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 3 47378243 47378243 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr3:47378243A>G c.1117A>G c.(1117-1119)Aga>Gga p.R373G BLCA 3 47324545 47324545 + De_novo_Start_OutOfFrame SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr3:47324545G>C BLCA 3 47378027 47378027 + Missense_Mutation SNP G G A TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr3:47378027G>A c.901G>A c.(901-903)Gat>Aat p.D301N BLCA 3 47378043 47378043 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr3:47378043T>C c.917T>C c.(916-918)gTg>gCg p.V306A BLCA 3 47382156 47382156 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:47382156G>C c.1216G>C c.(1216-1218)Gag>Cag p.E406Q BLCA 3 47384267 47384267 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:47384267G>C c.1285G>C c.(1285-1287)Gag>Cag p.E429Q BLCA 3 47385224 47385224 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr3:47385224G>C c.1518G>C c.(1516-1518)ctG>ctC p.L506L BLCA 3 47385368 47385368 + Missense_Mutation SNP G G T TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr3:47385368G>T c.1662G>T c.(1660-1662)atG>atT p.M554I BRCA 3 47324496 47324496 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr3:47324496A>C c.41A>C c.(40-42)cAc>cCc p.H14P BRCA 3 47382093 47382093 + Missense_Mutation SNP A A T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 g.chr3:47382093A>T c.1153A>T c.(1153-1155)Atc>Ttc p.I385F BRCA 3 47385248 47385248 + Silent SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr3:47385248G>A c.1542G>A c.(1540-1542)agG>agA p.R514R CESC 3 47364191 47364191 + Nonsense_Mutation SNP C C T TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 g.chr3:47364191C>T c.394C>T c.(394-396)Cga>Tga p.R132* CESC 3 47384226 47384226 + Missense_Mutation SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr3:47384226C>T c.1244C>T c.(1243-1245)tCg>tTg p.S415L COAD 3 47361205 47361205 + Silent SNP T T C TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:47361205T>C c.192T>C c.(190-192)caT>caC p.H64H COAD 3 47364087 47364087 + Missense_Mutation SNP A A G TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:47364087A>G c.290A>G c.(289-291)tAc>tGc p.Y97C COAD 3 47364101 47364101 + Missense_Mutation SNP G G T TCGA-AA-3692-01A-01W-0900-09 TCGA-AA-3692-10A-01W-0900-09 g.chr3:47364101G>T c.304G>T c.(304-306)Gcc>Tcc p.A102S COAD 3 47364152 47364152 + Nonsense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:47364152C>T c.355C>T c.(355-357)Cag>Tag p.Q119* COAD 3 47371614 47371614 + Missense_Mutation SNP A A C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:47371614A>C c.575A>C c.(574-576)gAg>gCg p.E192A COAD 3 47374763 47374763 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:47374763C>T c.717C>T c.(715-717)gaC>gaT p.D239D COAD 3 47376253 47376253 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:47376253G>A c.842G>A c.(841-843)cGc>cAc p.R281H COAD 3 47385123 47385123 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:47385123G>A c.1417G>A c.(1417-1419)Gcc>Acc p.A473T COAD 3 47385309 47385309 + Nonsense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:47385309C>T c.1603C>T c.(1603-1605)Cag>Tag p.Q535* COAD 3 47385352 47385352 + Missense_Mutation SNP A A C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:47385352A>C c.1646A>C c.(1645-1647)gAc>gCc p.D549A COADREAD 3 47361205 47361205 + Silent SNP T T C TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:47361205T>C c.192T>C c.(190-192)caT>caC p.H64H COADREAD 3 47364087 47364087 + Missense_Mutation SNP A A G TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:47364087A>G c.290A>G c.(289-291)tAc>tGc p.Y97C COADREAD 3 47364101 47364101 + Missense_Mutation SNP G G T TCGA-AA-3692-01A-01W-0900-09 TCGA-AA-3692-10A-01W-0900-09 g.chr3:47364101G>T c.304G>T c.(304-306)Gcc>Tcc p.A102S COADREAD 3 47364152 47364152 + Nonsense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:47364152C>T c.355C>T c.(355-357)Cag>Tag p.Q119* COADREAD 3 47364191 47364191 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:47364191C>T c.394C>T c.(394-396)Cga>Tga p.R132* COADREAD 3 47371614 47371614 + Missense_Mutation SNP A A C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:47371614A>C c.575A>C c.(574-576)gAg>gCg p.E192A COADREAD 3 47374763 47374763 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:47374763C>T c.717C>T c.(715-717)gaC>gaT p.D239D COADREAD 3 47376253 47376253 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr3:47376253G>A c.842G>A c.(841-843)cGc>cAc p.R281H COADREAD 3 47385056 47385056 + Silent SNP C C T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr3:47385056C>T c.1350C>T c.(1348-1350)taC>taT p.Y450Y COADREAD 3 47385123 47385123 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:47385123G>A c.1417G>A c.(1417-1419)Gcc>Acc p.A473T COADREAD 3 47385309 47385309 + Nonsense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr3:47385309C>T c.1603C>T c.(1603-1605)Cag>Tag p.Q535* COADREAD 3 47385352 47385352 + Missense_Mutation SNP A A C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:47385352A>C c.1646A>C c.(1645-1647)gAc>gCc p.D549A DLBC 3 47385186 47385186 + Missense_Mutation SNP G G A TCGA-FF-A7CR-01A-11D-A382-10 TCGA-FF-A7CR-10A-01D-A385-10 g.chr3:47385186G>A c.1480G>A c.(1480-1482)Gcc>Acc p.A494T ESCA 3 47371501 47371501 + Silent SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr3:47371501G>C c.462G>C c.(460-462)gtG>gtC p.V154V ESCA 3 47384290 47384290 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr3:47384290C>T c.1308C>T c.(1306-1308)ggC>ggT p.G436G GBMLGG 3 47361235 47361235 + Silent SNP C C T TCGA-E1-5302-01A-01D-1468-08 TCGA-E1-5302-10A-01D-1468-08 g.chr3:47361235C>T c.222C>T c.(220-222)tgC>tgT p.C74C GBMLGG 3 47384261 47384261 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr3:47384261G>A c.1279G>A c.(1279-1281)Gtc>Atc p.V427I HNSC 3 47378140 47378140 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr3:47378140C>T c.1014C>T c.(1012-1014)ctC>ctT p.L338L HNSC 3 47384244 47384244 + Missense_Mutation SNP G G A TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr3:47384244G>A c.1262G>A c.(1261-1263)aGt>aAt p.S421N HNSC 3 47385244 47385244 + Missense_Mutation SNP G G A TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr3:47385244G>A c.1538G>A c.(1537-1539)cGc>cAc p.R513H KIPAN 3 47374712 47374713 + Missense_Mutation DNP GC GC TA TCGA-A4-A6HP-01A-11D-A31X-10 TCGA-A4-A6HP-10A-01D-A31X-10 g.chr3:47374712_47374713GC>TA c.666_667GC>TA c.(664-669)gaGCtg>gaTAtg p.222_223EL>DM KIRP 3 47374712 47374713 + Missense_Mutation DNP GC GC TA TCGA-A4-A6HP-01A-11D-A31X-10 TCGA-A4-A6HP-10A-01D-A31X-10 g.chr3:47374712_47374713GC>TA c.666_667GC>TA c.(664-669)gaGCtg>gaTAtg p.222_223EL>DM LAML 3 47385201 47385201 + Missense_Mutation SNP T T C TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 g.chr3:47385201T>C c.1495T>C c.(1495-1497)Tct>Cct p.S499P LGG 3 47361235 47361235 + Silent SNP C C T TCGA-E1-5302-01A-01D-1468-08 TCGA-E1-5302-10A-01D-1468-08 g.chr3:47361235C>T c.222C>T c.(220-222)tgC>tgT p.C74C LGG 3 47384261 47384261 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 g.chr3:47384261G>A c.1279G>A c.(1279-1281)Gtc>Atc p.V427I LIHC 3 47371491 47371491 + Missense_Mutation SNP T T C TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr3:47371491T>C c.452T>C c.(451-453)aTg>aCg p.M151T LIHC 3 47371504 47371504 + Silent SNP G G C TCGA-DD-AAVQ-01A-11D-A40R-10 TCGA-DD-AAVQ-10A-01D-A40U-10 g.chr3:47371504G>C c.465G>C c.(463-465)ctG>ctC p.L155L LUAD 3 47364148 47364148 + Silent SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 g.chr3:47364148C>T c.351C>T c.(349-351)ttC>ttT p.F117F LUAD 3 47371576 47371576 + Silent SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr3:47371576G>T c.537G>T c.(535-537)ctG>ctT p.L179L LUAD 3 47371577 47371577 + Missense_Mutation SNP C C G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr3:47371577C>G c.538C>G c.(538-540)Ccc>Gcc p.P180A LUAD 3 47374692 47374692 + Frame_Shift_Del DEL A A - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr3:47374692delA c.646delA c.(646-648)aggfs p.R216fs LUAD 3 47376203 47376203 + Missense_Mutation SNP C C A TCGA-93-A4JQ-01A-11D-A24P-08 TCGA-93-A4JQ-10A-01D-A24P-08 g.chr3:47376203C>A c.792C>A c.(790-792)caC>caA p.H264Q LUAD 3 47378117 47378117 + Missense_Mutation SNP G G A TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr3:47378117G>A c.991G>A c.(991-993)Gtg>Atg p.V331M LUAD 3 47382105 47382105 + Frame_Shift_Del DEL G G - TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr3:47382105delG c.1165delG c.(1165-1167)gggfs p.G390fs LUAD 3 47385112 47385112 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr3:47385112G>T c.1406G>T c.(1405-1407)cGg>cTg p.R469L LUAD 3 47385291 47385291 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 g.chr3:47385291G>T c.1585G>T c.(1585-1587)Gtt>Ttt p.V529F LUAD 3 47385400 47385400 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 g.chr3:47385400G>T c.1694G>T c.(1693-1695)gGt>gTt p.G565V LUAD 3 47385414 47385414 + Missense_Mutation SNP C C G TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr3:47385414C>G c.1708C>G c.(1708-1710)Cct>Gct p.P570A LUSC 3 47371567 47371567 + Silent SNP C C T TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr3:47371567C>T c.528C>T c.(526-528)ttC>ttT p.F176F LUSC 3 47374703 47374703 + Silent SNP C C T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr3:47374703C>T c.657C>T c.(655-657)taC>taT p.Y219Y LUSC 3 47378109 47378109 + Missense_Mutation SNP G G C TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr3:47378109G>C c.983G>C c.(982-984)cGc>cCc p.R328P LUSC 3 47382151 47382151 + Missense_Mutation SNP C C T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr3:47382151C>T c.1211C>T c.(1210-1212)tCa>tTa p.S404L PAAD 3 47371497 47371497 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:47371497C>T c.458C>T c.(457-459)gCt>gTt p.A153V PRAD 3 47361170 47361170 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 g.chr3:47361170C>T c.157C>T c.(157-159)Cgg>Tgg p.R53W PRAD 3 47364056 47364056 + Splice_Site SNP A A G TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 g.chr3:47364056A>G c.e3-1 READ 3 47364191 47364191 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:47364191C>T c.394C>T c.(394-396)Cga>Tga p.R132* READ 3 47385056 47385056 + Silent SNP C C T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr3:47385056C>T c.1350C>T c.(1348-1350)taC>taT p.Y450Y SARC 3 47374754 47374754 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr3:47374754C>T c.708C>T c.(706-708)ttC>ttT p.F236F SARC 3 47385390 47385390 + Missense_Mutation SNP G G A TCGA-DX-A1L4-01A-12D-A26G-09 TCGA-DX-A1L4-10A-01D-A26G-09 g.chr3:47385390G>A c.1684G>A c.(1684-1686)Gga>Aga p.G562R SKCM 3 47361177 47361177 + Missense_Mutation SNP T T C TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr3:47361177T>C c.164T>C c.(163-165)gTc>gCc p.V55A SKCM 3 47361193 47361193 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr3:47361193C>T c.180C>T c.(178-180)atC>atT p.I60I SKCM 3 47371532 47371532 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:47371532C>T c.493C>T c.(493-495)Cag>Tag p.Q165* SKCM 3 47371546 47371546 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr3:47371546G>A c.507G>A c.(505-507)gaG>gaA p.E169E SKCM 3 47371567 47371567 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:47371567C>T c.528C>T c.(526-528)ttC>ttT p.F176F SKCM 3 47371613 47371613 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:47371613G>A c.574G>A c.(574-576)Gag>Aag p.E192K SKCM 3 47374649 47374649 + Silent SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr3:47374649C>T c.603C>T c.(601-603)gtC>gtT p.V201V SKCM 3 47374698 47374698 + Missense_Mutation SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr3:47374698C>T c.652C>T c.(652-654)Ccc>Tcc p.P218S SKCM 3 47376274 47376274 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:47376274G>A c.863G>A c.(862-864)gGa>gAa p.G288E SKCM 3 47378198 47378198 + Missense_Mutation SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr3:47378198C>T c.1072C>T c.(1072-1074)Ccg>Tcg p.P358S SKCM 3 47378199 47378199 + Missense_Mutation SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr3:47378199C>T c.1073C>T c.(1072-1074)cCg>cTg p.P358L SKCM 3 47384223 47384223 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:47384223C>T c.1241C>T c.(1240-1242)aCc>aTc p.T414I SKCM 3 47385128 47385128 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr3:47385128C>T c.1422C>T c.(1420-1422)tcC>tcT p.S474S SKCM 3 47385128 47385128 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:47385128C>T c.1422C>T c.(1420-1422)tcC>tcT p.S474S SKCM 3 47385374 47385374 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:47385374C>T c.1668C>T c.(1666-1668)ccC>ccT p.P556P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 47378043 47378043 single base substitution T C 3_prime_UTR_variant BLCA-US 3 47378043 47378043 single base substitution T C exon_variant BLCA-US 3 47378043 47378043 single base substitution T C missense_variant V194A 581T>C BLCA-US 3 47378043 47378043 single base substitution T C missense_variant V306A 917T>C BLCA-US 3 47384267 47384267 single base substitution G C 3_prime_UTR_variant BLCA-US 3 47384267 47384267 single base substitution G C downstream_gene_variant BLCA-US 3 47384267 47384267 single base substitution G C missense_variant E317Q 949G>C BLCA-US 3 47384267 47384267 single base substitution G C missense_variant E429Q 1285G>C BLCA-US 3 47385224 47385224 single base substitution G C 3_prime_UTR_variant BLCA-US 3 47385224 47385224 single base substitution G C downstream_gene_variant BLCA-US 3 47385224 47385224 single base substitution G C synonymous_variant L394L 1182G>C BLCA-US 3 47385224 47385224 single base substitution G C synonymous_variant L506L 1518G>C BRCA-EU 3 47321076 47321076 single base substitution A G upstream_gene_variant BRCA-EU 3 47324725 47324725 single base substitution G C intron_variant BRCA-EU 3 47326180 47326180 single base substitution G A intron_variant BRCA-EU 3 47326808 47326808 single base substitution C T intron_variant BRCA-EU 3 47327065 47327065 single base substitution T G intron_variant BRCA-EU 3 47327112 47327112 single base substitution C G intron_variant BRCA-EU 3 47330678 47330678 single base substitution G A downstream_gene_variant BRCA-EU 3 47330678 47330678 single base substitution G A intron_variant BRCA-EU 3 47330880 47330880 single base substitution G C downstream_gene_variant BRCA-EU 3 47330880 47330880 single base substitution G C intron_variant BRCA-EU 3 47333938 47333938 single base substitution T C downstream_gene_variant BRCA-EU 3 47333938 47333938 single base substitution T C intron_variant BRCA-EU 3 47338837 47338837 single base substitution G A intron_variant BRCA-EU 3 47342475 47342475 single base substitution G A intron_variant BRCA-EU 3 47342746 47342746 single base substitution G T intron_variant BRCA-EU 3 47342915 47342915 insertion of <=200bp - T intron_variant BRCA-EU 3 47343109 47343109 single base substitution T C intron_variant BRCA-EU 3 47345815 47345815 single base substitution C G intron_variant BRCA-EU 3 47346182 47346182 insertion of <=200bp - T intron_variant BRCA-EU 3 47346246 47346246 single base substitution G A intron_variant BRCA-EU 3 47347195 47347195 single base substitution G T intron_variant BRCA-EU 3 47349807 47349807 single base substitution T C intron_variant BRCA-EU 3 47351002 47351002 single base substitution C G intron_variant BRCA-EU 3 47353762 47353762 single base substitution G C intron_variant BRCA-EU 3 47354118 47354118 single base substitution C T intron_variant BRCA-EU 3 47354565 47354565 single base substitution A C intron_variant BRCA-EU 3 47356419 47356419 single base substitution G T intron_variant BRCA-EU 3 47356420 47356420 deletion of <=200bp T - intron_variant BRCA-EU 3 47357275 47357275 single base substitution C T intron_variant BRCA-EU 3 47357356 47357356 single base substitution G A intron_variant BRCA-EU 3 47360386 47360386 single base substitution C A intron_variant BRCA-EU 3 47360660 47360660 single base substitution C G intron_variant BRCA-EU 3 47361082 47361082 deletion of <=200bp G - intron_variant BRCA-EU 3 47362241 47362241 deletion of <=200bp A - intron_variant BRCA-EU 3 47362636 47362636 single base substitution C A intron_variant BRCA-EU 3 47362783 47362783 single base substitution C G intron_variant BRCA-EU 3 47363392 47363392 single base substitution C G intron_variant BRCA-EU 3 47364043 47364043 single base substitution C A intron_variant BRCA-EU 3 47364896 47364896 single base substitution A G downstream_gene_variant BRCA-EU 3 47364896 47364896 single base substitution A G intron_variant BRCA-EU 3 47365327 47365327 single base substitution G C downstream_gene_variant BRCA-EU 3 47365327 47365327 single base substitution G C intron_variant BRCA-EU 3 47366158 47366158 single base substitution A G downstream_gene_variant BRCA-EU 3 47366158 47366158 single base substitution A G intron_variant BRCA-EU 3 47366169 47366169 single base substitution A T downstream_gene_variant BRCA-EU 3 47366169 47366169 single base substitution A T intron_variant BRCA-EU 3 47366434 47366434 single base substitution C A downstream_gene_variant BRCA-EU 3 47366434 47366434 single base substitution C A intron_variant BRCA-EU 3 47366707 47366707 single base substitution G C downstream_gene_variant BRCA-EU 3 47366707 47366707 single base substitution G C intron_variant BRCA-EU 3 47368745 47368745 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 47368745 47368745 deletion of <=200bp A - intron_variant BRCA-EU 3 47369075 47369075 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 47369075 47369075 deletion of <=200bp T - intron_variant BRCA-EU 3 47370969 47370969 single base substitution A G intron_variant BRCA-EU 3 47371508 47371508 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 47371508 47371508 single base substitution G C exon_variant BRCA-EU 3 47371508 47371508 single base substitution G C missense_variant D157H 469G>C BRCA-EU 3 47371508 47371508 single base substitution G C missense_variant D45H 133G>C BRCA-EU 3 47371676 47371676 single base substitution G A intron_variant BRCA-EU 3 47374403 47374403 single base substitution G T intron_variant BRCA-EU 3 47374763 47374763 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 47374763 47374763 single base substitution C G exon_variant BRCA-EU 3 47374763 47374763 single base substitution C G missense_variant D127E 381C>G BRCA-EU 3 47374763 47374763 single base substitution C G missense_variant D239E 717C>G BRCA-EU 3 47375214 47375214 single base substitution G A intron_variant BRCA-EU 3 47376098 47376098 single base substitution G T intron_variant BRCA-EU 3 47379102 47379102 single base substitution G C exon_variant BRCA-EU 3 47379102 47379102 single base substitution G C intron_variant BRCA-EU 3 47387535 47387535 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 47387535 47387535 single base substitution T C downstream_gene_variant BRCA-EU 3 47388615 47388615 single base substitution A G downstream_gene_variant BRCA-EU 3 47392487 47392487 single base substitution G C downstream_gene_variant BRCA-FR 3 47324725 47324725 single base substitution G C intron_variant BRCA-FR 3 47338837 47338837 single base substitution G A intron_variant BRCA-FR 3 47344534 47344534 single base substitution C T intron_variant BRCA-FR 3 47360057 47360057 single base substitution T G intron_variant BRCA-FR 3 47371676 47371676 single base substitution G A intron_variant BRCA-FR 3 47374403 47374403 single base substitution G T intron_variant BRCA-FR 3 47379102 47379102 single base substitution G C exon_variant BRCA-FR 3 47379102 47379102 single base substitution G C intron_variant BRCA-UK 3 47342488 47342488 single base substitution G A intron_variant BRCA-US 3 47324496 47324496 single base substitution A C 5_prime_UTR_variant BRCA-US 3 47324496 47324496 single base substitution A C exon_variant BRCA-US 3 47324496 47324496 single base substitution A C missense_variant H14P 41A>C BRCA-US 3 47382093 47382093 single base substitution A T 3_prime_UTR_variant BRCA-US 3 47382093 47382093 single base substitution A T downstream_gene_variant BRCA-US 3 47382093 47382093 single base substitution A T missense_variant I273F 817A>T BRCA-US 3 47382093 47382093 single base substitution A T missense_variant I385F 1153A>T BRCA-US 3 47385248 47385248 single base substitution G A 3_prime_UTR_variant BRCA-US 3 47385248 47385248 single base substitution G A downstream_gene_variant BRCA-US 3 47385248 47385248 single base substitution G A synonymous_variant R402R 1206G>A BRCA-US 3 47385248 47385248 single base substitution G A synonymous_variant R514R 1542G>A BTCA-JP 3 47339247 47339247 single base substitution G T intron_variant BTCA-JP 3 47371414 47371414 deletion of <=200bp T - intron_variant BTCA-JP 3 47374624 47374624 single base substitution C T intron_variant BTCA-JP 3 47385062 47385062 single base substitution C G 3_prime_UTR_variant BTCA-JP 3 47385062 47385062 single base substitution C G downstream_gene_variant BTCA-JP 3 47385062 47385062 single base substitution C G missense_variant H340Q 1020C>G BTCA-JP 3 47385062 47385062 single base substitution C G missense_variant H452Q 1356C>G CESC-US 3 47364191 47364191 single base substitution C T 3_prime_UTR_variant CESC-US 3 47364191 47364191 single base substitution C T exon_variant CESC-US 3 47364191 47364191 single base substitution C T stop_gained R132* 394C>T CESC-US 3 47364191 47364191 single base substitution C T stop_gained R20* 58C>T CESC-US 3 47384226 47384226 single base substitution C T 3_prime_UTR_variant CESC-US 3 47384226 47384226 single base substitution C T downstream_gene_variant CESC-US 3 47384226 47384226 single base substitution C T missense_variant S303L 908C>T CESC-US 3 47384226 47384226 single base substitution C T missense_variant S415L 1244C>T CLLE-ES 3 47324265 47324265 single base substitution G A upstream_gene_variant COAD-US 3 47364152 47364152 single base substitution C T 3_prime_UTR_variant COAD-US 3 47364152 47364152 single base substitution C T exon_variant COAD-US 3 47364152 47364152 single base substitution C T stop_gained Q119* 355C>T COAD-US 3 47364152 47364152 single base substitution C T stop_gained Q7* 19C>T COAD-US 3 47374763 47374763 single base substitution C T 3_prime_UTR_variant COAD-US 3 47374763 47374763 single base substitution C T exon_variant COAD-US 3 47374763 47374763 single base substitution C T synonymous_variant D127D 381C>T COAD-US 3 47374763 47374763 single base substitution C T synonymous_variant D239D 717C>T COAD-US 3 47376253 47376253 single base substitution G A 3_prime_UTR_variant COAD-US 3 47376253 47376253 single base substitution G A exon_variant COAD-US 3 47376253 47376253 single base substitution G A missense_variant R169H 506G>A COAD-US 3 47376253 47376253 single base substitution G A missense_variant R281H 842G>A COCA-CN 3 47374726 47374726 single base substitution T C 3_prime_UTR_variant COCA-CN 3 47374726 47374726 single base substitution T C exon_variant COCA-CN 3 47374726 47374726 single base substitution T C missense_variant I115T 344T>C COCA-CN 3 47374726 47374726 single base substitution T C missense_variant I227T 680T>C COCA-CN 3 47376001 47376001 single base substitution C G intron_variant COCA-CN 3 47377928 47377928 single base substitution G T intron_variant COCA-CN 3 47378304 47378304 single base substitution A G exon_variant COCA-CN 3 47378304 47378304 single base substitution A G intron_variant EOPC-DE 3 47379692 47379692 single base substitution G C exon_variant EOPC-DE 3 47379692 47379692 single base substitution G C intron_variant EOPC-DE 3 47379693 47379693 single base substitution G T exon_variant EOPC-DE 3 47379693 47379693 single base substitution G T intron_variant ESAD-UK 3 47319709 47319709 single base substitution G A upstream_gene_variant ESAD-UK 3 47320254 47320254 single base substitution G A upstream_gene_variant ESAD-UK 3 47321117 47321117 single base substitution T A upstream_gene_variant ESAD-UK 3 47322580 47322580 single base substitution C T upstream_gene_variant ESAD-UK 3 47325596 47325596 single base substitution C T intron_variant ESAD-UK 3 47327045 47327045 insertion of <=200bp - G intron_variant ESAD-UK 3 47327441 47327441 single base substitution G T intron_variant ESAD-UK 3 47327681 47327681 single base substitution C T intron_variant ESAD-UK 3 47328467 47328467 deletion of <=200bp G - intron_variant ESAD-UK 3 47332480 47332480 single base substitution C T downstream_gene_variant ESAD-UK 3 47332480 47332480 single base substitution C T intron_variant ESAD-UK 3 47333810 47333810 single base substitution T G downstream_gene_variant ESAD-UK 3 47333810 47333810 single base substitution T G intron_variant ESAD-UK 3 47336089 47336089 single base substitution G C intron_variant ESAD-UK 3 47340396 47340396 single base substitution T C intron_variant ESAD-UK 3 47341454 47341454 single base substitution C G intron_variant ESAD-UK 3 47342850 47342850 single base substitution T G intron_variant ESAD-UK 3 47342879 47342879 single base substitution A C intron_variant ESAD-UK 3 47346701 47346701 single base substitution G A intron_variant ESAD-UK 3 47353913 47353913 single base substitution G A intron_variant ESAD-UK 3 47355636 47355636 single base substitution C T intron_variant ESAD-UK 3 47356817 47356817 single base substitution C A intron_variant ESAD-UK 3 47356818 47356818 single base substitution C T intron_variant ESAD-UK 3 47357376 47357376 single base substitution G C intron_variant ESAD-UK 3 47358236 47358245 deletion of <=200bp TATATATGTA - intron_variant ESAD-UK 3 47362178 47362178 single base substitution C T intron_variant ESAD-UK 3 47365277 47365277 single base substitution T A downstream_gene_variant ESAD-UK 3 47365277 47365277 single base substitution T A intron_variant ESAD-UK 3 47365458 47365458 single base substitution T C downstream_gene_variant ESAD-UK 3 47365458 47365458 single base substitution T C intron_variant ESAD-UK 3 47368586 47368586 single base substitution G A downstream_gene_variant ESAD-UK 3 47368586 47368586 single base substitution G A intron_variant ESAD-UK 3 47369314 47369314 single base substitution C A intron_variant ESAD-UK 3 47371223 47371223 single base substitution C G intron_variant ESAD-UK 3 47372062 47372062 single base substitution G A intron_variant ESAD-UK 3 47373506 47373506 single base substitution A G intron_variant ESAD-UK 3 47373771 47373771 single base substitution G A intron_variant ESAD-UK 3 47374093 47374093 deletion of <=200bp G - intron_variant ESAD-UK 3 47374985 47374985 single base substitution T A intron_variant ESAD-UK 3 47380815 47380815 single base substitution G A downstream_gene_variant ESAD-UK 3 47380815 47380815 single base substitution G A intron_variant ESAD-UK 3 47383651 47383651 single base substitution G A downstream_gene_variant ESAD-UK 3 47383651 47383651 single base substitution G A intron_variant ESAD-UK 3 47386852 47386852 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 47386852 47386852 single base substitution C T downstream_gene_variant ESAD-UK 3 47387275 47387275 single base substitution C A 3_prime_UTR_variant ESAD-UK 3 47387275 47387275 single base substitution C A downstream_gene_variant ESAD-UK 3 47388475 47388475 single base substitution G A downstream_gene_variant ESAD-UK 3 47392506 47392506 single base substitution A T downstream_gene_variant KIRP-US 3 47374712 47374712 single base substitution G T 3_prime_UTR_variant KIRP-US 3 47374712 47374712 single base substitution G T exon_variant KIRP-US 3 47374712 47374712 single base substitution G T missense_variant E110D 330G>T KIRP-US 3 47374712 47374712 single base substitution G T missense_variant E222D 666G>T KIRP-US 3 47374713 47374713 single base substitution C A 3_prime_UTR_variant KIRP-US 3 47374713 47374713 single base substitution C A exon_variant KIRP-US 3 47374713 47374713 single base substitution C A missense_variant L111M 331C>A KIRP-US 3 47374713 47374713 single base substitution C A missense_variant L223M 667C>A LGG-US 3 47361235 47361235 single base substitution C T 3_prime_UTR_variant LGG-US 3 47361235 47361235 single base substitution C T exon_variant LGG-US 3 47361235 47361235 single base substitution C T intron_variant LGG-US 3 47361235 47361235 single base substitution C T synonymous_variant C74C 222C>T LGG-US 3 47384261 47384261 single base substitution G A 3_prime_UTR_variant LGG-US 3 47384261 47384261 single base substitution G A downstream_gene_variant LGG-US 3 47384261 47384261 single base substitution G A missense_variant V315I 943G>A LGG-US 3 47384261 47384261 single base substitution G A missense_variant V427I 1279G>A LICA-CN 3 47324459 47324459 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 3 47324459 47324459 single base substitution G A exon_variant LICA-CN 3 47324459 47324459 single base substitution G A missense_variant V2M 4G>A LICA-FR 3 47324676 47324676 single base substitution G T intron_variant LICA-FR 3 47324677 47324677 single base substitution G T intron_variant LICA-FR 3 47382075 47382075 single base substitution G T 3_prime_UTR_variant LICA-FR 3 47382075 47382075 single base substitution G T downstream_gene_variant LICA-FR 3 47382075 47382075 single base substitution G T missense_variant V267F 799G>T LICA-FR 3 47382075 47382075 single base substitution G T missense_variant V379F 1135G>T LICA-FR 3 47384319 47384319 single base substitution G A downstream_gene_variant LICA-FR 3 47384319 47384319 single base substitution G A missense_variant S334N 1001G>A LICA-FR 3 47384319 47384319 single base substitution G A missense_variant S446N 1337G>A LICA-FR 3 47384319 47384319 single base substitution G A splice_region_variant LIHC-US 3 47371491 47371491 single base substitution T C 3_prime_UTR_variant LIHC-US 3 47371491 47371491 single base substitution T C exon_variant LIHC-US 3 47371491 47371491 single base substitution T C missense_variant M151T 452T>C LIHC-US 3 47371491 47371491 single base substitution T C missense_variant M39T 116T>C LIHC-US 3 47376272 47376272 single base substitution T C 3_prime_UTR_variant LIHC-US 3 47376272 47376272 single base substitution T C exon_variant LIHC-US 3 47376272 47376272 single base substitution T C synonymous_variant A175A 525T>C LIHC-US 3 47376272 47376272 single base substitution T C synonymous_variant A287A 861T>C LINC-JP 3 47321804 47321804 single base substitution C T upstream_gene_variant LINC-JP 3 47333835 47333835 single base substitution A G downstream_gene_variant LINC-JP 3 47333835 47333835 single base substitution A G intron_variant LINC-JP 3 47336305 47336305 single base substitution C T intron_variant LINC-JP 3 47341675 47341675 single base substitution A G intron_variant LINC-JP 3 47345782 47345782 single base substitution G T intron_variant LINC-JP 3 47371414 47371414 deletion of <=200bp T - intron_variant LINC-JP 3 47375689 47375689 single base substitution T C intron_variant LINC-JP 3 47384476 47384476 single base substitution G A downstream_gene_variant LINC-JP 3 47384476 47384476 single base substitution G A intron_variant LIRI-JP 3 47321654 47321654 single base substitution C T upstream_gene_variant LIRI-JP 3 47328737 47328737 single base substitution C T exon_variant LIRI-JP 3 47328737 47328737 single base substitution C T intron_variant LIRI-JP 3 47329987 47329989 deletion of <=200bp TTA - downstream_gene_variant LIRI-JP 3 47329987 47329989 deletion of <=200bp TTA - intron_variant LIRI-JP 3 47337516 47337516 single base substitution C T intron_variant LIRI-JP 3 47338170 47338170 single base substitution A G intron_variant LIRI-JP 3 47340707 47340707 single base substitution T G intron_variant LIRI-JP 3 47341227 47341227 single base substitution G A intron_variant LIRI-JP 3 47343649 47343649 single base substitution C T intron_variant LIRI-JP 3 47343668 47343668 single base substitution A C intron_variant LIRI-JP 3 47346055 47346055 single base substitution A G intron_variant LIRI-JP 3 47349000 47349000 single base substitution A C intron_variant LIRI-JP 3 47349004 47349004 single base substitution T G intron_variant LIRI-JP 3 47349052 47349052 single base substitution A T intron_variant LIRI-JP 3 47352183 47352183 single base substitution A G intron_variant LIRI-JP 3 47352218 47352218 single base substitution C T intron_variant LIRI-JP 3 47352942 47352942 single base substitution G A intron_variant LIRI-JP 3 47361573 47361573 single base substitution A G intron_variant LIRI-JP 3 47362896 47362896 single base substitution A G intron_variant LIRI-JP 3 47365191 47365191 single base substitution G A downstream_gene_variant LIRI-JP 3 47365191 47365191 single base substitution G A intron_variant LIRI-JP 3 47365348 47365348 deletion of <=200bp T - downstream_gene_variant LIRI-JP 3 47365348 47365348 deletion of <=200bp T - intron_variant LIRI-JP 3 47367130 47367130 single base substitution T A downstream_gene_variant LIRI-JP 3 47367130 47367130 single base substitution T A intron_variant LIRI-JP 3 47368340 47368340 single base substitution A G downstream_gene_variant LIRI-JP 3 47368340 47368340 single base substitution A G intron_variant LIRI-JP 3 47370049 47370049 single base substitution G C intron_variant LIRI-JP 3 47370146 47370146 single base substitution T G intron_variant LIRI-JP 3 47371723 47371723 single base substitution A G intron_variant LIRI-JP 3 47373537 47373537 single base substitution G C intron_variant LIRI-JP 3 47379210 47379210 single base substitution G A exon_variant LIRI-JP 3 47379210 47379210 single base substitution G A intron_variant LIRI-JP 3 47380512 47380512 single base substitution A C downstream_gene_variant LIRI-JP 3 47380512 47380512 single base substitution A C intron_variant LIRI-JP 3 47381885 47381885 single base substitution G A downstream_gene_variant LIRI-JP 3 47381885 47381885 single base substitution G A intron_variant LIRI-JP 3 47382772 47382772 single base substitution A G downstream_gene_variant LIRI-JP 3 47382772 47382772 single base substitution A G intron_variant LIRI-JP 3 47387804 47387804 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 47387804 47387804 single base substitution A G downstream_gene_variant LIRI-JP 3 47389384 47389384 single base substitution A G downstream_gene_variant LIRI-JP 3 47392241 47392241 single base substitution T G downstream_gene_variant LIRI-JP 3 47393133 47393133 single base substitution C G downstream_gene_variant LUSC-KR 3 47323915 47323915 single base substitution A T upstream_gene_variant LUSC-KR 3 47325745 47325745 single base substitution A T intron_variant LUSC-KR 3 47332155 47332155 single base substitution T C downstream_gene_variant LUSC-KR 3 47332155 47332155 single base substitution T C intron_variant LUSC-KR 3 47339610 47339610 single base substitution C G intron_variant LUSC-KR 3 47346441 47346441 single base substitution G A intron_variant LUSC-KR 3 47360599 47360599 single base substitution G C intron_variant LUSC-KR 3 47383935 47383935 single base substitution G T downstream_gene_variant LUSC-KR 3 47383935 47383935 single base substitution G T intron_variant LUSC-KR 3 47387811 47387811 single base substitution C G 3_prime_UTR_variant LUSC-KR 3 47387811 47387811 single base substitution C G downstream_gene_variant LUSC-KR 3 47389331 47389331 single base substitution C T downstream_gene_variant LUSC-US 3 47371567 47371567 single base substitution C T 3_prime_UTR_variant LUSC-US 3 47371567 47371567 single base substitution C T exon_variant LUSC-US 3 47371567 47371567 single base substitution C T synonymous_variant F176F 528C>T LUSC-US 3 47371567 47371567 single base substitution C T synonymous_variant F64F 192C>T LUSC-US 3 47374703 47374703 single base substitution C T 3_prime_UTR_variant LUSC-US 3 47374703 47374703 single base substitution C T exon_variant LUSC-US 3 47374703 47374703 single base substitution C T synonymous_variant Y107Y 321C>T LUSC-US 3 47374703 47374703 single base substitution C T synonymous_variant Y219Y 657C>T LUSC-US 3 47378109 47378109 single base substitution G C 3_prime_UTR_variant LUSC-US 3 47378109 47378109 single base substitution G C exon_variant LUSC-US 3 47378109 47378109 single base substitution G C missense_variant R216P 647G>C LUSC-US 3 47378109 47378109 single base substitution G C missense_variant R328P 983G>C LUSC-US 3 47382151 47382151 single base substitution C T 3_prime_UTR_variant LUSC-US 3 47382151 47382151 single base substitution C T downstream_gene_variant LUSC-US 3 47382151 47382151 single base substitution C T missense_variant S292L 875C>T LUSC-US 3 47382151 47382151 single base substitution C T missense_variant S404L 1211C>T MALY-DE 3 47324068 47324068 single base substitution G T upstream_gene_variant MALY-DE 3 47325744 47325745 deletion of <=200bp CA - intron_variant MALY-DE 3 47345254 47345254 single base substitution C T intron_variant MALY-DE 3 47346418 47346418 single base substitution G A intron_variant MALY-DE 3 47349599 47349599 single base substitution C T intron_variant MALY-DE 3 47350206 47350217 deletion of <=200bp TCCCTCCTTCCT - intron_variant MALY-DE 3 47352667 47352667 insertion of <=200bp - T intron_variant MALY-DE 3 47354185 47354185 single base substitution C G intron_variant MALY-DE 3 47358110 47358110 single base substitution T C intron_variant MALY-DE 3 47358123 47358123 single base substitution A G intron_variant MALY-DE 3 47373535 47373535 single base substitution A G intron_variant MALY-DE 3 47374093 47374093 insertion of <=200bp - G intron_variant MALY-DE 3 47378392 47378392 single base substitution T A exon_variant MALY-DE 3 47378392 47378392 single base substitution T A intron_variant MALY-DE 3 47379408 47379408 single base substitution G T exon_variant MALY-DE 3 47379408 47379408 single base substitution G T intron_variant MALY-DE 3 47384501 47384501 single base substitution A C downstream_gene_variant MALY-DE 3 47384501 47384501 single base substitution A C intron_variant MALY-DE 3 47385326 47385326 single base substitution A G 3_prime_UTR_variant MALY-DE 3 47385326 47385326 single base substitution A G synonymous_variant S428S 1284A>G MALY-DE 3 47385326 47385326 single base substitution A G synonymous_variant S540S 1620A>G MALY-DE 3 47388505 47388505 single base substitution C T downstream_gene_variant MALY-DE 3 47392506 47392506 single base substitution A T downstream_gene_variant MALY-DE 3 47392863 47392863 single base substitution G A downstream_gene_variant MALY-DE 3 47393247 47393247 single base substitution A G downstream_gene_variant MELA-AU 3 47320578 47320578 single base substitution G A upstream_gene_variant MELA-AU 3 47321127 47321127 single base substitution G A upstream_gene_variant MELA-AU 3 47321778 47321778 single base substitution G A upstream_gene_variant MELA-AU 3 47321814 47321814 single base substitution G A upstream_gene_variant MELA-AU 3 47322591 47322591 single base substitution G A upstream_gene_variant MELA-AU 3 47322772 47322772 single base substitution G A upstream_gene_variant MELA-AU 3 47323732 47323732 single base substitution G A upstream_gene_variant MELA-AU 3 47324089 47324089 single base substitution G A upstream_gene_variant MELA-AU 3 47324126 47324126 single base substitution G A upstream_gene_variant MELA-AU 3 47324183 47324183 single base substitution G A upstream_gene_variant MELA-AU 3 47324237 47324237 single base substitution G A upstream_gene_variant MELA-AU 3 47324412 47324412 single base substitution C T 5_prime_UTR_variant MELA-AU 3 47324412 47324412 single base substitution C T upstream_gene_variant MELA-AU 3 47324706 47324706 single base substitution G A intron_variant MELA-AU 3 47324772 47324772 single base substitution G A intron_variant MELA-AU 3 47325253 47325253 single base substitution C A intron_variant MELA-AU 3 47325745 47325745 single base substitution A T intron_variant MELA-AU 3 47327760 47327760 single base substitution G A intron_variant MELA-AU 3 47328049 47328049 single base substitution T C intron_variant MELA-AU 3 47328210 47328210 single base substitution C T intron_variant MELA-AU 3 47328319 47328319 single base substitution C T intron_variant MELA-AU 3 47328358 47328358 single base substitution G A intron_variant MELA-AU 3 47328827 47328827 single base substitution C T exon_variant MELA-AU 3 47328827 47328827 single base substitution C T intron_variant MELA-AU 3 47329260 47329260 single base substitution C T downstream_gene_variant MELA-AU 3 47329260 47329260 single base substitution C T intron_variant MELA-AU 3 47329335 47329335 single base substitution C T downstream_gene_variant MELA-AU 3 47329335 47329335 single base substitution C T intron_variant MELA-AU 3 47330391 47330391 single base substitution C T downstream_gene_variant MELA-AU 3 47330391 47330391 single base substitution C T intron_variant MELA-AU 3 47330777 47330777 single base substitution C T downstream_gene_variant MELA-AU 3 47330777 47330777 single base substitution C T intron_variant MELA-AU 3 47330876 47330876 single base substitution C T downstream_gene_variant MELA-AU 3 47330876 47330876 single base substitution C T intron_variant MELA-AU 3 47332311 47332311 single base substitution G A downstream_gene_variant MELA-AU 3 47332311 47332311 single base substitution G A intron_variant MELA-AU 3 47332612 47332612 single base substitution C T downstream_gene_variant MELA-AU 3 47332612 47332612 single base substitution C T intron_variant MELA-AU 3 47332613 47332613 single base substitution C T downstream_gene_variant MELA-AU 3 47332613 47332613 single base substitution C T intron_variant MELA-AU 3 47332648 47332649 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 3 47332648 47332649 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 3 47332649 47332649 single base substitution C T downstream_gene_variant MELA-AU 3 47332649 47332649 single base substitution C T intron_variant MELA-AU 3 47332688 47332688 single base substitution G A downstream_gene_variant MELA-AU 3 47332688 47332688 single base substitution G A intron_variant MELA-AU 3 47332770 47332770 single base substitution C T downstream_gene_variant MELA-AU 3 47332770 47332770 single base substitution C T intron_variant MELA-AU 3 47335229 47335229 single base substitution C A intron_variant MELA-AU 3 47335238 47335238 single base substitution C T intron_variant MELA-AU 3 47337096 47337096 single base substitution C T intron_variant MELA-AU 3 47337383 47337383 single base substitution G A intron_variant MELA-AU 3 47337472 47337472 single base substitution C T intron_variant MELA-AU 3 47337517 47337517 single base substitution C T intron_variant MELA-AU 3 47337536 47337536 single base substitution C T intron_variant MELA-AU 3 47337574 47337574 single base substitution C T intron_variant MELA-AU 3 47337611 47337611 single base substitution C T intron_variant MELA-AU 3 47338624 47338624 single base substitution C T intron_variant MELA-AU 3 47338674 47338674 single base substitution T G intron_variant MELA-AU 3 47338768 47338768 single base substitution C T intron_variant MELA-AU 3 47338796 47338796 single base substitution C T intron_variant MELA-AU 3 47339658 47339658 single base substitution C T intron_variant MELA-AU 3 47339673 47339673 single base substitution C T intron_variant MELA-AU 3 47339703 47339703 single base substitution C T intron_variant MELA-AU 3 47339780 47339780 single base substitution G A intron_variant MELA-AU 3 47340285 47340285 single base substitution C T intron_variant MELA-AU 3 47340307 47340307 single base substitution C T intron_variant MELA-AU 3 47340535 47340535 single base substitution C T intron_variant MELA-AU 3 47340630 47340630 single base substitution C T intron_variant MELA-AU 3 47341142 47341142 single base substitution C G intron_variant MELA-AU 3 47341374 47341374 single base substitution T G intron_variant MELA-AU 3 47341394 47341394 single base substitution C T intron_variant MELA-AU 3 47341945 47341945 single base substitution G A intron_variant MELA-AU 3 47342040 47342040 single base substitution C T intron_variant MELA-AU 3 47342354 47342354 single base substitution C T intron_variant MELA-AU 3 47342977 47342977 single base substitution C T intron_variant MELA-AU 3 47343078 47343078 single base substitution G T intron_variant MELA-AU 3 47344053 47344053 single base substitution C T intron_variant MELA-AU 3 47344671 47344671 single base substitution C T intron_variant MELA-AU 3 47344810 47344810 single base substitution C T intron_variant MELA-AU 3 47344944 47344944 single base substitution C T intron_variant MELA-AU 3 47344945 47344946 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 47346860 47346860 single base substitution T C intron_variant MELA-AU 3 47347569 47347569 single base substitution C T intron_variant MELA-AU 3 47348265 47348265 single base substitution C T intron_variant MELA-AU 3 47348400 47348400 single base substitution A G intron_variant MELA-AU 3 47348481 47348481 single base substitution C T intron_variant MELA-AU 3 47349304 47349304 single base substitution C T intron_variant MELA-AU 3 47349506 47349506 single base substitution C T intron_variant MELA-AU 3 47349507 47349507 single base substitution C T intron_variant MELA-AU 3 47349520 47349520 single base substitution C T intron_variant MELA-AU 3 47350301 47350301 single base substitution C T intron_variant MELA-AU 3 47350312 47350312 single base substitution G A intron_variant MELA-AU 3 47352366 47352366 single base substitution C T intron_variant MELA-AU 3 47352609 47352610 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 47352983 47352983 single base substitution C T intron_variant MELA-AU 3 47353439 47353439 single base substitution C T intron_variant MELA-AU 3 47354213 47354213 single base substitution C T intron_variant MELA-AU 3 47354406 47354406 single base substitution T A intron_variant MELA-AU 3 47355020 47355020 single base substitution C T intron_variant MELA-AU 3 47355276 47355277 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 47355282 47355282 single base substitution C T intron_variant MELA-AU 3 47355388 47355388 single base substitution G A intron_variant MELA-AU 3 47355541 47355541 single base substitution T A intron_variant MELA-AU 3 47355996 47355996 single base substitution C T intron_variant MELA-AU 3 47356273 47356273 single base substitution T C intron_variant MELA-AU 3 47356931 47356931 deletion of <=200bp G - intron_variant MELA-AU 3 47357036 47357036 single base substitution G A intron_variant MELA-AU 3 47357176 47357176 single base substitution C T intron_variant MELA-AU 3 47358110 47358110 single base substitution T C intron_variant MELA-AU 3 47358161 47358161 single base substitution A G intron_variant MELA-AU 3 47358374 47358374 single base substitution G A intron_variant MELA-AU 3 47358453 47358453 single base substitution G A intron_variant MELA-AU 3 47358637 47358637 single base substitution C T intron_variant MELA-AU 3 47358802 47358802 single base substitution C T intron_variant MELA-AU 3 47358811 47358811 single base substitution C T intron_variant MELA-AU 3 47358849 47358849 single base substitution C T intron_variant MELA-AU 3 47358967 47358967 single base substitution A T intron_variant MELA-AU 3 47359612 47359612 single base substitution C T intron_variant MELA-AU 3 47359900 47359900 single base substitution G A intron_variant MELA-AU 3 47360016 47360016 single base substitution A G intron_variant MELA-AU 3 47362238 47362238 single base substitution T C intron_variant MELA-AU 3 47362451 47362451 single base substitution C T intron_variant MELA-AU 3 47362631 47362631 single base substitution C T intron_variant MELA-AU 3 47362867 47362867 single base substitution C T intron_variant MELA-AU 3 47362944 47362944 single base substitution A G intron_variant MELA-AU 3 47363087 47363087 single base substitution G A intron_variant MELA-AU 3 47363258 47363259 deletion of <=200bp TG - intron_variant MELA-AU 3 47363575 47363575 single base substitution C T intron_variant MELA-AU 3 47364192 47364192 single base substitution G A 3_prime_UTR_variant MELA-AU 3 47364192 47364192 single base substitution G A exon_variant MELA-AU 3 47364192 47364192 single base substitution G A missense_variant R132Q 395G>A MELA-AU 3 47364192 47364192 single base substitution G A missense_variant R20Q 59G>A MELA-AU 3 47364540 47364540 single base substitution C T downstream_gene_variant MELA-AU 3 47364540 47364540 single base substitution C T intron_variant MELA-AU 3 47364574 47364574 single base substitution C T downstream_gene_variant MELA-AU 3 47364574 47364574 single base substitution C T intron_variant MELA-AU 3 47364860 47364860 single base substitution C T downstream_gene_variant MELA-AU 3 47364860 47364860 single base substitution C T intron_variant MELA-AU 3 47365139 47365139 single base substitution C T downstream_gene_variant MELA-AU 3 47365139 47365139 single base substitution C T intron_variant MELA-AU 3 47365309 47365309 single base substitution G A downstream_gene_variant MELA-AU 3 47365309 47365309 single base substitution G A intron_variant MELA-AU 3 47365319 47365319 single base substitution C T downstream_gene_variant MELA-AU 3 47365319 47365319 single base substitution C T intron_variant MELA-AU 3 47365338 47365338 single base substitution C T downstream_gene_variant MELA-AU 3 47365338 47365338 single base substitution C T intron_variant MELA-AU 3 47366621 47366621 single base substitution C T downstream_gene_variant MELA-AU 3 47366621 47366621 single base substitution C T intron_variant MELA-AU 3 47366693 47366693 single base substitution G A downstream_gene_variant MELA-AU 3 47366693 47366693 single base substitution G A intron_variant MELA-AU 3 47366786 47366786 single base substitution C T downstream_gene_variant MELA-AU 3 47366786 47366786 single base substitution C T intron_variant MELA-AU 3 47368584 47368585 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 47368584 47368585 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 47369175 47369175 single base substitution C A downstream_gene_variant MELA-AU 3 47369175 47369175 single base substitution C A intron_variant MELA-AU 3 47369262 47369262 single base substitution A G intron_variant MELA-AU 3 47369603 47369603 single base substitution C T intron_variant MELA-AU 3 47370343 47370343 single base substitution C T intron_variant MELA-AU 3 47370397 47370397 single base substitution G A intron_variant MELA-AU 3 47370445 47370445 single base substitution C T intron_variant MELA-AU 3 47370945 47370945 single base substitution G C intron_variant MELA-AU 3 47371613 47371613 single base substitution G A 3_prime_UTR_variant MELA-AU 3 47371613 47371613 single base substitution G A exon_variant MELA-AU 3 47371613 47371613 single base substitution G A missense_variant E192K 574G>A MELA-AU 3 47371613 47371613 single base substitution G A missense_variant E80K 238G>A MELA-AU 3 47371734 47371734 single base substitution C T intron_variant MELA-AU 3 47372040 47372040 single base substitution C T intron_variant MELA-AU 3 47372285 47372285 single base substitution A C intron_variant MELA-AU 3 47372708 47372708 single base substitution C T intron_variant MELA-AU 3 47373370 47373370 single base substitution G A intron_variant MELA-AU 3 47373859 47373859 single base substitution G A intron_variant MELA-AU 3 47373995 47373995 single base substitution C A intron_variant MELA-AU 3 47374190 47374190 single base substitution C T intron_variant MELA-AU 3 47374698 47374699 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 47374698 47374699 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 47374698 47374699 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P106F 316CC>TT MELA-AU 3 47374698 47374699 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P218F 652CC>TT MELA-AU 3 47374951 47374951 single base substitution G A intron_variant MELA-AU 3 47375375 47375375 single base substitution G A intron_variant MELA-AU 3 47375946 47375946 single base substitution A G intron_variant MELA-AU 3 47376244 47376245 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 47376244 47376245 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 47376244 47376245 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T166I 497CC>TT MELA-AU 3 47376244 47376245 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T278I 833CC>TT MELA-AU 3 47376266 47376266 single base substitution C T 3_prime_UTR_variant MELA-AU 3 47376266 47376266 single base substitution C T exon_variant MELA-AU 3 47376266 47376266 single base substitution C T synonymous_variant S173S 519C>T MELA-AU 3 47376266 47376266 single base substitution C T synonymous_variant S285S 855C>T MELA-AU 3 47376360 47376360 single base substitution G A intron_variant MELA-AU 3 47376399 47376399 single base substitution C T intron_variant MELA-AU 3 47377743 47377743 single base substitution T C intron_variant MELA-AU 3 47378440 47378440 single base substitution C T exon_variant MELA-AU 3 47378440 47378440 single base substitution C T intron_variant MELA-AU 3 47378441 47378441 single base substitution C T exon_variant MELA-AU 3 47378441 47378441 single base substitution C T intron_variant MELA-AU 3 47378568 47378568 single base substitution C T exon_variant MELA-AU 3 47378568 47378568 single base substitution C T intron_variant MELA-AU 3 47378921 47378921 single base substitution C T exon_variant MELA-AU 3 47378921 47378921 single base substitution C T intron_variant MELA-AU 3 47379274 47379274 single base substitution C T exon_variant MELA-AU 3 47379274 47379274 single base substitution C T intron_variant MELA-AU 3 47379275 47379275 single base substitution C T exon_variant MELA-AU 3 47379275 47379275 single base substitution C T intron_variant MELA-AU 3 47379470 47379470 single base substitution C T exon_variant MELA-AU 3 47379470 47379470 single base substitution C T intron_variant MELA-AU 3 47379472 47379472 single base substitution C T exon_variant MELA-AU 3 47379472 47379472 single base substitution C T intron_variant MELA-AU 3 47379855 47379855 single base substitution C T exon_variant MELA-AU 3 47379855 47379855 single base substitution C T intron_variant MELA-AU 3 47380250 47380250 single base substitution T C exon_variant MELA-AU 3 47380250 47380250 single base substitution T C intron_variant MELA-AU 3 47380267 47380267 single base substitution C T exon_variant MELA-AU 3 47380267 47380267 single base substitution C T intron_variant MELA-AU 3 47380379 47380379 single base substitution C T downstream_gene_variant MELA-AU 3 47380379 47380379 single base substitution C T intron_variant MELA-AU 3 47382182 47382182 single base substitution C T downstream_gene_variant MELA-AU 3 47382182 47382182 single base substitution C T intron_variant MELA-AU 3 47382249 47382249 single base substitution G C downstream_gene_variant MELA-AU 3 47382249 47382249 single base substitution G C intron_variant MELA-AU 3 47382395 47382395 single base substitution T A downstream_gene_variant MELA-AU 3 47382395 47382395 single base substitution T A intron_variant MELA-AU 3 47382625 47382625 single base substitution C T downstream_gene_variant MELA-AU 3 47382625 47382625 single base substitution C T intron_variant MELA-AU 3 47382769 47382769 single base substitution T C downstream_gene_variant MELA-AU 3 47382769 47382769 single base substitution T C intron_variant MELA-AU 3 47382997 47382997 single base substitution C T downstream_gene_variant MELA-AU 3 47382997 47382997 single base substitution C T intron_variant MELA-AU 3 47383075 47383075 single base substitution T C downstream_gene_variant MELA-AU 3 47383075 47383075 single base substitution T C intron_variant MELA-AU 3 47383151 47383151 single base substitution C A downstream_gene_variant MELA-AU 3 47383151 47383151 single base substitution C A intron_variant MELA-AU 3 47383284 47383284 single base substitution A T downstream_gene_variant MELA-AU 3 47383284 47383284 single base substitution A T intron_variant MELA-AU 3 47383704 47383704 single base substitution G A downstream_gene_variant MELA-AU 3 47383704 47383704 single base substitution G A intron_variant MELA-AU 3 47383821 47383821 single base substitution C T downstream_gene_variant MELA-AU 3 47383821 47383821 single base substitution C T intron_variant MELA-AU 3 47384257 47384257 single base substitution T A 3_prime_UTR_variant MELA-AU 3 47384257 47384257 single base substitution T A downstream_gene_variant MELA-AU 3 47384257 47384257 single base substitution T A synonymous_variant V313V 939T>A MELA-AU 3 47384257 47384257 single base substitution T A synonymous_variant V425V 1275T>A MELA-AU 3 47384311 47384311 single base substitution C T 3_prime_UTR_variant MELA-AU 3 47384311 47384311 single base substitution C T downstream_gene_variant MELA-AU 3 47384311 47384311 single base substitution C T synonymous_variant I331I 993C>T MELA-AU 3 47384311 47384311 single base substitution C T synonymous_variant I443I 1329C>T MELA-AU 3 47385034 47385034 single base substitution C T downstream_gene_variant MELA-AU 3 47385034 47385034 single base substitution C T intron_variant MELA-AU 3 47386279 47386280 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 47386279 47386280 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 47386762 47386762 single base substitution C T 3_prime_UTR_variant MELA-AU 3 47386762 47386762 single base substitution C T downstream_gene_variant MELA-AU 3 47387206 47387206 single base substitution C T 3_prime_UTR_variant MELA-AU 3 47387206 47387206 single base substitution C T downstream_gene_variant MELA-AU 3 47387275 47387275 single base substitution C T 3_prime_UTR_variant MELA-AU 3 47387275 47387275 single base substitution C T downstream_gene_variant MELA-AU 3 47387747 47387747 single base substitution C T 3_prime_UTR_variant MELA-AU 3 47387747 47387747 single base substitution C T downstream_gene_variant MELA-AU 3 47387787 47387787 single base substitution C T 3_prime_UTR_variant MELA-AU 3 47387787 47387787 single base substitution C T downstream_gene_variant MELA-AU 3 47388316 47388316 single base substitution C T downstream_gene_variant MELA-AU 3 47388790 47388790 single base substitution C G downstream_gene_variant MELA-AU 3 47389887 47389887 single base substitution G A downstream_gene_variant MELA-AU 3 47390132 47390132 single base substitution C T downstream_gene_variant MELA-AU 3 47390258 47390258 single base substitution T C downstream_gene_variant MELA-AU 3 47390267 47390267 single base substitution C T downstream_gene_variant MELA-AU 3 47390567 47390567 single base substitution A G downstream_gene_variant MELA-AU 3 47390610 47390610 single base substitution T C downstream_gene_variant MELA-AU 3 47391185 47391185 single base substitution C T downstream_gene_variant MELA-AU 3 47391672 47391672 single base substitution T A downstream_gene_variant MELA-AU 3 47391734 47391734 single base substitution C A downstream_gene_variant MELA-AU 3 47392269 47392269 single base substitution C T downstream_gene_variant MELA-AU 3 47392517 47392517 single base substitution C T downstream_gene_variant MELA-AU 3 47392769 47392769 single base substitution C T downstream_gene_variant ORCA-IN 3 47336058 47336058 single base substitution G T intron_variant ORCA-IN 3 47348323 47348323 single base substitution G T intron_variant ORCA-IN 3 47352798 47352798 single base substitution C G intron_variant ORCA-IN 3 47361082 47361082 deletion of <=200bp G - intron_variant ORCA-IN 3 47368352 47368352 single base substitution G A downstream_gene_variant ORCA-IN 3 47368352 47368352 single base substitution G A intron_variant OV-AU 3 47325745 47325745 single base substitution A T intron_variant OV-AU 3 47335980 47335980 single base substitution C A intron_variant OV-AU 3 47339315 47339315 single base substitution C T intron_variant OV-AU 3 47348488 47348488 single base substitution T G intron_variant OV-AU 3 47349488 47349488 single base substitution T G intron_variant OV-AU 3 47357961 47357961 single base substitution A C intron_variant OV-AU 3 47366995 47366995 single base substitution A G downstream_gene_variant OV-AU 3 47366995 47366995 single base substitution A G intron_variant OV-AU 3 47378872 47378872 single base substitution G C exon_variant OV-AU 3 47378872 47378872 single base substitution G C intron_variant OV-AU 3 47390577 47390577 single base substitution C T downstream_gene_variant PACA-AU 3 47325745 47325745 single base substitution A T intron_variant PACA-AU 3 47333158 47333158 single base substitution G C downstream_gene_variant PACA-AU 3 47333158 47333158 single base substitution G C intron_variant PACA-AU 3 47358137 47358137 single base substitution G A intron_variant PACA-AU 3 47358161 47358161 single base substitution A G intron_variant PACA-AU 3 47368910 47368910 single base substitution C T downstream_gene_variant PACA-AU 3 47368910 47368910 single base substitution C T intron_variant PACA-AU 3 47376141 47376141 single base substitution C T intron_variant PACA-AU 3 47378097 47378097 single base substitution C A 3_prime_UTR_variant PACA-AU 3 47378097 47378097 single base substitution C A exon_variant PACA-AU 3 47378097 47378097 single base substitution C A missense_variant T212K 635C>A PACA-AU 3 47378097 47378097 single base substitution C A missense_variant T324K 971C>A PACA-AU 3 47386256 47386256 single base substitution C T 3_prime_UTR_variant PACA-AU 3 47386256 47386256 single base substitution C T downstream_gene_variant PACA-AU 3 47386676 47386676 single base substitution G A 3_prime_UTR_variant PACA-AU 3 47386676 47386676 single base substitution G A downstream_gene_variant PACA-CA 3 47320044 47320044 single base substitution G A upstream_gene_variant PACA-CA 3 47320354 47320354 single base substitution C A upstream_gene_variant PACA-CA 3 47320355 47320355 single base substitution A G upstream_gene_variant PACA-CA 3 47322675 47322675 single base substitution T A upstream_gene_variant PACA-CA 3 47328025 47328025 single base substitution C T intron_variant PACA-CA 3 47334317 47334317 single base substitution G T intron_variant PACA-CA 3 47335363 47335363 single base substitution G C intron_variant PACA-CA 3 47336665 47336665 single base substitution C T intron_variant PACA-CA 3 47338148 47338148 single base substitution T C intron_variant PACA-CA 3 47340289 47340289 single base substitution G A intron_variant PACA-CA 3 47341869 47341869 single base substitution A G intron_variant PACA-CA 3 47345194 47345194 single base substitution G T intron_variant PACA-CA 3 47355993 47355993 single base substitution C T intron_variant PACA-CA 3 47358281 47358281 insertion of <=200bp - TATA intron_variant PACA-CA 3 47359360 47359360 single base substitution A T intron_variant PACA-CA 3 47366170 47366170 single base substitution T A downstream_gene_variant PACA-CA 3 47366170 47366170 single base substitution T A intron_variant PACA-CA 3 47367812 47367812 single base substitution A C downstream_gene_variant PACA-CA 3 47367812 47367812 single base substitution A C intron_variant PACA-CA 3 47374092 47374092 insertion of <=200bp - G intron_variant PACA-CA 3 47377457 47377457 single base substitution G T intron_variant PACA-CA 3 47380140 47380140 single base substitution T C exon_variant PACA-CA 3 47380140 47380140 single base substitution T C intron_variant PACA-CA 3 47383769 47383769 single base substitution G T downstream_gene_variant PACA-CA 3 47383769 47383769 single base substitution G T intron_variant PACA-CA 3 47390172 47390172 single base substitution C T downstream_gene_variant PACA-CA 3 47392169 47392169 single base substitution G A downstream_gene_variant PACA-CA 3 47392288 47392288 single base substitution T G downstream_gene_variant PACA-CA 3 47393088 47393088 single base substitution T C downstream_gene_variant PAEN-AU 3 47323947 47323947 single base substitution C T upstream_gene_variant PAEN-AU 3 47392257 47392257 single base substitution G A downstream_gene_variant PBCA-DE 3 47326629 47326629 single base substitution A G intron_variant PBCA-DE 3 47326714 47326714 single base substitution T G intron_variant PBCA-DE 3 47355545 47355545 single base substitution C T intron_variant PBCA-DE 3 47360877 47360878 deletion of <=200bp AG - intron_variant PBCA-DE 3 47360919 47360919 deletion of <=200bp A - intron_variant PRAD-CA 3 47337516 47337516 single base substitution C G intron_variant PRAD-CA 3 47341610 47341610 single base substitution G A intron_variant PRAD-CA 3 47343090 47343090 single base substitution A G intron_variant PRAD-CA 3 47355361 47355361 single base substitution A G intron_variant PRAD-CA 3 47358087 47358087 single base substitution A G intron_variant PRAD-CA 3 47358417 47358417 single base substitution A T intron_variant PRAD-CA 3 47358785 47358785 single base substitution G A intron_variant PRAD-UK 3 47323144 47323144 single base substitution C G upstream_gene_variant PRAD-UK 3 47337666 47337666 single base substitution G T intron_variant PRAD-UK 3 47339497 47339497 single base substitution A C intron_variant PRAD-UK 3 47344101 47344101 single base substitution G A intron_variant PRAD-UK 3 47378149 47378149 single base substitution C T 3_prime_UTR_variant PRAD-UK 3 47378149 47378149 single base substitution C T exon_variant PRAD-UK 3 47378149 47378149 single base substitution C T synonymous_variant I229I 687C>T PRAD-UK 3 47378149 47378149 single base substitution C T synonymous_variant I341I 1023C>T PRAD-UK 3 47384455 47384455 single base substitution C T downstream_gene_variant PRAD-UK 3 47384455 47384455 single base substitution C T intron_variant PRAD-UK 3 47385713 47385713 single base substitution C T 3_prime_UTR_variant PRAD-US 3 47361170 47361170 single base substitution C T 3_prime_UTR_variant PRAD-US 3 47361170 47361170 single base substitution C T exon_variant PRAD-US 3 47361170 47361170 single base substitution C T intron_variant PRAD-US 3 47361170 47361170 single base substitution C T missense_variant R53W 157C>T READ-US 3 47378053 47378053 single base substitution C T 3_prime_UTR_variant READ-US 3 47378053 47378053 single base substitution C T exon_variant READ-US 3 47378053 47378053 single base substitution C T synonymous_variant F197F 591C>T READ-US 3 47378053 47378053 single base substitution C T synonymous_variant F309F 927C>T READ-US 3 47385056 47385056 single base substitution C T 3_prime_UTR_variant READ-US 3 47385056 47385056 single base substitution C T downstream_gene_variant READ-US 3 47385056 47385056 single base substitution C T synonymous_variant Y338Y 1014C>T READ-US 3 47385056 47385056 single base substitution C T synonymous_variant Y450Y 1350C>T RECA-EU 3 47338405 47338405 single base substitution T C intron_variant RECA-EU 3 47391274 47391274 single base substitution T C downstream_gene_variant SKCA-BR 3 47320397 47320397 single base substitution G A upstream_gene_variant SKCA-BR 3 47325827 47325827 insertion of <=200bp - CTT intron_variant SKCA-BR 3 47325857 47325857 single base substitution C T intron_variant SKCA-BR 3 47327797 47327797 single base substitution G A intron_variant SKCA-BR 3 47328942 47328946 deletion of <=200bp AGTGT - exon_variant SKCA-BR 3 47328942 47328946 deletion of <=200bp AGTGT - intron_variant SKCA-BR 3 47329478 47329478 single base substitution C T downstream_gene_variant SKCA-BR 3 47329478 47329478 single base substitution C T intron_variant SKCA-BR 3 47330149 47330149 single base substitution G A downstream_gene_variant SKCA-BR 3 47330149 47330149 single base substitution G A intron_variant SKCA-BR 3 47331108 47331108 single base substitution C T downstream_gene_variant SKCA-BR 3 47331108 47331108 single base substitution C T intron_variant SKCA-BR 3 47331136 47331136 single base substitution C T downstream_gene_variant SKCA-BR 3 47331136 47331136 single base substitution C T intron_variant SKCA-BR 3 47331822 47331822 single base substitution C A downstream_gene_variant SKCA-BR 3 47331822 47331822 single base substitution C A intron_variant SKCA-BR 3 47334394 47334395 deletion of <=200bp CA - intron_variant SKCA-BR 3 47337907 47337907 single base substitution C T intron_variant SKCA-BR 3 47338619 47338619 single base substitution C T intron_variant SKCA-BR 3 47343075 47343075 single base substitution C T intron_variant SKCA-BR 3 47345822 47345822 single base substitution C T intron_variant SKCA-BR 3 47347412 47347412 single base substitution G A intron_variant SKCA-BR 3 47347413 47347413 single base substitution G A intron_variant SKCA-BR 3 47348377 47348377 single base substitution T C intron_variant SKCA-BR 3 47354395 47354395 insertion of <=200bp - AT intron_variant SKCA-BR 3 47354395 47354396 deletion of <=200bp AT - intron_variant SKCA-BR 3 47355981 47355981 insertion of <=200bp - CT intron_variant SKCA-BR 3 47358067 47358067 single base substitution A G intron_variant SKCA-BR 3 47358161 47358161 single base substitution A G intron_variant SKCA-BR 3 47358173 47358173 insertion of <=200bp - GTATATA intron_variant SKCA-BR 3 47358203 47358211 deletion of <=200bp ATGTATATG - intron_variant SKCA-BR 3 47358247 47358249 deletion of <=200bp ATG - intron_variant SKCA-BR 3 47358305 47358305 single base substitution A T intron_variant SKCA-BR 3 47359262 47359262 single base substitution G T intron_variant SKCA-BR 3 47362048 47362048 single base substitution T C intron_variant SKCA-BR 3 47362223 47362223 single base substitution C A intron_variant SKCA-BR 3 47364452 47364452 single base substitution T C downstream_gene_variant SKCA-BR 3 47364452 47364452 single base substitution T C intron_variant SKCA-BR 3 47364467 47364467 single base substitution A C downstream_gene_variant SKCA-BR 3 47364467 47364467 single base substitution A C intron_variant SKCA-BR 3 47366157 47366158 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 3 47366157 47366158 deletion of <=200bp TA - intron_variant SKCA-BR 3 47366167 47366167 single base substitution A G downstream_gene_variant SKCA-BR 3 47366167 47366167 single base substitution A G intron_variant SKCA-BR 3 47366447 47366447 single base substitution T C downstream_gene_variant SKCA-BR 3 47366447 47366447 single base substitution T C intron_variant SKCA-BR 3 47367763 47367763 single base substitution C T downstream_gene_variant SKCA-BR 3 47367763 47367763 single base substitution C T intron_variant SKCA-BR 3 47368002 47368002 single base substitution T G downstream_gene_variant SKCA-BR 3 47368002 47368002 single base substitution T G intron_variant SKCA-BR 3 47370645 47370645 insertion of <=200bp - GA intron_variant SKCA-BR 3 47373542 47373542 single base substitution T C intron_variant SKCA-BR 3 47374092 47374092 single base substitution C G intron_variant SKCA-BR 3 47375652 47375652 single base substitution T G intron_variant SKCA-BR 3 47375955 47375955 single base substitution G A intron_variant SKCA-BR 3 47378362 47378362 single base substitution C T exon_variant SKCA-BR 3 47378362 47378362 single base substitution C T intron_variant SKCA-BR 3 47385585 47385585 single base substitution C A 3_prime_UTR_variant SKCA-BR 3 47386059 47386059 insertion of <=200bp - TC 3_prime_UTR_variant SKCA-BR 3 47391274 47391274 single base substitution T C downstream_gene_variant SKCM-US 3 47361177 47361177 single base substitution T C 3_prime_UTR_variant SKCM-US 3 47361177 47361177 single base substitution T C exon_variant SKCM-US 3 47361177 47361177 single base substitution T C intron_variant SKCM-US 3 47361177 47361177 single base substitution T C missense_variant V55A 164T>C SKCM-US 3 47361193 47361193 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47361193 47361193 single base substitution C T exon_variant SKCM-US 3 47361193 47361193 single base substitution C T intron_variant SKCM-US 3 47361193 47361193 single base substitution C T synonymous_variant I60I 180C>T SKCM-US 3 47361202 47361202 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47361202 47361202 single base substitution C T exon_variant SKCM-US 3 47361202 47361202 single base substitution C T intron_variant SKCM-US 3 47361202 47361202 single base substitution C T synonymous_variant F63F 189C>T SKCM-US 3 47371532 47371532 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47371532 47371532 single base substitution C T exon_variant SKCM-US 3 47371532 47371532 single base substitution C T stop_gained Q165* 493C>T SKCM-US 3 47371532 47371532 single base substitution C T stop_gained Q53* 157C>T SKCM-US 3 47371546 47371546 single base substitution G A 3_prime_UTR_variant SKCM-US 3 47371546 47371546 single base substitution G A exon_variant SKCM-US 3 47371546 47371546 single base substitution G A synonymous_variant E169E 507G>A SKCM-US 3 47371546 47371546 single base substitution G A synonymous_variant E57E 171G>A SKCM-US 3 47371567 47371567 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47371567 47371567 single base substitution C T exon_variant SKCM-US 3 47371567 47371567 single base substitution C T synonymous_variant F176F 528C>T SKCM-US 3 47371567 47371567 single base substitution C T synonymous_variant F64F 192C>T SKCM-US 3 47371613 47371613 single base substitution G A 3_prime_UTR_variant SKCM-US 3 47371613 47371613 single base substitution G A exon_variant SKCM-US 3 47371613 47371613 single base substitution G A missense_variant E192K 574G>A SKCM-US 3 47371613 47371613 single base substitution G A missense_variant E80K 238G>A SKCM-US 3 47374649 47374649 single base substitution C T splice_region_variant SKCM-US 3 47374698 47374698 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47374698 47374698 single base substitution C T exon_variant SKCM-US 3 47374698 47374698 single base substitution C T missense_variant P106S 316C>T SKCM-US 3 47374698 47374698 single base substitution C T missense_variant P218S 652C>T SKCM-US 3 47374755 47374755 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47374755 47374755 single base substitution C T exon_variant SKCM-US 3 47374755 47374755 single base substitution C T missense_variant L125F 373C>T SKCM-US 3 47374755 47374755 single base substitution C T missense_variant L237F 709C>T SKCM-US 3 47376274 47376274 single base substitution G A 3_prime_UTR_variant SKCM-US 3 47376274 47376274 single base substitution G A exon_variant SKCM-US 3 47376274 47376274 single base substitution G A missense_variant G176E 527G>A SKCM-US 3 47376274 47376274 single base substitution G A missense_variant G288E 863G>A SKCM-US 3 47384223 47384223 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47384223 47384223 single base substitution C T downstream_gene_variant SKCM-US 3 47384223 47384223 single base substitution C T missense_variant T302I 905C>T SKCM-US 3 47384223 47384223 single base substitution C T missense_variant T414I 1241C>T SKCM-US 3 47385128 47385128 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47385128 47385128 single base substitution C T downstream_gene_variant SKCM-US 3 47385128 47385128 single base substitution C T synonymous_variant S362S 1086C>T SKCM-US 3 47385128 47385128 single base substitution C T synonymous_variant S474S 1422C>T SKCM-US 3 47385231 47385231 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47385231 47385231 single base substitution C T downstream_gene_variant SKCM-US 3 47385231 47385231 single base substitution C T missense_variant P397S 1189C>T SKCM-US 3 47385231 47385231 single base substitution C T missense_variant P509S 1525C>T SKCM-US 3 47385374 47385374 single base substitution C T 3_prime_UTR_variant SKCM-US 3 47385374 47385374 single base substitution C T synonymous_variant P444P 1332C>T SKCM-US 3 47385374 47385374 single base substitution C T synonymous_variant P556P 1668C>T STAD-US 3 47364083 47364083 single base substitution G T 3_prime_UTR_variant STAD-US 3 47364083 47364083 single base substitution G T 5_prime_UTR_variant STAD-US 3 47364083 47364083 single base substitution G T exon_variant STAD-US 3 47364083 47364083 single base substitution G T missense_variant A96S 286G>T STAD-US 3 47378106 47378106 single base substitution G T 3_prime_UTR_variant STAD-US 3 47378106 47378106 single base substitution G T exon_variant STAD-US 3 47378106 47378106 single base substitution G T missense_variant S215I 644G>T STAD-US 3 47378106 47378106 single base substitution G T missense_variant S327I 980G>T STAD-US 3 47378108 47378108 single base substitution C T 3_prime_UTR_variant STAD-US 3 47378108 47378108 single base substitution C T exon_variant STAD-US 3 47378108 47378108 single base substitution C T missense_variant R216C 646C>T STAD-US 3 47378108 47378108 single base substitution C T missense_variant R328C 982C>T STAD-US 3 47378111 47378111 single base substitution G A 3_prime_UTR_variant STAD-US 3 47378111 47378111 single base substitution G A exon_variant STAD-US 3 47378111 47378111 single base substitution G A missense_variant V217I 649G>A STAD-US 3 47378111 47378111 single base substitution G A missense_variant V329I 985G>A STAD-US 3 47378131 47378131 single base substitution C T 3_prime_UTR_variant STAD-US 3 47378131 47378131 single base substitution C T exon_variant STAD-US 3 47378131 47378131 single base substitution C T synonymous_variant N223N 669C>T STAD-US 3 47378131 47378131 single base substitution C T synonymous_variant N335N 1005C>T STAD-US 3 47378200 47378200 single base substitution G A 3_prime_UTR_variant STAD-US 3 47378200 47378200 single base substitution G A exon_variant STAD-US 3 47378200 47378200 single base substitution G A synonymous_variant P246P 738G>A STAD-US 3 47378200 47378200 single base substitution G A synonymous_variant P358P 1074G>A STAD-US 3 47378211 47378211 single base substitution C T 3_prime_UTR_variant STAD-US 3 47378211 47378211 single base substitution C T exon_variant STAD-US 3 47378211 47378211 single base substitution C T missense_variant T250I 749C>T STAD-US 3 47378211 47378211 single base substitution C T missense_variant T362I 1085C>T STAD-US 3 47385423 47385423 single base substitution A G 3_prime_UTR_variant STAD-US 3 47385423 47385423 single base substitution A G missense_variant T461A 1381A>G STAD-US 3 47385423 47385423 single base substitution A G missense_variant T573A 1717A>G UCEC-US 3 47361148 47361148 single base substitution G A 3_prime_UTR_variant UCEC-US 3 47361148 47361148 single base substitution G A exon_variant UCEC-US 3 47361148 47361148 single base substitution G A intron_variant UCEC-US 3 47361148 47361148 single base substitution G A synonymous_variant G45G 135G>A UCEC-US 3 47364188 47364188 single base substitution C A 3_prime_UTR_variant UCEC-US 3 47364188 47364188 single base substitution C A exon_variant UCEC-US 3 47364188 47364188 single base substitution C A missense_variant L131I 391C>A UCEC-US 3 47364188 47364188 single base substitution C A missense_variant L19I 55C>A UCEC-US 3 47378196 47378196 single base substitution A G 3_prime_UTR_variant UCEC-US 3 47378196 47378196 single base substitution A G exon_variant UCEC-US 3 47378196 47378196 single base substitution A G missense_variant N245S 734A>G UCEC-US 3 47378196 47378196 single base substitution A G missense_variant N357S 1070A>G UCEC-US 3 47384290 47384290 single base substitution C T 3_prime_UTR_variant UCEC-US 3 47384290 47384290 single base substitution C T downstream_gene_variant UCEC-US 3 47384290 47384290 single base substitution C T synonymous_variant G324G 972C>T UCEC-US 3 47384290 47384290 single base substitution C T synonymous_variant G436G 1308C>T UCEC-US 3 47385136 47385136 single base substitution G A 3_prime_UTR_variant UCEC-US 3 47385136 47385136 single base substitution G A downstream_gene_variant UCEC-US 3 47385136 47385136 single base substitution G A missense_variant S365N 1094G>A UCEC-US 3 47385136 47385136 single base substitution G A missense_variant S477N 1430G>A UCEC-US 3 47385140 47385140 single base substitution G T 3_prime_UTR_variant UCEC-US 3 47385140 47385140 single base substitution G T downstream_gene_variant UCEC-US 3 47385140 47385140 single base substitution G T missense_variant K366N 1098G>T UCEC-US 3 47385140 47385140 single base substitution G T missense_variant K478N 1434G>T UCEC-US 3 47385167 47385167 single base substitution C A 3_prime_UTR_variant UCEC-US 3 47385167 47385167 single base substitution C A downstream_gene_variant UCEC-US 3 47385167 47385167 single base substitution C A synonymous_variant G375G 1125C>A UCEC-US 3 47385167 47385167 single base substitution C A synonymous_variant G487G 1461C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PT40 COSM5923643 c.1532A>T p.H511L Substitution - Missense 3:47343748-47343748 + EV001-R8 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + EV001-M2b COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + TCGA-EE-A20H-06 COSM3594746 c.652C>T p.P218S Substitution - Missense 3:47333208-47333208 + TCGA-D9-A3Z1-06 COSM3594749 c.1422C>T p.S474S Substitution - coding silent 3:47343638-47343638 + TCGA-CM-5861-01 COSM1423588 c.717C>T p.D239D Substitution - coding silent 3:47333273-47333273 + 1004 COSM5730464 c.383G>T p.C128F Substitution - Missense 3:47322690-47322690 + TCGA-EI-6510-01 COSM1566753 c.1350C>T p.Y450Y Substitution - coding silent 3:47343566-47343566 + TCGA-AX-A0IU-01 COSM1045556 c.1430G>A p.S477N Substitution - Missense 3:47343646-47343646 + LUAD-NYU195 COSM371140 c.1045C>T p.R349W Substitution - Missense 3:47336681-47336681 + sysucc-311T COSM5476977 c.680T>C p.I227T Substitution - Missense 3:47333236-47333236 + CSCC-27-T COSM4468899 c.156C>T p.H52H Substitution - coding silent 3:47319679-47319679 + Pat_01_A COSM5864649 c.64A>T p.S22C Substitution - Missense 3:47283029-47283029 + A673 COSM4584405 c.8A>C p.E3A Substitution - Missense 3:47282973-47282973 + LUAD-S01315 COSM345532 c.229G>A p.D77N Substitution - Missense 3:47319752-47319752 + Sample_1 COSM5021392 c.261-8T>C p.? Unknown 3:47322560-47322560 + 421 COSM4432224 c.1410C>T p.H470H Substitution - coding silent 3:47343626-47343626 + T2950 COSM4644540 c.1573C>T p.R525C Substitution - Missense 3:47343789-47343789 + TCGA-CD-5800-01 COSM4118041 c.1074G>A p.P358P Substitution - coding silent 3:47336710-47336710 + SC_9038 COSM5564479 c.430C>T p.R144C Substitution - Missense 3:47329979-47329979 + Pat_24_B COSM5864650 c.1159G>A p.V387I Substitution - Missense 3:47340609-47340609 + TCGA-CD-A4MJ-01 COSM4118043 c.1717A>G p.T573A Substitution - Missense 3:47343933-47343933 + TCGA-EK-A2R9-01 COSM176939 c.394C>T p.R132* Substitution - Nonsense 3:47322701-47322701 + TCGA-DB-A4XH-01 COSM3974442 c.1279G>A p.V427I Substitution - Missense 3:47342771-47342771 + T4 COSM5344490 c.1720A>G p.I574V Substitution - Missense 3:47343936-47343936 + TCGA-B5-A11N-01 COSM1045552 c.135G>A p.G45G Substitution - coding silent 3:47319658-47319658 + TCGA-D1-A103-01 COSM1045558 c.1461C>A p.G487G Substitution - coding silent 3:47343677-47343677 + 2521244 COSM5887255 c.439G>T p.A147S Substitution - Missense 3:47329988-47329988 + HN_63080 COSM124002 c.1412G>A p.G471E Substitution - Missense 3:47343628-47343628 + TCGA-EE-A29E-06 COSM3594749 c.1422C>T p.S474S Substitution - coding silent 3:47343638-47343638 + TCGA-AA-3715-01 COSM269464 c.1417G>A p.A473T Substitution - Missense 3:47343633-47343633 + HCC054T COSM5809609 c.4G>A p.V2M Substitution - Missense 3:47282969-47282969 + PD6727b COSM5774816 c.469G>C p.D157H Substitution - Missense 3:47330018-47330018 + TCGA-BP-5190-01 COSM480190 c.835C>A p.R279R Substitution - coding silent 3:47334756-47334756 + EV001-M1 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + TCGA-DK-A3WW-01 COSM3775079 c.1285G>C p.E429Q Substitution - Missense 3:47342777-47342777 + CSCC-20-T COSM4527222 c.1449G>A p.G483G Substitution - coding silent 3:47343665-47343665 + 759_T COSM3945529 c.1536G>T p.T512T Substitution - coding silent 3:47343752-47343752 + T2940 COSM4696477 c.1602A>G p.G534G Substitution - coding silent 3:47343818-47343818 + SW1463 COSM3069307 c.549C>T p.D183D Substitution - coding silent 3:47330098-47330098 + TCGA-FS-A1ZZ-06 COSM3594750 c.1668C>T p.P556P Substitution - coding silent 3:47343884-47343884 + S02299 COSM5690663 c.1548G>C p.R516R Substitution - coding silent 3:47343764-47343764 + SW48 COSM3069329 c.1538G>A p.R513H Substitution - Missense 3:47343754-47343754 + TCGA-56-6546-01 COSM730701 c.528C>T p.F176F Substitution - coding silent 3:47330077-47330077 + I2L-P19Ta-Tumor-Biopsy COSM4644540 c.1573C>T p.R525C Substitution - Missense 3:47343789-47343789 + 587278 COSM1212617 c.158G>A p.R53Q Substitution - Missense 3:47319681-47319681 + TCGA-ER-A19E-06 COSM3594741 c.164T>C p.V55A Substitution - Missense 3:47319687-47319687 + EV001-R9 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + TCGA-A2-A0T5-01 COSM3824023 c.41A>C p.H14P Substitution - Missense 3:47283006-47283006 + CSCC-56-T COSM4516067 c.1553_1554CC>TT p.S518F Substitution - Missense 3:47343769-47343770 + TCGA-AP-A051-01 COSM1045555 c.1308C>T p.G436G Substitution - coding silent 3:47342800-47342800 + 3N26-VS-3T26 COSM4980163 c.126C>G p.L42L Substitution - coding silent 3:47283091-47283091 + TCGA-EE-A20C-06 COSM3594745 c.574G>A p.E192K Substitution - Missense 3:47330123-47330123 + DLD1 COSM1045553 c.391C>A p.L131I Substitution - Missense 3:47322698-47322698 + TCGA-CH-5791-01 COSM1131421 c.855C>A p.S285S Substitution - coding silent 3:47334776-47334776 + TCGA-BR-8360-01 COSM4118039 c.982C>T p.R328C Substitution - Missense 3:47336618-47336618 + PC-3 COSM1670137 c.1157A>G p.Y386C Substitution - Missense 3:47340607-47340607 + TCGA-D7-6820-01 COSM4118037 c.286G>T p.A96S Substitution - Missense 3:47322593-47322593 + TCGA-AA-3663-01 COSM1423587 c.355C>T p.Q119* Substitution - Nonsense 3:47322662-47322662 + TCGA-EE-A29M-06 COSM3594742 c.180C>T p.I60I Substitution - coding silent 3:47319703-47319703 + ESO-859 COSM1239275 c.1067A>G p.Y356C Substitution - Missense 3:47336703-47336703 + TCGA-DD-A11A-01 COSM4940475 c.452T>C p.M151T Substitution - Missense 3:47330001-47330001 + TCGA-AP-A0LM-01 COSM1045553 c.391C>A p.L131I Substitution - Missense 3:47322698-47322698 + TCGA-E2-A10C-01 COSM446623 c.1542G>A p.R514R Substitution - coding silent 3:47343758-47343758 + SC_9054 COSM5555045 c.71G>A p.G24D Substitution - Missense 3:47283036-47283036 + Pat_24_A COSM5864652 c.1273G>A p.V425I Substitution - Missense 3:47342765-47342765 + CHC2141T COSM4790162 c.1337G>A p.S446N Substitution - Missense 3:47342829-47342829 + TCGA-A4-A6HP-01 COSM3993112 c.666G>T p.E222D Substitution - Missense 3:47333222-47333222 + TCGA-LP-A5U2-01 COSM4833832 c.1244C>T p.S415L Substitution - Missense 3:47342736-47342736 + 18 COSM5744770 c.1036G>A p.G346S Substitution - Missense 3:47336672-47336672 + 01-P459 COSM3069312 c.858C>T p.I286I Substitution - coding silent 3:47334779-47334779 + TCGA-AA-3492-01 COSM1423589 c.842G>A p.R281H Substitution - Missense 3:47334763-47334763 + 2150 COSM3069308 c.743G>A p.R248H Substitution - Missense 3:47333299-47333299 + TCGA-60-2726-01 COSM730700 c.657C>T p.Y219Y Substitution - coding silent 3:47333213-47333213 + CHC2141T COSM4790162 c.1337G>A p.S446N Substitution - Missense 3:47342829-47342829 + 71M COSM5595871 c.93C>T p.I31I Substitution - coding silent 3:47283058-47283058 + TCGA-EB-A5SG-06 COSM3916179 c.603C>T p.V201V Substitution - coding silent 3:47333159-47333159 + YUHEF COSM1692713 c.854C>T p.S285F Substitution - Missense 3:47334775-47334775 + CHC1626T COSM4791617 c.1135G>T p.V379F Substitution - Missense 3:47340585-47340585 + TCGA-AA-3692-01 COSM293263 c.304G>T p.A102S Substitution - Missense 3:47322611-47322611 + 3N09-VS-3T09 COSM4979252 c.1216G>A p.E406K Substitution - Missense 3:47340666-47340666 + TCGA-FS-A1ZZ-06 COSM730701 c.528C>T p.F176F Substitution - coding silent 3:47330077-47330077 + HN_62506 COSM128342 c.1551C>A p.V517V Substitution - coding silent 3:47343767-47343767 + TCGA-HU-A4GQ-01 COSM4118042 c.1085C>T p.T362I Substitution - Missense 3:47336721-47336721 + TCGA-FW-A3R5-06 COSM3916180 c.1241C>T p.T414I Substitution - Missense 3:47342733-47342733 + TCGA-EI-6917-01 COSM3427666 c.927C>T p.F309F Substitution - coding silent 3:47336563-47336563 + ESCC_57 COSM5632398 c.274C>T p.L92L Substitution - coding silent 3:47322581-47322581 + EV001-R4 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + PD11340a COSM5801226 c.274_294>CTAG p.I93fs*6 Complex - frameshift 3:47322581-47322601 + TCGA-HJ-7597-01 COSM4118040 c.985G>A p.V329I Substitution - Missense 3:47336621-47336621 + TCGA-AP-A0LM-01 COSM1045557 c.1434G>T p.K478N Substitution - Missense 3:47343650-47343650 + TCGA-G3-A25V-01 COSM4914647 c.861T>C p.A287A Substitution - coding silent 3:47334782-47334782 + SNU-175 COSM3069312 c.858C>T p.I286I Substitution - coding silent 3:47334779-47334779 + EV001-R2 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + tumor_4198542 COSM5948171 c.1620A>G p.S540S Substitution - coding silent 3:47343836-47343836 + TCGA-EE-A3JD-06 COSM4394629 c.1525C>T p.P509S Substitution - Missense 3:47343741-47343741 + TCGA-FD-A3SO-01 COSM3775080 c.1518G>C p.L506L Substitution - coding silent 3:47343734-47343734 + T3064 COSM4696476 c.195_196delTA p.M66fs*4 Deletion - Frameshift 3:47319718-47319719 + BD217T COSM5495368 c.1356C>G p.H452Q Substitution - Missense 3:47343572-47343572 + Pat_41_B COSM5864651 c.1196C>T p.S399F Substitution - Missense 3:47340646-47340646 + OV207 COSM252570 c.400C>T p.R134W Substitution - Missense 3:47322707-47322707 + 0041_CRUK_PC_0041_T1_DNA COSM5422636 c.1023C>T p.I341I Substitution - coding silent 3:47336659-47336659 + EV001-R1 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + SW1417 COSM3069330 c.1562C>T p.A521V Substitution - Missense 3:47343778-47343778 + CSCC-54-T COSM4504006 c.653C>T p.P218L Substitution - Missense 3:47333209-47333209 + 61 COSM5736594 c.806G>A p.R269H Substitution - Missense 3:47334727-47334727 + SW48 COSM3069335 c.1687delG p.V564fs*>11 Deletion - Frameshift 3:47343903-47343903 + UM-SCC-4 COSM4599891 c.1283T>G p.F428C Substitution - Missense 3:47342775-47342775 + CHC1626T COSM4791617 c.1135G>T p.V379F Substitution - Missense 3:47340585-47340585 + TCGA-BH-A0B4-01 COSM446622 c.1153A>T p.I385F Substitution - Missense 3:47340603-47340603 + HDC54 COSM4636457 c.177G>T p.S59S Substitution - coding silent 3:47319700-47319700 + TCGA-E1-5302-01 COSM3974441 c.222C>T p.C74C Substitution - coding silent 3:47319745-47319745 + PD24318a COSM5768316 c.717C>G p.D239E Substitution - Missense 3:47333273-47333273 + TCGA-FW-A3R5-06 COSM3916178 c.493C>T p.Q165* Substitution - Nonsense 3:47330042-47330042 + EV001-R5 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + EV001-R3 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + TCGA-EB-A4IS-01 COSM3594747 c.709C>T p.L237F Substitution - Missense 3:47333265-47333265 + HT115 COSM3069319 c.1253C>T p.S418L Substitution - Missense 3:47342745-47342745 + TCGA-EB-A3Y7-01 COSM3594743 c.189C>T p.F63F Substitution - coding silent 3:47319712-47319712 + TCGA-A4-A6HP-01 COSM3993113 c.667C>A p.L223M Substitution - Missense 3:47333223-47333223 + TCGA-BR-8360-01 COSM4118038 c.980G>T p.S327I Substitution - Missense 3:47336616-47336616 + TCGA-ER-A19P-06 COSM3594748 c.863G>A p.G288E Substitution - Missense 3:47334784-47334784 + TCGA-FW-A3TU-06 COSM3594744 c.507G>A p.E169E Substitution - coding silent 3:47330056-47330056 + YUKLAB COSM1692712 c.181C>T p.P61S Substitution - Missense 3:47319704-47319704 + pfg144T COSM4754453 c.1304C>G p.S435* Substitution - Nonsense 3:47342796-47342796 + Pat_01_B COSM5864649 c.64A>T p.S22C Substitution - Missense 3:47283029-47283029 + ESCC_100 COSM5637894 c.1016_1017insT p.A340fs*6 Insertion - Frameshift 3:47336652-47336653 + TCGA-D1-A17D-01 COSM1045554 c.1070A>G p.N357S Substitution - Missense 3:47336706-47336706 + TCGA-DK-A1AC-01 COSM1309196 c.917T>C p.V306A Substitution - Missense 3:47336553-47336553 + 198T COSM1726557 c.507G>C p.E169D Substitution - Missense 3:47330056-47330056 + TCGA-CH-5751-01 COSM1131422 c.157C>T p.R53W Substitution - Missense 3:47319680-47319680 + TCGA-HU-A4G2-01 COSM3069317 c.1005C>T p.N335N Substitution - coding silent 3:47336641-47336641 + ESCC_170 COSM5649420 c.1184C>G p.S395C Substitution - Missense 3:47340634-47340634 + T3090 COSM3069325 c.1447G>A p.G483R Substitution - Missense 3:47343663-47343663 + 8066464 COSM3781643 c.971C>A p.T324K Substitution - Missense 3:47336607-47336607 + LIM2551 COSM4644540 c.1573C>T p.R525C Substitution - Missense 3:47343789-47343789 + TCGA-66-2783-01 COSM730699 c.983G>C p.R328P Substitution - Missense 3:47336619-47336619 + TCGA-66-2786-01 COSM730698 c.1211C>T p.S404L Substitution - Missense 3:47340661-47340661 + TCGA-AB-2838-03 COSM1318673 c.1495T>C p.S499P Substitution - Missense 3:47343711-47343711 + I2L-P19Ta-Tumor-Organoid COSM4644540 c.1573C>T p.R525C Substitution - Missense 3:47343789-47343789 + 001 COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 + EV001-M2a COSM1161847 c.1597G>A p.D533N Substitution - Missense 3:47343813-47343813 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517946 3p21.31

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.R216Gfs*42 c.646delA 3 47374692 LUAD A G 3-UTRSNV . c.1722+2376A>G 3 47387804 HC A G Missense p.N357S c.1070A>G 3 47378196 UCEC A G Missense p.Y356C c.1067A>G 3 47378193 ESCA A T Missense p.I385F c.1153A>T 3 47382093 BRCA C A Synonymous p.S285S c.855C>A 3 47376266 PRAD C A Synonymous p.V517V c.1551C>A 3 47385257 HNSC CC TT Missense p.L131F c.390_391delinsTT 3 47364187 CM CC TT Missense p.P358L c.1072_1073delinsTT 3 47378198 CM C T Missense p.A299V c.896C>T 3 47376307 LUAD C T Missense p.P218S c.652C>T 3 47374698 CM C T Missense p.P509S c.1525C>T 3 47385231 CM C T Missense p.R53W c.157C>T 3 47361170 PRAD C T Missense p.S399F c.1196C>T 3 47382136 CM C T Missense p.S404L c.1211C>T 3 47382151 LUSC C T Synonymous p.C74C c.222C>T 3 47361235 LGG C T Synonymous p.F176F c.528C>T 3 47371567 CM C T Synonymous p.F176F c.528C>T 3 47371567 LUSC C T Synonymous p.I60I c.180C>T 3 47361193 CM C T Synonymous p.P556P c.1668C>T 3 47385374 CM C T Synonymous p.Y219Y c.657C>T 3 47374703 LUSC G A Missense p.E192K c.574G>A 3 47371613 CM G A Missense p.G288E c.863G>A 3 47376274 CM G A Missense p.G471E c.1412G>A 3 47385118 HNSC G A Missense p.R513H c.1538G>A 3 47385244 HNSC G A Missense p.S477N c.1430G>A 3 47385136 UCEC G A Synonymous p.P358P c.1074G>A 3 47378200 STAD G C Missense p.R328P c.983G>C 3 47378109 LUSC GTGT - IntronicDeletion . c.129+4383_129+4386delGTGT 3 47328943 STAD G T Missense p.A102S c.304G>T 3 47364101 COREAD G T Missense p.A96S c.286G>T 3 47364083 STAD T C Missense p.S499P c.1495T>C 3 47385201 AML T C Missense p.V55A c.164T>C 3 47361177 CM