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 16 69874080 69874080 + Missense_Mutation SNP T T G TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr16:69874080T>G c.392T>G c.(391-393)gTt>gGt p.V131G ACC 16 69963355 69963355 + Silent SNP G G A TCGA-OR-A5LK-01A-11D-A29I-10 TCGA-OR-A5LK-10A-01D-A29L-10 g.chr16:69963355G>A c.1239G>A c.(1237-1239)aaG>aaA p.K413K BLCA 16 69833131 69833131 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr16:69833131G>C c.273G>C c.(271-273)ttG>ttC p.L91F BLCA 16 69942718 69942718 + Silent SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr16:69942718C>G c.969C>G c.(967-969)acC>acG p.T323T BLCA 16 69959346 69959346 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr16:69959346C>T c.1193C>T c.(1192-1194)tCg>tTg p.S398L BLCA 16 69964146 69964146 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr16:69964146C>T c.1430C>T c.(1429-1431)cCg>cTg p.P477L BLCA 16 69965776 69965776 + Missense_Mutation SNP C C A TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr16:69965776C>A c.1665C>A c.(1663-1665)gaC>gaA p.D555E BLCA 16 69967974 69967974 + Missense_Mutation SNP C C T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr16:69967974C>T c.1784C>T c.(1783-1785)tCc>tTc p.S595F BLCA 16 69969881 69969881 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr16:69969881C>G c.1968C>G c.(1966-1968)gtC>gtG p.V656V BLCA 16 69973022 69973022 + Silent SNP C C T TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr16:69973022C>T c.2436C>T c.(2434-2436)ctC>ctT p.L812L BRCA 16 69832690 69832690 + Missense_Mutation SNP G G A TCGA-AR-A1AN-01A-11D-A12Q-09 TCGA-AR-A1AN-10A-01D-A12Q-09 g.chr16:69832690G>A c.176G>A c.(175-177)cGc>cAc p.R59H BRCA 16 69874100 69874100 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr16:69874100A>T c.412A>T c.(412-414)Aca>Tca p.T138S BRCA 16 69922069 69922069 + Silent SNP A A C TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 g.chr16:69922069A>C c.831A>C c.(829-831)acA>acC p.T277T BRCA 16 69951724 69951724 + Nonsense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr16:69951724C>T c.1117C>T c.(1117-1119)Cag>Tag p.Q373* BRCA 16 69959378 69959378 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:69959378C>G c.1225C>G c.(1225-1227)Cct>Gct p.P409A BRCA 16 69965781 69965781 + Missense_Mutation SNP G G C TCGA-BH-A5IZ-01A-11D-A27P-09 TCGA-BH-A5IZ-11A-13D-A27P-09 g.chr16:69965781G>C c.1670G>C c.(1669-1671)gGg>gCg p.G557A BRCA 16 69965781 69965781 + Missense_Mutation SNP G G T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr16:69965781G>T c.1670G>T c.(1669-1671)gGg>gTg p.G557V BRCA 16 69969793 69969793 + Missense_Mutation SNP C C T TCGA-E2-A15D-01A-11D-A10Y-09 TCGA-E2-A15D-10A-01D-A110-09 g.chr16:69969793C>T c.1880C>T c.(1879-1881)aCc>aTc p.T627I BRCA 16 69970309 69970309 + Missense_Mutation SNP G G A TCGA-A8-A06O-01A-11W-A019-09 TCGA-A8-A06O-10A-01W-A021-09 g.chr16:69970309G>A c.2071G>A c.(2071-2073)Ggc>Agc p.G691S BRCA 16 69971129 69971129 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:69971129G>C c.2226G>C c.(2224-2226)gaG>gaC p.E742D BRCA 16 69971470 69971470 + Missense_Mutation SNP A A T TCGA-A2-A0CW-01A-21D-A10Y-09 TCGA-A2-A0CW-10A-01D-A110-09 g.chr16:69971470A>T c.2258A>T c.(2257-2259)cAg>cTg p.Q753L BRCA 16 69972999 69972999 + Frame_Shift_Del DEL C C - TCGA-AR-A1AQ-01A-11D-A12Q-09 TCGA-AR-A1AQ-10A-01D-A12Q-09 g.chr16:69972999delC c.2413delC c.(2413-2415)cccfs p.P805fs BRCA 16 69973017 69973017 + Missense_Mutation SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr16:69973017G>A c.2431G>A c.(2431-2433)Gaa>Aaa p.E811K BRCA 16 69973789 69973789 + Silent SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr16:69973789G>C c.2559G>C c.(2557-2559)ctG>ctC p.L853L CESC 16 69874086 69874086 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr16:69874086C>T c.398C>T c.(397-399)tCa>tTa p.S133L CESC 16 69874115 69874115 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr16:69874115G>A c.427G>A c.(427-429)Ggg>Agg p.G143R CESC 16 69968006 69968006 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr16:69968006C>T c.1816C>T c.(1816-1818)Cgc>Tgc p.R606C CESC 16 69971535 69971535 + Nonsense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 g.chr16:69971535C>T c.2323C>T c.(2323-2325)Cag>Tag p.Q775* CHOL 16 69874107 69874107 + Missense_Mutation SNP T T A TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr16:69874107T>A c.419T>A c.(418-420)tTc>tAc p.F140Y CHOL 16 69921986 69921986 + Missense_Mutation SNP G G T TCGA-W5-AA2Z-01A-11D-A417-09 TCGA-W5-AA2Z-11A-11D-A41A-09 g.chr16:69921986G>T c.748G>T c.(748-750)Gtt>Ttt p.V250F COAD 16 69833092 69833092 + Missense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:69833092G>T c.234G>T c.(232-234)caG>caT p.Q78H COAD 16 69833188 69833188 + Silent SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr16:69833188T>C c.330T>C c.(328-330)aaT>aaC p.N110N COAD 16 69921977 69921977 + Nonsense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:69921977G>T c.739G>T c.(739-741)Gaa>Taa p.E247* COAD 16 69922032 69922032 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:69922032C>T c.794C>T c.(793-795)cCg>cTg p.P265L COAD 16 69922111 69922111 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr16:69922111G>A c.873G>A c.(871-873)caG>caA p.Q291Q COAD 16 69951729 69951729 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:69951729G>A c.1122G>A c.(1120-1122)tcG>tcA p.S374S COAD 16 69951778 69951778 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:69951778C>A c.1171C>A c.(1171-1173)Ctc>Atc p.L391I COAD 16 69964047 69964047 + Missense_Mutation SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:69964047C>A c.1331C>A c.(1330-1332)cCa>cAa p.P444Q COAD 16 69964055 69964055 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:69964055C>T c.1339C>T c.(1339-1341)Ccc>Tcc p.P447S COAD 16 69965751 69965751 + Missense_Mutation SNP T T C TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr16:69965751T>C c.1640T>C c.(1639-1641)aTc>aCc p.I547T COAD 16 69965756 69965756 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:69965756C>T c.1645C>T c.(1645-1647)Cgt>Tgt p.R549C COAD 16 69971486 69971486 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr16:69971486C>T c.2274C>T c.(2272-2274)agC>agT p.S758S COAD 16 69971486 69971486 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:69971486C>T c.2274C>T c.(2272-2274)agC>agT p.S758S COADREAD 16 69833092 69833092 + Missense_Mutation SNP G G T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:69833092G>T c.234G>T c.(232-234)caG>caT p.Q78H COADREAD 16 69833188 69833188 + Silent SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr16:69833188T>C c.330T>C c.(328-330)aaT>aaC p.N110N COADREAD 16 69905710 69905710 + Silent SNP G G A TCGA-AG-3581-01A-01W-0831-10 TCGA-AG-3581-10A-01W-0831-10 g.chr16:69905710G>A c.579G>A c.(577-579)acG>acA p.T193T COADREAD 16 69921977 69921977 + Nonsense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:69921977G>T c.739G>T c.(739-741)Gaa>Taa p.E247* COADREAD 16 69922032 69922032 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:69922032C>T c.794C>T c.(793-795)cCg>cTg p.P265L COADREAD 16 69922111 69922111 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr16:69922111G>A c.873G>A c.(871-873)caG>caA p.Q291Q COADREAD 16 69951729 69951729 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:69951729G>A c.1122G>A c.(1120-1122)tcG>tcA p.S374S COADREAD 16 69951778 69951778 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:69951778C>A c.1171C>A c.(1171-1173)Ctc>Atc p.L391I COADREAD 16 69964047 69964047 + Missense_Mutation SNP C C A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:69964047C>A c.1331C>A c.(1330-1332)cCa>cAa p.P444Q COADREAD 16 69964055 69964055 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:69964055C>T c.1339C>T c.(1339-1341)Ccc>Tcc p.P447S COADREAD 16 69965465 69965465 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:69965465C>T c.1575C>T c.(1573-1575)ttC>ttT p.F525F COADREAD 16 69965751 69965751 + Missense_Mutation SNP T T C TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr16:69965751T>C c.1640T>C c.(1639-1641)aTc>aCc p.I547T COADREAD 16 69965756 69965756 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:69965756C>T c.1645C>T c.(1645-1647)Cgt>Tgt p.R549C COADREAD 16 69971053 69971053 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr16:69971053T>C c.2150T>C c.(2149-2151)gTg>gCg p.V717A COADREAD 16 69971486 69971486 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr16:69971486C>T c.2274C>T c.(2272-2274)agC>agT p.S758S COADREAD 16 69971486 69971486 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:69971486C>T c.2274C>T c.(2272-2274)agC>agT p.S758S DLBC 16 69922079 69922079 + Missense_Mutation SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr16:69922079G>A c.841G>A c.(841-843)Gga>Aga p.G281R ESCA 16 69820935 69820935 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr16:69820935C>T c.22C>T c.(22-24)Cgg>Tgg p.R8W ESCA 16 69921970 69921971 + Frame_Shift_Ins INS - - C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr16:69921970_69921971insC c.732_733insC c.(733-735)cccfs p.P245fs ESCA 16 69967973 69967973 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr16:69967973T>C c.1783T>C c.(1783-1785)Tcc>Ccc p.S595P GBM 16 69973830 69973830 + Missense_Mutation SNP T T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr16:69973830T>C c.2600T>C c.(2599-2601)tTt>tCt p.F867S GBMLGG 16 69833165 69833166 + Frame_Shift_Del DEL CT CT - TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr16:69833165_69833166delCT c.307_308delCT c.(307-309)ctcfs p.L103fs GBMLGG 16 69874117 69874117 + Silent SNP G G A TCGA-S9-A6U2-01A-21D-A33T-08 TCGA-S9-A6U2-10A-01D-A33W-08 g.chr16:69874117G>A c.429G>A c.(427-429)ggG>ggA p.G143G GBMLGG 16 69971126 69971126 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 g.chr16:69971126C>T c.2223C>T c.(2221-2223)gaC>gaT p.D741D GBMLGG 16 69973830 69973830 + Missense_Mutation SNP T T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 g.chr16:69973830T>C c.2600T>C c.(2599-2601)tTt>tCt p.F867S HNSC 16 69833085 69833085 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr16:69833085C>T c.227C>T c.(226-228)aCg>aTg p.T76M HNSC 16 69874094 69874094 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:69874094G>A c.406G>A c.(406-408)Gag>Aag p.E136K HNSC 16 69874115 69874115 + Missense_Mutation SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 g.chr16:69874115G>C c.427G>C c.(427-429)Ggg>Cgg p.G143R HNSC 16 69874117 69874117 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:69874117G>A c.429G>A c.(427-429)ggG>ggA p.G143G HNSC 16 69874159 69874159 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr16:69874159G>A c.471G>A c.(469-471)ctG>ctA p.L157L HNSC 16 69874159 69874159 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr16:69874159G>C c.471G>C c.(469-471)ctG>ctC p.L157L HNSC 16 69922039 69922039 + Silent SNP C C A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 g.chr16:69922039C>A c.801C>A c.(799-801)ccC>ccA p.P267P HNSC 16 69963428 69963428 + Nonsense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 g.chr16:69963428C>T c.1312C>T c.(1312-1314)Cag>Tag p.Q438* HNSC 16 69965757 69965757 + Missense_Mutation SNP G G A TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr16:69965757G>A c.1646G>A c.(1645-1647)cGt>cAt p.R549H HNSC 16 69969816 69969816 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr16:69969816C>T c.1903C>T c.(1903-1905)Ctc>Ttc p.L635F HNSC 16 69971036 69971036 + Nonsense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr16:69971036G>A c.2133G>A c.(2131-2133)tgG>tgA p.W711* KIPAN 16 69820957 69820957 + Missense_Mutation SNP T T A TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr16:69820957T>A c.44T>A c.(43-45)tTt>tAt p.F15Y KIPAN 16 69832614 69832614 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr16:69832614C>T c.100C>T c.(100-102)Cgt>Tgt p.R34C KIPAN 16 69964089 69964089 + Missense_Mutation SNP G G C TCGA-AK-3454-01A-02D-1361-10 TCGA-AK-3454-10A-01D-1361-10 g.chr16:69964089G>C c.1373G>C c.(1372-1374)gGg>gCg p.G458A KIPAN 16 69964089 69964089 + Missense_Mutation SNP G G C TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr16:69964089G>C c.1373G>C c.(1372-1374)gGg>gCg p.G458A KIRC 16 69832614 69832614 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr16:69832614C>T c.100C>T c.(100-102)Cgt>Tgt p.R34C KIRC 16 69964089 69964089 + Missense_Mutation SNP G G C TCGA-AK-3454-01A-02D-1361-10 TCGA-AK-3454-10A-01D-1361-10 g.chr16:69964089G>C c.1373G>C c.(1372-1374)gGg>gCg p.G458A KIRC 16 69964089 69964089 + Missense_Mutation SNP G G C TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr16:69964089G>C c.1373G>C c.(1372-1374)gGg>gCg p.G458A KIRP 16 69820957 69820957 + Missense_Mutation SNP T T A TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr16:69820957T>A c.44T>A c.(43-45)tTt>tAt p.F15Y LGG 16 69833165 69833166 + Frame_Shift_Del DEL CT CT - TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr16:69833165_69833166delCT c.307_308delCT c.(307-309)ctcfs p.L103fs LGG 16 69874117 69874117 + Silent SNP G G A TCGA-S9-A6U2-01A-21D-A33T-08 TCGA-S9-A6U2-10A-01D-A33W-08 g.chr16:69874117G>A c.429G>A c.(427-429)ggG>ggA p.G143G LGG 16 69971126 69971126 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 g.chr16:69971126C>T c.2223C>T c.(2221-2223)gaC>gaT p.D741D LIHC 16 69959360 69959360 + Missense_Mutation SNP C C T TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr16:69959360C>T c.1207C>T c.(1207-1209)Ccc>Tcc p.P403S LIHC 16 69973254 69973254 + Silent SNP A A G TCGA-DD-A73A-01A-12D-A32G-10 TCGA-DD-A73A-10A-01D-A32G-10 g.chr16:69973254A>G c.2451A>G c.(2449-2451)ggA>ggG p.G817G LUAD 16 69833132 69833132 + Frame_Shift_Del DEL A A - TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chr16:69833132delA c.274delA c.(274-276)agafs p.R92fs LUAD 16 69833148 69833148 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr16:69833148G>T c.290G>T c.(289-291)gGc>gTc p.G97V LUAD 16 69875930 69875930 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr16:69875930C>T c.482C>T c.(481-483)tCa>tTa p.S161L LUAD 16 69942663 69942663 + Splice_Site SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr16:69942663G>T c.e9-1 LUAD 16 69964119 69964119 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr16:69964119G>T c.1403G>T c.(1402-1404)cGc>cTc p.R468L LUAD 16 69965411 69965411 + Splice_Site SNP G G A TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 g.chr16:69965411G>A c.e15-1 LUAD 16 69965789 69965789 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr16:69965789G>T c.1678G>T c.(1678-1680)Gcc>Tcc p.A560S LUAD 16 69970320 69970320 + Silent SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr16:69970320C>T c.2082C>T c.(2080-2082)atC>atT p.I694I LUSC 16 69874130 69874130 + Silent SNP C C T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr16:69874130C>T c.442C>T c.(442-444)Ctg>Ttg p.L148L LUSC 16 69965469 69965469 + Missense_Mutation SNP G G T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr16:69965469G>T c.1579G>T c.(1579-1581)Gat>Tat p.D527Y LUSC 16 69973306 69973306 + Missense_Mutation SNP A A G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr16:69973306A>G c.2503A>G c.(2503-2505)Agc>Ggc p.S835G OV 16 69967992 69967992 + Frame_Shift_Del DEL A A - TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 g.chr16:69967992delA c.1802delA c.(1801-1803)cacfs p.H601fs PAAD 16 69832593 69832593 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr16:69832593G>A c.79G>A c.(79-81)Gca>Aca p.A27T PAAD 16 69832593 69832593 + Missense_Mutation SNP G G A TCGA-US-A77E-01A-11D-A32N-08 TCGA-US-A77E-11A-11D-A32N-08 g.chr16:69832593G>A c.79G>A c.(79-81)Gca>Aca p.A27T PAAD 16 69922018 69922018 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:69922018C>A c.780C>A c.(778-780)ccC>ccA p.P260P PAAD 16 69951707 69951707 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr16:69951707G>A c.1100G>A c.(1099-1101)cGc>cAc p.R367H PAAD 16 69969883 69969883 + Nonsense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chr16:69969883G>A c.1970G>A c.(1969-1971)tGg>tAg p.W657* PAAD 16 69971090 69971090 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:69971090C>T c.2187C>T c.(2185-2187)aaC>aaT p.N729N PRAD 16 69965459 69965459 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:69965459G>A c.1569G>A c.(1567-1569)acG>acA p.T523T PRAD 16 69973026 69973026 + Splice_Site SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:69973026G>A c.2440G>A c.(2440-2442)Ggt>Agt p.G814S READ 16 69905710 69905710 + Silent SNP G G A TCGA-AG-3581-01A-01W-0831-10 TCGA-AG-3581-10A-01W-0831-10 g.chr16:69905710G>A c.579G>A c.(577-579)acG>acA p.T193T READ 16 69965465 69965465 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:69965465C>T c.1575C>T c.(1573-1575)ttC>ttT p.F525F READ 16 69971053 69971053 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr16:69971053T>C c.2150T>C c.(2149-2151)gTg>gCg p.V717A SARC 16 69832714 69832714 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 g.chr16:69832714G>T c.200G>T c.(199-201)tGg>tTg p.W67L SKCM 16 69832662 69832662 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr16:69832662C>T c.148C>T c.(148-150)Ccc>Tcc p.P50S SKCM 16 69874163 69874163 + Missense_Mutation SNP G G A TCGA-GN-A264-06A-11D-A196-08 TCGA-GN-A264-10A-01D-A198-08 g.chr16:69874163G>A c.475G>A c.(475-477)Gat>Aat p.D159N SKCM 16 69875994 69875994 + Silent SNP C C A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr16:69875994C>A c.546C>A c.(544-546)ccC>ccA p.P182P SKCM 16 69922004 69922004 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:69922004C>T c.766C>T c.(766-768)Cca>Tca p.P256S SKCM 16 69951744 69951744 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr16:69951744C>T c.1137C>T c.(1135-1137)ctC>ctT p.L379L SKCM 16 69959346 69959346 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:69959346C>T c.1193C>T c.(1192-1194)tCg>tTg p.S398L SKCM 16 69965070 69965070 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr16:69965070C>T c.1461C>T c.(1459-1461)tcC>tcT p.S487S SKCM 16 69965095 69965095 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr16:69965095C>T c.1486C>T c.(1486-1488)Cgg>Tgg p.R496W SKCM 16 69965107 69965107 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr16:69965107C>T c.1498C>T c.(1498-1500)Cac>Tac p.H500Y SKCM 16 69965483 69965483 + Splice_Site SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr16:69965483G>A c.1593G>A c.(1591-1593)caG>caA p.Q531Q SKCM 16 69965485 69965485 + Splice_Site SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr16:69965485T>C c.e15+2 SKCM 16 69965788 69965788 + Silent SNP C C T TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr16:69965788C>T c.1677C>T c.(1675-1677)atC>atT p.I559I SKCM 16 69969797 69969797 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:69969797C>T c.1884C>T c.(1882-1884)ctC>ctT p.L628L SKCM 16 69969857 69969857 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr16:69969857C>T c.1944C>T c.(1942-1944)gaC>gaT p.D648D SKCM 16 69970275 69970275 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr16:69970275G>A c.2037G>A c.(2035-2037)ctG>ctA p.L679L SKCM 16 69970276 69970276 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr16:69970276G>A c.2038G>A c.(2038-2040)Ggc>Agc p.G680S SKCM 16 69973005 69973005 + Frame_Shift_Del DEL G G - TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr16:69973005delG c.2419delG c.(2419-2421)gggfs p.G808fs

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 16 69969757 69969757 single base substitution C T downstream_gene_variant AML-US 16 69969757 69969757 single base substitution C T missense_variant A176V 527C>T AML-US 16 69969757 69969757 single base substitution C T missense_variant A499V 1496C>T AML-US 16 69969757 69969757 single base substitution C T missense_variant A615V 1844C>T AML-US 16 69969757 69969757 single base substitution C T splice_region_variant AML-US 16 69969757 69969757 single base substitution C T upstream_gene_variant BLCA-CN 16 69922037 69922037 single base substitution C T exon_variant BLCA-CN 16 69922037 69922037 single base substitution C T missense_variant P151S 451C>T BLCA-CN 16 69922037 69922037 single base substitution C T missense_variant P267S 799C>T BLCA-CN 16 69922037 69922037 single base substitution C T upstream_gene_variant BLCA-CN 16 69922062 69922062 single base substitution C A downstream_gene_variant BLCA-CN 16 69922062 69922062 single base substitution C A exon_variant BLCA-CN 16 69922062 69922062 single base substitution C A missense_variant P159Q 476C>A BLCA-CN 16 69922062 69922062 single base substitution C A missense_variant P275Q 824C>A BLCA-CN 16 69922062 69922062 single base substitution C A upstream_gene_variant BLCA-US 16 69959346 69959346 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 16 69959346 69959346 single base substitution C T exon_variant BLCA-US 16 69959346 69959346 single base substitution C T missense_variant S282L 845C>T BLCA-US 16 69959346 69959346 single base substitution C T missense_variant S398L 1193C>T BLCA-US 16 69959346 69959346 single base substitution C T upstream_gene_variant BLCA-US 16 69964146 69964146 single base substitution C T downstream_gene_variant BLCA-US 16 69964146 69964146 single base substitution C T exon_variant BLCA-US 16 69964146 69964146 single base substitution C T missense_variant P361L 1082C>T BLCA-US 16 69964146 69964146 single base substitution C T missense_variant P38L 113C>T BLCA-US 16 69964146 69964146 single base substitution C T missense_variant P477L 1430C>T BLCA-US 16 69964146 69964146 single base substitution C T upstream_gene_variant BOCA-FR 16 69796164 69796164 single base substitution C A upstream_gene_variant BOCA-FR 16 69838626 69838626 single base substitution C T intron_variant BOCA-FR 16 69861354 69861354 single base substitution A G intron_variant BRCA-EU 16 69791892 69791892 single base substitution C G upstream_gene_variant BRCA-EU 16 69793038 69793038 single base substitution C T upstream_gene_variant BRCA-EU 16 69793962 69793962 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 69794292 69794292 single base substitution C T upstream_gene_variant BRCA-EU 16 69794354 69794354 single base substitution C G upstream_gene_variant BRCA-EU 16 69794503 69794503 single base substitution C A upstream_gene_variant BRCA-EU 16 69794928 69794928 single base substitution T G upstream_gene_variant BRCA-EU 16 69796578 69796578 single base substitution G A intron_variant BRCA-EU 16 69796726 69796726 insertion of <=200bp - C intron_variant BRCA-EU 16 69798645 69798645 single base substitution G C intron_variant BRCA-EU 16 69799148 69799148 deletion of <=200bp T - intron_variant BRCA-EU 16 69799156 69799156 single base substitution T C intron_variant BRCA-EU 16 69800016 69800016 single base substitution G A intron_variant BRCA-EU 16 69801695 69801695 single base substitution T G intron_variant BRCA-EU 16 69802959 69802959 single base substitution C T intron_variant BRCA-EU 16 69804330 69804330 single base substitution G A intron_variant BRCA-EU 16 69805264 69805264 single base substitution C T intron_variant BRCA-EU 16 69805264 69805264 single base substitution C T upstream_gene_variant BRCA-EU 16 69805295 69805295 single base substitution G C intron_variant BRCA-EU 16 69805295 69805295 single base substitution G C upstream_gene_variant BRCA-EU 16 69805980 69805980 single base substitution G A intron_variant BRCA-EU 16 69805980 69805980 single base substitution G A upstream_gene_variant BRCA-EU 16 69807210 69807210 single base substitution T C intron_variant BRCA-EU 16 69807210 69807210 single base substitution T C upstream_gene_variant BRCA-EU 16 69808379 69808379 single base substitution C T intron_variant BRCA-EU 16 69808379 69808379 single base substitution C T upstream_gene_variant BRCA-EU 16 69808514 69808514 single base substitution C T intron_variant BRCA-EU 16 69808514 69808514 single base substitution C T upstream_gene_variant BRCA-EU 16 69808520 69808520 single base substitution C T intron_variant BRCA-EU 16 69808520 69808520 single base substitution C T upstream_gene_variant BRCA-EU 16 69809125 69809125 single base substitution C G intron_variant BRCA-EU 16 69809125 69809125 single base substitution C G upstream_gene_variant BRCA-EU 16 69809260 69809260 single base substitution C T intron_variant BRCA-EU 16 69809260 69809260 single base substitution C T upstream_gene_variant BRCA-EU 16 69809356 69809356 single base substitution C T intron_variant BRCA-EU 16 69809356 69809356 single base substitution C T upstream_gene_variant BRCA-EU 16 69809531 69809531 single base substitution C A intron_variant BRCA-EU 16 69809531 69809531 single base substitution C A upstream_gene_variant BRCA-EU 16 69810010 69810010 single base substitution C G intron_variant BRCA-EU 16 69810010 69810010 single base substitution C G upstream_gene_variant BRCA-EU 16 69810435 69810435 single base substitution A G intron_variant BRCA-EU 16 69810726 69810726 single base substitution C T intron_variant BRCA-EU 16 69811924 69811924 single base substitution G A intron_variant BRCA-EU 16 69812606 69812606 single base substitution G A intron_variant BRCA-EU 16 69813796 69813796 single base substitution T C intron_variant BRCA-EU 16 69814544 69814544 single base substitution G A intron_variant BRCA-EU 16 69815038 69815038 deletion of <=200bp A - intron_variant BRCA-EU 16 69815911 69815911 single base substitution C T intron_variant BRCA-EU 16 69815911 69815911 single base substitution C T upstream_gene_variant BRCA-EU 16 69816347 69816347 deletion of <=200bp C - intron_variant BRCA-EU 16 69816347 69816347 deletion of <=200bp C - upstream_gene_variant BRCA-EU 16 69816567 69816567 single base substitution G A intron_variant BRCA-EU 16 69816567 69816567 single base substitution G A upstream_gene_variant BRCA-EU 16 69819546 69819546 single base substitution T C intron_variant BRCA-EU 16 69819546 69819546 single base substitution T C upstream_gene_variant BRCA-EU 16 69824478 69824478 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 69824478 69824478 deletion of <=200bp T - intron_variant BRCA-EU 16 69824798 69824798 single base substitution A G downstream_gene_variant BRCA-EU 16 69824798 69824798 single base substitution A G intron_variant BRCA-EU 16 69826990 69826990 single base substitution G A downstream_gene_variant BRCA-EU 16 69826990 69826990 single base substitution G A intron_variant BRCA-EU 16 69827733 69827733 single base substitution C A intron_variant BRCA-EU 16 69831555 69831555 single base substitution G C intron_variant BRCA-EU 16 69831555 69831555 single base substitution G C upstream_gene_variant BRCA-EU 16 69831965 69831965 single base substitution C G intron_variant BRCA-EU 16 69831965 69831965 single base substitution C G upstream_gene_variant BRCA-EU 16 69832199 69832199 single base substitution A G intron_variant BRCA-EU 16 69832199 69832199 single base substitution A G upstream_gene_variant BRCA-EU 16 69832913 69832913 single base substitution C G downstream_gene_variant BRCA-EU 16 69832913 69832913 single base substitution C G intron_variant BRCA-EU 16 69832913 69832913 single base substitution C G upstream_gene_variant BRCA-EU 16 69833131 69833131 single base substitution G C downstream_gene_variant BRCA-EU 16 69833131 69833131 single base substitution G C exon_variant BRCA-EU 16 69833131 69833131 single base substitution G C missense_variant L91F 273G>C BRCA-EU 16 69833336 69833336 single base substitution T A downstream_gene_variant BRCA-EU 16 69833336 69833336 single base substitution T A exon_variant BRCA-EU 16 69833336 69833336 single base substitution T A intron_variant BRCA-EU 16 69833756 69833756 single base substitution G A downstream_gene_variant BRCA-EU 16 69833756 69833756 single base substitution G A intron_variant BRCA-EU 16 69834786 69834786 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 69834786 69834786 insertion of <=200bp - T intron_variant BRCA-EU 16 69835843 69835843 single base substitution T A downstream_gene_variant BRCA-EU 16 69835843 69835843 single base substitution T A intron_variant BRCA-EU 16 69837234 69837234 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 69837234 69837234 deletion of <=200bp T - intron_variant BRCA-EU 16 69837624 69837624 single base substitution A G downstream_gene_variant BRCA-EU 16 69837624 69837624 single base substitution A G intron_variant BRCA-EU 16 69837969 69837969 single base substitution C G downstream_gene_variant BRCA-EU 16 69837969 69837969 single base substitution C G intron_variant BRCA-EU 16 69838198 69838198 single base substitution G A downstream_gene_variant BRCA-EU 16 69838198 69838198 single base substitution G A intron_variant BRCA-EU 16 69838522 69838522 insertion of <=200bp - T intron_variant BRCA-EU 16 69839523 69839523 deletion of <=200bp T - intron_variant BRCA-EU 16 69839612 69839612 single base substitution C G intron_variant BRCA-EU 16 69839725 69839725 single base substitution G T intron_variant BRCA-EU 16 69839736 69839736 single base substitution G A intron_variant BRCA-EU 16 69842313 69842313 single base substitution A C intron_variant BRCA-EU 16 69842784 69842784 single base substitution C T intron_variant BRCA-EU 16 69842868 69842868 single base substitution C A intron_variant BRCA-EU 16 69843238 69843238 single base substitution C T intron_variant BRCA-EU 16 69846268 69846268 single base substitution A G intron_variant BRCA-EU 16 69846995 69846995 single base substitution G C intron_variant BRCA-EU 16 69847083 69847083 single base substitution G C intron_variant BRCA-EU 16 69847360 69847360 single base substitution C T intron_variant BRCA-EU 16 69847555 69847555 single base substitution G C intron_variant BRCA-EU 16 69847971 69847996 deletion of <=200bp GGGATTCGGGGACACACTTGTTTGAG - intron_variant BRCA-EU 16 69850913 69850913 single base substitution C T intron_variant BRCA-EU 16 69850933 69850933 single base substitution T G intron_variant BRCA-EU 16 69851148 69851148 single base substitution G A intron_variant BRCA-EU 16 69851156 69851156 single base substitution T C intron_variant BRCA-EU 16 69851236 69851236 single base substitution C T intron_variant BRCA-EU 16 69851250 69851250 single base substitution C T intron_variant BRCA-EU 16 69851259 69851259 single base substitution C T intron_variant BRCA-EU 16 69851748 69851748 single base substitution C T intron_variant BRCA-EU 16 69854964 69854964 single base substitution G A intron_variant BRCA-EU 16 69855237 69855237 single base substitution G C intron_variant BRCA-EU 16 69855829 69855829 single base substitution C T intron_variant BRCA-EU 16 69858862 69858862 single base substitution T C intron_variant BRCA-EU 16 69859228 69859228 single base substitution G A intron_variant BRCA-EU 16 69859471 69859471 single base substitution G A intron_variant BRCA-EU 16 69861254 69861254 single base substitution G A intron_variant BRCA-EU 16 69862739 69862739 single base substitution C T intron_variant BRCA-EU 16 69863416 69863416 single base substitution A G intron_variant BRCA-EU 16 69864309 69864309 single base substitution A G intron_variant BRCA-EU 16 69864379 69864379 single base substitution G C intron_variant BRCA-EU 16 69865834 69865834 single base substitution C A intron_variant BRCA-EU 16 69870208 69870208 single base substitution G C intron_variant BRCA-EU 16 69870208 69870208 single base substitution G C upstream_gene_variant BRCA-EU 16 69870900 69870900 single base substitution C T intron_variant BRCA-EU 16 69870900 69870900 single base substitution C T upstream_gene_variant BRCA-EU 16 69873851 69873851 single base substitution T G intron_variant BRCA-EU 16 69874291 69874291 single base substitution T C downstream_gene_variant BRCA-EU 16 69874291 69874291 single base substitution T C intron_variant BRCA-EU 16 69875014 69875014 single base substitution G C downstream_gene_variant BRCA-EU 16 69875014 69875014 single base substitution G C intron_variant BRCA-EU 16 69876325 69876325 single base substitution C G downstream_gene_variant BRCA-EU 16 69876325 69876325 single base substitution C G intron_variant BRCA-EU 16 69876354 69876354 single base substitution G C downstream_gene_variant BRCA-EU 16 69876354 69876354 single base substitution G C intron_variant BRCA-EU 16 69877164 69877164 single base substitution G T downstream_gene_variant BRCA-EU 16 69877164 69877164 single base substitution G T intron_variant BRCA-EU 16 69877416 69877416 single base substitution G A downstream_gene_variant BRCA-EU 16 69877416 69877416 single base substitution G A intron_variant BRCA-EU 16 69878669 69878669 single base substitution G C downstream_gene_variant BRCA-EU 16 69878669 69878669 single base substitution G C intron_variant BRCA-EU 16 69880971 69880971 single base substitution C T intron_variant BRCA-EU 16 69881270 69881270 single base substitution G A intron_variant BRCA-EU 16 69882947 69882947 single base substitution T C intron_variant BRCA-EU 16 69883974 69883974 single base substitution C T intron_variant BRCA-EU 16 69884753 69884753 deletion of <=200bp T - intron_variant BRCA-EU 16 69884753 69884753 insertion of <=200bp - T intron_variant BRCA-EU 16 69884809 69884809 single base substitution C A intron_variant BRCA-EU 16 69889005 69889005 single base substitution C T intron_variant BRCA-EU 16 69889225 69889225 deletion of <=200bp T - intron_variant BRCA-EU 16 69891009 69891009 deletion of <=200bp T - intron_variant BRCA-EU 16 69892766 69892766 single base substitution G T intron_variant BRCA-EU 16 69895409 69895409 single base substitution C A intron_variant BRCA-EU 16 69895415 69895415 single base substitution C T intron_variant BRCA-EU 16 69895450 69895450 single base substitution G C intron_variant BRCA-EU 16 69896318 69896318 single base substitution C T intron_variant BRCA-EU 16 69897282 69897282 single base substitution C T intron_variant BRCA-EU 16 69898477 69898477 single base substitution G C intron_variant BRCA-EU 16 69898487 69898487 single base substitution C G intron_variant BRCA-EU 16 69898643 69898643 single base substitution G C intron_variant BRCA-EU 16 69898835 69898835 single base substitution G C intron_variant BRCA-EU 16 69898964 69898964 deletion of <=200bp T - intron_variant BRCA-EU 16 69899893 69899893 single base substitution G A intron_variant BRCA-EU 16 69900277 69900277 single base substitution C A intron_variant BRCA-EU 16 69901749 69901749 single base substitution A C intron_variant BRCA-EU 16 69901749 69901749 single base substitution A C upstream_gene_variant BRCA-EU 16 69904943 69904943 single base substitution C G intron_variant BRCA-EU 16 69904943 69904943 single base substitution C G upstream_gene_variant BRCA-EU 16 69906430 69906431 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 16 69906430 69906431 deletion of <=200bp TC - intron_variant BRCA-EU 16 69908371 69908371 single base substitution G A downstream_gene_variant BRCA-EU 16 69908371 69908371 single base substitution G A intron_variant BRCA-EU 16 69910131 69910131 single base substitution G C downstream_gene_variant BRCA-EU 16 69910131 69910131 single base substitution G C intron_variant BRCA-EU 16 69910451 69910451 single base substitution G A downstream_gene_variant BRCA-EU 16 69910451 69910451 single base substitution G A intron_variant BRCA-EU 16 69913942 69913942 insertion of <=200bp - T intron_variant BRCA-EU 16 69915510 69915510 single base substitution G C intron_variant BRCA-EU 16 69915632 69915632 single base substitution T C intron_variant BRCA-EU 16 69915744 69915744 single base substitution G A intron_variant BRCA-EU 16 69916146 69916146 single base substitution A C intron_variant BRCA-EU 16 69917495 69917495 single base substitution G A intron_variant BRCA-EU 16 69919142 69919142 insertion of <=200bp - T intron_variant BRCA-EU 16 69919392 69919392 single base substitution T C intron_variant BRCA-EU 16 69922952 69922952 single base substitution G A downstream_gene_variant BRCA-EU 16 69922952 69922952 single base substitution G A intron_variant BRCA-EU 16 69922952 69922952 single base substitution G A upstream_gene_variant BRCA-EU 16 69923439 69923439 single base substitution T C downstream_gene_variant BRCA-EU 16 69923439 69923439 single base substitution T C intron_variant BRCA-EU 16 69923439 69923439 single base substitution T C upstream_gene_variant BRCA-EU 16 69925257 69925257 single base substitution G A downstream_gene_variant BRCA-EU 16 69925257 69925257 single base substitution G A intron_variant BRCA-EU 16 69925257 69925257 single base substitution G A upstream_gene_variant BRCA-EU 16 69926902 69926902 single base substitution A T downstream_gene_variant BRCA-EU 16 69926902 69926902 single base substitution A T intron_variant BRCA-EU 16 69926902 69926902 single base substitution A T upstream_gene_variant BRCA-EU 16 69927334 69927334 single base substitution A G intron_variant BRCA-EU 16 69927334 69927334 single base substitution A G upstream_gene_variant BRCA-EU 16 69927792 69927792 single base substitution T G intron_variant BRCA-EU 16 69927792 69927792 single base substitution T G upstream_gene_variant BRCA-EU 16 69931093 69931093 single base substitution C T intron_variant BRCA-EU 16 69932867 69932867 single base substitution A G intron_variant BRCA-EU 16 69933264 69933264 single base substitution A G intron_variant BRCA-EU 16 69933995 69933995 deletion of <=200bp T - intron_variant BRCA-EU 16 69934460 69934460 single base substitution C A intron_variant BRCA-EU 16 69935307 69935307 single base substitution C T intron_variant BRCA-EU 16 69937572 69937572 single base substitution G A intron_variant BRCA-EU 16 69940311 69940311 single base substitution G A intron_variant BRCA-EU 16 69940758 69940758 single base substitution G A intron_variant BRCA-EU 16 69940904 69940904 single base substitution T C intron_variant BRCA-EU 16 69940935 69940935 single base substitution C T intron_variant BRCA-EU 16 69944013 69944013 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 69944013 69944013 single base substitution C T downstream_gene_variant BRCA-EU 16 69944013 69944013 single base substitution C T intron_variant BRCA-EU 16 69945506 69945506 single base substitution G A downstream_gene_variant BRCA-EU 16 69945506 69945506 single base substitution G A intron_variant BRCA-EU 16 69946655 69946655 single base substitution C G downstream_gene_variant BRCA-EU 16 69946655 69946655 single base substitution C G intron_variant BRCA-EU 16 69946655 69946655 single base substitution C G upstream_gene_variant BRCA-EU 16 69947369 69947369 single base substitution C T downstream_gene_variant BRCA-EU 16 69947369 69947369 single base substitution C T intron_variant BRCA-EU 16 69947369 69947369 single base substitution C T upstream_gene_variant BRCA-EU 16 69948155 69948155 single base substitution C T downstream_gene_variant BRCA-EU 16 69948155 69948155 single base substitution C T intron_variant BRCA-EU 16 69948155 69948155 single base substitution C T upstream_gene_variant BRCA-EU 16 69951732 69951732 single base substitution G C exon_variant BRCA-EU 16 69951732 69951732 single base substitution G C missense_variant Q259H 777G>C BRCA-EU 16 69951732 69951732 single base substitution G C missense_variant Q375H 1125G>C BRCA-EU 16 69952328 69952328 single base substitution C G intron_variant BRCA-EU 16 69953224 69953224 single base substitution G A intron_variant BRCA-EU 16 69953387 69953387 single base substitution G T intron_variant BRCA-EU 16 69953602 69953602 single base substitution T C intron_variant BRCA-EU 16 69954130 69954130 single base substitution T A intron_variant BRCA-EU 16 69954130 69954130 single base substitution T A upstream_gene_variant BRCA-EU 16 69954845 69954845 single base substitution C G intron_variant BRCA-EU 16 69954845 69954845 single base substitution C G upstream_gene_variant BRCA-EU 16 69955116 69955116 single base substitution C G intron_variant BRCA-EU 16 69955116 69955116 single base substitution C G upstream_gene_variant BRCA-EU 16 69957557 69957557 single base substitution A C intron_variant BRCA-EU 16 69957557 69957557 single base substitution A C upstream_gene_variant BRCA-EU 16 69958270 69958270 single base substitution G A intron_variant BRCA-EU 16 69958270 69958270 single base substitution G A upstream_gene_variant BRCA-EU 16 69960385 69960385 single base substitution A T downstream_gene_variant BRCA-EU 16 69960385 69960385 single base substitution A T intron_variant BRCA-EU 16 69960385 69960385 single base substitution A T upstream_gene_variant BRCA-EU 16 69960606 69960606 single base substitution G A downstream_gene_variant BRCA-EU 16 69960606 69960606 single base substitution G A intron_variant BRCA-EU 16 69960606 69960606 single base substitution G A upstream_gene_variant BRCA-EU 16 69960747 69960747 single base substitution G A downstream_gene_variant BRCA-EU 16 69960747 69960747 single base substitution G A intron_variant BRCA-EU 16 69960747 69960747 single base substitution G A upstream_gene_variant BRCA-EU 16 69961001 69961001 single base substitution G A downstream_gene_variant BRCA-EU 16 69961001 69961001 single base substitution G A intron_variant BRCA-EU 16 69961001 69961001 single base substitution G A upstream_gene_variant BRCA-EU 16 69965037 69965037 single base substitution C T downstream_gene_variant BRCA-EU 16 69965037 69965037 single base substitution C T intron_variant BRCA-EU 16 69965037 69965037 single base substitution C T upstream_gene_variant BRCA-EU 16 69965732 69965732 single base substitution C T downstream_gene_variant BRCA-EU 16 69965732 69965732 single base substitution C T exon_variant BRCA-EU 16 69965732 69965732 single base substitution C T missense_variant R102C 304C>T BRCA-EU 16 69965732 69965732 single base substitution C T missense_variant R425C 1273C>T BRCA-EU 16 69965732 69965732 single base substitution C T missense_variant R541C 1621C>T BRCA-EU 16 69965732 69965732 single base substitution C T upstream_gene_variant BRCA-EU 16 69966576 69966576 single base substitution C G downstream_gene_variant BRCA-EU 16 69966576 69966576 single base substitution C G intron_variant BRCA-EU 16 69966576 69966576 single base substitution C G upstream_gene_variant BRCA-EU 16 69966798 69966798 single base substitution C G downstream_gene_variant BRCA-EU 16 69966798 69966798 single base substitution C G intron_variant BRCA-EU 16 69966798 69966798 single base substitution C G upstream_gene_variant BRCA-EU 16 69968693 69968693 single base substitution G C downstream_gene_variant BRCA-EU 16 69968693 69968693 single base substitution G C intron_variant BRCA-EU 16 69968693 69968693 single base substitution G C upstream_gene_variant BRCA-EU 16 69969669 69969669 single base substitution G C downstream_gene_variant BRCA-EU 16 69969669 69969669 single base substitution G C intron_variant BRCA-EU 16 69969669 69969669 single base substitution G C upstream_gene_variant BRCA-EU 16 69970372 69970372 single base substitution G A downstream_gene_variant BRCA-EU 16 69970372 69970372 single base substitution G A exon_variant BRCA-EU 16 69970372 69970372 single base substitution G A intron_variant BRCA-EU 16 69970372 69970372 single base substitution G A upstream_gene_variant BRCA-EU 16 69970869 69970869 single base substitution C T downstream_gene_variant BRCA-EU 16 69970869 69970869 single base substitution C T exon_variant BRCA-EU 16 69970869 69970869 single base substitution C T intron_variant BRCA-EU 16 69971430 69971430 single base substitution C G downstream_gene_variant BRCA-EU 16 69971430 69971430 single base substitution C G intron_variant BRCA-EU 16 69971988 69971988 single base substitution C T downstream_gene_variant BRCA-EU 16 69971988 69971988 single base substitution C T intron_variant BRCA-EU 16 69972332 69972332 single base substitution C T downstream_gene_variant BRCA-EU 16 69972332 69972332 single base substitution C T intron_variant BRCA-EU 16 69975917 69975917 single base substitution G C downstream_gene_variant BRCA-EU 16 69977925 69977925 single base substitution G T downstream_gene_variant BRCA-EU 16 69978615 69978615 single base substitution T A downstream_gene_variant BRCA-EU 16 69979282 69979282 single base substitution G A downstream_gene_variant BRCA-FR 16 69791892 69791892 single base substitution C G upstream_gene_variant BRCA-FR 16 69793038 69793038 single base substitution C T upstream_gene_variant BRCA-FR 16 69794292 69794292 single base substitution C T upstream_gene_variant BRCA-FR 16 69794354 69794354 single base substitution C G upstream_gene_variant BRCA-FR 16 69800016 69800016 single base substitution G A intron_variant BRCA-FR 16 69809260 69809260 single base substitution C T intron_variant BRCA-FR 16 69809260 69809260 single base substitution C T upstream_gene_variant BRCA-FR 16 69826882 69826882 single base substitution T C downstream_gene_variant BRCA-FR 16 69826882 69826882 single base substitution T C intron_variant BRCA-FR 16 69833131 69833131 single base substitution G C downstream_gene_variant BRCA-FR 16 69833131 69833131 single base substitution G C exon_variant BRCA-FR 16 69833131 69833131 single base substitution G C missense_variant L91F 273G>C BRCA-FR 16 69842313 69842313 single base substitution A C intron_variant BRCA-FR 16 69842812 69842812 single base substitution C T intron_variant BRCA-FR 16 69862739 69862739 single base substitution C T intron_variant BRCA-FR 16 69870900 69870900 single base substitution C T intron_variant BRCA-FR 16 69870900 69870900 single base substitution C T upstream_gene_variant BRCA-FR 16 69876354 69876354 single base substitution G C downstream_gene_variant BRCA-FR 16 69876354 69876354 single base substitution G C intron_variant BRCA-FR 16 69877416 69877416 single base substitution G A downstream_gene_variant BRCA-FR 16 69877416 69877416 single base substitution G A intron_variant BRCA-FR 16 69889005 69889005 single base substitution C T intron_variant BRCA-FR 16 69892825 69892825 single base substitution G C intron_variant BRCA-FR 16 69898477 69898477 single base substitution G C intron_variant BRCA-FR 16 69898487 69898487 single base substitution C G intron_variant BRCA-FR 16 69898835 69898835 single base substitution G C intron_variant BRCA-FR 16 69908371 69908371 single base substitution G A downstream_gene_variant BRCA-FR 16 69908371 69908371 single base substitution G A intron_variant BRCA-FR 16 69910131 69910131 single base substitution G C downstream_gene_variant BRCA-FR 16 69910131 69910131 single base substitution G C intron_variant BRCA-FR 16 69916146 69916146 single base substitution A C intron_variant BRCA-FR 16 69921272 69921272 single base substitution A G intron_variant BRCA-FR 16 69921272 69921272 single base substitution A G upstream_gene_variant BRCA-FR 16 69923439 69923439 single base substitution T C downstream_gene_variant BRCA-FR 16 69923439 69923439 single base substitution T C intron_variant BRCA-FR 16 69923439 69923439 single base substitution T C upstream_gene_variant BRCA-FR 16 69945506 69945506 single base substitution G A downstream_gene_variant BRCA-FR 16 69945506 69945506 single base substitution G A intron_variant BRCA-FR 16 69946655 69946655 single base substitution C G downstream_gene_variant BRCA-FR 16 69946655 69946655 single base substitution C G intron_variant BRCA-FR 16 69946655 69946655 single base substitution C G upstream_gene_variant BRCA-FR 16 69947369 69947369 single base substitution C T downstream_gene_variant BRCA-FR 16 69947369 69947369 single base substitution C T intron_variant BRCA-FR 16 69947369 69947369 single base substitution C T upstream_gene_variant BRCA-FR 16 69948155 69948155 single base substitution C T downstream_gene_variant BRCA-FR 16 69948155 69948155 single base substitution C T intron_variant BRCA-FR 16 69948155 69948155 single base substitution C T upstream_gene_variant BRCA-FR 16 69954845 69954845 single base substitution C G intron_variant BRCA-FR 16 69954845 69954845 single base substitution C G upstream_gene_variant BRCA-FR 16 69956915 69956915 single base substitution A G intron_variant BRCA-FR 16 69956915 69956915 single base substitution A G upstream_gene_variant BRCA-FR 16 69960727 69960727 single base substitution G A downstream_gene_variant BRCA-FR 16 69960727 69960727 single base substitution G A intron_variant BRCA-FR 16 69960727 69960727 single base substitution G A upstream_gene_variant BRCA-FR 16 69970231 69970231 single base substitution G C downstream_gene_variant BRCA-FR 16 69970231 69970231 single base substitution G C exon_variant BRCA-FR 16 69970231 69970231 single base substitution G C missense_variant E226Q 676G>C BRCA-FR 16 69970231 69970231 single base substitution G C missense_variant E549Q 1645G>C BRCA-FR 16 69970231 69970231 single base substitution G C missense_variant E665Q 1993G>C BRCA-FR 16 69970231 69970231 single base substitution G C upstream_gene_variant BRCA-FR 16 69970372 69970372 single base substitution G A downstream_gene_variant BRCA-FR 16 69970372 69970372 single base substitution G A exon_variant BRCA-FR 16 69970372 69970372 single base substitution G A intron_variant BRCA-FR 16 69970372 69970372 single base substitution G A upstream_gene_variant BRCA-UK 16 69801695 69801695 single base substitution T G intron_variant BRCA-UK 16 69807210 69807210 single base substitution T C intron_variant BRCA-UK 16 69807210 69807210 single base substitution T C upstream_gene_variant BRCA-UK 16 69833116 69833116 single base substitution G C downstream_gene_variant BRCA-UK 16 69833116 69833116 single base substitution G C exon_variant BRCA-UK 16 69833116 69833116 single base substitution G C missense_variant W86C 258G>C BRCA-UK 16 69845770 69845770 single base substitution C T intron_variant BRCA-UK 16 69846842 69846842 single base substitution C T intron_variant BRCA-UK 16 69854176 69854176 single base substitution C T intron_variant BRCA-UK 16 69862242 69862242 single base substitution C G intron_variant BRCA-UK 16 69863292 69863292 single base substitution C G intron_variant BRCA-UK 16 69863965 69863965 single base substitution C G intron_variant BRCA-UK 16 69875170 69875170 single base substitution C T downstream_gene_variant BRCA-UK 16 69875170 69875170 single base substitution C T intron_variant BRCA-UK 16 69895105 69895105 single base substitution C G intron_variant BRCA-UK 16 69895162 69895162 single base substitution C G intron_variant BRCA-UK 16 69952068 69952068 single base substitution C T intron_variant BRCA-UK 16 69953065 69953065 single base substitution C G intron_variant BRCA-UK 16 69953143 69953143 single base substitution A C intron_variant BRCA-UK 16 69954288 69954288 single base substitution C G intron_variant BRCA-UK 16 69954288 69954288 single base substitution C G upstream_gene_variant BRCA-US 16 69832690 69832690 single base substitution G A exon_variant BRCA-US 16 69832690 69832690 single base substitution G A missense_variant R59H 176G>A BRCA-US 16 69832690 69832690 single base substitution G A upstream_gene_variant BRCA-US 16 69874100 69874100 single base substitution A T downstream_gene_variant BRCA-US 16 69874100 69874100 single base substitution A T exon_variant BRCA-US 16 69874100 69874100 single base substitution A T missense_variant T138S 412A>T BRCA-US 16 69874100 69874100 single base substitution A T missense_variant T22S 64A>T BRCA-US 16 69922069 69922069 single base substitution A C downstream_gene_variant BRCA-US 16 69922069 69922069 single base substitution A C exon_variant BRCA-US 16 69922069 69922069 single base substitution A C synonymous_variant T161T 483A>C BRCA-US 16 69922069 69922069 single base substitution A C synonymous_variant T277T 831A>C BRCA-US 16 69922069 69922069 single base substitution A C upstream_gene_variant BRCA-US 16 69951724 69951724 single base substitution C T exon_variant BRCA-US 16 69951724 69951724 single base substitution C T stop_gained Q257* 769C>T BRCA-US 16 69951724 69951724 single base substitution C T stop_gained Q373* 1117C>T BRCA-US 16 69959378 69959378 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 16 69959378 69959378 single base substitution C G exon_variant BRCA-US 16 69959378 69959378 single base substitution C G missense_variant P293A 877C>G BRCA-US 16 69959378 69959378 single base substitution C G missense_variant P409A 1225C>G BRCA-US 16 69959378 69959378 single base substitution C G upstream_gene_variant BRCA-US 16 69965781 69965781 single base substitution G T downstream_gene_variant BRCA-US 16 69965781 69965781 single base substitution G T exon_variant BRCA-US 16 69965781 69965781 single base substitution G T missense_variant G118V 353G>T BRCA-US 16 69965781 69965781 single base substitution G T missense_variant G441V 1322G>T BRCA-US 16 69965781 69965781 single base substitution G T missense_variant G557V 1670G>T BRCA-US 16 69965781 69965781 single base substitution G T upstream_gene_variant BRCA-US 16 69967002 69967002 single base substitution C T downstream_gene_variant BRCA-US 16 69967002 69967002 single base substitution C T intron_variant BRCA-US 16 69967002 69967002 single base substitution C T upstream_gene_variant BRCA-US 16 69969793 69969793 single base substitution C T downstream_gene_variant BRCA-US 16 69969793 69969793 single base substitution C T exon_variant BRCA-US 16 69969793 69969793 single base substitution C T missense_variant T188I 563C>T BRCA-US 16 69969793 69969793 single base substitution C T missense_variant T511I 1532C>T BRCA-US 16 69969793 69969793 single base substitution C T missense_variant T627I 1880C>T BRCA-US 16 69969793 69969793 single base substitution C T upstream_gene_variant BRCA-US 16 69970309 69970309 single base substitution G A downstream_gene_variant BRCA-US 16 69970309 69970309 single base substitution G A exon_variant BRCA-US 16 69970309 69970309 single base substitution G A missense_variant G252S 754G>A BRCA-US 16 69970309 69970309 single base substitution G A missense_variant G575S 1723G>A BRCA-US 16 69970309 69970309 single base substitution G A missense_variant G691S 2071G>A BRCA-US 16 69970309 69970309 single base substitution G A upstream_gene_variant BRCA-US 16 69971129 69971129 single base substitution G C downstream_gene_variant BRCA-US 16 69971129 69971129 single base substitution G C exon_variant BRCA-US 16 69971129 69971129 single base substitution G C missense_variant E303D 909G>C BRCA-US 16 69971129 69971129 single base substitution G C missense_variant E626D 1878G>C BRCA-US 16 69971129 69971129 single base substitution G C missense_variant E742D 2226G>C BRCA-US 16 69971470 69971470 single base substitution A T downstream_gene_variant BRCA-US 16 69971470 69971470 single base substitution A T exon_variant BRCA-US 16 69971470 69971470 single base substitution A T missense_variant Q314L 941A>T BRCA-US 16 69971470 69971470 single base substitution A T missense_variant Q637L 1910A>T BRCA-US 16 69971470 69971470 single base substitution A T missense_variant Q753L 2258A>T BRCA-US 16 69972999 69972999 deletion of <=200bp C - downstream_gene_variant BRCA-US 16 69972999 69972999 deletion of <=200bp C - exon_variant BRCA-US 16 69972999 69972999 deletion of <=200bp C - frameshift_variant P366 BRCA-US 16 69972999 69972999 deletion of <=200bp C - frameshift_variant P689 BRCA-US 16 69972999 69972999 deletion of <=200bp C - frameshift_variant P805 BRCA-US 16 69973017 69973017 single base substitution G A downstream_gene_variant BRCA-US 16 69973017 69973017 single base substitution G A exon_variant BRCA-US 16 69973017 69973017 single base substitution G A missense_variant E372K 1114G>A BRCA-US 16 69973017 69973017 single base substitution G A missense_variant E695K 2083G>A BRCA-US 16 69973017 69973017 single base substitution G A missense_variant E811K 2431G>A BRCA-US 16 69973789 69973789 single base substitution G C downstream_gene_variant BRCA-US 16 69973789 69973789 single base substitution G C exon_variant BRCA-US 16 69973789 69973789 single base substitution G C synonymous_variant L414L 1242G>C BRCA-US 16 69973789 69973789 single base substitution G C synonymous_variant L737L 2211G>C BRCA-US 16 69973789 69973789 single base substitution G C synonymous_variant L853L 2559G>C BTCA-JP 16 69942540 69942540 single base substitution C A intron_variant BTCA-JP 16 69951532 69951532 single base substitution T C exon_variant BTCA-JP 16 69951532 69951532 single base substitution T C intron_variant BTCA-JP 16 69951797 69951797 single base substitution A G intron_variant CESC-US 16 69874086 69874086 single base substitution C T downstream_gene_variant CESC-US 16 69874086 69874086 single base substitution C T exon_variant CESC-US 16 69874086 69874086 single base substitution C T missense_variant S133L 398C>T CESC-US 16 69874086 69874086 single base substitution C T missense_variant S17L 50C>T CESC-US 16 69874115 69874115 single base substitution G A downstream_gene_variant CESC-US 16 69874115 69874115 single base substitution G A exon_variant CESC-US 16 69874115 69874115 single base substitution G A missense_variant G143R 427G>A CESC-US 16 69874115 69874115 single base substitution G A missense_variant G27R 79G>A CESC-US 16 69968006 69968006 single base substitution C T downstream_gene_variant CESC-US 16 69968006 69968006 single base substitution C T exon_variant CESC-US 16 69968006 69968006 single base substitution C T missense_variant R167C 499C>T CESC-US 16 69968006 69968006 single base substitution C T missense_variant R490C 1468C>T CESC-US 16 69968006 69968006 single base substitution C T missense_variant R606C 1816C>T CESC-US 16 69968006 69968006 single base substitution C T upstream_gene_variant CESC-US 16 69971535 69971535 single base substitution C T downstream_gene_variant CESC-US 16 69971535 69971535 single base substitution C T exon_variant CESC-US 16 69971535 69971535 single base substitution C T stop_gained Q336* 1006C>T CESC-US 16 69971535 69971535 single base substitution C T stop_gained Q659* 1975C>T CESC-US 16 69971535 69971535 single base substitution C T stop_gained Q775* 2323C>T CESC-US 16 69974027 69974027 single base substitution G A 3_prime_UTR_variant CESC-US 16 69974027 69974027 single base substitution G A downstream_gene_variant CESC-US 16 69974027 69974027 single base substitution G A exon_variant CLLE-ES 16 69792268 69792268 single base substitution C T upstream_gene_variant CLLE-ES 16 69799338 69799338 single base substitution A T intron_variant CLLE-ES 16 69802981 69802981 single base substitution G A intron_variant CLLE-ES 16 69819850 69819850 single base substitution A G intron_variant CLLE-ES 16 69819850 69819850 single base substitution A G upstream_gene_variant CLLE-ES 16 69822342 69822342 single base substitution T C downstream_gene_variant CLLE-ES 16 69822342 69822342 single base substitution T C intron_variant CLLE-ES 16 69836951 69836951 single base substitution G A downstream_gene_variant CLLE-ES 16 69836951 69836951 single base substitution G A intron_variant CLLE-ES 16 69862507 69862507 single base substitution A T intron_variant CLLE-ES 16 69878048 69878048 single base substitution G A downstream_gene_variant CLLE-ES 16 69878048 69878048 single base substitution G A intron_variant CLLE-ES 16 69888885 69888885 single base substitution A G intron_variant CLLE-ES 16 69900753 69900753 single base substitution A T intron_variant CLLE-ES 16 69900753 69900753 single base substitution A T upstream_gene_variant CLLE-ES 16 69905927 69905927 single base substitution T G downstream_gene_variant CLLE-ES 16 69905927 69905927 single base substitution T G intron_variant COAD-US 16 69833092 69833092 single base substitution G T downstream_gene_variant COAD-US 16 69833092 69833092 single base substitution G T exon_variant COAD-US 16 69833092 69833092 single base substitution G T missense_variant Q78H 234G>T COAD-US 16 69922032 69922032 single base substitution C T exon_variant COAD-US 16 69922032 69922032 single base substitution C T missense_variant P149L 446C>T COAD-US 16 69922032 69922032 single base substitution C T missense_variant P265L 794C>T COAD-US 16 69922032 69922032 single base substitution C T upstream_gene_variant COAD-US 16 69964047 69964047 single base substitution C A downstream_gene_variant COAD-US 16 69964047 69964047 single base substitution C A exon_variant COAD-US 16 69964047 69964047 single base substitution C A missense_variant P328Q 983C>A COAD-US 16 69964047 69964047 single base substitution C A missense_variant P444Q 1331C>A COAD-US 16 69964047 69964047 single base substitution C A missense_variant P5Q 14C>A COAD-US 16 69964047 69964047 single base substitution C A upstream_gene_variant COAD-US 16 69964055 69964055 single base substitution C T downstream_gene_variant COAD-US 16 69964055 69964055 single base substitution C T exon_variant COAD-US 16 69964055 69964055 single base substitution C T missense_variant P331S 991C>T COAD-US 16 69964055 69964055 single base substitution C T missense_variant P447S 1339C>T COAD-US 16 69964055 69964055 single base substitution C T missense_variant P8S 22C>T COAD-US 16 69964055 69964055 single base substitution C T upstream_gene_variant COCA-CN 16 69791396 69791396 single base substitution C T upstream_gene_variant COCA-CN 16 69951772 69951772 single base substitution A C exon_variant COCA-CN 16 69951772 69951772 single base substitution A C synonymous_variant R273R 817A>C COCA-CN 16 69951772 69951772 single base substitution A C synonymous_variant R389R 1165A>C COCA-CN 16 69951890 69951890 single base substitution C T intron_variant COCA-CN 16 69959455 69959455 single base substitution G A intron_variant COCA-CN 16 69959455 69959455 single base substitution G A upstream_gene_variant COCA-CN 16 69965391 69965391 single base substitution C A downstream_gene_variant COCA-CN 16 69965391 69965391 single base substitution C A intron_variant COCA-CN 16 69965391 69965391 single base substitution C A upstream_gene_variant COCA-CN 16 69965551 69965551 single base substitution C T downstream_gene_variant COCA-CN 16 69965551 69965551 single base substitution C T exon_variant COCA-CN 16 69965551 69965551 single base substitution C T intron_variant COCA-CN 16 69965551 69965551 single base substitution C T upstream_gene_variant COCA-CN 16 69965686 69965686 single base substitution C T downstream_gene_variant COCA-CN 16 69965686 69965686 single base substitution C T exon_variant COCA-CN 16 69965686 69965686 single base substitution C T intron_variant COCA-CN 16 69965686 69965686 single base substitution C T upstream_gene_variant COCA-CN 16 69965736 69965736 single base substitution G A downstream_gene_variant COCA-CN 16 69965736 69965736 single base substitution G A exon_variant COCA-CN 16 69965736 69965736 single base substitution G A missense_variant R103H 308G>A COCA-CN 16 69965736 69965736 single base substitution G A missense_variant R426H 1277G>A COCA-CN 16 69965736 69965736 single base substitution G A missense_variant R542H 1625G>A COCA-CN 16 69965736 69965736 single base substitution G A upstream_gene_variant COCA-CN 16 69969811 69969811 single base substitution G A downstream_gene_variant COCA-CN 16 69969811 69969811 single base substitution G A exon_variant COCA-CN 16 69969811 69969811 single base substitution G A missense_variant R194Q 581G>A COCA-CN 16 69969811 69969811 single base substitution G A missense_variant R517Q 1550G>A COCA-CN 16 69969811 69969811 single base substitution G A missense_variant R633Q 1898G>A COCA-CN 16 69969811 69969811 single base substitution G A upstream_gene_variant COCA-CN 16 69971653 69971653 single base substitution G A downstream_gene_variant COCA-CN 16 69971653 69971653 single base substitution G A intron_variant EOPC-DE 16 69815763 69815763 single base substitution C T intron_variant EOPC-DE 16 69926252 69926252 single base substitution A C downstream_gene_variant EOPC-DE 16 69926252 69926252 single base substitution A C intron_variant EOPC-DE 16 69926252 69926252 single base substitution A C upstream_gene_variant ESAD-UK 16 69793156 69793156 single base substitution C A upstream_gene_variant ESAD-UK 16 69793157 69793157 insertion of <=200bp - T upstream_gene_variant ESAD-UK 16 69793982 69793982 insertion of <=200bp - AA upstream_gene_variant ESAD-UK 16 69794577 69794577 single base substitution C A upstream_gene_variant ESAD-UK 16 69794752 69794752 single base substitution C T upstream_gene_variant ESAD-UK 16 69797154 69797154 single base substitution C G intron_variant ESAD-UK 16 69797640 69797640 single base substitution G T intron_variant ESAD-UK 16 69801080 69801080 single base substitution C T intron_variant ESAD-UK 16 69801116 69801116 single base substitution G A intron_variant ESAD-UK 16 69802894 69802894 single base substitution T A intron_variant ESAD-UK 16 69804229 69804229 single base substitution G C intron_variant ESAD-UK 16 69809003 69809003 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 16 69809003 69809003 single base substitution C T intron_variant ESAD-UK 16 69809003 69809003 single base substitution C T upstream_gene_variant ESAD-UK 16 69810872 69810872 single base substitution C T intron_variant ESAD-UK 16 69811244 69811244 single base substitution C T intron_variant ESAD-UK 16 69811440 69811440 single base substitution G C intron_variant ESAD-UK 16 69812099 69812099 single base substitution T A intron_variant ESAD-UK 16 69815224 69815224 single base substitution T C intron_variant ESAD-UK 16 69816619 69816619 single base substitution C T intron_variant ESAD-UK 16 69816619 69816619 single base substitution C T upstream_gene_variant ESAD-UK 16 69816721 69816721 single base substitution C T intron_variant ESAD-UK 16 69816721 69816721 single base substitution C T upstream_gene_variant ESAD-UK 16 69820416 69820416 single base substitution C T intron_variant ESAD-UK 16 69820416 69820416 single base substitution C T upstream_gene_variant ESAD-UK 16 69822490 69822490 single base substitution G A downstream_gene_variant ESAD-UK 16 69822490 69822490 single base substitution G A intron_variant ESAD-UK 16 69826758 69826758 single base substitution C A downstream_gene_variant ESAD-UK 16 69826758 69826758 single base substitution C A intron_variant ESAD-UK 16 69829255 69829255 single base substitution C T intron_variant ESAD-UK 16 69829255 69829255 single base substitution C T upstream_gene_variant ESAD-UK 16 69830863 69830863 single base substitution G A intron_variant ESAD-UK 16 69830863 69830863 single base substitution G A upstream_gene_variant ESAD-UK 16 69830932 69830932 single base substitution G A intron_variant ESAD-UK 16 69830932 69830932 single base substitution G A upstream_gene_variant ESAD-UK 16 69835584 69835584 single base substitution G A downstream_gene_variant ESAD-UK 16 69835584 69835584 single base substitution G A intron_variant ESAD-UK 16 69835782 69835782 single base substitution G T downstream_gene_variant ESAD-UK 16 69835782 69835782 single base substitution G T intron_variant ESAD-UK 16 69837561 69837561 single base substitution C T downstream_gene_variant ESAD-UK 16 69837561 69837561 single base substitution C T intron_variant ESAD-UK 16 69839976 69839976 single base substitution C T intron_variant ESAD-UK 16 69840523 69840523 single base substitution C T intron_variant ESAD-UK 16 69840965 69840965 single base substitution C T intron_variant ESAD-UK 16 69841205 69841205 single base substitution C T intron_variant ESAD-UK 16 69845889 69845889 single base substitution C T intron_variant ESAD-UK 16 69846823 69846823 single base substitution T C intron_variant ESAD-UK 16 69850057 69850057 single base substitution T C intron_variant ESAD-UK 16 69852111 69852111 single base substitution T A intron_variant ESAD-UK 16 69852743 69852743 single base substitution C T intron_variant ESAD-UK 16 69853320 69853320 single base substitution C T intron_variant ESAD-UK 16 69855587 69855587 single base substitution G A intron_variant ESAD-UK 16 69862578 69862578 single base substitution A G intron_variant ESAD-UK 16 69862923 69862923 single base substitution G A intron_variant ESAD-UK 16 69866047 69866047 insertion of <=200bp - T intron_variant ESAD-UK 16 69867964 69867964 insertion of <=200bp - A intron_variant ESAD-UK 16 69867964 69867964 insertion of <=200bp - A upstream_gene_variant ESAD-UK 16 69868711 69868711 single base substitution G A intron_variant ESAD-UK 16 69868711 69868711 single base substitution G A upstream_gene_variant ESAD-UK 16 69869791 69869791 single base substitution C T intron_variant ESAD-UK 16 69869791 69869791 single base substitution C T upstream_gene_variant ESAD-UK 16 69871813 69871813 single base substitution C T intron_variant ESAD-UK 16 69871813 69871813 single base substitution C T upstream_gene_variant ESAD-UK 16 69876012 69876012 single base substitution T A downstream_gene_variant ESAD-UK 16 69876012 69876012 single base substitution T A exon_variant ESAD-UK 16 69876012 69876012 single base substitution T A synonymous_variant G188G 564T>A ESAD-UK 16 69876012 69876012 single base substitution T A synonymous_variant G72G 216T>A ESAD-UK 16 69879156 69879156 single base substitution G A intron_variant ESAD-UK 16 69888231 69888231 single base substitution C T intron_variant ESAD-UK 16 69888695 69888695 single base substitution C T intron_variant ESAD-UK 16 69890436 69890436 single base substitution G T intron_variant ESAD-UK 16 69893293 69893293 insertion of <=200bp - A intron_variant ESAD-UK 16 69898062 69898062 single base substitution G A intron_variant ESAD-UK 16 69898310 69898310 single base substitution G T intron_variant ESAD-UK 16 69900549 69900549 single base substitution C A intron_variant ESAD-UK 16 69901754 69901754 single base substitution G A intron_variant ESAD-UK 16 69901754 69901754 single base substitution G A upstream_gene_variant ESAD-UK 16 69903988 69903988 single base substitution G C intron_variant ESAD-UK 16 69903988 69903988 single base substitution G C upstream_gene_variant ESAD-UK 16 69906333 69906333 single base substitution A G downstream_gene_variant ESAD-UK 16 69906333 69906333 single base substitution A G intron_variant ESAD-UK 16 69906776 69906776 single base substitution C T downstream_gene_variant ESAD-UK 16 69906776 69906776 single base substitution C T intron_variant ESAD-UK 16 69907261 69907261 single base substitution C T downstream_gene_variant ESAD-UK 16 69907261 69907261 single base substitution C T intron_variant ESAD-UK 16 69907968 69907968 single base substitution C T downstream_gene_variant ESAD-UK 16 69907968 69907968 single base substitution C T intron_variant ESAD-UK 16 69908324 69908324 single base substitution C T downstream_gene_variant ESAD-UK 16 69908324 69908324 single base substitution C T intron_variant ESAD-UK 16 69908817 69908817 single base substitution C T downstream_gene_variant ESAD-UK 16 69908817 69908817 single base substitution C T intron_variant ESAD-UK 16 69909379 69909379 single base substitution C T downstream_gene_variant ESAD-UK 16 69909379 69909379 single base substitution C T intron_variant ESAD-UK 16 69909556 69909556 single base substitution C G downstream_gene_variant ESAD-UK 16 69909556 69909556 single base substitution C G intron_variant ESAD-UK 16 69909891 69909891 single base substitution C T downstream_gene_variant ESAD-UK 16 69909891 69909891 single base substitution C T intron_variant ESAD-UK 16 69909977 69909977 single base substitution C G downstream_gene_variant ESAD-UK 16 69909977 69909977 single base substitution C G intron_variant ESAD-UK 16 69911421 69911421 single base substitution C T intron_variant ESAD-UK 16 69911707 69911707 insertion of <=200bp - TTTA intron_variant ESAD-UK 16 69913291 69913291 single base substitution G A intron_variant ESAD-UK 16 69914887 69914887 deletion of <=200bp T - intron_variant ESAD-UK 16 69915681 69915681 single base substitution C T intron_variant ESAD-UK 16 69917961 69917961 single base substitution C T intron_variant ESAD-UK 16 69920173 69920173 single base substitution G C intron_variant ESAD-UK 16 69920173 69920173 single base substitution G C upstream_gene_variant ESAD-UK 16 69920592 69920592 single base substitution G A intron_variant ESAD-UK 16 69920592 69920592 single base substitution G A upstream_gene_variant ESAD-UK 16 69923930 69923930 single base substitution T C downstream_gene_variant ESAD-UK 16 69923930 69923930 single base substitution T C intron_variant ESAD-UK 16 69923930 69923930 single base substitution T C upstream_gene_variant ESAD-UK 16 69931740 69931740 single base substitution G A intron_variant ESAD-UK 16 69936680 69936680 single base substitution G T intron_variant ESAD-UK 16 69945602 69945602 single base substitution T G downstream_gene_variant ESAD-UK 16 69945602 69945602 single base substitution T G intron_variant ESAD-UK 16 69946008 69946008 single base substitution C A downstream_gene_variant ESAD-UK 16 69946008 69946008 single base substitution C A intron_variant ESAD-UK 16 69947962 69947962 single base substitution G A downstream_gene_variant ESAD-UK 16 69947962 69947962 single base substitution G A intron_variant ESAD-UK 16 69947962 69947962 single base substitution G A upstream_gene_variant ESAD-UK 16 69957741 69957741 single base substitution A T intron_variant ESAD-UK 16 69957741 69957741 single base substitution A T upstream_gene_variant ESAD-UK 16 69959494 69959495 deletion of <=200bp TC - intron_variant ESAD-UK 16 69959494 69959495 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 16 69959600 69959600 single base substitution C T intron_variant ESAD-UK 16 69959600 69959600 single base substitution C T upstream_gene_variant ESAD-UK 16 69960328 69960328 single base substitution G A downstream_gene_variant ESAD-UK 16 69960328 69960328 single base substitution G A intron_variant ESAD-UK 16 69960328 69960328 single base substitution G A upstream_gene_variant ESAD-UK 16 69961436 69961436 single base substitution C T downstream_gene_variant ESAD-UK 16 69961436 69961436 single base substitution C T intron_variant ESAD-UK 16 69961436 69961436 single base substitution C T upstream_gene_variant ESAD-UK 16 69966356 69966356 single base substitution G A downstream_gene_variant ESAD-UK 16 69966356 69966356 single base substitution G A intron_variant ESAD-UK 16 69966356 69966356 single base substitution G A upstream_gene_variant ESAD-UK 16 69967690 69967690 single base substitution G A downstream_gene_variant ESAD-UK 16 69967690 69967690 single base substitution G A intron_variant ESAD-UK 16 69967690 69967690 single base substitution G A upstream_gene_variant ESAD-UK 16 69968077 69968077 single base substitution T G downstream_gene_variant ESAD-UK 16 69968077 69968077 single base substitution T G intron_variant ESAD-UK 16 69968077 69968077 single base substitution T G upstream_gene_variant ESAD-UK 16 69968812 69968812 single base substitution C T downstream_gene_variant ESAD-UK 16 69968812 69968812 single base substitution C T intron_variant ESAD-UK 16 69968812 69968812 single base substitution C T upstream_gene_variant ESAD-UK 16 69971158 69971158 single base substitution G T downstream_gene_variant ESAD-UK 16 69971158 69971158 single base substitution G T intron_variant ESAD-UK 16 69973262 69973262 single base substitution A C downstream_gene_variant ESAD-UK 16 69973262 69973262 single base substitution A C exon_variant ESAD-UK 16 69973262 69973262 single base substitution A C missense_variant K381T 1142A>C ESAD-UK 16 69973262 69973262 single base substitution A C missense_variant K704T 2111A>C ESAD-UK 16 69973262 69973262 single base substitution A C missense_variant K820T 2459A>C GBM-US 16 69973830 69973830 single base substitution T C downstream_gene_variant GBM-US 16 69973830 69973830 single base substitution T C exon_variant GBM-US 16 69973830 69973830 single base substitution T C missense_variant F428S 1283T>C GBM-US 16 69973830 69973830 single base substitution T C missense_variant F751S 2252T>C GBM-US 16 69973830 69973830 single base substitution T C missense_variant F867S 2600T>C KIRC-US 16 69964089 69964089 single base substitution G C downstream_gene_variant KIRC-US 16 69964089 69964089 single base substitution G C exon_variant KIRC-US 16 69964089 69964089 single base substitution G C missense_variant G19A 56G>C KIRC-US 16 69964089 69964089 single base substitution G C missense_variant G342A 1025G>C KIRC-US 16 69964089 69964089 single base substitution G C missense_variant G458A 1373G>C KIRC-US 16 69964089 69964089 single base substitution G C upstream_gene_variant KIRC-US 16 69967969 69967969 single base substitution C A downstream_gene_variant KIRC-US 16 69967969 69967969 single base substitution C A exon_variant KIRC-US 16 69967969 69967969 single base substitution C A synonymous_variant P154P 462C>A KIRC-US 16 69967969 69967969 single base substitution C A synonymous_variant P477P 1431C>A KIRC-US 16 69967969 69967969 single base substitution C A synonymous_variant P593P 1779C>A KIRC-US 16 69967969 69967969 single base substitution C A upstream_gene_variant LAML-KR 16 69812670 69812670 single base substitution G A intron_variant LAML-KR 16 69915875 69915875 single base substitution G T intron_variant LAML-KR 16 69964889 69964889 single base substitution A G downstream_gene_variant LAML-KR 16 69964889 69964889 single base substitution A G intron_variant LAML-KR 16 69964889 69964889 single base substitution A G upstream_gene_variant LAML-KR 16 69965280 69965280 single base substitution C T downstream_gene_variant LAML-KR 16 69965280 69965280 single base substitution C T intron_variant LAML-KR 16 69965280 69965280 single base substitution C T upstream_gene_variant LAML-KR 16 69969934 69969934 single base substitution G A downstream_gene_variant LAML-KR 16 69969934 69969934 single base substitution G A intron_variant LAML-KR 16 69969934 69969934 single base substitution G A upstream_gene_variant LAML-KR 16 69978114 69978114 single base substitution G T downstream_gene_variant LICA-CN 16 69921944 69921944 single base substitution A C missense_variant N120H 358A>C LICA-CN 16 69921944 69921944 single base substitution A C missense_variant N236H 706A>C LICA-CN 16 69921944 69921944 single base substitution A C splice_region_variant LICA-CN 16 69921944 69921944 single base substitution A C upstream_gene_variant LICA-CN 16 69963435 69963435 single base substitution A T downstream_gene_variant LICA-CN 16 69963435 69963435 single base substitution A T splice_region_variant LICA-CN 16 69963435 69963435 single base substitution A T upstream_gene_variant LICA-FR 16 69816913 69816913 insertion of <=200bp - T intron_variant LICA-FR 16 69816913 69816913 insertion of <=200bp - T upstream_gene_variant LICA-FR 16 69832697 69832697 single base substitution G A exon_variant LICA-FR 16 69832697 69832697 single base substitution G A synonymous_variant G61G 183G>A LICA-FR 16 69832697 69832697 single base substitution G A upstream_gene_variant LICA-FR 16 69832733 69832733 single base substitution G A downstream_gene_variant LICA-FR 16 69832733 69832733 single base substitution G A splice_donor_variant LICA-FR 16 69832733 69832733 single base substitution G A upstream_gene_variant LICA-FR 16 69848635 69848635 single base substitution C G intron_variant LICA-FR 16 69851131 69851131 single base substitution T C intron_variant LICA-FR 16 69851181 69851181 single base substitution T G intron_variant LICA-FR 16 69878978 69878978 single base substitution C T downstream_gene_variant LICA-FR 16 69878978 69878978 single base substitution C T intron_variant LICA-FR 16 69902565 69902565 insertion of <=200bp - CA intron_variant LICA-FR 16 69902565 69902565 insertion of <=200bp - CA upstream_gene_variant LICA-FR 16 69908925 69908925 insertion of <=200bp - AA downstream_gene_variant LICA-FR 16 69908925 69908925 insertion of <=200bp - AA intron_variant LICA-FR 16 69918556 69918556 single base substitution A T intron_variant LICA-FR 16 69943963 69943963 single base substitution C A 3_prime_UTR_variant LICA-FR 16 69943963 69943963 single base substitution C A downstream_gene_variant LICA-FR 16 69943963 69943963 single base substitution C A intron_variant LICA-FR 16 69951749 69951749 single base substitution G A exon_variant LICA-FR 16 69951749 69951749 single base substitution G A missense_variant G265E 794G>A LICA-FR 16 69951749 69951749 single base substitution G A missense_variant G381E 1142G>A LICA-FR 16 69965460 69965460 single base substitution C T downstream_gene_variant LICA-FR 16 69965460 69965460 single base substitution C T exon_variant LICA-FR 16 69965460 69965460 single base substitution C T missense_variant L408F 1222C>T LICA-FR 16 69965460 69965460 single base substitution C T missense_variant L524F 1570C>T LICA-FR 16 69965460 69965460 single base substitution C T missense_variant L85F 253C>T LICA-FR 16 69965460 69965460 single base substitution C T upstream_gene_variant LICA-FR 16 69971024 69971024 single base substitution G A downstream_gene_variant LICA-FR 16 69971024 69971024 single base substitution G A exon_variant LICA-FR 16 69971024 69971024 single base substitution G A synonymous_variant L268L 804G>A LICA-FR 16 69971024 69971024 single base substitution G A synonymous_variant L591L 1773G>A LICA-FR 16 69971024 69971024 single base substitution G A synonymous_variant L707L 2121G>A LICA-FR 16 69973613 69973613 single base substitution G A downstream_gene_variant LICA-FR 16 69973613 69973613 single base substitution G A intron_variant LIHC-US 16 69959360 69959360 single base substitution C T 5_prime_UTR_variant LIHC-US 16 69959360 69959360 single base substitution C T exon_variant LIHC-US 16 69959360 69959360 single base substitution C T missense_variant P287S 859C>T LIHC-US 16 69959360 69959360 single base substitution C T missense_variant P403S 1207C>T LIHC-US 16 69959360 69959360 single base substitution C T upstream_gene_variant LIHC-US 16 69965734 69965734 single base substitution C T downstream_gene_variant LIHC-US 16 69965734 69965734 single base substitution C T exon_variant LIHC-US 16 69965734 69965734 single base substitution C T synonymous_variant R102R 306C>T LIHC-US 16 69965734 69965734 single base substitution C T synonymous_variant R425R 1275C>T LIHC-US 16 69965734 69965734 single base substitution C T synonymous_variant R541R 1623C>T LIHC-US 16 69965734 69965734 single base substitution C T upstream_gene_variant LIHC-US 16 69973254 69973254 single base substitution A G downstream_gene_variant LIHC-US 16 69973254 69973254 single base substitution A G exon_variant LIHC-US 16 69973254 69973254 single base substitution A G synonymous_variant G378G 1134A>G LIHC-US 16 69973254 69973254 single base substitution A G synonymous_variant G701G 2103A>G LIHC-US 16 69973254 69973254 single base substitution A G synonymous_variant G817G 2451A>G LIHC-US 16 69973316 69973316 single base substitution G C downstream_gene_variant LIHC-US 16 69973316 69973316 single base substitution G C missense_variant C399S 1196G>C LIHC-US 16 69973316 69973316 single base substitution G C missense_variant C722S 2165G>C LIHC-US 16 69973316 69973316 single base substitution G C missense_variant C838S 2513G>C LIHC-US 16 69973316 69973316 single base substitution G C splice_region_variant LINC-JP 16 69794320 69794320 single base substitution C A upstream_gene_variant LINC-JP 16 69794418 69794418 single base substitution G T upstream_gene_variant LINC-JP 16 69800939 69800939 single base substitution G T intron_variant LINC-JP 16 69808938 69808938 single base substitution G A intron_variant LINC-JP 16 69808938 69808938 single base substitution G A upstream_gene_variant LINC-JP 16 69816617 69816617 single base substitution A G intron_variant LINC-JP 16 69816617 69816617 single base substitution A G upstream_gene_variant LINC-JP 16 69819876 69819876 deletion of <=200bp T - intron_variant LINC-JP 16 69819876 69819876 deletion of <=200bp T - upstream_gene_variant LINC-JP 16 69832917 69832917 single base substitution A T downstream_gene_variant LINC-JP 16 69832917 69832917 single base substitution A T intron_variant LINC-JP 16 69832917 69832917 single base substitution A T upstream_gene_variant LINC-JP 16 69843204 69843204 single base substitution A G intron_variant LINC-JP 16 69849273 69849273 single base substitution C A intron_variant LINC-JP 16 69859340 69859340 single base substitution C A intron_variant LINC-JP 16 69885182 69885182 single base substitution A G intron_variant LINC-JP 16 69888456 69888456 single base substitution A T intron_variant LINC-JP 16 69900492 69900492 single base substitution A G intron_variant LINC-JP 16 69901261 69901261 single base substitution T C intron_variant LINC-JP 16 69901261 69901261 single base substitution T C upstream_gene_variant LINC-JP 16 69930646 69930646 single base substitution T A intron_variant LINC-JP 16 69932821 69932821 single base substitution G A intron_variant LINC-JP 16 69933629 69933629 single base substitution C A intron_variant LINC-JP 16 69942564 69942564 single base substitution C G intron_variant LINC-JP 16 69942850 69942850 single base substitution G A 3_prime_UTR_variant LINC-JP 16 69942850 69942850 single base substitution G A downstream_gene_variant LINC-JP 16 69942850 69942850 single base substitution G A intron_variant LINC-JP 16 69958784 69958784 deletion of <=200bp G - intron_variant LINC-JP 16 69958784 69958784 deletion of <=200bp G - upstream_gene_variant LINC-JP 16 69965396 69965396 single base substitution C T downstream_gene_variant LINC-JP 16 69965396 69965396 single base substitution C T intron_variant LINC-JP 16 69965396 69965396 single base substitution C T upstream_gene_variant LINC-JP 16 69969779 69969779 single base substitution C A downstream_gene_variant LINC-JP 16 69969779 69969779 single base substitution C A exon_variant LINC-JP 16 69969779 69969779 single base substitution C A synonymous_variant I183I 549C>A LINC-JP 16 69969779 69969779 single base substitution C A synonymous_variant I506I 1518C>A LINC-JP 16 69969779 69969779 single base substitution C A synonymous_variant I622I 1866C>A LINC-JP 16 69969779 69969779 single base substitution C A upstream_gene_variant LINC-JP 16 69972250 69972250 single base substitution C A downstream_gene_variant LINC-JP 16 69972250 69972250 single base substitution C A intron_variant LINC-JP 16 69973862 69973862 single base substitution C T 3_prime_UTR_variant LINC-JP 16 69973862 69973862 single base substitution C T downstream_gene_variant LINC-JP 16 69973862 69973862 single base substitution C T exon_variant LINC-JP 16 69974029 69974029 single base substitution G A 3_prime_UTR_variant LINC-JP 16 69974029 69974029 single base substitution G A downstream_gene_variant LINC-JP 16 69974029 69974029 single base substitution G A exon_variant LINC-JP 16 69977872 69977872 single base substitution A T downstream_gene_variant LIRI-JP 16 69792333 69792333 single base substitution T C upstream_gene_variant LIRI-JP 16 69792361 69792361 single base substitution C T upstream_gene_variant LIRI-JP 16 69793587 69793587 single base substitution A T upstream_gene_variant LIRI-JP 16 69794309 69794309 single base substitution G A upstream_gene_variant LIRI-JP 16 69802721 69802721 deletion of <=200bp C - intron_variant LIRI-JP 16 69803769 69803769 single base substitution A G intron_variant LIRI-JP 16 69805190 69805190 single base substitution C A intron_variant LIRI-JP 16 69805190 69805190 single base substitution C A upstream_gene_variant LIRI-JP 16 69812130 69812130 single base substitution C G intron_variant LIRI-JP 16 69816238 69816238 single base substitution G A intron_variant LIRI-JP 16 69816238 69816238 single base substitution G A upstream_gene_variant LIRI-JP 16 69820693 69820693 single base substitution A G intron_variant LIRI-JP 16 69820693 69820693 single base substitution A G upstream_gene_variant LIRI-JP 16 69820715 69820715 single base substitution A G intron_variant LIRI-JP 16 69820715 69820715 single base substitution A G upstream_gene_variant LIRI-JP 16 69822592 69822592 single base substitution C A downstream_gene_variant LIRI-JP 16 69822592 69822592 single base substitution C A intron_variant LIRI-JP 16 69823475 69823475 single base substitution C G downstream_gene_variant LIRI-JP 16 69823475 69823475 single base substitution C G intron_variant LIRI-JP 16 69824588 69824588 single base substitution C T downstream_gene_variant LIRI-JP 16 69824588 69824588 single base substitution C T intron_variant LIRI-JP 16 69825994 69825994 single base substitution C T downstream_gene_variant LIRI-JP 16 69825994 69825994 single base substitution C T intron_variant LIRI-JP 16 69826300 69826300 single base substitution T G downstream_gene_variant LIRI-JP 16 69826300 69826300 single base substitution T G intron_variant LIRI-JP 16 69828707 69828707 single base substitution A G intron_variant LIRI-JP 16 69828707 69828707 single base substitution A G upstream_gene_variant LIRI-JP 16 69832467 69832467 single base substitution C A intron_variant LIRI-JP 16 69832467 69832467 single base substitution C A upstream_gene_variant LIRI-JP 16 69834287 69834287 single base substitution A G downstream_gene_variant LIRI-JP 16 69834287 69834287 single base substitution A G intron_variant LIRI-JP 16 69834368 69834368 single base substitution C G downstream_gene_variant LIRI-JP 16 69834368 69834368 single base substitution C G intron_variant LIRI-JP 16 69835868 69835868 single base substitution T C downstream_gene_variant LIRI-JP 16 69835868 69835868 single base substitution T C intron_variant LIRI-JP 16 69837924 69837924 single base substitution A G downstream_gene_variant LIRI-JP 16 69837924 69837924 single base substitution A G intron_variant LIRI-JP 16 69838744 69838744 single base substitution A G intron_variant LIRI-JP 16 69839365 69839365 single base substitution C T intron_variant LIRI-JP 16 69845435 69845435 single base substitution G A intron_variant LIRI-JP 16 69848088 69848088 single base substitution A T intron_variant LIRI-JP 16 69850403 69850403 single base substitution A G intron_variant LIRI-JP 16 69850795 69850795 single base substitution A G intron_variant LIRI-JP 16 69851093 69851093 single base substitution C A intron_variant LIRI-JP 16 69852780 69852780 single base substitution A G intron_variant LIRI-JP 16 69856398 69856398 single base substitution G C intron_variant LIRI-JP 16 69858363 69858363 single base substitution G T intron_variant LIRI-JP 16 69859795 69859795 single base substitution G A intron_variant LIRI-JP 16 69860948 69860948 single base substitution A T intron_variant LIRI-JP 16 69865190 69865190 single base substitution A G intron_variant LIRI-JP 16 69865212 69865212 single base substitution G A intron_variant LIRI-JP 16 69867328 69867328 single base substitution G T intron_variant LIRI-JP 16 69868152 69868152 single base substitution T G intron_variant LIRI-JP 16 69868152 69868152 single base substitution T G upstream_gene_variant LIRI-JP 16 69874554 69874554 single base substitution G A downstream_gene_variant LIRI-JP 16 69874554 69874554 single base substitution G A intron_variant LIRI-JP 16 69877059 69877059 single base substitution A C downstream_gene_variant LIRI-JP 16 69877059 69877059 single base substitution A C intron_variant LIRI-JP 16 69877700 69877700 single base substitution A T downstream_gene_variant LIRI-JP 16 69877700 69877700 single base substitution A T intron_variant LIRI-JP 16 69877968 69877968 single base substitution C T downstream_gene_variant LIRI-JP 16 69877968 69877968 single base substitution C T intron_variant LIRI-JP 16 69882211 69882211 single base substitution G T intron_variant LIRI-JP 16 69883367 69883367 single base substitution G T intron_variant LIRI-JP 16 69883484 69883484 single base substitution T C intron_variant LIRI-JP 16 69884644 69884644 single base substitution G T intron_variant LIRI-JP 16 69886446 69886446 single base substitution G A intron_variant LIRI-JP 16 69887599 69887599 single base substitution A T intron_variant LIRI-JP 16 69889082 69889082 single base substitution A G intron_variant LIRI-JP 16 69889179 69889179 single base substitution A G intron_variant LIRI-JP 16 69890243 69890243 single base substitution G C intron_variant LIRI-JP 16 69890293 69890293 single base substitution A G intron_variant LIRI-JP 16 69896393 69896393 single base substitution A G intron_variant LIRI-JP 16 69896510 69896510 single base substitution G A intron_variant LIRI-JP 16 69897722 69897722 single base substitution A G intron_variant LIRI-JP 16 69898810 69898810 single base substitution C A intron_variant LIRI-JP 16 69900289 69900289 single base substitution G C intron_variant LIRI-JP 16 69903144 69903144 single base substitution A G intron_variant LIRI-JP 16 69903144 69903144 single base substitution A G upstream_gene_variant LIRI-JP 16 69906142 69906142 single base substitution C T downstream_gene_variant LIRI-JP 16 69906142 69906142 single base substitution C T intron_variant LIRI-JP 16 69907347 69907349 deletion of <=200bp CCA - downstream_gene_variant LIRI-JP 16 69907347 69907349 deletion of <=200bp CCA - intron_variant LIRI-JP 16 69909084 69909084 single base substitution G A downstream_gene_variant LIRI-JP 16 69909084 69909084 single base substitution G A intron_variant LIRI-JP 16 69909882 69909882 single base substitution A G downstream_gene_variant LIRI-JP 16 69909882 69909882 single base substitution A G intron_variant LIRI-JP 16 69910412 69910412 single base substitution C A downstream_gene_variant LIRI-JP 16 69910412 69910412 single base substitution C A intron_variant LIRI-JP 16 69913441 69913441 single base substitution C T intron_variant LIRI-JP 16 69914192 69914192 single base substitution G C intron_variant LIRI-JP 16 69916470 69916470 single base substitution C A intron_variant LIRI-JP 16 69918905 69918905 single base substitution A G intron_variant LIRI-JP 16 69920661 69920661 single base substitution T G intron_variant LIRI-JP 16 69920661 69920661 single base substitution T G upstream_gene_variant LIRI-JP 16 69920808 69920808 single base substitution A C intron_variant LIRI-JP 16 69920808 69920808 single base substitution A C upstream_gene_variant LIRI-JP 16 69921557 69921557 single base substitution C A intron_variant LIRI-JP 16 69921557 69921557 single base substitution C A upstream_gene_variant LIRI-JP 16 69924936 69924942 deletion of <=200bp CTCTTCT - downstream_gene_variant LIRI-JP 16 69924936 69924942 deletion of <=200bp CTCTTCT - intron_variant LIRI-JP 16 69924936 69924942 deletion of <=200bp CTCTTCT - upstream_gene_variant LIRI-JP 16 69925386 69925386 single base substitution A C downstream_gene_variant LIRI-JP 16 69925386 69925386 single base substitution A C intron_variant LIRI-JP 16 69925386 69925386 single base substitution A C upstream_gene_variant LIRI-JP 16 69925947 69925947 single base substitution C T downstream_gene_variant LIRI-JP 16 69925947 69925947 single base substitution C T intron_variant LIRI-JP 16 69925947 69925947 single base substitution C T upstream_gene_variant LIRI-JP 16 69926320 69926338 deletion of <=200bp TGATTCTCTTAAACAACTC - downstream_gene_variant LIRI-JP 16 69926320 69926338 deletion of <=200bp TGATTCTCTTAAACAACTC - intron_variant LIRI-JP 16 69926320 69926338 deletion of <=200bp TGATTCTCTTAAACAACTC - upstream_gene_variant LIRI-JP 16 69927871 69927871 single base substitution A T intron_variant LIRI-JP 16 69927871 69927871 single base substitution A T upstream_gene_variant LIRI-JP 16 69927940 69927940 single base substitution T G intron_variant LIRI-JP 16 69927940 69927940 single base substitution T G upstream_gene_variant LIRI-JP 16 69929669 69929669 single base substitution A T intron_variant LIRI-JP 16 69929852 69929852 single base substitution G C intron_variant LIRI-JP 16 69933774 69933774 single base substitution A G intron_variant LIRI-JP 16 69941776 69941776 single base substitution A G intron_variant LIRI-JP 16 69942219 69942219 single base substitution T A intron_variant LIRI-JP 16 69942383 69942384 deletion of <=200bp AT - intron_variant LIRI-JP 16 69948403 69948403 single base substitution C A downstream_gene_variant LIRI-JP 16 69948403 69948403 single base substitution C A intron_variant LIRI-JP 16 69948403 69948403 single base substitution C A upstream_gene_variant LIRI-JP 16 69948405 69948405 single base substitution A T downstream_gene_variant LIRI-JP 16 69948405 69948405 single base substitution A T intron_variant LIRI-JP 16 69948405 69948405 single base substitution A T upstream_gene_variant LIRI-JP 16 69949352 69949352 single base substitution A G intron_variant LIRI-JP 16 69949352 69949352 single base substitution A G upstream_gene_variant LIRI-JP 16 69954803 69954803 single base substitution C G intron_variant LIRI-JP 16 69954803 69954803 single base substitution C G upstream_gene_variant LIRI-JP 16 69956687 69956687 single base substitution G A intron_variant LIRI-JP 16 69956687 69956687 single base substitution G A upstream_gene_variant LIRI-JP 16 69957566 69957566 single base substitution C G intron_variant LIRI-JP 16 69957566 69957566 single base substitution C G upstream_gene_variant LIRI-JP 16 69957918 69957918 deletion of <=200bp A - intron_variant LIRI-JP 16 69957918 69957918 deletion of <=200bp A - upstream_gene_variant LIRI-JP 16 69958881 69958881 single base substitution G A intron_variant LIRI-JP 16 69958881 69958881 single base substitution G A upstream_gene_variant LIRI-JP 16 69960076 69960076 single base substitution A T downstream_gene_variant LIRI-JP 16 69960076 69960076 single base substitution A T intron_variant LIRI-JP 16 69960076 69960076 single base substitution A T upstream_gene_variant LIRI-JP 16 69960955 69960955 single base substitution T G downstream_gene_variant LIRI-JP 16 69960955 69960955 single base substitution T G intron_variant LIRI-JP 16 69960955 69960955 single base substitution T G upstream_gene_variant LIRI-JP 16 69964564 69964564 single base substitution T A downstream_gene_variant LIRI-JP 16 69964564 69964564 single base substitution T A intron_variant LIRI-JP 16 69964564 69964564 single base substitution T A upstream_gene_variant LIRI-JP 16 69965827 69965827 single base substitution C T downstream_gene_variant LIRI-JP 16 69965827 69965827 single base substitution C T intron_variant LIRI-JP 16 69965827 69965827 single base substitution C T upstream_gene_variant LIRI-JP 16 69970795 69970795 single base substitution G A downstream_gene_variant LIRI-JP 16 69970795 69970795 single base substitution G A intron_variant LIRI-JP 16 69970795 69970795 single base substitution G A upstream_gene_variant LIRI-JP 16 69972334 69972334 single base substitution A G downstream_gene_variant LIRI-JP 16 69972334 69972334 single base substitution A G intron_variant LIRI-JP 16 69974482 69974482 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 69974482 69974482 single base substitution C T downstream_gene_variant LIRI-JP 16 69974482 69974482 single base substitution C T exon_variant LIRI-JP 16 69975590 69975590 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 69975590 69975590 single base substitution C T downstream_gene_variant LIRI-JP 16 69976960 69976960 single base substitution A G downstream_gene_variant LIRI-JP 16 69978813 69978813 single base substitution G T downstream_gene_variant LUSC-KR 16 69791266 69791266 single base substitution T G upstream_gene_variant LUSC-KR 16 69806439 69806439 single base substitution G T intron_variant LUSC-KR 16 69806439 69806439 single base substitution G T upstream_gene_variant LUSC-KR 16 69807712 69807712 single base substitution C G intron_variant LUSC-KR 16 69807712 69807712 single base substitution C G upstream_gene_variant LUSC-KR 16 69813106 69813106 single base substitution G A intron_variant LUSC-KR 16 69815094 69815094 single base substitution T G intron_variant LUSC-KR 16 69815786 69815786 single base substitution A G intron_variant LUSC-KR 16 69816932 69816932 single base substitution G T intron_variant LUSC-KR 16 69816932 69816932 single base substitution G T splice_region_variant LUSC-KR 16 69816932 69816932 single base substitution G T upstream_gene_variant LUSC-KR 16 69823782 69823782 single base substitution C G downstream_gene_variant LUSC-KR 16 69823782 69823782 single base substitution C G intron_variant LUSC-KR 16 69827151 69827151 single base substitution G A intron_variant LUSC-KR 16 69828027 69828027 single base substitution G T intron_variant LUSC-KR 16 69828027 69828027 single base substitution G T upstream_gene_variant LUSC-KR 16 69857439 69857439 single base substitution C T intron_variant LUSC-KR 16 69858042 69858042 single base substitution G A intron_variant LUSC-KR 16 69868814 69868814 single base substitution C T intron_variant LUSC-KR 16 69868814 69868814 single base substitution C T upstream_gene_variant LUSC-KR 16 69870298 69870298 single base substitution C G intron_variant LUSC-KR 16 69870298 69870298 single base substitution C G upstream_gene_variant LUSC-KR 16 69880701 69880701 single base substitution G T intron_variant LUSC-KR 16 69881019 69881019 single base substitution G A intron_variant LUSC-KR 16 69883419 69883419 single base substitution G T intron_variant LUSC-KR 16 69884062 69884062 single base substitution G C intron_variant LUSC-KR 16 69885874 69885874 single base substitution C T intron_variant LUSC-KR 16 69893301 69893301 single base substitution T A intron_variant LUSC-KR 16 69898627 69898627 single base substitution A T intron_variant LUSC-KR 16 69900811 69900811 single base substitution G T intron_variant LUSC-KR 16 69900811 69900811 single base substitution G T upstream_gene_variant LUSC-KR 16 69900812 69900812 single base substitution C T intron_variant LUSC-KR 16 69900812 69900812 single base substitution C T upstream_gene_variant LUSC-KR 16 69905668 69905668 single base substitution G C exon_variant LUSC-KR 16 69905668 69905668 single base substitution G C intron_variant LUSC-KR 16 69909947 69909947 single base substitution G A downstream_gene_variant LUSC-KR 16 69909947 69909947 single base substitution G A intron_variant LUSC-KR 16 69939280 69939280 single base substitution T C intron_variant LUSC-KR 16 69939526 69939526 single base substitution G A intron_variant LUSC-KR 16 69943093 69943093 single base substitution A G 3_prime_UTR_variant LUSC-KR 16 69943093 69943093 single base substitution A G downstream_gene_variant LUSC-KR 16 69943093 69943093 single base substitution A G intron_variant LUSC-KR 16 69945331 69945331 single base substitution A G downstream_gene_variant LUSC-KR 16 69945331 69945331 single base substitution A G intron_variant LUSC-KR 16 69959223 69959223 single base substitution G A 5_prime_UTR_variant LUSC-KR 16 69959223 69959223 single base substitution G A exon_variant LUSC-KR 16 69959223 69959223 single base substitution G A intron_variant LUSC-KR 16 69959223 69959223 single base substitution G A upstream_gene_variant LUSC-KR 16 69966295 69966295 single base substitution G A downstream_gene_variant LUSC-KR 16 69966295 69966295 single base substitution G A intron_variant LUSC-KR 16 69966295 69966295 single base substitution G A upstream_gene_variant LUSC-KR 16 69966518 69966518 single base substitution C T downstream_gene_variant LUSC-KR 16 69966518 69966518 single base substitution C T intron_variant LUSC-KR 16 69966518 69966518 single base substitution C T upstream_gene_variant LUSC-KR 16 69970696 69970696 single base substitution C T downstream_gene_variant LUSC-KR 16 69970696 69970696 single base substitution C T exon_variant LUSC-KR 16 69970696 69970696 single base substitution C T intron_variant LUSC-KR 16 69970696 69970696 single base substitution C T upstream_gene_variant LUSC-KR 16 69973023 69973023 single base substitution A G downstream_gene_variant LUSC-KR 16 69973023 69973023 single base substitution A G exon_variant LUSC-KR 16 69973023 69973023 single base substitution A G missense_variant I374V 1120A>G LUSC-KR 16 69973023 69973023 single base substitution A G missense_variant I697V 2089A>G LUSC-KR 16 69973023 69973023 single base substitution A G missense_variant I813V 2437A>G LUSC-KR 16 69973113 69973113 single base substitution C T downstream_gene_variant LUSC-KR 16 69973113 69973113 single base substitution C T intron_variant LUSC-KR 16 69978150 69978150 single base substitution A G downstream_gene_variant LUSC-KR 16 69978154 69978154 single base substitution G A downstream_gene_variant LUSC-KR 16 69979960 69979960 single base substitution C A downstream_gene_variant LUSC-KR 16 69980221 69980221 single base substitution T G downstream_gene_variant LUSC-KR 16 69980596 69980596 single base substitution T C downstream_gene_variant LUSC-US 16 69874130 69874130 single base substitution C T downstream_gene_variant LUSC-US 16 69874130 69874130 single base substitution C T exon_variant LUSC-US 16 69874130 69874130 single base substitution C T synonymous_variant L148L 442C>T LUSC-US 16 69874130 69874130 single base substitution C T synonymous_variant L32L 94C>T LUSC-US 16 69965469 69965469 single base substitution G T downstream_gene_variant LUSC-US 16 69965469 69965469 single base substitution G T exon_variant LUSC-US 16 69965469 69965469 single base substitution G T missense_variant D411Y 1231G>T LUSC-US 16 69965469 69965469 single base substitution G T missense_variant D527Y 1579G>T LUSC-US 16 69965469 69965469 single base substitution G T missense_variant D88Y 262G>T LUSC-US 16 69965469 69965469 single base substitution G T upstream_gene_variant LUSC-US 16 69973306 69973306 single base substitution A G downstream_gene_variant LUSC-US 16 69973306 69973306 single base substitution A G exon_variant LUSC-US 16 69973306 69973306 single base substitution A G missense_variant S396G 1186A>G LUSC-US 16 69973306 69973306 single base substitution A G missense_variant S719G 2155A>G LUSC-US 16 69973306 69973306 single base substitution A G missense_variant S835G 2503A>G MALY-DE 16 69792144 69792144 insertion of <=200bp - T upstream_gene_variant MALY-DE 16 69795981 69795981 single base substitution T A upstream_gene_variant MALY-DE 16 69802558 69802558 single base substitution C T intron_variant MALY-DE 16 69803371 69803371 single base substitution A T intron_variant MALY-DE 16 69803373 69803373 single base substitution A C intron_variant MALY-DE 16 69815823 69815823 single base substitution G T intron_variant MALY-DE 16 69819529 69819529 single base substitution T A intron_variant MALY-DE 16 69819529 69819529 single base substitution T A upstream_gene_variant MALY-DE 16 69832726 69832726 single base substitution T A downstream_gene_variant MALY-DE 16 69832726 69832726 single base substitution T A exon_variant MALY-DE 16 69832726 69832726 single base substitution T A missense_variant I71N 212T>A MALY-DE 16 69832726 69832726 single base substitution T A upstream_gene_variant MALY-DE 16 69834964 69834964 single base substitution C T downstream_gene_variant MALY-DE 16 69834964 69834964 single base substitution C T intron_variant MALY-DE 16 69835665 69835668 deletion of <=200bp TAAA - downstream_gene_variant MALY-DE 16 69835665 69835668 deletion of <=200bp TAAA - intron_variant MALY-DE 16 69836778 69836778 single base substitution G A downstream_gene_variant MALY-DE 16 69836778 69836778 single base substitution G A intron_variant MALY-DE 16 69841093 69841093 single base substitution C T intron_variant MALY-DE 16 69847413 69847413 single base substitution G A intron_variant MALY-DE 16 69860860 69860860 single base substitution G A intron_variant MALY-DE 16 69869666 69869666 single base substitution G C intron_variant MALY-DE 16 69869666 69869666 single base substitution G C upstream_gene_variant MALY-DE 16 69880238 69880238 single base substitution A C intron_variant MALY-DE 16 69883076 69883076 single base substitution T G intron_variant MALY-DE 16 69893468 69893468 single base substitution G C intron_variant MALY-DE 16 69899787 69899787 single base substitution C T intron_variant MALY-DE 16 69915145 69915145 single base substitution A G intron_variant MALY-DE 16 69919572 69919572 single base substitution G A intron_variant MALY-DE 16 69924845 69924845 single base substitution C T downstream_gene_variant MALY-DE 16 69924845 69924845 single base substitution C T intron_variant MALY-DE 16 69924845 69924845 single base substitution C T upstream_gene_variant MALY-DE 16 69925261 69925261 single base substitution T G downstream_gene_variant MALY-DE 16 69925261 69925261 single base substitution T G intron_variant MALY-DE 16 69925261 69925261 single base substitution T G upstream_gene_variant MALY-DE 16 69929928 69929928 single base substitution T A intron_variant MALY-DE 16 69935390 69935390 single base substitution A G intron_variant MALY-DE 16 69938448 69938448 single base substitution T A intron_variant MALY-DE 16 69944960 69944960 single base substitution T C downstream_gene_variant MALY-DE 16 69944960 69944960 single base substitution T C intron_variant MALY-DE 16 69952600 69952600 single base substitution T C intron_variant MALY-DE 16 69952684 69952684 single base substitution G A intron_variant MALY-DE 16 69952696 69952696 single base substitution T A intron_variant MALY-DE 16 69954520 69954520 single base substitution C A intron_variant MALY-DE 16 69954520 69954520 single base substitution C A upstream_gene_variant MALY-DE 16 69956338 69956338 single base substitution A G intron_variant MALY-DE 16 69956338 69956338 single base substitution A G upstream_gene_variant MALY-DE 16 69960697 69960697 single base substitution G A downstream_gene_variant MALY-DE 16 69960697 69960697 single base substitution G A intron_variant MALY-DE 16 69960697 69960697 single base substitution G A upstream_gene_variant MALY-DE 16 69962490 69962490 single base substitution G A downstream_gene_variant MALY-DE 16 69962490 69962490 single base substitution G A intron_variant MALY-DE 16 69962490 69962490 single base substitution G A upstream_gene_variant MALY-DE 16 69964170 69964170 single base substitution T G downstream_gene_variant MALY-DE 16 69964170 69964170 single base substitution T G intron_variant MALY-DE 16 69964170 69964170 single base substitution T G upstream_gene_variant MALY-DE 16 69964184 69964184 single base substitution A T downstream_gene_variant MALY-DE 16 69964184 69964184 single base substitution A T intron_variant MALY-DE 16 69964184 69964184 single base substitution A T upstream_gene_variant MALY-DE 16 69973655 69973655 single base substitution C G downstream_gene_variant MALY-DE 16 69973655 69973655 single base substitution C G intron_variant MALY-DE 16 69976041 69976041 single base substitution G A downstream_gene_variant MALY-DE 16 69979191 69979191 insertion of <=200bp - AAAAC downstream_gene_variant MELA-AU 16 69791239 69791239 single base substitution C T upstream_gene_variant MELA-AU 16 69791370 69791370 single base substitution C T upstream_gene_variant MELA-AU 16 69791922 69791922 single base substitution C T upstream_gene_variant MELA-AU 16 69791958 69791958 single base substitution C T upstream_gene_variant MELA-AU 16 69791959 69791959 single base substitution C T upstream_gene_variant MELA-AU 16 69792088 69792088 single base substitution C T upstream_gene_variant MELA-AU 16 69792141 69792141 single base substitution G A upstream_gene_variant MELA-AU 16 69792778 69792778 single base substitution C A upstream_gene_variant MELA-AU 16 69792866 69792866 single base substitution C T upstream_gene_variant MELA-AU 16 69792914 69792914 single base substitution C T upstream_gene_variant MELA-AU 16 69793076 69793076 single base substitution T A upstream_gene_variant MELA-AU 16 69793102 69793102 single base substitution C T upstream_gene_variant MELA-AU 16 69793163 69793163 single base substitution T C upstream_gene_variant MELA-AU 16 69793761 69793761 deletion of <=200bp A - upstream_gene_variant MELA-AU 16 69793817 69793817 single base substitution C T upstream_gene_variant MELA-AU 16 69794817 69794817 single base substitution C T upstream_gene_variant MELA-AU 16 69794944 69794944 single base substitution G A upstream_gene_variant MELA-AU 16 69794988 69794988 single base substitution C T upstream_gene_variant MELA-AU 16 69795140 69795140 single base substitution C T upstream_gene_variant MELA-AU 16 69795447 69795447 single base substitution G C upstream_gene_variant MELA-AU 16 69795449 69795449 single base substitution C T upstream_gene_variant MELA-AU 16 69795922 69795923 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 69796280 69796280 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 69796280 69796280 single base substitution C T exon_variant MELA-AU 16 69797995 69797995 single base substitution A C intron_variant MELA-AU 16 69798150 69798150 single base substitution T C intron_variant MELA-AU 16 69799136 69799136 single base substitution C A intron_variant MELA-AU 16 69799210 69799210 single base substitution C T intron_variant MELA-AU 16 69799337 69799337 single base substitution G A intron_variant MELA-AU 16 69800980 69800980 single base substitution G T intron_variant MELA-AU 16 69801829 69801829 single base substitution C T intron_variant MELA-AU 16 69801935 69801935 single base substitution C T intron_variant MELA-AU 16 69802497 69802497 single base substitution G A intron_variant MELA-AU 16 69802636 69802636 single base substitution C T intron_variant MELA-AU 16 69802695 69802695 single base substitution C T intron_variant MELA-AU 16 69803027 69803027 single base substitution C T intron_variant MELA-AU 16 69803943 69803943 single base substitution T A intron_variant MELA-AU 16 69804222 69804222 single base substitution T C intron_variant MELA-AU 16 69805164 69805164 single base substitution C T intron_variant MELA-AU 16 69805164 69805164 single base substitution C T upstream_gene_variant MELA-AU 16 69805350 69805350 single base substitution A T intron_variant MELA-AU 16 69805350 69805350 single base substitution A T upstream_gene_variant MELA-AU 16 69806272 69806272 single base substitution C T intron_variant MELA-AU 16 69806272 69806272 single base substitution C T upstream_gene_variant MELA-AU 16 69806940 69806940 single base substitution C T intron_variant MELA-AU 16 69806940 69806940 single base substitution C T upstream_gene_variant MELA-AU 16 69807051 69807051 single base substitution C T intron_variant MELA-AU 16 69807051 69807051 single base substitution C T upstream_gene_variant MELA-AU 16 69807301 69807301 single base substitution C T intron_variant MELA-AU 16 69807301 69807301 single base substitution C T upstream_gene_variant MELA-AU 16 69807417 69807417 single base substitution C T intron_variant MELA-AU 16 69807417 69807417 single base substitution C T upstream_gene_variant MELA-AU 16 69807651 69807651 single base substitution C T intron_variant MELA-AU 16 69807651 69807651 single base substitution C T upstream_gene_variant MELA-AU 16 69810431 69810431 single base substitution C T intron_variant MELA-AU 16 69811270 69811271 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 16 69811668 69811668 single base substitution T C intron_variant MELA-AU 16 69811767 69811767 single base substitution C T intron_variant MELA-AU 16 69812376 69812376 single base substitution C T intron_variant MELA-AU 16 69812410 69812410 single base substitution C T intron_variant MELA-AU 16 69812417 69812417 single base substitution C T intron_variant MELA-AU 16 69812635 69812635 single base substitution C T intron_variant MELA-AU 16 69813190 69813190 single base substitution G A intron_variant MELA-AU 16 69813999 69814000 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 16 69814733 69814733 single base substitution C T intron_variant MELA-AU 16 69815222 69815222 single base substitution C T intron_variant MELA-AU 16 69815968 69815968 single base substitution C T intron_variant MELA-AU 16 69815968 69815968 single base substitution C T upstream_gene_variant MELA-AU 16 69816159 69816159 single base substitution C A intron_variant MELA-AU 16 69816159 69816159 single base substitution C A upstream_gene_variant MELA-AU 16 69816484 69816484 single base substitution C T intron_variant MELA-AU 16 69816484 69816484 single base substitution C T upstream_gene_variant MELA-AU 16 69818674 69818674 single base substitution T C intron_variant MELA-AU 16 69818674 69818674 single base substitution T C upstream_gene_variant MELA-AU 16 69818887 69818887 single base substitution C T intron_variant MELA-AU 16 69818887 69818887 single base substitution C T upstream_gene_variant MELA-AU 16 69819071 69819071 single base substitution G A intron_variant MELA-AU 16 69819071 69819071 single base substitution G A upstream_gene_variant MELA-AU 16 69819874 69819874 single base substitution C T intron_variant MELA-AU 16 69819874 69819874 single base substitution C T upstream_gene_variant MELA-AU 16 69820256 69820257 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 16 69820256 69820257 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 16 69820289 69820289 single base substitution C T intron_variant MELA-AU 16 69820289 69820289 single base substitution C T upstream_gene_variant MELA-AU 16 69820678 69820678 single base substitution C T intron_variant MELA-AU 16 69820678 69820678 single base substitution C T upstream_gene_variant MELA-AU 16 69821272 69821272 single base substitution C T intron_variant MELA-AU 16 69821273 69821273 single base substitution C T intron_variant MELA-AU 16 69821458 69821459 multiple base substitution (>=2bp and <=200bp) AC TA intron_variant MELA-AU 16 69821634 69821634 single base substitution G A intron_variant MELA-AU 16 69822448 69822448 single base substitution C T downstream_gene_variant MELA-AU 16 69822448 69822448 single base substitution C T intron_variant MELA-AU 16 69822566 69822566 single base substitution C T downstream_gene_variant MELA-AU 16 69822566 69822566 single base substitution C T intron_variant MELA-AU 16 69823474 69823474 single base substitution C T downstream_gene_variant MELA-AU 16 69823474 69823474 single base substitution C T intron_variant MELA-AU 16 69824032 69824032 single base substitution C T downstream_gene_variant MELA-AU 16 69824032 69824032 single base substitution C T intron_variant MELA-AU 16 69824138 69824138 single base substitution G A downstream_gene_variant MELA-AU 16 69824138 69824138 single base substitution G A intron_variant MELA-AU 16 69824574 69824574 single base substitution G A downstream_gene_variant MELA-AU 16 69824574 69824574 single base substitution G A intron_variant MELA-AU 16 69824818 69824818 single base substitution C T downstream_gene_variant MELA-AU 16 69824818 69824818 single base substitution C T intron_variant MELA-AU 16 69825459 69825459 single base substitution C T downstream_gene_variant MELA-AU 16 69825459 69825459 single base substitution C T intron_variant MELA-AU 16 69825651 69825652 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 69825651 69825652 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 69825671 69825671 single base substitution C T downstream_gene_variant MELA-AU 16 69825671 69825671 single base substitution C T intron_variant MELA-AU 16 69825994 69825994 single base substitution C T downstream_gene_variant MELA-AU 16 69825994 69825994 single base substitution C T intron_variant MELA-AU 16 69826148 69826148 single base substitution C T downstream_gene_variant MELA-AU 16 69826148 69826148 single base substitution C T intron_variant MELA-AU 16 69826174 69826174 single base substitution C T downstream_gene_variant MELA-AU 16 69826174 69826174 single base substitution C T intron_variant MELA-AU 16 69826635 69826636 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 69826635 69826636 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69826813 69826813 single base substitution C T downstream_gene_variant MELA-AU 16 69826813 69826813 single base substitution C T intron_variant MELA-AU 16 69828338 69828339 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 69828338 69828339 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 69828963 69828963 single base substitution C T intron_variant MELA-AU 16 69828963 69828963 single base substitution C T upstream_gene_variant MELA-AU 16 69829594 69829594 single base substitution C T intron_variant MELA-AU 16 69829594 69829594 single base substitution C T upstream_gene_variant MELA-AU 16 69830316 69830316 single base substitution C T intron_variant MELA-AU 16 69830316 69830316 single base substitution C T upstream_gene_variant MELA-AU 16 69830346 69830346 single base substitution G A intron_variant MELA-AU 16 69830346 69830346 single base substitution G A upstream_gene_variant MELA-AU 16 69831048 69831048 single base substitution A G intron_variant MELA-AU 16 69831048 69831048 single base substitution A G upstream_gene_variant MELA-AU 16 69832818 69832818 single base substitution C T downstream_gene_variant MELA-AU 16 69832818 69832818 single base substitution C T exon_variant MELA-AU 16 69832818 69832818 single base substitution C T intron_variant MELA-AU 16 69832818 69832818 single base substitution C T upstream_gene_variant MELA-AU 16 69832948 69832948 single base substitution G A downstream_gene_variant MELA-AU 16 69832948 69832948 single base substitution G A intron_variant MELA-AU 16 69832948 69832948 single base substitution G A upstream_gene_variant MELA-AU 16 69833440 69833440 single base substitution C T downstream_gene_variant MELA-AU 16 69833440 69833440 single base substitution C T intron_variant MELA-AU 16 69833659 69833659 single base substitution T C downstream_gene_variant MELA-AU 16 69833659 69833659 single base substitution T C intron_variant MELA-AU 16 69833896 69833896 single base substitution C T downstream_gene_variant MELA-AU 16 69833896 69833896 single base substitution C T intron_variant MELA-AU 16 69835260 69835261 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 16 69835260 69835261 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 16 69835678 69835678 single base substitution C A downstream_gene_variant MELA-AU 16 69835678 69835678 single base substitution C A intron_variant MELA-AU 16 69836019 69836019 single base substitution G A downstream_gene_variant MELA-AU 16 69836019 69836019 single base substitution G A intron_variant MELA-AU 16 69836032 69836032 single base substitution T C downstream_gene_variant MELA-AU 16 69836032 69836032 single base substitution T C intron_variant MELA-AU 16 69836085 69836086 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 69836085 69836086 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69836086 69836086 single base substitution C T downstream_gene_variant MELA-AU 16 69836086 69836086 single base substitution C T intron_variant MELA-AU 16 69836145 69836145 single base substitution T C downstream_gene_variant MELA-AU 16 69836145 69836145 single base substitution T C intron_variant MELA-AU 16 69836293 69836293 single base substitution C T downstream_gene_variant MELA-AU 16 69836293 69836293 single base substitution C T intron_variant MELA-AU 16 69837489 69837489 single base substitution G T downstream_gene_variant MELA-AU 16 69837489 69837489 single base substitution G T intron_variant MELA-AU 16 69838015 69838015 single base substitution C T downstream_gene_variant MELA-AU 16 69838015 69838015 single base substitution C T intron_variant MELA-AU 16 69838309 69838309 single base substitution C T downstream_gene_variant MELA-AU 16 69838309 69838309 single base substitution C T intron_variant MELA-AU 16 69838499 69838499 single base substitution A C intron_variant MELA-AU 16 69838610 69838610 single base substitution C T intron_variant MELA-AU 16 69838791 69838791 single base substitution C T intron_variant MELA-AU 16 69840547 69840547 single base substitution C T intron_variant MELA-AU 16 69840871 69840871 single base substitution T C intron_variant MELA-AU 16 69841816 69841816 single base substitution C T intron_variant MELA-AU 16 69842282 69842282 single base substitution C T intron_variant MELA-AU 16 69842624 69842624 single base substitution G A intron_variant MELA-AU 16 69842668 69842668 single base substitution C T intron_variant MELA-AU 16 69843840 69843840 single base substitution C T intron_variant MELA-AU 16 69844035 69844035 single base substitution T G intron_variant MELA-AU 16 69844648 69844648 single base substitution T C intron_variant MELA-AU 16 69844671 69844671 single base substitution T A intron_variant MELA-AU 16 69844674 69844674 single base substitution T G intron_variant MELA-AU 16 69845889 69845889 single base substitution C T intron_variant MELA-AU 16 69846472 69846472 single base substitution C T intron_variant MELA-AU 16 69846480 69846480 single base substitution C T intron_variant MELA-AU 16 69846718 69846718 single base substitution C A intron_variant MELA-AU 16 69847099 69847099 single base substitution C T intron_variant MELA-AU 16 69847304 69847304 single base substitution T C intron_variant MELA-AU 16 69848838 69848838 single base substitution T C intron_variant MELA-AU 16 69848991 69848991 single base substitution C T intron_variant MELA-AU 16 69849225 69849225 single base substitution T A intron_variant MELA-AU 16 69849564 69849564 single base substitution C T intron_variant MELA-AU 16 69850002 69850002 single base substitution C T intron_variant MELA-AU 16 69850117 69850117 single base substitution A G intron_variant MELA-AU 16 69850970 69850970 single base substitution C T intron_variant MELA-AU 16 69851040 69851040 single base substitution C T intron_variant MELA-AU 16 69852145 69852145 single base substitution C T intron_variant MELA-AU 16 69852309 69852309 single base substitution C T intron_variant MELA-AU 16 69852368 69852368 single base substitution C T intron_variant MELA-AU 16 69853223 69853223 single base substitution C T intron_variant MELA-AU 16 69853690 69853690 single base substitution T A intron_variant MELA-AU 16 69853911 69853911 single base substitution G A intron_variant MELA-AU 16 69855127 69855128 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69857186 69857186 single base substitution C T intron_variant MELA-AU 16 69857465 69857465 single base substitution G A intron_variant MELA-AU 16 69858056 69858056 single base substitution C T intron_variant MELA-AU 16 69858145 69858145 single base substitution C T intron_variant MELA-AU 16 69858184 69858184 single base substitution C T intron_variant MELA-AU 16 69858199 69858199 single base substitution T C intron_variant MELA-AU 16 69859075 69859075 single base substitution C T intron_variant MELA-AU 16 69859254 69859254 single base substitution G A intron_variant MELA-AU 16 69859917 69859917 single base substitution C T intron_variant MELA-AU 16 69860468 69860468 single base substitution C T intron_variant MELA-AU 16 69860768 69860768 single base substitution G A intron_variant MELA-AU 16 69861543 69861543 single base substitution G A intron_variant MELA-AU 16 69862077 69862077 single base substitution C T intron_variant MELA-AU 16 69862218 69862218 single base substitution C T intron_variant MELA-AU 16 69862557 69862557 single base substitution C T intron_variant MELA-AU 16 69862697 69862697 single base substitution C T intron_variant MELA-AU 16 69862865 69862865 single base substitution C T intron_variant MELA-AU 16 69862898 69862899 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69863125 69863125 single base substitution C T intron_variant MELA-AU 16 69863220 69863220 single base substitution G A intron_variant MELA-AU 16 69863449 69863449 single base substitution C T intron_variant MELA-AU 16 69863717 69863717 single base substitution C T intron_variant MELA-AU 16 69864056 69864056 single base substitution C T intron_variant MELA-AU 16 69864305 69864305 single base substitution C T intron_variant MELA-AU 16 69864516 69864516 single base substitution C T intron_variant MELA-AU 16 69864836 69864836 single base substitution C T intron_variant MELA-AU 16 69865390 69865390 single base substitution C T intron_variant MELA-AU 16 69866304 69866304 single base substitution G A intron_variant MELA-AU 16 69866640 69866640 single base substitution T A intron_variant MELA-AU 16 69866671 69866671 single base substitution C T intron_variant MELA-AU 16 69866783 69866783 single base substitution G A intron_variant MELA-AU 16 69867812 69867812 single base substitution C T intron_variant MELA-AU 16 69867812 69867812 single base substitution C T upstream_gene_variant MELA-AU 16 69868401 69868401 single base substitution A C intron_variant MELA-AU 16 69868401 69868401 single base substitution A C upstream_gene_variant MELA-AU 16 69868424 69868424 single base substitution T A intron_variant MELA-AU 16 69868424 69868424 single base substitution T A upstream_gene_variant MELA-AU 16 69868521 69868521 single base substitution C T intron_variant MELA-AU 16 69868521 69868521 single base substitution C T upstream_gene_variant MELA-AU 16 69869384 69869384 single base substitution C T intron_variant MELA-AU 16 69869384 69869384 single base substitution C T upstream_gene_variant MELA-AU 16 69869533 69869534 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 69869533 69869534 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 69869547 69869547 single base substitution C T intron_variant MELA-AU 16 69869547 69869547 single base substitution C T upstream_gene_variant MELA-AU 16 69869963 69869963 single base substitution C T intron_variant MELA-AU 16 69869963 69869963 single base substitution C T upstream_gene_variant MELA-AU 16 69870325 69870325 single base substitution C T intron_variant MELA-AU 16 69870325 69870325 single base substitution C T upstream_gene_variant MELA-AU 16 69870765 69870765 single base substitution C A intron_variant MELA-AU 16 69870765 69870765 single base substitution C A upstream_gene_variant MELA-AU 16 69871709 69871709 single base substitution G A intron_variant MELA-AU 16 69871709 69871709 single base substitution G A upstream_gene_variant MELA-AU 16 69872048 69872048 single base substitution G A intron_variant MELA-AU 16 69872048 69872048 single base substitution G A upstream_gene_variant MELA-AU 16 69872266 69872266 single base substitution A T intron_variant MELA-AU 16 69872266 69872266 single base substitution A T upstream_gene_variant MELA-AU 16 69872609 69872609 single base substitution G A intron_variant MELA-AU 16 69872609 69872609 single base substitution G A upstream_gene_variant MELA-AU 16 69874518 69874518 single base substitution G A downstream_gene_variant MELA-AU 16 69874518 69874518 single base substitution G A intron_variant MELA-AU 16 69875777 69875777 single base substitution C T downstream_gene_variant MELA-AU 16 69875777 69875777 single base substitution C T intron_variant MELA-AU 16 69876034 69876034 single base substitution C T downstream_gene_variant MELA-AU 16 69876034 69876034 single base substitution C T intron_variant MELA-AU 16 69876404 69876404 single base substitution C T downstream_gene_variant MELA-AU 16 69876404 69876404 single base substitution C T intron_variant MELA-AU 16 69876552 69876552 single base substitution C T downstream_gene_variant MELA-AU 16 69876552 69876552 single base substitution C T intron_variant MELA-AU 16 69877213 69877213 single base substitution T C downstream_gene_variant MELA-AU 16 69877213 69877213 single base substitution T C intron_variant MELA-AU 16 69877568 69877568 single base substitution C T downstream_gene_variant MELA-AU 16 69877568 69877568 single base substitution C T intron_variant MELA-AU 16 69877788 69877788 single base substitution C T downstream_gene_variant MELA-AU 16 69877788 69877788 single base substitution C T intron_variant MELA-AU 16 69877985 69877985 single base substitution C T downstream_gene_variant MELA-AU 16 69877985 69877985 single base substitution C T intron_variant MELA-AU 16 69878118 69878118 single base substitution C T downstream_gene_variant MELA-AU 16 69878118 69878118 single base substitution C T intron_variant MELA-AU 16 69878539 69878539 single base substitution C T downstream_gene_variant MELA-AU 16 69878539 69878539 single base substitution C T intron_variant MELA-AU 16 69880178 69880178 single base substitution C T intron_variant MELA-AU 16 69880664 69880664 single base substitution C T intron_variant MELA-AU 16 69880973 69880973 single base substitution C T intron_variant MELA-AU 16 69881107 69881107 single base substitution C T intron_variant MELA-AU 16 69881931 69881931 single base substitution A C intron_variant MELA-AU 16 69883377 69883377 single base substitution T C intron_variant MELA-AU 16 69883381 69883381 single base substitution T C intron_variant MELA-AU 16 69883385 69883385 single base substitution T C intron_variant MELA-AU 16 69883690 69883690 single base substitution A C intron_variant MELA-AU 16 69884119 69884119 single base substitution C T intron_variant MELA-AU 16 69884526 69884526 single base substitution C T intron_variant MELA-AU 16 69885068 69885068 single base substitution C T intron_variant MELA-AU 16 69887538 69887538 single base substitution G A intron_variant MELA-AU 16 69887716 69887716 single base substitution C T intron_variant MELA-AU 16 69887756 69887756 single base substitution G A intron_variant MELA-AU 16 69887988 69887988 single base substitution C T intron_variant MELA-AU 16 69888063 69888063 single base substitution A T intron_variant MELA-AU 16 69888239 69888239 single base substitution G A intron_variant MELA-AU 16 69888617 69888617 single base substitution A T intron_variant MELA-AU 16 69888853 69888853 single base substitution G A intron_variant MELA-AU 16 69889124 69889124 single base substitution C G intron_variant MELA-AU 16 69889816 69889816 single base substitution G A intron_variant MELA-AU 16 69889972 69889972 single base substitution C T intron_variant MELA-AU 16 69890378 69890378 single base substitution C T intron_variant MELA-AU 16 69890534 69890534 single base substitution G A intron_variant MELA-AU 16 69890748 69890748 single base substitution C T intron_variant MELA-AU 16 69890775 69890775 single base substitution T C intron_variant MELA-AU 16 69890819 69890819 single base substitution T C intron_variant MELA-AU 16 69890935 69890935 single base substitution G A intron_variant MELA-AU 16 69891274 69891274 single base substitution G A intron_variant MELA-AU 16 69892638 69892638 single base substitution A C intron_variant MELA-AU 16 69892899 69892899 single base substitution C T intron_variant MELA-AU 16 69893118 69893118 single base substitution G A intron_variant MELA-AU 16 69895209 69895209 single base substitution C T intron_variant MELA-AU 16 69895638 69895638 single base substitution C T intron_variant MELA-AU 16 69895719 69895719 single base substitution T A intron_variant MELA-AU 16 69896219 69896219 single base substitution C T intron_variant MELA-AU 16 69897020 69897020 single base substitution G A intron_variant MELA-AU 16 69897042 69897042 single base substitution C T intron_variant MELA-AU 16 69897363 69897363 single base substitution G A intron_variant MELA-AU 16 69897686 69897686 single base substitution G A intron_variant MELA-AU 16 69897824 69897824 single base substitution C T intron_variant MELA-AU 16 69898146 69898146 single base substitution C T intron_variant MELA-AU 16 69898617 69898617 single base substitution G A intron_variant MELA-AU 16 69898688 69898688 single base substitution G A intron_variant MELA-AU 16 69899015 69899015 single base substitution T G intron_variant MELA-AU 16 69899731 69899731 single base substitution C T intron_variant MELA-AU 16 69900372 69900372 single base substitution C T intron_variant MELA-AU 16 69900617 69900617 single base substitution T C intron_variant MELA-AU 16 69900617 69900617 single base substitution T C upstream_gene_variant MELA-AU 16 69900999 69900999 single base substitution G A intron_variant MELA-AU 16 69900999 69900999 single base substitution G A upstream_gene_variant MELA-AU 16 69901263 69901263 single base substitution C T intron_variant MELA-AU 16 69901263 69901263 single base substitution C T upstream_gene_variant MELA-AU 16 69901319 69901319 single base substitution C G intron_variant MELA-AU 16 69901319 69901319 single base substitution C G upstream_gene_variant MELA-AU 16 69901743 69901743 single base substitution C T intron_variant MELA-AU 16 69901743 69901743 single base substitution C T upstream_gene_variant MELA-AU 16 69902424 69902424 single base substitution G A intron_variant MELA-AU 16 69902424 69902424 single base substitution G A upstream_gene_variant MELA-AU 16 69902589 69902589 single base substitution C G intron_variant MELA-AU 16 69902589 69902589 single base substitution C G upstream_gene_variant MELA-AU 16 69903149 69903149 single base substitution C T intron_variant MELA-AU 16 69903149 69903149 single base substitution C T upstream_gene_variant MELA-AU 16 69903182 69903182 single base substitution C T intron_variant MELA-AU 16 69903182 69903182 single base substitution C T upstream_gene_variant MELA-AU 16 69903433 69903433 single base substitution G A intron_variant MELA-AU 16 69903433 69903433 single base substitution G A upstream_gene_variant MELA-AU 16 69903445 69903445 single base substitution C T intron_variant MELA-AU 16 69903445 69903445 single base substitution C T upstream_gene_variant MELA-AU 16 69903747 69903747 single base substitution C T intron_variant MELA-AU 16 69903747 69903747 single base substitution C T upstream_gene_variant MELA-AU 16 69903779 69903779 single base substitution T G intron_variant MELA-AU 16 69903779 69903779 single base substitution T G upstream_gene_variant MELA-AU 16 69903825 69903826 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69903825 69903826 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 69904244 69904244 single base substitution C T intron_variant MELA-AU 16 69904244 69904244 single base substitution C T upstream_gene_variant MELA-AU 16 69904530 69904530 single base substitution C T intron_variant MELA-AU 16 69904530 69904530 single base substitution C T upstream_gene_variant MELA-AU 16 69904961 69904961 single base substitution G A intron_variant MELA-AU 16 69904961 69904961 single base substitution G A upstream_gene_variant MELA-AU 16 69905141 69905141 single base substitution C T intron_variant MELA-AU 16 69905141 69905141 single base substitution C T upstream_gene_variant MELA-AU 16 69906456 69906456 single base substitution G T downstream_gene_variant MELA-AU 16 69906456 69906456 single base substitution G T intron_variant MELA-AU 16 69906960 69906960 single base substitution T G downstream_gene_variant MELA-AU 16 69906960 69906960 single base substitution T G intron_variant MELA-AU 16 69907441 69907441 single base substitution C T downstream_gene_variant MELA-AU 16 69907441 69907441 single base substitution C T intron_variant MELA-AU 16 69907467 69907467 single base substitution C T downstream_gene_variant MELA-AU 16 69907467 69907467 single base substitution C T intron_variant MELA-AU 16 69907515 69907515 single base substitution C G downstream_gene_variant MELA-AU 16 69907515 69907515 single base substitution C G intron_variant MELA-AU 16 69908082 69908082 single base substitution G A downstream_gene_variant MELA-AU 16 69908082 69908082 single base substitution G A intron_variant MELA-AU 16 69908244 69908244 single base substitution C T downstream_gene_variant MELA-AU 16 69908244 69908244 single base substitution C T intron_variant MELA-AU 16 69908282 69908282 single base substitution C T downstream_gene_variant MELA-AU 16 69908282 69908282 single base substitution C T intron_variant MELA-AU 16 69908311 69908311 single base substitution C T downstream_gene_variant MELA-AU 16 69908311 69908311 single base substitution C T intron_variant MELA-AU 16 69909018 69909018 single base substitution C T downstream_gene_variant MELA-AU 16 69909018 69909018 single base substitution C T intron_variant MELA-AU 16 69910215 69910215 single base substitution C T downstream_gene_variant MELA-AU 16 69910215 69910215 single base substitution C T intron_variant MELA-AU 16 69911020 69911020 single base substitution C T intron_variant MELA-AU 16 69911054 69911054 single base substitution C T intron_variant MELA-AU 16 69911079 69911079 single base substitution C T intron_variant MELA-AU 16 69911392 69911392 single base substitution C T intron_variant MELA-AU 16 69911505 69911505 single base substitution G C intron_variant MELA-AU 16 69912082 69912082 single base substitution C T intron_variant MELA-AU 16 69912124 69912124 single base substitution G A intron_variant MELA-AU 16 69912376 69912376 single base substitution C T intron_variant MELA-AU 16 69912403 69912403 single base substitution T A intron_variant MELA-AU 16 69912686 69912686 single base substitution C T intron_variant MELA-AU 16 69913280 69913280 single base substitution C T intron_variant MELA-AU 16 69913456 69913456 single base substitution C T intron_variant MELA-AU 16 69913848 69913848 single base substitution C T intron_variant MELA-AU 16 69914314 69914314 single base substitution C T intron_variant MELA-AU 16 69914573 69914573 single base substitution G C intron_variant MELA-AU 16 69914886 69914886 single base substitution C T intron_variant MELA-AU 16 69915063 69915063 single base substitution C T intron_variant MELA-AU 16 69915137 69915137 single base substitution C T intron_variant MELA-AU 16 69915685 69915685 single base substitution C T intron_variant MELA-AU 16 69915768 69915768 single base substitution C T intron_variant MELA-AU 16 69915821 69915821 single base substitution C T intron_variant MELA-AU 16 69915891 69915891 single base substitution C T intron_variant MELA-AU 16 69916052 69916052 single base substitution T C intron_variant MELA-AU 16 69916057 69916057 single base substitution C T intron_variant MELA-AU 16 69916084 69916084 single base substitution C T intron_variant MELA-AU 16 69916371 69916371 single base substitution T C intron_variant MELA-AU 16 69916422 69916422 single base substitution C T intron_variant MELA-AU 16 69917809 69917809 single base substitution G A intron_variant MELA-AU 16 69917856 69917856 single base substitution C T intron_variant MELA-AU 16 69918554 69918554 single base substitution G A intron_variant MELA-AU 16 69920059 69920059 single base substitution C T intron_variant MELA-AU 16 69920059 69920059 single base substitution C T upstream_gene_variant MELA-AU 16 69920248 69920248 single base substitution G A intron_variant MELA-AU 16 69920248 69920248 single base substitution G A upstream_gene_variant MELA-AU 16 69921418 69921419 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69921418 69921419 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 69921508 69921508 single base substitution C T intron_variant MELA-AU 16 69921508 69921508 single base substitution C T upstream_gene_variant MELA-AU 16 69921528 69921528 single base substitution C T intron_variant MELA-AU 16 69921528 69921528 single base substitution C T upstream_gene_variant MELA-AU 16 69922017 69922017 single base substitution C T exon_variant MELA-AU 16 69922017 69922017 single base substitution C T missense_variant P144L 431C>T MELA-AU 16 69922017 69922017 single base substitution C T missense_variant P260L 779C>T MELA-AU 16 69922017 69922017 single base substitution C T upstream_gene_variant MELA-AU 16 69922611 69922611 single base substitution C T downstream_gene_variant MELA-AU 16 69922611 69922611 single base substitution C T intron_variant MELA-AU 16 69922611 69922611 single base substitution C T upstream_gene_variant MELA-AU 16 69923275 69923275 single base substitution G C downstream_gene_variant MELA-AU 16 69923275 69923275 single base substitution G C intron_variant MELA-AU 16 69923275 69923275 single base substitution G C upstream_gene_variant MELA-AU 16 69923499 69923499 single base substitution G A downstream_gene_variant MELA-AU 16 69923499 69923499 single base substitution G A intron_variant MELA-AU 16 69923499 69923499 single base substitution G A upstream_gene_variant MELA-AU 16 69923948 69923948 single base substitution C T downstream_gene_variant MELA-AU 16 69923948 69923948 single base substitution C T intron_variant MELA-AU 16 69923948 69923948 single base substitution C T upstream_gene_variant MELA-AU 16 69924119 69924119 single base substitution T G downstream_gene_variant MELA-AU 16 69924119 69924119 single base substitution T G intron_variant MELA-AU 16 69924119 69924119 single base substitution T G upstream_gene_variant MELA-AU 16 69924513 69924513 single base substitution T C downstream_gene_variant MELA-AU 16 69924513 69924513 single base substitution T C intron_variant MELA-AU 16 69924513 69924513 single base substitution T C upstream_gene_variant MELA-AU 16 69925801 69925801 single base substitution C T downstream_gene_variant MELA-AU 16 69925801 69925801 single base substitution C T intron_variant MELA-AU 16 69925801 69925801 single base substitution C T upstream_gene_variant MELA-AU 16 69925938 69925938 single base substitution G A downstream_gene_variant MELA-AU 16 69925938 69925938 single base substitution G A intron_variant MELA-AU 16 69925938 69925938 single base substitution G A upstream_gene_variant MELA-AU 16 69926139 69926139 single base substitution G C downstream_gene_variant MELA-AU 16 69926139 69926139 single base substitution G C intron_variant MELA-AU 16 69926139 69926139 single base substitution G C upstream_gene_variant MELA-AU 16 69926152 69926152 single base substitution C T downstream_gene_variant MELA-AU 16 69926152 69926152 single base substitution C T intron_variant MELA-AU 16 69926152 69926152 single base substitution C T upstream_gene_variant MELA-AU 16 69926235 69926235 single base substitution C T downstream_gene_variant MELA-AU 16 69926235 69926235 single base substitution C T intron_variant MELA-AU 16 69926235 69926235 single base substitution C T upstream_gene_variant MELA-AU 16 69926681 69926681 single base substitution C T downstream_gene_variant MELA-AU 16 69926681 69926681 single base substitution C T intron_variant MELA-AU 16 69926681 69926681 single base substitution C T upstream_gene_variant MELA-AU 16 69928510 69928510 single base substitution T C intron_variant MELA-AU 16 69928510 69928510 single base substitution T C upstream_gene_variant MELA-AU 16 69928687 69928687 single base substitution T A intron_variant MELA-AU 16 69928687 69928687 single base substitution T A upstream_gene_variant MELA-AU 16 69930452 69930452 single base substitution A G intron_variant MELA-AU 16 69930740 69930740 single base substitution T A intron_variant MELA-AU 16 69930882 69930882 single base substitution C T intron_variant MELA-AU 16 69931488 69931488 single base substitution C T intron_variant MELA-AU 16 69931562 69931562 single base substitution C G intron_variant MELA-AU 16 69931878 69931878 single base substitution C T intron_variant MELA-AU 16 69933525 69933525 single base substitution C T intron_variant MELA-AU 16 69933759 69933759 single base substitution G A intron_variant MELA-AU 16 69934270 69934270 single base substitution C T intron_variant MELA-AU 16 69935921 69935921 single base substitution C T intron_variant MELA-AU 16 69936244 69936244 single base substitution A C intron_variant MELA-AU 16 69936691 69936691 single base substitution T C intron_variant MELA-AU 16 69936870 69936870 single base substitution C T intron_variant MELA-AU 16 69936956 69936956 single base substitution G A intron_variant MELA-AU 16 69937074 69937074 single base substitution C T intron_variant MELA-AU 16 69937342 69937342 single base substitution C T intron_variant MELA-AU 16 69937373 69937373 single base substitution T C intron_variant MELA-AU 16 69938190 69938190 single base substitution C T intron_variant MELA-AU 16 69938256 69938256 single base substitution T C intron_variant MELA-AU 16 69939443 69939443 single base substitution C T intron_variant MELA-AU 16 69939569 69939569 single base substitution C G intron_variant MELA-AU 16 69939707 69939707 single base substitution C T intron_variant MELA-AU 16 69939772 69939772 single base substitution C T intron_variant MELA-AU 16 69940396 69940396 single base substitution C T intron_variant MELA-AU 16 69941087 69941087 single base substitution C T intron_variant MELA-AU 16 69941378 69941378 single base substitution C T intron_variant MELA-AU 16 69941771 69941771 single base substitution T A intron_variant MELA-AU 16 69942056 69942056 single base substitution G A intron_variant MELA-AU 16 69943009 69943009 single base substitution A G 3_prime_UTR_variant MELA-AU 16 69943009 69943009 single base substitution A G downstream_gene_variant MELA-AU 16 69943009 69943009 single base substitution A G intron_variant MELA-AU 16 69943085 69943085 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69943085 69943085 single base substitution C T downstream_gene_variant MELA-AU 16 69943085 69943085 single base substitution C T intron_variant MELA-AU 16 69943108 69943108 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69943108 69943108 single base substitution C T downstream_gene_variant MELA-AU 16 69943108 69943108 single base substitution C T intron_variant MELA-AU 16 69943137 69943137 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69943137 69943137 single base substitution C T downstream_gene_variant MELA-AU 16 69943137 69943137 single base substitution C T intron_variant MELA-AU 16 69943494 69943494 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69943494 69943494 single base substitution C T downstream_gene_variant MELA-AU 16 69943494 69943494 single base substitution C T intron_variant MELA-AU 16 69943662 69943662 single base substitution G A 3_prime_UTR_variant MELA-AU 16 69943662 69943662 single base substitution G A downstream_gene_variant MELA-AU 16 69943662 69943662 single base substitution G A intron_variant MELA-AU 16 69943765 69943765 single base substitution G A 3_prime_UTR_variant MELA-AU 16 69943765 69943765 single base substitution G A downstream_gene_variant MELA-AU 16 69943765 69943765 single base substitution G A intron_variant MELA-AU 16 69944013 69944014 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 69944013 69944014 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 69944013 69944014 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69944094 69944094 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69944094 69944094 single base substitution C T downstream_gene_variant MELA-AU 16 69944094 69944094 single base substitution C T intron_variant MELA-AU 16 69944665 69944665 single base substitution C T downstream_gene_variant MELA-AU 16 69944665 69944665 single base substitution C T intron_variant MELA-AU 16 69944899 69944899 single base substitution C T downstream_gene_variant MELA-AU 16 69944899 69944899 single base substitution C T intron_variant MELA-AU 16 69945380 69945380 single base substitution G T downstream_gene_variant MELA-AU 16 69945380 69945380 single base substitution G T intron_variant MELA-AU 16 69945817 69945818 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 69945817 69945818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69946018 69946018 single base substitution C T downstream_gene_variant MELA-AU 16 69946018 69946018 single base substitution C T intron_variant MELA-AU 16 69946189 69946189 single base substitution C T downstream_gene_variant MELA-AU 16 69946189 69946189 single base substitution C T intron_variant MELA-AU 16 69948975 69948975 single base substitution C T downstream_gene_variant MELA-AU 16 69948975 69948975 single base substitution C T intron_variant MELA-AU 16 69948975 69948975 single base substitution C T upstream_gene_variant MELA-AU 16 69949008 69949008 single base substitution G A downstream_gene_variant MELA-AU 16 69949008 69949008 single base substitution G A intron_variant MELA-AU 16 69949008 69949008 single base substitution G A upstream_gene_variant MELA-AU 16 69949600 69949600 single base substitution C T intron_variant MELA-AU 16 69949600 69949600 single base substitution C T upstream_gene_variant MELA-AU 16 69949685 69949685 single base substitution C T intron_variant MELA-AU 16 69949685 69949685 single base substitution C T upstream_gene_variant MELA-AU 16 69950723 69950723 single base substitution T C intron_variant MELA-AU 16 69950723 69950723 single base substitution T C upstream_gene_variant MELA-AU 16 69951182 69951182 single base substitution C T intron_variant MELA-AU 16 69951182 69951182 single base substitution C T upstream_gene_variant MELA-AU 16 69951609 69951609 single base substitution C T exon_variant MELA-AU 16 69951609 69951609 single base substitution C T splice_region_variant MELA-AU 16 69951908 69951908 single base substitution C T intron_variant MELA-AU 16 69952309 69952309 single base substitution C T intron_variant MELA-AU 16 69952531 69952531 single base substitution C T intron_variant MELA-AU 16 69952626 69952626 single base substitution C T intron_variant MELA-AU 16 69952748 69952748 single base substitution C T intron_variant MELA-AU 16 69952994 69952994 single base substitution T C intron_variant MELA-AU 16 69953076 69953102 deletion of <=200bp TCTTTTTTTTAAGATGGAGTTTTGCTC - intron_variant MELA-AU 16 69953110 69953110 single base substitution C T intron_variant MELA-AU 16 69953111 69953111 single base substitution C T intron_variant MELA-AU 16 69953301 69953301 single base substitution C T intron_variant MELA-AU 16 69953311 69953311 single base substitution C T intron_variant MELA-AU 16 69953369 69953370 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69953386 69953386 single base substitution C T intron_variant MELA-AU 16 69953953 69953953 single base substitution C T intron_variant MELA-AU 16 69953953 69953953 single base substitution C T upstream_gene_variant MELA-AU 16 69954094 69954094 single base substitution G A intron_variant MELA-AU 16 69954094 69954094 single base substitution G A upstream_gene_variant MELA-AU 16 69954890 69954890 single base substitution G A intron_variant MELA-AU 16 69954890 69954890 single base substitution G A upstream_gene_variant MELA-AU 16 69955510 69955510 single base substitution C T intron_variant MELA-AU 16 69955510 69955510 single base substitution C T upstream_gene_variant MELA-AU 16 69956459 69956459 single base substitution C T intron_variant MELA-AU 16 69956459 69956459 single base substitution C T upstream_gene_variant MELA-AU 16 69956928 69956928 single base substitution G A intron_variant MELA-AU 16 69956928 69956928 single base substitution G A upstream_gene_variant MELA-AU 16 69957051 69957051 single base substitution C T intron_variant MELA-AU 16 69957051 69957051 single base substitution C T upstream_gene_variant MELA-AU 16 69957501 69957501 single base substitution C T intron_variant MELA-AU 16 69957501 69957501 single base substitution C T upstream_gene_variant MELA-AU 16 69957810 69957810 single base substitution C T intron_variant MELA-AU 16 69957810 69957810 single base substitution C T upstream_gene_variant MELA-AU 16 69957864 69957864 single base substitution C T intron_variant MELA-AU 16 69957864 69957864 single base substitution C T upstream_gene_variant MELA-AU 16 69958453 69958453 single base substitution C T intron_variant MELA-AU 16 69958453 69958453 single base substitution C T upstream_gene_variant MELA-AU 16 69958754 69958754 single base substitution G A intron_variant MELA-AU 16 69958754 69958754 single base substitution G A upstream_gene_variant MELA-AU 16 69958820 69958820 single base substitution C T intron_variant MELA-AU 16 69958820 69958820 single base substitution C T upstream_gene_variant MELA-AU 16 69958893 69958893 single base substitution C T 5_prime_UTR_variant MELA-AU 16 69958893 69958893 single base substitution C T intron_variant MELA-AU 16 69958893 69958893 single base substitution C T upstream_gene_variant MELA-AU 16 69959481 69959481 single base substitution C T intron_variant MELA-AU 16 69959481 69959481 single base substitution C T upstream_gene_variant MELA-AU 16 69959516 69959516 single base substitution C T intron_variant MELA-AU 16 69959516 69959516 single base substitution C T upstream_gene_variant MELA-AU 16 69959923 69959923 single base substitution T G exon_variant MELA-AU 16 69959923 69959923 single base substitution T G intron_variant MELA-AU 16 69959923 69959923 single base substitution T G upstream_gene_variant MELA-AU 16 69960427 69960427 single base substitution C T downstream_gene_variant MELA-AU 16 69960427 69960427 single base substitution C T intron_variant MELA-AU 16 69960427 69960427 single base substitution C T upstream_gene_variant MELA-AU 16 69961436 69961436 single base substitution C T downstream_gene_variant MELA-AU 16 69961436 69961436 single base substitution C T intron_variant MELA-AU 16 69961436 69961436 single base substitution C T upstream_gene_variant MELA-AU 16 69961620 69961620 single base substitution C T downstream_gene_variant MELA-AU 16 69961620 69961620 single base substitution C T intron_variant MELA-AU 16 69961620 69961620 single base substitution C T upstream_gene_variant MELA-AU 16 69961950 69961950 single base substitution C T downstream_gene_variant MELA-AU 16 69961950 69961950 single base substitution C T intron_variant MELA-AU 16 69961950 69961950 single base substitution C T upstream_gene_variant MELA-AU 16 69962304 69962304 single base substitution C T downstream_gene_variant MELA-AU 16 69962304 69962304 single base substitution C T intron_variant MELA-AU 16 69962304 69962304 single base substitution C T upstream_gene_variant MELA-AU 16 69962373 69962373 single base substitution C T downstream_gene_variant MELA-AU 16 69962373 69962373 single base substitution C T intron_variant MELA-AU 16 69962373 69962373 single base substitution C T upstream_gene_variant MELA-AU 16 69962485 69962485 single base substitution C T downstream_gene_variant MELA-AU 16 69962485 69962485 single base substitution C T intron_variant MELA-AU 16 69962485 69962485 single base substitution C T upstream_gene_variant MELA-AU 16 69962560 69962560 single base substitution C T downstream_gene_variant MELA-AU 16 69962560 69962560 single base substitution C T intron_variant MELA-AU 16 69962560 69962560 single base substitution C T upstream_gene_variant MELA-AU 16 69962610 69962610 single base substitution C T downstream_gene_variant MELA-AU 16 69962610 69962610 single base substitution C T intron_variant MELA-AU 16 69962610 69962610 single base substitution C T upstream_gene_variant MELA-AU 16 69963152 69963152 single base substitution C T downstream_gene_variant MELA-AU 16 69963152 69963152 single base substitution C T intron_variant MELA-AU 16 69963152 69963152 single base substitution C T upstream_gene_variant MELA-AU 16 69963809 69963809 single base substitution C T downstream_gene_variant MELA-AU 16 69963809 69963809 single base substitution C T intron_variant MELA-AU 16 69963809 69963809 single base substitution C T upstream_gene_variant MELA-AU 16 69964381 69964381 single base substitution C T downstream_gene_variant MELA-AU 16 69964381 69964381 single base substitution C T intron_variant MELA-AU 16 69964381 69964381 single base substitution C T upstream_gene_variant MELA-AU 16 69964939 69964939 single base substitution C T downstream_gene_variant MELA-AU 16 69964939 69964939 single base substitution C T intron_variant MELA-AU 16 69964939 69964939 single base substitution C T upstream_gene_variant MELA-AU 16 69965085 69965085 single base substitution C T downstream_gene_variant MELA-AU 16 69965085 69965085 single base substitution C T exon_variant MELA-AU 16 69965085 69965085 single base substitution C T synonymous_variant D376D 1128C>T MELA-AU 16 69965085 69965085 single base substitution C T synonymous_variant D492D 1476C>T MELA-AU 16 69965085 69965085 single base substitution C T synonymous_variant D53D 159C>T MELA-AU 16 69965085 69965085 single base substitution C T upstream_gene_variant MELA-AU 16 69965432 69965432 single base substitution C T downstream_gene_variant MELA-AU 16 69965432 69965432 single base substitution C T exon_variant MELA-AU 16 69965432 69965432 single base substitution C T synonymous_variant H398H 1194C>T MELA-AU 16 69965432 69965432 single base substitution C T synonymous_variant H514H 1542C>T MELA-AU 16 69965432 69965432 single base substitution C T synonymous_variant H75H 225C>T MELA-AU 16 69965432 69965432 single base substitution C T upstream_gene_variant MELA-AU 16 69965450 69965450 single base substitution C T downstream_gene_variant MELA-AU 16 69965450 69965450 single base substitution C T exon_variant MELA-AU 16 69965450 69965450 single base substitution C T synonymous_variant S404S 1212C>T MELA-AU 16 69965450 69965450 single base substitution C T synonymous_variant S520S 1560C>T MELA-AU 16 69965450 69965450 single base substitution C T synonymous_variant S81S 243C>T MELA-AU 16 69965450 69965450 single base substitution C T upstream_gene_variant MELA-AU 16 69965740 69965740 single base substitution G A downstream_gene_variant MELA-AU 16 69965740 69965740 single base substitution G A exon_variant MELA-AU 16 69965740 69965740 single base substitution G A synonymous_variant R104R 312G>A MELA-AU 16 69965740 69965740 single base substitution G A synonymous_variant R427R 1281G>A MELA-AU 16 69965740 69965740 single base substitution G A synonymous_variant R543R 1629G>A MELA-AU 16 69965740 69965740 single base substitution G A upstream_gene_variant MELA-AU 16 69965860 69965860 single base substitution G A downstream_gene_variant MELA-AU 16 69965860 69965860 single base substitution G A intron_variant MELA-AU 16 69965860 69965860 single base substitution G A upstream_gene_variant MELA-AU 16 69966170 69966170 single base substitution T C downstream_gene_variant MELA-AU 16 69966170 69966170 single base substitution T C intron_variant MELA-AU 16 69966170 69966170 single base substitution T C upstream_gene_variant MELA-AU 16 69966180 69966180 single base substitution C T downstream_gene_variant MELA-AU 16 69966180 69966180 single base substitution C T intron_variant MELA-AU 16 69966180 69966180 single base substitution C T upstream_gene_variant MELA-AU 16 69966538 69966539 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 69966538 69966539 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 69966538 69966539 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 69966568 69966568 single base substitution C T downstream_gene_variant MELA-AU 16 69966568 69966568 single base substitution C T intron_variant MELA-AU 16 69966568 69966568 single base substitution C T upstream_gene_variant MELA-AU 16 69967047 69967047 single base substitution C T downstream_gene_variant MELA-AU 16 69967047 69967047 single base substitution C T intron_variant MELA-AU 16 69967047 69967047 single base substitution C T upstream_gene_variant MELA-AU 16 69967158 69967158 single base substitution C T downstream_gene_variant MELA-AU 16 69967158 69967158 single base substitution C T intron_variant MELA-AU 16 69967158 69967158 single base substitution C T upstream_gene_variant MELA-AU 16 69967181 69967181 single base substitution C T downstream_gene_variant MELA-AU 16 69967181 69967181 single base substitution C T intron_variant MELA-AU 16 69967181 69967181 single base substitution C T upstream_gene_variant MELA-AU 16 69967454 69967454 single base substitution C T downstream_gene_variant MELA-AU 16 69967454 69967454 single base substitution C T intron_variant MELA-AU 16 69967454 69967454 single base substitution C T upstream_gene_variant MELA-AU 16 69967559 69967559 single base substitution C T downstream_gene_variant MELA-AU 16 69967559 69967559 single base substitution C T intron_variant MELA-AU 16 69967559 69967559 single base substitution C T upstream_gene_variant MELA-AU 16 69967638 69967638 single base substitution C T downstream_gene_variant MELA-AU 16 69967638 69967638 single base substitution C T intron_variant MELA-AU 16 69967638 69967638 single base substitution C T upstream_gene_variant MELA-AU 16 69967717 69967717 single base substitution C T downstream_gene_variant MELA-AU 16 69967717 69967717 single base substitution C T intron_variant MELA-AU 16 69967717 69967717 single base substitution C T upstream_gene_variant MELA-AU 16 69968090 69968090 single base substitution C T downstream_gene_variant MELA-AU 16 69968090 69968090 single base substitution C T intron_variant MELA-AU 16 69968090 69968090 single base substitution C T upstream_gene_variant MELA-AU 16 69968151 69968151 single base substitution G A downstream_gene_variant MELA-AU 16 69968151 69968151 single base substitution G A intron_variant MELA-AU 16 69968151 69968151 single base substitution G A upstream_gene_variant MELA-AU 16 69968254 69968254 single base substitution C T downstream_gene_variant MELA-AU 16 69968254 69968254 single base substitution C T intron_variant MELA-AU 16 69968254 69968254 single base substitution C T upstream_gene_variant MELA-AU 16 69968266 69968266 single base substitution C T downstream_gene_variant MELA-AU 16 69968266 69968266 single base substitution C T intron_variant MELA-AU 16 69968266 69968266 single base substitution C T upstream_gene_variant MELA-AU 16 69969034 69969034 single base substitution G A downstream_gene_variant MELA-AU 16 69969034 69969034 single base substitution G A intron_variant MELA-AU 16 69969034 69969034 single base substitution G A upstream_gene_variant MELA-AU 16 69969067 69969067 single base substitution C T downstream_gene_variant MELA-AU 16 69969067 69969067 single base substitution C T intron_variant MELA-AU 16 69969067 69969067 single base substitution C T upstream_gene_variant MELA-AU 16 69969166 69969166 single base substitution C T downstream_gene_variant MELA-AU 16 69969166 69969166 single base substitution C T intron_variant MELA-AU 16 69969166 69969166 single base substitution C T upstream_gene_variant MELA-AU 16 69969182 69969182 single base substitution C T downstream_gene_variant MELA-AU 16 69969182 69969182 single base substitution C T intron_variant MELA-AU 16 69969182 69969182 single base substitution C T upstream_gene_variant MELA-AU 16 69969527 69969527 single base substitution C T downstream_gene_variant MELA-AU 16 69969527 69969527 single base substitution C T intron_variant MELA-AU 16 69969527 69969527 single base substitution C T upstream_gene_variant MELA-AU 16 69969640 69969640 single base substitution C T downstream_gene_variant MELA-AU 16 69969640 69969640 single base substitution C T intron_variant MELA-AU 16 69969640 69969640 single base substitution C T upstream_gene_variant MELA-AU 16 69970052 69970052 single base substitution G A downstream_gene_variant MELA-AU 16 69970052 69970052 single base substitution G A intron_variant MELA-AU 16 69970052 69970052 single base substitution G A upstream_gene_variant MELA-AU 16 69970171 69970171 single base substitution C T downstream_gene_variant MELA-AU 16 69970171 69970171 single base substitution C T intron_variant MELA-AU 16 69970171 69970171 single base substitution C T upstream_gene_variant MELA-AU 16 69970431 69970431 single base substitution C T downstream_gene_variant MELA-AU 16 69970431 69970431 single base substitution C T exon_variant MELA-AU 16 69970431 69970431 single base substitution C T intron_variant MELA-AU 16 69970431 69970431 single base substitution C T upstream_gene_variant MELA-AU 16 69970750 69970751 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 69970750 69970751 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 69970750 69970751 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 69971720 69971720 single base substitution G C downstream_gene_variant MELA-AU 16 69971720 69971720 single base substitution G C intron_variant MELA-AU 16 69973593 69973593 single base substitution C T downstream_gene_variant MELA-AU 16 69973593 69973593 single base substitution C T intron_variant MELA-AU 16 69973750 69973750 single base substitution C T downstream_gene_variant MELA-AU 16 69973750 69973750 single base substitution C T exon_variant MELA-AU 16 69973750 69973750 single base substitution C T synonymous_variant N401N 1203C>T MELA-AU 16 69973750 69973750 single base substitution C T synonymous_variant N724N 2172C>T MELA-AU 16 69973750 69973750 single base substitution C T synonymous_variant N840N 2520C>T MELA-AU 16 69974479 69974479 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69974479 69974479 single base substitution C T downstream_gene_variant MELA-AU 16 69974479 69974479 single base substitution C T exon_variant MELA-AU 16 69974651 69974651 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69974651 69974651 single base substitution C T downstream_gene_variant MELA-AU 16 69974894 69974894 single base substitution C T 3_prime_UTR_variant MELA-AU 16 69974894 69974894 single base substitution C T downstream_gene_variant MELA-AU 16 69975453 69975453 single base substitution T G 3_prime_UTR_variant MELA-AU 16 69975453 69975453 single base substitution T G downstream_gene_variant MELA-AU 16 69976190 69976190 single base substitution T C downstream_gene_variant MELA-AU 16 69976494 69976494 single base substitution C T downstream_gene_variant MELA-AU 16 69976536 69976536 single base substitution C T downstream_gene_variant MELA-AU 16 69976968 69976968 single base substitution G A downstream_gene_variant MELA-AU 16 69976987 69976987 single base substitution C T downstream_gene_variant MELA-AU 16 69976990 69976990 single base substitution A G downstream_gene_variant MELA-AU 16 69976999 69976999 single base substitution C T downstream_gene_variant MELA-AU 16 69977036 69977036 single base substitution C T downstream_gene_variant MELA-AU 16 69977317 69977317 single base substitution C T downstream_gene_variant MELA-AU 16 69978256 69978256 single base substitution C T downstream_gene_variant MELA-AU 16 69978558 69978558 single base substitution T G downstream_gene_variant MELA-AU 16 69978733 69978733 single base substitution C T downstream_gene_variant MELA-AU 16 69979203 69979203 single base substitution C T downstream_gene_variant MELA-AU 16 69979222 69979222 single base substitution C T downstream_gene_variant MELA-AU 16 69979270 69979270 single base substitution C T downstream_gene_variant ORCA-IN 16 69812976 69812976 single base substitution C T intron_variant ORCA-IN 16 69817683 69817683 single base substitution T A intron_variant ORCA-IN 16 69817683 69817683 single base substitution T A upstream_gene_variant ORCA-IN 16 69851486 69851486 single base substitution C T intron_variant ORCA-IN 16 69852959 69852959 single base substitution C T intron_variant ORCA-IN 16 69886410 69886410 single base substitution C G intron_variant ORCA-IN 16 69950128 69950128 single base substitution C G intron_variant ORCA-IN 16 69950128 69950128 single base substitution C G upstream_gene_variant ORCA-IN 16 69964050 69964050 single base substitution C G downstream_gene_variant ORCA-IN 16 69964050 69964050 single base substitution C G exon_variant ORCA-IN 16 69964050 69964050 single base substitution C G missense_variant A329G 986C>G ORCA-IN 16 69964050 69964050 single base substitution C G missense_variant A445G 1334C>G ORCA-IN 16 69964050 69964050 single base substitution C G missense_variant A6G 17C>G ORCA-IN 16 69964050 69964050 single base substitution C G upstream_gene_variant OV-AU 16 69813002 69813002 single base substitution G A intron_variant OV-AU 16 69836493 69836493 single base substitution T G downstream_gene_variant OV-AU 16 69836493 69836493 single base substitution T G intron_variant OV-AU 16 69843504 69843504 single base substitution T A intron_variant OV-AU 16 69845637 69845637 single base substitution A T intron_variant OV-AU 16 69850405 69850405 single base substitution A G intron_variant OV-AU 16 69855629 69855629 single base substitution T C intron_variant OV-AU 16 69867842 69867842 single base substitution G T intron_variant OV-AU 16 69867842 69867842 single base substitution G T upstream_gene_variant OV-AU 16 69872721 69872721 single base substitution T A 5_prime_UTR_variant OV-AU 16 69872721 69872721 single base substitution T A exon_variant OV-AU 16 69872721 69872721 single base substitution T A intron_variant OV-AU 16 69877707 69877707 single base substitution G A downstream_gene_variant OV-AU 16 69877707 69877707 single base substitution G A intron_variant OV-AU 16 69880550 69880550 single base substitution C T intron_variant OV-AU 16 69880892 69880892 single base substitution G A intron_variant OV-AU 16 69883220 69883220 single base substitution C G intron_variant OV-AU 16 69906835 69906835 single base substitution T A downstream_gene_variant OV-AU 16 69906835 69906835 single base substitution T A intron_variant OV-AU 16 69906839 69906839 single base substitution A C downstream_gene_variant OV-AU 16 69906839 69906839 single base substitution A C intron_variant OV-AU 16 69911318 69911318 single base substitution A C intron_variant OV-AU 16 69912058 69912058 single base substitution T G intron_variant OV-AU 16 69918181 69918181 single base substitution C A intron_variant OV-AU 16 69923349 69923349 single base substitution A T downstream_gene_variant OV-AU 16 69923349 69923349 single base substitution A T intron_variant OV-AU 16 69923349 69923349 single base substitution A T upstream_gene_variant OV-AU 16 69923365 69923365 single base substitution G T downstream_gene_variant OV-AU 16 69923365 69923365 single base substitution G T intron_variant OV-AU 16 69923365 69923365 single base substitution G T upstream_gene_variant OV-AU 16 69925221 69925221 single base substitution G A downstream_gene_variant OV-AU 16 69925221 69925221 single base substitution G A intron_variant OV-AU 16 69925221 69925221 single base substitution G A upstream_gene_variant OV-AU 16 69934140 69934140 single base substitution C G intron_variant OV-AU 16 69938845 69938845 single base substitution C A intron_variant OV-AU 16 69941228 69941228 single base substitution C T intron_variant OV-AU 16 69943595 69943595 single base substitution G A 3_prime_UTR_variant OV-AU 16 69943595 69943595 single base substitution G A downstream_gene_variant OV-AU 16 69943595 69943595 single base substitution G A intron_variant OV-AU 16 69944107 69944107 single base substitution G A 3_prime_UTR_variant OV-AU 16 69944107 69944107 single base substitution G A downstream_gene_variant OV-AU 16 69944107 69944107 single base substitution G A intron_variant OV-AU 16 69945836 69945836 single base substitution T C downstream_gene_variant OV-AU 16 69945836 69945836 single base substitution T C intron_variant OV-AU 16 69961388 69961388 single base substitution C T downstream_gene_variant OV-AU 16 69961388 69961388 single base substitution C T intron_variant OV-AU 16 69961388 69961388 single base substitution C T upstream_gene_variant OV-AU 16 69970091 69970091 single base substitution C T downstream_gene_variant OV-AU 16 69970091 69970091 single base substitution C T intron_variant OV-AU 16 69970091 69970091 single base substitution C T upstream_gene_variant OV-AU 16 69971493 69971493 single base substitution C A downstream_gene_variant OV-AU 16 69971493 69971493 single base substitution C A exon_variant OV-AU 16 69971493 69971493 single base substitution C A missense_variant Q322K 964C>A OV-AU 16 69971493 69971493 single base substitution C A missense_variant Q645K 1933C>A OV-AU 16 69971493 69971493 single base substitution C A missense_variant Q761K 2281C>A OV-AU 16 69973559 69973559 single base substitution G C downstream_gene_variant OV-AU 16 69973559 69973559 single base substitution G C intron_variant OV-AU 16 69977131 69977131 single base substitution C A downstream_gene_variant OV-AU 16 69979167 69979167 single base substitution G T downstream_gene_variant PACA-AU 16 69791396 69791396 single base substitution C T upstream_gene_variant PACA-AU 16 69793314 69793314 single base substitution C T upstream_gene_variant PACA-AU 16 69800038 69800038 single base substitution A T intron_variant PACA-AU 16 69810388 69810388 single base substitution C T intron_variant PACA-AU 16 69812798 69812798 single base substitution C T intron_variant PACA-AU 16 69817139 69817139 single base substitution C T intron_variant PACA-AU 16 69817139 69817139 single base substitution C T upstream_gene_variant PACA-AU 16 69820875 69820877 deletion of <=200bp TTC - intron_variant PACA-AU 16 69820875 69820877 deletion of <=200bp TTC - upstream_gene_variant PACA-AU 16 69828727 69828727 single base substitution G T intron_variant PACA-AU 16 69828727 69828727 single base substitution G T upstream_gene_variant PACA-AU 16 69832638 69832638 single base substitution G A exon_variant PACA-AU 16 69832638 69832638 single base substitution G A missense_variant V42M 124G>A PACA-AU 16 69832638 69832638 single base substitution G A upstream_gene_variant PACA-AU 16 69833740 69833740 single base substitution C T downstream_gene_variant PACA-AU 16 69833740 69833740 single base substitution C T intron_variant PACA-AU 16 69835815 69835815 insertion of <=200bp - AT downstream_gene_variant PACA-AU 16 69835815 69835815 insertion of <=200bp - AT intron_variant PACA-AU 16 69843508 69843508 deletion of <=200bp A - intron_variant PACA-AU 16 69847563 69847563 single base substitution G T intron_variant PACA-AU 16 69851610 69851610 single base substitution G A intron_variant PACA-AU 16 69856452 69856452 single base substitution G T intron_variant PACA-AU 16 69856454 69856454 single base substitution T G intron_variant PACA-AU 16 69859206 69859206 single base substitution A G intron_variant PACA-AU 16 69859460 69859460 insertion of <=200bp - T intron_variant PACA-AU 16 69860059 69860059 single base substitution A T intron_variant PACA-AU 16 69862049 69862049 single base substitution G T intron_variant PACA-AU 16 69862974 69862974 single base substitution A T intron_variant PACA-AU 16 69867077 69867077 deletion of <=200bp T - intron_variant PACA-AU 16 69870438 69870438 single base substitution G A intron_variant PACA-AU 16 69870438 69870438 single base substitution G A upstream_gene_variant PACA-AU 16 69883368 69883368 insertion of <=200bp - TTAT intron_variant PACA-AU 16 69886259 69886259 single base substitution A C intron_variant PACA-AU 16 69889297 69889297 single base substitution A C intron_variant PACA-AU 16 69892709 69892709 single base substitution A C intron_variant PACA-AU 16 69927090 69927090 single base substitution G A intron_variant PACA-AU 16 69927090 69927090 single base substitution G A upstream_gene_variant PACA-AU 16 69927561 69927561 single base substitution C T intron_variant PACA-AU 16 69927561 69927561 single base substitution C T upstream_gene_variant PACA-AU 16 69927944 69927944 insertion of <=200bp - G intron_variant PACA-AU 16 69927944 69927944 insertion of <=200bp - G upstream_gene_variant PACA-AU 16 69933993 69933993 single base substitution C T intron_variant PACA-AU 16 69935482 69935482 single base substitution A T intron_variant PACA-AU 16 69936518 69936518 single base substitution G C intron_variant PACA-AU 16 69936942 69936942 single base substitution G A intron_variant PACA-AU 16 69938193 69938193 single base substitution G C intron_variant PACA-AU 16 69939320 69939320 single base substitution A C intron_variant PACA-AU 16 69944083 69944085 deletion of <=200bp CAT - 3_prime_UTR_variant PACA-AU 16 69944083 69944085 deletion of <=200bp CAT - downstream_gene_variant PACA-AU 16 69944083 69944085 deletion of <=200bp CAT - intron_variant PACA-AU 16 69944231 69944231 single base substitution G C downstream_gene_variant PACA-AU 16 69944231 69944231 single base substitution G C intron_variant PACA-AU 16 69948383 69948383 single base substitution G A downstream_gene_variant PACA-AU 16 69948383 69948383 single base substitution G A intron_variant PACA-AU 16 69948383 69948383 single base substitution G A upstream_gene_variant PACA-AU 16 69953051 69953051 single base substitution T A intron_variant PACA-AU 16 69955232 69955232 single base substitution G C intron_variant PACA-AU 16 69955232 69955232 single base substitution G C upstream_gene_variant PACA-AU 16 69959945 69959945 single base substitution C T exon_variant PACA-AU 16 69959945 69959945 single base substitution C T intron_variant PACA-AU 16 69959945 69959945 single base substitution C T upstream_gene_variant PACA-AU 16 69961795 69961795 single base substitution G A downstream_gene_variant PACA-AU 16 69961795 69961795 single base substitution G A intron_variant PACA-AU 16 69961795 69961795 single base substitution G A upstream_gene_variant PACA-AU 16 69965077 69965077 single base substitution G T downstream_gene_variant PACA-AU 16 69965077 69965077 single base substitution G T exon_variant PACA-AU 16 69965077 69965077 single base substitution G T missense_variant A374S 1120G>T PACA-AU 16 69965077 69965077 single base substitution G T missense_variant A490S 1468G>T PACA-AU 16 69965077 69965077 single base substitution G T missense_variant A51S 151G>T PACA-AU 16 69965077 69965077 single base substitution G T upstream_gene_variant PACA-AU 16 69965154 69965154 single base substitution C T downstream_gene_variant PACA-AU 16 69965154 69965154 single base substitution C T intron_variant PACA-AU 16 69965154 69965154 single base substitution C T upstream_gene_variant PACA-AU 16 69965647 69965647 single base substitution G A downstream_gene_variant PACA-AU 16 69965647 69965647 single base substitution G A exon_variant PACA-AU 16 69965647 69965647 single base substitution G A intron_variant PACA-AU 16 69965647 69965647 single base substitution G A upstream_gene_variant PACA-AU 16 69966280 69966280 insertion of <=200bp - AG downstream_gene_variant PACA-AU 16 69966280 69966280 insertion of <=200bp - AG intron_variant PACA-AU 16 69966280 69966280 insertion of <=200bp - AG upstream_gene_variant PACA-AU 16 69971154 69971154 single base substitution G T downstream_gene_variant PACA-AU 16 69971154 69971154 single base substitution G T intron_variant PACA-AU 16 69976523 69976523 single base substitution A T downstream_gene_variant PACA-AU 16 69979676 69979676 single base substitution A G downstream_gene_variant PACA-CA 16 69793081 69793081 single base substitution T G upstream_gene_variant PACA-CA 16 69793559 69793559 single base substitution T A upstream_gene_variant PACA-CA 16 69793961 69793961 insertion of <=200bp - A upstream_gene_variant PACA-CA 16 69797230 69797230 single base substitution C A intron_variant PACA-CA 16 69797554 69797554 insertion of <=200bp - A intron_variant PACA-CA 16 69798742 69798742 single base substitution T C intron_variant PACA-CA 16 69800228 69800228 single base substitution C T intron_variant PACA-CA 16 69809747 69809747 single base substitution A G intron_variant PACA-CA 16 69809747 69809747 single base substitution A G upstream_gene_variant PACA-CA 16 69817091 69817091 single base substitution T G intron_variant PACA-CA 16 69817091 69817091 single base substitution T G upstream_gene_variant PACA-CA 16 69818640 69818640 single base substitution C T intron_variant PACA-CA 16 69818640 69818640 single base substitution C T upstream_gene_variant PACA-CA 16 69823289 69823289 single base substitution C T downstream_gene_variant PACA-CA 16 69823289 69823289 single base substitution C T intron_variant PACA-CA 16 69828974 69828974 deletion of <=200bp A - intron_variant PACA-CA 16 69828974 69828974 deletion of <=200bp A - upstream_gene_variant PACA-CA 16 69830126 69830126 single base substitution C T intron_variant PACA-CA 16 69830126 69830126 single base substitution C T upstream_gene_variant PACA-CA 16 69836798 69836798 single base substitution G A downstream_gene_variant PACA-CA 16 69836798 69836798 single base substitution G A intron_variant PACA-CA 16 69837748 69837748 single base substitution T C downstream_gene_variant PACA-CA 16 69837748 69837748 single base substitution T C intron_variant PACA-CA 16 69843532 69843532 single base substitution G A intron_variant PACA-CA 16 69846874 69846874 single base substitution G A intron_variant PACA-CA 16 69852401 69852401 single base substitution C T intron_variant PACA-CA 16 69853330 69853330 single base substitution G A intron_variant PACA-CA 16 69856204 69856204 single base substitution G A intron_variant PACA-CA 16 69859439 69859439 insertion of <=200bp - T intron_variant PACA-CA 16 69862815 69862815 single base substitution A C intron_variant PACA-CA 16 69864832 69864832 single base substitution A G intron_variant PACA-CA 16 69867124 69867124 single base substitution C G intron_variant PACA-CA 16 69868424 69868424 single base substitution T A intron_variant PACA-CA 16 69868424 69868424 single base substitution T A upstream_gene_variant PACA-CA 16 69868920 69868920 single base substitution G C intron_variant PACA-CA 16 69868920 69868920 single base substitution G C upstream_gene_variant PACA-CA 16 69874625 69874625 single base substitution C G downstream_gene_variant PACA-CA 16 69874625 69874625 single base substitution C G intron_variant PACA-CA 16 69875875 69875875 single base substitution G A downstream_gene_variant PACA-CA 16 69875875 69875875 single base substitution G A intron_variant PACA-CA 16 69877164 69877164 single base substitution G A downstream_gene_variant PACA-CA 16 69877164 69877164 single base substitution G A intron_variant PACA-CA 16 69883912 69883912 single base substitution G A intron_variant PACA-CA 16 69885838 69885838 single base substitution A G intron_variant PACA-CA 16 69887106 69887106 single base substitution G A intron_variant PACA-CA 16 69887802 69887802 single base substitution G A intron_variant PACA-CA 16 69888834 69888834 single base substitution C A intron_variant PACA-CA 16 69889620 69889620 deletion of <=200bp C - intron_variant PACA-CA 16 69890370 69890370 single base substitution T A intron_variant PACA-CA 16 69896666 69896666 single base substitution A G intron_variant PACA-CA 16 69898427 69898427 single base substitution T C intron_variant PACA-CA 16 69898494 69898494 single base substitution C A intron_variant PACA-CA 16 69899828 69899828 single base substitution T A intron_variant PACA-CA 16 69901279 69901279 single base substitution C A intron_variant PACA-CA 16 69901279 69901279 single base substitution C A upstream_gene_variant PACA-CA 16 69904109 69904109 single base substitution G A intron_variant PACA-CA 16 69904109 69904109 single base substitution G A upstream_gene_variant PACA-CA 16 69906734 69906734 single base substitution C T downstream_gene_variant PACA-CA 16 69906734 69906734 single base substitution C T intron_variant PACA-CA 16 69907059 69907059 single base substitution C G downstream_gene_variant PACA-CA 16 69907059 69907059 single base substitution C G intron_variant PACA-CA 16 69908659 69908659 single base substitution A G downstream_gene_variant PACA-CA 16 69908659 69908659 single base substitution A G intron_variant PACA-CA 16 69913868 69913868 single base substitution T C intron_variant PACA-CA 16 69914544 69914544 single base substitution C A intron_variant PACA-CA 16 69917857 69917857 single base substitution G A intron_variant PACA-CA 16 69918536 69918536 insertion of <=200bp - A intron_variant PACA-CA 16 69921182 69921182 single base substitution T A intron_variant PACA-CA 16 69921182 69921182 single base substitution T A upstream_gene_variant PACA-CA 16 69921529 69921529 single base substitution G A intron_variant PACA-CA 16 69921529 69921529 single base substitution G A upstream_gene_variant PACA-CA 16 69927455 69927455 insertion of <=200bp - T intron_variant PACA-CA 16 69927455 69927455 insertion of <=200bp - T upstream_gene_variant PACA-CA 16 69930109 69930109 single base substitution C G intron_variant PACA-CA 16 69930170 69930170 single base substitution C T intron_variant PACA-CA 16 69931023 69931023 single base substitution T G intron_variant PACA-CA 16 69931766 69931766 single base substitution G A intron_variant PACA-CA 16 69932689 69932689 single base substitution C T intron_variant PACA-CA 16 69940076 69940076 single base substitution C T intron_variant PACA-CA 16 69941291 69941291 single base substitution G A intron_variant PACA-CA 16 69943314 69943314 single base substitution T A 3_prime_UTR_variant PACA-CA 16 69943314 69943314 single base substitution T A downstream_gene_variant PACA-CA 16 69943314 69943314 single base substitution T A intron_variant PACA-CA 16 69943762 69943762 single base substitution C G 3_prime_UTR_variant PACA-CA 16 69943762 69943762 single base substitution C G downstream_gene_variant PACA-CA 16 69943762 69943762 single base substitution C G intron_variant PACA-CA 16 69947244 69947244 insertion of <=200bp - T downstream_gene_variant PACA-CA 16 69947244 69947244 insertion of <=200bp - T intron_variant PACA-CA 16 69947244 69947244 insertion of <=200bp - T upstream_gene_variant PACA-CA 16 69947767 69947767 single base substitution G A downstream_gene_variant PACA-CA 16 69947767 69947767 single base substitution G A intron_variant PACA-CA 16 69947767 69947767 single base substitution G A upstream_gene_variant PACA-CA 16 69954485 69954485 single base substitution C T intron_variant PACA-CA 16 69954485 69954485 single base substitution C T upstream_gene_variant PACA-CA 16 69956919 69956919 single base substitution A C intron_variant PACA-CA 16 69956919 69956919 single base substitution A C upstream_gene_variant PACA-CA 16 69957879 69957879 single base substitution G A intron_variant PACA-CA 16 69957879 69957879 single base substitution G A upstream_gene_variant PACA-CA 16 69959510 69959510 single base substitution C T intron_variant PACA-CA 16 69959510 69959510 single base substitution C T upstream_gene_variant PACA-CA 16 69968086 69968086 single base substitution C G downstream_gene_variant PACA-CA 16 69968086 69968086 single base substitution C G intron_variant PACA-CA 16 69968086 69968086 single base substitution C G upstream_gene_variant PACA-CA 16 69969681 69969681 single base substitution A G downstream_gene_variant PACA-CA 16 69969681 69969681 single base substitution A G intron_variant PACA-CA 16 69969681 69969681 single base substitution A G upstream_gene_variant PACA-CA 16 69970308 69970308 single base substitution C T downstream_gene_variant PACA-CA 16 69970308 69970308 single base substitution C T exon_variant PACA-CA 16 69970308 69970308 single base substitution C T synonymous_variant G251G 753C>T PACA-CA 16 69970308 69970308 single base substitution C T synonymous_variant G574G 1722C>T PACA-CA 16 69970308 69970308 single base substitution C T synonymous_variant G690G 2070C>T PACA-CA 16 69970308 69970308 single base substitution C T upstream_gene_variant PACA-CA 16 69970944 69970944 single base substitution C T downstream_gene_variant PACA-CA 16 69970944 69970944 single base substitution C T exon_variant PACA-CA 16 69970944 69970944 single base substitution C T intron_variant PACA-CA 16 69971391 69971391 single base substitution G C downstream_gene_variant PACA-CA 16 69971391 69971391 single base substitution G C intron_variant PACA-CA 16 69976506 69976506 single base substitution T C downstream_gene_variant PACA-CA 16 69978560 69978560 insertion of <=200bp - G downstream_gene_variant PACA-CA 16 69980639 69980639 single base substitution A G downstream_gene_variant PAEN-AU 16 69950734 69950734 single base substitution T G intron_variant PAEN-AU 16 69950734 69950734 single base substitution T G upstream_gene_variant PAEN-AU 16 69963233 69963233 single base substitution C A downstream_gene_variant PAEN-AU 16 69963233 69963233 single base substitution C A intron_variant PAEN-AU 16 69963233 69963233 single base substitution C A upstream_gene_variant PAEN-IT 16 69880784 69880784 single base substitution C A intron_variant PAEN-IT 16 69888674 69888674 single base substitution G T intron_variant PAEN-IT 16 69961269 69961269 single base substitution C T downstream_gene_variant PAEN-IT 16 69961269 69961269 single base substitution C T intron_variant PAEN-IT 16 69961269 69961269 single base substitution C T upstream_gene_variant PAEN-IT 16 69978266 69978266 single base substitution C A downstream_gene_variant PBCA-DE 16 69796608 69796608 single base substitution A G intron_variant PBCA-DE 16 69800340 69800340 single base substitution A G intron_variant PBCA-DE 16 69804405 69804405 single base substitution C T intron_variant PBCA-DE 16 69805762 69805762 single base substitution G A intron_variant PBCA-DE 16 69805762 69805762 single base substitution G A upstream_gene_variant PBCA-DE 16 69822102 69822102 deletion of <=200bp A - exon_variant PBCA-DE 16 69822102 69822102 deletion of <=200bp A - intron_variant PBCA-DE 16 69856436 69856437 deletion of <=200bp GT - intron_variant PBCA-DE 16 69877769 69877769 single base substitution C G downstream_gene_variant PBCA-DE 16 69877769 69877769 single base substitution C G intron_variant PBCA-DE 16 69881261 69881261 single base substitution T C intron_variant PBCA-DE 16 69906180 69906180 single base substitution C T downstream_gene_variant PBCA-DE 16 69906180 69906180 single base substitution C T intron_variant PBCA-DE 16 69911633 69911634 deletion of <=200bp GA - intron_variant PBCA-DE 16 69911698 69911698 single base substitution A C intron_variant PBCA-DE 16 69912961 69912961 single base substitution G A intron_variant PBCA-DE 16 69919006 69919007 deletion of <=200bp AC - intron_variant PBCA-DE 16 69923050 69923051 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 16 69923050 69923051 deletion of <=200bp AC - intron_variant PBCA-DE 16 69923050 69923051 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 16 69929813 69929813 single base substitution C A intron_variant PBCA-DE 16 69939100 69939100 single base substitution T G intron_variant PBCA-DE 16 69946173 69946173 deletion of <=200bp C - downstream_gene_variant PBCA-DE 16 69946173 69946173 deletion of <=200bp C - intron_variant PBCA-DE 16 69950090 69950092 deletion of <=200bp TGT - intron_variant PBCA-DE 16 69950090 69950092 deletion of <=200bp TGT - upstream_gene_variant PBCA-DE 16 69955891 69955891 single base substitution C T intron_variant PBCA-DE 16 69955891 69955891 single base substitution C T upstream_gene_variant PBCA-DE 16 69960280 69960280 single base substitution C T downstream_gene_variant PBCA-DE 16 69960280 69960280 single base substitution C T intron_variant PBCA-DE 16 69960280 69960280 single base substitution C T upstream_gene_variant PBCA-DE 16 69971065 69971065 single base substitution C A downstream_gene_variant PBCA-DE 16 69971065 69971065 single base substitution C A exon_variant PBCA-DE 16 69971065 69971065 single base substitution C A missense_variant T282N 845C>A PBCA-DE 16 69971065 69971065 single base substitution C A missense_variant T605N 1814C>A PBCA-DE 16 69971065 69971065 single base substitution C A missense_variant T721N 2162C>A PRAD-CA 16 69803998 69803998 single base substitution C A intron_variant PRAD-CA 16 69808063 69808063 single base substitution A G intron_variant PRAD-CA 16 69808063 69808063 single base substitution A G upstream_gene_variant PRAD-CA 16 69811993 69811993 single base substitution T C intron_variant PRAD-CA 16 69811997 69811997 single base substitution C T intron_variant PRAD-CA 16 69830702 69830702 single base substitution G T intron_variant PRAD-CA 16 69830702 69830702 single base substitution G T upstream_gene_variant PRAD-CA 16 69838494 69838494 single base substitution G T intron_variant PRAD-CA 16 69874158 69874158 single base substitution T A downstream_gene_variant PRAD-CA 16 69874158 69874158 single base substitution T A exon_variant PRAD-CA 16 69874158 69874158 single base substitution T A missense_variant L157Q 470T>A PRAD-CA 16 69874158 69874158 single base substitution T A missense_variant L41Q 122T>A PRAD-CA 16 69897403 69897403 single base substitution G A intron_variant PRAD-CA 16 69900694 69900694 single base substitution T C intron_variant PRAD-CA 16 69900694 69900694 single base substitution T C upstream_gene_variant PRAD-CA 16 69903265 69903265 single base substitution G T intron_variant PRAD-CA 16 69903265 69903265 single base substitution G T upstream_gene_variant PRAD-CA 16 69910257 69910257 single base substitution G T downstream_gene_variant PRAD-CA 16 69910257 69910257 single base substitution G T intron_variant PRAD-CA 16 69969301 69969301 single base substitution C T downstream_gene_variant PRAD-CA 16 69969301 69969301 single base substitution C T intron_variant PRAD-CA 16 69969301 69969301 single base substitution C T upstream_gene_variant PRAD-UK 16 69815569 69815569 single base substitution A T intron_variant PRAD-UK 16 69824086 69824086 single base substitution G T downstream_gene_variant PRAD-UK 16 69824086 69824086 single base substitution G T intron_variant PRAD-UK 16 69831255 69831255 single base substitution C A intron_variant PRAD-UK 16 69831255 69831255 single base substitution C A upstream_gene_variant PRAD-UK 16 69848823 69848823 single base substitution G C intron_variant PRAD-UK 16 69890349 69890349 insertion of <=200bp - T intron_variant PRAD-UK 16 69892285 69892285 single base substitution T A intron_variant PRAD-UK 16 69922505 69922515 deletion of <=200bp ATCGTATCAGC - downstream_gene_variant PRAD-UK 16 69922505 69922515 deletion of <=200bp ATCGTATCAGC - intron_variant PRAD-UK 16 69922505 69922515 deletion of <=200bp ATCGTATCAGC - upstream_gene_variant PRAD-UK 16 69923038 69923038 single base substitution G C downstream_gene_variant PRAD-UK 16 69923038 69923038 single base substitution G C intron_variant PRAD-UK 16 69923038 69923038 single base substitution G C upstream_gene_variant PRAD-UK 16 69945763 69945763 single base substitution A G downstream_gene_variant PRAD-UK 16 69945763 69945763 single base substitution A G intron_variant PRAD-UK 16 69966797 69966797 single base substitution T G downstream_gene_variant PRAD-UK 16 69966797 69966797 single base substitution T G intron_variant PRAD-UK 16 69966797 69966797 single base substitution T G upstream_gene_variant PRAD-UK 16 69971976 69971976 insertion of <=200bp - A downstream_gene_variant PRAD-UK 16 69971976 69971976 insertion of <=200bp - A intron_variant RECA-EU 16 69793526 69793526 single base substitution A T upstream_gene_variant RECA-EU 16 69817333 69817333 single base substitution G T intron_variant RECA-EU 16 69817333 69817333 single base substitution G T upstream_gene_variant RECA-EU 16 69823923 69823923 single base substitution A G downstream_gene_variant RECA-EU 16 69823923 69823923 single base substitution A G intron_variant RECA-EU 16 69839026 69839026 single base substitution T A intron_variant RECA-EU 16 69842883 69842883 single base substitution A T intron_variant RECA-EU 16 69855016 69855016 single base substitution G T intron_variant RECA-EU 16 69865558 69865558 single base substitution T C intron_variant RECA-EU 16 69873211 69873211 single base substitution G A intron_variant RECA-EU 16 69884537 69884537 single base substitution C T intron_variant RECA-EU 16 69888021 69888021 single base substitution A G intron_variant RECA-EU 16 69915777 69915777 single base substitution G T intron_variant RECA-EU 16 69920686 69920686 single base substitution C T intron_variant RECA-EU 16 69920686 69920686 single base substitution C T upstream_gene_variant RECA-EU 16 69920687 69920687 single base substitution T G intron_variant RECA-EU 16 69920687 69920687 single base substitution T G upstream_gene_variant RECA-EU 16 69924193 69924193 single base substitution C G downstream_gene_variant RECA-EU 16 69924193 69924193 single base substitution C G intron_variant RECA-EU 16 69924193 69924193 single base substitution C G upstream_gene_variant RECA-EU 16 69931725 69931725 single base substitution G A intron_variant RECA-EU 16 69934379 69934379 single base substitution G C intron_variant RECA-EU 16 69937261 69937261 single base substitution T G intron_variant RECA-EU 16 69939517 69939517 single base substitution A T intron_variant RECA-EU 16 69941107 69941107 single base substitution T C intron_variant RECA-EU 16 69949308 69949308 single base substitution A G intron_variant RECA-EU 16 69949308 69949308 single base substitution A G upstream_gene_variant RECA-EU 16 69952343 69952343 single base substitution G C intron_variant RECA-EU 16 69953408 69953408 single base substitution G C intron_variant RECA-EU 16 69960976 69960976 single base substitution C A downstream_gene_variant RECA-EU 16 69960976 69960976 single base substitution C A intron_variant RECA-EU 16 69960976 69960976 single base substitution C A upstream_gene_variant RECA-EU 16 69965112 69965112 single base substitution G C downstream_gene_variant RECA-EU 16 69965112 69965112 single base substitution G C exon_variant RECA-EU 16 69965112 69965112 single base substitution G C missense_variant Q385H 1155G>C RECA-EU 16 69965112 69965112 single base substitution G C missense_variant Q501H 1503G>C RECA-EU 16 69965112 69965112 single base substitution G C missense_variant Q62H 186G>C RECA-EU 16 69965112 69965112 single base substitution G C upstream_gene_variant RECA-EU 16 69970282 69970282 single base substitution G T downstream_gene_variant RECA-EU 16 69970282 69970282 single base substitution G T exon_variant RECA-EU 16 69970282 69970282 single base substitution G T missense_variant V243L 727G>T RECA-EU 16 69970282 69970282 single base substitution G T missense_variant V566L 1696G>T RECA-EU 16 69970282 69970282 single base substitution G T missense_variant V682L 2044G>T RECA-EU 16 69970282 69970282 single base substitution G T upstream_gene_variant SKCA-BR 16 69791490 69791490 single base substitution C T upstream_gene_variant SKCA-BR 16 69791930 69791930 single base substitution G A upstream_gene_variant SKCA-BR 16 69792212 69792212 single base substitution C T upstream_gene_variant SKCA-BR 16 69792455 69792460 deletion of <=200bp CTTTCT - upstream_gene_variant SKCA-BR 16 69792459 69792460 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 16 69793509 69793509 single base substitution A C upstream_gene_variant SKCA-BR 16 69794399 69794400 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 16 69795191 69795191 single base substitution C T upstream_gene_variant SKCA-BR 16 69800474 69800474 single base substitution T C intron_variant SKCA-BR 16 69802624 69802624 single base substitution C T intron_variant SKCA-BR 16 69805727 69805727 single base substitution C T intron_variant SKCA-BR 16 69805727 69805727 single base substitution C T upstream_gene_variant SKCA-BR 16 69810224 69810224 single base substitution C T intron_variant SKCA-BR 16 69812076 69812076 insertion of <=200bp - AAT intron_variant SKCA-BR 16 69812093 69812093 insertion of <=200bp - ATT intron_variant SKCA-BR 16 69812097 69812097 single base substitution T A intron_variant SKCA-BR 16 69812887 69812887 single base substitution C T intron_variant SKCA-BR 16 69813615 69813615 single base substitution C T intron_variant SKCA-BR 16 69818482 69818482 single base substitution C T intron_variant SKCA-BR 16 69818482 69818482 single base substitution C T upstream_gene_variant SKCA-BR 16 69818822 69818822 single base substitution A T intron_variant SKCA-BR 16 69818822 69818822 single base substitution A T upstream_gene_variant SKCA-BR 16 69821655 69821655 single base substitution A G intron_variant SKCA-BR 16 69822699 69822699 single base substitution A C downstream_gene_variant SKCA-BR 16 69822699 69822699 single base substitution A C intron_variant SKCA-BR 16 69823362 69823362 single base substitution A C downstream_gene_variant SKCA-BR 16 69823362 69823362 single base substitution A C intron_variant SKCA-BR 16 69826197 69826197 single base substitution C A downstream_gene_variant SKCA-BR 16 69826197 69826197 single base substitution C A intron_variant SKCA-BR 16 69826474 69826474 single base substitution T C downstream_gene_variant SKCA-BR 16 69826474 69826474 single base substitution T C intron_variant SKCA-BR 16 69829162 69829162 insertion of <=200bp - TAC intron_variant SKCA-BR 16 69829162 69829162 insertion of <=200bp - TAC upstream_gene_variant SKCA-BR 16 69829304 69829304 single base substitution T A intron_variant SKCA-BR 16 69829304 69829304 single base substitution T A upstream_gene_variant SKCA-BR 16 69833956 69833956 single base substitution T G downstream_gene_variant SKCA-BR 16 69833956 69833956 single base substitution T G intron_variant SKCA-BR 16 69834896 69834896 single base substitution C T downstream_gene_variant SKCA-BR 16 69834896 69834896 single base substitution C T intron_variant SKCA-BR 16 69837303 69837303 single base substitution C T downstream_gene_variant SKCA-BR 16 69837303 69837303 single base substitution C T intron_variant SKCA-BR 16 69840485 69840485 single base substitution C T intron_variant SKCA-BR 16 69840486 69840486 single base substitution C T intron_variant SKCA-BR 16 69843314 69843314 single base substitution C T intron_variant SKCA-BR 16 69843417 69843417 single base substitution C T intron_variant SKCA-BR 16 69844330 69844330 insertion of <=200bp - CT intron_variant SKCA-BR 16 69844660 69844660 insertion of <=200bp - CT intron_variant SKCA-BR 16 69844919 69844919 single base substitution A G intron_variant SKCA-BR 16 69848654 69848654 single base substitution G A intron_variant SKCA-BR 16 69851744 69851744 single base substitution C T intron_variant SKCA-BR 16 69853768 69853768 single base substitution C T intron_variant SKCA-BR 16 69855217 69855217 single base substitution C T intron_variant SKCA-BR 16 69855623 69855623 single base substitution C T intron_variant SKCA-BR 16 69855627 69855629 deletion of <=200bp CTT - intron_variant SKCA-BR 16 69858514 69858514 single base substitution T C intron_variant SKCA-BR 16 69858626 69858626 single base substitution G A intron_variant SKCA-BR 16 69860547 69860547 single base substitution C T intron_variant SKCA-BR 16 69860859 69860859 single base substitution G A intron_variant SKCA-BR 16 69860860 69860860 single base substitution G C intron_variant SKCA-BR 16 69864258 69864258 single base substitution T C intron_variant SKCA-BR 16 69866491 69866491 single base substitution C T intron_variant SKCA-BR 16 69867076 69867076 single base substitution G A intron_variant SKCA-BR 16 69869706 69869706 insertion of <=200bp - AT intron_variant SKCA-BR 16 69869706 69869706 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 16 69872348 69872350 deletion of <=200bp TAA - intron_variant SKCA-BR 16 69872348 69872350 deletion of <=200bp TAA - upstream_gene_variant SKCA-BR 16 69877927 69877927 single base substitution G A downstream_gene_variant SKCA-BR 16 69877927 69877927 single base substitution G A intron_variant SKCA-BR 16 69879812 69879812 insertion of <=200bp - GC intron_variant SKCA-BR 16 69884682 69884682 single base substitution C T intron_variant SKCA-BR 16 69884929 69884929 insertion of <=200bp - TTA intron_variant SKCA-BR 16 69885886 69885886 insertion of <=200bp - TAAAACAAAAC intron_variant SKCA-BR 16 69886403 69886403 single base substitution C T intron_variant SKCA-BR 16 69888793 69888793 single base substitution C T intron_variant SKCA-BR 16 69890593 69890593 single base substitution C T intron_variant SKCA-BR 16 69890594 69890594 single base substitution T G intron_variant SKCA-BR 16 69893772 69893772 single base substitution A C intron_variant SKCA-BR 16 69896754 69896754 single base substitution G A intron_variant SKCA-BR 16 69897469 69897469 single base substitution T G intron_variant SKCA-BR 16 69898766 69898766 single base substitution C T intron_variant SKCA-BR 16 69905808 69905808 single base substitution G A downstream_gene_variant SKCA-BR 16 69905808 69905808 single base substitution G A exon_variant SKCA-BR 16 69905808 69905808 single base substitution G A missense_variant G110D 329G>A SKCA-BR 16 69905808 69905808 single base substitution G A missense_variant G226D 677G>A SKCA-BR 16 69907620 69907620 single base substitution A G downstream_gene_variant SKCA-BR 16 69907620 69907620 single base substitution A G intron_variant SKCA-BR 16 69908365 69908365 single base substitution C T downstream_gene_variant SKCA-BR 16 69908365 69908365 single base substitution C T intron_variant SKCA-BR 16 69911079 69911079 single base substitution C T intron_variant SKCA-BR 16 69916017 69916017 single base substitution C T intron_variant SKCA-BR 16 69916351 69916351 single base substitution A G intron_variant SKCA-BR 16 69917627 69917627 single base substitution C T intron_variant SKCA-BR 16 69918329 69918329 single base substitution C T intron_variant SKCA-BR 16 69921959 69921959 single base substitution A C exon_variant SKCA-BR 16 69921959 69921959 single base substitution A C missense_variant T125P 373A>C SKCA-BR 16 69921959 69921959 single base substitution A C missense_variant T241P 721A>C SKCA-BR 16 69921959 69921959 single base substitution A C upstream_gene_variant SKCA-BR 16 69922293 69922293 single base substitution T G downstream_gene_variant SKCA-BR 16 69922293 69922293 single base substitution T G intron_variant SKCA-BR 16 69922293 69922293 single base substitution T G upstream_gene_variant SKCA-BR 16 69926719 69926719 single base substitution G A downstream_gene_variant SKCA-BR 16 69926719 69926719 single base substitution G A intron_variant SKCA-BR 16 69926719 69926719 single base substitution G A upstream_gene_variant SKCA-BR 16 69927084 69927084 single base substitution C T intron_variant SKCA-BR 16 69927084 69927084 single base substitution C T upstream_gene_variant SKCA-BR 16 69928145 69928145 insertion of <=200bp - AT intron_variant SKCA-BR 16 69928145 69928145 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 16 69928145 69928146 deletion of <=200bp AT - intron_variant SKCA-BR 16 69928145 69928146 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 16 69931930 69931930 insertion of <=200bp - CT intron_variant SKCA-BR 16 69935208 69935208 single base substitution G A intron_variant SKCA-BR 16 69935621 69935621 single base substitution C T intron_variant SKCA-BR 16 69936985 69936985 single base substitution C T intron_variant SKCA-BR 16 69938573 69938573 single base substitution C T intron_variant SKCA-BR 16 69946821 69946845 deletion of <=200bp CAAAACAAAAAAAAAAAAAAAAAAA - downstream_gene_variant SKCA-BR 16 69946821 69946845 deletion of <=200bp CAAAACAAAAAAAAAAAAAAAAAAA - intron_variant SKCA-BR 16 69946821 69946845 deletion of <=200bp CAAAACAAAAAAAAAAAAAAAAAAA - upstream_gene_variant SKCA-BR 16 69946822 69946826 deletion of <=200bp AAAAC - downstream_gene_variant SKCA-BR 16 69946822 69946826 deletion of <=200bp AAAAC - intron_variant SKCA-BR 16 69946822 69946826 deletion of <=200bp AAAAC - upstream_gene_variant SKCA-BR 16 69947200 69947200 single base substitution T A downstream_gene_variant SKCA-BR 16 69947200 69947200 single base substitution T A intron_variant SKCA-BR 16 69947200 69947200 single base substitution T A upstream_gene_variant SKCA-BR 16 69947235 69947235 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 16 69947235 69947235 insertion of <=200bp - CA intron_variant SKCA-BR 16 69947235 69947235 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 69950499 69950499 single base substitution A G intron_variant SKCA-BR 16 69950499 69950499 single base substitution A G upstream_gene_variant SKCA-BR 16 69951056 69951056 single base substitution G A intron_variant SKCA-BR 16 69951056 69951056 single base substitution G A upstream_gene_variant SKCA-BR 16 69953042 69953042 single base substitution C T intron_variant SKCA-BR 16 69953073 69953073 single base substitution A T intron_variant SKCA-BR 16 69953098 69953098 single base substitution T C intron_variant SKCA-BR 16 69955323 69955323 single base substitution C T intron_variant SKCA-BR 16 69955323 69955323 single base substitution C T upstream_gene_variant SKCA-BR 16 69957225 69957225 insertion of <=200bp - GGT intron_variant SKCA-BR 16 69957225 69957225 insertion of <=200bp - GGT upstream_gene_variant SKCA-BR 16 69958462 69958462 single base substitution G A intron_variant SKCA-BR 16 69958462 69958462 single base substitution G A upstream_gene_variant SKCA-BR 16 69958555 69958555 single base substitution C T intron_variant SKCA-BR 16 69958555 69958555 single base substitution C T upstream_gene_variant SKCA-BR 16 69958616 69958616 single base substitution A C intron_variant SKCA-BR 16 69958616 69958616 single base substitution A C upstream_gene_variant SKCA-BR 16 69960841 69960841 single base substitution T G downstream_gene_variant SKCA-BR 16 69960841 69960841 single base substitution T G intron_variant SKCA-BR 16 69960841 69960841 single base substitution T G upstream_gene_variant SKCA-BR 16 69960867 69960867 single base substitution C T downstream_gene_variant SKCA-BR 16 69960867 69960867 single base substitution C T intron_variant SKCA-BR 16 69960867 69960867 single base substitution C T upstream_gene_variant SKCA-BR 16 69961032 69961032 single base substitution A T downstream_gene_variant SKCA-BR 16 69961032 69961032 single base substitution A T intron_variant SKCA-BR 16 69961032 69961032 single base substitution A T upstream_gene_variant SKCA-BR 16 69962374 69962374 single base substitution C T downstream_gene_variant SKCA-BR 16 69962374 69962374 single base substitution C T intron_variant SKCA-BR 16 69962374 69962374 single base substitution C T upstream_gene_variant SKCA-BR 16 69965024 69965024 single base substitution A T downstream_gene_variant SKCA-BR 16 69965024 69965024 single base substitution A T intron_variant SKCA-BR 16 69965024 69965024 single base substitution A T upstream_gene_variant SKCA-BR 16 69966706 69966709 deletion of <=200bp AGTT - downstream_gene_variant SKCA-BR 16 69966706 69966709 deletion of <=200bp AGTT - intron_variant SKCA-BR 16 69966706 69966709 deletion of <=200bp AGTT - upstream_gene_variant SKCA-BR 16 69966710 69966710 single base substitution A C downstream_gene_variant SKCA-BR 16 69966710 69966710 single base substitution A C intron_variant SKCA-BR 16 69966710 69966710 single base substitution A C upstream_gene_variant SKCA-BR 16 69966711 69966711 single base substitution A C downstream_gene_variant SKCA-BR 16 69966711 69966711 single base substitution A C intron_variant SKCA-BR 16 69966711 69966711 single base substitution A C upstream_gene_variant SKCA-BR 16 69967070 69967070 single base substitution G A downstream_gene_variant SKCA-BR 16 69967070 69967070 single base substitution G A intron_variant SKCA-BR 16 69967070 69967070 single base substitution G A upstream_gene_variant SKCA-BR 16 69968844 69968844 single base substitution T G downstream_gene_variant SKCA-BR 16 69968844 69968844 single base substitution T G intron_variant SKCA-BR 16 69968844 69968844 single base substitution T G upstream_gene_variant SKCA-BR 16 69968892 69968892 single base substitution G A downstream_gene_variant SKCA-BR 16 69968892 69968892 single base substitution G A intron_variant SKCA-BR 16 69968892 69968892 single base substitution G A upstream_gene_variant SKCA-BR 16 69970548 69970548 single base substitution C T downstream_gene_variant SKCA-BR 16 69970548 69970548 single base substitution C T exon_variant SKCA-BR 16 69970548 69970548 single base substitution C T intron_variant SKCA-BR 16 69970548 69970548 single base substitution C T upstream_gene_variant SKCA-BR 16 69975259 69975259 single base substitution C T 3_prime_UTR_variant SKCA-BR 16 69975259 69975259 single base substitution C T downstream_gene_variant SKCA-BR 16 69976864 69976864 single base substitution T C downstream_gene_variant SKCA-BR 16 69977365 69977365 single base substitution T C downstream_gene_variant SKCA-BR 16 69979272 69979272 single base substitution G A downstream_gene_variant SKCA-BR 16 69980460 69980460 single base substitution C T downstream_gene_variant SKCM-US 16 69832662 69832662 single base substitution C T exon_variant SKCM-US 16 69832662 69832662 single base substitution C T missense_variant P50S 148C>T SKCM-US 16 69832662 69832662 single base substitution C T upstream_gene_variant SKCM-US 16 69874163 69874163 single base substitution G A downstream_gene_variant SKCM-US 16 69874163 69874163 single base substitution G A exon_variant SKCM-US 16 69874163 69874163 single base substitution G A missense_variant D159N 475G>A SKCM-US 16 69874163 69874163 single base substitution G A missense_variant D43N 127G>A SKCM-US 16 69875994 69875994 single base substitution C A downstream_gene_variant SKCM-US 16 69875994 69875994 single base substitution C A exon_variant SKCM-US 16 69875994 69875994 single base substitution C A synonymous_variant P182P 546C>A SKCM-US 16 69875994 69875994 single base substitution C A synonymous_variant P66P 198C>A SKCM-US 16 69922004 69922004 single base substitution C T exon_variant SKCM-US 16 69922004 69922004 single base substitution C T missense_variant P140S 418C>T SKCM-US 16 69922004 69922004 single base substitution C T missense_variant P256S 766C>T SKCM-US 16 69922004 69922004 single base substitution C T upstream_gene_variant SKCM-US 16 69951744 69951744 single base substitution C T exon_variant SKCM-US 16 69951744 69951744 single base substitution C T synonymous_variant L263L 789C>T SKCM-US 16 69951744 69951744 single base substitution C T synonymous_variant L379L 1137C>T SKCM-US 16 69959346 69959346 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 16 69959346 69959346 single base substitution C T exon_variant SKCM-US 16 69959346 69959346 single base substitution C T missense_variant S282L 845C>T SKCM-US 16 69959346 69959346 single base substitution C T missense_variant S398L 1193C>T SKCM-US 16 69959346 69959346 single base substitution C T upstream_gene_variant SKCM-US 16 69965070 69965070 single base substitution C T downstream_gene_variant SKCM-US 16 69965070 69965070 single base substitution C T exon_variant SKCM-US 16 69965070 69965070 single base substitution C T synonymous_variant S371S 1113C>T SKCM-US 16 69965070 69965070 single base substitution C T synonymous_variant S487S 1461C>T SKCM-US 16 69965070 69965070 single base substitution C T synonymous_variant S48S 144C>T SKCM-US 16 69965070 69965070 single base substitution C T upstream_gene_variant SKCM-US 16 69965095 69965095 single base substitution C T downstream_gene_variant SKCM-US 16 69965095 69965095 single base substitution C T exon_variant SKCM-US 16 69965095 69965095 single base substitution C T missense_variant R380W 1138C>T SKCM-US 16 69965095 69965095 single base substitution C T missense_variant R496W 1486C>T SKCM-US 16 69965095 69965095 single base substitution C T missense_variant R57W 169C>T SKCM-US 16 69965095 69965095 single base substitution C T upstream_gene_variant SKCM-US 16 69965107 69965107 single base substitution C T downstream_gene_variant SKCM-US 16 69965107 69965107 single base substitution C T exon_variant SKCM-US 16 69965107 69965107 single base substitution C T missense_variant H384Y 1150C>T SKCM-US 16 69965107 69965107 single base substitution C T missense_variant H500Y 1498C>T SKCM-US 16 69965107 69965107 single base substitution C T missense_variant H61Y 181C>T SKCM-US 16 69965107 69965107 single base substitution C T upstream_gene_variant SKCM-US 16 69965483 69965483 single base substitution G A downstream_gene_variant SKCM-US 16 69965483 69965483 single base substitution G A exon_variant SKCM-US 16 69965483 69965483 single base substitution G A splice_region_variant SKCM-US 16 69965483 69965483 single base substitution G A upstream_gene_variant SKCM-US 16 69965485 69965485 single base substitution T C downstream_gene_variant SKCM-US 16 69965485 69965485 single base substitution T C exon_variant SKCM-US 16 69965485 69965485 single base substitution T C splice_donor_variant SKCM-US 16 69965485 69965485 single base substitution T C upstream_gene_variant SKCM-US 16 69965788 69965788 single base substitution C T downstream_gene_variant SKCM-US 16 69965788 69965788 single base substitution C T exon_variant SKCM-US 16 69965788 69965788 single base substitution C T synonymous_variant I120I 360C>T SKCM-US 16 69965788 69965788 single base substitution C T synonymous_variant I443I 1329C>T SKCM-US 16 69965788 69965788 single base substitution C T synonymous_variant I559I 1677C>T SKCM-US 16 69965788 69965788 single base substitution C T upstream_gene_variant SKCM-US 16 69969797 69969797 single base substitution C T downstream_gene_variant SKCM-US 16 69969797 69969797 single base substitution C T exon_variant SKCM-US 16 69969797 69969797 single base substitution C T synonymous_variant L189L 567C>T SKCM-US 16 69969797 69969797 single base substitution C T synonymous_variant L512L 1536C>T SKCM-US 16 69969797 69969797 single base substitution C T synonymous_variant L628L 1884C>T SKCM-US 16 69969797 69969797 single base substitution C T upstream_gene_variant SKCM-US 16 69969857 69969857 single base substitution C T downstream_gene_variant SKCM-US 16 69969857 69969857 single base substitution C T exon_variant SKCM-US 16 69969857 69969857 single base substitution C T synonymous_variant D209D 627C>T SKCM-US 16 69969857 69969857 single base substitution C T synonymous_variant D532D 1596C>T SKCM-US 16 69969857 69969857 single base substitution C T synonymous_variant D648D 1944C>T SKCM-US 16 69969857 69969857 single base substitution C T upstream_gene_variant SKCM-US 16 69973005 69973005 deletion of <=200bp G - downstream_gene_variant SKCM-US 16 69973005 69973005 deletion of <=200bp G - exon_variant SKCM-US 16 69973005 69973005 deletion of <=200bp G - frameshift_variant G368 SKCM-US 16 69973005 69973005 deletion of <=200bp G - frameshift_variant G691 SKCM-US 16 69973005 69973005 deletion of <=200bp G - frameshift_variant G807 STAD-US 16 69832599 69832599 single base substitution C T exon_variant STAD-US 16 69832599 69832599 single base substitution C T missense_variant P29S 85C>T STAD-US 16 69832599 69832599 single base substitution C T upstream_gene_variant STAD-US 16 69874131 69874131 single base substitution T G downstream_gene_variant STAD-US 16 69874131 69874131 single base substitution T G exon_variant STAD-US 16 69874131 69874131 single base substitution T G missense_variant L148R 443T>G STAD-US 16 69874131 69874131 single base substitution T G missense_variant L32R 95T>G STAD-US 16 69875982 69875982 single base substitution G A downstream_gene_variant STAD-US 16 69875982 69875982 single base substitution G A exon_variant STAD-US 16 69875982 69875982 single base substitution G A synonymous_variant R178R 534G>A STAD-US 16 69875982 69875982 single base substitution G A synonymous_variant R62R 186G>A STAD-US 16 69905707 69905707 single base substitution G T exon_variant STAD-US 16 69905707 69905707 single base substitution G T splice_region_variant STAD-US 16 69922098 69922098 single base substitution C T downstream_gene_variant STAD-US 16 69922098 69922098 single base substitution C T exon_variant STAD-US 16 69922098 69922098 single base substitution C T missense_variant S171L 512C>T STAD-US 16 69922098 69922098 single base substitution C T missense_variant S287L 860C>T STAD-US 16 69922098 69922098 single base substitution C T upstream_gene_variant STAD-US 16 69942692 69942692 single base substitution C T exon_variant STAD-US 16 69942692 69942692 single base substitution C T missense_variant R199C 595C>T STAD-US 16 69942692 69942692 single base substitution C T missense_variant R315C 943C>T STAD-US 16 69942710 69942710 single base substitution C T exon_variant STAD-US 16 69942710 69942710 single base substitution C T missense_variant H205Y 613C>T STAD-US 16 69942710 69942710 single base substitution C T missense_variant H321Y 961C>T STAD-US 16 69959368 69959368 deletion of <=200bp C - 5_prime_UTR_variant STAD-US 16 69959368 69959368 deletion of <=200bp C - exon_variant STAD-US 16 69959368 69959368 deletion of <=200bp C - frameshift_variant G289 STAD-US 16 69959368 69959368 deletion of <=200bp C - frameshift_variant G405 STAD-US 16 69959368 69959368 deletion of <=200bp C - upstream_gene_variant STAD-US 16 69963368 69963368 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 16 69963368 69963368 single base substitution G T downstream_gene_variant STAD-US 16 69963368 69963368 single base substitution G T exon_variant STAD-US 16 69963368 69963368 single base substitution G T stop_gained G302* 904G>T STAD-US 16 69963368 69963368 single base substitution G T stop_gained G418* 1252G>T STAD-US 16 69963368 69963368 single base substitution G T upstream_gene_variant STAD-US 16 69963383 69963383 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 16 69963383 69963383 single base substitution G A downstream_gene_variant STAD-US 16 69963383 69963383 single base substitution G A exon_variant STAD-US 16 69963383 69963383 single base substitution G A missense_variant V307M 919G>A STAD-US 16 69963383 69963383 single base substitution G A missense_variant V423M 1267G>A STAD-US 16 69963383 69963383 single base substitution G A upstream_gene_variant STAD-US 16 69964094 69964094 single base substitution C T downstream_gene_variant STAD-US 16 69964094 69964094 single base substitution C T exon_variant STAD-US 16 69964094 69964094 single base substitution C T stop_gained R21* 61C>T STAD-US 16 69964094 69964094 single base substitution C T stop_gained R344* 1030C>T STAD-US 16 69964094 69964094 single base substitution C T stop_gained R460* 1378C>T STAD-US 16 69964094 69964094 single base substitution C T upstream_gene_variant STAD-US 16 69964118 69964118 single base substitution C T downstream_gene_variant STAD-US 16 69964118 69964118 single base substitution C T exon_variant STAD-US 16 69964118 69964118 single base substitution C T missense_variant R29C 85C>T STAD-US 16 69964118 69964118 single base substitution C T missense_variant R352C 1054C>T STAD-US 16 69964118 69964118 single base substitution C T missense_variant R468C 1402C>T STAD-US 16 69964118 69964118 single base substitution C T upstream_gene_variant STAD-US 16 69965738 69965738 single base substitution C T downstream_gene_variant STAD-US 16 69965738 69965738 single base substitution C T exon_variant STAD-US 16 69965738 69965738 single base substitution C T missense_variant R104W 310C>T STAD-US 16 69965738 69965738 single base substitution C T missense_variant R427W 1279C>T STAD-US 16 69965738 69965738 single base substitution C T missense_variant R543W 1627C>T STAD-US 16 69965738 69965738 single base substitution C T upstream_gene_variant STAD-US 16 69969758 69969758 single base substitution G A downstream_gene_variant STAD-US 16 69969758 69969758 single base substitution G A splice_region_variant STAD-US 16 69969758 69969758 single base substitution G A upstream_gene_variant STAD-US 16 69971539 69971539 single base substitution T A downstream_gene_variant STAD-US 16 69971539 69971539 single base substitution T A exon_variant STAD-US 16 69971539 69971539 single base substitution T A missense_variant I337N 1010T>A STAD-US 16 69971539 69971539 single base substitution T A missense_variant I660N 1979T>A STAD-US 16 69971539 69971539 single base substitution T A missense_variant I776N 2327T>A UCEC-US 16 69832615 69832615 single base substitution G A exon_variant UCEC-US 16 69832615 69832615 single base substitution G A missense_variant R34H 101G>A UCEC-US 16 69832615 69832615 single base substitution G A upstream_gene_variant UCEC-US 16 69833102 69833102 single base substitution G T downstream_gene_variant UCEC-US 16 69833102 69833102 single base substitution G T exon_variant UCEC-US 16 69833102 69833102 single base substitution G T missense_variant D82Y 244G>T UCEC-US 16 69951622 69951622 single base substitution C T exon_variant UCEC-US 16 69951622 69951622 single base substitution C T missense_variant R223C 667C>T UCEC-US 16 69951622 69951622 single base substitution C T missense_variant R339C 1015C>T UCEC-US 16 69963382 69963382 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 16 69963382 69963382 single base substitution C T downstream_gene_variant UCEC-US 16 69963382 69963382 single base substitution C T exon_variant UCEC-US 16 69963382 69963382 single base substitution C T synonymous_variant Y306Y 918C>T UCEC-US 16 69963382 69963382 single base substitution C T synonymous_variant Y422Y 1266C>T UCEC-US 16 69963382 69963382 single base substitution C T upstream_gene_variant UCEC-US 16 69964077 69964077 single base substitution A G downstream_gene_variant UCEC-US 16 69964077 69964077 single base substitution A G exon_variant UCEC-US 16 69964077 69964077 single base substitution A G missense_variant Y15C 44A>G UCEC-US 16 69964077 69964077 single base substitution A G missense_variant Y338C 1013A>G UCEC-US 16 69964077 69964077 single base substitution A G missense_variant Y454C 1361A>G UCEC-US 16 69964077 69964077 single base substitution A G upstream_gene_variant UCEC-US 16 69965095 69965095 single base substitution C T downstream_gene_variant UCEC-US 16 69965095 69965095 single base substitution C T exon_variant UCEC-US 16 69965095 69965095 single base substitution C T missense_variant R380W 1138C>T UCEC-US 16 69965095 69965095 single base substitution C T missense_variant R496W 1486C>T UCEC-US 16 69965095 69965095 single base substitution C T missense_variant R57W 169C>T UCEC-US 16 69965095 69965095 single base substitution C T upstream_gene_variant UCEC-US 16 69965465 69965465 single base substitution C T downstream_gene_variant UCEC-US 16 69965465 69965465 single base substitution C T exon_variant UCEC-US 16 69965465 69965465 single base substitution C T synonymous_variant F409F 1227C>T UCEC-US 16 69965465 69965465 single base substitution C T synonymous_variant F525F 1575C>T UCEC-US 16 69965465 69965465 single base substitution C T synonymous_variant F86F 258C>T UCEC-US 16 69965465 69965465 single base substitution C T upstream_gene_variant UCEC-US 16 69968028 69968028 single base substitution C T downstream_gene_variant UCEC-US 16 69968028 69968028 single base substitution C T exon_variant UCEC-US 16 69968028 69968028 single base substitution C T missense_variant A174V 521C>T UCEC-US 16 69968028 69968028 single base substitution C T missense_variant A497V 1490C>T UCEC-US 16 69968028 69968028 single base substitution C T missense_variant A613V 1838C>T UCEC-US 16 69968028 69968028 single base substitution C T upstream_gene_variant UCEC-US 16 69971461 69971461 single base substitution G T downstream_gene_variant UCEC-US 16 69971461 69971461 single base substitution G T exon_variant UCEC-US 16 69971461 69971461 single base substitution G T missense_variant C311F 932G>T UCEC-US 16 69971461 69971461 single base substitution G T missense_variant C634F 1901G>T UCEC-US 16 69971461 69971461 single base substitution G T missense_variant C750F 2249G>T UCEC-US 16 69973017 69973017 single base substitution G A downstream_gene_variant UCEC-US 16 69973017 69973017 single base substitution G A exon_variant UCEC-US 16 69973017 69973017 single base substitution G A missense_variant E372K 1114G>A UCEC-US 16 69973017 69973017 single base substitution G A missense_variant E695K 2083G>A UCEC-US 16 69973017 69973017 single base substitution G A missense_variant E811K 2431G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D3-A51F-06 COSM3272482 c.1677C>T p.I559I Substitution - coding silent 16:69931885-69931885 + ESCC_74 COSM5634721 c.2134C>T p.R712C Substitution - Missense 16:69937134-69937134 + 112613 COSM96292 c.1947T>C p.P649P Substitution - coding silent 16:69935957-69935957 + TCGA-CG-5723-01 COSM4062286 c.1252G>T p.G418* Substitution - Nonsense 16:69929465-69929465 + TCGA-A2-A0CW-01 COSM435644 c.2258A>T p.Q753L Substitution - Missense 16:69937567-69937567 + 587350 COSM1232887 c.881C>T p.A294V Substitution - Missense 16:69888216-69888216 + TCGA-BR-4362-01 COSM4062291 c.1845G>A p.A615A Substitution - coding silent 16:69935855-69935855 + TCGA-EE-A181-06 COSM3511313 c.148C>T p.P50S Substitution - Missense 16:69798759-69798759 + C086 COSM3272482 c.1677C>T p.I559I Substitution - coding silent 16:69931885-69931885 + B14 COSM1749735 c.824C>A p.P275Q Substitution - Missense 16:69888159-69888159 + S02255 COSM5680542 c.51G>A p.K17K Substitution - coding silent 16:69787061-69787061 + LAU63 COSM233780 c.1882C>T p.L628F Substitution - Missense 16:69935892-69935892 + 1517_PT COSM5754890 c.1118A>G p.Q373R Substitution - Missense 16:69917822-69917822 + TCGA-FW-A3R5-06 COSM3888827 c.1884C>T p.L628L Substitution - coding silent 16:69935894-69935894 + TCGA-DK-A1A7-01 COSM417299 c.1193C>T p.S398L Substitution - Missense 16:69925443-69925443 + DN1401F COSM5960834 c.1993G>C p.E665Q Substitution - Missense 16:69936328-69936328 + CSCC-32-T COSM4493762 c.420C>T p.F140F Substitution - coding silent 16:69840205-69840205 + LAU63 COSM233779 c.1460C>T p.S487F Substitution - Missense 16:69931166-69931166 + TCGA-FD-A3SS-01 COSM3795062 c.1430C>T p.P477L Substitution - Missense 16:69930243-69930243 + CHC892T COSM4794437 c.1142G>A p.G381E Substitution - Missense 16:69917846-69917846 + TCGA-FU-A3HZ-01 COSM4841042 c.1816C>T p.R606C Substitution - Missense 16:69934103-69934103 + T3226 COSM4741558 c.953A>T p.Y318F Substitution - Missense 16:69908799-69908799 + TCGA-EE-A3JD-06 COSM4394997 c.1944C>T p.D648D Substitution - coding silent 16:69935954-69935954 + CCK81 COSM3272498 c.2439C>T p.I813I Substitution - coding silent 16:69939122-69939122 + CHC892T COSM4958835 c.183G>A p.G61G Substitution - coding silent 16:69798794-69798794 + 86507 COSM95540 c.2280G>T p.W760C Substitution - Missense 16:69937589-69937589 + TCGA-BR-4184-01 COSM4062280 c.443T>G p.L148R Substitution - Missense 16:69840228-69840228 + TCGA-AP-A051-01 COSM972945 c.101G>A p.R34H Substitution - Missense 16:69798712-69798712 + TCGA-29-1777-01 COSM1324332 c.1802delA p.H601fs*8 Deletion - Frameshift 16:69934089-69934089 + S01453 COSM316584 c.271T>G p.L91V Substitution - Missense 16:69799226-69799226 + T2197 COSM4741560 c.1255C>T p.R419W Substitution - Missense 16:69929468-69929468 + TCGA-BS-A0UF-01 COSM972953 c.2431G>A p.E811K Substitution - Missense 16:69939114-69939114 + PT37 COSM5921063 c.1594-5C>T p.? Unknown 16:69931797-69931797 + TCGA-AA-A010-01 COSM194745 c.2274C>T p.S758S Substitution - coding silent 16:69937583-69937583 + P01-28 COSM248364 c.2224G>A p.E742K Substitution - Missense 16:69937224-69937224 + CSCC-41-T COSM4481402 c.2505C>T p.S835S Substitution - coding silent 16:69939405-69939405 + HCC017T COSM5814712 c.1316+3A>T p.? Unknown 16:69929532-69929532 + I2L-P19Ta-Tumor-Organoid COSM5363382 c.637G>A p.G213S Substitution - Missense 16:69871865-69871865 + TCGA-12-0707 COSM2154522 c.1396A>G p.N466D Substitution - Missense 16:69930209-69930209 + PD22355a COSM5793668 c.1125G>C p.Q375H Substitution - Missense 16:69917829-69917829 + TCGA-DA-A1I1-06 COSM3511321 c.1593+2T>C p.? Unknown 16:69931582-69931582 + TCGA-EE-A182-06 COSM972950 c.1486C>T p.R496W Substitution - Missense 16:69931192-69931192 + CHC892T COSM4958835 c.183G>A p.G61G Substitution - coding silent 16:69798794-69798794 + HCC2998 COSM3272500 c.2551G>A p.E851K Substitution - Missense 16:69939878-69939878 + TCGA-A8-A06O-01 COSM1232888 c.2071G>A p.G691S Substitution - Missense 16:69936406-69936406 + SM-4AX84 COSM4412820 c.2459A>C p.K820T Substitution - Missense 16:69939359-69939359 + PCSI_0083_Pa_P_526 COSM3787206 c.2070C>T p.G690G Substitution - coding silent 16:69936405-69936405 + CHC1751T COSM4802378 c.2121G>A p.L707L Substitution - coding silent 16:69937121-69937121 + TCGA-ER-A19G-06 COSM3511319 c.1498C>T p.H500Y Substitution - Missense 16:69931204-69931204 + TCGA-AC-A23H-01 COSM3818382 c.1225C>G p.P409A Substitution - Missense 16:69925475-69925475 + TCGA-BR-8487-01 COSM4062282 c.576G>T p.R192R Substitution - coding silent 16:69871804-69871804 + PTC-14C COSM4129250 c.2358G>T p.M786I Substitution - Missense 16:69939041-69939041 + TCGA-C5-A7CL-01 COSM4838009 c.2323C>T p.Q775* Substitution - Nonsense 16:69937632-69937632 + SNUH_G73_S1 COSM4415419 c.2494C>T p.L832L Substitution - coding silent 16:69939394-69939394 + TCGA-HF-7132-01 COSM4062281 c.534G>A p.R178R Substitution - coding silent 16:69842079-69842079 + TCGA-12-0707 COSM2154652 c.1401C>T p.T467T Substitution - coding silent 16:69930214-69930214 + B14-Tumor COSM1749735 c.824C>A p.P275Q Substitution - Missense 16:69888159-69888159 + Pat_41_B COSM3511313 c.148C>T p.P50S Substitution - Missense 16:69798759-69798759 + TCGA-G3-A25Z-01 COSM4922044 c.1623C>T p.R541R Substitution - coding silent 16:69931831-69931831 + TCGA-CZ-5465-01 COSM472018 c.1005C>T p.G335G Substitution - coding silent 16:69917709-69917709 + TCGA-BG-A18B-01 COSM972952 c.2249G>T p.C750F Substitution - Missense 16:69937558-69937558 + TCGA-AG-3581-01 COSM287869 c.579G>A p.T193T Substitution - coding silent 16:69871807-69871807 + TCGA-D1-A103-01 COSM972949 c.1361A>G p.Y454C Substitution - Missense 16:69930174-69930174 + ccRCC-40 COSM1665038 c.2255T>C p.M752T Substitution - Missense 16:69937564-69937564 + TCGA-C5-A1BL-01 COSM4837067 c.427G>A p.G143R Substitution - Missense 16:69840212-69840212 + TCGA-E2-A15D-01 COSM435642 c.1880C>T p.T627I Substitution - Missense 16:69935890-69935890 + HN_0-064 COSM130234 c.649C>T p.R217W Substitution - Missense 16:69871877-69871877 + TCGA-AR-A1AN-01 COSM435637 c.176G>A p.R59H Substitution - Missense 16:69798787-69798787 + TCGA-12-0707 COSM2154379 c.1391A>T p.D464V Substitution - Missense 16:69930204-69930204 + HCT116 COSM1679232 c.1796C>T p.P599L Substitution - Missense 16:69934083-69934083 + TCGA-AX-A0J1-01 COSM972947 c.1015C>T p.R339C Substitution - Missense 16:69917719-69917719 + LS174T COSM4645922 c.2419G>T p.G807W Substitution - Missense 16:69939102-69939102 + TCGA-BR-4201-01 COSM4062289 c.1402C>T p.R468C Substitution - Missense 16:69930215-69930215 + ICGC_MB82 COSM3764566 c.2162C>A p.T721N Substitution - Missense 16:69937162-69937162 + CHC892T COSM4795010 c.218+1G>A p.? Unknown 16:69798830-69798830 + TCGA-EW-A1IZ-01 COSM1479045 c.1670G>T p.G557V Substitution - Missense 16:69931878-69931878 + STC252 COSM5055048 c.1843G>T p.A615S Substitution - Missense 16:69935853-69935853 + TCGA-CD-8529-01 COSM4062279 c.85C>T p.P29S Substitution - Missense 16:69798696-69798696 + CHC892T COSM4795010 c.218+1G>A p.? Unknown 16:69798830-69798830 + OSCC-GB_01080111 COSM4884409 c.1334C>G p.A445G Substitution - Missense 16:69930147-69930147 + Gp2D COSM3272467 c.1174T>C p.Y392H Substitution - Missense 16:69917878-69917878 + T3094 COSM4741561 c.2188G>A p.E730K Substitution - Missense 16:69937188-69937188 + TCGA-BR-8382-01 COSM4062285 c.961C>T p.H321Y Substitution - Missense 16:69908807-69908807 + TCGA-GN-A264-06 COSM3511314 c.475G>A p.D159N Substitution - Missense 16:69840260-69840260 + I2L-P19Ta-Tumor-Biopsy COSM5363382 c.637G>A p.G213S Substitution - Missense 16:69871865-69871865 + NOKSI COSM4596305 c.2548T>A p.Y850N Substitution - Missense 16:69939875-69939875 + 107544 COSM95538 c.427G>C p.G143R Substitution - Missense 16:69840212-69840212 + TCGA-B5-A0JY-01 COSM972953 c.2431G>A p.E811K Substitution - Missense 16:69939114-69939114 + T2944 COSM4741559 c.1140delG p.A382fs*42 Deletion - Frameshift 16:69917844-69917844 + TCGA-BP-4763-01 COSM3361870 c.1779C>A p.P593P Substitution - coding silent 16:69934066-69934066 + TP_2060 COSM5572800 c.2011T>C p.Y671H Substitution - Missense 16:69936346-69936346 + HCT-116 COSM1679232 c.1796C>T p.P599L Substitution - Missense 16:69934083-69934083 + 61 COSM1679232 c.1796C>T p.P599L Substitution - Missense 16:69934083-69934083 + HCT8 COSM4634116 c.2256G>A p.M752I Substitution - Missense 16:69937565-69937565 + TCGA-EE-A2MS-06 COSM3511320 c.1593G>A p.Q531Q Substitution - coding silent 16:69931580-69931580 + TARGET-20-PANZWB-09A-03D COSM5487687 c.1844C>T p.A615V Substitution - Missense 16:69935854-69935854 + TCGA-12-0707 COSM2154453 c.1395C>A p.H465Q Substitution - Missense 16:69930208-69930208 + CSCC-55-T COSM4466265 c.1424C>T p.P475L Substitution - Missense 16:69930237-69930237 + TCGA-CC-A3M9-01 COSM4928543 c.1207C>T p.P403S Substitution - Missense 16:69925457-69925457 + 587368 COSM1232888 c.2071G>A p.G691S Substitution - Missense 16:69936406-69936406 + TCGA-FW-A3R5-06 COSM417299 c.1193C>T p.S398L Substitution - Missense 16:69925443-69925443 + 8015299 COSM1168824 c.124G>A p.V42M Substitution - Missense 16:69798735-69798735 + CRC-6 COSM304460 c.1379G>A p.R460Q Substitution - Missense 16:69930192-69930192 + B14-Tumor COSM1749734 c.799C>T p.P267S Substitution - Missense 16:69888134-69888134 + TCGA-14-0871-01 COSM3402442 c.2600T>C p.F867S Substitution - Missense 16:69939927-69939927 + TCGA-G9-6342-01 COSM3672315 c.294C>A p.T98T Substitution - coding silent 16:69799249-69799249 + TCGA-EP-A26S-01 COSM4913611 c.2513G>C p.C838S Substitution - Missense 16:69939413-69939413 + T2568 COSM4741562 c.2521C>T p.R841C Substitution - Missense 16:69939848-69939848 + WA42 COSM242274 c.157A>T p.T53S Substitution - Missense 16:69798768-69798768 + TCGA-BR-8078-01 COSM4062287 c.1267G>A p.V423M Substitution - Missense 16:69929480-69929480 + TCGA-CG-5723-01 COSM4062284 c.943C>T p.R315C Substitution - Missense 16:69908789-69908789 + Pat_66_A COSM5851337 c.1747G>A p.G583R Substitution - Missense 16:69934034-69934034 + SC_9081 COSM5550811 c.295G>A p.A99T Substitution - Missense 16:69799250-69799250 + Gp5D COSM3272467 c.1174T>C p.Y392H Substitution - Missense 16:69917878-69917878 + LUAD-RT-S01702 COSM379111 c.1185G>A p.S395S Substitution - coding silent 16:69925435-69925435 + ESO-081 COSM1243740 c.621C>T p.T207T Substitution - coding silent 16:69871849-69871849 + sysucc-1397T COSM3272480 c.1625G>A p.R542H Substitution - Missense 16:69931833-69931833 + M030 COSM1740233 c.1864A>T p.I622F Substitution - Missense 16:69935874-69935874 + TCGA-AZ-5407-01 COSM1379261 c.1339C>T p.P447S Substitution - Missense 16:69930152-69930152 + 478 COSM4438939 c.1346G>T p.G449V Substitution - Missense 16:69930159-69930159 + T407 COSM286553 c.1645C>T p.R549C Substitution - Missense 16:69931853-69931853 + 587278 COSM1232886 c.2275G>A p.D759N Substitution - Missense 16:69937584-69937584 + BCM723T COSM4956161 c.1570C>T p.L524F Substitution - Missense 16:69931557-69931557 + ESCC_57 COSM5632317 c.1624C>T p.R542C Substitution - Missense 16:69931832-69931832 + HN_62699 COSM130235 c.721A>C p.T241P Substitution - Missense 16:69888056-69888056 + ESO-122 COSM1270550 c.2416G>A p.V806I Substitution - Missense 16:69939099-69939099 + M14 COSM1679231 c.1559C>T p.S520F Substitution - Missense 16:69931546-69931546 + PD4123a COSM165622 c.258G>C p.W86C Substitution - Missense 16:69799213-69799213 + TCGA-12-0707 COSM2154665 c.1389G>C p.V463V Substitution - coding silent 16:69930202-69930202 + TCGA-BR-4184-01 COSM4062284 c.943C>T p.R315C Substitution - Missense 16:69908789-69908789 + 88018 COSM95690 c.1349G>A p.W450* Substitution - Nonsense 16:69930162-69930162 + PTC-7C COSM4129249 c.1239G>A p.K413K Substitution - coding silent 16:69929452-69929452 + T84 COSM3272446 c.78C>T p.S26S Substitution - coding silent 16:69798689-69798689 + TCGA-DD-A73A-01 COSM4916487 c.2451A>G p.G817G Substitution - coding silent 16:69939351-69939351 + TCGA-AR-A1AQ-01 COSM435645 c.2413delC p.V806fs*48 Deletion - Frameshift 16:69939096-69939096 + HCC061T COSM5805648 c.706A>C p.N236H Substitution - Missense 16:69888041-69888041 + S02255 COSM5680543 c.428G>T p.G143V Substitution - Missense 16:69840213-69840213 + MDA-N COSM1679231 c.1559C>T p.S520F Substitution - Missense 16:69931546-69931546 + TCGA-A5-A0GB-01 COSM972951 c.1838C>T p.A613V Substitution - Missense 16:69934125-69934125 + CSCC-62-T COSM4473961 c.1885C>T p.P629S Substitution - Missense 16:69935895-69935895 + TCGA-F4-6570-01 COSM1379257 c.234G>T p.Q78H Substitution - Missense 16:69799189-69799189 + TCGA-43-3920-01 COSM704349 c.442C>T p.L148L Substitution - coding silent 16:69840227-69840227 + TCGA-34-5231-01 COSM704347 c.2503A>G p.S835G Substitution - Missense 16:69939403-69939403 + TCGA-12-0707 COSM2154524 c.1398T>C p.N466N Substitution - coding silent 16:69930211-69930211 + HCT15 COSM3272493 c.2250C>T p.C750C Substitution - coding silent 16:69937559-69937559 + TCGA-AA-A010-01 COSM286552 c.1171C>A p.L391I Substitution - Missense 16:69917875-69917875 + 587238 COSM1232884 c.2381T>C p.L794P Substitution - Missense 16:69939064-69939064 + T3503 COSM4741557 c.355C>T p.L119L Substitution - coding silent 16:69840140-69840140 + HCC41T COSM1609572 c.1866C>A p.I622I Substitution - coding silent 16:69935876-69935876 + pfg016T COSM1640539 c.227C>T p.T76M Substitution - Missense 16:69799182-69799182 + 1517_PT COSM5754891 c.2418_2419insG p.F809fs*7 Insertion - Frameshift 16:69939101-69939102 + TCGA-AR-A0TS-01 COSM435639 c.831A>C p.T277T Substitution - coding silent 16:69888166-69888166 + TCGA-CG-5721-01 COSM4062292 c.2327T>A p.I776N Substitution - Missense 16:69937636-69937636 + TCGA-B5-A0JY-01 COSM264715 c.1575C>T p.F525F Substitution - coding silent 16:69931562-69931562 + Pat_01_B COSM5851336 c.1184_1185insT p.S396fs*5 Insertion - Frameshift 16:69925434-69925435 + TCGA-HU-8602-01 COSM4062290 c.1627C>T p.R543W Substitution - Missense 16:69931835-69931835 + PT55 COSM5942690 c.1491G>A p.W497* Substitution - Nonsense 16:69931197-69931197 + TCGA-GN-A266-06 COSM3511316 c.766C>T p.P256S Substitution - Missense 16:69888101-69888101 + DLD1 COSM3272493 c.2250C>T p.C750C Substitution - coding silent 16:69937559-69937559 + SC_9062 COSM5554990 c.699C>T p.G233G Substitution - coding silent 16:69871927-69871927 + TCGA-AA-A010-01 COSM286553 c.1645C>T p.R549C Substitution - Missense 16:69931853-69931853 + S01453 COSM316584 c.271T>G p.L91V Substitution - Missense 16:69799226-69799226 + TCGA-D3-A3C7-06 COSM3511317 c.1137C>T p.L379L Substitution - coding silent 16:69917841-69917841 + TCGA-AK-3454-01 COSM3361869 c.1373G>C p.G458A Substitution - Missense 16:69930186-69930186 + tumor_4120193 COSM3927557 c.212T>A p.I71N Substitution - Missense 16:69798823-69798823 + TCGA-12-0707 COSM2154523 c.1397A>T p.N466I Substitution - Missense 16:69930210-69930210 + CHC892T COSM4794437 c.1142G>A p.G381E Substitution - Missense 16:69917846-69917846 + TCGA-B0-4814-01 COSM3361869 c.1373G>C p.G458A Substitution - Missense 16:69930186-69930186 + TCGA-BR-6453-01 COSM4062283 c.860C>T p.S287L Substitution - Missense 16:69888195-69888195 + BCM723T COSM4956161 c.1570C>T p.L524F Substitution - Missense 16:69931557-69931557 + 112557 COSM95539 c.1892A>T p.Y631F Substitution - Missense 16:69935902-69935902 + LUAD-CHTN-Z4716A COSM361852 c.1307G>C p.R436P Substitution - Missense 16:69929520-69929520 + ESCC_74 COSM1379259 c.1122G>A p.S374S Substitution - coding silent 16:69917826-69917826 + TCGA-AD-6889-01 COSM1379258 c.794C>T p.P265L Substitution - Missense 16:69888129-69888129 + HCT8 COSM3272493 c.2250C>T p.C750C Substitution - coding silent 16:69937559-69937559 + MZ7-mel COSM23456 c.2149G>A p.V717M Substitution - Missense 16:69937149-69937149 + TCGA-EE-A184-06 COSM3511315 c.546C>A p.P182P Substitution - coding silent 16:69842091-69842091 + K347 COSM249421 c.2056G>C p.E686Q Substitution - Missense 16:69936391-69936391 + BHY COSM4592017 c.2437A>G p.I813V Substitution - Missense 16:69939120-69939120 + TCGA-AP-A059-01 COSM972948 c.1266C>T p.Y422Y Substitution - coding silent 16:69929479-69929479 + TCGA-BH-A0HF-01 COSM3818381 c.1117C>T p.Q373* Substitution - Nonsense 16:69917821-69917821 + HCC41 COSM1609572 c.1866C>A p.I622I Substitution - coding silent 16:69935876-69935876 + TCGA-EE-A2GR-06 COSM3511318 c.1461C>T p.S487S Substitution - coding silent 16:69931167-69931167 + TCGA-BR-6802-01 COSM4062288 c.1378C>T p.R460* Substitution - Nonsense 16:69930191-69930191 + PTC-10C COSM435647 c.2595G>A p.E865E Substitution - coding silent 16:69939922-69939922 + TCGA-B0-5098-01 COSM1493757 c.100C>T p.R34C Substitution - Missense 16:69798711-69798711 + AOCS-135-8-X COSM4141875 c.2281C>A p.Q761K Substitution - Missense 16:69937590-69937590 + TCGA-AG-A002-01 COSM264715 c.1575C>T p.F525F Substitution - coding silent 16:69931562-69931562 + B14 COSM1749734 c.799C>T p.P267S Substitution - Missense 16:69888134-69888134 + PR-00-1165 COSM248365 c.135G>A p.A45A Substitution - coding silent 16:69798746-69798746 + CSCC-11-T COSM4509792 c.817C>T p.P273S Substitution - Missense 16:69888152-69888152 + TCGA-AC-A23H-01 COSM3818383 c.2226G>C p.E742D Substitution - Missense 16:69937226-69937226 + TCGA-AZ-5407-01 COSM1379260 c.1331C>A p.P444Q Substitution - Missense 16:69930144-69930144 + TCGA-D8-A1J8-01 COSM3818380 c.412A>T p.T138S Substitution - Missense 16:69840197-69840197 + TCGA-BH-A0HP-01 COSM435646 c.2559G>C p.L853L Substitution - coding silent 16:69939886-69939886 + CSCC-55-T COSM4466298 c.1426C>T p.R476C Substitution - Missense 16:69930239-69930239 + AOCS-135-3-1 COSM4141875 c.2281C>A p.Q761K Substitution - Missense 16:69937590-69937590 + ESO-409 COSM1270551 c.1654G>A p.E552K Substitution - Missense 16:69931862-69931862 + 8015299 COSM3771996 c.1468G>T p.A490S Substitution - Missense 16:69931174-69931174 + CPCG0269-F1 COSM4880320 c.470T>A p.L157Q Substitution - Missense 16:69840255-69840255 + TCGA-22-1012-01 COSM704348 c.1579G>T p.D527Y Substitution - Missense 16:69931566-69931566 + PD11750a COSM5786535 c.1621C>T p.R541C Substitution - Missense 16:69931829-69931829 + CSCC-27-T COSM1749734 c.799C>T p.P267S Substitution - Missense 16:69888134-69888134 + TCGA-D1-A103-01 COSM972946 c.244G>T p.D82Y Substitution - Missense 16:69799199-69799199 + C0073T COSM4151382 c.2044G>T p.V682L Substitution - Missense 16:69936379-69936379 + TCGA-12-0707 COSM2154452 c.1393C>A p.H465N Substitution - Missense 16:69930206-69930206 + 587224 COSM1232885 c.989G>A p.R330Q Substitution - Missense 16:69908835-69908835 + CSCC-11-T COSM4554596 c.625G>A p.E209K Substitution - Missense 16:69871853-69871853 + HCT116 COSM3272499 c.2499C>T p.P833P Substitution - coding silent 16:69939399-69939399 + MDA-MB-435 COSM1679231 c.1559C>T p.S520F Substitution - Missense 16:69931546-69931546 + LIM1899 COSM4640072 c.591G>A p.S197S Substitution - coding silent 16:69871819-69871819 + TCGA-12-0707 COSM2154378 c.1390G>C p.D464H Substitution - Missense 16:69930203-69930203 + TCGA-B5-A0JY-01 COSM972950 c.1486C>T p.R496W Substitution - Missense 16:69931192-69931192 + STC291 COSM5055047 c.1817G>A p.R606H Substitution - Missense 16:69934104-69934104 + CHC1751T COSM4802378 c.2121G>A p.L707L Substitution - coding silent 16:69937121-69937121 + YUDON COSM248364 c.2224G>A p.E742K Substitution - Missense 16:69937224-69937224 + YUPAT COSM1709334 c.1217C>T p.P406L Substitution - Missense 16:69925467-69925467 + C0100T COSM4151381 c.1503G>C p.Q501H Substitution - Missense 16:69931209-69931209 + 023T COSM1728044 c.1892A>G p.Y631C Substitution - Missense 16:69935902-69935902 + TCGA-AO-A128-01 COSM972953 c.2431G>A p.E811K Substitution - Missense 16:69939114-69939114 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.408449;Hs.408452;Hs.408453;Hs.408455;Hs.408457;Hs.408458 16q22.1 602308 2483478|CGAP|BC013645|A/T|non-coding||4410|Validated; 2483478|CGAP|BC064531|A/T|non-coding||4462|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1-8939A>C 16 69811975 CLL A C Missense p.T241P c.721A>C 16 69921959 HNSC A C Synonymous p.T277T c.831A>C 16 69922069 BRCA A G Missense p.S835G c.2503A>G 16 69973306 LUSC A T Missense p.Q753L c.2258A>T 16 69971470 BRCA C A Missense p.T721N c.2162C>A 16 69971065 MB C A Synonymous p.P182P c.546C>A 16 69875994 CM C A Synonymous p.P260P c.780C>A 16 69922018 CM C A Synonymous p.P267P c.801C>A 16 69922039 HNSC C A Synonymous p.P299P c.897C>A 16 69922135 LUAD C A Synonymous p.P593P c.1779C>A 16 69967969 RCCC C - Frameshift p.V806Sfs*48 c.2415delC 16 69972999 BRCA C T IntronicSNV . c.1594-60C>T 16 69965645 CM C T IntronicSNV . c.1683-841C>T 16 69967032 HNSC C T IntronicSNV . c.1683-871C>T 16 69967002 BRCA C T Missense p.A613V c.1838C>T 16 69968028 UCEC C T Missense p.H500Y c.1498C>T 16 69965107 CM C T Missense p.L635F c.1903C>T 16 69969816 HNSC C T Missense p.R217W c.649C>T 16 69905780 HNSC C T Missense p.R468C c.1402C>T 16 69964118 STAD C T Missense p.R496W c.1486C>T 16 69965095 CM C T Missense p.S287L c.860C>T 16 69922098 STAD C T Missense p.S398L c.1193C>T 16 69959346 BLCA C T Missense p.T483M c.1448C>T 16 69965057 BRCA C T Missense p.T627I c.1880C>T 16 69969793 BRCA C T Missense p.T76M c.227C>T 16 69833085 STAD C T Nonsense p.Q378* c.1132C>T 16 69951739 CM C T Nonsense p.R460* c.1378C>T 16 69964094 STAD C T Synonymous p.D648D c.1944C>T 16 69969857 CM C T Synonymous p.H514H c.1542C>T 16 69965432 STAD C T Synonymous p.I694I c.2082C>T 16 69970320 LUAD C T Synonymous p.L148L c.442C>T 16 69874130 LUSC C T Synonymous p.L20L c.60C>T 16 69820973 CM C T Synonymous p.L379L c.1137C>T 16 69951744 CM C T Synonymous p.S487S c.1461C>T 16 69965070 CM C T Synonymous p.S528S c.1584C>T 16 69965474 CM G A Missense p.D159N c.475G>A 16 69874163 CM G A Missense p.E247K c.739G>A 16 69921977 CM G A Missense p.E552K c.1654G>A 16 69965765 ESCA G A Missense p.R549H c.1646G>A 16 69965757 HNSC G A Missense p.R59H c.176G>A 16 69832690 BRCA G A Missense p.V250I c.748G>A 16 69921986 BRCA G A Missense p.V806I c.2416G>A 16 69973002 ESCA G A Synonymous p.K584K c.1752G>A 16 69967942 CM G A Synonymous p.Q531Q c.1593G>A 16 69965483 CM G A Synonymous p.T193T c.579G>A 16 69905710 COREAD G C IntronicSNV . c.2513+31G>C 16 69973347 NSCLC G C Missense p.G458A c.1373G>C 16 69964089 RCCC G C Missense p.W86C c.258G>C 16 69833116 BRCA G C Synonymous p.L157L c.471G>C 16 69874159 HNSC G C Synonymous p.L853L c.2559G>C 16 69973789 BRCA G - Frameshift p.G808Dfs*46 c.2423delG 16 69973005 CM G T Missense p.C750F c.2249G>T 16 69971461 UCEC G T Missense p.D527Y c.1579G>T 16 69965469 LUSC G T Missense p.G97V c.290G>T 16 69833148 LUAD G T Missense p.R468L c.1403G>T 16 69964119 LUAD T C Missense p.F867S c.2600T>C 16 69973830 GBM T C SpliceDonorSNV . c.1593+2T>C 16 69965485 CM T G IntronicSNV . c.478+450T>G 16 69874616 CLL T G Missense p.L91V c.271T>G 16 69833129 SCLC TTC - IntronicDeletion . c.340+884_340+886delCTT 16 69834080 CM TTTTTTTTGT - IntronicDeletion . c.71-3014_71-3005delTTTTTTTTGT 16 69829571 CLL