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 BLCA 10 46111887 46111887 + Missense_Mutation SNP G G C TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr10:46111887G>C c.2181C>G c.(2179-2181)atC>atG p.I727M BLCA 10 46113694 46113694 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr10:46113694G>A c.1942C>T c.(1942-1944)Cat>Tat p.H648Y BLCA 10 46121537 46121537 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr10:46121537G>T c.1734C>A c.(1732-1734)agC>agA p.S578R BLCA 10 46121601 46121601 + Missense_Mutation SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr10:46121601G>A c.1670C>T c.(1669-1671)tCc>tTc p.S557F BLCA 10 46121709 46121709 + Missense_Mutation SNP G G A TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 g.chr10:46121709G>A c.1562C>T c.(1561-1563)tCt>tTt p.S521F BLCA 10 46135371 46135371 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr10:46135371C>A c.610G>T c.(610-612)Gaa>Taa p.E204* BLCA 10 46135391 46135391 + Nonsense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr10:46135391G>C c.590C>G c.(589-591)tCa>tGa p.S197* BRCA 10 46121562 46121562 + Missense_Mutation SNP A A G TCGA-E9-A22B-01A-11D-A159-09 TCGA-E9-A22B-10A-01D-A159-09 g.chr10:46121562A>G c.1709T>C c.(1708-1710)cTt>cCt p.L570P BRCA 10 46121714 46121714 + Silent SNP A A C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr10:46121714A>C c.1557T>G c.(1555-1557)tcT>tcG p.S519S BRCA 10 46122005 46122005 + Silent SNP C C T TCGA-A8-A095-01A-11W-A019-09 TCGA-A8-A095-10A-01W-A021-09 g.chr10:46122005C>T c.1266G>A c.(1264-1266)gtG>gtA p.V422V BRCA 10 46122444 46122444 + Missense_Mutation SNP C C G TCGA-AR-A2LK-01A-11D-A17W-09 TCGA-AR-A2LK-10A-01D-A17W-09 g.chr10:46122444C>G c.827G>C c.(826-828)gGt>gCt p.G276A BRCA 10 46143787 46143787 + Missense_Mutation SNP T T C TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr10:46143787T>C c.524A>G c.(523-525)gAt>gGt p.D175G BRCA 10 46143870 46143870 + Frame_Shift_Del DEL T T - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 g.chr10:46143870delT c.441delA c.(439-441)gaafs p.E147fs BRCA 10 46143917 46143917 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr10:46143917C>T c.394G>A c.(394-396)Gag>Aag p.E132K CESC 10 46113667 46113667 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr10:46113667G>A c.1969C>T c.(1969-1971)Ctt>Ttt p.L657F CESC 10 46122404 46122404 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 g.chr10:46122404G>C c.867C>G c.(865-867)ccC>ccG p.P289P CESC 10 46147460 46147460 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr10:46147460C>T c.282G>A c.(280-282)ttG>ttA p.L94L COAD 10 46122015 46122015 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr10:46122015G>A c.1256C>T c.(1255-1257)gCg>gTg p.A419V COAD 10 46122029 46122029 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr10:46122029G>A c.1242C>T c.(1240-1242)agC>agT p.S414S COAD 10 46143749 46143749 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:46143749G>A c.562C>T c.(562-564)Cgt>Tgt p.R188C COADREAD 10 46121867 46121867 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:46121867C>A c.1404G>T c.(1402-1404)aaG>aaT p.K468N COADREAD 10 46122015 46122015 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr10:46122015G>A c.1256C>T c.(1255-1257)gCg>gTg p.A419V COADREAD 10 46122029 46122029 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr10:46122029G>A c.1242C>T c.(1240-1242)agC>agT p.S414S COADREAD 10 46122403 46122403 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:46122403C>T c.868G>A c.(868-870)Gaa>Aaa p.E290K COADREAD 10 46143749 46143749 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:46143749G>A c.562C>T c.(562-564)Cgt>Tgt p.R188C COADREAD 10 46148454 46148454 + Missense_Mutation SNP C C A TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr10:46148454C>A c.238G>T c.(238-240)Gat>Tat p.D80Y ESCA 10 46111990 46111990 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr10:46111990C>T c.2078G>A c.(2077-2079)cGt>cAt p.R693H ESCA 10 46113654 46113654 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr10:46113654T>G c.1982A>C c.(1981-1983)aAg>aCg p.K661T ESCA 10 46121400 46121400 + Splice_Site DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr10:46121400delA c.1871delT c.(1870-1872)ttg>tg p.L624fs ESCA 10 46121407 46121409 + In_Frame_Del DEL CTC CTC - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr10:46121407_46121409delCTC c.1862_1864delGAG c.(1861-1866)ggagtt>gtt p.G621del ESCA 10 46143749 46143749 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr10:46143749G>A c.562C>T c.(562-564)Cgt>Tgt p.R188C ESCA 10 46143826 46143826 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr10:46143826C>T c.485G>A c.(484-486)gGc>gAc p.G162D GBMLGG 10 46122443 46122443 + Silent SNP A A G TCGA-QH-A6CZ-01A-11D-A32B-08 TCGA-QH-A6CZ-10B-01D-A329-08 g.chr10:46122443A>G c.828T>C c.(826-828)ggT>ggC p.G276G GBMLGG 10 46135292 46135292 + Missense_Mutation SNP T T C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr10:46135292T>C c.689A>G c.(688-690)aAg>aGg p.K230R HNSC 10 46121636 46121636 + Silent SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr10:46121636C>T c.1635G>A c.(1633-1635)gaG>gaA p.E545E HNSC 10 46121668 46121668 + Missense_Mutation SNP C C A TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr10:46121668C>A c.1603G>T c.(1603-1605)Ggg>Tgg p.G535W HNSC 10 46121831 46121831 + Silent SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 g.chr10:46121831T>C c.1440A>G c.(1438-1440)ccA>ccG p.P480P HNSC 10 46122283 46122283 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr10:46122283G>C c.988C>G c.(988-990)Cac>Gac p.H330D KICH 10 46122460 46122460 + Missense_Mutation SNP C C A TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr10:46122460C>A c.811G>T c.(811-813)Gtc>Ttc p.V271F KIPAN 10 46113699 46113699 + Missense_Mutation SNP G G C TCGA-2K-A9WE-01A-11D-A382-10 TCGA-2K-A9WE-10A-01D-A385-10 g.chr10:46113699G>C c.1937C>G c.(1936-1938)aCt>aGt p.T646S KIPAN 10 46121526 46121526 + Missense_Mutation SNP A A G TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr10:46121526A>G c.1745T>C c.(1744-1746)tTa>tCa p.L582S KIPAN 10 46121548 46121548 + Missense_Mutation SNP C C T TCGA-CZ-5461-01A-01D-1501-10 TCGA-CZ-5461-11A-01D-1501-10 g.chr10:46121548C>T c.1723G>A c.(1723-1725)Ggg>Agg p.G575R KIPAN 10 46122460 46122460 + Missense_Mutation SNP C C A TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chr10:46122460C>A c.811G>T c.(811-813)Gtc>Ttc p.V271F KIRC 10 46121526 46121526 + Missense_Mutation SNP A A G TCGA-CJ-6031-01A-11D-1669-08 TCGA-CJ-6031-11A-01D-1669-08 g.chr10:46121526A>G c.1745T>C c.(1744-1746)tTa>tCa p.L582S KIRC 10 46121548 46121548 + Missense_Mutation SNP C C T TCGA-CZ-5461-01A-01D-1501-10 TCGA-CZ-5461-11A-01D-1501-10 g.chr10:46121548C>T c.1723G>A c.(1723-1725)Ggg>Agg p.G575R KIRP 10 46113699 46113699 + Missense_Mutation SNP G G C TCGA-2K-A9WE-01A-11D-A382-10 TCGA-2K-A9WE-10A-01D-A385-10 g.chr10:46113699G>C c.1937C>G c.(1936-1938)aCt>aGt p.T646S LGG 10 46122443 46122443 + Silent SNP A A G TCGA-QH-A6CZ-01A-11D-A32B-08 TCGA-QH-A6CZ-10B-01D-A329-08 g.chr10:46122443A>G c.828T>C c.(826-828)ggT>ggC p.G276G LGG 10 46135292 46135292 + Missense_Mutation SNP T T C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr10:46135292T>C c.689A>G c.(688-690)aAg>aGg p.K230R LIHC 10 46111982 46111982 + Missense_Mutation SNP C C G TCGA-DD-A3A2-01A-11D-A20W-10 TCGA-DD-A3A2-11A-11D-A20W-10 g.chr10:46111982C>G c.2086G>C c.(2086-2088)Gaa>Caa p.E696Q LIHC 10 46121665 46121665 + Missense_Mutation SNP T T C TCGA-DD-AACD-01A-11D-A40R-10 TCGA-DD-AACD-10A-01D-A40U-10 g.chr10:46121665T>C c.1606A>G c.(1606-1608)Aaa>Gaa p.K536E LIHC 10 46135397 46135397 + Missense_Mutation SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr10:46135397T>C c.584A>G c.(583-585)tAt>tGt p.Y195C LUAD 10 46111911 46111911 + Silent SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr10:46111911A>G c.2157T>C c.(2155-2157)gtT>gtC p.V719V LUAD 10 46111945 46111945 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr10:46111945C>A c.2123G>T c.(2122-2124)gGg>gTg p.G708V LUAD 10 46121515 46121515 + Missense_Mutation SNP G G A TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr10:46121515G>A c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C LUAD 10 46121673 46121673 + Missense_Mutation SNP G G A TCGA-93-A4JQ-01A-11D-A24P-08 TCGA-93-A4JQ-10A-01D-A24P-08 g.chr10:46121673G>A c.1598C>T c.(1597-1599)tCa>tTa p.S533L LUAD 10 46122313 46122313 + Missense_Mutation SNP C C G TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr10:46122313C>G c.958G>C c.(958-960)Gat>Cat p.D320H LUSC 10 46121631 46121631 + Missense_Mutation SNP C C A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr10:46121631C>A c.1640G>T c.(1639-1641)cGg>cTg p.R547L LUSC 10 46121646 46121646 + Missense_Mutation SNP G G A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr10:46121646G>A c.1625C>T c.(1624-1626)tCc>tTc p.S542F LUSC 10 46121658 46121658 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr10:46121658G>A c.1613C>T c.(1612-1614)tCt>tTt p.S538F LUSC 10 46147483 46147483 + Splice_Site SNP T T C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr10:46147483T>C c.e4-2 OV 10 46113604 46113604 + Missense_Mutation SNP T T G TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr10:46113604T>G c.2032A>C c.(2032-2034)Agt>Cgt p.S678R OV 10 46135330 46135330 + Silent SNP A A G TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 g.chr10:46135330A>G c.651T>C c.(649-651)aaT>aaC p.N217N PAAD 10 46121762 46121762 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:46121762C>T c.1509G>A c.(1507-1509)caG>caA p.Q503Q PAAD 10 46143814 46143814 + Missense_Mutation SNP G G A TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr10:46143814G>A c.497C>T c.(496-498)cCg>cTg p.P166L PRAD 10 46113586 46113586 + Splice_Site SNP G G C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 g.chr10:46113586G>C c.e9+1 READ 10 46121867 46121867 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:46121867C>A c.1404G>T c.(1402-1404)aaG>aaT p.K468N READ 10 46122403 46122403 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:46122403C>T c.868G>A c.(868-870)Gaa>Aaa p.E290K READ 10 46148454 46148454 + Missense_Mutation SNP C C A TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr10:46148454C>A c.238G>T c.(238-240)Gat>Tat p.D80Y SKCM 10 46113685 46113685 + Missense_Mutation SNP G G A TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr10:46113685G>A c.1951C>T c.(1951-1953)Cca>Tca p.P651S SKCM 10 46121451 46121451 + Missense_Mutation SNP T T G TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr10:46121451T>G c.1820A>C c.(1819-1821)gAa>gCa p.E607A SKCM 10 46121878 46121878 + Missense_Mutation SNP T T C TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr10:46121878T>C c.1393A>G c.(1393-1395)Agt>Ggt p.S465G SKCM 10 46121896 46121896 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr10:46121896G>A c.1375C>T c.(1375-1377)Ctt>Ttt p.L459F SKCM 10 46122066 46122066 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:46122066G>A c.1205C>T c.(1204-1206)gCt>gTt p.A402V SKCM 10 46122157 46122157 + Missense_Mutation SNP C C T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr10:46122157C>T c.1114G>A c.(1114-1116)Gga>Aga p.G372R SKCM 10 46122243 46122243 + Missense_Mutation SNP T T G TCGA-ER-A3ES-06A-11D-A20D-08 TCGA-ER-A3ES-10A-01D-A20D-08 g.chr10:46122243T>G c.1028A>C c.(1027-1029)cAt>cCt p.H343P SKCM 10 46122251 46122251 + Silent SNP C C T TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr10:46122251C>T c.1020G>A c.(1018-1020)caG>caA p.Q340Q SKCM 10 46122396 46122396 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr10:46122396G>A c.875C>T c.(874-876)tCc>tTc p.S292F SKCM 10 46122504 46122504 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr10:46122504G>A c.767C>T c.(766-768)cCt>cTt p.P256L SKCM 10 46143839 46143839 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr10:46143839C>T c.472G>A c.(472-474)Gat>Aat p.D158N SKCM 10 46143848 46143848 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:46143848G>A c.463C>T c.(463-465)Cct>Tct p.P155S SKCM 10 46148466 46148466 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr10:46148466C>T c.226G>A c.(226-228)Gaa>Aaa p.E76K SKCM 10 46148504 46148504 + Missense_Mutation SNP A A G TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:46148504A>G c.188T>C c.(187-189)aTt>aCt p.I63T SKCM 10 46159002 46159002 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr10:46159002G>A c.172C>T c.(172-174)Cga>Tga p.R58* SKCM 10 46159129 46159129 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr10:46159129C>T c.45G>A c.(43-45)atG>atA p.M15I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 10 46121497 46121497 single base substitution G A exon_variant BLCA-CN 10 46121497 46121497 single base substitution G A intron_variant BLCA-CN 10 46121497 46121497 single base substitution G A stop_gained Q518* 1552C>T BLCA-CN 10 46121497 46121497 single base substitution G A stop_gained Q592* 1774C>T BLCA-CN 10 46159040 46159040 single base substitution G A 5_prime_UTR_variant BLCA-CN 10 46159040 46159040 single base substitution G A exon_variant BLCA-CN 10 46159040 46159040 single base substitution G A missense_variant S45L 134C>T BLCA-US 10 46121537 46121537 single base substitution G T exon_variant BLCA-US 10 46121537 46121537 single base substitution G T intron_variant BLCA-US 10 46121537 46121537 single base substitution G T missense_variant S504R 1512C>A BLCA-US 10 46121537 46121537 single base substitution G T missense_variant S578R 1734C>A BLCA-US 10 46121709 46121709 single base substitution G A exon_variant BLCA-US 10 46121709 46121709 single base substitution G A intron_variant BLCA-US 10 46121709 46121709 single base substitution G A missense_variant S447F 1340C>T BLCA-US 10 46121709 46121709 single base substitution G A missense_variant S521F 1562C>T BOCA-FR 10 46118244 46118244 single base substitution C T intron_variant BOCA-FR 10 46118244 46118244 single base substitution C T upstream_gene_variant BRCA-EU 10 46106294 46106294 single base substitution T C downstream_gene_variant BRCA-EU 10 46107230 46107230 single base substitution G C downstream_gene_variant BRCA-EU 10 46108242 46108242 single base substitution G C downstream_gene_variant BRCA-EU 10 46110703 46110703 single base substitution C A downstream_gene_variant BRCA-EU 10 46111285 46111285 single base substitution G C 3_prime_UTR_variant BRCA-EU 10 46111285 46111285 single base substitution G C downstream_gene_variant BRCA-EU 10 46111438 46111438 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 10 46111438 46111438 deletion of <=200bp A - downstream_gene_variant BRCA-EU 10 46111801 46111801 single base substitution G A 3_prime_UTR_variant BRCA-EU 10 46111801 46111801 single base substitution G A downstream_gene_variant BRCA-EU 10 46112083 46112083 single base substitution G A downstream_gene_variant BRCA-EU 10 46112083 46112083 single base substitution G A intron_variant BRCA-EU 10 46112218 46112218 single base substitution G C downstream_gene_variant BRCA-EU 10 46112218 46112218 single base substitution G C intron_variant BRCA-EU 10 46113218 46113218 single base substitution T A exon_variant BRCA-EU 10 46113218 46113218 single base substitution T A intron_variant BRCA-EU 10 46114691 46114691 single base substitution C G intron_variant BRCA-EU 10 46115471 46115471 single base substitution T C intron_variant BRCA-EU 10 46115578 46115578 deletion of <=200bp T - intron_variant BRCA-EU 10 46118192 46118192 single base substitution T C intron_variant BRCA-EU 10 46118192 46118192 single base substitution T C upstream_gene_variant BRCA-EU 10 46120346 46120346 single base substitution G A intron_variant BRCA-EU 10 46120346 46120346 single base substitution G A upstream_gene_variant BRCA-EU 10 46120899 46120899 single base substitution G T intron_variant BRCA-EU 10 46120899 46120899 single base substitution G T upstream_gene_variant BRCA-EU 10 46121094 46121094 single base substitution C G intron_variant BRCA-EU 10 46121094 46121094 single base substitution C G upstream_gene_variant BRCA-EU 10 46122242 46122242 single base substitution A G exon_variant BRCA-EU 10 46122242 46122242 single base substitution A G intron_variant BRCA-EU 10 46122242 46122242 single base substitution A G synonymous_variant H269H 807T>C BRCA-EU 10 46122242 46122242 single base substitution A G synonymous_variant H343H 1029T>C BRCA-EU 10 46123011 46123011 single base substitution G A intron_variant BRCA-EU 10 46126993 46126993 insertion of <=200bp - A intron_variant BRCA-EU 10 46127000 46127000 single base substitution C A intron_variant BRCA-EU 10 46127716 46127716 single base substitution G A intron_variant BRCA-EU 10 46128061 46128061 single base substitution G A intron_variant BRCA-EU 10 46129668 46129668 single base substitution T C intron_variant BRCA-EU 10 46129778 46129778 single base substitution C G intron_variant BRCA-EU 10 46130708 46130708 single base substitution G C downstream_gene_variant BRCA-EU 10 46130708 46130708 single base substitution G C intron_variant BRCA-EU 10 46133111 46133111 single base substitution T C downstream_gene_variant BRCA-EU 10 46133111 46133111 single base substitution T C intron_variant BRCA-EU 10 46135017 46135019 deletion of <=200bp TTT - downstream_gene_variant BRCA-EU 10 46135017 46135019 deletion of <=200bp TTT - intron_variant BRCA-EU 10 46136105 46136105 single base substitution A T intron_variant BRCA-EU 10 46136216 46136216 single base substitution G C intron_variant BRCA-EU 10 46137696 46137696 single base substitution G C intron_variant BRCA-EU 10 46138114 46138114 single base substitution A G intron_variant BRCA-EU 10 46139927 46139927 single base substitution A G downstream_gene_variant BRCA-EU 10 46139927 46139927 single base substitution A G intron_variant BRCA-EU 10 46139964 46139964 single base substitution G C downstream_gene_variant BRCA-EU 10 46139964 46139964 single base substitution G C intron_variant BRCA-EU 10 46140789 46140789 single base substitution G C downstream_gene_variant BRCA-EU 10 46140789 46140789 single base substitution G C intron_variant BRCA-EU 10 46141118 46141118 single base substitution C T downstream_gene_variant BRCA-EU 10 46141118 46141118 single base substitution C T intron_variant BRCA-EU 10 46141894 46141894 single base substitution C T downstream_gene_variant BRCA-EU 10 46141894 46141894 single base substitution C T intron_variant BRCA-EU 10 46143418 46143418 single base substitution T A downstream_gene_variant BRCA-EU 10 46143418 46143418 single base substitution T A intron_variant BRCA-EU 10 46144309 46144309 single base substitution A G downstream_gene_variant BRCA-EU 10 46144309 46144309 single base substitution A G intron_variant BRCA-EU 10 46146440 46146440 single base substitution A G 3_prime_UTR_variant BRCA-EU 10 46146440 46146440 single base substitution A G intron_variant BRCA-EU 10 46146440 46146440 single base substitution A G upstream_gene_variant BRCA-EU 10 46147673 46147673 single base substitution C G intron_variant BRCA-EU 10 46147673 46147673 single base substitution C G upstream_gene_variant BRCA-EU 10 46148525 46148525 deletion of <=200bp A - intron_variant BRCA-EU 10 46148525 46148525 deletion of <=200bp A - upstream_gene_variant BRCA-EU 10 46149859 46149859 single base substitution G C intron_variant BRCA-EU 10 46149859 46149859 single base substitution G C upstream_gene_variant BRCA-EU 10 46150010 46150010 single base substitution T C intron_variant BRCA-EU 10 46150010 46150010 single base substitution T C upstream_gene_variant BRCA-EU 10 46150087 46150087 single base substitution G C intron_variant BRCA-EU 10 46150087 46150087 single base substitution G C upstream_gene_variant BRCA-EU 10 46151623 46151623 single base substitution G T intron_variant BRCA-EU 10 46154145 46154145 insertion of <=200bp - A intron_variant BRCA-EU 10 46154270 46154270 single base substitution G C intron_variant BRCA-EU 10 46154817 46154817 single base substitution A C intron_variant BRCA-EU 10 46156211 46156211 single base substitution G A intron_variant BRCA-EU 10 46156290 46156290 single base substitution G C intron_variant BRCA-EU 10 46158139 46158139 single base substitution T C intron_variant BRCA-EU 10 46159645 46159645 single base substitution C G intron_variant BRCA-EU 10 46160203 46160203 single base substitution A G intron_variant BRCA-EU 10 46160228 46160228 single base substitution A G intron_variant BRCA-EU 10 46161807 46161807 single base substitution G A intron_variant BRCA-EU 10 46164701 46164701 single base substitution C A intron_variant BRCA-EU 10 46165825 46165825 single base substitution C G intron_variant BRCA-EU 10 46165829 46165829 single base substitution C A intron_variant BRCA-EU 10 46166332 46166332 single base substitution G C intron_variant BRCA-EU 10 46166431 46166431 single base substitution T A intron_variant BRCA-EU 10 46169698 46169698 single base substitution G A upstream_gene_variant BRCA-EU 10 46169877 46169877 deletion of <=200bp T - upstream_gene_variant BRCA-EU 10 46169879 46169879 single base substitution T A upstream_gene_variant BRCA-EU 10 46170091 46170091 single base substitution C T upstream_gene_variant BRCA-EU 10 46170135 46170135 single base substitution C T upstream_gene_variant BRCA-EU 10 46170362 46170362 single base substitution C T upstream_gene_variant BRCA-EU 10 46170381 46170381 single base substitution A G upstream_gene_variant BRCA-EU 10 46170931 46170931 single base substitution A G upstream_gene_variant BRCA-EU 10 46172312 46172312 single base substitution C T upstream_gene_variant BRCA-FR 10 46114691 46114691 single base substitution C G intron_variant BRCA-FR 10 46128061 46128061 single base substitution G A intron_variant BRCA-FR 10 46139964 46139964 single base substitution G C downstream_gene_variant BRCA-FR 10 46139964 46139964 single base substitution G C intron_variant BRCA-FR 10 46140789 46140789 single base substitution G C downstream_gene_variant BRCA-FR 10 46140789 46140789 single base substitution G C intron_variant BRCA-FR 10 46156211 46156211 single base substitution G A intron_variant BRCA-FR 10 46161269 46161269 single base substitution A G intron_variant BRCA-UK 10 46116976 46116976 single base substitution G A intron_variant BRCA-UK 10 46116976 46116976 single base substitution G A upstream_gene_variant BRCA-UK 10 46138188 46138188 single base substitution G C intron_variant BRCA-UK 10 46138271 46138271 single base substitution G A intron_variant BRCA-UK 10 46169451 46169451 single base substitution G C upstream_gene_variant BRCA-US 10 46121562 46121562 single base substitution A G exon_variant BRCA-US 10 46121562 46121562 single base substitution A G intron_variant BRCA-US 10 46121562 46121562 single base substitution A G missense_variant L496P 1487T>C BRCA-US 10 46121562 46121562 single base substitution A G missense_variant L570P 1709T>C BRCA-US 10 46121714 46121714 single base substitution A C exon_variant BRCA-US 10 46121714 46121714 single base substitution A C intron_variant BRCA-US 10 46121714 46121714 single base substitution A C synonymous_variant S445S 1335T>G BRCA-US 10 46121714 46121714 single base substitution A C synonymous_variant S519S 1557T>G BRCA-US 10 46122005 46122005 single base substitution C T exon_variant BRCA-US 10 46122005 46122005 single base substitution C T intron_variant BRCA-US 10 46122005 46122005 single base substitution C T synonymous_variant V348V 1044G>A BRCA-US 10 46122005 46122005 single base substitution C T synonymous_variant V422V 1266G>A BRCA-US 10 46122444 46122444 single base substitution C G exon_variant BRCA-US 10 46122444 46122444 single base substitution C G intron_variant BRCA-US 10 46122444 46122444 single base substitution C G missense_variant G202A 605G>C BRCA-US 10 46122444 46122444 single base substitution C G missense_variant G276A 827G>C BRCA-US 10 46143787 46143787 single base substitution T C downstream_gene_variant BRCA-US 10 46143787 46143787 single base substitution T C exon_variant BRCA-US 10 46143787 46143787 single base substitution T C missense_variant D101G 302A>G BRCA-US 10 46143787 46143787 single base substitution T C missense_variant D175G 524A>G BRCA-US 10 46143870 46143870 deletion of <=200bp T - downstream_gene_variant BRCA-US 10 46143870 46143870 deletion of <=200bp T - exon_variant BRCA-US 10 46143870 46143870 deletion of <=200bp T - frameshift_variant E147 BRCA-US 10 46143870 46143870 deletion of <=200bp T - frameshift_variant E73 BRCA-US 10 46143917 46143917 single base substitution C T downstream_gene_variant BRCA-US 10 46143917 46143917 single base substitution C T exon_variant BRCA-US 10 46143917 46143917 single base substitution C T missense_variant E132K 394G>A BRCA-US 10 46143917 46143917 single base substitution C T missense_variant E58K 172G>A BTCA-JP 10 46121876 46121876 single base substitution A T exon_variant BTCA-JP 10 46121876 46121876 single base substitution A T intron_variant BTCA-JP 10 46121876 46121876 single base substitution A T missense_variant S391R 1173T>A BTCA-JP 10 46121876 46121876 single base substitution A T missense_variant S465R 1395T>A CESC-US 10 46113667 46113667 single base substitution G A exon_variant CESC-US 10 46113667 46113667 single base substitution G A missense_variant L583F 1747C>T CESC-US 10 46113667 46113667 single base substitution G A missense_variant L657F 1969C>T CESC-US 10 46113667 46113667 single base substitution G A missense_variant S204F 611C>T CESC-US 10 46122404 46122404 single base substitution G C exon_variant CESC-US 10 46122404 46122404 single base substitution G C intron_variant CESC-US 10 46122404 46122404 single base substitution G C synonymous_variant P215P 645C>G CESC-US 10 46122404 46122404 single base substitution G C synonymous_variant P289P 867C>G CESC-US 10 46147460 46147460 single base substitution C T exon_variant CESC-US 10 46147460 46147460 single base substitution C T synonymous_variant L20L 60G>A CESC-US 10 46147460 46147460 single base substitution C T synonymous_variant L94L 282G>A CESC-US 10 46147460 46147460 single base substitution C T upstream_gene_variant CLLE-ES 10 46111020 46111020 single base substitution T G downstream_gene_variant CLLE-ES 10 46111022 46111022 single base substitution A G downstream_gene_variant CLLE-ES 10 46111038 46111038 single base substitution A C downstream_gene_variant CLLE-ES 10 46130658 46130658 single base substitution A C downstream_gene_variant CLLE-ES 10 46130658 46130658 single base substitution A C intron_variant CLLE-ES 10 46145215 46145215 single base substitution T A downstream_gene_variant CLLE-ES 10 46145215 46145215 single base substitution T A exon_variant CLLE-ES 10 46145215 46145215 single base substitution T A intron_variant CLLE-ES 10 46158390 46158390 single base substitution A G intron_variant CLLE-ES 10 46172188 46172188 single base substitution G A upstream_gene_variant COAD-US 10 46111949 46111949 single base substitution C T 3_prime_UTR_variant COAD-US 10 46111949 46111949 single base substitution C T downstream_gene_variant COAD-US 10 46111949 46111949 single base substitution C T exon_variant COAD-US 10 46111949 46111949 single base substitution C T missense_variant A633T 1897G>A COAD-US 10 46111949 46111949 single base substitution C T missense_variant A707T 2119G>A COAD-US 10 46122015 46122015 single base substitution G A exon_variant COAD-US 10 46122015 46122015 single base substitution G A intron_variant COAD-US 10 46122015 46122015 single base substitution G A missense_variant A345V 1034C>T COAD-US 10 46122015 46122015 single base substitution G A missense_variant A419V 1256C>T COAD-US 10 46122029 46122029 single base substitution G A exon_variant COAD-US 10 46122029 46122029 single base substitution G A intron_variant COAD-US 10 46122029 46122029 single base substitution G A synonymous_variant S340S 1020C>T COAD-US 10 46122029 46122029 single base substitution G A synonymous_variant S414S 1242C>T COCA-CN 10 46113592 46113592 single base substitution A T 3_prime_UTR_variant COCA-CN 10 46113592 46113592 single base substitution A T exon_variant COCA-CN 10 46113592 46113592 single base substitution A T missense_variant C608S 1822T>A COCA-CN 10 46113592 46113592 single base substitution A T missense_variant C682S 2044T>A COCA-CN 10 46120108 46120108 single base substitution C A intron_variant COCA-CN 10 46120108 46120108 single base substitution C A upstream_gene_variant COCA-CN 10 46143918 46143918 single base substitution C A downstream_gene_variant COCA-CN 10 46143918 46143918 single base substitution C A exon_variant COCA-CN 10 46143918 46143918 single base substitution C A missense_variant W131C 393G>T COCA-CN 10 46143918 46143918 single base substitution C A missense_variant W57C 171G>T COCA-CN 10 46143972 46143972 single base substitution G A downstream_gene_variant COCA-CN 10 46143972 46143972 single base substitution G A exon_variant COCA-CN 10 46143972 46143972 single base substitution G A synonymous_variant D113D 339C>T COCA-CN 10 46143972 46143972 single base substitution G A synonymous_variant D39D 117C>T COCA-CN 10 46153911 46153911 single base substitution T C intron_variant COCA-CN 10 46162907 46162907 single base substitution T C intron_variant COCA-CN 10 46167050 46167050 single base substitution T A intron_variant ESAD-UK 10 46107959 46107959 single base substitution G T downstream_gene_variant ESAD-UK 10 46111115 46111115 single base substitution G T 3_prime_UTR_variant ESAD-UK 10 46111115 46111115 single base substitution G T downstream_gene_variant ESAD-UK 10 46112165 46112165 single base substitution C T downstream_gene_variant ESAD-UK 10 46112165 46112165 single base substitution C T intron_variant ESAD-UK 10 46113452 46113452 single base substitution A G exon_variant ESAD-UK 10 46113452 46113452 single base substitution A G intron_variant ESAD-UK 10 46115061 46115061 single base substitution A C intron_variant ESAD-UK 10 46115390 46115390 single base substitution A C intron_variant ESAD-UK 10 46116241 46116241 single base substitution C A exon_variant ESAD-UK 10 46116241 46116241 single base substitution C A intron_variant ESAD-UK 10 46117287 46117287 single base substitution T A intron_variant ESAD-UK 10 46117287 46117287 single base substitution T A upstream_gene_variant ESAD-UK 10 46117288 46117288 deletion of <=200bp A - intron_variant ESAD-UK 10 46117288 46117288 deletion of <=200bp A - upstream_gene_variant ESAD-UK 10 46117586 46117586 single base substitution A G intron_variant ESAD-UK 10 46117586 46117586 single base substitution A G upstream_gene_variant ESAD-UK 10 46120782 46120782 single base substitution C T intron_variant ESAD-UK 10 46120782 46120782 single base substitution C T upstream_gene_variant ESAD-UK 10 46121773 46121773 single base substitution C T exon_variant ESAD-UK 10 46121773 46121773 single base substitution C T intron_variant ESAD-UK 10 46121773 46121773 single base substitution C T missense_variant G426R 1276G>A ESAD-UK 10 46121773 46121773 single base substitution C T missense_variant G500R 1498G>A ESAD-UK 10 46122432 46122432 single base substitution G A exon_variant ESAD-UK 10 46122432 46122432 single base substitution G A intron_variant ESAD-UK 10 46122432 46122432 single base substitution G A missense_variant S206L 617C>T ESAD-UK 10 46122432 46122432 single base substitution G A missense_variant S280L 839C>T ESAD-UK 10 46123233 46123233 single base substitution G A intron_variant ESAD-UK 10 46124447 46124447 single base substitution T C intron_variant ESAD-UK 10 46125946 46125946 single base substitution G A intron_variant ESAD-UK 10 46129690 46129690 single base substitution C T intron_variant ESAD-UK 10 46130408 46130408 single base substitution G T downstream_gene_variant ESAD-UK 10 46130408 46130408 single base substitution G T intron_variant ESAD-UK 10 46132306 46132306 single base substitution G A downstream_gene_variant ESAD-UK 10 46132306 46132306 single base substitution G A intron_variant ESAD-UK 10 46132920 46132920 single base substitution C A downstream_gene_variant ESAD-UK 10 46132920 46132920 single base substitution C A intron_variant ESAD-UK 10 46135758 46135758 single base substitution G A 3_prime_UTR_variant ESAD-UK 10 46135758 46135758 single base substitution G A intron_variant ESAD-UK 10 46136390 46136390 single base substitution T C intron_variant ESAD-UK 10 46137367 46137367 single base substitution A T intron_variant ESAD-UK 10 46141778 46141778 single base substitution A C downstream_gene_variant ESAD-UK 10 46141778 46141778 single base substitution A C intron_variant ESAD-UK 10 46141779 46141779 single base substitution G A downstream_gene_variant ESAD-UK 10 46141779 46141779 single base substitution G A intron_variant ESAD-UK 10 46142588 46142588 single base substitution G A downstream_gene_variant ESAD-UK 10 46142588 46142588 single base substitution G A intron_variant ESAD-UK 10 46143130 46143130 single base substitution G A downstream_gene_variant ESAD-UK 10 46143130 46143130 single base substitution G A intron_variant ESAD-UK 10 46144698 46144698 single base substitution T C downstream_gene_variant ESAD-UK 10 46144698 46144698 single base substitution T C intron_variant ESAD-UK 10 46151395 46151395 single base substitution A C intron_variant ESAD-UK 10 46153982 46153982 insertion of <=200bp - A intron_variant ESAD-UK 10 46154629 46154629 single base substitution A C intron_variant ESAD-UK 10 46154646 46154646 single base substitution A C intron_variant ESAD-UK 10 46155127 46155127 single base substitution G A intron_variant ESAD-UK 10 46156359 46156359 single base substitution A G intron_variant ESAD-UK 10 46156600 46156600 single base substitution T C intron_variant ESAD-UK 10 46159386 46159386 single base substitution C T intron_variant ESAD-UK 10 46159961 46159961 single base substitution C T intron_variant ESAD-UK 10 46163215 46163215 single base substitution C T intron_variant ESAD-UK 10 46165563 46165563 single base substitution T C intron_variant ESAD-UK 10 46168092 46168092 insertion of <=200bp - C 5_prime_UTR_variant ESAD-UK 10 46168092 46168092 insertion of <=200bp - C exon_variant ESAD-UK 10 46168092 46168092 insertion of <=200bp - C intron_variant ESAD-UK 10 46168092 46168092 insertion of <=200bp - C upstream_gene_variant ESAD-UK 10 46168365 46168365 single base substitution C A upstream_gene_variant ESAD-UK 10 46168513 46168513 single base substitution C T upstream_gene_variant ESAD-UK 10 46170895 46170895 single base substitution C T upstream_gene_variant ESAD-UK 10 46172920 46172920 single base substitution A G upstream_gene_variant ESAD-UK 10 46173009 46173009 single base substitution A C upstream_gene_variant ESCA-CN 10 46122051 46122051 single base substitution C T exon_variant ESCA-CN 10 46122051 46122051 single base substitution C T intron_variant ESCA-CN 10 46122051 46122051 single base substitution C T missense_variant G333E 998G>A ESCA-CN 10 46122051 46122051 single base substitution C T missense_variant G407E 1220G>A ESCA-CN 10 46135871 46135871 single base substitution T A intron_variant ESCA-CN 10 46135871 46135871 single base substitution T A splice_acceptor_variant ESCA-CN 10 46147545 46147545 single base substitution T C intron_variant ESCA-CN 10 46147545 46147545 single base substitution T C upstream_gene_variant KIRC-US 10 46121526 46121526 single base substitution A G exon_variant KIRC-US 10 46121526 46121526 single base substitution A G intron_variant KIRC-US 10 46121526 46121526 single base substitution A G missense_variant L508S 1523T>C KIRC-US 10 46121526 46121526 single base substitution A G missense_variant L582S 1745T>C KIRC-US 10 46121548 46121548 single base substitution C T exon_variant KIRC-US 10 46121548 46121548 single base substitution C T intron_variant KIRC-US 10 46121548 46121548 single base substitution C T missense_variant G501R 1501G>A KIRC-US 10 46121548 46121548 single base substitution C T missense_variant G575R 1723G>A LAML-KR 10 46122141 46122141 single base substitution C T exon_variant LAML-KR 10 46122141 46122141 single base substitution C T intron_variant LAML-KR 10 46122141 46122141 single base substitution C T missense_variant S303N 908G>A LAML-KR 10 46122141 46122141 single base substitution C T missense_variant S377N 1130G>A LAML-KR 10 46130468 46130468 single base substitution T C downstream_gene_variant LAML-KR 10 46130468 46130468 single base substitution T C intron_variant LAML-KR 10 46155633 46155633 single base substitution T A intron_variant LAML-KR 10 46159738 46159738 single base substitution G T intron_variant LGG-US 10 46135292 46135292 single base substitution T C 3_prime_UTR_variant LGG-US 10 46135292 46135292 single base substitution T C exon_variant LGG-US 10 46135292 46135292 single base substitution T C intron_variant LGG-US 10 46135292 46135292 single base substitution T C missense_variant K156R 467A>G LGG-US 10 46135292 46135292 single base substitution T C missense_variant K230R 689A>G LICA-FR 10 46120625 46120625 deletion of <=200bp A - intron_variant LICA-FR 10 46120625 46120625 deletion of <=200bp A - upstream_gene_variant LICA-FR 10 46132002 46132002 single base substitution T C downstream_gene_variant LICA-FR 10 46132002 46132002 single base substitution T C intron_variant LICA-FR 10 46135872 46135872 deletion of <=200bp A - intron_variant LICA-FR 10 46135872 46135872 deletion of <=200bp A - splice_region_variant LICA-FR 10 46148678 46148678 single base substitution A G intron_variant LICA-FR 10 46148678 46148678 single base substitution A G upstream_gene_variant LICA-FR 10 46164589 46164589 single base substitution T C intron_variant LIHC-US 10 46111982 46111982 single base substitution C G 3_prime_UTR_variant LIHC-US 10 46111982 46111982 single base substitution C G downstream_gene_variant LIHC-US 10 46111982 46111982 single base substitution C G exon_variant LIHC-US 10 46111982 46111982 single base substitution C G missense_variant E622Q 1864G>C LIHC-US 10 46111982 46111982 single base substitution C G missense_variant E696Q 2086G>C LIHC-US 10 46135397 46135397 single base substitution T C 3_prime_UTR_variant LIHC-US 10 46135397 46135397 single base substitution T C exon_variant LIHC-US 10 46135397 46135397 single base substitution T C intron_variant LIHC-US 10 46135397 46135397 single base substitution T C missense_variant Y121C 362A>G LIHC-US 10 46135397 46135397 single base substitution T C missense_variant Y195C 584A>G LINC-JP 10 46107013 46107013 single base substitution G T downstream_gene_variant LINC-JP 10 46116870 46116870 deletion of <=200bp A - intron_variant LINC-JP 10 46116870 46116870 deletion of <=200bp A - upstream_gene_variant LINC-JP 10 46118285 46118285 deletion of <=200bp T - intron_variant LINC-JP 10 46118285 46118285 deletion of <=200bp T - upstream_gene_variant LINC-JP 10 46119970 46119970 single base substitution C G intron_variant LINC-JP 10 46119970 46119970 single base substitution C G upstream_gene_variant LINC-JP 10 46121224 46121224 single base substitution G T intron_variant LINC-JP 10 46121224 46121224 single base substitution G T upstream_gene_variant LINC-JP 10 46121978 46121978 single base substitution A T exon_variant LINC-JP 10 46121978 46121978 single base substitution A T intron_variant LINC-JP 10 46121978 46121978 single base substitution A T synonymous_variant A357A 1071T>A LINC-JP 10 46121978 46121978 single base substitution A T synonymous_variant A431A 1293T>A LINC-JP 10 46121993 46121993 single base substitution C T exon_variant LINC-JP 10 46121993 46121993 single base substitution C T intron_variant LINC-JP 10 46121993 46121993 single base substitution C T synonymous_variant L352L 1056G>A LINC-JP 10 46121993 46121993 single base substitution C T synonymous_variant L426L 1278G>A LINC-JP 10 46124377 46124377 single base substitution T A intron_variant LINC-JP 10 46128664 46128664 deletion of <=200bp A - intron_variant LINC-JP 10 46136264 46136264 single base substitution T C intron_variant LINC-JP 10 46139558 46139558 single base substitution T C downstream_gene_variant LINC-JP 10 46139558 46139558 single base substitution T C intron_variant LINC-JP 10 46147613 46147613 single base substitution T C intron_variant LINC-JP 10 46147613 46147613 single base substitution T C upstream_gene_variant LIRI-JP 10 46108473 46108473 single base substitution T C downstream_gene_variant LIRI-JP 10 46110051 46110051 single base substitution T C downstream_gene_variant LIRI-JP 10 46110507 46110507 single base substitution T C downstream_gene_variant LIRI-JP 10 46112153 46112153 single base substitution T G downstream_gene_variant LIRI-JP 10 46112153 46112153 single base substitution T G intron_variant LIRI-JP 10 46113213 46113213 single base substitution T C exon_variant LIRI-JP 10 46113213 46113213 single base substitution T C intron_variant LIRI-JP 10 46113961 46113961 single base substitution T A intron_variant LIRI-JP 10 46115983 46115983 single base substitution A C intron_variant LIRI-JP 10 46116476 46116476 single base substitution C A intron_variant LIRI-JP 10 46116476 46116476 single base substitution C A upstream_gene_variant LIRI-JP 10 46118834 46118834 single base substitution G T intron_variant LIRI-JP 10 46118834 46118834 single base substitution G T upstream_gene_variant LIRI-JP 10 46121644 46121644 single base substitution T C exon_variant LIRI-JP 10 46121644 46121644 single base substitution T C intron_variant LIRI-JP 10 46121644 46121644 single base substitution T C missense_variant K469E 1405A>G LIRI-JP 10 46121644 46121644 single base substitution T C missense_variant K543E 1627A>G LIRI-JP 10 46122864 46122864 single base substitution A G intron_variant LIRI-JP 10 46123409 46123409 single base substitution C T intron_variant LIRI-JP 10 46124841 46124841 single base substitution C A intron_variant LIRI-JP 10 46125019 46125019 single base substitution T C intron_variant LIRI-JP 10 46125976 46125976 single base substitution C A intron_variant LIRI-JP 10 46125990 46125990 single base substitution A G intron_variant LIRI-JP 10 46126287 46126287 single base substitution C T intron_variant LIRI-JP 10 46129796 46129796 single base substitution C T intron_variant LIRI-JP 10 46130834 46130834 single base substitution T C downstream_gene_variant LIRI-JP 10 46130834 46130834 single base substitution T C intron_variant LIRI-JP 10 46134116 46134116 single base substitution T C downstream_gene_variant LIRI-JP 10 46134116 46134116 single base substitution T C intron_variant LIRI-JP 10 46135163 46135163 single base substitution T C 3_prime_UTR_variant LIRI-JP 10 46135163 46135163 single base substitution T C intron_variant LIRI-JP 10 46140026 46140026 single base substitution T C downstream_gene_variant LIRI-JP 10 46140026 46140026 single base substitution T C intron_variant LIRI-JP 10 46142202 46142202 single base substitution G T downstream_gene_variant LIRI-JP 10 46142202 46142202 single base substitution G T intron_variant LIRI-JP 10 46142359 46142359 single base substitution T C downstream_gene_variant LIRI-JP 10 46142359 46142359 single base substitution T C intron_variant LIRI-JP 10 46143065 46143065 single base substitution T C downstream_gene_variant LIRI-JP 10 46143065 46143065 single base substitution T C intron_variant LIRI-JP 10 46144781 46144781 single base substitution G A downstream_gene_variant LIRI-JP 10 46144781 46144781 single base substitution G A intron_variant LIRI-JP 10 46145001 46145013 deletion of <=200bp TAAGGTAAAAACA - downstream_gene_variant LIRI-JP 10 46145001 46145013 deletion of <=200bp TAAGGTAAAAACA - intron_variant LIRI-JP 10 46146018 46146018 single base substitution C T 3_prime_UTR_variant LIRI-JP 10 46146018 46146018 single base substitution C T intron_variant LIRI-JP 10 46146018 46146018 single base substitution C T upstream_gene_variant LIRI-JP 10 46150525 46150525 single base substitution T C intron_variant LIRI-JP 10 46151065 46151065 single base substitution T C intron_variant LIRI-JP 10 46152660 46152660 single base substitution C T intron_variant LIRI-JP 10 46160530 46160530 single base substitution A G intron_variant LIRI-JP 10 46162770 46162770 single base substitution T C intron_variant LIRI-JP 10 46167488 46167488 single base substitution T C intron_variant LIRI-JP 10 46168635 46168635 single base substitution T C upstream_gene_variant LUSC-KR 10 46111535 46111535 single base substitution A T 3_prime_UTR_variant LUSC-KR 10 46111535 46111535 single base substitution A T downstream_gene_variant LUSC-KR 10 46111716 46111716 single base substitution A T 3_prime_UTR_variant LUSC-KR 10 46111716 46111716 single base substitution A T downstream_gene_variant LUSC-KR 10 46111950 46111950 single base substitution A G 3_prime_UTR_variant LUSC-KR 10 46111950 46111950 single base substitution A G downstream_gene_variant LUSC-KR 10 46111950 46111950 single base substitution A G exon_variant LUSC-KR 10 46111950 46111950 single base substitution A G synonymous_variant S632S 1896T>C LUSC-KR 10 46111950 46111950 single base substitution A G synonymous_variant S706S 2118T>C LUSC-KR 10 46112031 46112031 single base substitution A G downstream_gene_variant LUSC-KR 10 46112031 46112031 single base substitution A G intron_variant LUSC-KR 10 46112418 46112418 single base substitution C T downstream_gene_variant LUSC-KR 10 46112418 46112418 single base substitution C T intron_variant LUSC-KR 10 46115006 46115006 single base substitution G A intron_variant LUSC-KR 10 46120241 46120241 single base substitution C T intron_variant LUSC-KR 10 46120241 46120241 single base substitution C T upstream_gene_variant LUSC-KR 10 46123232 46123232 single base substitution C A intron_variant LUSC-KR 10 46124377 46124377 single base substitution T A intron_variant LUSC-KR 10 46129099 46129099 single base substitution T A intron_variant LUSC-KR 10 46132194 46132194 single base substitution G A downstream_gene_variant LUSC-KR 10 46132194 46132194 single base substitution G A intron_variant LUSC-KR 10 46134305 46134305 single base substitution T C downstream_gene_variant LUSC-KR 10 46134305 46134305 single base substitution T C intron_variant LUSC-KR 10 46135064 46135064 single base substitution G T downstream_gene_variant LUSC-KR 10 46135064 46135064 single base substitution G T intron_variant LUSC-KR 10 46136236 46136236 single base substitution C T intron_variant LUSC-KR 10 46137150 46137150 single base substitution G A intron_variant LUSC-KR 10 46146099 46146099 single base substitution C A 3_prime_UTR_variant LUSC-KR 10 46146099 46146099 single base substitution C A intron_variant LUSC-KR 10 46146099 46146099 single base substitution C A upstream_gene_variant LUSC-KR 10 46147545 46147545 single base substitution T C intron_variant LUSC-KR 10 46147545 46147545 single base substitution T C upstream_gene_variant LUSC-KR 10 46148266 46148266 single base substitution A G intron_variant LUSC-KR 10 46148266 46148266 single base substitution A G upstream_gene_variant LUSC-KR 10 46148301 46148301 single base substitution T A intron_variant LUSC-KR 10 46148301 46148301 single base substitution T A upstream_gene_variant LUSC-KR 10 46148601 46148601 single base substitution C G intron_variant LUSC-KR 10 46148601 46148601 single base substitution C G upstream_gene_variant LUSC-KR 10 46151417 46151417 single base substitution C G intron_variant LUSC-KR 10 46151445 46151445 single base substitution C G intron_variant LUSC-KR 10 46151450 46151450 single base substitution T C intron_variant LUSC-KR 10 46152622 46152622 single base substitution C A intron_variant LUSC-KR 10 46155633 46155633 single base substitution T A intron_variant LUSC-KR 10 46157532 46157532 single base substitution T C intron_variant LUSC-KR 10 46159051 46159051 single base substitution C G 5_prime_UTR_variant LUSC-KR 10 46159051 46159051 single base substitution C G exon_variant LUSC-KR 10 46159051 46159051 single base substitution C G missense_variant E41D 123G>C LUSC-KR 10 46161045 46161045 single base substitution C A intron_variant LUSC-KR 10 46165411 46165411 single base substitution A C intron_variant LUSC-KR 10 46165955 46165955 single base substitution T A intron_variant LUSC-KR 10 46167050 46167050 single base substitution T C intron_variant LUSC-KR 10 46168346 46168346 single base substitution G A upstream_gene_variant LUSC-KR 10 46168970 46168970 single base substitution C A upstream_gene_variant LUSC-KR 10 46169690 46169690 single base substitution A G upstream_gene_variant LUSC-KR 10 46170852 46170852 single base substitution G C upstream_gene_variant LUSC-US 10 46121631 46121631 single base substitution C A exon_variant LUSC-US 10 46121631 46121631 single base substitution C A intron_variant LUSC-US 10 46121631 46121631 single base substitution C A missense_variant R473L 1418G>T LUSC-US 10 46121631 46121631 single base substitution C A missense_variant R547L 1640G>T LUSC-US 10 46121646 46121646 single base substitution G A exon_variant LUSC-US 10 46121646 46121646 single base substitution G A intron_variant LUSC-US 10 46121646 46121646 single base substitution G A missense_variant S468F 1403C>T LUSC-US 10 46121646 46121646 single base substitution G A missense_variant S542F 1625C>T LUSC-US 10 46121658 46121658 single base substitution G A exon_variant LUSC-US 10 46121658 46121658 single base substitution G A intron_variant LUSC-US 10 46121658 46121658 single base substitution G A missense_variant S464F 1391C>T LUSC-US 10 46121658 46121658 single base substitution G A missense_variant S538F 1613C>T LUSC-US 10 46147483 46147483 single base substitution T C splice_acceptor_variant LUSC-US 10 46147483 46147483 single base substitution T C upstream_gene_variant MALY-DE 10 46124437 46124437 single base substitution C T intron_variant MALY-DE 10 46126767 46126767 single base substitution A C intron_variant MALY-DE 10 46136173 46136173 single base substitution C T intron_variant MALY-DE 10 46137012 46137012 single base substitution G A intron_variant MALY-DE 10 46140465 46140465 single base substitution T G downstream_gene_variant MALY-DE 10 46140465 46140465 single base substitution T G intron_variant MALY-DE 10 46142700 46142700 single base substitution G A downstream_gene_variant MALY-DE 10 46142700 46142700 single base substitution G A intron_variant MALY-DE 10 46149942 46149942 single base substitution C G intron_variant MALY-DE 10 46149942 46149942 single base substitution C G upstream_gene_variant MALY-DE 10 46150208 46150208 single base substitution A G intron_variant MALY-DE 10 46150208 46150208 single base substitution A G upstream_gene_variant MALY-DE 10 46162706 46162706 single base substitution T G intron_variant MALY-DE 10 46170770 46170770 single base substitution A G upstream_gene_variant MALY-DE 10 46171048 46171048 single base substitution T A upstream_gene_variant MELA-AU 10 46106230 46106230 single base substitution G A downstream_gene_variant MELA-AU 10 46106440 46106440 single base substitution C T downstream_gene_variant MELA-AU 10 46106514 46106514 single base substitution G A downstream_gene_variant MELA-AU 10 46106574 46106574 single base substitution G A downstream_gene_variant MELA-AU 10 46106808 46106808 single base substitution G A downstream_gene_variant MELA-AU 10 46107046 46107046 single base substitution G A downstream_gene_variant MELA-AU 10 46107099 46107099 single base substitution G A downstream_gene_variant MELA-AU 10 46107263 46107263 single base substitution G A downstream_gene_variant MELA-AU 10 46107522 46107522 single base substitution G A downstream_gene_variant MELA-AU 10 46107607 46107607 single base substitution G A downstream_gene_variant MELA-AU 10 46107917 46107917 single base substitution G A downstream_gene_variant MELA-AU 10 46107959 46107959 single base substitution G A downstream_gene_variant MELA-AU 10 46108030 46108030 single base substitution G A downstream_gene_variant MELA-AU 10 46108062 46108062 single base substitution G C downstream_gene_variant MELA-AU 10 46108171 46108171 single base substitution C T downstream_gene_variant MELA-AU 10 46108726 46108726 deletion of <=200bp A - downstream_gene_variant MELA-AU 10 46109676 46109676 single base substitution A G downstream_gene_variant MELA-AU 10 46109701 46109701 single base substitution T C downstream_gene_variant MELA-AU 10 46109708 46109708 single base substitution G A downstream_gene_variant MELA-AU 10 46110340 46110340 single base substitution G A downstream_gene_variant MELA-AU 10 46110485 46110485 single base substitution G A downstream_gene_variant MELA-AU 10 46110645 46110645 single base substitution G A downstream_gene_variant MELA-AU 10 46110892 46110892 single base substitution G A downstream_gene_variant MELA-AU 10 46111035 46111035 single base substitution G A downstream_gene_variant MELA-AU 10 46111878 46111878 single base substitution G A 3_prime_UTR_variant MELA-AU 10 46111878 46111878 single base substitution G A downstream_gene_variant MELA-AU 10 46111878 46111878 single base substitution G A exon_variant MELA-AU 10 46112193 46112193 single base substitution G A downstream_gene_variant MELA-AU 10 46112193 46112193 single base substitution G A intron_variant MELA-AU 10 46112199 46112199 single base substitution G A downstream_gene_variant MELA-AU 10 46112199 46112199 single base substitution G A intron_variant MELA-AU 10 46112324 46112325 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 10 46112324 46112325 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 10 46112759 46112759 single base substitution C T downstream_gene_variant MELA-AU 10 46112759 46112759 single base substitution C T intron_variant MELA-AU 10 46113333 46113333 single base substitution G A exon_variant MELA-AU 10 46113333 46113333 single base substitution G A intron_variant MELA-AU 10 46113656 46113656 single base substitution C T exon_variant MELA-AU 10 46113656 46113656 single base substitution C T missense_variant E208K 622G>A MELA-AU 10 46113656 46113656 single base substitution C T synonymous_variant K586K 1758G>A MELA-AU 10 46113656 46113656 single base substitution C T synonymous_variant K660K 1980G>A MELA-AU 10 46113686 46113686 single base substitution G A exon_variant MELA-AU 10 46113686 46113686 single base substitution G A missense_variant P198S 592C>T MELA-AU 10 46113686 46113686 single base substitution G A synonymous_variant L576L 1728C>T MELA-AU 10 46113686 46113686 single base substitution G A synonymous_variant L650L 1950C>T MELA-AU 10 46113760 46113760 single base substitution G A intron_variant MELA-AU 10 46114072 46114072 single base substitution G A intron_variant MELA-AU 10 46114679 46114679 single base substitution G A intron_variant MELA-AU 10 46114874 46114874 single base substitution C T intron_variant MELA-AU 10 46115618 46115618 single base substitution C T intron_variant MELA-AU 10 46115850 46115850 single base substitution A G intron_variant MELA-AU 10 46116444 46116444 single base substitution G A intron_variant MELA-AU 10 46116444 46116444 single base substitution G A upstream_gene_variant MELA-AU 10 46117193 46117193 single base substitution A C intron_variant MELA-AU 10 46117193 46117193 single base substitution A C upstream_gene_variant MELA-AU 10 46117288 46117288 single base substitution A T intron_variant MELA-AU 10 46117288 46117288 single base substitution A T upstream_gene_variant MELA-AU 10 46117514 46117514 single base substitution G A intron_variant MELA-AU 10 46117514 46117514 single base substitution G A upstream_gene_variant MELA-AU 10 46117866 46117866 single base substitution G A intron_variant MELA-AU 10 46117866 46117866 single base substitution G A upstream_gene_variant MELA-AU 10 46118203 46118203 single base substitution G A intron_variant MELA-AU 10 46118203 46118203 single base substitution G A upstream_gene_variant MELA-AU 10 46118358 46118358 single base substitution G A intron_variant MELA-AU 10 46118358 46118358 single base substitution G A upstream_gene_variant MELA-AU 10 46118733 46118733 single base substitution T C intron_variant MELA-AU 10 46118733 46118733 single base substitution T C upstream_gene_variant MELA-AU 10 46118809 46118809 single base substitution A T intron_variant MELA-AU 10 46118809 46118809 single base substitution A T upstream_gene_variant MELA-AU 10 46119580 46119581 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 46119580 46119581 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 46119937 46119937 single base substitution G A intron_variant MELA-AU 10 46119937 46119937 single base substitution G A upstream_gene_variant MELA-AU 10 46120693 46120693 single base substitution G A intron_variant MELA-AU 10 46120693 46120693 single base substitution G A upstream_gene_variant MELA-AU 10 46120703 46120703 single base substitution G A intron_variant MELA-AU 10 46120703 46120703 single base substitution G A upstream_gene_variant MELA-AU 10 46121481 46121481 single base substitution C T exon_variant MELA-AU 10 46121481 46121481 single base substitution C T intron_variant MELA-AU 10 46121481 46121481 single base substitution C T missense_variant G523E 1568G>A MELA-AU 10 46121481 46121481 single base substitution C T missense_variant G597E 1790G>A MELA-AU 10 46121709 46121709 single base substitution G A exon_variant MELA-AU 10 46121709 46121709 single base substitution G A intron_variant MELA-AU 10 46121709 46121709 single base substitution G A missense_variant S447F 1340C>T MELA-AU 10 46121709 46121709 single base substitution G A missense_variant S521F 1562C>T MELA-AU 10 46121998 46121998 single base substitution C T exon_variant MELA-AU 10 46121998 46121998 single base substitution C T intron_variant MELA-AU 10 46121998 46121998 single base substitution C T missense_variant E351K 1051G>A MELA-AU 10 46121998 46121998 single base substitution C T missense_variant E425K 1273G>A MELA-AU 10 46122185 46122186 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 10 46122185 46122186 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 46122185 46122186 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S288F 863CC>TT MELA-AU 10 46122185 46122186 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S362F 1085CC>TT MELA-AU 10 46122186 46122186 single base substitution G A exon_variant MELA-AU 10 46122186 46122186 single base substitution G A intron_variant MELA-AU 10 46122186 46122186 single base substitution G A missense_variant S288F 863C>T MELA-AU 10 46122186 46122186 single base substitution G A missense_variant S362F 1085C>T MELA-AU 10 46122199 46122199 single base substitution G A exon_variant MELA-AU 10 46122199 46122199 single base substitution G A intron_variant MELA-AU 10 46122199 46122199 single base substitution G A missense_variant H284Y 850C>T MELA-AU 10 46122199 46122199 single base substitution G A missense_variant H358Y 1072C>T MELA-AU 10 46122424 46122424 single base substitution A T exon_variant MELA-AU 10 46122424 46122424 single base substitution A T intron_variant MELA-AU 10 46122424 46122424 single base substitution A T missense_variant F209I 625T>A MELA-AU 10 46122424 46122424 single base substitution A T missense_variant F283I 847T>A MELA-AU 10 46122589 46122589 single base substitution C T intron_variant MELA-AU 10 46122623 46122623 single base substitution G A intron_variant MELA-AU 10 46122817 46122817 single base substitution G A intron_variant MELA-AU 10 46122907 46122907 single base substitution G A intron_variant MELA-AU 10 46122924 46122924 single base substitution A C intron_variant MELA-AU 10 46122925 46122925 single base substitution A T intron_variant MELA-AU 10 46123361 46123361 single base substitution C T intron_variant MELA-AU 10 46123512 46123512 single base substitution T C intron_variant MELA-AU 10 46124164 46124164 single base substitution C T intron_variant MELA-AU 10 46124234 46124234 single base substitution G A intron_variant MELA-AU 10 46124863 46124863 single base substitution G A intron_variant MELA-AU 10 46125081 46125081 single base substitution G A intron_variant MELA-AU 10 46125115 46125115 single base substitution C T intron_variant MELA-AU 10 46125221 46125221 single base substitution G A intron_variant MELA-AU 10 46125397 46125397 single base substitution G A intron_variant MELA-AU 10 46125759 46125759 single base substitution A C intron_variant MELA-AU 10 46125943 46125943 single base substitution G A intron_variant MELA-AU 10 46125993 46125993 single base substitution G A intron_variant MELA-AU 10 46126033 46126033 single base substitution G A intron_variant MELA-AU 10 46126557 46126557 single base substitution G A intron_variant MELA-AU 10 46126579 46126579 single base substitution A G intron_variant MELA-AU 10 46126632 46126632 single base substitution G A intron_variant MELA-AU 10 46126673 46126673 single base substitution G A intron_variant MELA-AU 10 46126745 46126745 single base substitution A G intron_variant MELA-AU 10 46126965 46126965 single base substitution G A intron_variant MELA-AU 10 46127667 46127667 single base substitution G T intron_variant MELA-AU 10 46127833 46127833 single base substitution G A intron_variant MELA-AU 10 46127891 46127891 single base substitution G A intron_variant MELA-AU 10 46128182 46128182 single base substitution G T intron_variant MELA-AU 10 46128226 46128226 single base substitution G A intron_variant MELA-AU 10 46129244 46129244 single base substitution C T intron_variant MELA-AU 10 46129364 46129364 single base substitution G A intron_variant MELA-AU 10 46129721 46129721 single base substitution C T intron_variant MELA-AU 10 46131103 46131103 single base substitution G A downstream_gene_variant MELA-AU 10 46131103 46131103 single base substitution G A intron_variant MELA-AU 10 46131300 46131300 single base substitution A C downstream_gene_variant MELA-AU 10 46131300 46131300 single base substitution A C intron_variant MELA-AU 10 46131526 46131526 single base substitution G A downstream_gene_variant MELA-AU 10 46131526 46131526 single base substitution G A intron_variant MELA-AU 10 46132190 46132190 single base substitution G A downstream_gene_variant MELA-AU 10 46132190 46132190 single base substitution G A intron_variant MELA-AU 10 46132669 46132669 single base substitution G A downstream_gene_variant MELA-AU 10 46132669 46132669 single base substitution G A intron_variant MELA-AU 10 46132699 46132699 single base substitution G C downstream_gene_variant MELA-AU 10 46132699 46132699 single base substitution G C intron_variant MELA-AU 10 46133062 46133062 single base substitution G A downstream_gene_variant MELA-AU 10 46133062 46133062 single base substitution G A intron_variant MELA-AU 10 46133474 46133474 single base substitution G A downstream_gene_variant MELA-AU 10 46133474 46133474 single base substitution G A intron_variant MELA-AU 10 46134255 46134255 single base substitution G A downstream_gene_variant MELA-AU 10 46134255 46134255 single base substitution G A intron_variant MELA-AU 10 46134422 46134422 single base substitution G A downstream_gene_variant MELA-AU 10 46134422 46134422 single base substitution G A intron_variant MELA-AU 10 46135508 46135508 single base substitution G A intron_variant MELA-AU 10 46135594 46135594 single base substitution G A intron_variant MELA-AU 10 46136208 46136208 single base substitution G T intron_variant MELA-AU 10 46136386 46136386 single base substitution C A intron_variant MELA-AU 10 46136395 46136395 single base substitution C T intron_variant MELA-AU 10 46136630 46136630 single base substitution G A intron_variant MELA-AU 10 46136636 46136636 single base substitution G A intron_variant MELA-AU 10 46136687 46136687 single base substitution G C intron_variant MELA-AU 10 46136807 46136807 single base substitution G A intron_variant MELA-AU 10 46136817 46136817 single base substitution G A intron_variant MELA-AU 10 46137031 46137031 single base substitution G A intron_variant MELA-AU 10 46137652 46137652 single base substitution G A intron_variant MELA-AU 10 46137766 46137766 single base substitution G A intron_variant MELA-AU 10 46138687 46138687 single base substitution G A intron_variant MELA-AU 10 46138736 46138736 single base substitution G A intron_variant MELA-AU 10 46138960 46138960 single base substitution T A downstream_gene_variant MELA-AU 10 46138960 46138960 single base substitution T A intron_variant MELA-AU 10 46140064 46140064 single base substitution A G downstream_gene_variant MELA-AU 10 46140064 46140064 single base substitution A G intron_variant MELA-AU 10 46140093 46140094 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 46140093 46140094 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 46140205 46140205 single base substitution T C downstream_gene_variant MELA-AU 10 46140205 46140205 single base substitution T C intron_variant MELA-AU 10 46140650 46140650 single base substitution G A downstream_gene_variant MELA-AU 10 46140650 46140650 single base substitution G A intron_variant MELA-AU 10 46141023 46141023 single base substitution G A downstream_gene_variant MELA-AU 10 46141023 46141023 single base substitution G A intron_variant MELA-AU 10 46141147 46141147 single base substitution C T downstream_gene_variant MELA-AU 10 46141147 46141147 single base substitution C T intron_variant MELA-AU 10 46141189 46141189 single base substitution A G downstream_gene_variant MELA-AU 10 46141189 46141189 single base substitution A G intron_variant MELA-AU 10 46141790 46141790 single base substitution C T downstream_gene_variant MELA-AU 10 46141790 46141790 single base substitution C T intron_variant MELA-AU 10 46141803 46141804 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 46141803 46141804 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 46141925 46141925 single base substitution G A downstream_gene_variant MELA-AU 10 46141925 46141925 single base substitution G A intron_variant MELA-AU 10 46142406 46142406 single base substitution G A downstream_gene_variant MELA-AU 10 46142406 46142406 single base substitution G A intron_variant MELA-AU 10 46142453 46142453 single base substitution G A downstream_gene_variant MELA-AU 10 46142453 46142453 single base substitution G A intron_variant MELA-AU 10 46142471 46142471 single base substitution G A downstream_gene_variant MELA-AU 10 46142471 46142471 single base substitution G A intron_variant MELA-AU 10 46142773 46142773 single base substitution G A downstream_gene_variant MELA-AU 10 46142773 46142773 single base substitution G A intron_variant MELA-AU 10 46143496 46143496 single base substitution A T downstream_gene_variant MELA-AU 10 46143496 46143496 single base substitution A T intron_variant MELA-AU 10 46143736 46143736 single base substitution G A downstream_gene_variant MELA-AU 10 46143736 46143736 single base substitution G A splice_region_variant MELA-AU 10 46143749 46143749 single base substitution G A downstream_gene_variant MELA-AU 10 46143749 46143749 single base substitution G A exon_variant MELA-AU 10 46143749 46143749 single base substitution G A missense_variant R114C 340C>T MELA-AU 10 46143749 46143749 single base substitution G A missense_variant R188C 562C>T MELA-AU 10 46143847 46143847 single base substitution G A downstream_gene_variant MELA-AU 10 46143847 46143847 single base substitution G A exon_variant MELA-AU 10 46143847 46143847 single base substitution G A missense_variant P155L 464C>T MELA-AU 10 46143847 46143847 single base substitution G A missense_variant P81L 242C>T MELA-AU 10 46144050 46144050 single base substitution G A downstream_gene_variant MELA-AU 10 46144050 46144050 single base substitution G A intron_variant MELA-AU 10 46144380 46144380 single base substitution A T downstream_gene_variant MELA-AU 10 46144380 46144380 single base substitution A T intron_variant MELA-AU 10 46144881 46144881 single base substitution A T downstream_gene_variant MELA-AU 10 46144881 46144881 single base substitution A T intron_variant MELA-AU 10 46144977 46144977 single base substitution G A downstream_gene_variant MELA-AU 10 46144977 46144977 single base substitution G A intron_variant MELA-AU 10 46145258 46145258 single base substitution G A downstream_gene_variant MELA-AU 10 46145258 46145258 single base substitution G A intron_variant MELA-AU 10 46145258 46145258 single base substitution G A upstream_gene_variant MELA-AU 10 46146113 46146113 single base substitution A G 3_prime_UTR_variant MELA-AU 10 46146113 46146113 single base substitution A G intron_variant MELA-AU 10 46146113 46146113 single base substitution A G upstream_gene_variant MELA-AU 10 46146487 46146487 single base substitution G A 3_prime_UTR_variant MELA-AU 10 46146487 46146487 single base substitution G A intron_variant MELA-AU 10 46146487 46146487 single base substitution G A upstream_gene_variant MELA-AU 10 46146537 46146537 single base substitution C T 3_prime_UTR_variant MELA-AU 10 46146537 46146537 single base substitution C T intron_variant MELA-AU 10 46146537 46146537 single base substitution C T upstream_gene_variant MELA-AU 10 46146635 46146635 single base substitution C T 3_prime_UTR_variant MELA-AU 10 46146635 46146635 single base substitution C T intron_variant MELA-AU 10 46146635 46146635 single base substitution C T upstream_gene_variant MELA-AU 10 46147213 46147213 single base substitution C T intron_variant MELA-AU 10 46147213 46147213 single base substitution C T upstream_gene_variant MELA-AU 10 46147828 46147828 single base substitution A T intron_variant MELA-AU 10 46147828 46147828 single base substitution A T upstream_gene_variant MELA-AU 10 46148051 46148051 single base substitution G A intron_variant MELA-AU 10 46148051 46148051 single base substitution G A upstream_gene_variant MELA-AU 10 46148103 46148103 single base substitution G A intron_variant MELA-AU 10 46148103 46148103 single base substitution G A upstream_gene_variant MELA-AU 10 46148466 46148466 single base substitution C T exon_variant MELA-AU 10 46148466 46148466 single base substitution C T intron_variant MELA-AU 10 46148466 46148466 single base substitution C T missense_variant E2K 4G>A MELA-AU 10 46148466 46148466 single base substitution C T missense_variant E76K 226G>A MELA-AU 10 46148466 46148466 single base substitution C T upstream_gene_variant MELA-AU 10 46148502 46148502 single base substitution G A 5_prime_UTR_variant MELA-AU 10 46148502 46148502 single base substitution G A exon_variant MELA-AU 10 46148502 46148502 single base substitution G A intron_variant MELA-AU 10 46148502 46148502 single base substitution G A missense_variant P64S 190C>T MELA-AU 10 46148502 46148502 single base substitution G A upstream_gene_variant MELA-AU 10 46148829 46148829 single base substitution G A intron_variant MELA-AU 10 46148829 46148829 single base substitution G A upstream_gene_variant MELA-AU 10 46149238 46149238 single base substitution C T intron_variant MELA-AU 10 46149238 46149238 single base substitution C T upstream_gene_variant MELA-AU 10 46149380 46149380 single base substitution C A intron_variant MELA-AU 10 46149380 46149380 single base substitution C A upstream_gene_variant MELA-AU 10 46149851 46149851 single base substitution G A intron_variant MELA-AU 10 46149851 46149851 single base substitution G A upstream_gene_variant MELA-AU 10 46150413 46150413 single base substitution G A intron_variant MELA-AU 10 46150483 46150483 single base substitution G A intron_variant MELA-AU 10 46151808 46151808 single base substitution G A intron_variant MELA-AU 10 46152597 46152597 single base substitution G A intron_variant MELA-AU 10 46152869 46152869 single base substitution G A intron_variant MELA-AU 10 46152965 46152965 single base substitution G A intron_variant MELA-AU 10 46153524 46153524 single base substitution C T intron_variant MELA-AU 10 46153828 46153828 single base substitution G A intron_variant MELA-AU 10 46154865 46154865 single base substitution G A intron_variant MELA-AU 10 46155127 46155127 single base substitution G A intron_variant MELA-AU 10 46155622 46155622 single base substitution A G intron_variant MELA-AU 10 46155709 46155709 single base substitution G T intron_variant MELA-AU 10 46156068 46156068 single base substitution C T intron_variant MELA-AU 10 46156419 46156419 single base substitution G A intron_variant MELA-AU 10 46156470 46156470 single base substitution C T intron_variant MELA-AU 10 46157149 46157149 single base substitution G A intron_variant MELA-AU 10 46157208 46157208 single base substitution G A intron_variant MELA-AU 10 46158185 46158185 single base substitution G A intron_variant MELA-AU 10 46158334 46158334 single base substitution C T intron_variant MELA-AU 10 46158851 46158851 single base substitution G A intron_variant MELA-AU 10 46159107 46159107 single base substitution G A 5_prime_UTR_variant MELA-AU 10 46159107 46159107 single base substitution G A exon_variant MELA-AU 10 46159107 46159107 single base substitution G A missense_variant H23Y 67C>T MELA-AU 10 46159144 46159144 single base substitution G A 5_prime_UTR_variant MELA-AU 10 46159144 46159144 single base substitution G A exon_variant MELA-AU 10 46159144 46159144 single base substitution G A synonymous_variant F10F 30C>T MELA-AU 10 46160047 46160047 single base substitution G A intron_variant MELA-AU 10 46160097 46160097 single base substitution G A intron_variant MELA-AU 10 46160209 46160210 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 10 46160580 46160580 single base substitution G A intron_variant MELA-AU 10 46160651 46160651 single base substitution G A intron_variant MELA-AU 10 46160754 46160754 single base substitution G A intron_variant MELA-AU 10 46161014 46161014 single base substitution G A intron_variant MELA-AU 10 46162013 46162013 single base substitution C T intron_variant MELA-AU 10 46162491 46162491 single base substitution G A intron_variant MELA-AU 10 46162980 46162980 single base substitution G A intron_variant MELA-AU 10 46163214 46163214 single base substitution G A intron_variant MELA-AU 10 46164153 46164153 single base substitution A G intron_variant MELA-AU 10 46164176 46164176 single base substitution C G intron_variant MELA-AU 10 46164512 46164512 single base substitution G A intron_variant MELA-AU 10 46164782 46164782 single base substitution G A intron_variant MELA-AU 10 46165150 46165150 single base substitution C T intron_variant MELA-AU 10 46165879 46165879 single base substitution G T intron_variant MELA-AU 10 46166184 46166184 single base substitution G A intron_variant MELA-AU 10 46169443 46169443 single base substitution G A upstream_gene_variant MELA-AU 10 46169636 46169636 single base substitution C T upstream_gene_variant MELA-AU 10 46169873 46169873 single base substitution G A upstream_gene_variant MELA-AU 10 46169957 46169957 single base substitution G A upstream_gene_variant MELA-AU 10 46170122 46170123 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 46170363 46170363 single base substitution G A upstream_gene_variant MELA-AU 10 46170504 46170504 single base substitution C T upstream_gene_variant MELA-AU 10 46170628 46170628 single base substitution C G upstream_gene_variant MELA-AU 10 46170715 46170715 single base substitution A G upstream_gene_variant MELA-AU 10 46170815 46170815 single base substitution C T upstream_gene_variant MELA-AU 10 46171107 46171107 single base substitution G A upstream_gene_variant MELA-AU 10 46171371 46171371 single base substitution C T upstream_gene_variant MELA-AU 10 46171688 46171688 single base substitution G A upstream_gene_variant MELA-AU 10 46171802 46171802 single base substitution G A upstream_gene_variant MELA-AU 10 46171921 46171921 single base substitution G A upstream_gene_variant MELA-AU 10 46172401 46172401 single base substitution C T upstream_gene_variant MELA-AU 10 46172468 46172468 single base substitution C T upstream_gene_variant MELA-AU 10 46172476 46172476 single base substitution C T upstream_gene_variant MELA-AU 10 46172485 46172485 single base substitution G A upstream_gene_variant MELA-AU 10 46172516 46172516 single base substitution G A upstream_gene_variant MELA-AU 10 46172642 46172642 single base substitution G A upstream_gene_variant MELA-AU 10 46172835 46172835 single base substitution C T upstream_gene_variant MELA-AU 10 46172857 46172857 single base substitution G A upstream_gene_variant MELA-AU 10 46172876 46172876 single base substitution A G upstream_gene_variant MELA-AU 10 46172884 46172884 single base substitution C T upstream_gene_variant MELA-AU 10 46172887 46172887 single base substitution T A upstream_gene_variant MELA-AU 10 46172983 46172983 single base substitution C T upstream_gene_variant MELA-AU 10 46173075 46173075 single base substitution C T upstream_gene_variant MELA-AU 10 46173100 46173100 single base substitution G A upstream_gene_variant MELA-AU 10 46173166 46173166 single base substitution G A upstream_gene_variant ORCA-IN 10 46108211 46108211 single base substitution G T downstream_gene_variant ORCA-IN 10 46113702 46113702 single base substitution C A exon_variant ORCA-IN 10 46113702 46113702 single base substitution C A missense_variant C571F 1712G>T ORCA-IN 10 46113702 46113702 single base substitution C A missense_variant C645F 1934G>T ORCA-IN 10 46113702 46113702 single base substitution C A missense_variant M192I 576G>T ORCA-IN 10 46121987 46121987 single base substitution G C exon_variant ORCA-IN 10 46121987 46121987 single base substitution G C intron_variant ORCA-IN 10 46121987 46121987 single base substitution G C synonymous_variant L354L 1062C>G ORCA-IN 10 46121987 46121987 single base substitution G C synonymous_variant L428L 1284C>G ORCA-IN 10 46162403 46162403 single base substitution G A intron_variant ORCA-IN 10 46166550 46166550 single base substitution G C intron_variant ORCA-IN 10 46171317 46171317 single base substitution G A upstream_gene_variant OV-AU 10 46112039 46112039 single base substitution T C downstream_gene_variant OV-AU 10 46112039 46112039 single base substitution T C intron_variant OV-AU 10 46115288 46115288 single base substitution T A intron_variant OV-AU 10 46116687 46116687 single base substitution A G intron_variant OV-AU 10 46116687 46116687 single base substitution A G upstream_gene_variant OV-AU 10 46116924 46116924 single base substitution C T intron_variant OV-AU 10 46116924 46116924 single base substitution C T upstream_gene_variant OV-AU 10 46116963 46116963 single base substitution G C intron_variant OV-AU 10 46116963 46116963 single base substitution G C upstream_gene_variant OV-AU 10 46125262 46125262 single base substitution G T intron_variant OV-AU 10 46125705 46125705 single base substitution T A intron_variant OV-AU 10 46137542 46137542 single base substitution C A intron_variant OV-AU 10 46146523 46146523 single base substitution G A 3_prime_UTR_variant OV-AU 10 46146523 46146523 single base substitution G A intron_variant OV-AU 10 46146523 46146523 single base substitution G A upstream_gene_variant OV-AU 10 46149305 46149305 single base substitution C T intron_variant OV-AU 10 46149305 46149305 single base substitution C T upstream_gene_variant OV-AU 10 46150996 46150996 single base substitution A C intron_variant OV-AU 10 46166860 46166860 single base substitution A G intron_variant OV-AU 10 46170993 46170993 single base substitution A C upstream_gene_variant OV-AU 10 46171287 46171287 single base substitution G T upstream_gene_variant PACA-AU 10 46113028 46113028 single base substitution A G downstream_gene_variant PACA-AU 10 46113028 46113028 single base substitution A G intron_variant PACA-AU 10 46116972 46116972 single base substitution C T intron_variant PACA-AU 10 46116972 46116972 single base substitution C T upstream_gene_variant PACA-AU 10 46121526 46121526 single base substitution A G exon_variant PACA-AU 10 46121526 46121526 single base substitution A G intron_variant PACA-AU 10 46121526 46121526 single base substitution A G missense_variant L508S 1523T>C PACA-AU 10 46121526 46121526 single base substitution A G missense_variant L582S 1745T>C PACA-AU 10 46126420 46126420 single base substitution A G intron_variant PACA-AU 10 46127656 46127656 single base substitution A T intron_variant PACA-AU 10 46128977 46128977 single base substitution A G intron_variant PACA-AU 10 46130954 46130954 single base substitution T C downstream_gene_variant PACA-AU 10 46130954 46130954 single base substitution T C intron_variant PACA-AU 10 46131322 46131322 single base substitution G A downstream_gene_variant PACA-AU 10 46131322 46131322 single base substitution G A intron_variant PACA-AU 10 46142300 46142300 single base substitution C T downstream_gene_variant PACA-AU 10 46142300 46142300 single base substitution C T intron_variant PACA-AU 10 46143861 46143861 single base substitution T C downstream_gene_variant PACA-AU 10 46143861 46143861 single base substitution T C exon_variant PACA-AU 10 46143861 46143861 single base substitution T C synonymous_variant Q150Q 450A>G PACA-AU 10 46143861 46143861 single base substitution T C synonymous_variant Q76Q 228A>G PACA-AU 10 46162364 46162364 single base substitution G C intron_variant PACA-AU 10 46164416 46164416 single base substitution C T intron_variant PACA-AU 10 46167064 46167064 single base substitution G A intron_variant PACA-AU 10 46167875 46167875 single base substitution A G 5_prime_UTR_variant PACA-AU 10 46167875 46167875 single base substitution A G exon_variant PACA-AU 10 46167875 46167875 single base substitution A G intron_variant PACA-AU 10 46167875 46167875 single base substitution A G upstream_gene_variant PACA-AU 10 46168214 46168214 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 10 46168214 46168214 single base substitution C A upstream_gene_variant PACA-AU 10 46169225 46169233 deletion of <=200bp GGCATTGAT - upstream_gene_variant PACA-CA 10 46109399 46109399 single base substitution G A downstream_gene_variant PACA-CA 10 46121331 46121331 single base substitution C A intron_variant PACA-CA 10 46121331 46121331 single base substitution C A upstream_gene_variant PACA-CA 10 46127281 46127281 single base substitution A G intron_variant PACA-CA 10 46129476 46129476 single base substitution A T intron_variant PACA-CA 10 46136105 46136105 insertion of <=200bp - T intron_variant PACA-CA 10 46147441 46147441 single base substitution G A exon_variant PACA-CA 10 46147441 46147441 single base substitution G A missense_variant R101C 301C>T PACA-CA 10 46147441 46147441 single base substitution G A missense_variant R27C 79C>T PACA-CA 10 46147441 46147441 single base substitution G A upstream_gene_variant PACA-CA 10 46148673 46148673 single base substitution T C intron_variant PACA-CA 10 46148673 46148673 single base substitution T C upstream_gene_variant PACA-CA 10 46154470 46154470 single base substitution T C intron_variant PACA-CA 10 46162979 46162979 single base substitution C A intron_variant PACA-CA 10 46164716 46164716 single base substitution C T intron_variant PACA-CA 10 46167454 46167457 deletion of <=200bp AGTT - intron_variant PACA-CA 10 46171462 46171462 single base substitution A G upstream_gene_variant PACA-CA 10 46171541 46171541 single base substitution A G upstream_gene_variant PACA-CA 10 46171748 46171748 single base substitution C T upstream_gene_variant PACA-CA 10 46172188 46172188 single base substitution G A upstream_gene_variant PAEN-AU 10 46126757 46126757 single base substitution T C intron_variant PAEN-AU 10 46154306 46154306 single base substitution A G intron_variant PAEN-IT 10 46109521 46109521 single base substitution G T downstream_gene_variant PAEN-IT 10 46117091 46117091 single base substitution G T intron_variant PAEN-IT 10 46117091 46117091 single base substitution G T upstream_gene_variant PAEN-IT 10 46134825 46134825 single base substitution G T downstream_gene_variant PAEN-IT 10 46134825 46134825 single base substitution G T intron_variant PAEN-IT 10 46153210 46153210 single base substitution G C intron_variant PBCA-DE 10 46115644 46115644 single base substitution T C intron_variant PBCA-DE 10 46118131 46118131 deletion of <=200bp C - intron_variant PBCA-DE 10 46118131 46118131 deletion of <=200bp C - upstream_gene_variant PBCA-DE 10 46120762 46120762 deletion of <=200bp T - intron_variant PBCA-DE 10 46120762 46120762 deletion of <=200bp T - upstream_gene_variant PBCA-DE 10 46128250 46128250 single base substitution G A intron_variant PBCA-DE 10 46133935 46133935 insertion of <=200bp - A downstream_gene_variant PBCA-DE 10 46133935 46133935 insertion of <=200bp - A intron_variant PBCA-DE 10 46135176 46135176 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 10 46135176 46135176 insertion of <=200bp - T intron_variant PBCA-DE 10 46136064 46136064 insertion of <=200bp - T intron_variant PBCA-DE 10 46136068 46136068 deletion of <=200bp A - intron_variant PBCA-DE 10 46136587 46136587 single base substitution G A intron_variant PBCA-DE 10 46170357 46170357 single base substitution C T upstream_gene_variant PRAD-CA 10 46132330 46132330 single base substitution T C downstream_gene_variant PRAD-CA 10 46132330 46132330 single base substitution T C intron_variant PRAD-CA 10 46145687 46145687 single base substitution G C 3_prime_UTR_variant PRAD-CA 10 46145687 46145687 single base substitution G C intron_variant PRAD-CA 10 46145687 46145687 single base substitution G C upstream_gene_variant PRAD-CA 10 46158499 46158499 single base substitution T C intron_variant PRAD-CA 10 46163196 46163196 single base substitution C T intron_variant PRAD-CA 10 46172479 46172479 single base substitution T A upstream_gene_variant PRAD-UK 10 46115183 46115183 single base substitution A C intron_variant PRAD-UK 10 46131354 46131354 single base substitution A T downstream_gene_variant PRAD-UK 10 46131354 46131354 single base substitution A T intron_variant PRAD-UK 10 46137979 46137979 single base substitution C T intron_variant PRAD-UK 10 46158615 46158615 single base substitution G T intron_variant PRAD-UK 10 46162822 46162845 deletion of <=200bp TCTATAAAAGCTCTATATACAAGA - intron_variant PRAD-UK 10 46172799 46172799 single base substitution C T upstream_gene_variant READ-US 10 46148454 46148454 single base substitution C A exon_variant READ-US 10 46148454 46148454 single base substitution C A intron_variant READ-US 10 46148454 46148454 single base substitution C A missense_variant D6Y 16G>T READ-US 10 46148454 46148454 single base substitution C A missense_variant D80Y 238G>T READ-US 10 46148454 46148454 single base substitution C A upstream_gene_variant RECA-EU 10 46106938 46106938 single base substitution G C downstream_gene_variant RECA-EU 10 46120836 46120836 single base substitution G A intron_variant RECA-EU 10 46120836 46120836 single base substitution G A upstream_gene_variant RECA-EU 10 46144310 46144310 single base substitution T A downstream_gene_variant RECA-EU 10 46144310 46144310 single base substitution T A intron_variant RECA-EU 10 46147039 46147039 single base substitution T G 3_prime_UTR_variant RECA-EU 10 46147039 46147039 single base substitution T G intron_variant RECA-EU 10 46147039 46147039 single base substitution T G upstream_gene_variant RECA-EU 10 46159492 46159492 single base substitution C T intron_variant RECA-EU 10 46162122 46162122 single base substitution T A intron_variant SKCA-BR 10 46111989 46111989 single base substitution A G 3_prime_UTR_variant SKCA-BR 10 46111989 46111989 single base substitution A G downstream_gene_variant SKCA-BR 10 46111989 46111989 single base substitution A G exon_variant SKCA-BR 10 46111989 46111989 single base substitution A G synonymous_variant R619R 1857T>C SKCA-BR 10 46111989 46111989 single base substitution A G synonymous_variant R693R 2079T>C SKCA-BR 10 46112228 46112228 single base substitution G A downstream_gene_variant SKCA-BR 10 46112228 46112228 single base substitution G A intron_variant SKCA-BR 10 46112533 46112537 deletion of <=200bp AAAAG - downstream_gene_variant SKCA-BR 10 46112533 46112537 deletion of <=200bp AAAAG - intron_variant SKCA-BR 10 46112537 46112537 single base substitution G A downstream_gene_variant SKCA-BR 10 46112537 46112537 single base substitution G A intron_variant SKCA-BR 10 46113039 46113039 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 10 46113039 46113039 insertion of <=200bp - GA intron_variant SKCA-BR 10 46114733 46114733 single base substitution C T intron_variant SKCA-BR 10 46116656 46116656 single base substitution C T intron_variant SKCA-BR 10 46116656 46116656 single base substitution C T upstream_gene_variant SKCA-BR 10 46120656 46120656 single base substitution C T intron_variant SKCA-BR 10 46120656 46120656 single base substitution C T upstream_gene_variant SKCA-BR 10 46125581 46125581 single base substitution G A intron_variant SKCA-BR 10 46126586 46126586 single base substitution G A intron_variant SKCA-BR 10 46126789 46126789 single base substitution G A intron_variant SKCA-BR 10 46126818 46126819 deletion of <=200bp TA - intron_variant SKCA-BR 10 46129872 46129872 single base substitution G A intron_variant SKCA-BR 10 46131647 46131647 single base substitution C T downstream_gene_variant SKCA-BR 10 46131647 46131647 single base substitution C T intron_variant SKCA-BR 10 46131898 46131898 single base substitution A G downstream_gene_variant SKCA-BR 10 46131898 46131898 single base substitution A G intron_variant SKCA-BR 10 46132452 46132453 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 10 46132452 46132453 deletion of <=200bp GA - intron_variant SKCA-BR 10 46134709 46134709 single base substitution C A downstream_gene_variant SKCA-BR 10 46134709 46134709 single base substitution C A intron_variant SKCA-BR 10 46135152 46135152 single base substitution C T downstream_gene_variant SKCA-BR 10 46135152 46135152 single base substitution C T intron_variant SKCA-BR 10 46135683 46135683 single base substitution A C intron_variant SKCA-BR 10 46135683 46135683 single base substitution A C splice_region_variant SKCA-BR 10 46145057 46145057 single base substitution A G downstream_gene_variant SKCA-BR 10 46145057 46145057 single base substitution A G intron_variant SKCA-BR 10 46145219 46145219 single base substitution G A downstream_gene_variant SKCA-BR 10 46145219 46145219 single base substitution G A exon_variant SKCA-BR 10 46145219 46145219 single base substitution G A intron_variant SKCA-BR 10 46145258 46145258 single base substitution G A downstream_gene_variant SKCA-BR 10 46145258 46145258 single base substitution G A intron_variant SKCA-BR 10 46145258 46145258 single base substitution G A upstream_gene_variant SKCA-BR 10 46146541 46146541 single base substitution C T 3_prime_UTR_variant SKCA-BR 10 46146541 46146541 single base substitution C T intron_variant SKCA-BR 10 46146541 46146541 single base substitution C T upstream_gene_variant SKCA-BR 10 46148203 46148203 single base substitution C T intron_variant SKCA-BR 10 46148203 46148203 single base substitution C T upstream_gene_variant SKCA-BR 10 46148766 46148766 single base substitution G A intron_variant SKCA-BR 10 46148766 46148766 single base substitution G A upstream_gene_variant SKCA-BR 10 46151793 46151793 single base substitution A T intron_variant SKCA-BR 10 46151796 46151796 single base substitution C A intron_variant SKCA-BR 10 46154584 46154584 single base substitution G A intron_variant SKCA-BR 10 46157622 46157622 single base substitution C T intron_variant SKCA-BR 10 46159815 46159815 single base substitution C T intron_variant SKCA-BR 10 46163783 46163783 single base substitution G A intron_variant SKCA-BR 10 46171549 46171549 single base substitution A C upstream_gene_variant SKCM-US 10 46113685 46113685 single base substitution G A exon_variant SKCM-US 10 46113685 46113685 single base substitution G A missense_variant P198L 593C>T SKCM-US 10 46113685 46113685 single base substitution G A missense_variant P577S 1729C>T SKCM-US 10 46113685 46113685 single base substitution G A missense_variant P651S 1951C>T SKCM-US 10 46121451 46121451 single base substitution T G exon_variant SKCM-US 10 46121451 46121451 single base substitution T G intron_variant SKCM-US 10 46121451 46121451 single base substitution T G missense_variant E533A 1598A>C SKCM-US 10 46121451 46121451 single base substitution T G missense_variant E607A 1820A>C SKCM-US 10 46121878 46121878 single base substitution T C exon_variant SKCM-US 10 46121878 46121878 single base substitution T C intron_variant SKCM-US 10 46121878 46121878 single base substitution T C missense_variant S391G 1171A>G SKCM-US 10 46121878 46121878 single base substitution T C missense_variant S465G 1393A>G SKCM-US 10 46121896 46121896 single base substitution G A exon_variant SKCM-US 10 46121896 46121896 single base substitution G A intron_variant SKCM-US 10 46121896 46121896 single base substitution G A missense_variant L385F 1153C>T SKCM-US 10 46121896 46121896 single base substitution G A missense_variant L459F 1375C>T SKCM-US 10 46122066 46122066 single base substitution G A exon_variant SKCM-US 10 46122066 46122066 single base substitution G A intron_variant SKCM-US 10 46122066 46122066 single base substitution G A missense_variant A328V 983C>T SKCM-US 10 46122066 46122066 single base substitution G A missense_variant A402V 1205C>T SKCM-US 10 46122157 46122157 single base substitution C T exon_variant SKCM-US 10 46122157 46122157 single base substitution C T intron_variant SKCM-US 10 46122157 46122157 single base substitution C T missense_variant G298R 892G>A SKCM-US 10 46122157 46122157 single base substitution C T missense_variant G372R 1114G>A SKCM-US 10 46122243 46122243 single base substitution T G exon_variant SKCM-US 10 46122243 46122243 single base substitution T G intron_variant SKCM-US 10 46122243 46122243 single base substitution T G missense_variant H269P 806A>C SKCM-US 10 46122243 46122243 single base substitution T G missense_variant H343P 1028A>C SKCM-US 10 46122313 46122313 single base substitution C A exon_variant SKCM-US 10 46122313 46122313 single base substitution C A intron_variant SKCM-US 10 46122313 46122313 single base substitution C A missense_variant D246Y 736G>T SKCM-US 10 46122313 46122313 single base substitution C A missense_variant D320Y 958G>T SKCM-US 10 46122504 46122504 single base substitution G A exon_variant SKCM-US 10 46122504 46122504 single base substitution G A intron_variant SKCM-US 10 46122504 46122504 single base substitution G A missense_variant P182L 545C>T SKCM-US 10 46122504 46122504 single base substitution G A missense_variant P256L 767C>T SKCM-US 10 46143839 46143839 single base substitution C T downstream_gene_variant SKCM-US 10 46143839 46143839 single base substitution C T exon_variant SKCM-US 10 46143839 46143839 single base substitution C T missense_variant D158N 472G>A SKCM-US 10 46143839 46143839 single base substitution C T missense_variant D84N 250G>A SKCM-US 10 46143848 46143848 single base substitution G A downstream_gene_variant SKCM-US 10 46143848 46143848 single base substitution G A exon_variant SKCM-US 10 46143848 46143848 single base substitution G A missense_variant P155S 463C>T SKCM-US 10 46143848 46143848 single base substitution G A missense_variant P81S 241C>T SKCM-US 10 46148466 46148466 single base substitution C T exon_variant SKCM-US 10 46148466 46148466 single base substitution C T intron_variant SKCM-US 10 46148466 46148466 single base substitution C T missense_variant E2K 4G>A SKCM-US 10 46148466 46148466 single base substitution C T missense_variant E76K 226G>A SKCM-US 10 46148466 46148466 single base substitution C T upstream_gene_variant SKCM-US 10 46148504 46148504 single base substitution A G 5_prime_UTR_variant SKCM-US 10 46148504 46148504 single base substitution A G exon_variant SKCM-US 10 46148504 46148504 single base substitution A G intron_variant SKCM-US 10 46148504 46148504 single base substitution A G missense_variant I63T 188T>C SKCM-US 10 46148504 46148504 single base substitution A G upstream_gene_variant SKCM-US 10 46159002 46159002 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 10 46159002 46159002 single base substitution G A exon_variant SKCM-US 10 46159002 46159002 single base substitution G A stop_gained R58* 172C>T SKCM-US 10 46159129 46159129 single base substitution C T 5_prime_UTR_variant SKCM-US 10 46159129 46159129 single base substitution C T exon_variant SKCM-US 10 46159129 46159129 single base substitution C T missense_variant M15I 45G>A STAD-US 10 46121425 46121425 deletion of <=200bp G - exon_variant STAD-US 10 46121425 46121425 deletion of <=200bp G - frameshift_variant Q542 STAD-US 10 46121425 46121425 deletion of <=200bp G - frameshift_variant Q616 STAD-US 10 46121425 46121425 deletion of <=200bp G - intron_variant STAD-US 10 46121505 46121505 single base substitution C T exon_variant STAD-US 10 46121505 46121505 single base substitution C T intron_variant STAD-US 10 46121505 46121505 single base substitution C T missense_variant G515D 1544G>A STAD-US 10 46121505 46121505 single base substitution C T missense_variant G589D 1766G>A STAD-US 10 46121766 46121766 single base substitution A G exon_variant STAD-US 10 46121766 46121766 single base substitution A G intron_variant STAD-US 10 46121766 46121766 single base substitution A G missense_variant L428P 1283T>C STAD-US 10 46121766 46121766 single base substitution A G missense_variant L502P 1505T>C STAD-US 10 46121821 46121821 single base substitution G A exon_variant STAD-US 10 46121821 46121821 single base substitution G A intron_variant STAD-US 10 46121821 46121821 single base substitution G A missense_variant H410Y 1228C>T STAD-US 10 46121821 46121821 single base substitution G A missense_variant H484Y 1450C>T STAD-US 10 46121887 46121887 single base substitution G A exon_variant STAD-US 10 46121887 46121887 single base substitution G A intron_variant STAD-US 10 46121887 46121887 single base substitution G A missense_variant R388W 1162C>T STAD-US 10 46121887 46121887 single base substitution G A missense_variant R462W 1384C>T STAD-US 10 46121925 46121925 single base substitution A G exon_variant STAD-US 10 46121925 46121925 single base substitution A G intron_variant STAD-US 10 46121925 46121925 single base substitution A G missense_variant L375P 1124T>C STAD-US 10 46121925 46121925 single base substitution A G missense_variant L449P 1346T>C STAD-US 10 46121968 46121968 single base substitution A T exon_variant STAD-US 10 46121968 46121968 single base substitution A T intron_variant STAD-US 10 46121968 46121968 single base substitution A T missense_variant L361M 1081T>A STAD-US 10 46121968 46121968 single base substitution A T missense_variant L435M 1303T>A STAD-US 10 46159025 46159025 single base substitution A G 5_prime_UTR_variant STAD-US 10 46159025 46159025 single base substitution A G exon_variant STAD-US 10 46159025 46159025 single base substitution A G missense_variant V50A 149T>C THCA-SA 10 46122195 46122195 single base substitution A T exon_variant THCA-SA 10 46122195 46122195 single base substitution A T intron_variant THCA-SA 10 46122195 46122195 single base substitution A T missense_variant L285H 854T>A THCA-SA 10 46122195 46122195 single base substitution A T missense_variant L359H 1076T>A UCEC-US 10 46111927 46111927 single base substitution T A 3_prime_UTR_variant UCEC-US 10 46111927 46111927 single base substitution T A downstream_gene_variant UCEC-US 10 46111927 46111927 single base substitution T A exon_variant UCEC-US 10 46111927 46111927 single base substitution T A missense_variant E640V 1919A>T UCEC-US 10 46111927 46111927 single base substitution T A missense_variant E714V 2141A>T UCEC-US 10 46112007 46112007 single base substitution G A 3_prime_UTR_variant UCEC-US 10 46112007 46112007 single base substitution G A downstream_gene_variant UCEC-US 10 46112007 46112007 single base substitution G A exon_variant UCEC-US 10 46112007 46112007 single base substitution G A synonymous_variant N613N 1839C>T UCEC-US 10 46112007 46112007 single base substitution G A synonymous_variant N687N 2061C>T UCEC-US 10 46113631 46113631 single base substitution G T exon_variant UCEC-US 10 46113631 46113631 single base substitution G T missense_variant L595I 1783C>A UCEC-US 10 46113631 46113631 single base substitution G T missense_variant L669I 2005C>A UCEC-US 10 46113631 46113631 single base substitution G T missense_variant S216Y 647C>A UCEC-US 10 46113652 46113652 single base substitution T G exon_variant UCEC-US 10 46113652 46113652 single base substitution T G missense_variant E209A 626A>C UCEC-US 10 46113652 46113652 single base substitution T G missense_variant K588Q 1762A>C UCEC-US 10 46113652 46113652 single base substitution T G missense_variant K662Q 1984A>C UCEC-US 10 46113706 46113706 single base substitution C A missense_variant R191I 572G>T UCEC-US 10 46113706 46113706 single base substitution C A splice_region_variant UCEC-US 10 46113706 46113706 single base substitution C A stop_gained E570* 1708G>T UCEC-US 10 46113706 46113706 single base substitution C A stop_gained E644* 1930G>T UCEC-US 10 46121515 46121515 single base substitution G A exon_variant UCEC-US 10 46121515 46121515 single base substitution G A intron_variant UCEC-US 10 46121515 46121515 single base substitution G A missense_variant R512C 1534C>T UCEC-US 10 46121515 46121515 single base substitution G A missense_variant R586C 1756C>T UCEC-US 10 46121718 46121718 single base substitution G T exon_variant UCEC-US 10 46121718 46121718 single base substitution G T intron_variant UCEC-US 10 46121718 46121718 single base substitution G T missense_variant S444Y 1331C>A UCEC-US 10 46121718 46121718 single base substitution G T missense_variant S518Y 1553C>A UCEC-US 10 46121736 46121736 single base substitution A G exon_variant UCEC-US 10 46121736 46121736 single base substitution A G intron_variant UCEC-US 10 46121736 46121736 single base substitution A G missense_variant V438A 1313T>C UCEC-US 10 46121736 46121736 single base substitution A G missense_variant V512A 1535T>C UCEC-US 10 46121779 46121779 single base substitution C A exon_variant UCEC-US 10 46121779 46121779 single base substitution C A intron_variant UCEC-US 10 46121779 46121779 single base substitution C A stop_gained E424* 1270G>T UCEC-US 10 46121779 46121779 single base substitution C A stop_gained E498* 1492G>T UCEC-US 10 46135310 46135310 single base substitution A G 3_prime_UTR_variant UCEC-US 10 46135310 46135310 single base substitution A G exon_variant UCEC-US 10 46135310 46135310 single base substitution A G intron_variant UCEC-US 10 46135310 46135310 single base substitution A G missense_variant M150T 449T>C UCEC-US 10 46135310 46135310 single base substitution A G missense_variant M224T 671T>C UCEC-US 10 46135367 46135367 single base substitution G T 3_prime_UTR_variant UCEC-US 10 46135367 46135367 single base substitution G T exon_variant UCEC-US 10 46135367 46135367 single base substitution G T intron_variant UCEC-US 10 46135367 46135367 single base substitution G T missense_variant T131N 392C>A UCEC-US 10 46135367 46135367 single base substitution G T missense_variant T205N 614C>A UCEC-US 10 46143858 46143858 single base substitution C A downstream_gene_variant UCEC-US 10 46143858 46143858 single base substitution C A exon_variant UCEC-US 10 46143858 46143858 single base substitution C A missense_variant L151F 453G>T UCEC-US 10 46143858 46143858 single base substitution C A missense_variant L77F 231G>T UCEC-US 10 46147459 46147459 single base substitution T C exon_variant UCEC-US 10 46147459 46147459 single base substitution T C missense_variant K21E 61A>G UCEC-US 10 46147459 46147459 single base substitution T C missense_variant K95E 283A>G UCEC-US 10 46147459 46147459 single base substitution T C upstream_gene_variant UCEC-US 10 46159006 46159006 single base substitution T G 5_prime_UTR_variant UCEC-US 10 46159006 46159006 single base substitution T G exon_variant UCEC-US 10 46159006 46159006 single base substitution T G missense_variant K56N 168A>C UCEC-US 10 46159042 46159042 single base substitution A C 5_prime_UTR_variant UCEC-US 10 46159042 46159042 single base substitution A C exon_variant UCEC-US 10 46159042 46159042 single base substitution A C synonymous_variant V44V 132T>G UCEC-US 10 46159128 46159128 single base substitution C T 5_prime_UTR_variant UCEC-US 10 46159128 46159128 single base substitution C T exon_variant UCEC-US 10 46159128 46159128 single base substitution C T missense_variant G16R 46G>A UCEC-US 10 46159140 46159140 single base substitution C A 5_prime_UTR_variant UCEC-US 10 46159140 46159140 single base substitution C A exon_variant UCEC-US 10 46159140 46159140 single base substitution C A missense_variant D12Y 34G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-5-T COSM4509756 c.816C>T p.L272L Substitution - coding silent 10:45627007-45627007 - Gp5D COSM1957886 c.1499G>A p.G500E Substitution - Missense 10:45626324-45626324 - OSCC-GB_00070111 COSM3709922 c.1284C>G p.L428L Substitution - coding silent 10:45626539-45626539 - TCGA-C5-A1MI-01 COSM4837463 c.867C>G p.P289P Substitution - coding silent 10:45626956-45626956 - 504 COSM5611860 c.686C>T p.A229V Substitution - Missense 10:45639847-45639847 - I2L-P19Ta-Tumor-Biopsy COSM5359968 c.545G>A p.R182Q Substitution - Missense 10:45648318-45648318 - TCGA-EE-A3AA-06 COSM3437932 c.226G>A p.E76K Substitution - Missense 10:45653018-45653018 - YUROG COSM5370661 c.1225G>A p.A409T Substitution - Missense 10:45626598-45626598 - B80-Tumor COSM3931024 c.134C>T p.S45L Substitution - Missense 10:45663592-45663592 - TCGA-DD-A3A2-01 COSM4928904 c.2086G>C p.E696Q Substitution - Missense 10:45616534-45616534 - pfg019T COSM1638566 c.863C>T p.P288L Substitution - Missense 10:45626960-45626960 - TCGA-BR-8680-01 COSM4014276 c.1505T>C p.L502P Substitution - Missense 10:45626318-45626318 - ESO-0059 COSM1245128 c.904C>T p.Q302* Substitution - Nonsense 10:45626919-45626919 - Pat_76_A COSM5836904 c.1469C>A p.P490Q Substitution - Missense 10:45626354-45626354 - HCC158 COSM3665741 c.1278G>A p.L426L Substitution - coding silent 10:45626545-45626545 - TCGA-CJ-6031-01 COSM465660 c.1745T>C p.L582S Substitution - Missense 10:45626078-45626078 - OSCC-GB_00960111 COSM4885457 c.1934G>T p.C645F Substitution - Missense 10:45618254-45618254 - TCGA-EB-A5SG-06 COSM3867232 c.1114G>A p.G372R Substitution - Missense 10:45626709-45626709 - TCGA-B5-A0JY-01 COSM4869753 c.168A>C p.K56N Substitution - Missense 10:45663558-45663558 - TCGA-61-1740-01 COSM1321351 c.2032A>C p.S678R Substitution - Missense 10:45618156-45618156 - TCGA-B5-A11E-01 COSM918301 c.132T>G p.V44V Substitution - coding silent 10:45663594-45663594 - TCGA-CG-5721-01 COSM4014281 c.149T>C p.V50A Substitution - Missense 10:45663577-45663577 - TCGA-22-4599-01 COSM684257 c.261-2A>G p.? Unknown 10:45652035-45652035 - TCGA-CZ-5461-01 COSM465661 c.1723G>A p.G575R Substitution - Missense 10:45626100-45626100 - TCGA-EE-A2MS-06 COSM3437931 c.472G>A p.D158N Substitution - Missense 10:45648391-45648391 - HCC76 COSM3665740 c.1293T>A p.A431A Substitution - coding silent 10:45626530-45626530 - TCGA-BR-6452-01 COSM4014280 c.1303T>A p.L435M Substitution - Missense 10:45626520-45626520 - TCGA-AP-A056-01 COSM4868662 c.283A>G p.K95E Substitution - Missense 10:45652011-45652011 - 1N31-VS-1T31 COSM4974231 c.301C>T p.R101C Substitution - Missense 10:45651993-45651993 - TCGA-E9-A22B-01 COSM1474618 c.1709T>C p.L570P Substitution - Missense 10:45626114-45626114 - SNUH_G26_S1 COSM3997972 c.1220G>A p.G407E Substitution - Missense 10:45626603-45626603 - HCT8 COSM4633170 c.541C>A p.L181I Substitution - Missense 10:45648322-45648322 - LUAD-YINHD COSM348247 c.1114G>C p.G372R Substitution - Missense 10:45626709-45626709 - TCGA-CG-5726-01 COSM4014275 c.1766G>A p.G589D Substitution - Missense 10:45626057-45626057 - 8069331 COSM465660 c.1745T>C p.L582S Substitution - Missense 10:45626078-45626078 - TCGA-EE-A2MJ-06 COSM3437927 c.1393A>G p.S465G Substitution - Missense 10:45626430-45626430 - MBRep_T53 COSM306900 c.2040C>T p.Y680Y Substitution - coding silent 10:45618148-45618148 - TCGA-BH-A1F6-01 COSM5831474 c.441delA p.G148fs*4 Deletion - Frameshift 10:45648422-45648422 - TCGA-DY-A1DC-01 COSM1560787 c.238G>T p.D80Y Substitution - Missense 10:45653006-45653006 - CSCC-41-T COSM4538368 c.253G>A p.D85N Substitution - Missense 10:45652991-45652991 - TCGA-D3-A2JO-06 COSM3437935 c.45G>A p.M15I Substitution - Missense 10:45663681-45663681 - I2L-P19Ta-Tumor-Organoid COSM5359968 c.545G>A p.R182Q Substitution - Missense 10:45648318-45648318 - TCGA-B5-A0JY-01 COSM918292 c.1553C>A p.S518Y Substitution - Missense 10:45626270-45626270 - sysucc-880T COSM5461841 c.393G>T p.W131C Substitution - Missense 10:45648470-45648470 - CSCC-56-T COSM1297257 c.1562C>T p.S521F Substitution - Missense 10:45626261-45626261 - 8067520 COSM4407970 c.450A>G p.Q150Q Substitution - coding silent 10:45648413-45648413 - TCGA-AA-A010-01 COSM278880 c.562C>T p.R188C Substitution - Missense 10:45648301-45648301 - TCGA-A8-A095-01 COSM427566 c.1266G>A p.V422V Substitution - coding silent 10:45626557-45626557 - DLD1 COSM1957878 c.1871_1872insT p.L624fs*12 Insertion - Frameshift 10:45625951-45625952 - TCGA-AN-A046-01 COSM3807209 c.394G>A p.E132K Substitution - Missense 10:45648469-45648469 - TCGA-RP-A694-06 COSM4894293 c.1951C>T p.P651S Substitution - Missense 10:45618237-45618237 - TCGA-IR-A3LK-01 COSM4816890 c.1969C>T p.L657F Substitution - Missense 10:45618219-45618219 - TCGA-37-4141-01 COSM684260 c.1640G>T p.R547L Substitution - Missense 10:45626183-45626183 - 2492722 COSM5721491 c.766C>T p.P256S Substitution - Missense 10:45627057-45627057 - CSCC-20-T COSM4462993 c.1270C>A p.L424M Substitution - Missense 10:45626553-45626553 - TCGA-A6-5661-01 COSM5088702 c.2135T>C p.L712S Substitution - Missense 10:45616485-45616485 - PT49 COSM5935659 c.185-7C>T p.? Unknown 10:45653066-45653066 - 1N31-VS-1T31 COSM4974230 c.301C>T p.R101C Substitution - Missense 10:45651993-45651993 - TCGA-EQ-8122-01 COSM4014277 c.1450C>T p.H484Y Substitution - Missense 10:45626373-45626373 - TCGA-CA-6717-01 COSM1347880 c.1242C>T p.S414S Substitution - coding silent 10:45626581-45626581 - RMS206 COSM5880775 c.1893G>A p.M631I Substitution - Missense 10:45624617-45624617 - TCGA-EE-A2GO-06 COSM3437930 c.767C>T p.P256L Substitution - Missense 10:45627056-45627056 - TCGA-AP-A051-01 COSM918286 c.2141A>T p.E714V Substitution - Missense 10:45616479-45616479 - SJOS001127_D1 COSM5023330 c.957A>C p.E319D Substitution - Missense 10:45626866-45626866 - cSCCP5 COSM137984 c.1517C>T p.S506F Substitution - Missense 10:45626306-45626306 - TCGA-UB-A7MB-01 COSM4931152 c.584A>G p.Y195C Substitution - Missense 10:45639949-45639949 - XHDG04 COSM4768208 c.2092C>G p.H698D Substitution - Missense 10:45616528-45616528 - TCGA-B5-A11E-01 COSM4870401 c.132T>G p.V44V Substitution - coding silent 10:45663594-45663594 - TCGA-G4-6320-01 COSM1347879 c.1256C>T p.A419V Substitution - Missense 10:45626567-45626567 - PDA_033 COSM4999733 c.1020G>C p.Q340H Substitution - Missense 10:45626803-45626803 - 19 COSM5747124 c.434A>G p.Y145C Substitution - Missense 10:45648429-45648429 - TCGA-CD-8536-01 COSM4014278 c.1384C>T p.R462W Substitution - Missense 10:45626439-45626439 - TCGA-AD-6889-01 COSM5129306 c.1927+9C>T p.? Unknown 10:45624574-45624574 - TCGA-AP-A059-01 COSM918290 c.1930G>T p.E644* Substitution - Nonsense 10:45618258-45618258 - TCGA-B5-A0JY-01 COSM4869172 c.34G>T p.D12Y Substitution - Missense 10:45663692-45663692 - B80-Tumor COSM1745805 c.134C>T p.S45L Substitution - Missense 10:45663592-45663592 - TCGA-EE-A3AA-06 COSM1957911 c.226G>A p.E76K Substitution - Missense 10:45653018-45653018 - TCGA-AR-A2LK-01 COSM3807208 c.827G>C p.G276A Substitution - Missense 10:45626996-45626996 - B59-3 COSM1745804 c.1774C>T p.Q592* Substitution - Nonsense 10:45626049-45626049 - S0029 COSM5881899 c.23C>T p.P8L Substitution - Missense 10:45663703-45663703 - TCGA-FW-A3R5-06 COSM3867231 c.1205C>T p.A402V Substitution - Missense 10:45626618-45626618 - CSCC-41-T COSM4538367 c.253G>A p.D85N Substitution - Missense 10:45652991-45652991 - 7T COSM3709922 c.1284C>G p.L428L Substitution - coding silent 10:45626539-45626539 - 2492723 COSM5721491 c.766C>T p.P256S Substitution - Missense 10:45627057-45627057 - TCGA-29-1783-01 COSM1321350 c.651T>C p.N217N Substitution - coding silent 10:45639882-45639882 - TCGA-BS-A0UF-01 COSM918289 c.1984A>C p.K662Q Substitution - Missense 10:45618204-45618204 - TCGA-22-4599-01 COSM4859494 c.261-2A>G p.? Unknown 10:45652035-45652035 - YUGURT COSM5370662 c.993C>T p.F331F Substitution - coding silent 10:45626830-45626830 - TCGA-A5-A0GP-01 COSM918288 c.2005C>A p.L669I Substitution - Missense 10:45618183-45618183 - HCT8 COSM1957878 c.1871_1872insT p.L624fs*12 Insertion - Frameshift 10:45625951-45625952 - TCGA-D3-A2JO-06 COSM3437934 c.45G>A p.M15I Substitution - Missense 10:45663681-45663681 - TCGA-EK-A3GJ-01 COSM4852608 c.282G>A p.L94L Substitution - coding silent 10:45652012-45652012 - TCGA-CG-5721-01 COSM4014282 c.149T>C p.V50A Substitution - Missense 10:45663577-45663577 - T3724 COSM4742496 c.1074T>C p.H358H Substitution - coding silent 10:45626749-45626749 - 61 COSM5738877 c.377G>A p.S126N Substitution - Missense 10:45648486-45648486 - TCGA-AP-A059-01 COSM918297 c.614C>A p.T205N Substitution - Missense 10:45639919-45639919 - 2492721 COSM5721491 c.766C>T p.P256S Substitution - Missense 10:45627057-45627057 - TCGA-AA-3663-01 COSM1957879 c.1871delT p.L624fs*8 Deletion - Frameshift 10:45625952-45625952 - TCGA-EE-A3AD-06 COSM3437926 c.1820A>C p.E607A Substitution - Missense 10:45626003-45626003 - TCGA-D8-A1XQ-01 COSM3807207 c.1557T>G p.S519S Substitution - coding silent 10:45626266-45626266 - 400 COSM1638566 c.863C>T p.P288L Substitution - Missense 10:45626960-45626960 - ESCC_BICR_024T COSM3997972 c.1220G>A p.G407E Substitution - Missense 10:45626603-45626603 - STC252 COSM5050193 c.1669T>C p.S557P Substitution - Missense 10:45626154-45626154 - B59-3-Tumor COSM1745804 c.1774C>T p.Q592* Substitution - Nonsense 10:45626049-45626049 - TCGA-BF-A3DL-01 COSM4904988 c.958G>T p.D320Y Substitution - Missense 10:45626865-45626865 - TCGA-D1-A15X-01 COSM918293 c.1535T>C p.V512A Substitution - Missense 10:45626288-45626288 - TCGA-ER-A3ES-06 COSM3437929 c.1028A>C p.H343P Substitution - Missense 10:45626795-45626795 - TCGA-AR-A0TX-01 COSM427568 c.524A>G p.D175G Substitution - Missense 10:45648339-45648339 - TCGA-AP-A0LM-01 COSM918291 c.1756C>T p.R586C Substitution - Missense 10:45626067-45626067 - CN-AML-CR-60-Dx COSM5427846 c.1130G>A p.S377N Substitution - Missense 10:45626693-45626693 - ESCC_108 COSM1347879 c.1256C>T p.A419V Substitution - Missense 10:45626567-45626567 - TCGA-AP-A056-01 COSM918299 c.283A>G p.K95E Substitution - Missense 10:45652011-45652011 - EGC15 COSM5050194 c.1279C>A p.L427I Substitution - Missense 10:45626544-45626544 - TCGA-DI-A0WH-01 COSM918295 c.1132A>G p.N378D Substitution - Missense 10:45626691-45626691 - pfg052T COSM4754277 c.183A>T p.E61D Substitution - Missense 10:45663543-45663543 - HCC2998 COSM1957888 c.1365G>A p.E455E Substitution - coding silent 10:45626458-45626458 - TCGA-AX-A05Z-01 COSM918287 c.2061C>T p.N687N Substitution - coding silent 10:45616559-45616559 - TCGA-FW-A3R5-06 COSM3867233 c.463C>T p.P155S Substitution - Missense 10:45648400-45648400 - SJOS001107_M1 COSM5024284 c.1200A>C p.S400S Substitution - coding silent 10:45626623-45626623 - TCGA-FW-A3R5-06 COSM3867234 c.188T>C p.I63T Substitution - Missense 10:45653056-45653056 - 49M COSM3867233 c.463C>T p.P155S Substitution - Missense 10:45648400-45648400 - T3020 COSM4742495 c.1651_1652insG p.E551fs*4 Insertion - Frameshift 10:45626171-45626172 - TCGA-A6-6780-01 COSM5092485 c.896delT p.L299fs*73 Deletion - Frameshift 10:45626927-45626927 - S0029 COSM5881900 c.23C>T p.P8L Substitution - Missense 10:45663703-45663703 - PD17981a COSM5767879 c.1029T>C p.H343H Substitution - coding silent 10:45626794-45626794 - TCGA-AA-3811-01 COSM5108498 c.328+8T>C p.? Unknown 10:45651958-45651958 - sysucc-783T COSM5483468 c.2044T>A p.C682S Substitution - Missense 10:45618144-45618144 - 2492720 COSM5721491 c.766C>T p.P256S Substitution - Missense 10:45627057-45627057 - TCGA-CM-6162-01 COSM1347879 c.1256C>T p.A419V Substitution - Missense 10:45626567-45626567 - TCGA-FW-A3R5-06 COSM3867235 c.188T>C p.I63T Substitution - Missense 10:45653056-45653056 - T207 COSM4742497 c.579T>C p.S193S Substitution - coding silent 10:45639954-45639954 - pfg052T COSM4754278 c.183A>T p.E61D Substitution - Missense 10:45663543-45663543 - TCGA-DY-A1DC-01 COSM4946296 c.238G>T p.D80Y Substitution - Missense 10:45653006-45653006 - TCGA-39-5028-01 COSM684259 c.1625C>T p.S542F Substitution - Missense 10:45626198-45626198 - TCGA-CF-A3MH-01 COSM1297257 c.1562C>T p.S521F Substitution - Missense 10:45626261-45626261 - PT49 COSM5935658 c.185-7C>T p.? Unknown 10:45653066-45653066 - sysucc-274T COSM5475437 c.339C>T p.D113D Substitution - coding silent 10:45648524-45648524 - B80 COSM1745805 c.134C>T p.S45L Substitution - Missense 10:45663592-45663592 - 35M COSM5583115 c.462T>C p.F154F Substitution - coding silent 10:45648401-45648401 - TCGA-CK-5916-01 COSM3686955 c.2119G>A p.A707T Substitution - Missense 10:45616501-45616501 - TCGA-DB-5274-01 COSM3967072 c.689A>G p.K230R Substitution - Missense 10:45639844-45639844 - TCGA-F1-6874-01 COSM4014279 c.1346T>C p.L449P Substitution - Missense 10:45626477-45626477 - TCGA-EK-A3GJ-01 COSM4852609 c.282G>A p.L94L Substitution - coding silent 10:45652012-45652012 - C086 COSM5541992 c.1208C>T p.S403L Substitution - Missense 10:45626615-45626615 - TCGA-B5-A0JY-01 COSM918303 c.34G>T p.D12Y Substitution - Missense 10:45663692-45663692 - CSCC-56-T COSM4476559 c.2077C>T p.R693C Substitution - Missense 10:45616543-45616543 - ESCC_65 COSM5633544 c.1942C>G p.H648D Substitution - Missense 10:45618246-45618246 - TCGA-60-2698-01 COSM684258 c.1613C>T p.S538F Substitution - Missense 10:45626210-45626210 - TCGA-EE-A29M-06 COSM3437928 c.1375C>T p.L459F Substitution - Missense 10:45626448-45626448 - TCGA-FS-A1ZZ-06 COSM3437933 c.172C>T p.R58* Substitution - Nonsense 10:45663554-45663554 - TCGA-B5-A0JY-01 COSM918300 c.168A>C p.K56N Substitution - Missense 10:45663558-45663558 - 9227_T COSM5042279 c.442G>A p.G148R Substitution - Missense 10:45648421-45648421 - TCGA-12-0691 COSM2154152 c.1509G>C p.Q503H Substitution - Missense 10:45626314-45626314 - TCGA-C4-A0F6-01 COSM415022 c.1734C>A p.S578R Substitution - Missense 10:45626089-45626089 - LIM2405 COSM1957879 c.1871delT p.L624fs*8 Deletion - Frameshift 10:45625952-45625952 - QC2-30-T2 COSM5653682 c.656T>C p.I219T Substitution - Missense 10:45639877-45639877 - 3765_T COSM3978523 c.866C>T p.P289L Substitution - Missense 10:45626957-45626957 - TCGA-BS-A0TA-01 COSM918296 c.671T>C p.M224T Substitution - Missense 10:45639862-45639862 - TCGA-B5-A0K9-01 COSM918302 c.46G>A p.G16R Substitution - Missense 10:45663680-45663680 - Pat_24_A COSM5836905 c.1462G>A p.V488M Substitution - Missense 10:45626361-45626361 - pfg060T COSM4754270 c.794G>A p.R265H Substitution - Missense 10:45627029-45627029 - HCT15 COSM1957878 c.1871_1872insT p.L624fs*12 Insertion - Frameshift 10:45625951-45625952 - DU-145 COSM1675200 c.1300G>T p.G434W Substitution - Missense 10:45626523-45626523 - SJOS001107_M2 COSM5024284 c.1200A>C p.S400S Substitution - coding silent 10:45626623-45626623 - TCGA-BS-A0UF-01 COSM918298 c.453G>T p.L151F Substitution - Missense 10:45648410-45648410 - HCC158T COSM3665741 c.1278G>A p.L426L Substitution - coding silent 10:45626545-45626545 - HCC76T COSM3665740 c.1293T>A p.A431A Substitution - coding silent 10:45626530-45626530 - 587222 COSM1183072 c.1159G>T p.E387* Substitution - Nonsense 10:45626664-45626664 - 526LT COSM1957901 c.604G>C p.D202H Substitution - Missense 10:45639929-45639929 - 1N51-VS-1T51 COSM4976605 c.1806C>G p.L602L Substitution - coding silent 10:45626017-45626017 - LUAD-S01315 COSM343853 c.295G>T p.A99S Substitution - Missense 10:45651999-45651999 - TCGA-B5-A0K9-01 COSM4869862 c.46G>A p.G16R Substitution - Missense 10:45663680-45663680 - TCGA-AX-A0J0-01 COSM918294 c.1492G>T p.E498* Substitution - Nonsense 10:45626331-45626331 - TCGA-FS-A1ZZ-06 COSM1957913 c.172C>T p.R58* Substitution - Nonsense 10:45663554-45663554 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.89003;Hs.89029 10q11.22

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.717+27T>G 10 46135237 ESCA A G Missense p.L449P c.1346T>C 10 46121925 STAD A G Missense p.L570P c.1709T>C 10 46121562 BRCA A G Missense p.L582S c.1745T>C 10 46121526 RCCC A G Missense p.M224T c.671T>C 10 46135310 UCEC A G Synonymous p.C279C c.837T>C 10 46122434 CM C A Missense p.D320Y c.958G>T 10 46122313 CM C A Missense p.G535W c.1603G>T 10 46121668 HNSC C A Missense p.R547L c.1640G>T 10 46121631 LUSC C T Missense p.D158N c.472G>A 10 46143839 CM C T Missense p.E76K c.226G>A 10 46148466 CM C T Missense p.G16R c.46G>A 10 46159128 UCEC C T Missense p.G575R c.1723G>A 10 46121548 RCCC C T Missense p.G589D c.1766G>A 10 46121505 STAD C T Missense p.M15I c.45G>A 10 46159129 CM C T Synonymous p.E545E c.1635G>A 10 46121636 HNSC C T Synonymous p.Q340Q c.1020G>A 10 46122251 CM C T Synonymous p.V422V c.1266G>A 10 46122005 BRCA G A Missense p.L459F c.1375C>T 10 46121896 CM G A Missense p.P256L c.767C>T 10 46122504 CM G A Missense p.P288L c.863C>T 10 46122408 STAD G A Missense p.S521F c.1562C>T 10 46121709 BLCA G A Missense p.S542F c.1625C>T 10 46121646 LUSC G A Nonsense p.Q302* c.904C>T 10 46122367 ESCA G A Nonsense p.R58* c.172C>T 10 46159002 CM G A Synonymous p.V335V c.1005C>T 10 46122266 CM G C Missense p.Q302E c.904C>G 10 46122367 STAD G - Frameshift p.Q616Sfs*2 c.1846delC 10 46121425 STAD G T Missense p.L669I c.2005C>A 10 46113631 UCEC G T Missense p.S578R c.1734C>A 10 46121537 BLCA T A Missense p.D202V c.605A>T 10 46135376 BRCA T C Missense p.K230R c.689A>G 10 46135292 LGG T C Missense p.S465G c.1393A>G 10 46121878 CM T C SpliceAcceptorSNV . c.261-2A>G 10 46147483 LUSC T G Missense p.E607A c.1820A>C 10 46121451 CM T G Missense p.H343P c.1028A>C 10 46122243 CM