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 23481455 23481455 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr16:23481455C>T c.1482G>A c.(1480-1482)cgG>cgA p.R494R ACC 16 23491135 23491135 + Missense_Mutation SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr16:23491135C>A c.1080G>T c.(1078-1080)caG>caT p.Q360H BLCA 16 23481411 23481411 + Missense_Mutation SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr16:23481411G>A c.1526C>T c.(1525-1527)cCt>cTt p.P509L BLCA 16 23481470 23481470 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr16:23481470G>A c.1467C>T c.(1465-1467)ctC>ctT p.L489L BLCA 16 23491968 23491968 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr16:23491968C>G c.1004G>C c.(1003-1005)aGa>aCa p.R335T BLCA 16 23492071 23492071 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr16:23492071C>T c.901G>A c.(901-903)Gac>Aac p.D301N BLCA 16 23499958 23499958 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr16:23499958G>A c.548C>T c.(547-549)tCc>tTc p.S183F BLCA 16 23503012 23503012 + Missense_Mutation SNP A A C TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr16:23503012A>C c.461T>G c.(460-462)aTg>aGg p.M154R BRCA 16 23478980 23478980 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr16:23478980A>C c.1773T>G c.(1771-1773)ggT>ggG p.G591G BRCA 16 23492053 23492053 + Missense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 g.chr16:23492053C>T c.919G>A c.(919-921)Gtt>Att p.V307I CESC 16 23486311 23486311 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 g.chr16:23486311C>G c.1364G>C c.(1363-1365)tGg>tCg p.W455S CESC 16 23498096 23498096 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr16:23498096G>C c.595C>G c.(595-597)Cta>Gta p.L199V COAD 16 23478955 23478957 + In_Frame_Del DEL CTC CTC - TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr16:23478955_23478957delCTC c.1796_1798delGAG c.(1795-1800)ggagaa>gaa p.G599del COAD 16 23492062 23492062 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr16:23492062T>C c.910A>G c.(910-912)Acc>Gcc p.T304A COAD 16 23492091 23492091 + Splice_Site SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:23492091G>A c.881C>T c.(880-882)gCg>gTg p.A294V COAD 16 23494257 23494257 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr16:23494257G>A c.867C>T c.(865-867)gaC>gaT p.D289D COAD 16 23494291 23494291 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:23494291G>A c.833C>T c.(832-834)aCg>aTg p.T278M COAD 16 23497377 23497377 + Missense_Mutation SNP G G C TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr16:23497377G>C c.757C>G c.(757-759)Cgc>Ggc p.R253G COAD 16 23497386 23497386 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr16:23497386T>C c.748A>G c.(748-750)Agc>Ggc p.S250G COAD 16 23498053 23498053 + Nonsense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:23498053A>C c.638T>G c.(637-639)tTa>tGa p.L213* COAD 16 23503028 23503028 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:23503028G>A c.445C>T c.(445-447)Cga>Tga p.R149* COAD 16 23503120 23503120 + Splice_Site SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:23503120T>C c.353A>G c.(352-354)tAc>tGc p.Y118C COAD 16 23504707 23504707 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:23504707C>T c.325G>A c.(325-327)Gaa>Aaa p.E109K COAD 16 23504780 23504780 + Splice_Site SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr16:23504780C>A c.e4-1 COAD 16 23507062 23507062 + Nonsense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr16:23507062C>T c.129G>A c.(127-129)tgG>tgA p.W43* COADREAD 16 23478955 23478957 + In_Frame_Del DEL CTC CTC - TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr16:23478955_23478957delCTC c.1796_1798delGAG c.(1795-1800)ggagaa>gaa p.G599del COADREAD 16 23481450 23481450 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr16:23481450C>A c.1487G>T c.(1486-1488)gGa>gTa p.G496V COADREAD 16 23492062 23492062 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr16:23492062T>C c.910A>G c.(910-912)Acc>Gcc p.T304A COADREAD 16 23492091 23492091 + Splice_Site SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:23492091G>A c.881C>T c.(880-882)gCg>gTg p.A294V COADREAD 16 23494257 23494257 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr16:23494257G>A c.867C>T c.(865-867)gaC>gaT p.D289D COADREAD 16 23494291 23494291 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:23494291G>A c.833C>T c.(832-834)aCg>aTg p.T278M COADREAD 16 23497377 23497377 + Missense_Mutation SNP G G C TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr16:23497377G>C c.757C>G c.(757-759)Cgc>Ggc p.R253G COADREAD 16 23497386 23497386 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr16:23497386T>C c.748A>G c.(748-750)Agc>Ggc p.S250G COADREAD 16 23498053 23498053 + Nonsense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:23498053A>C c.638T>G c.(637-639)tTa>tGa p.L213* COADREAD 16 23503028 23503028 + Nonsense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:23503028G>A c.445C>T c.(445-447)Cga>Tga p.R149* COADREAD 16 23503120 23503120 + Splice_Site SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:23503120T>C c.353A>G c.(352-354)tAc>tGc p.Y118C COADREAD 16 23504707 23504707 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:23504707C>T c.325G>A c.(325-327)Gaa>Aaa p.E109K COADREAD 16 23504780 23504780 + Splice_Site SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr16:23504780C>A c.e4-1 COADREAD 16 23507062 23507062 + Nonsense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr16:23507062C>T c.129G>A c.(127-129)tgG>tgA p.W43* DLBC 16 23498055 23498055 + Silent SNP C C T TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr16:23498055C>T c.636G>A c.(634-636)cgG>cgA p.R212R DLBC 16 23504719 23504719 + Missense_Mutation SNP G G C TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr16:23504719G>C c.313C>G c.(313-315)Cgt>Ggt p.R105G DLBC 16 23521643 23521643 + Splice_Site SNP G G C TCGA-FF-A7CR-01A-11D-A382-10 TCGA-FF-A7CR-10A-01D-A385-10 g.chr16:23521643G>C c.90C>G c.(88-90)ctC>ctG p.L30L ESCA 16 23497446 23497446 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr16:23497446T>C c.688A>G c.(688-690)Aag>Gag p.K230E GBM 16 23505700 23505700 + Splice_Site SNP C C T TCGA-06-1804-01A-01D-1696-08 TCGA-06-1804-10A-01D-1696-08 g.chr16:23505700C>T c.e3-1 GBMLGG 16 23491094 23491094 + Missense_Mutation SNP G G T TCGA-IK-7675-01A-11D-2086-08 TCGA-IK-7675-10A-01D-2086-08 g.chr16:23491094G>T c.1121C>A c.(1120-1122)gCa>gAa p.A374E GBMLGG 16 23505700 23505700 + Splice_Site SNP C C T TCGA-06-1804-01A-01D-1696-08 TCGA-06-1804-10A-01D-1696-08 g.chr16:23505700C>T c.e3-1 HNSC 16 23480233 23480233 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr16:23480233T>C c.1705A>G c.(1705-1707)Atg>Gtg p.M569V HNSC 16 23491207 23491207 + Splice_Site SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr16:23491207G>C c.1008C>G c.(1006-1008)gtC>gtG p.V336V HNSC 16 23498078 23498078 + Missense_Mutation SNP C C G TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr16:23498078C>G c.613G>C c.(613-615)Gag>Cag p.E205Q HNSC 16 23499976 23499976 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr16:23499976G>A c.530C>T c.(529-531)tCt>tTt p.S177F KIPAN 16 23481417 23481417 + Frame_Shift_Del DEL C C - TCGA-BP-5194-01A-02D-1429-08 TCGA-BP-5194-11A-01D-1429-08 g.chr16:23481417delC c.1520delG c.(1519-1521)ggafs p.G507fs KIPAN 16 23494281 23494281 + Silent SNP C C A TCGA-BP-5191-01A-01D-1429-08 TCGA-BP-5191-11A-01D-1429-08 g.chr16:23494281C>A c.843G>T c.(841-843)cgG>cgT p.R281R KIRC 16 23481417 23481417 + Frame_Shift_Del DEL C C - TCGA-BP-5194-01A-02D-1429-08 TCGA-BP-5194-11A-01D-1429-08 g.chr16:23481417delC c.1520delG c.(1519-1521)ggafs p.G507fs KIRC 16 23494281 23494281 + Silent SNP C C A TCGA-BP-5191-01A-01D-1429-08 TCGA-BP-5191-11A-01D-1429-08 g.chr16:23494281C>A c.843G>T c.(841-843)cgG>cgT p.R281R LGG 16 23491094 23491094 + Missense_Mutation SNP G G T TCGA-IK-7675-01A-11D-2086-08 TCGA-IK-7675-10A-01D-2086-08 g.chr16:23491094G>T c.1121C>A c.(1120-1122)gCa>gAa p.A374E LIHC 16 23481435 23481435 + Missense_Mutation SNP A A G TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr16:23481435A>G c.1502T>C c.(1501-1503)cTc>cCc p.L501P LIHC 16 23486224 23486224 + Splice_Site SNP C C G TCGA-2Y-A9H8-01A-11D-A38X-10 TCGA-2Y-A9H8-10A-01D-A38X-10 g.chr16:23486224C>G c.e14+1 LIHC 16 23489698 23489698 + Missense_Mutation SNP G G T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr16:23489698G>T c.1283C>A c.(1282-1284)cCg>cAg p.P428Q LIHC 16 23489767 23489767 + Missense_Mutation SNP G G A TCGA-DD-A1EA-01A-11D-A12Z-10 TCGA-DD-A1EA-10A-01D-A12Z-10 g.chr16:23489767G>A c.1214C>T c.(1213-1215)cCa>cTa p.P405L LIHC 16 23489767 23489767 + Missense_Mutation SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr16:23489767G>A c.1214C>T c.(1213-1215)cCa>cTa p.P405L LUAD 16 23491168 23491168 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr16:23491168C>A c.1047G>T c.(1045-1047)ctG>ctT p.L349L LUAD 16 23491170 23491170 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr16:23491170G>A c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L LUAD 16 23498078 23498078 + Nonsense_Mutation SNP C C A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr16:23498078C>A c.613G>T c.(613-615)Gag>Tag p.E205* LUSC 16 23497395 23497395 + Missense_Mutation SNP C C G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr16:23497395C>G c.739G>C c.(739-741)Gag>Cag p.E247Q OV 16 23481341 23481341 + Silent SNP G G T TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 g.chr16:23481341G>T c.1596C>A c.(1594-1596)atC>atA p.I532I OV 16 23499997 23499997 + Missense_Mutation SNP T T A TCGA-36-2534-01A-01D-1526-09 TCGA-36-2534-10A-01D-1526-09 g.chr16:23499997T>A c.509A>T c.(508-510)gAt>gTt p.D170V PAAD 16 23480293 23480293 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 g.chr16:23480293C>T c.1645G>A c.(1645-1647)Gca>Aca p.A549T PRAD 16 23491977 23491977 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:23491977G>T c.995C>A c.(994-996)cCt>cAt p.P332H PRAD 16 23497419 23497419 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:23497419G>A c.715C>T c.(715-717)Cga>Tga p.R239* READ 16 23481450 23481450 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr16:23481450C>A c.1487G>T c.(1486-1488)gGa>gTa p.G496V SARC 16 23499974 23499974 + Missense_Mutation SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 g.chr16:23499974G>A c.532C>T c.(532-534)Ccc>Tcc p.P178S SKCM 16 23489718 23489718 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr16:23489718G>A c.1263C>T c.(1261-1263)ctC>ctT p.L421L SKCM 16 23489758 23489758 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr16:23489758C>T c.1223G>A c.(1222-1224)gGt>gAt p.G408D SKCM 16 23489759 23489759 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr16:23489759C>T c.1222G>A c.(1222-1224)Ggt>Agt p.G408S SKCM 16 23489773 23489773 + Missense_Mutation SNP G G A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr16:23489773G>A c.1208C>T c.(1207-1209)aCg>aTg p.T403M SKCM 16 23492068 23492068 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:23492068G>A c.904C>T c.(904-906)Ctc>Ttc p.L302F SKCM 16 23497377 23497377 + Missense_Mutation SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr16:23497377G>A c.757C>T c.(757-759)Cgc>Tgc p.R253C SKCM 16 23497447 23497447 + Silent SNP G G A TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr16:23497447G>A c.687C>T c.(685-687)tcC>tcT p.S229S SKCM 16 23497448 23497448 + Missense_Mutation SNP G G A TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr16:23497448G>A c.686C>T c.(685-687)tCc>tTc p.S229F SKCM 16 23499999 23499999 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr16:23499999C>T c.507G>A c.(505-507)gtG>gtA p.V169V SKCM 16 23504719 23504719 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr16:23504719G>A c.313C>T c.(313-315)Cgt>Tgt p.R105C SKCM 16 23504758 23504758 + Missense_Mutation SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr16:23504758G>A c.274C>T c.(274-276)Cac>Tac p.H92Y SKCM 16 23505681 23505681 + Missense_Mutation SNP C C G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr16:23505681C>G c.195G>C c.(193-195)tgG>tgC p.W65C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 16 23481460 23481460 single base substitution C T downstream_gene_variant ALL-US 16 23481460 23481460 single base substitution C T intron_variant ALL-US 16 23481460 23481460 single base substitution C T missense_variant D493N 1477G>A ALL-US 16 23481460 23481460 single base substitution C T upstream_gene_variant BLCA-CN 16 23491971 23491971 single base substitution G C intron_variant BLCA-CN 16 23491971 23491971 single base substitution G C missense_variant S334C 1001C>G BLCA-CN 16 23491971 23491971 single base substitution G C upstream_gene_variant BLCA-US 16 23491968 23491968 single base substitution C G intron_variant BLCA-US 16 23491968 23491968 single base substitution C G missense_variant R335T 1004G>C BLCA-US 16 23491968 23491968 single base substitution C G upstream_gene_variant BLCA-US 16 23492071 23492071 single base substitution C T intron_variant BLCA-US 16 23492071 23492071 single base substitution C T missense_variant D301N 901G>A BLCA-US 16 23492071 23492071 single base substitution C T upstream_gene_variant BOCA-UK 16 23494290 23494290 single base substitution C T downstream_gene_variant BOCA-UK 16 23494290 23494290 single base substitution C T intron_variant BOCA-UK 16 23494290 23494290 single base substitution C T synonymous_variant T278T 834G>A BOCA-UK 16 23494290 23494290 single base substitution C T upstream_gene_variant BRCA-EU 16 23469867 23469867 single base substitution C T downstream_gene_variant BRCA-EU 16 23470088 23470088 single base substitution C G downstream_gene_variant BRCA-EU 16 23470124 23470124 single base substitution T A downstream_gene_variant BRCA-EU 16 23470294 23470294 single base substitution G C downstream_gene_variant BRCA-EU 16 23470614 23470614 single base substitution C G downstream_gene_variant BRCA-EU 16 23470627 23470627 single base substitution C T downstream_gene_variant BRCA-EU 16 23472371 23472371 insertion of <=200bp - A downstream_gene_variant BRCA-EU 16 23473156 23473156 single base substitution C T downstream_gene_variant BRCA-EU 16 23475776 23475776 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 23475776 23475776 single base substitution C T downstream_gene_variant BRCA-EU 16 23476177 23476177 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 23476177 23476177 single base substitution G C downstream_gene_variant BRCA-EU 16 23476738 23476738 single base substitution C A 3_prime_UTR_variant BRCA-EU 16 23476738 23476738 single base substitution C A downstream_gene_variant BRCA-EU 16 23476738 23476738 single base substitution C A intron_variant BRCA-EU 16 23476932 23476932 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 23476932 23476932 single base substitution C T downstream_gene_variant BRCA-EU 16 23476932 23476932 single base substitution C T intron_variant BRCA-EU 16 23478589 23478589 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 23478589 23478589 single base substitution G A exon_variant BRCA-EU 16 23478589 23478589 single base substitution G A intron_variant BRCA-EU 16 23478702 23478702 single base substitution T A 3_prime_UTR_variant BRCA-EU 16 23478702 23478702 single base substitution T A exon_variant BRCA-EU 16 23478702 23478702 single base substitution T A intron_variant BRCA-EU 16 23478946 23478946 single base substitution C G exon_variant BRCA-EU 16 23478946 23478946 single base substitution C G intron_variant BRCA-EU 16 23478946 23478946 single base substitution C G missense_variant D603H 1807G>C BRCA-EU 16 23478946 23478946 single base substitution C G upstream_gene_variant BRCA-EU 16 23479039 23479039 single base substitution G A intron_variant BRCA-EU 16 23479039 23479039 single base substitution G A upstream_gene_variant BRCA-EU 16 23482244 23482244 single base substitution G T downstream_gene_variant BRCA-EU 16 23482244 23482244 single base substitution G T intron_variant BRCA-EU 16 23482244 23482244 single base substitution G T upstream_gene_variant BRCA-EU 16 23482582 23482582 single base substitution A C downstream_gene_variant BRCA-EU 16 23482582 23482582 single base substitution A C intron_variant BRCA-EU 16 23482582 23482582 single base substitution A C upstream_gene_variant BRCA-EU 16 23483240 23483240 single base substitution T A downstream_gene_variant BRCA-EU 16 23483240 23483240 single base substitution T A intron_variant BRCA-EU 16 23483240 23483240 single base substitution T A upstream_gene_variant BRCA-EU 16 23483335 23483335 single base substitution A T downstream_gene_variant BRCA-EU 16 23483335 23483335 single base substitution A T intron_variant BRCA-EU 16 23483335 23483335 single base substitution A T upstream_gene_variant BRCA-EU 16 23484151 23484151 single base substitution C T downstream_gene_variant BRCA-EU 16 23484151 23484151 single base substitution C T intron_variant BRCA-EU 16 23484151 23484151 single base substitution C T upstream_gene_variant BRCA-EU 16 23484159 23484159 single base substitution T G downstream_gene_variant BRCA-EU 16 23484159 23484159 single base substitution T G intron_variant BRCA-EU 16 23484159 23484159 single base substitution T G upstream_gene_variant BRCA-EU 16 23485956 23485956 single base substitution C A downstream_gene_variant BRCA-EU 16 23485956 23485956 single base substitution C A intron_variant BRCA-EU 16 23486065 23486065 single base substitution A T downstream_gene_variant BRCA-EU 16 23486065 23486065 single base substitution A T intron_variant BRCA-EU 16 23487037 23487037 single base substitution C A intron_variant BRCA-EU 16 23488428 23488428 single base substitution A G intron_variant BRCA-EU 16 23492452 23492452 single base substitution C G downstream_gene_variant BRCA-EU 16 23492452 23492452 single base substitution C G intron_variant BRCA-EU 16 23492452 23492452 single base substitution C G upstream_gene_variant BRCA-EU 16 23492638 23492638 single base substitution G A downstream_gene_variant BRCA-EU 16 23492638 23492638 single base substitution G A intron_variant BRCA-EU 16 23492638 23492638 single base substitution G A upstream_gene_variant BRCA-EU 16 23493099 23493099 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 23493099 23493099 deletion of <=200bp A - intron_variant BRCA-EU 16 23493099 23493099 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 23493761 23493761 single base substitution G A downstream_gene_variant BRCA-EU 16 23493761 23493761 single base substitution G A intron_variant BRCA-EU 16 23493761 23493761 single base substitution G A upstream_gene_variant BRCA-EU 16 23494121 23494121 single base substitution A C downstream_gene_variant BRCA-EU 16 23494121 23494121 single base substitution A C intron_variant BRCA-EU 16 23494121 23494121 single base substitution A C upstream_gene_variant BRCA-EU 16 23494275 23494275 single base substitution C T downstream_gene_variant BRCA-EU 16 23494275 23494275 single base substitution C T intron_variant BRCA-EU 16 23494275 23494275 single base substitution C T synonymous_variant A283A 849G>A BRCA-EU 16 23494275 23494275 single base substitution C T upstream_gene_variant BRCA-EU 16 23494848 23494848 single base substitution A G downstream_gene_variant BRCA-EU 16 23494848 23494848 single base substitution A G intron_variant BRCA-EU 16 23494848 23494848 single base substitution A G upstream_gene_variant BRCA-EU 16 23495508 23495508 single base substitution C T downstream_gene_variant BRCA-EU 16 23495508 23495508 single base substitution C T intron_variant BRCA-EU 16 23495508 23495508 single base substitution C T upstream_gene_variant BRCA-EU 16 23495655 23495655 single base substitution C T downstream_gene_variant BRCA-EU 16 23495655 23495655 single base substitution C T intron_variant BRCA-EU 16 23495655 23495655 single base substitution C T upstream_gene_variant BRCA-EU 16 23496403 23496403 single base substitution C T downstream_gene_variant BRCA-EU 16 23496403 23496403 single base substitution C T intron_variant BRCA-EU 16 23496403 23496403 single base substitution C T upstream_gene_variant BRCA-EU 16 23497582 23497582 single base substitution C G downstream_gene_variant BRCA-EU 16 23497582 23497582 single base substitution C G intron_variant BRCA-EU 16 23497702 23497702 single base substitution C A downstream_gene_variant BRCA-EU 16 23497702 23497702 single base substitution C A intron_variant BRCA-EU 16 23498450 23498450 single base substitution G C downstream_gene_variant BRCA-EU 16 23498450 23498450 single base substitution G C intron_variant BRCA-EU 16 23500812 23500812 single base substitution C T downstream_gene_variant BRCA-EU 16 23500812 23500812 single base substitution C T intron_variant BRCA-EU 16 23501258 23501258 single base substitution C G downstream_gene_variant BRCA-EU 16 23501258 23501258 single base substitution C G intron_variant BRCA-EU 16 23502787 23502787 single base substitution C G downstream_gene_variant BRCA-EU 16 23502787 23502787 single base substitution C G intron_variant BRCA-EU 16 23503281 23503281 single base substitution G A downstream_gene_variant BRCA-EU 16 23503281 23503281 single base substitution G A intron_variant BRCA-EU 16 23503385 23503385 single base substitution C G downstream_gene_variant BRCA-EU 16 23503385 23503385 single base substitution C G intron_variant BRCA-EU 16 23505444 23505444 single base substitution C G downstream_gene_variant BRCA-EU 16 23505444 23505444 single base substitution C G exon_variant BRCA-EU 16 23505444 23505444 single base substitution C G intron_variant BRCA-EU 16 23506731 23506731 single base substitution A G exon_variant BRCA-EU 16 23506731 23506731 single base substitution A G intron_variant BRCA-EU 16 23506731 23506731 single base substitution A G upstream_gene_variant BRCA-EU 16 23509808 23509808 single base substitution G A intron_variant BRCA-EU 16 23509808 23509808 single base substitution G A upstream_gene_variant BRCA-EU 16 23512277 23512277 single base substitution C G intron_variant BRCA-EU 16 23512560 23512560 single base substitution G T intron_variant BRCA-EU 16 23515039 23515039 single base substitution C T intron_variant BRCA-EU 16 23518352 23518352 single base substitution C T intron_variant BRCA-EU 16 23518859 23518859 single base substitution G C intron_variant BRCA-EU 16 23518943 23518944 deletion of <=200bp TC - intron_variant BRCA-EU 16 23519504 23519504 single base substitution C T intron_variant BRCA-EU 16 23522101 23522101 single base substitution C T intron_variant BRCA-EU 16 23522101 23522101 single base substitution C T upstream_gene_variant BRCA-EU 16 23522163 23522163 single base substitution G A intron_variant BRCA-EU 16 23522163 23522163 single base substitution G A upstream_gene_variant BRCA-EU 16 23522508 23522508 single base substitution C G intron_variant BRCA-EU 16 23522508 23522508 single base substitution C G upstream_gene_variant BRCA-EU 16 23523109 23523109 single base substitution G C intron_variant BRCA-EU 16 23523109 23523109 single base substitution G C upstream_gene_variant BRCA-EU 16 23523841 23523841 single base substitution A G intron_variant BRCA-EU 16 23523841 23523841 single base substitution A G upstream_gene_variant BRCA-EU 16 23526603 23526603 single base substitution C G intron_variant BRCA-EU 16 23526603 23526603 single base substitution C G upstream_gene_variant BRCA-EU 16 23527067 23527067 single base substitution G A intron_variant BRCA-EU 16 23527276 23527276 single base substitution C T intron_variant BRCA-EU 16 23527427 23527427 single base substitution C G intron_variant BRCA-EU 16 23527528 23527528 single base substitution T A intron_variant BRCA-EU 16 23529550 23529550 single base substitution G T intron_variant BRCA-EU 16 23530200 23530200 single base substitution C A intron_variant BRCA-EU 16 23530959 23530959 single base substitution G T missense_variant L4M 10C>A BRCA-EU 16 23531351 23531351 single base substitution T G intron_variant BRCA-EU 16 23533346 23533346 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 23534166 23534166 single base substitution T C upstream_gene_variant BRCA-EU 16 23535727 23535727 single base substitution C G upstream_gene_variant BRCA-EU 16 23536511 23536511 single base substitution C G upstream_gene_variant BRCA-EU 16 23536948 23536948 single base substitution G C upstream_gene_variant BRCA-EU 16 23537326 23537326 single base substitution A T upstream_gene_variant BRCA-FR 16 23478589 23478589 single base substitution G A 3_prime_UTR_variant BRCA-FR 16 23478589 23478589 single base substitution G A exon_variant BRCA-FR 16 23478589 23478589 single base substitution G A intron_variant BRCA-FR 16 23495508 23495508 single base substitution C T downstream_gene_variant BRCA-FR 16 23495508 23495508 single base substitution C T intron_variant BRCA-FR 16 23495508 23495508 single base substitution C T upstream_gene_variant BRCA-FR 16 23496403 23496403 single base substitution C T downstream_gene_variant BRCA-FR 16 23496403 23496403 single base substitution C T intron_variant BRCA-FR 16 23496403 23496403 single base substitution C T upstream_gene_variant BRCA-FR 16 23500812 23500812 single base substitution C T downstream_gene_variant BRCA-FR 16 23500812 23500812 single base substitution C T intron_variant BRCA-FR 16 23502913 23502913 single base substitution C T downstream_gene_variant BRCA-FR 16 23502913 23502913 single base substitution C T intron_variant BRCA-FR 16 23512277 23512277 single base substitution C G intron_variant BRCA-FR 16 23518352 23518352 single base substitution C T intron_variant BRCA-FR 16 23522101 23522101 single base substitution C T intron_variant BRCA-FR 16 23522101 23522101 single base substitution C T upstream_gene_variant BRCA-FR 16 23536511 23536511 single base substitution C G upstream_gene_variant BRCA-UK 16 23494848 23494848 single base substitution A G downstream_gene_variant BRCA-UK 16 23494848 23494848 single base substitution A G intron_variant BRCA-UK 16 23494848 23494848 single base substitution A G upstream_gene_variant BRCA-UK 16 23504690 23504690 single base substitution C A 3_prime_UTR_variant BRCA-UK 16 23504690 23504690 single base substitution C A downstream_gene_variant BRCA-UK 16 23504690 23504690 single base substitution C A exon_variant BRCA-UK 16 23504690 23504690 single base substitution C A missense_variant L104F 312G>T BRCA-UK 16 23504690 23504690 single base substitution C A missense_variant L114F 342G>T BRCA-US 16 23478980 23478980 single base substitution A C exon_variant BRCA-US 16 23478980 23478980 single base substitution A C intron_variant BRCA-US 16 23478980 23478980 single base substitution A C synonymous_variant G591G 1773T>G BRCA-US 16 23478980 23478980 single base substitution A C upstream_gene_variant BRCA-US 16 23492053 23492053 single base substitution C T intron_variant BRCA-US 16 23492053 23492053 single base substitution C T missense_variant V307I 919G>A BRCA-US 16 23492053 23492053 single base substitution C T upstream_gene_variant BRCA-US 16 23535677 23535677 single base substitution C T upstream_gene_variant BRCA-US 16 23536559 23536559 single base substitution C T upstream_gene_variant BTCA-JP 16 23479160 23479160 single base substitution G A intron_variant BTCA-JP 16 23479160 23479160 single base substitution G A upstream_gene_variant BTCA-JP 16 23486188 23486188 deletion of <=200bp A - downstream_gene_variant BTCA-JP 16 23486188 23486188 deletion of <=200bp A - intron_variant BTCA-JP 16 23486188 23486189 deletion of <=200bp AA - downstream_gene_variant BTCA-JP 16 23486188 23486189 deletion of <=200bp AA - intron_variant BTCA-JP 16 23490345 23490345 single base substitution C T intron_variant BTCA-JP 16 23492030 23492030 single base substitution C A intron_variant BTCA-JP 16 23492030 23492030 single base substitution C A missense_variant M314I 942G>T BTCA-JP 16 23492030 23492030 single base substitution C A upstream_gene_variant BTCA-JP 16 23497590 23497590 single base substitution T A downstream_gene_variant BTCA-JP 16 23497590 23497590 single base substitution T A intron_variant BTCA-JP 16 23502866 23502866 single base substitution A C downstream_gene_variant BTCA-JP 16 23502866 23502866 single base substitution A C intron_variant CESC-US 16 23478641 23478641 single base substitution G A 3_prime_UTR_variant CESC-US 16 23478641 23478641 single base substitution G A exon_variant CESC-US 16 23478641 23478641 single base substitution G A intron_variant CESC-US 16 23478655 23478655 single base substitution C A 3_prime_UTR_variant CESC-US 16 23478655 23478655 single base substitution C A exon_variant CESC-US 16 23478655 23478655 single base substitution C A intron_variant CESC-US 16 23486311 23486311 single base substitution C G exon_variant CESC-US 16 23486311 23486311 single base substitution C G intron_variant CESC-US 16 23486311 23486311 single base substitution C G missense_variant W455S 1364G>C CESC-US 16 23498096 23498096 single base substitution G C downstream_gene_variant CESC-US 16 23498096 23498096 single base substitution G C exon_variant CESC-US 16 23498096 23498096 single base substitution G C missense_variant L199V 595C>G CLLE-ES 16 23470098 23470099 deletion of <=200bp CT - downstream_gene_variant CLLE-ES 16 23480129 23480129 single base substitution T G intron_variant CLLE-ES 16 23480129 23480129 single base substitution T G upstream_gene_variant CLLE-ES 16 23500959 23500959 single base substitution G C downstream_gene_variant CLLE-ES 16 23500959 23500959 single base substitution G C intron_variant CLLE-ES 16 23504343 23504343 single base substitution C A downstream_gene_variant CLLE-ES 16 23504343 23504343 single base substitution C A intron_variant CLLE-ES 16 23520850 23520850 single base substitution C T intron_variant CLLE-ES 16 23521281 23521281 single base substitution C T intron_variant CLLE-ES 16 23536598 23536598 single base substitution C A upstream_gene_variant COAD-US 16 23492062 23492062 single base substitution T C intron_variant COAD-US 16 23492062 23492062 single base substitution T C missense_variant T304A 910A>G COAD-US 16 23492062 23492062 single base substitution T C upstream_gene_variant COAD-US 16 23492091 23492091 single base substitution G A intron_variant COAD-US 16 23492091 23492091 single base substitution G A missense_variant A294V 881C>T COAD-US 16 23492091 23492091 single base substitution G A upstream_gene_variant COAD-US 16 23503120 23503120 single base substitution T C downstream_gene_variant COAD-US 16 23503120 23503120 single base substitution T C missense_variant Y108C 323A>G COAD-US 16 23503120 23503120 single base substitution T C missense_variant Y118C 353A>G COAD-US 16 23503120 23503120 single base substitution T C splice_region_variant COCA-CN 16 23486197 23486197 single base substitution A G downstream_gene_variant COCA-CN 16 23486197 23486197 single base substitution A G intron_variant COCA-CN 16 23505783 23505783 single base substitution T C downstream_gene_variant COCA-CN 16 23505783 23505783 single base substitution T C intron_variant COCA-CN 16 23505783 23505783 single base substitution T C upstream_gene_variant COCA-CN 16 23512646 23512646 single base substitution G T intron_variant COCA-CN 16 23512714 23512714 single base substitution A C intron_variant COCA-CN 16 23533008 23533008 single base substitution G A intron_variant COCA-CN 16 23535825 23535825 single base substitution G T upstream_gene_variant EOPC-DE 16 23479590 23479590 single base substitution T C intron_variant EOPC-DE 16 23479590 23479590 single base substitution T C upstream_gene_variant EOPC-DE 16 23490694 23490694 single base substitution T C intron_variant ESAD-UK 16 23471330 23471330 single base substitution G T downstream_gene_variant ESAD-UK 16 23471622 23471622 deletion of <=200bp T - downstream_gene_variant ESAD-UK 16 23472182 23472182 single base substitution C T downstream_gene_variant ESAD-UK 16 23473154 23473154 single base substitution C T downstream_gene_variant ESAD-UK 16 23475121 23475121 single base substitution T G 3_prime_UTR_variant ESAD-UK 16 23475121 23475121 single base substitution T G downstream_gene_variant ESAD-UK 16 23475127 23475127 single base substitution A G 3_prime_UTR_variant ESAD-UK 16 23475127 23475127 single base substitution A G downstream_gene_variant ESAD-UK 16 23479443 23479443 single base substitution C G intron_variant ESAD-UK 16 23479443 23479443 single base substitution C G upstream_gene_variant ESAD-UK 16 23480253 23480253 single base substitution G A exon_variant ESAD-UK 16 23480253 23480253 single base substitution G A intron_variant ESAD-UK 16 23480253 23480253 single base substitution G A missense_variant P562L 1685C>T ESAD-UK 16 23480253 23480253 single base substitution G A upstream_gene_variant ESAD-UK 16 23483240 23483240 single base substitution T A downstream_gene_variant ESAD-UK 16 23483240 23483240 single base substitution T A intron_variant ESAD-UK 16 23483240 23483240 single base substitution T A upstream_gene_variant ESAD-UK 16 23484055 23484055 single base substitution A T downstream_gene_variant ESAD-UK 16 23484055 23484055 single base substitution A T intron_variant ESAD-UK 16 23484055 23484055 single base substitution A T upstream_gene_variant ESAD-UK 16 23484181 23484181 single base substitution C T downstream_gene_variant ESAD-UK 16 23484181 23484181 single base substitution C T intron_variant ESAD-UK 16 23484181 23484181 single base substitution C T upstream_gene_variant ESAD-UK 16 23485220 23485220 single base substitution A G downstream_gene_variant ESAD-UK 16 23485220 23485220 single base substitution A G intron_variant ESAD-UK 16 23485220 23485220 single base substitution A G upstream_gene_variant ESAD-UK 16 23485288 23485288 single base substitution G T downstream_gene_variant ESAD-UK 16 23485288 23485288 single base substitution G T intron_variant ESAD-UK 16 23485288 23485288 single base substitution G T upstream_gene_variant ESAD-UK 16 23486475 23486476 deletion of <=200bp AC - intron_variant ESAD-UK 16 23491694 23491694 single base substitution C A exon_variant ESAD-UK 16 23491694 23491694 single base substitution C A intron_variant ESAD-UK 16 23491979 23491979 single base substitution G A intron_variant ESAD-UK 16 23491979 23491979 single base substitution G A synonymous_variant I331I 993C>T ESAD-UK 16 23491979 23491979 single base substitution G A upstream_gene_variant ESAD-UK 16 23494029 23494029 single base substitution C G downstream_gene_variant ESAD-UK 16 23494029 23494029 single base substitution C G intron_variant ESAD-UK 16 23494029 23494029 single base substitution C G upstream_gene_variant ESAD-UK 16 23494070 23494070 single base substitution C G downstream_gene_variant ESAD-UK 16 23494070 23494070 single base substitution C G intron_variant ESAD-UK 16 23494070 23494070 single base substitution C G upstream_gene_variant ESAD-UK 16 23494309 23494309 single base substitution C T downstream_gene_variant ESAD-UK 16 23494309 23494309 single base substitution C T intron_variant ESAD-UK 16 23494309 23494309 single base substitution C T missense_variant C272Y 815G>A ESAD-UK 16 23494309 23494309 single base substitution C T upstream_gene_variant ESAD-UK 16 23500010 23500010 single base substitution T A 3_prime_UTR_variant ESAD-UK 16 23500010 23500010 single base substitution T A downstream_gene_variant ESAD-UK 16 23500010 23500010 single base substitution T A exon_variant ESAD-UK 16 23500010 23500010 single base substitution T A stop_gained K166* 496A>T ESAD-UK 16 23500730 23500730 single base substitution A T downstream_gene_variant ESAD-UK 16 23500730 23500730 single base substitution A T intron_variant ESAD-UK 16 23500790 23500790 single base substitution G A downstream_gene_variant ESAD-UK 16 23500790 23500790 single base substitution G A intron_variant ESAD-UK 16 23500911 23500911 single base substitution A C downstream_gene_variant ESAD-UK 16 23500911 23500911 single base substitution A C intron_variant ESAD-UK 16 23502446 23502446 single base substitution G C downstream_gene_variant ESAD-UK 16 23502446 23502446 single base substitution G C intron_variant ESAD-UK 16 23504452 23504452 single base substitution G A downstream_gene_variant ESAD-UK 16 23504452 23504452 single base substitution G A intron_variant ESAD-UK 16 23509302 23509302 single base substitution A T intron_variant ESAD-UK 16 23509302 23509302 single base substitution A T upstream_gene_variant ESAD-UK 16 23510086 23510086 single base substitution G A intron_variant ESAD-UK 16 23510086 23510086 single base substitution G A upstream_gene_variant ESAD-UK 16 23511004 23511004 single base substitution C T intron_variant ESAD-UK 16 23511004 23511004 single base substitution C T upstream_gene_variant ESAD-UK 16 23512185 23512185 deletion of <=200bp T - intron_variant ESAD-UK 16 23515095 23515095 single base substitution G A intron_variant ESAD-UK 16 23516428 23516428 single base substitution G A intron_variant ESAD-UK 16 23518445 23518445 single base substitution G A intron_variant ESAD-UK 16 23518925 23518925 single base substitution G C intron_variant ESAD-UK 16 23523498 23523498 single base substitution C T intron_variant ESAD-UK 16 23523498 23523498 single base substitution C T upstream_gene_variant ESAD-UK 16 23524742 23524742 single base substitution C G intron_variant ESAD-UK 16 23524742 23524742 single base substitution C G upstream_gene_variant ESAD-UK 16 23526442 23526442 single base substitution T G intron_variant ESAD-UK 16 23526442 23526442 single base substitution T G upstream_gene_variant ESAD-UK 16 23526592 23526592 single base substitution C A intron_variant ESAD-UK 16 23526592 23526592 single base substitution C A upstream_gene_variant ESAD-UK 16 23529444 23529444 single base substitution G C intron_variant ESAD-UK 16 23529689 23529689 single base substitution T G intron_variant ESAD-UK 16 23531350 23531350 single base substitution C T intron_variant ESAD-UK 16 23531442 23531442 single base substitution C T intron_variant ESAD-UK 16 23534022 23534022 single base substitution G A upstream_gene_variant ESAD-UK 16 23537652 23537652 single base substitution C G upstream_gene_variant ESAD-UK 16 23538294 23538294 single base substitution T A upstream_gene_variant ESCA-CN 16 23536587 23536587 single base substitution C T upstream_gene_variant GBM-US 16 23505700 23505700 single base substitution C T downstream_gene_variant GBM-US 16 23505700 23505700 single base substitution C T exon_variant GBM-US 16 23505700 23505700 single base substitution C T splice_acceptor_variant KIRC-US 16 23481417 23481417 deletion of <=200bp C - downstream_gene_variant KIRC-US 16 23481417 23481417 deletion of <=200bp C - frameshift_variant G507 KIRC-US 16 23481417 23481417 deletion of <=200bp C - intron_variant KIRC-US 16 23481417 23481417 deletion of <=200bp C - upstream_gene_variant KIRC-US 16 23494281 23494281 single base substitution C A downstream_gene_variant KIRC-US 16 23494281 23494281 single base substitution C A intron_variant KIRC-US 16 23494281 23494281 single base substitution C A synonymous_variant R281R 843G>T KIRC-US 16 23494281 23494281 single base substitution C A upstream_gene_variant LAML-KR 16 23486529 23486529 single base substitution G T intron_variant LGG-US 16 23491094 23491094 single base substitution G T exon_variant LGG-US 16 23491094 23491094 single base substitution G T intron_variant LGG-US 16 23491094 23491094 single base substitution G T missense_variant A374E 1121C>A LICA-FR 16 23484353 23484353 insertion of <=200bp - A downstream_gene_variant LICA-FR 16 23484353 23484353 insertion of <=200bp - A intron_variant LICA-FR 16 23484353 23484353 insertion of <=200bp - A upstream_gene_variant LICA-FR 16 23502628 23502628 deletion of <=200bp A - downstream_gene_variant LICA-FR 16 23502628 23502628 deletion of <=200bp A - intron_variant LICA-FR 16 23526895 23526895 insertion of <=200bp - A intron_variant LICA-FR 16 23527321 23527321 single base substitution A C intron_variant LICA-FR 16 23532950 23532950 single base substitution G A intron_variant LICA-FR 16 23536564 23536564 single base substitution C A upstream_gene_variant LIHC-US 16 23481435 23481435 single base substitution A G downstream_gene_variant LIHC-US 16 23481435 23481435 single base substitution A G intron_variant LIHC-US 16 23481435 23481435 single base substitution A G missense_variant L501P 1502T>C LIHC-US 16 23481435 23481435 single base substitution A G upstream_gene_variant LIHC-US 16 23489767 23489767 single base substitution G A exon_variant LIHC-US 16 23489767 23489767 single base substitution G A intron_variant LIHC-US 16 23489767 23489767 single base substitution G A missense_variant P405L 1214C>T LIHC-US 16 23504772 23504772 single base substitution T C 3_prime_UTR_variant LIHC-US 16 23504772 23504772 single base substitution T C downstream_gene_variant LIHC-US 16 23504772 23504772 single base substitution T C exon_variant LIHC-US 16 23504772 23504772 single base substitution T C missense_variant E108G 323A>G LIHC-US 16 23504772 23504772 single base substitution T C missense_variant E122G 365A>G LIHC-US 16 23504772 23504772 single base substitution T C missense_variant E77G 230A>G LIHC-US 16 23504772 23504772 single base substitution T C missense_variant E87G 260A>G LINC-JP 16 23479029 23479029 single base substitution A G intron_variant LINC-JP 16 23479029 23479029 single base substitution A G upstream_gene_variant LINC-JP 16 23486188 23486188 deletion of <=200bp A - downstream_gene_variant LINC-JP 16 23486188 23486188 deletion of <=200bp A - intron_variant LINC-JP 16 23486320 23486320 single base substitution C A exon_variant LINC-JP 16 23486320 23486320 single base substitution C A intron_variant LINC-JP 16 23486320 23486320 single base substitution C A missense_variant G452V 1355G>T LINC-JP 16 23490319 23490319 single base substitution A G intron_variant LINC-JP 16 23490383 23490383 single base substitution C G intron_variant LINC-JP 16 23497556 23497556 single base substitution T C downstream_gene_variant LINC-JP 16 23497556 23497556 single base substitution T C intron_variant LINC-JP 16 23504452 23504452 single base substitution G A downstream_gene_variant LINC-JP 16 23504452 23504452 single base substitution G A intron_variant LINC-JP 16 23520086 23520086 single base substitution G A intron_variant LINC-JP 16 23521768 23521768 single base substitution T C 5_prime_UTR_variant LINC-JP 16 23521768 23521768 single base substitution T C exon_variant LINC-JP 16 23521768 23521768 single base substitution T C intron_variant LINC-JP 16 23521768 23521768 single base substitution T C upstream_gene_variant LINC-JP 16 23522708 23522708 single base substitution C A intron_variant LINC-JP 16 23522708 23522708 single base substitution C A upstream_gene_variant LINC-JP 16 23522838 23522838 single base substitution A T intron_variant LINC-JP 16 23522838 23522838 single base substitution A T upstream_gene_variant LINC-JP 16 23534775 23534775 single base substitution G C upstream_gene_variant LIRI-JP 16 23471905 23471905 single base substitution C G downstream_gene_variant LIRI-JP 16 23474737 23474737 single base substitution T C downstream_gene_variant LIRI-JP 16 23474891 23474891 single base substitution A C 3_prime_UTR_variant LIRI-JP 16 23474891 23474891 single base substitution A C downstream_gene_variant LIRI-JP 16 23475448 23475448 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 16 23475448 23475448 insertion of <=200bp - T downstream_gene_variant LIRI-JP 16 23478193 23478193 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 23478193 23478193 single base substitution G A exon_variant LIRI-JP 16 23478193 23478193 single base substitution G A intron_variant LIRI-JP 16 23480015 23480015 single base substitution A C intron_variant LIRI-JP 16 23480015 23480015 single base substitution A C upstream_gene_variant LIRI-JP 16 23480016 23480016 single base substitution A C intron_variant LIRI-JP 16 23480016 23480016 single base substitution A C upstream_gene_variant LIRI-JP 16 23480360 23480360 single base substitution C T exon_variant LIRI-JP 16 23480360 23480360 single base substitution C T intron_variant LIRI-JP 16 23480360 23480360 single base substitution C T upstream_gene_variant LIRI-JP 16 23480814 23480814 single base substitution C T exon_variant LIRI-JP 16 23480814 23480814 single base substitution C T intron_variant LIRI-JP 16 23480814 23480814 single base substitution C T upstream_gene_variant LIRI-JP 16 23481198 23481198 single base substitution T C intron_variant LIRI-JP 16 23481198 23481198 single base substitution T C upstream_gene_variant LIRI-JP 16 23481548 23481548 single base substitution T A downstream_gene_variant LIRI-JP 16 23481548 23481548 single base substitution T A intron_variant LIRI-JP 16 23481548 23481548 single base substitution T A upstream_gene_variant LIRI-JP 16 23482179 23482179 single base substitution T A downstream_gene_variant LIRI-JP 16 23482179 23482179 single base substitution T A intron_variant LIRI-JP 16 23482179 23482179 single base substitution T A upstream_gene_variant LIRI-JP 16 23482180 23482180 single base substitution C A downstream_gene_variant LIRI-JP 16 23482180 23482180 single base substitution C A intron_variant LIRI-JP 16 23482180 23482180 single base substitution C A upstream_gene_variant LIRI-JP 16 23484543 23484543 single base substitution A T downstream_gene_variant LIRI-JP 16 23484543 23484543 single base substitution A T intron_variant LIRI-JP 16 23484543 23484543 single base substitution A T upstream_gene_variant LIRI-JP 16 23485279 23485279 single base substitution C T downstream_gene_variant LIRI-JP 16 23485279 23485279 single base substitution C T intron_variant LIRI-JP 16 23485279 23485279 single base substitution C T upstream_gene_variant LIRI-JP 16 23486094 23486094 single base substitution T G downstream_gene_variant LIRI-JP 16 23486094 23486094 single base substitution T G intron_variant LIRI-JP 16 23488014 23488014 single base substitution T C intron_variant LIRI-JP 16 23489840 23489840 single base substitution G T intron_variant LIRI-JP 16 23493563 23493563 single base substitution C T downstream_gene_variant LIRI-JP 16 23493563 23493563 single base substitution C T intron_variant LIRI-JP 16 23493563 23493563 single base substitution C T upstream_gene_variant LIRI-JP 16 23494160 23494160 single base substitution G C downstream_gene_variant LIRI-JP 16 23494160 23494160 single base substitution G C intron_variant LIRI-JP 16 23494160 23494160 single base substitution G C upstream_gene_variant LIRI-JP 16 23494221 23494221 single base substitution A G downstream_gene_variant LIRI-JP 16 23494221 23494221 single base substitution A G intron_variant LIRI-JP 16 23494221 23494221 single base substitution A G upstream_gene_variant LIRI-JP 16 23495305 23495305 single base substitution G A downstream_gene_variant LIRI-JP 16 23495305 23495305 single base substitution G A intron_variant LIRI-JP 16 23495305 23495305 single base substitution G A upstream_gene_variant LIRI-JP 16 23497154 23497154 single base substitution C A downstream_gene_variant LIRI-JP 16 23497154 23497154 single base substitution C A intron_variant LIRI-JP 16 23500640 23500640 single base substitution C G downstream_gene_variant LIRI-JP 16 23500640 23500640 single base substitution C G intron_variant LIRI-JP 16 23500846 23500846 single base substitution C T downstream_gene_variant LIRI-JP 16 23500846 23500846 single base substitution C T intron_variant LIRI-JP 16 23504237 23504237 single base substitution T C downstream_gene_variant LIRI-JP 16 23504237 23504237 single base substitution T C intron_variant LIRI-JP 16 23506423 23506423 single base substitution G C downstream_gene_variant LIRI-JP 16 23506423 23506423 single base substitution G C intron_variant LIRI-JP 16 23506423 23506423 single base substitution G C upstream_gene_variant LIRI-JP 16 23510744 23510744 single base substitution T C intron_variant LIRI-JP 16 23510744 23510744 single base substitution T C upstream_gene_variant LIRI-JP 16 23512270 23512270 single base substitution T A intron_variant LIRI-JP 16 23513208 23513208 single base substitution C A intron_variant LIRI-JP 16 23513395 23513395 single base substitution A C intron_variant LIRI-JP 16 23516223 23516223 single base substitution C T intron_variant LIRI-JP 16 23517980 23517980 single base substitution C A intron_variant LIRI-JP 16 23518366 23518366 single base substitution C A intron_variant LIRI-JP 16 23521073 23521073 single base substitution A G intron_variant LIRI-JP 16 23526728 23526728 single base substitution G A intron_variant LIRI-JP 16 23526728 23526728 single base substitution G A upstream_gene_variant LIRI-JP 16 23526729 23526729 single base substitution C A intron_variant LIRI-JP 16 23526729 23526729 single base substitution C A upstream_gene_variant LIRI-JP 16 23528534 23528534 single base substitution T A intron_variant LIRI-JP 16 23528905 23528905 single base substitution C T intron_variant LIRI-JP 16 23529139 23529139 single base substitution C T intron_variant LIRI-JP 16 23529224 23529224 single base substitution T C intron_variant LIRI-JP 16 23532760 23532760 single base substitution G C intron_variant LIRI-JP 16 23533300 23533300 single base substitution A G 5_prime_UTR_variant LIRI-JP 16 23534366 23534366 single base substitution A G upstream_gene_variant LIRI-JP 16 23534451 23534451 single base substitution C T upstream_gene_variant LIRI-JP 16 23536196 23536196 single base substitution C A upstream_gene_variant LIRI-JP 16 23538028 23538028 single base substitution G T upstream_gene_variant LUSC-CN 16 23533973 23533973 single base substitution G A upstream_gene_variant LUSC-KR 16 23477380 23477380 single base substitution T C 3_prime_UTR_variant LUSC-KR 16 23477380 23477380 single base substitution T C downstream_gene_variant LUSC-KR 16 23477380 23477380 single base substitution T C intron_variant LUSC-KR 16 23482835 23482835 single base substitution T C downstream_gene_variant LUSC-KR 16 23482835 23482835 single base substitution T C intron_variant LUSC-KR 16 23482835 23482835 single base substitution T C upstream_gene_variant LUSC-KR 16 23486154 23486154 single base substitution T G downstream_gene_variant LUSC-KR 16 23486154 23486154 single base substitution T G intron_variant LUSC-KR 16 23492470 23492470 single base substitution C T downstream_gene_variant LUSC-KR 16 23492470 23492470 single base substitution C T intron_variant LUSC-KR 16 23492470 23492470 single base substitution C T upstream_gene_variant LUSC-KR 16 23494486 23494486 single base substitution C A downstream_gene_variant LUSC-KR 16 23494486 23494486 single base substitution C A intron_variant LUSC-KR 16 23494486 23494486 single base substitution C A upstream_gene_variant LUSC-KR 16 23498327 23498327 single base substitution G A downstream_gene_variant LUSC-KR 16 23498327 23498327 single base substitution G A intron_variant LUSC-KR 16 23507546 23507546 single base substitution C G intron_variant LUSC-KR 16 23507546 23507546 single base substitution C G upstream_gene_variant LUSC-KR 16 23508265 23508265 single base substitution G C intron_variant LUSC-KR 16 23508265 23508265 single base substitution G C upstream_gene_variant LUSC-KR 16 23509617 23509617 single base substitution C A intron_variant LUSC-KR 16 23509617 23509617 single base substitution C A upstream_gene_variant LUSC-KR 16 23513051 23513051 single base substitution C T intron_variant LUSC-KR 16 23516209 23516209 single base substitution T C intron_variant LUSC-KR 16 23520034 23520034 single base substitution T A intron_variant LUSC-KR 16 23521542 23521542 single base substitution C T intron_variant LUSC-KR 16 23527778 23527778 single base substitution T A intron_variant LUSC-KR 16 23529500 23529500 single base substitution A G intron_variant LUSC-KR 16 23532585 23532585 single base substitution C G intron_variant LUSC-KR 16 23533340 23533340 single base substitution T G upstream_gene_variant LUSC-KR 16 23533464 23533464 single base substitution G A upstream_gene_variant LUSC-KR 16 23535049 23535049 single base substitution T A upstream_gene_variant LUSC-KR 16 23535172 23535172 single base substitution C G upstream_gene_variant LUSC-US 16 23497395 23497395 single base substitution C G downstream_gene_variant LUSC-US 16 23497395 23497395 single base substitution C G intron_variant LUSC-US 16 23497395 23497395 single base substitution C G missense_variant E247Q 739G>C LUSC-US 16 23535723 23535723 single base substitution C T upstream_gene_variant LUSC-US 16 23535757 23535757 single base substitution C G upstream_gene_variant MALY-DE 16 23470964 23470964 single base substitution T G downstream_gene_variant MALY-DE 16 23471577 23471577 single base substitution T A downstream_gene_variant MALY-DE 16 23471681 23471686 deletion of <=200bp TGGCTC - downstream_gene_variant MALY-DE 16 23471860 23471860 single base substitution C A downstream_gene_variant MALY-DE 16 23477269 23477269 insertion of <=200bp - A 3_prime_UTR_variant MALY-DE 16 23477269 23477269 insertion of <=200bp - A downstream_gene_variant MALY-DE 16 23477269 23477269 insertion of <=200bp - A intron_variant MALY-DE 16 23484663 23484663 insertion of <=200bp - TTC downstream_gene_variant MALY-DE 16 23484663 23484663 insertion of <=200bp - TTC intron_variant MALY-DE 16 23484663 23484663 insertion of <=200bp - TTC upstream_gene_variant MALY-DE 16 23491313 23491313 single base substitution C T intron_variant MALY-DE 16 23496283 23496283 single base substitution A T downstream_gene_variant MALY-DE 16 23496283 23496283 single base substitution A T intron_variant MALY-DE 16 23496283 23496283 single base substitution A T upstream_gene_variant MALY-DE 16 23497879 23497879 single base substitution G A downstream_gene_variant MALY-DE 16 23497879 23497879 single base substitution G A intron_variant MALY-DE 16 23507387 23507387 single base substitution G A intron_variant MALY-DE 16 23507387 23507387 single base substitution G A upstream_gene_variant MALY-DE 16 23512579 23512579 single base substitution G A intron_variant MALY-DE 16 23518346 23518346 insertion of <=200bp - C intron_variant MALY-DE 16 23519392 23519392 single base substitution T C intron_variant MALY-DE 16 23519777 23519777 single base substitution A T intron_variant MALY-DE 16 23519782 23519782 single base substitution A G intron_variant MALY-DE 16 23520454 23520454 single base substitution T C intron_variant MALY-DE 16 23520854 23520854 single base substitution G C intron_variant MALY-DE 16 23520856 23520856 single base substitution G T intron_variant MALY-DE 16 23520991 23520991 single base substitution A T intron_variant MALY-DE 16 23522147 23522147 single base substitution T G intron_variant MALY-DE 16 23522147 23522147 single base substitution T G upstream_gene_variant MALY-DE 16 23530696 23530696 single base substitution A C intron_variant MALY-DE 16 23531923 23531923 single base substitution A G intron_variant MELA-AU 16 23470004 23470004 single base substitution G A downstream_gene_variant MELA-AU 16 23470870 23470870 single base substitution C G downstream_gene_variant MELA-AU 16 23470872 23470872 single base substitution C T downstream_gene_variant MELA-AU 16 23476521 23476521 single base substitution G A 3_prime_UTR_variant MELA-AU 16 23476521 23476521 single base substitution G A downstream_gene_variant MELA-AU 16 23476790 23476790 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23476790 23476790 single base substitution C T downstream_gene_variant MELA-AU 16 23476790 23476790 single base substitution C T intron_variant MELA-AU 16 23478523 23478523 single base substitution G A 3_prime_UTR_variant MELA-AU 16 23478523 23478523 single base substitution G A exon_variant MELA-AU 16 23478523 23478523 single base substitution G A intron_variant MELA-AU 16 23478575 23478575 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23478575 23478575 single base substitution C T exon_variant MELA-AU 16 23478575 23478575 single base substitution C T intron_variant MELA-AU 16 23478672 23478672 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23478672 23478672 single base substitution C T exon_variant MELA-AU 16 23478672 23478672 single base substitution C T intron_variant MELA-AU 16 23480389 23480389 single base substitution G A exon_variant MELA-AU 16 23480389 23480389 single base substitution G A intron_variant MELA-AU 16 23480389 23480389 single base substitution G A upstream_gene_variant MELA-AU 16 23480658 23480658 single base substitution G A exon_variant MELA-AU 16 23480658 23480658 single base substitution G A intron_variant MELA-AU 16 23480658 23480658 single base substitution G A upstream_gene_variant MELA-AU 16 23481166 23481166 single base substitution C A intron_variant MELA-AU 16 23481166 23481166 single base substitution C A upstream_gene_variant MELA-AU 16 23481753 23481753 single base substitution G A downstream_gene_variant MELA-AU 16 23481753 23481753 single base substitution G A intron_variant MELA-AU 16 23481753 23481753 single base substitution G A upstream_gene_variant MELA-AU 16 23483157 23483157 single base substitution G A downstream_gene_variant MELA-AU 16 23483157 23483157 single base substitution G A intron_variant MELA-AU 16 23483157 23483157 single base substitution G A upstream_gene_variant MELA-AU 16 23483322 23483322 single base substitution G A downstream_gene_variant MELA-AU 16 23483322 23483322 single base substitution G A intron_variant MELA-AU 16 23483322 23483322 single base substitution G A upstream_gene_variant MELA-AU 16 23483449 23483449 single base substitution G A downstream_gene_variant MELA-AU 16 23483449 23483449 single base substitution G A intron_variant MELA-AU 16 23483449 23483449 single base substitution G A upstream_gene_variant MELA-AU 16 23483555 23483555 single base substitution C T downstream_gene_variant MELA-AU 16 23483555 23483555 single base substitution C T intron_variant MELA-AU 16 23483555 23483555 single base substitution C T upstream_gene_variant MELA-AU 16 23484124 23484124 single base substitution G A downstream_gene_variant MELA-AU 16 23484124 23484124 single base substitution G A intron_variant MELA-AU 16 23484124 23484124 single base substitution G A upstream_gene_variant MELA-AU 16 23484172 23484172 single base substitution G A downstream_gene_variant MELA-AU 16 23484172 23484172 single base substitution G A intron_variant MELA-AU 16 23484172 23484172 single base substitution G A upstream_gene_variant MELA-AU 16 23485048 23485048 single base substitution A T downstream_gene_variant MELA-AU 16 23485048 23485048 single base substitution A T intron_variant MELA-AU 16 23485048 23485048 single base substitution A T upstream_gene_variant MELA-AU 16 23485777 23485777 single base substitution C G downstream_gene_variant MELA-AU 16 23485777 23485777 single base substitution C G intron_variant MELA-AU 16 23485777 23485777 single base substitution C G upstream_gene_variant MELA-AU 16 23486358 23486358 single base substitution G A exon_variant MELA-AU 16 23486358 23486358 single base substitution G A intron_variant MELA-AU 16 23486358 23486358 single base substitution G A synonymous_variant V439V 1317C>T MELA-AU 16 23486670 23486670 single base substitution C A intron_variant MELA-AU 16 23487001 23487001 single base substitution G A intron_variant MELA-AU 16 23487146 23487146 single base substitution G A intron_variant MELA-AU 16 23487468 23487468 single base substitution G A intron_variant MELA-AU 16 23487525 23487525 single base substitution G A intron_variant MELA-AU 16 23488399 23488399 single base substitution A G intron_variant MELA-AU 16 23489758 23489759 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 23489758 23489759 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 23489758 23489759 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G408N 1222GG>AA MELA-AU 16 23489805 23489805 single base substitution G A exon_variant MELA-AU 16 23489805 23489805 single base substitution G A intron_variant MELA-AU 16 23489805 23489805 single base substitution G A synonymous_variant C392C 1176C>T MELA-AU 16 23490192 23490192 single base substitution G A intron_variant MELA-AU 16 23490253 23490253 single base substitution G A intron_variant MELA-AU 16 23490887 23490888 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 16 23491345 23491345 single base substitution C T intron_variant MELA-AU 16 23492056 23492056 single base substitution C T intron_variant MELA-AU 16 23492056 23492056 single base substitution C T missense_variant G306R 916G>A MELA-AU 16 23492056 23492056 single base substitution C T upstream_gene_variant MELA-AU 16 23492805 23492805 single base substitution G A downstream_gene_variant MELA-AU 16 23492805 23492805 single base substitution G A intron_variant MELA-AU 16 23492805 23492805 single base substitution G A upstream_gene_variant MELA-AU 16 23493638 23493638 single base substitution G A downstream_gene_variant MELA-AU 16 23493638 23493638 single base substitution G A intron_variant MELA-AU 16 23493638 23493638 single base substitution G A upstream_gene_variant MELA-AU 16 23494141 23494141 single base substitution C A downstream_gene_variant MELA-AU 16 23494141 23494141 single base substitution C A intron_variant MELA-AU 16 23494141 23494141 single base substitution C A upstream_gene_variant MELA-AU 16 23494925 23494925 single base substitution G A downstream_gene_variant MELA-AU 16 23494925 23494925 single base substitution G A intron_variant MELA-AU 16 23494925 23494925 single base substitution G A upstream_gene_variant MELA-AU 16 23495370 23495370 single base substitution G A downstream_gene_variant MELA-AU 16 23495370 23495370 single base substitution G A intron_variant MELA-AU 16 23495370 23495370 single base substitution G A upstream_gene_variant MELA-AU 16 23495560 23495560 single base substitution C A downstream_gene_variant MELA-AU 16 23495560 23495560 single base substitution C A intron_variant MELA-AU 16 23495560 23495560 single base substitution C A upstream_gene_variant MELA-AU 16 23495634 23495634 single base substitution G A downstream_gene_variant MELA-AU 16 23495634 23495634 single base substitution G A intron_variant MELA-AU 16 23495634 23495634 single base substitution G A upstream_gene_variant MELA-AU 16 23495889 23495889 single base substitution G A downstream_gene_variant MELA-AU 16 23495889 23495889 single base substitution G A intron_variant MELA-AU 16 23495889 23495889 single base substitution G A upstream_gene_variant MELA-AU 16 23496029 23496029 single base substitution G A downstream_gene_variant MELA-AU 16 23496029 23496029 single base substitution G A intron_variant MELA-AU 16 23496029 23496029 single base substitution G A upstream_gene_variant MELA-AU 16 23496864 23496864 single base substitution G A downstream_gene_variant MELA-AU 16 23496864 23496864 single base substitution G A intron_variant MELA-AU 16 23496929 23496929 single base substitution G A downstream_gene_variant MELA-AU 16 23496929 23496929 single base substitution G A intron_variant MELA-AU 16 23497216 23497216 single base substitution G A downstream_gene_variant MELA-AU 16 23497216 23497216 single base substitution G A intron_variant MELA-AU 16 23497880 23497880 single base substitution G T downstream_gene_variant MELA-AU 16 23497880 23497880 single base substitution G T intron_variant MELA-AU 16 23499133 23499133 single base substitution G A downstream_gene_variant MELA-AU 16 23499133 23499133 single base substitution G A intron_variant MELA-AU 16 23499152 23499152 single base substitution G A downstream_gene_variant MELA-AU 16 23499152 23499152 single base substitution G A intron_variant MELA-AU 16 23499326 23499326 single base substitution G A downstream_gene_variant MELA-AU 16 23499326 23499326 single base substitution G A intron_variant MELA-AU 16 23499815 23499815 single base substitution G A downstream_gene_variant MELA-AU 16 23499815 23499815 single base substitution G A intron_variant MELA-AU 16 23500182 23500182 single base substitution G A downstream_gene_variant MELA-AU 16 23500182 23500182 single base substitution G A intron_variant MELA-AU 16 23500403 23500403 single base substitution G A downstream_gene_variant MELA-AU 16 23500403 23500403 single base substitution G A intron_variant MELA-AU 16 23500929 23500929 single base substitution G A downstream_gene_variant MELA-AU 16 23500929 23500929 single base substitution G A intron_variant MELA-AU 16 23501091 23501091 single base substitution G A downstream_gene_variant MELA-AU 16 23501091 23501091 single base substitution G A intron_variant MELA-AU 16 23501372 23501372 single base substitution C T downstream_gene_variant MELA-AU 16 23501372 23501372 single base substitution C T intron_variant MELA-AU 16 23501389 23501389 single base substitution G A downstream_gene_variant MELA-AU 16 23501389 23501389 single base substitution G A intron_variant MELA-AU 16 23501541 23501541 single base substitution G A downstream_gene_variant MELA-AU 16 23501541 23501541 single base substitution G A intron_variant MELA-AU 16 23501635 23501635 single base substitution G A downstream_gene_variant MELA-AU 16 23501635 23501635 single base substitution G A intron_variant MELA-AU 16 23502498 23502498 single base substitution C A downstream_gene_variant MELA-AU 16 23502498 23502498 single base substitution C A intron_variant MELA-AU 16 23503189 23503189 single base substitution G A downstream_gene_variant MELA-AU 16 23503189 23503189 single base substitution G A intron_variant MELA-AU 16 23503664 23503664 single base substitution G A downstream_gene_variant MELA-AU 16 23503664 23503664 single base substitution G A intron_variant MELA-AU 16 23503820 23503820 single base substitution G A downstream_gene_variant MELA-AU 16 23503820 23503820 single base substitution G A intron_variant MELA-AU 16 23504203 23504205 multiple base substitution (>=2bp and <=200bp) GGA AAG downstream_gene_variant MELA-AU 16 23504203 23504205 multiple base substitution (>=2bp and <=200bp) GGA AAG intron_variant MELA-AU 16 23504474 23504474 single base substitution G A downstream_gene_variant MELA-AU 16 23504474 23504474 single base substitution G A intron_variant MELA-AU 16 23505049 23505049 single base substitution G A downstream_gene_variant MELA-AU 16 23505049 23505049 single base substitution G A exon_variant MELA-AU 16 23505049 23505049 single base substitution G A intron_variant MELA-AU 16 23505410 23505410 single base substitution G A downstream_gene_variant MELA-AU 16 23505410 23505410 single base substitution G A exon_variant MELA-AU 16 23505410 23505410 single base substitution G A intron_variant MELA-AU 16 23505681 23505681 single base substitution C G 3_prime_UTR_variant MELA-AU 16 23505681 23505681 single base substitution C G downstream_gene_variant MELA-AU 16 23505681 23505681 single base substitution C G exon_variant MELA-AU 16 23505681 23505681 single base substitution C G missense_variant W55C 165G>C MELA-AU 16 23505681 23505681 single base substitution C G missense_variant W57C 171G>C MELA-AU 16 23505681 23505681 single base substitution C G missense_variant W65C 195G>C MELA-AU 16 23505703 23505703 single base substitution C T downstream_gene_variant MELA-AU 16 23505703 23505703 single base substitution C T exon_variant MELA-AU 16 23505703 23505703 single base substitution C T intron_variant MELA-AU 16 23505703 23505703 single base substitution C T splice_region_variant MELA-AU 16 23506713 23506713 single base substitution T A exon_variant MELA-AU 16 23506713 23506713 single base substitution T A intron_variant MELA-AU 16 23506713 23506713 single base substitution T A upstream_gene_variant MELA-AU 16 23507611 23507611 single base substitution G A intron_variant MELA-AU 16 23507611 23507611 single base substitution G A upstream_gene_variant MELA-AU 16 23507706 23507706 single base substitution G A intron_variant MELA-AU 16 23507706 23507706 single base substitution G A upstream_gene_variant MELA-AU 16 23507821 23507821 single base substitution C A intron_variant MELA-AU 16 23507821 23507821 single base substitution C A upstream_gene_variant MELA-AU 16 23507993 23507993 single base substitution T C intron_variant MELA-AU 16 23507993 23507993 single base substitution T C upstream_gene_variant MELA-AU 16 23508184 23508184 single base substitution C T intron_variant MELA-AU 16 23508184 23508184 single base substitution C T upstream_gene_variant MELA-AU 16 23508360 23508360 single base substitution C A intron_variant MELA-AU 16 23508360 23508360 single base substitution C A upstream_gene_variant MELA-AU 16 23508592 23508593 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 23508592 23508593 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 23508874 23508875 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 23508874 23508875 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 23509028 23509028 single base substitution C T intron_variant MELA-AU 16 23509028 23509028 single base substitution C T upstream_gene_variant MELA-AU 16 23509170 23509170 single base substitution T C intron_variant MELA-AU 16 23509170 23509170 single base substitution T C upstream_gene_variant MELA-AU 16 23509396 23509396 single base substitution T C intron_variant MELA-AU 16 23509396 23509396 single base substitution T C upstream_gene_variant MELA-AU 16 23509429 23509429 single base substitution C T intron_variant MELA-AU 16 23509429 23509429 single base substitution C T upstream_gene_variant MELA-AU 16 23509740 23509740 insertion of <=200bp - C intron_variant MELA-AU 16 23509740 23509740 insertion of <=200bp - C upstream_gene_variant MELA-AU 16 23510578 23510578 single base substitution G A intron_variant MELA-AU 16 23510578 23510578 single base substitution G A upstream_gene_variant MELA-AU 16 23510708 23510708 single base substitution G A intron_variant MELA-AU 16 23510708 23510708 single base substitution G A upstream_gene_variant MELA-AU 16 23510735 23510735 single base substitution G A intron_variant MELA-AU 16 23510735 23510735 single base substitution G A upstream_gene_variant MELA-AU 16 23511035 23511036 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 23511035 23511036 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 23512180 23512180 single base substitution T G intron_variant MELA-AU 16 23512435 23512435 single base substitution G A intron_variant MELA-AU 16 23512435 23512435 single base substitution G T intron_variant MELA-AU 16 23513655 23513655 single base substitution G A intron_variant MELA-AU 16 23513792 23513792 single base substitution A G intron_variant MELA-AU 16 23514419 23514419 single base substitution G A intron_variant MELA-AU 16 23516218 23516218 single base substitution A C intron_variant MELA-AU 16 23516554 23516554 single base substitution G T intron_variant MELA-AU 16 23516560 23516560 single base substitution G A intron_variant MELA-AU 16 23517230 23517230 single base substitution C T intron_variant MELA-AU 16 23517734 23517734 single base substitution C T intron_variant MELA-AU 16 23517821 23517821 single base substitution G A intron_variant MELA-AU 16 23517918 23517918 single base substitution A C intron_variant MELA-AU 16 23519187 23519187 single base substitution G A intron_variant MELA-AU 16 23520282 23520282 single base substitution G A intron_variant MELA-AU 16 23520723 23520723 single base substitution A G intron_variant MELA-AU 16 23520935 23520935 single base substitution G A intron_variant MELA-AU 16 23521884 23521884 single base substitution C T intron_variant MELA-AU 16 23521884 23521884 single base substitution C T upstream_gene_variant MELA-AU 16 23522138 23522138 single base substitution C T intron_variant MELA-AU 16 23522138 23522138 single base substitution C T upstream_gene_variant MELA-AU 16 23522609 23522609 single base substitution G A intron_variant MELA-AU 16 23522609 23522609 single base substitution G A upstream_gene_variant MELA-AU 16 23523075 23523075 single base substitution G A intron_variant MELA-AU 16 23523075 23523075 single base substitution G A upstream_gene_variant MELA-AU 16 23523809 23523809 single base substitution C T intron_variant MELA-AU 16 23523809 23523809 single base substitution C T upstream_gene_variant MELA-AU 16 23524358 23524358 single base substitution G A intron_variant MELA-AU 16 23524358 23524358 single base substitution G A upstream_gene_variant MELA-AU 16 23524930 23524930 single base substitution C T intron_variant MELA-AU 16 23524930 23524930 single base substitution C T upstream_gene_variant MELA-AU 16 23524940 23524940 single base substitution A T intron_variant MELA-AU 16 23524940 23524940 single base substitution A T upstream_gene_variant MELA-AU 16 23525225 23525225 single base substitution G A intron_variant MELA-AU 16 23525225 23525225 single base substitution G A upstream_gene_variant MELA-AU 16 23525524 23525524 single base substitution T C intron_variant MELA-AU 16 23525524 23525524 single base substitution T C upstream_gene_variant MELA-AU 16 23526156 23526156 single base substitution G A intron_variant MELA-AU 16 23526156 23526156 single base substitution G A upstream_gene_variant MELA-AU 16 23527161 23527161 single base substitution A G intron_variant MELA-AU 16 23527954 23527954 single base substitution T A intron_variant MELA-AU 16 23527981 23527981 single base substitution A T intron_variant MELA-AU 16 23528891 23528891 single base substitution G A intron_variant MELA-AU 16 23529242 23529242 deletion of <=200bp T - intron_variant MELA-AU 16 23529263 23529263 single base substitution G A intron_variant MELA-AU 16 23529328 23529328 single base substitution G A intron_variant MELA-AU 16 23530716 23530716 single base substitution G A intron_variant MELA-AU 16 23530979 23530979 single base substitution G A intron_variant MELA-AU 16 23531026 23531026 single base substitution G A intron_variant MELA-AU 16 23531148 23531148 single base substitution C T intron_variant MELA-AU 16 23531344 23531344 single base substitution G A intron_variant MELA-AU 16 23531550 23531550 single base substitution G A intron_variant MELA-AU 16 23531672 23531672 single base substitution G A intron_variant MELA-AU 16 23532247 23532247 single base substitution G A intron_variant MELA-AU 16 23533250 23533250 single base substitution C T 5_prime_UTR_variant MELA-AU 16 23533895 23533895 single base substitution G A upstream_gene_variant MELA-AU 16 23534140 23534140 single base substitution G C upstream_gene_variant MELA-AU 16 23534547 23534547 single base substitution C T upstream_gene_variant MELA-AU 16 23534638 23534638 single base substitution G A upstream_gene_variant MELA-AU 16 23535243 23535243 single base substitution G A upstream_gene_variant MELA-AU 16 23535410 23535410 single base substitution G A upstream_gene_variant MELA-AU 16 23535483 23535483 single base substitution G A upstream_gene_variant MELA-AU 16 23535605 23535605 single base substitution G A upstream_gene_variant MELA-AU 16 23535664 23535664 single base substitution G A upstream_gene_variant MELA-AU 16 23536579 23536579 single base substitution G A upstream_gene_variant MELA-AU 16 23536795 23536795 single base substitution G T upstream_gene_variant MELA-AU 16 23536877 23536877 single base substitution G A upstream_gene_variant MELA-AU 16 23537122 23537122 single base substitution A G upstream_gene_variant MELA-AU 16 23537201 23537201 single base substitution C T upstream_gene_variant MELA-AU 16 23537249 23537249 single base substitution G A upstream_gene_variant MELA-AU 16 23537497 23537497 single base substitution G A upstream_gene_variant MELA-AU 16 23537896 23537896 single base substitution G A upstream_gene_variant MELA-AU 16 23537919 23537919 single base substitution G A upstream_gene_variant ORCA-IN 16 23470082 23470082 single base substitution G C downstream_gene_variant ORCA-IN 16 23489706 23489706 single base substitution C A exon_variant ORCA-IN 16 23489706 23489706 single base substitution C A intron_variant ORCA-IN 16 23489706 23489706 single base substitution C A missense_variant Q425H 1275G>T ORCA-IN 16 23493495 23493495 single base substitution G A downstream_gene_variant ORCA-IN 16 23493495 23493495 single base substitution G A intron_variant ORCA-IN 16 23493495 23493495 single base substitution G A upstream_gene_variant ORCA-IN 16 23501961 23501961 single base substitution C T downstream_gene_variant ORCA-IN 16 23501961 23501961 single base substitution C T intron_variant ORCA-IN 16 23508897 23508897 single base substitution G A intron_variant ORCA-IN 16 23508897 23508897 single base substitution G A upstream_gene_variant ORCA-IN 16 23526207 23526207 single base substitution C T intron_variant ORCA-IN 16 23526207 23526207 single base substitution C T upstream_gene_variant ORCA-IN 16 23526682 23526682 single base substitution C T intron_variant ORCA-IN 16 23526682 23526682 single base substitution C T upstream_gene_variant OV-AU 16 23470739 23470739 single base substitution G A downstream_gene_variant OV-AU 16 23477180 23477180 single base substitution T C 3_prime_UTR_variant OV-AU 16 23477180 23477180 single base substitution T C downstream_gene_variant OV-AU 16 23477180 23477180 single base substitution T C intron_variant OV-AU 16 23479494 23479494 single base substitution C G intron_variant OV-AU 16 23479494 23479494 single base substitution C G upstream_gene_variant OV-AU 16 23482227 23482227 single base substitution C G downstream_gene_variant OV-AU 16 23482227 23482227 single base substitution C G intron_variant OV-AU 16 23482227 23482227 single base substitution C G upstream_gene_variant OV-AU 16 23495102 23495102 single base substitution G A downstream_gene_variant OV-AU 16 23495102 23495102 single base substitution G A intron_variant OV-AU 16 23495102 23495102 single base substitution G A upstream_gene_variant OV-AU 16 23499324 23499324 single base substitution T A downstream_gene_variant OV-AU 16 23499324 23499324 single base substitution T A intron_variant OV-AU 16 23499520 23499520 single base substitution C T downstream_gene_variant OV-AU 16 23499520 23499520 single base substitution C T intron_variant OV-AU 16 23502565 23502565 single base substitution C G downstream_gene_variant OV-AU 16 23502565 23502565 single base substitution C G intron_variant OV-AU 16 23510912 23510912 single base substitution C G intron_variant OV-AU 16 23510912 23510912 single base substitution C G upstream_gene_variant OV-AU 16 23516934 23516934 single base substitution C T intron_variant OV-AU 16 23517778 23517778 single base substitution C A intron_variant OV-AU 16 23520278 23520278 single base substitution C G intron_variant OV-AU 16 23521841 23521841 single base substitution G C intron_variant OV-AU 16 23521841 23521841 single base substitution G C upstream_gene_variant OV-AU 16 23526234 23526234 single base substitution G A intron_variant OV-AU 16 23526234 23526234 single base substitution G A upstream_gene_variant OV-AU 16 23527322 23527322 single base substitution C T intron_variant OV-AU 16 23530685 23530685 single base substitution C G intron_variant OV-AU 16 23535219 23535219 single base substitution C A upstream_gene_variant OV-AU 16 23536421 23536421 single base substitution T A upstream_gene_variant PACA-AU 16 23470843 23470843 single base substitution C T downstream_gene_variant PACA-AU 16 23472051 23472051 single base substitution A C downstream_gene_variant PACA-AU 16 23481040 23481040 single base substitution T G intron_variant PACA-AU 16 23481040 23481040 single base substitution T G upstream_gene_variant PACA-AU 16 23482069 23482069 insertion of <=200bp - CAAA downstream_gene_variant PACA-AU 16 23482069 23482069 insertion of <=200bp - CAAA intron_variant PACA-AU 16 23482069 23482069 insertion of <=200bp - CAAA upstream_gene_variant PACA-AU 16 23482265 23482265 single base substitution C A downstream_gene_variant PACA-AU 16 23482265 23482265 single base substitution C A intron_variant PACA-AU 16 23482265 23482265 single base substitution C A upstream_gene_variant PACA-AU 16 23485943 23485943 single base substitution T G downstream_gene_variant PACA-AU 16 23485943 23485943 single base substitution T G intron_variant PACA-AU 16 23489161 23489161 single base substitution C A intron_variant PACA-AU 16 23492021 23492021 single base substitution C T intron_variant PACA-AU 16 23492021 23492021 single base substitution C T synonymous_variant R317R 951G>A PACA-AU 16 23492021 23492021 single base substitution C T upstream_gene_variant PACA-AU 16 23499236 23499236 single base substitution C A downstream_gene_variant PACA-AU 16 23499236 23499236 single base substitution C A intron_variant PACA-AU 16 23500181 23500181 single base substitution C T downstream_gene_variant PACA-AU 16 23500181 23500181 single base substitution C T intron_variant PACA-AU 16 23503044 23503044 single base substitution C T 3_prime_UTR_variant PACA-AU 16 23503044 23503044 single base substitution C T downstream_gene_variant PACA-AU 16 23503044 23503044 single base substitution C T exon_variant PACA-AU 16 23503044 23503044 single base substitution C T synonymous_variant P143P 429G>A PACA-AU 16 23504647 23504647 single base substitution G A downstream_gene_variant PACA-AU 16 23504647 23504647 single base substitution G A intron_variant PACA-AU 16 23509302 23509302 single base substitution A T intron_variant PACA-AU 16 23509302 23509302 single base substitution A T upstream_gene_variant PACA-AU 16 23513082 23513082 single base substitution C A intron_variant PACA-AU 16 23515058 23515058 deletion of <=200bp A - intron_variant PACA-AU 16 23515228 23515228 single base substitution C A intron_variant PACA-AU 16 23517981 23517981 single base substitution G A intron_variant PACA-AU 16 23523297 23523297 insertion of <=200bp - CAGCTGTCTA intron_variant PACA-AU 16 23523297 23523297 insertion of <=200bp - CAGCTGTCTA upstream_gene_variant PACA-AU 16 23526712 23526712 deletion of <=200bp G - intron_variant PACA-AU 16 23526712 23526712 deletion of <=200bp G - upstream_gene_variant PACA-AU 16 23527569 23527569 single base substitution G A intron_variant PACA-AU 16 23528802 23528802 single base substitution G A intron_variant PACA-AU 16 23532037 23532037 single base substitution G A intron_variant PACA-AU 16 23535308 23535312 deletion of <=200bp TCTGT - upstream_gene_variant PACA-AU 16 23535809 23535809 insertion of <=200bp - CCTTAAACAG upstream_gene_variant PACA-CA 16 23473155 23473155 single base substitution G A downstream_gene_variant PACA-CA 16 23482465 23482465 single base substitution G A downstream_gene_variant PACA-CA 16 23482465 23482465 single base substitution G A intron_variant PACA-CA 16 23482465 23482465 single base substitution G A upstream_gene_variant PACA-CA 16 23483241 23483241 single base substitution A T downstream_gene_variant PACA-CA 16 23483241 23483241 single base substitution A T intron_variant PACA-CA 16 23483241 23483241 single base substitution A T upstream_gene_variant PACA-CA 16 23486452 23486452 single base substitution T C intron_variant PACA-CA 16 23491664 23491664 single base substitution A G exon_variant PACA-CA 16 23491664 23491664 single base substitution A G intron_variant PACA-CA 16 23494006 23494006 single base substitution A G downstream_gene_variant PACA-CA 16 23494006 23494006 single base substitution A G intron_variant PACA-CA 16 23494006 23494006 single base substitution A G upstream_gene_variant PACA-CA 16 23495176 23495176 single base substitution C G downstream_gene_variant PACA-CA 16 23495176 23495176 single base substitution C G intron_variant PACA-CA 16 23495176 23495176 single base substitution C G upstream_gene_variant PACA-CA 16 23495402 23495402 single base substitution G C downstream_gene_variant PACA-CA 16 23495402 23495402 single base substitution G C intron_variant PACA-CA 16 23495402 23495402 single base substitution G C upstream_gene_variant PACA-CA 16 23500015 23500015 single base substitution T C 3_prime_UTR_variant PACA-CA 16 23500015 23500015 single base substitution T C downstream_gene_variant PACA-CA 16 23500015 23500015 single base substitution T C exon_variant PACA-CA 16 23500015 23500015 single base substitution T C missense_variant D164G 491A>G PACA-CA 16 23501366 23501366 single base substitution G A downstream_gene_variant PACA-CA 16 23501366 23501366 single base substitution G A intron_variant PACA-CA 16 23506693 23506693 deletion of <=200bp T - exon_variant PACA-CA 16 23506693 23506693 deletion of <=200bp T - intron_variant PACA-CA 16 23506693 23506693 deletion of <=200bp T - upstream_gene_variant PACA-CA 16 23507581 23507581 single base substitution G A intron_variant PACA-CA 16 23507581 23507581 single base substitution G A upstream_gene_variant PACA-CA 16 23507684 23507684 single base substitution C G intron_variant PACA-CA 16 23507684 23507684 single base substitution C G upstream_gene_variant PACA-CA 16 23515058 23515058 deletion of <=200bp A - intron_variant PACA-CA 16 23515237 23515237 single base substitution T C intron_variant PACA-CA 16 23518248 23518248 single base substitution C T intron_variant PACA-CA 16 23518959 23518959 single base substitution T A intron_variant PACA-CA 16 23519942 23519942 single base substitution T A intron_variant PACA-CA 16 23521511 23521511 single base substitution G A intron_variant PACA-CA 16 23523646 23523646 single base substitution G A intron_variant PACA-CA 16 23523646 23523646 single base substitution G A upstream_gene_variant PACA-CA 16 23529759 23529759 single base substitution C T intron_variant PACA-CA 16 23531304 23531304 single base substitution A G intron_variant PACA-CA 16 23532752 23532752 single base substitution G C intron_variant PACA-CA 16 23533702 23533702 single base substitution C T upstream_gene_variant PAEN-AU 16 23499726 23499726 single base substitution C T downstream_gene_variant PAEN-AU 16 23499726 23499726 single base substitution C T intron_variant PAEN-IT 16 23485199 23485199 single base substitution A T downstream_gene_variant PAEN-IT 16 23485199 23485199 single base substitution A T intron_variant PAEN-IT 16 23485199 23485199 single base substitution A T upstream_gene_variant PAEN-IT 16 23501083 23501083 single base substitution A G downstream_gene_variant PAEN-IT 16 23501083 23501083 single base substitution A G intron_variant PAEN-IT 16 23501642 23501642 single base substitution A G downstream_gene_variant PAEN-IT 16 23501642 23501642 single base substitution A G intron_variant PBCA-DE 16 23469868 23469868 single base substitution C T downstream_gene_variant PBCA-DE 16 23494853 23494853 single base substitution G T downstream_gene_variant PBCA-DE 16 23494853 23494853 single base substitution G T intron_variant PBCA-DE 16 23494853 23494853 single base substitution G T upstream_gene_variant PBCA-DE 16 23496434 23496434 single base substitution C T downstream_gene_variant PBCA-DE 16 23496434 23496434 single base substitution C T intron_variant PBCA-DE 16 23496434 23496434 single base substitution C T upstream_gene_variant PBCA-DE 16 23501558 23501558 single base substitution T C downstream_gene_variant PBCA-DE 16 23501558 23501558 single base substitution T C intron_variant PBCA-DE 16 23506423 23506423 single base substitution G C downstream_gene_variant PBCA-DE 16 23506423 23506423 single base substitution G C intron_variant PBCA-DE 16 23506423 23506423 single base substitution G C upstream_gene_variant PBCA-DE 16 23513629 23513629 single base substitution G A intron_variant PBCA-DE 16 23518943 23518944 deletion of <=200bp TC - intron_variant PBCA-DE 16 23534806 23534806 insertion of <=200bp - G upstream_gene_variant PBCA-DE 16 23537984 23537984 single base substitution C T upstream_gene_variant PRAD-CA 16 23504356 23504356 single base substitution G T downstream_gene_variant PRAD-CA 16 23504356 23504356 single base substitution G T intron_variant PRAD-CA 16 23509337 23509337 single base substitution C A intron_variant PRAD-CA 16 23509337 23509337 single base substitution C A upstream_gene_variant PRAD-CA 16 23532808 23532808 single base substitution C T intron_variant PRAD-UK 16 23476461 23476461 single base substitution G T 3_prime_UTR_variant PRAD-UK 16 23476461 23476461 single base substitution G T downstream_gene_variant PRAD-UK 16 23487146 23487146 single base substitution G A intron_variant PRAD-UK 16 23489512 23489512 single base substitution C T intron_variant PRAD-UK 16 23492432 23492432 single base substitution G C downstream_gene_variant PRAD-UK 16 23492432 23492432 single base substitution G C intron_variant PRAD-UK 16 23492432 23492432 single base substitution G C upstream_gene_variant PRAD-UK 16 23520785 23520785 single base substitution G C intron_variant PRAD-UK 16 23521735 23521766 deletion of <=200bp CTCCAGCCCCGACGCTGCGGCCGCGGGCGCCA - 5_prime_UTR_variant PRAD-UK 16 23521735 23521766 deletion of <=200bp CTCCAGCCCCGACGCTGCGGCCGCGGGCGCCA - exon_variant PRAD-UK 16 23521735 23521766 deletion of <=200bp CTCCAGCCCCGACGCTGCGGCCGCGGGCGCCA - intron_variant PRAD-UK 16 23521735 23521766 deletion of <=200bp CTCCAGCCCCGACGCTGCGGCCGCGGGCGCCA - upstream_gene_variant PRAD-UK 16 23525622 23525622 single base substitution T G intron_variant PRAD-UK 16 23525622 23525622 single base substitution T G upstream_gene_variant PRAD-UK 16 23533666 23533669 deletion of <=200bp TGAG - upstream_gene_variant PRAD-UK 16 23534226 23534226 single base substitution C T upstream_gene_variant READ-US 16 23481450 23481450 single base substitution C A downstream_gene_variant READ-US 16 23481450 23481450 single base substitution C A intron_variant READ-US 16 23481450 23481450 single base substitution C A missense_variant G496V 1487G>T READ-US 16 23481450 23481450 single base substitution C A upstream_gene_variant READ-US 16 23498109 23498109 single base substitution A G downstream_gene_variant READ-US 16 23498109 23498109 single base substitution A G splice_region_variant RECA-EU 16 23473140 23473140 single base substitution C T downstream_gene_variant RECA-EU 16 23473948 23473948 single base substitution A G downstream_gene_variant RECA-EU 16 23476617 23476617 single base substitution G A 3_prime_UTR_variant RECA-EU 16 23476617 23476617 single base substitution G A downstream_gene_variant RECA-EU 16 23485717 23485717 single base substitution C T downstream_gene_variant RECA-EU 16 23485717 23485717 single base substitution C T intron_variant RECA-EU 16 23485717 23485717 single base substitution C T upstream_gene_variant RECA-EU 16 23492471 23492471 single base substitution G T downstream_gene_variant RECA-EU 16 23492471 23492471 single base substitution G T intron_variant RECA-EU 16 23492471 23492471 single base substitution G T upstream_gene_variant RECA-EU 16 23493514 23493514 single base substitution G A downstream_gene_variant RECA-EU 16 23493514 23493514 single base substitution G A intron_variant RECA-EU 16 23493514 23493514 single base substitution G A upstream_gene_variant RECA-EU 16 23497781 23497781 single base substitution C T downstream_gene_variant RECA-EU 16 23497781 23497781 single base substitution C T intron_variant RECA-EU 16 23513757 23513757 single base substitution A G intron_variant RECA-EU 16 23518269 23518269 single base substitution T C intron_variant RECA-EU 16 23531379 23531379 single base substitution T G intron_variant RECA-EU 16 23537504 23537504 single base substitution G T upstream_gene_variant SKCA-BR 16 23471395 23471395 single base substitution C T downstream_gene_variant SKCA-BR 16 23472086 23472086 single base substitution T C downstream_gene_variant SKCA-BR 16 23472123 23472123 single base substitution C T downstream_gene_variant SKCA-BR 16 23472379 23472380 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 16 23474890 23474890 single base substitution G A 3_prime_UTR_variant SKCA-BR 16 23474890 23474890 single base substitution G A downstream_gene_variant SKCA-BR 16 23475220 23475220 single base substitution C G 3_prime_UTR_variant SKCA-BR 16 23475220 23475220 single base substitution C G downstream_gene_variant SKCA-BR 16 23484018 23484018 single base substitution G C downstream_gene_variant SKCA-BR 16 23484018 23484018 single base substitution G C intron_variant SKCA-BR 16 23484018 23484018 single base substitution G C upstream_gene_variant SKCA-BR 16 23484019 23484019 single base substitution A C downstream_gene_variant SKCA-BR 16 23484019 23484019 single base substitution A C intron_variant SKCA-BR 16 23484019 23484019 single base substitution A C upstream_gene_variant SKCA-BR 16 23498305 23498305 insertion of <=200bp - GTTT downstream_gene_variant SKCA-BR 16 23498305 23498305 insertion of <=200bp - GTTT intron_variant SKCA-BR 16 23501674 23501674 single base substitution T A downstream_gene_variant SKCA-BR 16 23501674 23501674 single base substitution T A intron_variant SKCA-BR 16 23503161 23503161 single base substitution G A downstream_gene_variant SKCA-BR 16 23503161 23503161 single base substitution G A intron_variant SKCA-BR 16 23504021 23504021 single base substitution A C downstream_gene_variant SKCA-BR 16 23504021 23504021 single base substitution A C intron_variant SKCA-BR 16 23510978 23510978 single base substitution T G intron_variant SKCA-BR 16 23510978 23510978 single base substitution T G upstream_gene_variant SKCA-BR 16 23511043 23511043 single base substitution A C intron_variant SKCA-BR 16 23511043 23511043 single base substitution A C upstream_gene_variant SKCA-BR 16 23512383 23512383 single base substitution C T intron_variant SKCA-BR 16 23517004 23517004 single base substitution A C intron_variant SKCA-BR 16 23518038 23518038 single base substitution A C intron_variant SKCA-BR 16 23518479 23518479 single base substitution G A intron_variant SKCA-BR 16 23518897 23518897 single base substitution T C intron_variant SKCA-BR 16 23520759 23520759 single base substitution C T intron_variant SKCA-BR 16 23523933 23523933 single base substitution T A intron_variant SKCA-BR 16 23523933 23523933 single base substitution T A upstream_gene_variant SKCA-BR 16 23529426 23529426 single base substitution A G intron_variant SKCA-BR 16 23533148 23533148 single base substitution C T 5_prime_UTR_variant SKCA-BR 16 23536366 23536366 single base substitution T C upstream_gene_variant SKCM-US 16 23489718 23489718 single base substitution G A exon_variant SKCM-US 16 23489718 23489718 single base substitution G A intron_variant SKCM-US 16 23489718 23489718 single base substitution G A synonymous_variant L421L 1263C>T SKCM-US 16 23489773 23489773 single base substitution G A exon_variant SKCM-US 16 23489773 23489773 single base substitution G A intron_variant SKCM-US 16 23489773 23489773 single base substitution G A missense_variant T403M 1208C>T SKCM-US 16 23492068 23492068 single base substitution G A intron_variant SKCM-US 16 23492068 23492068 single base substitution G A missense_variant L302F 904C>T SKCM-US 16 23492068 23492068 single base substitution G A upstream_gene_variant SKCM-US 16 23497377 23497377 single base substitution G A downstream_gene_variant SKCM-US 16 23497377 23497377 single base substitution G A intron_variant SKCM-US 16 23497377 23497377 single base substitution G A missense_variant R253C 757C>T SKCM-US 16 23499999 23499999 single base substitution C T downstream_gene_variant SKCM-US 16 23499999 23499999 single base substitution C T exon_variant SKCM-US 16 23499999 23499999 single base substitution C T synonymous_variant V169V 507G>A SKCM-US 16 23504719 23504719 single base substitution G A 3_prime_UTR_variant SKCM-US 16 23504719 23504719 single base substitution G A downstream_gene_variant SKCM-US 16 23504719 23504719 single base substitution G A exon_variant SKCM-US 16 23504719 23504719 single base substitution G A missense_variant R105C 313C>T SKCM-US 16 23504719 23504719 single base substitution G A missense_variant R95C 283C>T SKCM-US 16 23505681 23505681 single base substitution C G 3_prime_UTR_variant SKCM-US 16 23505681 23505681 single base substitution C G downstream_gene_variant SKCM-US 16 23505681 23505681 single base substitution C G exon_variant SKCM-US 16 23505681 23505681 single base substitution C G missense_variant W55C 165G>C SKCM-US 16 23505681 23505681 single base substitution C G missense_variant W57C 171G>C SKCM-US 16 23505681 23505681 single base substitution C G missense_variant W65C 195G>C STAD-US 16 23480253 23480253 single base substitution G T exon_variant STAD-US 16 23480253 23480253 single base substitution G T intron_variant STAD-US 16 23480253 23480253 single base substitution G T missense_variant P562H 1685C>A STAD-US 16 23480253 23480253 single base substitution G T upstream_gene_variant STAD-US 16 23494294 23494294 single base substitution G T downstream_gene_variant STAD-US 16 23494294 23494294 single base substitution G T intron_variant STAD-US 16 23494294 23494294 single base substitution G T missense_variant P277H 830C>A STAD-US 16 23494294 23494294 single base substitution G T upstream_gene_variant STAD-US 16 23499987 23499987 single base substitution T C downstream_gene_variant STAD-US 16 23499987 23499987 single base substitution T C exon_variant STAD-US 16 23499987 23499987 single base substitution T C synonymous_variant L173L 519A>G STAD-US 16 23505687 23505687 single base substitution C T 3_prime_UTR_variant STAD-US 16 23505687 23505687 single base substitution C T downstream_gene_variant STAD-US 16 23505687 23505687 single base substitution C T exon_variant STAD-US 16 23505687 23505687 single base substitution C T synonymous_variant A53A 159G>A STAD-US 16 23505687 23505687 single base substitution C T synonymous_variant A55A 165G>A STAD-US 16 23505687 23505687 single base substitution C T synonymous_variant A63A 189G>A THCA-US 16 23498084 23498084 single base substitution G T downstream_gene_variant THCA-US 16 23498084 23498084 single base substitution G T exon_variant THCA-US 16 23498084 23498084 single base substitution G T missense_variant H203N 607C>A UCEC-US 16 23480255 23480255 single base substitution C T exon_variant UCEC-US 16 23480255 23480255 single base substitution C T intron_variant UCEC-US 16 23480255 23480255 single base substitution C T missense_variant M561I 1683G>A UCEC-US 16 23480255 23480255 single base substitution C T upstream_gene_variant UCEC-US 16 23486299 23486299 single base substitution G A exon_variant UCEC-US 16 23486299 23486299 single base substitution G A intron_variant UCEC-US 16 23486299 23486299 single base substitution G A missense_variant P459L 1376C>T UCEC-US 16 23489655 23489655 single base substitution A G intron_variant UCEC-US 16 23489826 23489826 single base substitution T C intron_variant UCEC-US 16 23489826 23489826 single base substitution T C splice_region_variant UCEC-US 16 23490043 23490043 single base substitution G A intron_variant UCEC-US 16 23490063 23490063 single base substitution A G intron_variant UCEC-US 16 23490205 23490205 single base substitution A G intron_variant UCEC-US 16 23490205 23490205 single base substitution A G missense_variant M386T 1157T>C UCEC-US 16 23490205 23490205 single base substitution A G splice_region_variant UCEC-US 16 23491143 23491143 single base substitution G C exon_variant UCEC-US 16 23491143 23491143 single base substitution G C intron_variant UCEC-US 16 23491143 23491143 single base substitution G C missense_variant P358A 1072C>G UCEC-US 16 23497377 23497377 single base substitution G A downstream_gene_variant UCEC-US 16 23497377 23497377 single base substitution G A intron_variant UCEC-US 16 23497377 23497377 single base substitution G A missense_variant R253C 757C>T UCEC-US 16 23497460 23497460 single base substitution G A downstream_gene_variant UCEC-US 16 23497460 23497460 single base substitution G A exon_variant UCEC-US 16 23497460 23497460 single base substitution G A intron_variant UCEC-US 16 23497460 23497460 single base substitution G A missense_variant S225L 674C>T UCEC-US 16 23499931 23499931 single base substitution G T downstream_gene_variant UCEC-US 16 23499931 23499931 single base substitution G T exon_variant UCEC-US 16 23499931 23499931 single base substitution G T missense_variant S192Y 575C>A UCEC-US 16 23504719 23504719 single base substitution G A 3_prime_UTR_variant UCEC-US 16 23504719 23504719 single base substitution G A downstream_gene_variant UCEC-US 16 23504719 23504719 single base substitution G A exon_variant UCEC-US 16 23504719 23504719 single base substitution G A missense_variant R105C 313C>T UCEC-US 16 23504719 23504719 single base substitution G A missense_variant R95C 283C>T UCEC-US 16 23505688 23505688 single base substitution G A 3_prime_UTR_variant UCEC-US 16 23505688 23505688 single base substitution G A downstream_gene_variant UCEC-US 16 23505688 23505688 single base substitution G A exon_variant UCEC-US 16 23505688 23505688 single base substitution G A missense_variant A53V 158C>T UCEC-US 16 23505688 23505688 single base substitution G A missense_variant A55V 164C>T UCEC-US 16 23505688 23505688 single base substitution G A missense_variant A63V 188C>T UCEC-US 16 23507074 23507074 single base substitution C T exon_variant UCEC-US 16 23507074 23507074 single base substitution C T synonymous_variant S29S 87G>A UCEC-US 16 23507074 23507074 single base substitution C T synonymous_variant S31S 93G>A UCEC-US 16 23507074 23507074 single base substitution C T synonymous_variant S39S 117G>A UCEC-US 16 23507074 23507074 single base substitution C T upstream_gene_variant UCEC-US 16 23535308 23535312 deletion of <=200bp TCTGT - upstream_gene_variant UCEC-US 16 23535678 23535678 single base substitution G A upstream_gene_variant UCEC-US 16 23535717 23535717 single base substitution C T upstream_gene_variant UCEC-US 16 23536588 23536588 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-57-1993-01 COSM79901 c.1596C>A p.I532I Substitution - coding silent 16:23470020-23470020 - TCGA-DK-A2I1-01 COSM1301750 c.1004G>C p.R335T Substitution - Missense 16:23480647-23480647 - TCGA-C5-A2LX-01 COSM4827311 c.595C>G p.L199V Substitution - Missense 16:23486775-23486775 - Br08X COSM39422 c.342G>A p.L114L Substitution - coding silent 16:23493369-23493369 - PD6746a COSM1637541 c.834G>A p.T278T Substitution - coding silent 16:23482969-23482969 - STC291 COSM5054754 c.776C>T p.P259L Substitution - Missense 16:23486037-23486037 - P122 COSM1736681 c.1432T>G p.L478V Substitution - Missense 16:23474922-23474922 - SNUH_G45_S1 COSM1376793 c.881C>T p.A294V Substitution - Missense 16:23480770-23480770 - Pat_59_A COSM5850494 c.575C>T p.S192F Substitution - Missense 16:23488610-23488610 - T2197 COSM4686846 c.1630G>A p.V544M Substitution - Missense 16:23468987-23468987 - TCGA-WL-A834-01 COSM4830594 c.1364G>C p.W455S Substitution - Missense 16:23474990-23474990 - TCGA-FW-A3R5-06 COSM3888226 c.904C>T p.L302F Substitution - Missense 16:23480747-23480747 - TCGA-BP-5191-01 COSM471502 c.843G>T p.R281R Substitution - coding silent 16:23482960-23482960 - T3152 COSM4686850 c.513A>T p.K171N Substitution - Missense 16:23488672-23488672 - TCGA-AX-A05Z-01 COSM968784 c.313C>T p.R105C Substitution - Missense 16:23493398-23493398 - TCGA-D1-A17M-01 COSM968785 c.188C>T p.A63V Substitution - Missense 16:23494367-23494367 - CSCC-44-T COSM4456390 c.1008C>G p.V336V Substitution - coding silent 16:23479886-23479886 - 8047847 COSM3387309 c.429G>A p.P143P Substitution - coding silent 16:23491723-23491723 - ACINAR20 COSM1733979 c.1366G>A p.E456K Substitution - Missense 16:23474988-23474988 - HCC19 COSM3706946 c.1355G>T p.G452V Substitution - Missense 16:23474999-23474999 - T2974 COSM4686849 c.850A>G p.S284G Substitution - Missense 16:23482953-23482953 - 61 COSM5740584 c.1021G>C p.A341P Substitution - Missense 16:23479873-23479873 - TCGA-D3-A2JF-06 COSM3507827 c.507G>A p.V169V Substitution - coding silent 16:23488678-23488678 - LUAD-E00443 COSM363751 c.538C>T p.P180S Substitution - Missense 16:23488647-23488647 - pfg122T COSM4751228 c.790G>C p.A264P Substitution - Missense 16:23486023-23486023 - TCGA-DK-A1AC-01 COSM1301751 c.901G>A p.D301N Substitution - Missense 16:23480750-23480750 - HCC143 COSM1609103 c.1732-8T>C p.? Unknown 16:23467708-23467708 - HCC19T COSM3706946 c.1355G>T p.G452V Substitution - Missense 16:23474999-23474999 - PT53 COSM5941388 c.1270G>C p.A424P Substitution - Missense 16:23478390-23478390 - TCGA-BS-A0UA-01 COSM968785 c.188C>T p.A63V Substitution - Missense 16:23494367-23494367 - TCGA-BR-7851-01 COSM4059399 c.1685C>A p.P562H Substitution - Missense 16:23468932-23468932 - STC246 COSM1376793 c.881C>T p.A294V Substitution - Missense 16:23480770-23480770 - PTC-53C COSM4128825 c.90C>G p.L30L Substitution - coding silent 16:23510322-23510322 - Pat_59_B COSM5850494 c.575C>T p.S192F Substitution - Missense 16:23488610-23488610 - TCGA-A6-5665-01 COSM1376792 c.910A>G p.T304A Substitution - Missense 16:23480741-23480741 - TCGA-EI-6507-01 COSM1563184 c.1487G>T p.G496V Substitution - Missense 16:23470129-23470129 - TCGA-F5-6814-01 COSM3420863 c.582T>C p.L194L Substitution - coding silent 16:23486788-23486788 - BD124T COSM5493405 c.942G>T p.M314I Substitution - Missense 16:23480709-23480709 - TCGA-AA-3955-01 COSM297048 c.757C>G p.R253G Substitution - Missense 16:23486056-23486056 - YUBER COSM1708960 c.248T>A p.L83* Substitution - Nonsense 16:23494307-23494307 - TCGA-AA-3811-01 COSM293742 c.1796_1798delGAG p.G599delG Deletion - In frame 16:23467634-23467636 - TCGA-AP-A059-01 COSM968775 c.1683G>A p.M561I Substitution - Missense 16:23468934-23468934 - TCGA-AZ-4315-01 COSM1376793 c.881C>T p.A294V Substitution - Missense 16:23480770-23480770 - SS6003109 COSM3983062 c.1685C>T p.P562L Substitution - Missense 16:23468932-23468932 - Pat_63_B COSM5850493 c.1781C>T p.P594L Substitution - Missense 16:23467651-23467651 - TCGA-D1-A16X-01 COSM968785 c.188C>T p.A63V Substitution - Missense 16:23494367-23494367 - YUGOE COSM968784 c.313C>T p.R105C Substitution - Missense 16:23493398-23493398 - CSCC-5-T COSM4448661 c.1159-1G>T p.? Unknown 16:23478502-23478502 - PTC-7C COSM4128824 c.267C>A p.C89* Substitution - Nonsense 16:23493444-23493444 - LUAD-NYU1219 COSM369921 c.1381G>T p.A461S Substitution - Missense 16:23474973-23474973 - SNUH_G15_S1 COSM3679232 c.660+2T>G p.? Unknown 16:23486708-23486708 - TCGA-AA-3510-01 COSM1376794 c.353A>G p.Y118C Substitution - Missense 16:23491799-23491799 - TCGA-34-5231-01 COSM702984 c.739G>C p.E247Q Substitution - Missense 16:23486074-23486074 - SNU-175 COSM3279724 c.626C>T p.A209V Substitution - Missense 16:23486744-23486744 - TCGA-DD-A39Y-01 COSM4934489 c.1502T>C p.L501P Substitution - Missense 16:23470114-23470114 - CSCC-29-T COSM4465548 c.1389C>T p.S463S Substitution - coding silent 16:23474965-23474965 - LUAD-B02477 COSM335819 c.997G>A p.V333I Substitution - Missense 16:23480654-23480654 - TCGA-BS-A0TJ-01 COSM968776 c.1376C>T p.P459L Substitution - Missense 16:23474978-23474978 - PCSI_0179_Pa_P COSM3377834 c.491A>G p.D164G Substitution - Missense 16:23488694-23488694 - HCT-116 COSM1678934 c.376A>C p.K126Q Substitution - Missense 16:23491776-23491776 - LUAD-S01381 COSM405146 c.1732-1_1737delGGAACCT p.? Unknown PT21_2 COSM968782 c.674C>T p.S225L Substitution - Missense 16:23486139-23486139 - TCGA-AP-A056-01 COSM968782 c.674C>T p.S225L Substitution - Missense 16:23486139-23486139 - TCGA-AA-A010-01 COSM281360 c.638T>G p.L213* Substitution - Nonsense 16:23486732-23486732 - TCGA-EE-A29N-06 COSM968781 c.757C>T p.R253C Substitution - Missense 16:23486056-23486056 - 600 COSM3721927 c.716G>A p.R239Q Substitution - Missense 16:23486097-23486097 - TCGA-HU-A4GX-01 COSM4059404 c.519A>G p.L173L Substitution - coding silent 16:23488666-23488666 - TCGA-EM-A2OW-01 COSM3370366 c.607C>A p.H203N Substitution - Missense 16:23486763-23486763 - T2940 COSM4686847 c.1459C>T p.P487S Substitution - Missense 16:23470157-23470157 - TCGA-AP-A051-01 COSM968778 c.1157T>C p.M386T Substitution - Missense 16:23478884-23478884 - ESCC_158 COSM5646669 c.988G>A p.D330N Substitution - Missense 16:23480663-23480663 - TCGA-BR-4201-01 COSM4059400 c.830C>A p.P277H Substitution - Missense 16:23482973-23482973 - TCGA-06-1804-01 COSM3402194 c.177-1G>A p.? Unknown 16:23494379-23494379 - 61 COSM5740585 c.428C>T p.P143L Substitution - Missense 16:23491724-23491724 - PT52 COSM5940613 c.1042C>T p.P348S Substitution - Missense 16:23479852-23479852 - WSU-HN6 COSM4602304 c.1180G>A p.E394K Substitution - Missense 16:23478480-23478480 - TCGA-A8-A0A6-01 COSM3817563 c.1773T>G p.G591G Substitution - coding silent 16:23467659-23467659 - HCC143T COSM1609103 c.1732-8T>C p.? Unknown 16:23467708-23467708 - TCGA-AA-A00N-01 COSM275286 c.325G>A p.E109K Substitution - Missense 16:23493386-23493386 - TCGA-AA-3966-01 COSM272723 c.867C>T p.D289D Substitution - coding silent 16:23482936-23482936 - TCGA-BR-8081-01 COSM4059406 c.189G>A p.A63A Substitution - coding silent 16:23494366-23494366 - OSCC-GB_00560111 COSM4883779 c.1275G>T p.Q425H Substitution - Missense 16:23478385-23478385 - 381_T COSM3957346 c.859A>G p.T287A Substitution - Missense 16:23482944-23482944 - TCGA-B5-A11Y-01 COSM968786 c.117G>A p.S39S Substitution - coding silent 16:23495753-23495753 - TCGA-ER-A19F-06 COSM3507824 c.1263C>T p.L421L Substitution - coding silent 16:23478397-23478397 - TCGA-DD-A1EA-01 COSM4920130 c.1214C>T p.P405L Substitution - Missense 16:23478446-23478446 - TCGA-DD-A11D-01 COSM4937997 c.260A>G p.E87G Substitution - Missense 16:23493451-23493451 - 587220 COSM968785 c.188C>T p.A63V Substitution - Missense 16:23494367-23494367 - 8044814 COSM1157876 c.951G>A p.R317R Substitution - coding silent 16:23480700-23480700 - CNE2 COSM4995642 c.404T>G p.L135R Substitution - Missense 16:23491748-23491748 - PD4847a COSM5795006 c.849G>A p.A283A Substitution - coding silent 16:23482954-23482954 - HCC2998 COSM3279703 c.1048A>C p.I350L Substitution - Missense 16:23479846-23479846 - B107 COSM1749493 c.1001C>G p.S334C Substitution - Missense 16:23480650-23480650 - PD4195a COSM161251 c.342G>T p.L114F Substitution - Missense 16:23493369-23493369 - TCGA-EE-A2MQ-06 COSM3507825 c.1208C>T p.T403M Substitution - Missense 16:23478452-23478452 - 587342 COSM1208135 c.1246A>G p.R416G Substitution - Missense 16:23478414-23478414 - SC_9001 COSM5570069 c.1517C>T p.T506M Substitution - Missense 16:23470099-23470099 - B107-Tumor COSM1749493 c.1001C>G p.S334C Substitution - Missense 16:23480650-23480650 - TCGA-D1-A103-01 COSM968781 c.757C>T p.R253C Substitution - Missense 16:23486056-23486056 - YUWAND COSM968784 c.313C>T p.R105C Substitution - Missense 16:23493398-23493398 - CSCC-49-T COSM4467280 c.147C>T p.F49F Substitution - coding silent 16:23495723-23495723 - PACA1130 COSM1157876 c.951G>A p.R317R Substitution - coding silent 16:23480700-23480700 - TCGA-QB-A6FS-06 COSM968784 c.313C>T p.R105C Substitution - Missense 16:23493398-23493398 - T3262 COSM4686848 c.1292+1G>A p.? Unknown 16:23478367-23478367 - TCGA-D1-A103-01 COSM968777 c.1159-4A>G p.? Unknown 16:23478505-23478505 - TCGA-AX-A05S-01 COSM968779 c.1072C>G p.P358A Substitution - Missense 16:23479822-23479822 - QGP1 COSM3279707 c.970G>A p.V324M Substitution - Missense 16:23480681-23480681 - TCGA-IK-7675-01 COSM3969461 c.1121C>A p.A374E Substitution - Missense 16:23479773-23479773 - HCT8 COSM4634058 c.1120G>T p.A374S Substitution - Missense 16:23479774-23479774 - TCGA-AX-A0J1-01 COSM968785 c.188C>T p.A63V Substitution - Missense 16:23494367-23494367 - TCGA-EE-A3AB-06 COSM3507829 c.195G>C p.W65C Substitution - Missense 16:23494360-23494360 - TCGA-AX-A0J0-01 COSM968782 c.674C>T p.S225L Substitution - Missense 16:23486139-23486139 - PD9702a COSM5772678 c.1807G>C p.D603H Substitution - Missense 16:23467625-23467625 - C086 COSM5531668 c.527C>T p.P176L Substitution - Missense 16:23488658-23488658 - TCGA-36-2534-01 COSM1323648 c.509A>T p.D170V Substitution - Missense 16:23488676-23488676 - TCGA-B6-A0I8-01 COSM434924 c.919G>A p.V307I Substitution - Missense 16:23480732-23480732 - CSCC-17-T COSM4556828 c.703G>A p.V235M Substitution - Missense 16:23486110-23486110 - TCGA-AP-A0LM-01 COSM968783 c.575C>A p.S192Y Substitution - Missense 16:23488610-23488610 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.460336 16p12 606005 891028|dbSNP|BC000284|C/T|non-coding||2187|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - 3-UTRDeletion . c.1839+4043_1839+4045delATT 16 23474871 HC A C 3-UTRSNV . c.1839+4023T>G 16 23474891 HC - ACC IntronicInsertion . c.1292+143_1292+144insGTG 16 23489546 CLL A G IntronicSNV . c.252+365T>C 16 23505259 MB C A Missense p.L114F c.342G>T 16 23504690 BRCA C A Synonymous p.R281R c.843G>T 16 23494281 RCCC CC TT Missense p.G408N c.1222_1223delinsAA 16 23489758 CM C - Frameshift p.G507Efs*13 c.1520delG 16 23481417 RCCC C G Missense p.E205Q c.613G>C 16 23498078 HNSC C G Missense p.E247Q c.739G>C 16 23497395 LUSC C G Missense p.M251I c.753G>C 16 23497381 CM C G Missense p.R335T c.1004G>C 16 23491968 BLCA C G Missense p.S379T c.1136G>C 16 23490226 STAD C G Missense p.W65C c.195G>C 16 23505681 CM C T Missense p.V307I c.919G>A 16 23492053 BRCA C T SpliceAcceptorSNV . c.177-1G>A 16 23505700 GBM C T Synonymous p.E353E c.1059G>A 16 23491156 CM C T Synonymous p.S39S c.117G>A 16 23507074 UCEC C T Synonymous p.V169V c.507G>A 16 23499999 CM G A Missense p.A63V c.188C>T 16 23505688 UCEC G A Missense p.L518F c.1552C>T 16 23481385 CM G A Missense p.P459L c.1376C>T 16 23486299 UCEC G A Missense p.R253C c.757C>T 16 23497377 CM G A Missense p.T403M c.1208C>T 16 23489773 CM G A Synonymous p.D145D c.435C>T 16 23503038 STAD G A Synonymous p.L114L c.342G>A 16 23504690 GBM G A Synonymous p.L421L c.1263C>T 16 23489718 CM GCATCCAAAGATGTTC - IntronicDeletion . c.1451-2006_1451-1991delGAACATCTTTGGATGC 16 23483477 CLL G C Missense p.P358A c.1072C>G 16 23491143 UCEC G C Missense p.R253G c.757C>G 16 23497377 COREAD G C Synonymous p.V336V c.1008C>G 16 23491207 HNSC GG AA Missense p.S229F c.686_687delinsTT 16 23497447 CM GG AT MultiAAMissense p.N91_H92delinsKY c.273_274delinsAT 16 23504758 CM G T Missense p.A374E c.1121C>A 16 23491094 LGG G T Missense p.H203N c.607C>A 16 23498084 THCA G T Missense p.P277H c.830C>A 16 23494294 STAD G T Synonymous p.I532I c.1596C>A 16 23481341 OV T C Missense p.K482E c.1444A>G 16 23486231 CM T C Missense p.M569V c.1705A>G 16 23480233 HNSC T C Missense p.S596G c.1786A>G 16 23478967 STAD T C Synonymous p.K311K c.933A>G 16 23492039 MM T G IntronicSNV . c.1731+78A>C 16 23480129 CLL