-AU 12 62698246 62698246 single base substitution C T downstream_gene_variant PACA-AU 12 62698246 62698246 single base substitution C T intron_variant PACA-AU 12 62698246 62698246 single base substitution C T upstream_gene_variant PACA-AU 12 62709192 62709192 single base substitution A C downstream_gene_variant PACA-AU 12 62709192 62709192 single base substitution A C intron_variant PACA-AU 12 62710639 62710639 single base substitution G A downstream_gene_variant PACA-AU 12 62710639 62710639 single base substitution G A intron_variant PACA-AU 12 62710639 62710639 single base substitution G A upstream_gene_variant PACA-AU 12 62711567 62711567 single base substitution A G downstream_gene_variant PACA-AU 12 62711567 62711567 single base substitution A G intron_variant PACA-AU 12 62711567 62711567 single base substitution A G upstream_gene_variant PACA-AU 12 62714087 62714087 single base substitution G A intron_variant PACA-AU 12 62714087 62714087 single base substitution G A upstream_gene_variant PACA-AU 12 62720135 62720135 single base substitution G T downstream_gene_variant PACA-AU 12 62720135 62720135 single base substitution G T intron_variant PACA-AU 12 62720459 62720459 single base substitution T A downstream_gene_variant PACA-AU 12 62720459 62720459 single base substitution T A intron_variant PACA-AU 12 62723955 62723957 deletion of <=200bp AGG - downstream_gene_variant PACA-AU 12 62723955 62723957 deletion of <=200bp AGG - intron_variant PACA-AU 12 62738925 62738925 single base substitution C A intron_variant PACA-AU 12 62740295 62740295 single base substitution A G intron_variant PACA-AU 12 62741800 62741800 single base substitution T G intron_variant PACA-AU 12 62743627 62743627 insertion of <=200bp - A intron_variant PACA-AU 12 62743706 62743706 deletion of <=200bp T - intron_variant PACA-AU 12 62747045 62747045 single base substitution T A intron_variant PACA-AU 12 62747045 62747045 single base substitution T A upstream_gene_variant PACA-AU 12 62758091 62758091 single base substitution G A intron_variant PACA-AU 12 62761734 62761734 single base substitution T C intron_variant PACA-AU 12 62768060 62768060 deletion of <=200bp T - intron_variant PACA-AU 12 62771398 62771398 single base substitution G A intron_variant PACA-AU 12 62775390 62775390 deletion of <=200bp G - exon_variant PACA-AU 12 62775390 62775390 deletion of <=200bp G - frameshift_variant L316 PACA-AU 12 62775390 62775390 deletion of <=200bp G - frameshift_variant L320 PACA-AU 12 62775390 62775390 deletion of <=200bp G - frameshift_variant L345 PACA-AU 12 62783088 62783088 single base substitution G C intron_variant PACA-AU 12 62783088 62783088 single base substitution G C upstream_gene_variant PACA-AU 12 62783254 62783254 single base substitution G C exon_variant PACA-AU 12 62783254 62783254 single base substitution G C missense_variant C477S 1430G>C PACA-AU 12 62783254 62783254 single base substitution G C missense_variant C481S 1442G>C PACA-AU 12 62783254 62783254 single base substitution G C missense_variant C506S 1517G>C PACA-AU 12 62783254 62783254 single base substitution G C upstream_gene_variant PACA-AU 12 62792792 62792792 single base substitution T G intron_variant PACA-AU 12 62792792 62792792 single base substitution T G upstream_gene_variant PACA-AU 12 62794271 62794271 single base substitution G C intron_variant PACA-AU 12 62794271 62794271 single base substitution G C upstream_gene_variant PACA-AU 12 62797102 62797102 single base substitution G C intron_variant PACA-AU 12 62798706 62798706 single base substitution C A 3_prime_UTR_variant PACA-AU 12 62798706 62798706 single base substitution C A downstream_gene_variant PACA-AU 12 62798706 62798706 single base substitution C A intron_variant PACA-AU 12 62810372 62810372 deletion of <=200bp T - intron_variant PACA-AU 12 62810566 62810566 single base substitution G A intron_variant PACA-AU 12 62810959 62810959 insertion of <=200bp - A frameshift_variant K151K? PACA-CA 12 62651910 62651910 single base substitution C T upstream_gene_variant PACA-CA 12 62654533 62654533 single base substitution C T intron_variant PACA-CA 12 62657947 62657947 single base substitution T C intron_variant PACA-CA 12 62659004 62659004 single base substitution C T intron_variant PACA-CA 12 62660882 62660882 single base substitution C A intron_variant PACA-CA 12 62661335 62661335 deletion of <=200bp T - intron_variant PACA-CA 12 62663137 62663137 insertion of <=200bp - TG intron_variant PACA-CA 12 62672094 62672094 deletion of <=200bp T - intron_variant PACA-CA 12 62672094 62672094 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 62672127 62672131 deletion of <=200bp TAAAA - intron_variant PACA-CA 12 62672127 62672131 deletion of <=200bp TAAAA - upstream_gene_variant PACA-CA 12 62674274 62674274 single base substitution C T intron_variant PACA-CA 12 62681856 62681856 insertion of <=200bp - T intron_variant PACA-CA 12 62681904 62681904 single base substitution G A intron_variant PACA-CA 12 62683748 62683748 single base substitution A G intron_variant PACA-CA 12 62683776 62683776 single base substitution A T intron_variant PACA-CA 12 62697204 62697204 deletion of <=200bp T - exon_variant PACA-CA 12 62697204 62697204 deletion of <=200bp T - intron_variant PACA-CA 12 62697204 62697204 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 62697316 62697316 single base substitution G A exon_variant PACA-CA 12 62697316 62697316 single base substitution G A intron_variant PACA-CA 12 62697316 62697316 single base substitution G A upstream_gene_variant PACA-CA 12 62700955 62700955 deletion of <=200bp T - downstream_gene_variant PACA-CA 12 62700955 62700955 deletion of <=200bp T - intron_variant PACA-CA 12 62715598 62715604 deletion of <=200bp ATTTTTA - downstream_gene_variant PACA-CA 12 62715598 62715604 deletion of <=200bp ATTTTTA - intron_variant PACA-CA 12 62717558 62717558 single base substitution G A downstream_gene_variant PACA-CA 12 62717558 62717558 single base substitution G A intron_variant PACA-CA 12 62718578 62718578 single base substitution C T downstream_gene_variant PACA-CA 12 62718578 62718578 single base substitution C T intron_variant PACA-CA 12 62721336 62721336 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 62721336 62721336 deletion of <=200bp A - intron_variant PACA-CA 12 62732270 62732270 single base substitution C A downstream_gene_variant PACA-CA 12 62732270 62732270 single base substitution C A intron_variant PACA-CA 12 62732906 62732906 single base substitution C T downstream_gene_variant PACA-CA 12 62732906 62732906 single base substitution C T intron_variant PACA-CA 12 62736429 62736429 single base substitution G T intron_variant PACA-CA 12 62739767 62739767 single base substitution A T intron_variant PACA-CA 12 62740131 62740131 single base substitution T G intron_variant PACA-CA 12 62741400 62741400 insertion of <=200bp - T intron_variant PACA-CA 12 62746246 62746246 single base substitution T G intron_variant PACA-CA 12 62746246 62746246 single base substitution T G upstream_gene_variant PACA-CA 12 62749812 62749812 single base substitution T C downstream_gene_variant PACA-CA 12 62749812 62749812 single base substitution T C intron_variant PACA-CA 12 62749999 62749999 single base substitution C T downstream_gene_variant PACA-CA 12 62749999 62749999 single base substitution C T intron_variant PACA-CA 12 62750735 62750735 single base substitution G A downstream_gene_variant PACA-CA 12 62750735 62750735 single base substitution G A intron_variant PACA-CA 12 62756440 62756440 single base substitution C T intron_variant PACA-CA 12 62762402 62762402 single base substitution C T intron_variant PACA-CA 12 62765228 62765228 single base substitution G A intron_variant PACA-CA 12 62768217 62768217 single base substitution G A exon_variant PACA-CA 12 62768217 62768217 single base substitution G A intron_variant PACA-CA 12 62768663 62768663 single base substitution A G intron_variant PACA-CA 12 62771252 62771252 single base substitution G C intron_variant PACA-CA 12 62776406 62776406 single base substitution G A downstream_gene_variant PACA-CA 12 62776406 62776406 single base substitution G A intron_variant PACA-CA 12 62779135 62779135 single base substitution A C downstream_gene_variant PACA-CA 12 62779135 62779135 single base substitution A C intron_variant PACA-CA 12 62781523 62781523 single base substitution G T intron_variant PACA-CA 12 62781523 62781523 single base substitution G T upstream_gene_variant PACA-CA 12 62783720 62783720 single base substitution G A downstream_gene_variant PACA-CA 12 62783720 62783720 single base substitution G A missense_variant R570Q 1709G>A PACA-CA 12 62783720 62783720 single base substitution G A missense_variant R574Q 1721G>A PACA-CA 12 62783720 62783720 single base substitution G A missense_variant R599Q 1796G>A PACA-CA 12 62783720 62783720 single base substitution G A upstream_gene_variant PACA-CA 12 62788874 62788874 single base substitution A T intron_variant PACA-CA 12 62788874 62788874 single base substitution A T upstream_gene_variant PACA-CA 12 62789957 62789957 single base substitution T G intron_variant PACA-CA 12 62789957 62789957 single base substitution T G upstream_gene_variant PACA-CA 12 62790555 62790555 single base substitution T C intron_variant PACA-CA 12 62790555 62790555 single base substitution T C upstream_gene_variant PACA-CA 12 62790950 62790950 single base substitution A G intron_variant PACA-CA 12 62790950 62790950 single base substitution A G upstream_gene_variant PACA-CA 12 62791938 62791938 deletion of <=200bp T - intron_variant PACA-CA 12 62791938 62791938 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 62792851 62792851 single base substitution C T intron_variant PACA-CA 12 62792851 62792851 single base substitution C T upstream_gene_variant PACA-CA 12 62794590 62794590 single base substitution G C intron_variant PACA-CA 12 62794590 62794590 single base substitution G C upstream_gene_variant PACA-CA 12 62800528 62800528 single base substitution C T downstream_gene_variant PACA-CA 12 62800528 62800528 single base substitution C T intron_variant PACA-CA 12 62801663 62801663 single base substitution A G downstream_gene_variant PACA-CA 12 62801663 62801663 single base substitution A G intron_variant PACA-CA 12 62806005 62806005 insertion of <=200bp - A intron_variant PACA-CA 12 62807525 62807547 deletion of <=200bp TACCACTTTTCTTATGATTCATG - intron_variant PACA-CA 12 62807763 62807763 single base substitution C T intron_variant PACA-CA 12 62810113 62810113 single base substitution A G intron_variant PACA-CA 12 62815101 62815101 insertion of <=200bp - C downstream_gene_variant PAEN-AU 12 62686141 62686141 single base substitution T C intron_variant PAEN-AU 12 62724386 62724386 single base substitution G A downstream_gene_variant PAEN-AU 12 62724386 62724386 single base substitution G A intron_variant PAEN-AU 12 62771203 62771203 single base substitution T G intron_variant PAEN-AU 12 62791602 62791602 single base substitution A C intron_variant PAEN-AU 12 62791602 62791602 single base substitution A C upstream_gene_variant PAEN-AU 12 62791791 62791791 single base substitution G T intron_variant PAEN-AU 12 62791791 62791791 single base substitution G T upstream_gene_variant PAEN-IT 12 62649529 62649529 single base substitution G T upstream_gene_variant PAEN-IT 12 62693779 62693779 single base substitution A G intron_variant PAEN-IT 12 62712219 62712219 single base substitution G T downstream_gene_variant PAEN-IT 12 62712219 62712219 single base substitution G T intron_variant PAEN-IT 12 62712219 62712219 single base substitution G T upstream_gene_variant PAEN-IT 12 62795349 62795349 single base substitution C A intron_variant PAEN-IT 12 62800757 62800757 single base substitution G T downstream_gene_variant PAEN-IT 12 62800757 62800757 single base substitution G T intron_variant PBCA-DE 12 62650510 62650510 single base substitution G A upstream_gene_variant PBCA-DE 12 62653253 62653253 single base substitution C T upstream_gene_variant PBCA-DE 12 62657214 62657214 single base substitution G A intron_variant PBCA-DE 12 62676603 62676603 single base substitution C T intron_variant PBCA-DE 12 62681453 62681453 deletion of <=200bp T - intron_variant PBCA-DE 12 62696599 62696599 single base substitution C T exon_variant PBCA-DE 12 62696599 62696599 single base substitution C T synonymous_variant H28H 84C>T PBCA-DE 12 62696599 62696599 single base substitution C T synonymous_variant H77H 231C>T PBCA-DE 12 62696599 62696599 single base substitution C T synonymous_variant H82H 246C>T PBCA-DE 12 62696599 62696599 single base substitution C T upstream_gene_variant PBCA-DE 12 62705543 62705543 insertion of <=200bp - A intron_variant PBCA-DE 12 62707102 62707102 single base substitution G C intron_variant PBCA-DE 12 62708014 62708014 single base substitution G A intron_variant PBCA-DE 12 62728835 62728835 single base substitution C T intron_variant PBCA-DE 12 62745268 62745268 single base substitution C T intron_variant PBCA-DE 12 62745268 62745268 single base substitution C T upstream_gene_variant PBCA-DE 12 62747902 62747903 deletion of <=200bp GT - intron_variant PBCA-DE 12 62747902 62747903 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 12 62749291 62749291 single base substitution C G downstream_gene_variant PBCA-DE 12 62749291 62749291 single base substitution C G intron_variant PBCA-DE 12 62750340 62750340 single base substitution C T downstream_gene_variant PBCA-DE 12 62750340 62750340 single base substitution C T intron_variant PBCA-DE 12 62754175 62754175 single base substitution T A intron_variant PBCA-DE 12 62772102 62772102 single base substitution A G intron_variant PBCA-DE 12 62773560 62773560 single base substitution A C intron_variant PBCA-DE 12 62786871 62786871 single base substitution A G downstream_gene_variant PBCA-DE 12 62786871 62786871 single base substitution A G exon_variant PBCA-DE 12 62786871 62786871 single base substitution A G missense_variant K22R 65A>G PBCA-DE 12 62786871 62786871 single base substitution A G missense_variant K791R 2372A>G PBCA-DE 12 62786871 62786871 single base substitution A G missense_variant K795R 2384A>G PBCA-DE 12 62786871 62786871 single base substitution A G missense_variant K820R 2459A>G PBCA-DE 12 62786871 62786871 single base substitution A G upstream_gene_variant PBCA-DE 12 62789934 62789934 insertion of <=200bp - AT intron_variant PBCA-DE 12 62789934 62789934 insertion of <=200bp - AT upstream_gene_variant PBCA-DE 12 62790778 62790778 single base substitution T G intron_variant PBCA-DE 12 62790778 62790778 single base substitution T G upstream_gene_variant PBCA-DE 12 62796139 62796139 insertion of <=200bp - T intron_variant PBCA-DE 12 62801762 62801762 single base substitution G A downstream_gene_variant PBCA-DE 12 62801762 62801762 single base substitution G A intron_variant PBCA-DE 12 62806020 62806020 single base substitution A G intron_variant PBCA-DE 12 62808369 62808369 single base substitution G T intron_variant PBCA-DE 12 62808756 62808756 single base substitution A G intron_variant PBCA-DE 12 62809421 62809421 single base substitution G T intron_variant PBCA-DE 12 62811204 62811204 deletion of <=200bp A - 3_prime_UTR_variant PRAD-CA 12 62655613 62655613 single base substitution T C intron_variant PRAD-CA 12 62741712 62741712 single base substitution T A intron_variant PRAD-CA 12 62747580 62747580 single base substitution G T intron_variant PRAD-CA 12 62747580 62747580 single base substitution G T upstream_gene_variant PRAD-CA 12 62800934 62800934 single base substitution A G downstream_gene_variant PRAD-CA 12 62800934 62800934 single base substitution A G intron_variant PRAD-CA 12 62810093 62810093 single base substitution T C intron_variant PRAD-CA 12 62810960 62810960 single base substitution A C missense_variant K151T 452A>C PRAD-UK 12 62667432 62667432 single base substitution A G intron_variant PRAD-UK 12 62667432 62667432 single base substitution A G upstream_gene_variant PRAD-UK 12 62677204 62677204 single base substitution A T intron_variant PRAD-UK 12 62705816 62705816 single base substitution G C intron_variant PRAD-UK 12 62720539 62720539 insertion of <=200bp - T downstream_gene_variant PRAD-UK 12 62720539 62720539 insertion of <=200bp - T intron_variant PRAD-UK 12 62725097 62725097 single base substitution A G downstream_gene_variant PRAD-UK 12 62725097 62725097 single base substitution A G intron_variant PRAD-UK 12 62734575 62734575 single base substitution T G downstream_gene_variant PRAD-UK 12 62734575 62734575 single base substitution T G intron_variant PRAD-UK 12 62736590 62736590 single base substitution G A intron_variant PRAD-UK 12 62745563 62745563 single base substitution G A intron_variant PRAD-UK 12 62745563 62745563 single base substitution G A upstream_gene_variant PRAD-UK 12 62759465 62759465 single base substitution A C intron_variant PRAD-UK 12 62772525 62772525 single base substitution A G intron_variant PRAD-UK 12 62784984 62784984 single base substitution G A downstream_gene_variant PRAD-UK 12 62784984 62784984 single base substitution G A missense_variant E641K 1921G>A PRAD-UK 12 62784984 62784984 single base substitution G A missense_variant E645K 1933G>A PRAD-UK 12 62784984 62784984 single base substitution G A missense_variant E670K 2008G>A PRAD-UK 12 62784984 62784984 single base substitution G A upstream_gene_variant PRAD-UK 12 62785127 62785127 single base substitution C T downstream_gene_variant PRAD-UK 12 62785127 62785127 single base substitution C T synonymous_variant N688N 2064C>T PRAD-UK 12 62785127 62785127 single base substitution C T synonymous_variant N692N 2076C>T PRAD-UK 12 62785127 62785127 single base substitution C T synonymous_variant N717N 2151C>T PRAD-UK 12 62785127 62785127 single base substitution C T upstream_gene_variant PRAD-UK 12 62799150 62799150 single base substitution T C 3_prime_UTR_variant PRAD-UK 12 62799150 62799150 single base substitution T C downstream_gene_variant PRAD-UK 12 62799150 62799150 single base substitution T C intron_variant PRAD-UK 12 62806607 62806607 single base substitution T G intron_variant PRAD-UK 12 62815001 62815001 single base substitution A G downstream_gene_variant PRAD-US 12 62688039 62688039 single base substitution G A exon_variant PRAD-US 12 62688039 62688039 single base substitution G A missense_variant D3N 7G>A PRAD-US 12 62688039 62688039 single base substitution G A missense_variant D52N 154G>A PRAD-US 12 62688039 62688039 single base substitution G A missense_variant D57N 169G>A PRAD-US 12 62777656 62777656 single base substitution A G downstream_gene_variant PRAD-US 12 62777656 62777656 single base substitution A G exon_variant PRAD-US 12 62777656 62777656 single base substitution A G synonymous_variant G346G 1038A>G PRAD-US 12 62777656 62777656 single base substitution A G synonymous_variant G350G 1050A>G PRAD-US 12 62777656 62777656 single base substitution A G synonymous_variant G375G 1125A>G PRAD-US 12 62777707 62777707 single base substitution A C downstream_gene_variant PRAD-US 12 62777707 62777707 single base substitution A C exon_variant PRAD-US 12 62777707 62777707 single base substitution A C missense_variant L363F 1089A>C PRAD-US 12 62777707 62777707 single base substitution A C missense_variant L367F 1101A>C PRAD-US 12 62777707 62777707 single base substitution A C missense_variant L392F 1176A>C PRAD-US 12 62784708 62784708 single base substitution C A downstream_gene_variant PRAD-US 12 62784708 62784708 single base substitution C A missense_variant Q608K 1822C>A PRAD-US 12 62784708 62784708 single base substitution C A missense_variant Q612K 1834C>A PRAD-US 12 62784708 62784708 single base substitution C A missense_variant Q637K 1909C>A PRAD-US 12 62784708 62784708 single base substitution C A upstream_gene_variant PRAD-US 12 62785633 62785633 insertion of <=200bp - A downstream_gene_variant PRAD-US 12 62785633 62785633 insertion of <=200bp - A frameshift_variant L728L? PRAD-US 12 62785633 62785633 insertion of <=200bp - A frameshift_variant L732L? PRAD-US 12 62785633 62785633 insertion of <=200bp - A frameshift_variant L757L? PRAD-US 12 62785633 62785633 insertion of <=200bp - A upstream_gene_variant READ-US 12 62777650 62777650 single base substitution C A downstream_gene_variant READ-US 12 62777650 62777650 single base substitution C A exon_variant READ-US 12 62777650 62777650 single base substitution C A missense_variant F344L 1032C>A READ-US 12 62777650 62777650 single base substitution C A missense_variant F348L 1044C>A READ-US 12 62777650 62777650 single base substitution C A missense_variant F373L 1119C>A RECA-EU 12 62671293 62671293 single base substitution T G intron_variant RECA-EU 12 62671293 62671293 single base substitution T G upstream_gene_variant RECA-EU 12 62678562 62678562 single base substitution A G intron_variant RECA-EU 12 62685559 62685559 single base substitution A G intron_variant RECA-EU 12 62695570 62695570 single base substitution T A intron_variant RECA-EU 12 62695570 62695570 single base substitution T A upstream_gene_variant RECA-EU 12 62699029 62699029 single base substitution G A downstream_gene_variant RECA-EU 12 62699029 62699029 single base substitution G A intron_variant RECA-EU 12 62699029 62699029 single base substitution G A upstream_gene_variant RECA-EU 12 62700246 62700246 single base substitution G A downstream_gene_variant RECA-EU 12 62700246 62700246 single base substitution G A intron_variant RECA-EU 12 62702762 62702762 single base substitution A T downstream_gene_variant RECA-EU 12 62702762 62702762 single base substitution A T intron_variant RECA-EU 12 62720417 62720417 single base substitution A T downstream_gene_variant RECA-EU 12 62720417 62720417 single base substitution A T intron_variant RECA-EU 12 62724538 62724538 single base substitution C A downstream_gene_variant RECA-EU 12 62724538 62724538 single base substitution C A intron_variant RECA-EU 12 62726309 62726309 single base substitution C T downstream_gene_variant RECA-EU 12 62726309 62726309 single base substitution C T intron_variant RECA-EU 12 62729266 62729266 single base substitution C A 3_prime_UTR_variant RECA-EU 12 62729266 62729266 single base substitution C A downstream_gene_variant RECA-EU 12 62729266 62729266 single base substitution C A intron_variant RECA-EU 12 62734406 62734406 single base substitution A G downstream_gene_variant RECA-EU 12 62734406 62734406 single base substitution A G intron_variant RECA-EU 12 62735284 62735284 single base substitution G T downstream_gene_variant RECA-EU 12 62735284 62735284 single base substitution G T intron_variant RECA-EU 12 62754429 62754429 single base substitution A T intron_variant RECA-EU 12 62765934 62765934 single base substitution A G intron_variant RECA-EU 12 62770167 62770167 single base substitution G A intron_variant RECA-EU 12 62791333 62791333 single base substitution T C intron_variant RECA-EU 12 62791333 62791333 single base substitution T C upstream_gene_variant RECA-EU 12 62794081 62794081 single base substitution A G intron_variant RECA-EU 12 62794081 62794081 single base substitution A G upstream_gene_variant RECA-EU 12 62794446 62794446 single base substitution T A intron_variant RECA-EU 12 62794446 62794446 single base substitution T A upstream_gene_variant RECA-EU 12 62794867 62794867 single base substitution G A intron_variant RECA-EU 12 62794867 62794867 single base substitution G A upstream_gene_variant RECA-EU 12 62795770 62795770 single base substitution T A intron_variant RECA-EU 12 62800599 62800599 single base substitution A C downstream_gene_variant RECA-EU 12 62800599 62800599 single base substitution A C intron_variant SKCA-BR 12 62650943 62650943 insertion of <=200bp - ATGTGTGTGTATATGTATATATACACAATGTGTGTGTGTG upstream_gene_variant SKCA-BR 12 62660585 62660585 single base substitution A T intron_variant SKCA-BR 12 62664495 62664495 single base substitution A G intron_variant SKCA-BR 12 62666298 62666298 single base substitution C A intron_variant SKCA-BR 12 62668197 62668197 insertion of <=200bp - CA intron_variant SKCA-BR 12 62668197 62668197 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 62673057 62673057 single base substitution C T intron_variant SKCA-BR 12 62676222 62676222 single base substitution G A intron_variant SKCA-BR 12 62677500 62677500 single base substitution G A intron_variant SKCA-BR 12 62682804 62682804 single base substitution C T intron_variant SKCA-BR 12 62682847 62682847 single base substitution C G intron_variant SKCA-BR 12 62683478 62683478 insertion of <=200bp - TTGTGTG intron_variant SKCA-BR 12 62683710 62683710 single base substitution C T intron_variant SKCA-BR 12 62686225 62686225 single base substitution A G intron_variant SKCA-BR 12 62686990 62686990 single base substitution C T intron_variant SKCA-BR 12 62690389 62690389 single base substitution G T downstream_gene_variant SKCA-BR 12 62690389 62690389 single base substitution G T intron_variant SKCA-BR 12 62690390 62690390 single base substitution T C downstream_gene_variant SKCA-BR 12 62690390 62690390 single base substitution T C intron_variant SKCA-BR 12 62690503 62690506 deletion of <=200bp GAAC - downstream_gene_variant SKCA-BR 12 62690503 62690506 deletion of <=200bp GAAC - intron_variant SKCA-BR 12 62693982 62693982 single base substitution A G intron_variant SKCA-BR 12 62695567 62695567 single base substitution T C intron_variant SKCA-BR 12 62695567 62695567 single base substitution T C upstream_gene_variant SKCA-BR 12 62697385 62697385 single base substitution T C downstream_gene_variant SKCA-BR 12 62697385 62697385 single base substitution T C intron_variant SKCA-BR 12 62697385 62697385 single base substitution T C upstream_gene_variant SKCA-BR 12 62698933 62698933 single base substitution A G downstream_gene_variant SKCA-BR 12 62698933 62698933 single base substitution A G intron_variant SKCA-BR 12 62698933 62698933 single base substitution A G upstream_gene_variant SKCA-BR 12 62699896 62699896 single base substitution A C downstream_gene_variant SKCA-BR 12 62699896 62699896 single base substitution A C intron_variant SKCA-BR 12 62705136 62705136 single base substitution A G intron_variant SKCA-BR 12 62706430 62706430 single base substitution C T intron_variant SKCA-BR 12 62713090 62713090 single base substitution C T downstream_gene_variant SKCA-BR 12 62713090 62713090 single base substitution C T intron_variant SKCA-BR 12 62713090 62713090 single base substitution C T upstream_gene_variant SKCA-BR 12 62714556 62714556 single base substitution C T intron_variant SKCA-BR 12 62714556 62714556 single base substitution C T upstream_gene_variant SKCA-BR 12 62722601 62722601 single base substitution A G downstream_gene_variant SKCA-BR 12 62722601 62722601 single base substitution A G intron_variant SKCA-BR 12 62724714 62724715 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 12 62724714 62724715 deletion of <=200bp GA - intron_variant SKCA-BR 12 62730305 62730305 single base substitution A G 3_prime_UTR_variant SKCA-BR 12 62730305 62730305 single base substitution A G downstream_gene_variant SKCA-BR 12 62730305 62730305 single base substitution A G intron_variant SKCA-BR 12 62732729 62732729 single base substitution T G downstream_gene_variant SKCA-BR 12 62732729 62732729 single base substitution T G intron_variant SKCA-BR 12 62735368 62735368 single base substitution C T downstream_gene_variant SKCA-BR 12 62735368 62735368 single base substitution C T intron_variant SKCA-BR 12 62735658 62735658 single base substitution G C intron_variant SKCA-BR 12 62738740 62738740 single base substitution C T intron_variant SKCA-BR 12 62739023 62739023 single base substitution C T intron_variant SKCA-BR 12 62744492 62744492 single base substitution A C intron_variant SKCA-BR 12 62744492 62744492 single base substitution A C upstream_gene_variant SKCA-BR 12 62744514 62744514 single base substitution T C intron_variant SKCA-BR 12 62744514 62744514 single base substitution T C upstream_gene_variant SKCA-BR 12 62748367 62748367 single base substitution C T intron_variant SKCA-BR 12 62748367 62748367 single base substitution C T upstream_gene_variant SKCA-BR 12 62760082 62760082 single base substitution C T intron_variant SKCA-BR 12 62762843 62762843 single base substitution C T intron_variant SKCA-BR 12 62763026 62763026 single base substitution C T intron_variant SKCA-BR 12 62768887 62768887 single base substitution A G intron_variant SKCA-BR 12 62768993 62768993 single base substitution C T intron_variant SKCA-BR 12 62769033 62769033 single base substitution G A intron_variant SKCA-BR 12 62774675 62774675 single base substitution C T intron_variant SKCA-BR 12 62778733 62778733 single base substitution C T downstream_gene_variant SKCA-BR 12 62778733 62778733 single base substitution C T intron_variant SKCA-BR 12 62778942 62778942 single base substitution T G downstream_gene_variant SKCA-BR 12 62778942 62778942 single base substitution T G intron_variant SKCA-BR 12 62781186 62781186 single base substitution C T intron_variant SKCA-BR 12 62781186 62781186 single base substitution C T upstream_gene_variant SKCA-BR 12 62782562 62782562 single base substitution T G intron_variant SKCA-BR 12 62782562 62782562 single base substitution T G upstream_gene_variant SKCA-BR 12 62784688 62784688 single base substitution C T downstream_gene_variant SKCA-BR 12 62784688 62784688 single base substitution C T missense_variant S601F 1802C>T SKCA-BR 12 62784688 62784688 single base substitution C T missense_variant S605F 1814C>T SKCA-BR 12 62784688 62784688 single base substitution C T missense_variant S630F 1889C>T SKCA-BR 12 62784688 62784688 single base substitution C T upstream_gene_variant SKCA-BR 12 62787189 62787189 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 12 62787189 62787189 insertion of <=200bp - GA intron_variant SKCA-BR 12 62787189 62787189 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 12 62787456 62787456 single base substitution A C downstream_gene_variant SKCA-BR 12 62787456 62787456 single base substitution A C intron_variant SKCA-BR 12 62787456 62787456 single base substitution A C upstream_gene_variant SKCA-BR 12 62787816 62787816 single base substitution G T downstream_gene_variant SKCA-BR 12 62787816 62787816 single base substitution G T intron_variant SKCA-BR 12 62787816 62787816 single base substitution G T upstream_gene_variant SKCA-BR 12 62789267 62789267 single base substitution C T intron_variant SKCA-BR 12 62789267 62789267 single base substitution C T upstream_gene_variant SKCA-BR 12 62791896 62791896 single base substitution C A intron_variant SKCA-BR 12 62791896 62791896 single base substitution C A upstream_gene_variant SKCA-BR 12 62794393 62794393 insertion of <=200bp - TA intron_variant SKCA-BR 12 62794393 62794393 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 12 62796768 62796768 single base substitution T C intron_variant SKCA-BR 12 62799640 62799640 single base substitution A T 3_prime_UTR_variant SKCA-BR 12 62799640 62799640 single base substitution A T downstream_gene_variant SKCA-BR 12 62799640 62799640 single base substitution A T intron_variant SKCA-BR 12 62802787 62802787 single base substitution C T downstream_gene_variant SKCA-BR 12 62802787 62802787 single base substitution C T intron_variant SKCA-BR 12 62802808 62802808 single base substitution T G downstream_gene_variant SKCA-BR 12 62802808 62802808 single base substitution T G intron_variant SKCA-BR 12 62808756 62808756 insertion of <=200bp - ATACATATATATCATATATG intron_variant SKCA-BR 12 62809654 62809654 single base substitution T G intron_variant SKCA-BR 12 62812765 62812765 single base substitution C T downstream_gene_variant SKCA-BR 12 62813604 62813604 single base substitution G A downstream_gene_variant SKCM-US 12 62749225 62749225 single base substitution G A downstream_gene_variant SKCM-US 12 62749225 62749225 single base substitution G A exon_variant SKCM-US 12 62749225 62749225 single base substitution G A missense_variant G266E 797G>A SKCM-US 12 62749225 62749225 single base substitution G A missense_variant G270E 809G>A SKCM-US 12 62749225 62749225 single base substitution G A missense_variant G295E 884G>A SKCM-US 12 62777950 62777950 single base substitution T C downstream_gene_variant SKCM-US 12 62777950 62777950 single base substitution T C exon_variant SKCM-US 12 62777950 62777950 single base substitution T C missense_variant V418A 1253T>C SKCM-US 12 62777950 62777950 single base substitution T C missense_variant V422A 1265T>C SKCM-US 12 62777950 62777950 single base substitution T C missense_variant V447A 1340T>C SKCM-US 12 62783684 62783684 single base substitution C A downstream_gene_variant SKCM-US 12 62783684 62783684 single base substitution C A stop_gained S558* 1673C>A SKCM-US 12 62783684 62783684 single base substitution C A stop_gained S562* 1685C>A SKCM-US 12 62783684 62783684 single base substitution C A stop_gained S587* 1760C>A SKCM-US 12 62783684 62783684 single base substitution C A upstream_gene_variant SKCM-US 12 62784970 62784970 single base substitution C T downstream_gene_variant SKCM-US 12 62784970 62784970 single base substitution C T missense_variant S636F 1907C>T SKCM-US 12 62784970 62784970 single base substitution C T missense_variant S640F 1919C>T SKCM-US 12 62784970 62784970 single base substitution C T missense_variant S665F 1994C>T SKCM-US 12 62784970 62784970 single base substitution C T upstream_gene_variant SKCM-US 12 62790089 62790089 single base substitution C T exon_variant SKCM-US 12 62790089 62790089 single base substitution C T intron_variant SKCM-US 12 62790089 62790089 single base substitution C T missense_variant S64L 191C>T SKCM-US 12 62790089 62790089 single base substitution C T missense_variant S833L 2498C>T SKCM-US 12 62790089 62790089 single base substitution C T missense_variant S837L 2510C>T SKCM-US 12 62790089 62790089 single base substitution C T missense_variant S862L 2585C>T SKCM-US 12 62790089 62790089 single base substitution C T upstream_gene_variant SKCM-US 12 62790107 62790107 single base substitution C T exon_variant SKCM-US 12 62790107 62790107 single base substitution C T intron_variant SKCM-US 12 62790107 62790107 single base substitution C T missense_variant P70L 209C>T SKCM-US 12 62790107 62790107 single base substitution C T missense_variant P839L 2516C>T SKCM-US 12 62790107 62790107 single base substitution C T missense_variant P843L 2528C>T SKCM-US 12 62790107 62790107 single base substitution C T missense_variant P868L 2603C>T SKCM-US 12 62790107 62790107 single base substitution C T upstream_gene_variant SKCM-US 12 62797974 62797974 single base substitution C T intron_variant SKCM-US 12 62797974 62797974 single base substitution C T missense_variant S893F 2678C>T SKCM-US 12 62797974 62797974 single base substitution C T missense_variant S897F 2690C>T SKCM-US 12 62797974 62797974 single base substitution C T missense_variant S922F 2765C>T SKCM-US 12 62797974 62797974 single base substitution C T splice_region_variant SKCM-US 12 62798036 62798036 single base substitution C T 3_prime_UTR_variant SKCM-US 12 62798036 62798036 single base substitution C T exon_variant SKCM-US 12 62798036 62798036 single base substitution C T intron_variant SKCM-US 12 62798036 62798036 single base substitution C T missense_variant P914S 2740C>T SKCM-US 12 62798036 62798036 single base substitution C T missense_variant P918S 2752C>T SKCM-US 12 62798036 62798036 single base substitution C T missense_variant P943S 2827C>T STAD-US 12 62687994 62687994 insertion of <=200bp - A 5_prime_UTR_variant STAD-US 12 62687994 62687994 insertion of <=200bp - A exon_variant STAD-US 12 62687994 62687994 insertion of <=200bp - A frameshift_variant K37K? STAD-US 12 62687994 62687994 insertion of <=200bp - A frameshift_variant K42K? STAD-US 12 62777633 62777633 single base substitution C T downstream_gene_variant STAD-US 12 62777633 62777633 single base substitution C T exon_variant STAD-US 12 62777633 62777633 single base substitution C T missense_variant R339C 1015C>T STAD-US 12 62777633 62777633 single base substitution C T missense_variant R343C 1027C>T STAD-US 12 62777633 62777633 single base substitution C T missense_variant R368C 1102C>T STAD-US 12 62785090 62785090 single base substitution C T downstream_gene_variant STAD-US 12 62785090 62785090 single base substitution C T missense_variant T676M 2027C>T STAD-US 12 62785090 62785090 single base substitution C T missense_variant T680M 2039C>T STAD-US 12 62785090 62785090 single base substitution C T missense_variant T705M 2114C>T STAD-US 12 62785090 62785090 single base substitution C T upstream_gene_variant STAD-US 12 62786091 62786091 deletion of <=200bp A - downstream_gene_variant STAD-US 12 62786091 62786091 deletion of <=200bp A - frameshift_variant K753 STAD-US 12 62786091 62786091 deletion of <=200bp A - frameshift_variant K757 STAD-US 12 62786091 62786091 deletion of <=200bp A - frameshift_variant K782 STAD-US 12 62786091 62786091 deletion of <=200bp A - upstream_gene_variant STAD-US 12 62786960 62786960 single base substitution A G downstream_gene_variant STAD-US 12 62786960 62786960 single base substitution A G exon_variant STAD-US 12 62786960 62786960 single base substitution A G missense_variant T52A 154A>G STAD-US 12 62786960 62786960 single base substitution A G missense_variant T821A 2461A>G STAD-US 12 62786960 62786960 single base substitution A G missense_variant T825A 2473A>G STAD-US 12 62786960 62786960 single base substitution A G missense_variant T850A 2548A>G STAD-US 12 62786960 62786960 single base substitution A G upstream_gene_variant UCEC-US 12 62688081 62688081 single base substitution C A exon_variant UCEC-US 12 62688081 62688081 single base substitution C A missense_variant L17I 49C>A UCEC-US 12 62688081 62688081 single base substitution C A missense_variant L66I 196C>A UCEC-US 12 62688081 62688081 single base substitution C A missense_variant L71I 211C>A UCEC-US 12 62749230 62749230 single base substitution A G downstream_gene_variant UCEC-US 12 62749230 62749230 single base substitution A G exon_variant UCEC-US 12 62749230 62749230 single base substitution A G missense_variant T268A 802A>G UCEC-US 12 62749230 62749230 single base substitution A G missense_variant T272A 814A>G UCEC-US 12 62749230 62749230 single base substitution A G missense_variant T297A 889A>G UCEC-US 12 62777895 62777895 single base substitution C T downstream_gene_variant UCEC-US 12 62777895 62777895 single base substitution C T exon_variant UCEC-US 12 62777895 62777895 single base substitution C T stop_gained R400* 1198C>T UCEC-US 12 62777895 62777895 single base substitution C T stop_gained R404* 1210C>T UCEC-US 12 62777895 62777895 single base substitution C T stop_gained R429* 1285C>T UCEC-US 12 62783428 62783428 single base substitution T C exon_variant UCEC-US 12 62783428 62783428 single base substitution T C missense_variant F505S 1514T>C UCEC-US 12 62783428 62783428 single base substitution T C missense_variant F509S 1526T>C UCEC-US 12 62783428 62783428 single base substitution T C missense_variant F534S 1601T>C UCEC-US 12 62783428 62783428 single base substitution T C upstream_gene_variant UCEC-US 12 62783435 62783435 single base substitution G C exon_variant UCEC-US 12 62783435 62783435 single base substitution G C missense_variant M507I 1521G>C UCEC-US 12 62783435 62783435 single base substitution G C missense_variant M511I 1533G>C UCEC-US 12 62783435 62783435 single base substitution G C missense_variant M536I 1608G>C UCEC-US 12 62783435 62783435 single base substitution G C upstream_gene_variant UCEC-US 12 62786931 62786932 deletion of <=200bp AC - downstream_gene_variant UCEC-US 12 62786931 62786932 deletion of <=200bp AC - exon_variant UCEC-US 12 62786931 62786932 deletion of <=200bp AC - frameshift_variant Y42 UCEC-US 12 62786931 62786932 deletion of <=200bp AC - frameshift_variant Y811 UCEC-US 12 62786931 62786932 deletion of <=200bp AC - frameshift_variant Y815 UCEC-US 12 62786931 62786932 deletion of <=200bp AC - frameshift_variant Y840 UCEC-US 12 62786931 62786932 deletion of <=200bp AC - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A194-01 COSM3464116 c.797G>A p.G266E Substitution - Missense 12:62355444-62355444 + tumor_4163639 COSM1161059 c.2814T>G p.D938E Substitution - Missense 12:62404330-62404330 + TCGA-B0-4811-01 COSM468746 c.1341G>A p.L447L Substitution - coding silent 12:62384257-62384257 + BD246T COSM5496223 c.2763T>A p.G921G Substitution - coding silent 12:62404279-62404279 + TCGA-CM-4743-01 COSM5156153 c.1206A>C p.K402N Substitution - Missense 12:62383956-62383956 + CHC1010T COSM4954534 c.1947T>G p.S649R Substitution - Missense 12:62391230-62391230 + TARGET-30-PATHVK COSM1288846 c.2284T>A p.C762S Substitution - Missense 12:62392338-62392338 + TCGA-BC-A216-01 COSM4911381 c.845C>T p.P282L Substitution - Missense 12:62381506-62381506 + LUAD-B02216 COSM335372 c.2574G>T p.M858I Substitution - Missense 12:62396385-62396385 + TCGA-20-1686-01 COSM1323117 c.694T>C p.S232P Substitution - Missense 12:62355341-62355341 + TCGA-D5-6930-01 COSM5166073 c.1200_1201insA p.P403fs*14 Insertion - Frameshift 12:62383950-62383951 + 529 COSM5612287 c.959T>C p.M320T Substitution - Missense 12:62381620-62381620 + TCGA-AP-A05D-01 COSM942346 c.1521G>C p.M507I Substitution - Missense 12:62389655-62389655 + TCGA-FD-A3N5-01 COSM1299751 c.2139G>A p.R713R Substitution - coding silent 12:62391422-62391422 + tumor_4135350 COSM1161058 c.718A>G p.T240A Substitution - Missense 12:62355365-62355365 + NPC7D COSM4995166 c.2230G>C p.D744H Substitution - Missense 12:62391426-62391426 + TCGA-G2-A2EF-01 COSM1299752 c.2544G>C p.L848L Substitution - coding silent 12:62396355-62396355 + EGC15 COSM5051850 c.534A>C p.R178S Substitution - Missense 12:62321522-62321522 + TCGA-CG-5721-01 COSM4044051 c.1102C>T p.R368C Substitution - Missense 12:62383852-62383852 + BD246T COSM5496224 c.2850T>A p.G950G Substitution - coding silent 12:62404279-62404279 + HCC16T COSM1606473 c.1492A>T p.N498Y Substitution - Missense 12:62389626-62389626 + TCGA-EE-A3AF-06 COSM3464123 c.2678C>T p.S893F Substitution - Missense 12:62404194-62404194 + TCGA-G2-A2EL-01 COSM1299749 c.1101G>C p.L367F Substitution - Missense 12:62383938-62383938 + TCGA-AO-A03O-01 COSM3812738 c.787A>G p.S263G Substitution - Missense 12:62355434-62355434 + Case6a COSM1717549 c.758A>G p.N253S Substitution - Missense 12:62355405-62355405 + TCGA-B7-5816-01 COSM4044054 c.2548A>G p.T850A Substitution - Missense 12:62393180-62393180 + CRC-03T COSM5451277 c.2582G>A p.G861E Substitution - Missense 12:62396393-62396393 + TCGA-GN-A269-01 COSM168099 c.2498C>T p.S833L Substitution - Missense 12:62396309-62396309 + RK144_C01 COSM3739826 c.1079G>A p.R360K Substitution - Missense 12:62381653-62381653 + HCC151 COSM3704327 c.440T>C p.V147A Substitution - Missense 12:62314881-62314881 + KPOPBR-31-T COSM5963971 c.106C>A p.R36S Substitution - Missense 12:62294195-62294195 + TCGA-43-6647-01 COSM694856 c.2403A>T p.V801V Substitution - coding silent 12:62393122-62393122 + TCGA-CA-6717-01 COSM1363517 c.299T>G p.L100R Substitution - Missense 12:62302871-62302871 + TCGA-D3-A2JF-06 COSM3464121 c.2516C>T p.P839L Substitution - Missense 12:62396327-62396327 + 090-05-01TD COSM5417221 c.2689A>G p.K897E Substitution - Missense 12:62401201-62401201 + HCC151T COSM3704328 c.440T>C p.V147A Substitution - Missense 12:62314881-62314881 + YUKLAB COSM1363519 c.1119A>C p.K373N Substitution - Missense 12:62383956-62383956 + TCGA-CC-A3MA-01 COSM4942845 c.2550T>C p.A850A Substitution - coding silent 12:62396361-62396361 + TCGA-CG-5721-01 COSM4044050 c.1015C>T p.R339C Substitution - Missense 12:62383852-62383852 + CSCC-20-T COSM4484536 c.281C>T p.T94I Substitution - Missense 12:62302853-62302853 + TCGA-B1-5398-01 COSM3987127 c.2655T>A p.T885T Substitution - coding silent 12:62401254-62401254 + PCSI_0210_Pa_P_526 COSM4964412 c.1796G>A p.R599Q Substitution - Missense 12:62389940-62389940 + HCC159T COSM5806734 c.205G>T p.G69* Substitution - Nonsense 12:62294294-62294294 + Pat_41_B COSM5841672 c.1633G>A p.E545K Substitution - Missense 12:62389680-62389680 + TCGA-EE-A2MF-06 COSM4893411 c.1760C>A p.S587* Substitution - Nonsense 12:62389904-62389904 + Pat_24_A COSM5841675 c.2129G>A p.R710Q Substitution - Missense 12:62391325-62391325 + Pat_24_A COSM5841674 c.2042G>A p.R681Q Substitution - Missense 12:62391325-62391325 + ICGC_0030 COSM1158942 c.2745T>A p.L915L Substitution - coding silent 12:62404261-62404261 + 2492730 COSM5728719 c.203C>T p.S68F Substitution - Missense 12:62294292-62294292 + TCGA-EJ-7794-01 COSM1470640 c.1089A>C p.L363F Substitution - Missense 12:62383926-62383926 + TCGA-B0-4697-01 COSM3359886 c.1231G>T p.D411Y Substitution - Missense 12:62383981-62383981 + C086 COSM3872230 c.2827C>T p.P943S Substitution - Missense 12:62404256-62404256 + UM-SCC-47 COSM4599910 c.831_837delGGAACCT p.P279fs*11 Deletion - Frameshift 12:62355391-62355397 + 115T COSM1237970 c.2852C>G p.T951S Substitution - Missense 12:62404368-62404368 + 9176_T COSM5041105 c.2552T>C p.V851A Substitution - Missense 12:62396363-62396363 + HCC058T COSM5804384 c.529A>T p.T177S Substitution - Missense 12:62321517-62321517 + SJHYPO044 COSM4775759 c.1161+1_1161+2insC p.? Unknown 12:62383999-62384000 + YURED COSM1705875 c.904C>T p.P302S Substitution - Missense 12:62381565-62381565 + TCGA-HC-A632-01 COSM4392873 c.1038A>G p.G346G Substitution - coding silent 12:62383875-62383875 + 2521252 COSM5889222 c.1471-8C>T p.? Unknown 12:62389597-62389597 + HCC16 COSM1606473 c.1492A>T p.N498Y Substitution - Missense 12:62389626-62389626 + NPC7D COSM4995165 c.2143G>C p.D715H Substitution - Missense 12:62391426-62391426 + TCGA-F5-6814-01 COSM3417053 c.1032C>A p.F344L Substitution - Missense 12:62383869-62383869 + TCGA-F5-6814-01 COSM3417054 c.1119C>A p.F373L Substitution - Missense 12:62383869-62383869 + YUKAT COSM5375762 c.1016G>A p.R339H Substitution - Missense 12:62383853-62383853 + S00472 COSM5657687 c.1795G>A p.E599K Substitution - Missense 12:62390901-62390901 + TCGA-13-1496-01 COSM73223 c.1958A>C p.D653A Substitution - Missense 12:62391241-62391241 + ESO-0023 COSM1270042 c.2430T>G p.S810S Substitution - coding silent 12:62393149-62393149 + TCGA-EE-A3AF-06 COSM3464124 c.2765C>T p.S922F Substitution - Missense 12:62404194-62404194 + SW48 COSM1990571 c.782G>A p.G261D Substitution - Missense 12:62355429-62355429 + TCGA-C8-A12K-01 COSM5220439 c.963G>C p.K321N Substitution - Missense 12:62381537-62381537 + TCGA-GF-A6C9-06 COSM4901782 c.1253T>C p.V418A Substitution - Missense 12:62384169-62384169 + 2-RSII COSM1731639 c.1350C>A p.Y450* Substitution - Nonsense 12:62384266-62384266 + ESCC-148T COSM3936089 c.720C>T p.T240T Substitution - coding silent 12:62355367-62355367 + TCGA-ES-A2HS-01 COSM4910492 c.1430G>T p.C477F Substitution - Missense 12:62389474-62389474 + TCGA-B0-5705-01 COSM468744 c.1201A>G p.N401D Substitution - Missense 12:62384117-62384117 + HCC120T COSM3704329 c.502A>G p.I168V Substitution - Missense 12:62321490-62321490 + BN38 COSM1606472 c.1348T>C p.Y450H Substitution - Missense 12:62384264-62384264 + ESO-114 COSM1270043 c.2481C>G p.I827M Substitution - Missense 12:62393200-62393200 + HCC151 COSM3704328 c.440T>C p.V147A Substitution - Missense 12:62314881-62314881 + TCGA-D3-A2JF-06 COSM3464122 c.2603C>T p.P868L Substitution - Missense 12:62396327-62396327 + SNUH_G76_S1 COSM3753434 c.246C>T p.H82H Substitution - coding silent 12:62302818-62302818 + HCC159T COSM5806735 c.205G>T p.G69* Substitution - Nonsense 12:62294294-62294294 + RK184_C01 COSM1628762 c.1687C>T p.P563S Substitution - Missense 12:62389918-62389918 + YUGURT COSM5375769 c.2602_2603CC>TT p.P868L Substitution - Missense 12:62396326-62396327 + H650 COSM1194570 c.151G>A p.D51N Substitution - Missense 12:62294240-62294240 + YUGURT COSM5375768 c.2515_2516CC>TT p.P839L Substitution - Missense 12:62396326-62396327 + SJDOSTEOS002 COSM5759723 c.2721C>T p.F907F Substitution - coding silent 12:62404237-62404237 + CN-AML-CR-8-Dx COSM5424206 c.241G>A p.E81K Substitution - Missense 12:62302813-62302813 + CRC-03T COSM5451278 c.2669G>A p.G890E Substitution - Missense 12:62396393-62396393 + PA285 COSM1163018 c.2210C>T p.A737V Substitution - Missense 12:62391879-62391879 + B70-Tumor COSM1747186 c.2020C>T p.Q674* Substitution - Nonsense 12:62391303-62391303 + TCGA-CM-4743-01 COSM1363519 c.1119A>C p.K373N Substitution - Missense 12:62383956-62383956 + PT27 COSM5905932 c.752G>A p.G251E Substitution - Missense 12:62355399-62355399 + PT38 COSM5923027 c.1558-7C>T p.? Unknown 12:62389598-62389598 + 112140 COSM95432 c.1145A>G p.D382G Substitution - Missense 12:62383982-62383982 + SNU-175 COSM1990581 c.1367C>T p.P456L Substitution - Missense 12:62384283-62384283 + KPOPBR-31-T COSM5963970 c.106C>A p.R36S Substitution - Missense 12:62294195-62294195 + TCGA-HU-A4GT-01 COSM4044052 c.2027C>T p.T676M Substitution - Missense 12:62391310-62391310 + H1703 COSM1196618 c.1152G>T p.R384S Substitution - Missense 12:62383989-62383989 + 9176_T COSM5041106 c.2639T>C p.V880A Substitution - Missense 12:62396363-62396363 + TCGA-GF-A6C9-06 COSM4901783 c.1340T>C p.V447A Substitution - Missense 12:62384169-62384169 + 2492730 COSM5728720 c.203C>T p.S68F Substitution - Missense 12:62294292-62294292 + HCT8 COSM1990604 c.2533C>T p.R845C Substitution - Missense 12:62396344-62396344 + SW48 COSM4209990 c.869G>A p.G290D Substitution - Missense 12:62355429-62355429 + SJHYPO044 COSM4775760 c.1248+1_1248+2insC p.? Unknown 12:62383999-62384000 + HCT15 COSM4210032 c.2620C>T p.R874C Substitution - Missense 12:62396344-62396344 + TCGA-14-0786-01 COSM3398974 c.1257T>C p.C419C Substitution - coding silent 12:62384173-62384173 + TCGA-AX-A0J1-01 COSM942345 c.1514T>C p.F505S Substitution - Missense 12:62389648-62389648 + TCGA-CA-6717-01 COSM5827251 c.299T>G p.L100R Substitution - Missense 12:62302871-62302871 + PDA_001 COSM4997738 c.2828T>G p.I943R Substitution - Missense 12:62404344-62404344 + BD236T COSM5519160 c.749A>G p.Y250C Substitution - Missense 12:62349286-62349286 + TCGA-HT-8564-01 COSM3968371 c.576T>C p.N192N Substitution - coding silent 12:62321564-62321564 + CN-AML-NR-12-Dx COSM5424205 c.241G>A p.E81K Substitution - Missense 12:62302813-62302813 + TCGA-AA-A00N-01 COSM278027 c.1199G>A p.R400Q Substitution - Missense 12:62384115-62384115 + BN38 COSM3704331 c.1435T>C p.Y479H Substitution - Missense 12:62384264-62384264 + 587376 COSM1231965 c.1927C>T p.P643S Substitution - Missense 12:62391210-62391210 + CHC1010T COSM4954534 c.1947T>G p.S649R Substitution - Missense 12:62391230-62391230 + TCGA-24-2030-01 COSM73222 c.370G>T p.V124L Substitution - Missense 12:62314811-62314811 + TCGA-AA-3697-01 COSM5103902 c.236T>G p.L79R Substitution - Missense 12:62302808-62302808 + ESCC_BICR_066T COSM5444560 c.537G>T p.L179F Substitution - Missense 12:62321525-62321525 + TCGA-66-2785-01 COSM694855 c.2484-1G>A p.? Unknown 12:62396294-62396294 + RK144_C01 COSM3739825 c.992G>A p.R331K Substitution - Missense 12:62381653-62381653 + SNU-175 COSM4210002 c.1454C>T p.P485L Substitution - Missense 12:62384283-62384283 + HCC098T COSM5806735 c.205G>T p.G69* Substitution - Nonsense 12:62294294-62294294 + CHC1010T COSM4954535 c.2034T>G p.S678R Substitution - Missense 12:62391230-62391230 + 3-RS COSM1731660 c.1775C>T p.S592F Substitution - Missense 12:62390881-62390881 + PD9702a COSM5772601 c.874A>G p.K292E Substitution - Missense 12:62381535-62381535 + T5 COSM3753434 c.246C>T p.H82H Substitution - coding silent 12:62302818-62302818 + 0060_CRUK_PC_0060_T1_DNA COSM5420669 c.1921G>A p.E641K Substitution - Missense 12:62391204-62391204 + J46_T COSM3955043 c.1050G>T p.W350C Substitution - Missense 12:62381624-62381624 + T578 COSM4739650 c.1692C>T p.H564H Substitution - coding silent 12:62389836-62389836 + TCGA-B7-5816-01 COSM1990600 c.2461A>G p.T821A Substitution - Missense 12:62393180-62393180 + PD9702a COSM5772602 c.961A>G p.K321E Substitution - Missense 12:62381535-62381535 + TCGA-EJ-5507-01 COSM1128507 c.169G>A p.D57N Substitution - Missense 12:62294258-62294258 + LS174T COSM1990597 c.2257delA p.K754fs*4 Deletion - Frameshift 12:62392311-62392311 + 529 COSM5612288 c.1046T>C p.M349T Substitution - Missense 12:62381620-62381620 + TCGA-AA-A010-01 COSM286381 c.2549C>T p.A850V Substitution - Missense 12:62396360-62396360 + TCGA-AC-A23H-01 COSM3812742 c.2614G>A p.D872N Substitution - Missense 12:62401213-62401213 + 0060_CRUK_PC_0060_T1_DNA COSM5420670 c.2008G>A p.E670K Substitution - Missense 12:62391204-62391204 + TCGA-AM-5820-01 COSM3753434 c.246C>T p.H82H Substitution - coding silent 12:62302818-62302818 + LS180 COSM4334524 c.2344delA p.K783fs*4 Deletion - Frameshift 12:62392311-62392311 + HCC120 COSM3704329 c.502A>G p.I168V Substitution - Missense 12:62321490-62321490 + HCC120 COSM3704330 c.502A>G p.I168V Substitution - Missense 12:62321490-62321490 + TCGA-B0-4697-01 COSM3359885 c.1144G>T p.D382Y Substitution - Missense 12:62383981-62383981 + ESCC_BICR_060T COSM5434877 c.2731G>C p.G911R Substitution - Missense 12:62404247-62404247 + J46_T COSM3955040 c.962G>T p.W321L Substitution - Missense 12:62381623-62381623 + LS174T COSM4334524 c.2344delA p.K783fs*4 Deletion - Frameshift 12:62392311-62392311 + HCC058T COSM5804383 c.529A>T p.T177S Substitution - Missense 12:62321517-62321517 + CRC-03T COSM5451274 c.2580A>G p.G860G Substitution - coding silent 12:62396391-62396391 + TCGA-CC-A3MA-01 COSM4942846 c.2637T>C p.A879A Substitution - coding silent 12:62396361-62396361 + PDA_001 COSM4997739 c.2915T>G p.I972R Substitution - Missense 12:62404344-62404344 + YUGOE COSM1705876 c.2484T>G p.N828K Substitution - Missense 12:62396295-62396295 + S00938 COSM5663251 c.2036A>T p.Q679L Substitution - Missense 12:62391232-62391232 + sysucc-274T COSM5475683 c.919G>T p.G307C Substitution - Missense 12:62381580-62381580 + CN-AML-12-T COSM5424205 c.241G>A p.E81K Substitution - Missense 12:62302813-62302813 + YUMOBER COSM5375757 c.379T>C p.C127R Substitution - Missense 12:62314820-62314820 + 385 COSM4426868 c.2410G>C p.E804Q Substitution - Missense 12:62392377-62392377 + ESO-721 COSM1270044 c.1780G>T p.E594* Substitution - Nonsense 12:62390886-62390886 + LUAD_E00522 COSM352465 c.744G>C p.S248S Substitution - coding silent 12:62355391-62355391 + BN38T COSM1606472 c.1348T>C p.Y450H Substitution - Missense 12:62384264-62384264 + TCGA-C8-A12K-01 COSM431633 c.876G>C p.K292N Substitution - Missense 12:62381537-62381537 + B70 COSM1747186 c.2020C>T p.Q674* Substitution - Nonsense 12:62391303-62391303 + TCGA-GN-A269-01 COSM3464120 c.2585C>T p.S862L Substitution - Missense 12:62396309-62396309 + TCGA-D5-6930-01 COSM1363518 c.1113_1114insA p.P374fs*14 Insertion - Frameshift 12:62383950-62383951 + TCGA-AM-5821-01 COSM431636 c.2214T>C p.A738A Substitution - coding silent 12:62391883-62391883 + DLD1 COSM4210032 c.2620C>T p.R874C Substitution - Missense 12:62396344-62396344 + TCGA-EE-A2MF-06 COSM549479 c.1673C>A p.S558* Substitution - Nonsense 12:62389904-62389904 + HCT15 COSM1990604 c.2533C>T p.R845C Substitution - Missense 12:62396344-62396344 + Gp5D COSM4210033 c.2695A>G p.K899E Substitution - Missense 12:62401207-62401207 + 2521252 COSM5889223 c.1558-8C>T p.? Unknown 12:62389597-62389597 + J46_T COSM3955042 c.963G>T p.W321C Substitution - Missense 12:62381624-62381624 + TCGA-FW-A3TU-06 COSM3464118 c.1907C>T p.S636F Substitution - Missense 12:62391190-62391190 + T578 COSM4739653 c.2524C>T p.R842* Substitution - Nonsense 12:62393156-62393156 + B80-3-Tumor COSM1747187 c.2824G>C p.D942H Substitution - Missense 12:62404340-62404340 + TCGA-B0-5080-01 COSM468748 c.2706G>C p.Q902H Substitution - Missense 12:62404222-62404222 + TCGA-66-2756-01 COSM694859 c.773G>T p.G258V Substitution - Missense 12:62355420-62355420 + TCGA-14-0786-01 COSM3398975 c.1344T>C p.C448C Substitution - coding silent 12:62384173-62384173 + 2334199 COSM324211 c.1051G>T p.D351Y Substitution - Missense 12:62383888-62383888 + CHC1010T COSM4954535 c.2034T>G p.S678R Substitution - Missense 12:62391230-62391230 + 090-05-01TD COSM5417220 c.2602A>G p.K868E Substitution - Missense 12:62401201-62401201 + TCGA-HT-8564-01 COSM3968370 c.576T>C p.N192N Substitution - coding silent 12:62321564-62321564 + Case6b COSM1717549 c.758A>G p.N253S Substitution - Missense 12:62355405-62355405 + sysucc-274T COSM5475684 c.1006G>T p.G336C Substitution - Missense 12:62381580-62381580 + HCC151T COSM3704327 c.440T>C p.V147A Substitution - Missense 12:62314881-62314881 + LUAD-YINHD COSM348734 c.680C>A p.P227H Substitution - Missense 12:62325930-62325930 + TCGA-AO-A03O-01 COSM3812739 c.874A>G p.S292G Substitution - Missense 12:62355434-62355434 + 2-RSII COSM1731637 c.1343delA p.V449fs*3 Deletion - Frameshift 12:62384259-62384259 + RK046_C01 COSM1628763 c.2537A>G p.Y846C Substitution - Missense 12:62396348-62396348 + TCGA-HU-A4GT-01 COSM4044053 c.2114C>T p.T705M Substitution - Missense 12:62391310-62391310 + HN_62426 COSM128447 c.2598T>C p.F866F Substitution - coding silent 12:62401197-62401197 + SJDOSTEOS002 COSM5759724 c.2808C>T p.F936F Substitution - coding silent 12:62404237-62404237 + TCGA-B1-5398-01 COSM3987128 c.2742T>A p.T914T Substitution - coding silent 12:62401254-62401254 + TCGA-AM-5821-01 COSM3753435 c.2301T>C p.A767A Substitution - coding silent 12:62391883-62391883 + HCC16 COSM3704332 c.1579A>T p.N527Y Substitution - Missense 12:62389626-62389626 + YUROL COSM5375766 c.1827C>T p.L609L Substitution - coding silent 12:62389971-62389971 + B70-Tumor COSM3931715 c.2107C>T p.Q703* Substitution - Nonsense 12:62391303-62391303 + S00938 COSM5663250 c.1949A>T p.Q650L Substitution - Missense 12:62391232-62391232 + TCGA-CJ-4871-01 COSM3359887 c.1234C>A p.L412I Substitution - Missense 12:62384150-62384150 + TCGA-BH-A1EY-01 COSM5219562 c.861C>G p.G287G Substitution - coding silent 12:62355421-62355421 + LUAD-RT-S01699 COSM378161 c.1516G>C p.A506P Substitution - Missense 12:62389650-62389650 + 2-RSII COSM1731638 c.1346T>G p.V449G Substitution - Missense 12:62384262-62384262 + CN-AML-NR-12-Dx COSM5424206 c.241G>A p.E81K Substitution - Missense 12:62302813-62302813 + TCGA-EK-A2RA-01 COSM4848235 c.883G>A p.E295K Substitution - Missense 12:62381544-62381544 + TCGA-AA-3713-01 COSM1363520 c.1566-1G>T p.? Unknown 12:62389796-62389796 + TCGA-CA-6717-01 COSM1363522 c.1964T>G p.V655G Substitution - Missense 12:62391247-62391247 + RK180_C01 COSM1628760 c.348+4C>T p.? Unknown 12:62302924-62302924 + TCGA-D8-A146-01 COSM5222797 c.2337A>G p.K779K Substitution - coding silent 12:62392304-62392304 + TCGA-FU-A3HZ-01 COSM4840973 c.1829T>G p.I610S Substitution - Missense 12:62390935-62390935 + 2492730 COSM5728723 c.1188C>T p.N396N Substitution - coding silent 12:62384104-62384104 + TCGA-D8-A27G-01 COSM3812741 c.2654G>T p.G885V Substitution - Missense 12:62396378-62396378 + YUKAT COSM5375763 c.1103G>A p.R368H Substitution - Missense 12:62383853-62383853 + TCGA-AP-A059-01 COSM942341 c.211C>A p.L71I Substitution - Missense 12:62294300-62294300 + YUROL COSM5375765 c.1740C>T p.L580L Substitution - coding silent 12:62389971-62389971 + CN-AML-CR-8-Dx COSM5424205 c.241G>A p.E81K Substitution - Missense 12:62302813-62302813 + TCGA-D1-A0ZO-01 COSM942347 c.2432_2433delAC p.Y811fs*1 Deletion - Frameshift 12:62393151-62393152 + TCGA-CA-6717-01 COSM5827253 c.2051T>G p.V684G Substitution - Missense 12:62391247-62391247 + 188 COSM1741547 c.1684C>T p.Q562* Substitution - Nonsense 12:62389915-62389915 + Gp5D COSM1990605 c.2608A>G p.K870E Substitution - Missense 12:62401207-62401207 + TCGA-33-4533-01 COSM694857 c.1967G>A p.G656E Substitution - Missense 12:62391250-62391250 + TCGA-G3-A25S-01 COSM4926724 c.1413A>G p.G471G Substitution - coding silent 12:62389457-62389457 + TCGA-DK-A3IQ-01 COSM1299753 c.2800G>A p.E934K Substitution - Missense 12:62404316-62404316 + TCGA-CJ-4871-01 COSM3359888 c.1321C>A p.L441I Substitution - Missense 12:62384150-62384150 + ESCC-148T COSM3936090 c.807C>T p.T269T Substitution - coding silent 12:62355367-62355367 + TCGA-ER-A194-01 COSM3464117 c.884G>A p.G295E Substitution - Missense 12:62355444-62355444 + HCC078T COSM5806365 c.1429G>T p.E477* Substitution - Nonsense 12:62384258-62384258 + TCGA-CM-6171-01 COSM1363523 c.2734delT p.P914fs*17 Deletion - Frameshift 12:62404250-62404250 + ESCC_13 COSM5625104 c.1727G>A p.R576K Substitution - Missense 12:62389871-62389871 + SJDOSTEOS002 COSM5759726 c.2784C>T p.I928I Substitution - coding silent 12:62404300-62404300 + TCGA-AC-A23H-01 COSM3812743 c.2701G>A p.D901N Substitution - Missense 12:62401213-62401213 + ESCC_BICR_060T COSM5434878 c.2818G>C p.G940R Substitution - Missense 12:62404247-62404247 + LPJ108 COSM1316401 c.830G>T p.C277F Substitution - Missense 12:62381491-62381491 + SJDOSTEOS002 COSM5759727 c.2871C>T p.I957I Substitution - coding silent 12:62404300-62404300 + TCGA-AN-A046-01 COSM3812744 c.2673T>A p.I891I Substitution - coding silent 12:62401272-62401272 + 8030032 COSM1159483 c.1430G>C p.C477S Substitution - Missense 12:62389474-62389474 + DLD1 COSM1990604 c.2533C>T p.R845C Substitution - Missense 12:62396344-62396344 + LS180 COSM1990597 c.2257delA p.K754fs*4 Deletion - Frameshift 12:62392311-62392311 + TCGA-BC-A216-01 COSM4911382 c.932C>T p.P311L Substitution - Missense 12:62381506-62381506 + TCGA-EW-A1IZ-01 COSM5231154 c.2308_2309delTT p.F770fs*1 Deletion - Frameshift 12:62392275-62392276 + TCGA-06-6390 COSM2153450 c.1318C>G p.P440A Substitution - Missense 12:62384234-62384234 + Pat_41_B COSM5841671 c.1546G>A p.E516K Substitution - Missense 12:62389680-62389680 + EGC15 COSM5051851 c.534A>C p.R178S Substitution - Missense 12:62321522-62321522 + ICGC_MB15 COSM215548 c.2372A>G p.K791R Substitution - Missense 12:62393091-62393091 + TCGA-HC-A632-01 COSM4392874 c.1125A>G p.G375G Substitution - coding silent 12:62383875-62383875 + ESCC_BICR_066T COSM5444561 c.537G>T p.L179F Substitution - Missense 12:62321525-62321525 + HCT8 COSM4210032 c.2620C>T p.R874C Substitution - Missense 12:62396344-62396344 + TCGA-D8-A146-01 COSM1476811 c.2250A>G p.K750K Substitution - coding silent 12:62392304-62392304 + SW1222 COSM4654713 c.2440G>A p.E814K Substitution - Missense 12:62393072-62393072 + UM-SCC-47 COSM4599909 c.744_750delGGAACCT p.P250fs*11 Deletion - Frameshift 12:62355391-62355397 + 441 COSM4434503 c.951C>T p.F317F Substitution - coding silent 12:62381525-62381525 + S00472 COSM5657688 c.1882G>A p.E628K Substitution - Missense 12:62390901-62390901 + LUAD-YINHD COSM348733 c.328C>T p.Q110* Substitution - Nonsense 12:62302900-62302900 + TCGA-A2-A0SW-01 COSM431637 c.2339G>A p.C780Y Substitution - Missense 12:62393058-62393058 + TCGA-DK-A3IQ-01 COSM1299750 c.1437A>G p.A479A Substitution - coding silent 12:62389481-62389481 + TCGA-EK-A2RA-01 COSM4848236 c.970G>A p.E324K Substitution - Missense 12:62381544-62381544 + TCGA-34-5927-01 COSM694860 c.397C>G p.L133V Substitution - Missense 12:62314838-62314838 + TCGA-D1-A174-01 COSM942342 c.429C>T p.N143N Substitution - coding silent 12:62314870-62314870 + C086 COSM3872229 c.2740C>T p.P914S Substitution - Missense 12:62404256-62404256 + TCGA-ES-A2HS-01 COSM4910493 c.1517G>T p.C506F Substitution - Missense 12:62389474-62389474 + Pat_41_B COSM5841669 c.1252G>A p.V418I Substitution - Missense 12:62384081-62384081 + Pat_41_B COSM5841668 c.1165G>A p.V389I Substitution - Missense 12:62384081-62384081 + CN-AML-12-T COSM5424206 c.241G>A p.E81K Substitution - Missense 12:62302813-62302813 + TCGA-A2-A0SW-01 COSM5194982 c.2426G>A p.C809Y Substitution - Missense 12:62393058-62393058 + TCGA-D8-A27G-01 COSM3812740 c.2567G>T p.G856V Substitution - Missense 12:62396378-62396378 + CRC-03T COSM5451275 c.2667A>G p.G889G Substitution - coding silent 12:62396391-62396391 + TCGA-FU-A3HZ-01 COSM4840974 c.1916T>G p.I639S Substitution - Missense 12:62390935-62390935 + TCGA-UC-A7PF-01 COSM4829866 c.2812G>C p.D938H Substitution - Missense 12:62404328-62404328 + B80-3-Tumor COSM3931716 c.2911G>C p.D971H Substitution - Missense 12:62404340-62404340 + TCGA-CH-5768-01 COSM1128505 c.1822C>A p.Q608K Substitution - Missense 12:62390928-62390928 + YUMEZ COSM5375759 c.744G>A p.S248S Substitution - coding silent 12:62355391-62355391 + TCGA-A3-3358-01 COSM468745 c.1306A>G p.T436A Substitution - Missense 12:62384222-62384222 + 385 COSM4426867 c.2323G>C p.E775Q Substitution - Missense 12:62392377-62392377 + 3-RS COSM1731659 c.1426C>A p.L476I Substitution - Missense 12:62389470-62389470 + J46_T COSM3955041 c.1049G>T p.W350L Substitution - Missense 12:62381623-62381623 + TCGA-AA-3713-01 COSM5106056 c.1653-1G>T p.? Unknown 12:62389796-62389796 + TCGA-AA-3697-01 COSM1363516 c.236T>G p.L79R Substitution - Missense 12:62302808-62302808 + TCGA-UC-A7PF-01 COSM4829867 c.2899G>C p.D967H Substitution - Missense 12:62404328-62404328 + HCC078T COSM5806364 c.1342G>T p.E448* Substitution - Nonsense 12:62384258-62384258 + ESCC_13 COSM5625103 c.1640G>A p.R547K Substitution - Missense 12:62389871-62389871 + T578 COSM4739649 c.1605C>T p.H535H Substitution - coding silent 12:62389836-62389836 + PT38 COSM5923026 c.1471-7C>T p.? Unknown 12:62389598-62389598 + TCGA-AA-A010-01 COSM286380 c.563T>G p.F188C Substitution - Missense 12:62321551-62321551 + 2293782 COSM4608466 c.689C>A p.P230Q Substitution - Missense 12:62349226-62349226 + TCGA-AX-A05Z-01 COSM942343 c.802A>G p.T268A Substitution - Missense 12:62355449-62355449 + ESO-887 COSM1270045 c.1565+1G>A p.? Unknown 12:62389700-62389700 + sysucc-783T COSM5483786 c.1243T>A p.S415T Substitution - Missense 12:62384159-62384159 + 441 COSM4434502 c.864C>T p.F288F Substitution - coding silent 12:62381525-62381525 + T578 COSM4739652 c.2437C>T p.R813* Substitution - Nonsense 12:62393156-62393156 + PCSI_0210_Pa_P_526 COSM4964411 c.1709G>A p.R570Q Substitution - Missense 12:62389940-62389940 + HCC098T COSM5806734 c.205G>T p.G69* Substitution - Nonsense 12:62294294-62294294 + sysucc-783T COSM5483787 c.1330T>A p.S444T Substitution - Missense 12:62384159-62384159 + TCGA-FW-A3R5-06 COSM3872229 c.2740C>T p.P914S Substitution - Missense 12:62404256-62404256 + 8013142 COSM1158942 c.2745T>A p.L915L Substitution - coding silent 12:62404261-62404261 + E21 COSM1666216 c.188G>T p.G63V Substitution - Missense 12:62294277-62294277 + SW1222 COSM4654712 c.2353G>A p.E785K Substitution - Missense 12:62393072-62393072 + TCGA-CW-5583-01 COSM468747 c.2567G>C p.G856A Substitution - Missense 12:62396378-62396378 + TCGA-FW-A3TU-06 COSM3464119 c.1994C>T p.S665F Substitution - Missense 12:62391190-62391190 + TCGA-FW-A3R5-06 COSM3872230 c.2827C>T p.P943S Substitution - Missense 12:62404256-62404256 + HCC120T COSM3704330 c.502A>G p.I168V Substitution - Missense 12:62321490-62321490 + TCGA-AN-A046-01 COSM3812745 c.2760T>A p.I920I Substitution - coding silent 12:62401272-62401272 + RK080_C01 COSM1628761 c.1615C>A p.P539T Substitution - Missense 12:62389846-62389846 + B80-3 COSM1747187 c.2824G>C p.D942H Substitution - Missense 12:62404340-62404340 + TCGA-G3-A25S-01 COSM4926725 c.1500A>G p.G500G Substitution - coding silent 12:62389457-62389457 + YUMOBER COSM5375756 c.379T>C p.C127R Substitution - Missense 12:62314820-62314820 + 2492730 COSM5728724 c.1275C>T p.N425N Substitution - coding silent 12:62384104-62384104 + TCGA-EW-A1IZ-01 COSM1476810 c.2221_2222delTT p.F741fs*1 Deletion - Frameshift 12:62392275-62392276 + TCGA-CM-6171-01 COSM5159786 c.2821delT p.P943fs*17 Deletion - Frameshift 12:62404250-62404250 + LUAD-VUMN6 COSM347832 c.2061C>G p.F687L Substitution - Missense 12:62391344-62391344 + TCGA-BH-A1EY-01 COSM1476809 c.774C>G p.G258G Substitution - coding silent 12:62355421-62355421 + CSCC-20-T COSM4484535 c.281C>T p.T94I Substitution - Missense 12:62302853-62302853 + YUMEZ COSM5375760 c.831G>A p.S277S Substitution - coding silent 12:62355391-62355391 + PT27 COSM5905933 c.839G>A p.G280E Substitution - Missense 12:62355399-62355399 + TCGA-BS-A0UA-01 COSM942344 c.1198C>T p.R400* Substitution - Nonsense 12:62384114-62384114 + ICGC_0061 COSM1159483 c.1430G>C p.C477S Substitution - Missense 12:62389474-62389474 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.434948;Hs.434951 12q14 604731

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAATAATAAT - IntronicDeletion . c.683+2006_683+2015delAAATAATAAT 12 62721720 CLL AC - Frameshift p.Y811*fs*1 c.2433_2434delCA 12 62786931 UCEC A C Missense p.D653A c.1958A>C 12 62785021 OV A C Missense p.L363F c.1089A>C 12 62777707 PRAD A C Missense p.M271L c.811A>C 12 62749239 RCCC A C SpliceAcceptorSNV . c.1758-2A>C 12 62784642 BRCA - A Frameshift p.P755Tfs*10 c.2262dupA 12 62786092 STAD - A Frameshift p.R731Kfs*4 c.2191dupA 12 62785634 GBM - A Frameshift p.R731Kfs*4 c.2191dupA 12 62785634 PRAD A G IntronicSNV . c.348+3015A>G 12 62699716 HC A G IntronicSNV . c.348+53A>G 12 62696754 NSCLC A G IntronicSNV . c.89+14437A>G 12 62668721 CLL A G Missense p.K791R c.2372A>G 12 62786871 MB A G Missense p.N192S c.575A>G 12 62715344 HNSC A G Missense p.N244S c.731A>G 12 62749159 HNSC A G Missense p.T240A c.718A>G 12 62749146 DLBCL A G Missense p.T821A c.2461A>G 12 62786960 STAD A G Missense p.Y846C c.2537A>G 12 62790128 HC A G Synonymous p.A479A c.1437A>G 12 62783261 BLCA A G Synonymous p.G346G c.1038A>G 12 62777656 PRAD A G Synonymous p.K750K c.2250A>G 12 62786084 BRCA A G Synonymous p.R731R c.2193A>G 12 62785642 CLL A T Synonymous p.I496I c.1488A>T 12 62783402 LUAD A T Synonymous p.V801V c.2403A>T 12 62786902 LUSC C A Missense p.L412I c.1234C>A 12 62777931 RCCC C A Missense p.Q608K c.1822C>A 12 62784708 PRAD C A Nonsense p.S558* c.1673C>A 12 62783684 CM C A Nonsense p.S558* c.1673C>A 12 62783684 LUAD C G Missense p.I827M c.2481C>G 12 62786980 ESCA C G Missense p.L133V c.397C>G 12 62708619 LUSC C G Missense p.P440A c.1318C>G 12 62778015 GBM C G Synonymous p.G258G c.774C>G 12 62749202 BRCA - C SpliceDonorInsertion . c.1161+2_1161+3insC 12 62777781 ALL C T Missense p.P839L c.2516C>T 12 62790107 CM C T Missense p.S833L c.2498C>T 12 62790089 CM C T Missense p.S893F c.2678C>T 12 62797974 CM C T Missense p.T134I c.401C>T 12 62708623 LUAD C T Nonsense p.Q638* c.1912C>T 12 62784975 LUAD C T Nonsense p.R400* c.1198C>T 12 62777895 UCEC C T Synonymous p.S893S c.2679C>T 12 62797975 CM G A IntronicSNV . c.829-2637G>A 12 62772634 PIA G A Missense p.C780Y c.2339G>A 12 62786838 BRCA G A Missense p.D156N c.466G>A 12 62708688 HNSC G A Missense p.D57N c.169G>A 12 62688039 PRAD G A Missense p.E668K c.2002G>A 12 62785065 LUAD G A Missense p.E934K c.2800G>A 12 62798096 BLCA G A Missense p.G266E c.797G>A 12 62749225 CM G A Missense p.G656E c.1967G>A 12 62785030 LUSC G A SpliceDonorSNV . c.1565+1G>A 12 62783480 ESCA G A Synonymous p.R713R c.2139G>A 12 62785202 BLCA - GATATCA Frameshift p.Y347Ifs*21 c.1037_1038insGATATCA 12 62777655 BRCA G C Missense p.C477S c.1430G>C 12 62783254 PAAD G C Missense p.G691R c.2071G>C 12 62785134 HNSC G C Missense p.G856A c.2567G>C 12 62790158 RCCC G C Missense p.K292N c.876G>C 12 62775318 BRCA G C Missense p.L367F c.1101G>C 12 62777719 BLCA G C Missense p.M184I c.552G>C 12 62715321 HNSC G C Missense p.M507I c.1521G>C 12 62783435 UCEC G C Missense p.Q902H c.2706G>C 12 62798002 RCCC G C Synonymous p.L848L c.2544G>C 12 62790135 BLCA G T Missense p.D351Y c.1051G>T 12 62777669 SCLC G T Missense p.D382Y c.1144G>T 12 62777762 RCCC G T Missense p.D880Y c.2638G>T 12 62795017 LUAD G T Missense p.G258V c.773G>T 12 62749201 LUSC G T Missense p.V124L c.370G>T 12 62708592 OV G T Nonsense p.E594* c.1780G>T 12 62784666 ESCA T A Missense p.C762S c.2284T>A 12 62786118 NB T A Synonymous p.L915L c.2745T>A 12 62798041 PAAD T C IntronicSNV . c.348+312T>C 12 62697013 HC T C Synonymous p.C419C c.1257T>C 12 62777954 GBM T C Synonymous p.F866F c.2598T>C 12 62794977 HNSC T G Missense p.D938E c.2814T>G 12 62798110 DLBCL T G Synonymous p.S810S c.2430T>G 12 62786929 ESCA