Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 5 149011699 149011699 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr5:149011699G>T c.1973G>T c.(1972-1974)gGc>gTc p.G658V BLCA 5 148977402 148977402 + Missense_Mutation SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr5:148977402G>A c.70G>A c.(70-72)Gag>Aag p.E24K BLCA 5 148999931 148999931 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr5:148999931C>T c.909C>T c.(907-909)ttC>ttT p.F303F BLCA 5 149003653 149003653 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr5:149003653C>T c.1414C>T c.(1414-1416)Cgc>Tgc p.R472C BLCA 5 149006694 149006694 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr5:149006694C>G c.1520C>G c.(1519-1521)cCt>cGt p.P507R BLCA 5 149008431 149008431 + Missense_Mutation SNP G G C TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr5:149008431G>C c.1720G>C c.(1720-1722)Gag>Cag p.E574Q BLCA 5 149011634 149011634 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr5:149011634C>A c.1908C>A c.(1906-1908)gaC>gaA p.D636E BLCA 5 149011679 149011679 + Silent SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr5:149011679G>A c.1953G>A c.(1951-1953)caG>caA p.Q651Q BRCA 5 149001472 149001473 + Frame_Shift_Del DEL AT AT - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr5:149001472_149001473delAT c.1182_1183delAT c.(1180-1185)acatacfs p.Y395fs BRCA 5 149008411 149008411 + Missense_Mutation SNP A A G TCGA-MS-A51U-01A-31D-A25Q-09 TCGA-MS-A51U-10A-01D-A25Q-09 g.chr5:149008411A>G c.1700A>G c.(1699-1701)tAc>tGc p.Y567C CESC 5 148977374 148977374 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:148977374G>A c.42G>A c.(40-42)ggG>ggA p.G14G CESC 5 149008510 149008510 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 g.chr5:149008510C>G c.1799C>G c.(1798-1800)tCt>tGt p.S600C COAD 5 148996287 148996287 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:148996287G>A c.616G>A c.(616-618)Gtg>Atg p.V206M COAD 5 148998553 148998560 + Frame_Shift_Del DEL TGTGTGTG TGTGTGTG - TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:148998553_148998560delTGTGTGTG c.842_849delTGTGTGTG c.(841-849)ctgtgtgtgfs p.LCV281fs COAD 5 148999995 148999996 + Frame_Shift_Del DEL AG AG - TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr5:148999995_148999996delAG c.973_974delAG c.(973-975)agafs p.R325fs COAD 5 149001380 149001380 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:149001380C>T c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C COAD 5 149001489 149001489 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:149001489C>T c.1199C>T c.(1198-1200)tCg>tTg p.S400L COAD 5 149003590 149003590 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:149003590G>A c.1351G>A c.(1351-1353)Gtc>Atc p.V451I COAD 5 149006714 149006714 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:149006714A>G c.1540A>G c.(1540-1542)Aca>Gca p.T514A COAD 5 149008392 149008392 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:149008392G>A c.1681G>A c.(1681-1683)Gct>Act p.A561T COADREAD 5 148996287 148996287 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:148996287G>A c.616G>A c.(616-618)Gtg>Atg p.V206M COADREAD 5 148998553 148998560 + Frame_Shift_Del DEL TGTGTGTG TGTGTGTG - TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:148998553_148998560delTGTGTGTG c.842_849delTGTGTGTG c.(841-849)ctgtgtgtgfs p.LCV281fs COADREAD 5 148999995 148999996 + Frame_Shift_Del DEL AG AG - TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr5:148999995_148999996delAG c.973_974delAG c.(973-975)agafs p.R325fs COADREAD 5 149001380 149001380 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:149001380C>T c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C COADREAD 5 149001489 149001489 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:149001489C>T c.1199C>T c.(1198-1200)tCg>tTg p.S400L COADREAD 5 149003590 149003590 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:149003590G>A c.1351G>A c.(1351-1353)Gtc>Atc p.V451I COADREAD 5 149006714 149006714 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:149006714A>G c.1540A>G c.(1540-1542)Aca>Gca p.T514A COADREAD 5 149008392 149008392 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:149008392G>A c.1681G>A c.(1681-1683)Gct>Act p.A561T ESCA 5 148980676 148980676 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr5:148980676G>A c.192G>A c.(190-192)ccG>ccA p.P64P ESCA 5 148980732 148980732 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr5:148980732G>T c.248G>T c.(247-249)aGc>aTc p.S83I GBM 5 148997790 148997790 + Missense_Mutation SNP G G A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 g.chr5:148997790G>A c.710G>A c.(709-711)cGc>cAc p.R237H GBMLGG 5 148989208 148989208 + Silent SNP G G A TCGA-TM-A84M-01A-11D-A36O-08 TCGA-TM-A84M-10A-01D-A367-08 g.chr5:148989208G>A c.408G>A c.(406-408)cgG>cgA p.R136R GBMLGG 5 148996239 148996239 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:148996239G>C c.568G>C c.(568-570)Gcc>Ccc p.A190P GBMLGG 5 148997783 148997783 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:148997783C>A c.703C>A c.(703-705)Ctg>Atg p.L235M GBMLGG 5 148997790 148997790 + Missense_Mutation SNP G G A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 g.chr5:148997790G>A c.710G>A c.(709-711)cGc>cAc p.R237H GBMLGG 5 149011551 149011551 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:149011551G>T c.1825G>T c.(1825-1827)Gcc>Tcc p.A609S HNSC 5 148977395 148977395 + Silent SNP G G A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr5:148977395G>A c.63G>A c.(61-63)agG>agA p.R21R HNSC 5 149006649 149006649 + Missense_Mutation SNP C C T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr5:149006649C>T c.1475C>T c.(1474-1476)cCa>cTa p.P492L KIPAN 5 149006771 149006772 + In_Frame_Ins INS - - TGGCCA TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr5:149006771_149006772insTGGCCA c.1597_1598insTGGCCA c.(1597-1599)gtg>gTGGCCAtg p.533_534insAM KIPAN 5 149006787 149006787 + Missense_Mutation SNP A A G TCGA-A4-7732-01A-11D-2136-08 TCGA-A4-7732-10A-01D-2136-08 g.chr5:149006787A>G c.1613A>G c.(1612-1614)aAc>aGc p.N538S KIRP 5 149006771 149006772 + In_Frame_Ins INS - - TGGCCA TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr5:149006771_149006772insTGGCCA c.1597_1598insTGGCCA c.(1597-1599)gtg>gTGGCCAtg p.533_534insAM KIRP 5 149006787 149006787 + Missense_Mutation SNP A A G TCGA-A4-7732-01A-11D-2136-08 TCGA-A4-7732-10A-01D-2136-08 g.chr5:149006787A>G c.1613A>G c.(1612-1614)aAc>aGc p.N538S LGG 5 148989208 148989208 + Silent SNP G G A TCGA-TM-A84M-01A-11D-A36O-08 TCGA-TM-A84M-10A-01D-A367-08 g.chr5:148989208G>A c.408G>A c.(406-408)cgG>cgA p.R136R LGG 5 148996239 148996239 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:148996239G>C c.568G>C c.(568-570)Gcc>Ccc p.A190P LGG 5 148997783 148997783 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:148997783C>A c.703C>A c.(703-705)Ctg>Atg p.L235M LGG 5 149011551 149011551 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:149011551G>T c.1825G>T c.(1825-1827)Gcc>Tcc p.A609S LIHC 5 148980735 148980735 + Missense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr5:148980735G>T c.251G>T c.(250-252)aGa>aTa p.R84I LIHC 5 148980772 148980772 + Silent SNP A A G TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr5:148980772A>G c.288A>G c.(286-288)gaA>gaG p.E96E LIHC 5 148996303 148996303 + Missense_Mutation SNP A A G TCGA-MI-A75I-01A-11D-A32G-10 TCGA-MI-A75I-10A-01D-A32G-10 g.chr5:148996303A>G c.632A>G c.(631-633)aAt>aGt p.N211S LIHC 5 149003635 149003635 + Missense_Mutation SNP C C T TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr5:149003635C>T c.1396C>T c.(1396-1398)Cgg>Tgg p.R466W LIHC 5 149006643 149006643 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr5:149006643T>C c.1469T>C c.(1468-1470)cTc>cCc p.L490P LUAD 5 148977366 148977366 + Missense_Mutation SNP A A T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr5:148977366A>T c.34A>T c.(34-36)Agg>Tgg p.R12W LUAD 5 148989191 148989191 + Silent SNP C C T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr5:148989191C>T c.391C>T c.(391-393)Ctg>Ttg p.L131L LUAD 5 148989214 148989214 + Missense_Mutation SNP G G T TCGA-05-4244-01A-01D-1105-08 TCGA-05-4244-10A-01D-1105-08 g.chr5:148989214G>T c.414G>T c.(412-414)gaG>gaT p.E138D LUAD 5 148989227 148989227 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr5:148989227C>A c.427C>A c.(427-429)Cgg>Agg p.R143R LUAD 5 148989257 148989257 + Splice_Site SNP G G A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr5:148989257G>A c.457G>A c.(457-459)Gtg>Atg p.V153M LUAD 5 148996182 148996182 + Missense_Mutation SNP A A T TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr5:148996182A>T c.511A>T c.(511-513)Agg>Tgg p.R171W LUAD 5 148997777 148997777 + Nonsense_Mutation SNP G G T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr5:148997777G>T c.697G>T c.(697-699)Gag>Tag p.E233* LUAD 5 148997825 148997825 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr5:148997825C>G c.745C>G c.(745-747)Cgg>Ggg p.R249G LUAD 5 148999941 148999941 + Nonsense_Mutation SNP G G T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr5:148999941G>T c.919G>T c.(919-921)Gaa>Taa p.E307* LUAD 5 149001340 149001340 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr5:149001340G>T c.1050G>T c.(1048-1050)ctG>ctT p.L350L LUAD 5 149001437 149001437 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr5:149001437A>T c.1147A>T c.(1147-1149)Agt>Tgt p.S383C LUAD 5 149008426 149008426 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr5:149008426G>A c.1715G>A c.(1714-1716)aGt>aAt p.S572N LUAD 5 149008500 149008500 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr5:149008500C>T c.1789C>T c.(1789-1791)Cta>Tta p.L597L LUSC 5 149001624 149001624 + Splice_Site SNP A A C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr5:149001624A>C c.1334A>C c.(1333-1335)cAg>cCg p.Q445P OV 5 149011739 149011739 + Nonsense_Mutation SNP G G A TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 g.chr5:149011739G>A c.2013G>A c.(2011-2013)tgG>tgA p.W671* PAAD 5 148996246 148996246 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:148996246C>T c.575C>T c.(574-576)gCc>gTc p.A192V PAAD 5 148998539 148998539 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:148998539C>T c.828C>T c.(826-828)ttC>ttT p.F276F PAAD 5 148999941 148999941 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:148999941G>A c.919G>A c.(919-921)Gaa>Aaa p.E307K PAAD 5 149001460 149001460 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 g.chr5:149001460C>T c.1170C>T c.(1168-1170)gcC>gcT p.A390A PAAD 5 149006811 149006811 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:149006811G>A c.1637G>A c.(1636-1638)gGc>gAc p.G546D PAAD 5 149006812 149006812 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:149006812C>A c.1638C>A c.(1636-1638)ggC>ggA p.G546G PAAD 5 149011717 149011717 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr5:149011717G>A c.1991G>A c.(1990-1992)cGg>cAg p.R664Q PRAD 5 149003654 149003654 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:149003654G>A c.1415G>A c.(1414-1416)cGc>cAc p.R472H PRAD 5 149011707 149011707 + Missense_Mutation SNP G G C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 g.chr5:149011707G>C c.1981G>C c.(1981-1983)Gcc>Ccc p.A661P SARC 5 149001584 149001584 + Missense_Mutation SNP G G T TCGA-MJ-A850-01A-11D-A351-09 TCGA-MJ-A850-10A-01D-A351-09 g.chr5:149001584G>T c.1294G>T c.(1294-1296)Gca>Tca p.A432S SKCM 5 148989212 148989212 + Missense_Mutation SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr5:148989212G>A c.412G>A c.(412-414)Gag>Aag p.E138K SKCM 5 148996174 148996174 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr5:148996174C>T c.503C>T c.(502-504)cCt>cTt p.P168L SKCM 5 149001409 149001409 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:149001409G>A c.1119G>A c.(1117-1119)cgG>cgA p.R373R SKCM 5 149001489 149001489 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr5:149001489C>T c.1199C>T c.(1198-1200)tCg>tTg p.S400L SKCM 5 149001562 149001562 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr5:149001562C>T c.1272C>T c.(1270-1272)ttC>ttT p.F424F SKCM 5 149003603 149003603 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr5:149003603C>T c.1364C>T c.(1363-1365)gCc>gTc p.A455V SKCM 5 149003640 149003640 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr5:149003640G>A c.1401G>A c.(1399-1401)acG>acA p.T467T SKCM 5 149008485 149008485 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr5:149008485G>A c.1774G>A c.(1774-1776)Gag>Aag p.E592K SKCM 5 149008485 149008485 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr5:149008485G>A c.1774G>A c.(1774-1776)Gag>Aag p.E592K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 148929685 148929685 single base substitution G T upstream_gene_variant BLCA-US 5 148930407 148930407 single base substitution C T upstream_gene_variant BLCA-US 5 148999931 148999931 single base substitution C T synonymous_variant F303F 909C>T BLCA-US 5 149006694 149006694 single base substitution C G exon_variant BLCA-US 5 149006694 149006694 single base substitution C G missense_variant P507R 1520C>G BLCA-US 5 149011634 149011634 single base substitution C A downstream_gene_variant BLCA-US 5 149011634 149011634 single base substitution C A missense_variant D636E 1908C>A BOCA-UK 5 148977379 148977379 single base substitution C T missense_variant P16L 47C>T BRCA-EU 5 148927428 148927428 insertion of <=200bp - G upstream_gene_variant BRCA-EU 5 148928113 148928113 single base substitution G C upstream_gene_variant BRCA-EU 5 148929069 148929069 single base substitution C G upstream_gene_variant BRCA-EU 5 148929402 148929402 single base substitution G C upstream_gene_variant BRCA-EU 5 148929638 148929638 single base substitution C A upstream_gene_variant BRCA-EU 5 148930531 148930531 single base substitution G C upstream_gene_variant BRCA-EU 5 148930600 148930600 single base substitution C T upstream_gene_variant BRCA-EU 5 148930975 148930975 single base substitution G A upstream_gene_variant BRCA-EU 5 148931349 148931349 single base substitution G T upstream_gene_variant BRCA-EU 5 148931674 148931676 deletion of <=200bp AGA - 5_prime_UTR_variant BRCA-EU 5 148932755 148932755 single base substitution A T intron_variant BRCA-EU 5 148933730 148933730 single base substitution C G intron_variant BRCA-EU 5 148934306 148934306 single base substitution C G intron_variant BRCA-EU 5 148936445 148936445 single base substitution G A intron_variant BRCA-EU 5 148939665 148939665 deletion of <=200bp T - intron_variant BRCA-EU 5 148939904 148939904 single base substitution C T intron_variant BRCA-EU 5 148943005 148943005 single base substitution G T intron_variant BRCA-EU 5 148943856 148943856 single base substitution C T intron_variant BRCA-EU 5 148946938 148946938 single base substitution G T intron_variant BRCA-EU 5 148949222 148949222 single base substitution C T intron_variant BRCA-EU 5 148949324 148949324 single base substitution C T intron_variant BRCA-EU 5 148949378 148949378 single base substitution T G intron_variant BRCA-EU 5 148949683 148949683 single base substitution C T intron_variant BRCA-EU 5 148951508 148951508 single base substitution T C intron_variant BRCA-EU 5 148952378 148952378 single base substitution T A intron_variant BRCA-EU 5 148954063 148954075 deletion of <=200bp GTTGTGTTCACCA - intron_variant BRCA-EU 5 148954808 148954808 single base substitution T C intron_variant BRCA-EU 5 148957090 148957090 deletion of <=200bp A - intron_variant BRCA-EU 5 148957090 148957090 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 148957332 148957332 single base substitution C T intron_variant BRCA-EU 5 148957332 148957332 single base substitution C T upstream_gene_variant BRCA-EU 5 148959072 148959072 single base substitution C G intron_variant BRCA-EU 5 148959072 148959072 single base substitution C G upstream_gene_variant BRCA-EU 5 148959357 148959357 single base substitution C T intron_variant BRCA-EU 5 148959357 148959357 single base substitution C T upstream_gene_variant BRCA-EU 5 148960250 148960250 single base substitution T G intron_variant BRCA-EU 5 148960250 148960250 single base substitution T G upstream_gene_variant BRCA-EU 5 148960883 148960883 single base substitution G A intron_variant BRCA-EU 5 148960883 148960883 single base substitution G A upstream_gene_variant BRCA-EU 5 148960918 148960918 single base substitution C G intron_variant BRCA-EU 5 148960918 148960918 single base substitution C G upstream_gene_variant BRCA-EU 5 148960919 148960919 single base substitution G A intron_variant BRCA-EU 5 148960919 148960919 single base substitution G A upstream_gene_variant BRCA-EU 5 148961224 148961224 single base substitution G C intron_variant BRCA-EU 5 148962302 148962302 single base substitution C G intron_variant BRCA-EU 5 148962691 148962691 single base substitution G T intron_variant BRCA-EU 5 148963210 148963210 single base substitution T G intron_variant BRCA-EU 5 148963760 148963760 deletion of <=200bp A - intron_variant BRCA-EU 5 148964541 148964541 single base substitution C T intron_variant BRCA-EU 5 148964695 148964695 single base substitution G A intron_variant BRCA-EU 5 148964789 148964789 single base substitution C G intron_variant BRCA-EU 5 148965407 148965407 single base substitution C G intron_variant BRCA-EU 5 148965502 148965502 single base substitution T G intron_variant BRCA-EU 5 148965875 148965875 single base substitution T A intron_variant BRCA-EU 5 148966738 148966739 deletion of <=200bp TC - intron_variant BRCA-EU 5 148967024 148967024 single base substitution G A intron_variant BRCA-EU 5 148968268 148968268 deletion of <=200bp C - intron_variant BRCA-EU 5 148968509 148968509 single base substitution T G intron_variant BRCA-EU 5 148968925 148968925 single base substitution C T intron_variant BRCA-EU 5 148968989 148968989 single base substitution C G intron_variant BRCA-EU 5 148971072 148971072 single base substitution G C intron_variant BRCA-EU 5 148971189 148971189 single base substitution C T intron_variant BRCA-EU 5 148971263 148971263 single base substitution C T intron_variant BRCA-EU 5 148975019 148975019 single base substitution C A intron_variant BRCA-EU 5 148975747 148975747 single base substitution C A intron_variant BRCA-EU 5 148975902 148975902 single base substitution C G intron_variant BRCA-EU 5 148977588 148977588 single base substitution T C intron_variant BRCA-EU 5 148979290 148979290 single base substitution G T intron_variant BRCA-EU 5 148980451 148980451 single base substitution C G intron_variant BRCA-EU 5 148982447 148982447 single base substitution T G downstream_gene_variant BRCA-EU 5 148982447 148982447 single base substitution T G intron_variant BRCA-EU 5 148982692 148982692 single base substitution C T downstream_gene_variant BRCA-EU 5 148982692 148982692 single base substitution C T intron_variant BRCA-EU 5 148982893 148982893 single base substitution A G downstream_gene_variant BRCA-EU 5 148982893 148982893 single base substitution A G intron_variant BRCA-EU 5 148983398 148983398 single base substitution C T downstream_gene_variant BRCA-EU 5 148983398 148983398 single base substitution C T intron_variant BRCA-EU 5 148983467 148983467 single base substitution C G downstream_gene_variant BRCA-EU 5 148983467 148983467 single base substitution C G intron_variant BRCA-EU 5 148983536 148983536 single base substitution C G downstream_gene_variant BRCA-EU 5 148983536 148983536 single base substitution C G intron_variant BRCA-EU 5 148983663 148983663 single base substitution C G downstream_gene_variant BRCA-EU 5 148983663 148983663 single base substitution C G intron_variant BRCA-EU 5 148984525 148984525 single base substitution C G downstream_gene_variant BRCA-EU 5 148984525 148984525 single base substitution C G intron_variant BRCA-EU 5 148985035 148985035 single base substitution G A downstream_gene_variant BRCA-EU 5 148985035 148985035 single base substitution G A intron_variant BRCA-EU 5 148985606 148985606 single base substitution C G downstream_gene_variant BRCA-EU 5 148985606 148985606 single base substitution C G intron_variant BRCA-EU 5 148986244 148986244 deletion of <=200bp G - intron_variant BRCA-EU 5 148986247 148986247 single base substitution G A intron_variant BRCA-EU 5 148986991 148986991 single base substitution G A intron_variant BRCA-EU 5 148987018 148987018 deletion of <=200bp A - intron_variant BRCA-EU 5 148987075 148987075 single base substitution T C intron_variant BRCA-EU 5 148987083 148987083 single base substitution C T intron_variant BRCA-EU 5 148987470 148987470 single base substitution C T intron_variant BRCA-EU 5 148987940 148987940 single base substitution T A intron_variant BRCA-EU 5 148988241 148988241 single base substitution T A intron_variant BRCA-EU 5 148988964 148988964 single base substitution G C intron_variant BRCA-EU 5 148988967 148988967 single base substitution G A intron_variant BRCA-EU 5 148991101 148991101 single base substitution G A intron_variant BRCA-EU 5 148993013 148993013 single base substitution G A intron_variant BRCA-EU 5 148994349 148994349 single base substitution T A intron_variant BRCA-EU 5 148999425 148999425 single base substitution G C intron_variant BRCA-EU 5 148999509 148999509 single base substitution G A intron_variant BRCA-EU 5 149000329 149000329 single base substitution G A intron_variant BRCA-EU 5 149000405 149000405 single base substitution C A intron_variant BRCA-EU 5 149002154 149002154 single base substitution C T intron_variant BRCA-EU 5 149002154 149002154 single base substitution C T upstream_gene_variant BRCA-EU 5 149002156 149002156 single base substitution G T intron_variant BRCA-EU 5 149002156 149002156 single base substitution G T upstream_gene_variant BRCA-EU 5 149003065 149003065 single base substitution C A intron_variant BRCA-EU 5 149003065 149003065 single base substitution C A upstream_gene_variant BRCA-EU 5 149003590 149003590 single base substitution G A missense_variant V451I 1351G>A BRCA-EU 5 149003590 149003590 single base substitution G A upstream_gene_variant BRCA-EU 5 149004046 149004046 single base substitution G C intron_variant BRCA-EU 5 149004046 149004046 single base substitution G C upstream_gene_variant BRCA-EU 5 149005637 149005637 single base substitution G A intron_variant BRCA-EU 5 149005637 149005637 single base substitution G A upstream_gene_variant BRCA-EU 5 149005752 149005752 single base substitution C T intron_variant BRCA-EU 5 149005752 149005752 single base substitution C T upstream_gene_variant BRCA-EU 5 149007007 149007007 single base substitution G A intron_variant BRCA-EU 5 149009019 149009019 single base substitution G T intron_variant BRCA-EU 5 149010932 149010932 single base substitution C T intron_variant BRCA-EU 5 149013448 149013448 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 149013448 149013448 single base substitution A G downstream_gene_variant BRCA-EU 5 149013729 149013729 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 149013729 149013729 single base substitution C G downstream_gene_variant BRCA-EU 5 149016357 149016357 deletion of <=200bp T - downstream_gene_variant BRCA-FR 5 148928113 148928113 single base substitution G C upstream_gene_variant BRCA-FR 5 148929402 148929402 single base substitution G C upstream_gene_variant BRCA-FR 5 148936445 148936445 single base substitution G A intron_variant BRCA-FR 5 148943005 148943005 single base substitution G T intron_variant BRCA-FR 5 148948500 148948500 single base substitution G C intron_variant BRCA-FR 5 148962302 148962302 single base substitution C G intron_variant BRCA-FR 5 148971072 148971072 single base substitution G C intron_variant BRCA-FR 5 149003065 149003065 single base substitution C A intron_variant BRCA-FR 5 149003065 149003065 single base substitution C A upstream_gene_variant BRCA-FR 5 149009019 149009019 single base substitution G T intron_variant BRCA-FR 5 149010004 149010004 single base substitution C G intron_variant BRCA-UK 5 148960250 148960250 single base substitution T G intron_variant BRCA-UK 5 148960250 148960250 single base substitution T G upstream_gene_variant BRCA-UK 5 148967900 148967900 single base substitution G A intron_variant BRCA-UK 5 148975019 148975019 single base substitution C A intron_variant BRCA-UK 5 149002156 149002156 single base substitution G T intron_variant BRCA-UK 5 149002156 149002156 single base substitution G T upstream_gene_variant BRCA-US 5 148929690 148929690 single base substitution C T upstream_gene_variant BRCA-US 5 148930500 148930500 single base substitution C A upstream_gene_variant BRCA-US 5 149001472 149001473 deletion of <=200bp AT - frameshift_variant TY394 BRCA-US 5 149001472 149001473 deletion of <=200bp AT - upstream_gene_variant BRCA-US 5 149008411 149008411 single base substitution A G exon_variant BRCA-US 5 149008411 149008411 single base substitution A G missense_variant Y567C 1700A>G BTCA-JP 5 149001461 149001461 single base substitution G C missense_variant A391P 1171G>C BTCA-JP 5 149001461 149001461 single base substitution G C upstream_gene_variant BTCA-JP 5 149001608 149001608 single base substitution G A missense_variant E440K 1318G>A BTCA-JP 5 149001608 149001608 single base substitution G A upstream_gene_variant BTCA-JP 5 149011490 149011490 single base substitution A C intron_variant CESC-US 5 148977374 148977374 single base substitution G A synonymous_variant G14G 42G>A CESC-US 5 149008510 149008510 single base substitution C G exon_variant CESC-US 5 149008510 149008510 single base substitution C G missense_variant S600C 1799C>G CLLE-ES 5 148929021 148929021 single base substitution A T upstream_gene_variant CLLE-ES 5 148931604 148931604 single base substitution A G 5_prime_UTR_variant CLLE-ES 5 148931682 148931682 single base substitution A T 5_prime_UTR_variant CLLE-ES 5 148931733 148931733 single base substitution A G intron_variant CLLE-ES 5 148931783 148931783 single base substitution A G intron_variant CLLE-ES 5 148968362 148968362 single base substitution A G intron_variant CLLE-ES 5 148975565 148975565 single base substitution T G intron_variant CLLE-ES 5 148981828 148981828 single base substitution C T downstream_gene_variant CLLE-ES 5 148981828 148981828 single base substitution C T intron_variant CLLE-ES 5 148990208 148990208 single base substitution T C intron_variant CLLE-ES 5 148991939 148991939 single base substitution C G intron_variant COAD-US 5 148929652 148929652 single base substitution G A upstream_gene_variant COAD-US 5 148930466 148930466 single base substitution C A upstream_gene_variant COAD-US 5 148989122 148989122 single base substitution C T synonymous_variant L108L 322C>T COAD-US 5 148998553 148998560 deletion of <=200bp TGTGTGTG - frameshift_variant LCV281 COAD-US 5 148999995 148999996 deletion of <=200bp AG - frameshift_variant R325 COAD-US 5 149001489 149001489 single base substitution C T missense_variant S400L 1199C>T COAD-US 5 149001489 149001489 single base substitution C T upstream_gene_variant COAD-US 5 149003627 149003627 single base substitution C T missense_variant A463V 1388C>T COAD-US 5 149003627 149003627 single base substitution C T upstream_gene_variant COAD-US 5 149006640 149006640 single base substitution C T exon_variant COAD-US 5 149006640 149006640 single base substitution C T missense_variant P489L 1466C>T COAD-US 5 149006726 149006726 single base substitution A C exon_variant COAD-US 5 149006726 149006726 single base substitution A C missense_variant S518R 1552A>C COAD-US 5 149008467 149008467 single base substitution C A exon_variant COAD-US 5 149008467 149008467 single base substitution C A missense_variant P586T 1756C>A COCA-CN 5 148929040 148929040 single base substitution T G upstream_gene_variant COCA-CN 5 148935796 148935796 single base substitution G A intron_variant COCA-CN 5 148938264 148938264 single base substitution G A intron_variant COCA-CN 5 148943574 148943574 single base substitution G A intron_variant COCA-CN 5 148950108 148950108 single base substitution A C intron_variant COCA-CN 5 148962237 148962237 single base substitution C A intron_variant COCA-CN 5 148977582 148977582 single base substitution G T intron_variant COCA-CN 5 148977896 148977896 single base substitution C T intron_variant COCA-CN 5 148977902 148977902 single base substitution C T intron_variant COCA-CN 5 148977908 148977908 single base substitution C T intron_variant COCA-CN 5 148977932 148977932 single base substitution T C intron_variant COCA-CN 5 148977935 148977935 single base substitution C T intron_variant COCA-CN 5 148978324 148978324 single base substitution T G intron_variant COCA-CN 5 149001380 149001380 single base substitution C A missense_variant R364S 1090C>A COCA-CN 5 149003851 149003851 single base substitution A C intron_variant COCA-CN 5 149003851 149003851 single base substitution A C upstream_gene_variant COCA-CN 5 149005851 149005851 single base substitution G A intron_variant COCA-CN 5 149005851 149005851 single base substitution G A upstream_gene_variant COCA-CN 5 149006892 149006892 single base substitution C T intron_variant COCA-CN 5 149008467 149008467 single base substitution C A exon_variant COCA-CN 5 149008467 149008467 single base substitution C A missense_variant P586T 1756C>A COCA-CN 5 149008521 149008521 single base substitution A G exon_variant COCA-CN 5 149008521 149008521 single base substitution A G missense_variant M604V 1810A>G COCA-CN 5 149010711 149010711 single base substitution T C intron_variant COCA-CN 5 149011720 149011720 single base substitution G A downstream_gene_variant COCA-CN 5 149011720 149011720 single base substitution G A missense_variant S665N 1994G>A COCA-CN 5 149015269 149015269 single base substitution C A downstream_gene_variant COCA-CN 5 149016269 149016269 single base substitution G C downstream_gene_variant EOPC-DE 5 148994671 148994671 single base substitution G C intron_variant EOPC-DE 5 149003459 149003459 single base substitution A G intron_variant EOPC-DE 5 149003459 149003459 single base substitution A G upstream_gene_variant ESAD-UK 5 148927146 148927146 single base substitution C T upstream_gene_variant ESAD-UK 5 148927225 148927225 single base substitution C T upstream_gene_variant ESAD-UK 5 148927272 148927272 single base substitution C T upstream_gene_variant ESAD-UK 5 148928286 148928286 deletion of <=200bp C - upstream_gene_variant ESAD-UK 5 148928293 148928302 deletion of <=200bp TCCCAGCTAC - upstream_gene_variant ESAD-UK 5 148931390 148931390 single base substitution T C upstream_gene_variant ESAD-UK 5 148933686 148933686 single base substitution G C intron_variant ESAD-UK 5 148935540 148935540 single base substitution A C intron_variant ESAD-UK 5 148939252 148939252 single base substitution G A intron_variant ESAD-UK 5 148941770 148941770 deletion of <=200bp A - intron_variant ESAD-UK 5 148946251 148946251 single base substitution C T intron_variant ESAD-UK 5 148948864 148948864 insertion of <=200bp - TTTA intron_variant ESAD-UK 5 148952490 148952490 single base substitution T A intron_variant ESAD-UK 5 148955443 148955443 insertion of <=200bp - C intron_variant ESAD-UK 5 148956513 148956516 deletion of <=200bp TCTG - intron_variant ESAD-UK 5 148956513 148956516 deletion of <=200bp TCTG - upstream_gene_variant ESAD-UK 5 148959265 148959265 single base substitution C A intron_variant ESAD-UK 5 148959265 148959265 single base substitution C A upstream_gene_variant ESAD-UK 5 148959678 148959678 single base substitution C T intron_variant ESAD-UK 5 148959678 148959678 single base substitution C T upstream_gene_variant ESAD-UK 5 148960761 148960761 single base substitution C T intron_variant ESAD-UK 5 148960761 148960761 single base substitution C T upstream_gene_variant ESAD-UK 5 148961346 148961346 single base substitution T C intron_variant ESAD-UK 5 148970182 148970182 single base substitution T C intron_variant ESAD-UK 5 148970327 148970327 insertion of <=200bp - T intron_variant ESAD-UK 5 148974742 148974742 single base substitution T C intron_variant ESAD-UK 5 148978317 148978317 insertion of <=200bp - ATATAG intron_variant ESAD-UK 5 148980453 148980453 single base substitution T C intron_variant ESAD-UK 5 148982356 148982356 single base substitution A G downstream_gene_variant ESAD-UK 5 148982356 148982356 single base substitution A G intron_variant ESAD-UK 5 148985228 148985228 single base substitution C A downstream_gene_variant ESAD-UK 5 148985228 148985228 single base substitution C A intron_variant ESAD-UK 5 148985248 148985248 single base substitution C G downstream_gene_variant ESAD-UK 5 148985248 148985248 single base substitution C G intron_variant ESAD-UK 5 148987940 148987940 single base substitution T A intron_variant ESAD-UK 5 148988757 148988757 insertion of <=200bp - A intron_variant ESAD-UK 5 148993672 148993672 single base substitution T G intron_variant ESAD-UK 5 148995103 148995103 deletion of <=200bp T - intron_variant ESAD-UK 5 148996117 148996117 single base substitution C T intron_variant ESAD-UK 5 148997438 148997438 single base substitution C A intron_variant ESAD-UK 5 149006075 149006075 single base substitution C T intron_variant ESAD-UK 5 149006075 149006075 single base substitution C T upstream_gene_variant ESAD-UK 5 149006077 149006077 single base substitution C T intron_variant ESAD-UK 5 149006077 149006077 single base substitution C T upstream_gene_variant ESAD-UK 5 149007785 149007785 single base substitution T A intron_variant ESAD-UK 5 149012356 149012356 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 149012356 149012356 single base substitution C T downstream_gene_variant ESAD-UK 5 149016054 149016054 single base substitution T A downstream_gene_variant ESAD-UK 5 149016106 149016106 single base substitution A C downstream_gene_variant ESAD-UK 5 149016533 149016533 single base substitution A C downstream_gene_variant ESAD-UK 5 149016653 149016653 single base substitution G T downstream_gene_variant ESAD-UK 5 149017180 149017180 single base substitution T C downstream_gene_variant ESAD-UK 5 149017204 149017204 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 149017206 149017211 deletion of <=200bp CTTGCA - downstream_gene_variant ESAD-UK 5 149018640 149018640 single base substitution C T downstream_gene_variant ESAD-UK 5 149018814 149018814 single base substitution G A downstream_gene_variant ESAD-UK 5 149018948 149018948 single base substitution G A downstream_gene_variant GBM-US 5 148929730 148929730 single base substitution C T upstream_gene_variant GBM-US 5 148997790 148997790 single base substitution G A missense_variant R237H 710G>A KIRC-US 5 149001322 149001322 insertion of <=200bp - C frameshift_variant W344C? KIRP-US 5 149006787 149006787 single base substitution A G exon_variant KIRP-US 5 149006787 149006787 single base substitution A G missense_variant N538S 1613A>G LAML-KR 5 148948993 148948993 single base substitution C T intron_variant LAML-KR 5 148977945 148977945 single base substitution T C intron_variant LAML-KR 5 148995998 148995998 single base substitution A C intron_variant LAML-KR 5 148996022 148996022 single base substitution G T intron_variant LAML-KR 5 148998724 148998724 single base substitution G T intron_variant LAML-KR 5 149008467 149008467 single base substitution C A exon_variant LAML-KR 5 149008467 149008467 single base substitution C A missense_variant P586T 1756C>A LICA-FR 5 148960935 148960935 single base substitution G A intron_variant LICA-FR 5 148960935 148960935 single base substitution G A upstream_gene_variant LICA-FR 5 148970571 148970571 single base substitution A G intron_variant LICA-FR 5 148976780 148976780 single base substitution C T intron_variant LICA-FR 5 148978998 148978998 insertion of <=200bp - TTATTTATTTATTTATTTATTTAT intron_variant LICA-FR 5 148987311 148987311 single base substitution G A intron_variant LICA-FR 5 148987318 148987318 single base substitution C T intron_variant LICA-FR 5 148989963 148989963 single base substitution A G intron_variant LICA-FR 5 148998850 148998850 single base substitution G A intron_variant LICA-FR 5 149017683 149017683 single base substitution C A downstream_gene_variant LIHC-US 5 148996303 148996303 single base substitution A G missense_variant N211S 632A>G LIHC-US 5 149003635 149003635 single base substitution C T missense_variant R466W 1396C>T LIHC-US 5 149003635 149003635 single base substitution C T upstream_gene_variant LINC-JP 5 148928431 148928431 single base substitution C T upstream_gene_variant LINC-JP 5 148929417 148929417 single base substitution G C upstream_gene_variant LINC-JP 5 148953514 148953514 single base substitution A G intron_variant LINC-JP 5 148953690 148953690 single base substitution T C intron_variant LINC-JP 5 148971287 148971287 single base substitution A G intron_variant LINC-JP 5 148987858 148987858 single base substitution T C intron_variant LINC-JP 5 148996221 148996221 single base substitution G C missense_variant E184Q 550G>C LINC-JP 5 148997875 148997875 single base substitution C T splice_region_variant LINC-JP 5 148999676 148999676 single base substitution T G intron_variant LINC-JP 5 149000400 149000400 single base substitution G A intron_variant LINC-JP 5 149001615 149001615 single base substitution G A missense_variant S442N 1325G>A LINC-JP 5 149001615 149001615 single base substitution G A upstream_gene_variant LINC-JP 5 149008915 149008915 single base substitution T C intron_variant LINC-JP 5 149013179 149013179 single base substitution A G 3_prime_UTR_variant LINC-JP 5 149013179 149013179 single base substitution A G downstream_gene_variant LIRI-JP 5 148927516 148927516 single base substitution C T upstream_gene_variant LIRI-JP 5 148927936 148927936 single base substitution C A upstream_gene_variant LIRI-JP 5 148928847 148928847 single base substitution T C upstream_gene_variant LIRI-JP 5 148929517 148929517 single base substitution T C upstream_gene_variant LIRI-JP 5 148929813 148929813 single base substitution A C upstream_gene_variant LIRI-JP 5 148931855 148931855 single base substitution A C intron_variant LIRI-JP 5 148932509 148932509 single base substitution G T intron_variant LIRI-JP 5 148933478 148933478 single base substitution C A intron_variant LIRI-JP 5 148937037 148937037 single base substitution G A intron_variant LIRI-JP 5 148937756 148937756 single base substitution T G intron_variant LIRI-JP 5 148940324 148940324 single base substitution C A intron_variant LIRI-JP 5 148941052 148941052 single base substitution G A intron_variant LIRI-JP 5 148945261 148945261 single base substitution G T intron_variant LIRI-JP 5 148946595 148946595 single base substitution G T intron_variant LIRI-JP 5 148947172 148947172 single base substitution T C intron_variant LIRI-JP 5 148947193 148947193 single base substitution G A intron_variant LIRI-JP 5 148951620 148951620 single base substitution A T intron_variant LIRI-JP 5 148951841 148951841 single base substitution C A intron_variant LIRI-JP 5 148953402 148953402 single base substitution C T intron_variant LIRI-JP 5 148953429 148953429 single base substitution C A intron_variant LIRI-JP 5 148961695 148961695 single base substitution A C intron_variant LIRI-JP 5 148961898 148961898 single base substitution A G intron_variant LIRI-JP 5 148965203 148965203 single base substitution C G intron_variant LIRI-JP 5 148966768 148966768 single base substitution A G intron_variant LIRI-JP 5 148967069 148967069 single base substitution G A intron_variant LIRI-JP 5 148973176 148973176 single base substitution G A intron_variant LIRI-JP 5 148974098 148974098 single base substitution G T intron_variant LIRI-JP 5 148976461 148976461 single base substitution G T intron_variant LIRI-JP 5 148980394 148980394 single base substitution G T intron_variant LIRI-JP 5 148981798 148981798 single base substitution T G downstream_gene_variant LIRI-JP 5 148981798 148981798 single base substitution T G intron_variant LIRI-JP 5 148982392 148982392 single base substitution C A downstream_gene_variant LIRI-JP 5 148982392 148982392 single base substitution C A intron_variant LIRI-JP 5 148984533 148984533 single base substitution T C downstream_gene_variant LIRI-JP 5 148984533 148984533 single base substitution T C intron_variant LIRI-JP 5 148984923 148984923 single base substitution A G downstream_gene_variant LIRI-JP 5 148984923 148984923 single base substitution A G intron_variant LIRI-JP 5 148985083 148985083 single base substitution G T downstream_gene_variant LIRI-JP 5 148985083 148985083 single base substitution G T intron_variant LIRI-JP 5 148990106 148990106 single base substitution G A intron_variant LIRI-JP 5 148995284 148995284 single base substitution C T intron_variant LIRI-JP 5 148999892 148999893 deletion of <=200bp TG - intron_variant LIRI-JP 5 149001757 149001757 single base substitution A G intron_variant LIRI-JP 5 149001757 149001757 single base substitution A G upstream_gene_variant LIRI-JP 5 149003096 149003096 single base substitution A G intron_variant LIRI-JP 5 149003096 149003096 single base substitution A G upstream_gene_variant LIRI-JP 5 149004072 149004072 single base substitution C T intron_variant LIRI-JP 5 149004072 149004072 single base substitution C T upstream_gene_variant LIRI-JP 5 149005638 149005638 single base substitution A G intron_variant LIRI-JP 5 149005638 149005638 single base substitution A G upstream_gene_variant LIRI-JP 5 149006544 149006544 single base substitution A T exon_variant LIRI-JP 5 149006544 149006544 single base substitution A T intron_variant LIRI-JP 5 149008141 149008141 single base substitution A T intron_variant LIRI-JP 5 149009258 149009258 single base substitution G C intron_variant LIRI-JP 5 149016361 149016361 single base substitution T G downstream_gene_variant LIRI-JP 5 149018213 149018213 single base substitution C A downstream_gene_variant LUSC-KR 5 148929837 148929837 single base substitution C A upstream_gene_variant LUSC-KR 5 148944471 148944471 single base substitution C A intron_variant LUSC-KR 5 148950628 148950628 single base substitution C A intron_variant LUSC-KR 5 148965336 148965336 single base substitution C T intron_variant LUSC-KR 5 148977613 148977613 single base substitution C T intron_variant LUSC-KR 5 148984390 148984390 single base substitution C T downstream_gene_variant LUSC-KR 5 148984390 148984390 single base substitution C T intron_variant LUSC-KR 5 148987430 148987430 single base substitution C T intron_variant LUSC-KR 5 148992928 148992928 single base substitution G T intron_variant LUSC-KR 5 149008818 149008818 single base substitution G T intron_variant LUSC-KR 5 149019197 149019197 single base substitution C G downstream_gene_variant LUSC-US 5 148930407 148930407 single base substitution C A upstream_gene_variant LUSC-US 5 149001624 149001624 single base substitution A C missense_variant Q445P 1334A>C LUSC-US 5 149001624 149001624 single base substitution A C upstream_gene_variant MALY-DE 5 148927252 148927252 single base substitution C A upstream_gene_variant MALY-DE 5 148930397 148930397 single base substitution A G upstream_gene_variant MALY-DE 5 148930845 148930845 single base substitution C T upstream_gene_variant MALY-DE 5 148932295 148932295 single base substitution G T intron_variant MALY-DE 5 148933408 148933408 single base substitution G A intron_variant MALY-DE 5 148936530 148936530 single base substitution A G intron_variant MALY-DE 5 148945393 148945414 deletion of <=200bp TTTTTTTTTTTTTTTTTTTTTT - intron_variant MALY-DE 5 148946133 148946133 single base substitution G A intron_variant MALY-DE 5 148955443 148955443 insertion of <=200bp - C intron_variant MALY-DE 5 148958261 148958261 single base substitution A T intron_variant MALY-DE 5 148958261 148958261 single base substitution A T upstream_gene_variant MALY-DE 5 148960812 148960812 single base substitution A C intron_variant MALY-DE 5 148960812 148960812 single base substitution A C upstream_gene_variant MALY-DE 5 148971451 148971451 single base substitution G T intron_variant MALY-DE 5 148977930 148977930 single base substitution T C intron_variant MALY-DE 5 148978835 148978835 single base substitution C T intron_variant MALY-DE 5 148989811 148989811 single base substitution C A intron_variant MALY-DE 5 148991794 148991794 single base substitution G A intron_variant MALY-DE 5 148996428 148996428 single base substitution G A intron_variant MALY-DE 5 148996786 148996786 single base substitution G A intron_variant MALY-DE 5 149000393 149000393 insertion of <=200bp - AAAAAAAAAA intron_variant MALY-DE 5 149004564 149004564 single base substitution C A intron_variant MALY-DE 5 149004564 149004564 single base substitution C A upstream_gene_variant MALY-DE 5 149005325 149005326 deletion of <=200bp CA - intron_variant MALY-DE 5 149005325 149005326 deletion of <=200bp CA - upstream_gene_variant MALY-DE 5 149007680 149007680 single base substitution G A intron_variant MALY-DE 5 149013258 149013258 single base substitution A G 3_prime_UTR_variant MALY-DE 5 149013258 149013258 single base substitution A G downstream_gene_variant MALY-DE 5 149016018 149016018 insertion of <=200bp - TTTA downstream_gene_variant MELA-AU 5 148926683 148926683 single base substitution T A upstream_gene_variant MELA-AU 5 148927912 148927912 single base substitution C T upstream_gene_variant MELA-AU 5 148928103 148928103 single base substitution C T upstream_gene_variant MELA-AU 5 148928543 148928543 single base substitution G A upstream_gene_variant MELA-AU 5 148928637 148928639 deletion of <=200bp TCC - upstream_gene_variant MELA-AU 5 148929863 148929863 single base substitution G A upstream_gene_variant MELA-AU 5 148929939 148929939 single base substitution C T upstream_gene_variant MELA-AU 5 148930071 148930071 single base substitution A G upstream_gene_variant MELA-AU 5 148930107 148930107 single base substitution G A upstream_gene_variant MELA-AU 5 148931129 148931129 single base substitution C T upstream_gene_variant MELA-AU 5 148931192 148931192 single base substitution C T upstream_gene_variant MELA-AU 5 148931306 148931306 single base substitution C T upstream_gene_variant MELA-AU 5 148932045 148932045 single base substitution C T intron_variant MELA-AU 5 148932795 148932795 single base substitution C T intron_variant MELA-AU 5 148934617 148934617 single base substitution C T intron_variant MELA-AU 5 148934976 148934976 single base substitution C T intron_variant MELA-AU 5 148935010 148935010 single base substitution G A intron_variant MELA-AU 5 148935368 148935368 single base substitution G A intron_variant MELA-AU 5 148935551 148935551 single base substitution C T intron_variant MELA-AU 5 148936049 148936049 single base substitution C G intron_variant MELA-AU 5 148936397 148936397 single base substitution C T intron_variant MELA-AU 5 148936544 148936544 single base substitution C T intron_variant MELA-AU 5 148936844 148936844 single base substitution C T intron_variant MELA-AU 5 148937058 148937058 single base substitution T A intron_variant MELA-AU 5 148937081 148937081 single base substitution T C intron_variant MELA-AU 5 148938042 148938042 single base substitution C T intron_variant MELA-AU 5 148938118 148938118 single base substitution C T intron_variant MELA-AU 5 148938681 148938681 single base substitution C T intron_variant MELA-AU 5 148938748 148938748 single base substitution G A intron_variant MELA-AU 5 148939206 148939206 single base substitution C T intron_variant MELA-AU 5 148939885 148939885 single base substitution C T intron_variant MELA-AU 5 148941594 148941594 single base substitution G A intron_variant MELA-AU 5 148941948 148941948 single base substitution C T intron_variant MELA-AU 5 148942495 148942495 single base substitution C T intron_variant MELA-AU 5 148942693 148942693 single base substitution C T intron_variant MELA-AU 5 148943098 148943098 single base substitution C T intron_variant MELA-AU 5 148943179 148943179 single base substitution G A intron_variant MELA-AU 5 148943300 148943300 single base substitution A C intron_variant MELA-AU 5 148944006 148944006 single base substitution C T intron_variant MELA-AU 5 148944609 148944609 single base substitution G A intron_variant MELA-AU 5 148945021 148945021 single base substitution C T intron_variant MELA-AU 5 148945029 148945029 single base substitution C T intron_variant MELA-AU 5 148945943 148945943 single base substitution C T intron_variant MELA-AU 5 148946689 148946689 single base substitution G T intron_variant MELA-AU 5 148947383 148947383 single base substitution G A intron_variant MELA-AU 5 148947415 148947415 single base substitution C T intron_variant MELA-AU 5 148947674 148947674 single base substitution C T intron_variant MELA-AU 5 148948312 148948312 single base substitution T C intron_variant MELA-AU 5 148948977 148948978 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 148949375 148949375 single base substitution G A intron_variant MELA-AU 5 148949376 148949376 single base substitution G A intron_variant MELA-AU 5 148949729 148949729 single base substitution C T intron_variant MELA-AU 5 148949832 148949832 single base substitution T G intron_variant MELA-AU 5 148950133 148950133 single base substitution C T intron_variant MELA-AU 5 148950266 148950266 single base substitution C T intron_variant MELA-AU 5 148950393 148950393 single base substitution C T intron_variant MELA-AU 5 148950725 148950725 single base substitution G A intron_variant MELA-AU 5 148950775 148950775 single base substitution G A intron_variant MELA-AU 5 148950846 148950846 single base substitution T C intron_variant MELA-AU 5 148951429 148951429 single base substitution C T intron_variant MELA-AU 5 148951656 148951656 single base substitution G A intron_variant MELA-AU 5 148952100 148952100 single base substitution C T intron_variant MELA-AU 5 148953217 148953217 single base substitution G A intron_variant MELA-AU 5 148953238 148953238 single base substitution C T intron_variant MELA-AU 5 148953402 148953402 single base substitution C T intron_variant MELA-AU 5 148953420 148953438 deletion of <=200bp ATAGATTAACCTTGTTCTT - intron_variant MELA-AU 5 148953456 148953456 single base substitution C G intron_variant MELA-AU 5 148953625 148953625 single base substitution G A intron_variant MELA-AU 5 148953904 148953904 single base substitution C T intron_variant MELA-AU 5 148954120 148954120 single base substitution C T intron_variant MELA-AU 5 148954482 148954482 single base substitution C T intron_variant MELA-AU 5 148954706 148954706 single base substitution G A intron_variant MELA-AU 5 148954858 148954858 single base substitution C T intron_variant MELA-AU 5 148955057 148955057 single base substitution T C intron_variant MELA-AU 5 148955507 148955507 single base substitution C T intron_variant MELA-AU 5 148955530 148955530 single base substitution C T intron_variant MELA-AU 5 148955557 148955557 single base substitution C T intron_variant MELA-AU 5 148955712 148955712 single base substitution G A intron_variant MELA-AU 5 148955975 148955975 single base substitution T G intron_variant MELA-AU 5 148956204 148956204 single base substitution C A intron_variant MELA-AU 5 148956204 148956204 single base substitution C A upstream_gene_variant MELA-AU 5 148956370 148956370 single base substitution T G intron_variant MELA-AU 5 148956370 148956370 single base substitution T G upstream_gene_variant MELA-AU 5 148956612 148956612 single base substitution G A intron_variant MELA-AU 5 148956612 148956612 single base substitution G A upstream_gene_variant MELA-AU 5 148956646 148956646 single base substitution C T intron_variant MELA-AU 5 148956646 148956646 single base substitution C T upstream_gene_variant MELA-AU 5 148957385 148957385 single base substitution G A intron_variant MELA-AU 5 148957385 148957385 single base substitution G A upstream_gene_variant MELA-AU 5 148957853 148957853 single base substitution G A intron_variant MELA-AU 5 148957853 148957853 single base substitution G A upstream_gene_variant MELA-AU 5 148958408 148958408 single base substitution C T intron_variant MELA-AU 5 148958408 148958408 single base substitution C T upstream_gene_variant MELA-AU 5 148958716 148958716 single base substitution C T intron_variant MELA-AU 5 148958716 148958716 single base substitution C T upstream_gene_variant MELA-AU 5 148959006 148959006 single base substitution G A intron_variant MELA-AU 5 148959006 148959006 single base substitution G A upstream_gene_variant MELA-AU 5 148959031 148959031 single base substitution A T intron_variant MELA-AU 5 148959031 148959031 single base substitution A T upstream_gene_variant MELA-AU 5 148959678 148959678 single base substitution C T intron_variant MELA-AU 5 148959678 148959678 single base substitution C T upstream_gene_variant MELA-AU 5 148959718 148959718 single base substitution G A intron_variant MELA-AU 5 148959718 148959718 single base substitution G A upstream_gene_variant MELA-AU 5 148959857 148959857 single base substitution C T intron_variant MELA-AU 5 148959857 148959857 single base substitution C T upstream_gene_variant MELA-AU 5 148959923 148959923 single base substitution A C intron_variant MELA-AU 5 148959923 148959923 single base substitution A C upstream_gene_variant MELA-AU 5 148959969 148959969 single base substitution C T intron_variant MELA-AU 5 148959969 148959969 single base substitution C T upstream_gene_variant MELA-AU 5 148960554 148960554 single base substitution A T intron_variant MELA-AU 5 148960554 148960554 single base substitution A T upstream_gene_variant MELA-AU 5 148961772 148961773 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 5 148962271 148962271 single base substitution T C intron_variant MELA-AU 5 148962875 148962875 single base substitution A G intron_variant MELA-AU 5 148963580 148963580 single base substitution C T intron_variant MELA-AU 5 148963826 148963826 single base substitution G A intron_variant MELA-AU 5 148965271 148965271 single base substitution A C intron_variant MELA-AU 5 148965949 148965949 single base substitution C G intron_variant MELA-AU 5 148966305 148966305 single base substitution C A intron_variant MELA-AU 5 148966818 148966818 single base substitution T A intron_variant MELA-AU 5 148966822 148966822 single base substitution A G intron_variant MELA-AU 5 148966919 148966919 single base substitution C T intron_variant MELA-AU 5 148967290 148967290 single base substitution C T intron_variant MELA-AU 5 148967646 148967646 single base substitution G A intron_variant MELA-AU 5 148967728 148967729 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 148967896 148967896 single base substitution C T intron_variant MELA-AU 5 148967951 148967951 single base substitution C T intron_variant MELA-AU 5 148968270 148968270 single base substitution C T intron_variant MELA-AU 5 148968635 148968635 single base substitution T C intron_variant MELA-AU 5 148968813 148968813 single base substitution G A intron_variant MELA-AU 5 148968872 148968872 single base substitution G A intron_variant MELA-AU 5 148969000 148969000 single base substitution C T intron_variant MELA-AU 5 148969153 148969153 single base substitution C T intron_variant MELA-AU 5 148969637 148969637 single base substitution C T intron_variant MELA-AU 5 148969955 148969955 single base substitution C T intron_variant MELA-AU 5 148970369 148970370 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 148970578 148970578 single base substitution G A intron_variant MELA-AU 5 148970894 148970894 single base substitution C T intron_variant MELA-AU 5 148970952 148970952 single base substitution T C intron_variant MELA-AU 5 148971204 148971204 single base substitution C T intron_variant MELA-AU 5 148971535 148971535 single base substitution C T intron_variant MELA-AU 5 148971697 148971697 single base substitution G A intron_variant MELA-AU 5 148972038 148972048 deletion of <=200bp TTCGTTCCTTT - intron_variant MELA-AU 5 148972418 148972418 single base substitution C T intron_variant MELA-AU 5 148972442 148972442 single base substitution C T intron_variant MELA-AU 5 148973088 148973088 single base substitution G A intron_variant MELA-AU 5 148973288 148973288 single base substitution C T intron_variant MELA-AU 5 148973731 148973731 single base substitution T G intron_variant MELA-AU 5 148974010 148974011 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 5 148974433 148974433 single base substitution T C intron_variant MELA-AU 5 148974454 148974455 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 148975326 148975326 single base substitution C T intron_variant MELA-AU 5 148975451 148975451 single base substitution C T intron_variant MELA-AU 5 148975566 148975566 single base substitution C T intron_variant MELA-AU 5 148975699 148975699 single base substitution G T intron_variant MELA-AU 5 148975834 148975834 single base substitution T C intron_variant MELA-AU 5 148976108 148976108 single base substitution T C intron_variant MELA-AU 5 148976791 148976791 single base substitution G A intron_variant MELA-AU 5 148977036 148977036 single base substitution G A intron_variant MELA-AU 5 148977041 148977041 single base substitution C T intron_variant MELA-AU 5 148977274 148977274 single base substitution C T intron_variant MELA-AU 5 148977664 148977664 single base substitution C T intron_variant MELA-AU 5 148977874 148977874 single base substitution T C intron_variant MELA-AU 5 148977949 148977949 single base substitution C T intron_variant MELA-AU 5 148978006 148978006 single base substitution C T intron_variant MELA-AU 5 148978039 148978039 single base substitution C T intron_variant MELA-AU 5 148978106 148978106 single base substitution C T intron_variant MELA-AU 5 148978328 148978328 single base substitution G T intron_variant MELA-AU 5 148979066 148979066 single base substitution C T intron_variant MELA-AU 5 148979625 148979625 single base substitution C T intron_variant MELA-AU 5 148980183 148980183 single base substitution C T intron_variant MELA-AU 5 148980189 148980189 single base substitution G A intron_variant MELA-AU 5 148980267 148980267 single base substitution G A intron_variant MELA-AU 5 148980336 148980337 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 148980392 148980392 single base substitution G A intron_variant MELA-AU 5 148980427 148980427 single base substitution C T intron_variant MELA-AU 5 148980663 148980663 single base substitution C T intron_variant MELA-AU 5 148980663 148980663 single base substitution C T splice_region_variant MELA-AU 5 148980739 148980739 single base substitution C T synonymous_variant F85F 255C>T MELA-AU 5 148980742 148980742 single base substitution C T synonymous_variant L86L 258C>T MELA-AU 5 148980924 148980924 single base substitution C T downstream_gene_variant MELA-AU 5 148980924 148980924 single base substitution C T intron_variant MELA-AU 5 148981422 148981422 single base substitution G T downstream_gene_variant MELA-AU 5 148981422 148981422 single base substitution G T intron_variant MELA-AU 5 148983442 148983442 single base substitution G A downstream_gene_variant MELA-AU 5 148983442 148983442 single base substitution G A intron_variant MELA-AU 5 148983847 148983847 single base substitution C T downstream_gene_variant MELA-AU 5 148983847 148983847 single base substitution C T intron_variant MELA-AU 5 148984017 148984017 single base substitution C T downstream_gene_variant MELA-AU 5 148984017 148984017 single base substitution C T intron_variant MELA-AU 5 148985210 148985210 single base substitution C T downstream_gene_variant MELA-AU 5 148985210 148985210 single base substitution C T intron_variant MELA-AU 5 148985230 148985230 single base substitution C T downstream_gene_variant MELA-AU 5 148985230 148985230 single base substitution C T intron_variant MELA-AU 5 148985473 148985473 single base substitution C T downstream_gene_variant MELA-AU 5 148985473 148985473 single base substitution C T intron_variant MELA-AU 5 148985882 148985882 single base substitution C T intron_variant MELA-AU 5 148986157 148986157 single base substitution C T intron_variant MELA-AU 5 148986779 148986779 single base substitution G T intron_variant MELA-AU 5 148986781 148986781 single base substitution C A intron_variant MELA-AU 5 148986794 148986794 single base substitution G A intron_variant MELA-AU 5 148987090 148987090 single base substitution C T intron_variant MELA-AU 5 148987437 148987437 single base substitution C T intron_variant MELA-AU 5 148988349 148988349 single base substitution C T intron_variant MELA-AU 5 148988599 148988599 single base substitution T G intron_variant MELA-AU 5 148988942 148988942 single base substitution G A intron_variant MELA-AU 5 148989208 148989208 single base substitution G A synonymous_variant R136R 408G>A MELA-AU 5 148989330 148989330 single base substitution C T intron_variant MELA-AU 5 148989468 148989468 single base substitution C T intron_variant MELA-AU 5 148989777 148989777 single base substitution G A intron_variant MELA-AU 5 148989853 148989853 single base substitution C T intron_variant MELA-AU 5 148990522 148990522 single base substitution G A intron_variant MELA-AU 5 148990586 148990586 single base substitution T C intron_variant MELA-AU 5 148990753 148990753 single base substitution G A intron_variant MELA-AU 5 148990759 148990759 single base substitution C T intron_variant MELA-AU 5 148990887 148990887 single base substitution G T intron_variant MELA-AU 5 148990982 148990982 single base substitution T C intron_variant MELA-AU 5 148991127 148991127 single base substitution G A intron_variant MELA-AU 5 148991276 148991276 single base substitution C T intron_variant MELA-AU 5 148991308 148991308 single base substitution G A intron_variant MELA-AU 5 148991342 148991342 single base substitution C T intron_variant MELA-AU 5 148991754 148991754 single base substitution G A intron_variant MELA-AU 5 148992236 148992236 single base substitution G A intron_variant MELA-AU 5 148993040 148993040 single base substitution G A intron_variant MELA-AU 5 148993340 148993340 single base substitution T C intron_variant MELA-AU 5 148993550 148993550 single base substitution C G intron_variant MELA-AU 5 148993767 148993767 single base substitution C T intron_variant MELA-AU 5 148993881 148993881 single base substitution G A intron_variant MELA-AU 5 148994180 148994180 single base substitution C T intron_variant MELA-AU 5 148994358 148994358 single base substitution C T intron_variant MELA-AU 5 148994407 148994407 single base substitution G A intron_variant MELA-AU 5 148994428 148994428 single base substitution C T intron_variant MELA-AU 5 148994529 148994529 single base substitution C T intron_variant MELA-AU 5 148994802 148994802 single base substitution C T intron_variant MELA-AU 5 148995298 148995298 single base substitution A G intron_variant MELA-AU 5 148995733 148995733 single base substitution C T intron_variant MELA-AU 5 148996160 148996160 single base substitution C T synonymous_variant F163F 489C>T MELA-AU 5 148996542 148996542 single base substitution C T intron_variant MELA-AU 5 148996853 148996853 single base substitution T A intron_variant MELA-AU 5 148997354 148997354 single base substitution C T intron_variant MELA-AU 5 148997406 148997406 single base substitution C T intron_variant MELA-AU 5 148997490 148997490 single base substitution T A intron_variant MELA-AU 5 148997517 148997517 single base substitution G T intron_variant MELA-AU 5 148997863 148997863 single base substitution C T synonymous_variant I261I 783C>T MELA-AU 5 148998023 148998024 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 5 148998651 148998651 single base substitution C T intron_variant MELA-AU 5 148999469 148999469 single base substitution C T intron_variant MELA-AU 5 148999757 148999757 single base substitution C T intron_variant MELA-AU 5 149000021 149000021 single base substitution G A synonymous_variant L333L 999G>A MELA-AU 5 149000043 149000043 single base substitution C T intron_variant MELA-AU 5 149000055 149000055 single base substitution C T intron_variant MELA-AU 5 149000614 149000614 single base substitution C T intron_variant MELA-AU 5 149000691 149000691 single base substitution G A intron_variant MELA-AU 5 149001338 149001338 single base substitution C T synonymous_variant L350L 1048C>T MELA-AU 5 149002053 149002053 single base substitution C T intron_variant MELA-AU 5 149002053 149002053 single base substitution C T upstream_gene_variant MELA-AU 5 149002226 149002226 single base substitution G A intron_variant MELA-AU 5 149002226 149002226 single base substitution G A upstream_gene_variant MELA-AU 5 149002483 149002483 single base substitution C T intron_variant MELA-AU 5 149002483 149002483 single base substitution C T upstream_gene_variant MELA-AU 5 149002759 149002759 single base substitution C T intron_variant MELA-AU 5 149002759 149002759 single base substitution C T upstream_gene_variant MELA-AU 5 149002766 149002766 single base substitution C T intron_variant MELA-AU 5 149002766 149002766 single base substitution C T upstream_gene_variant MELA-AU 5 149002867 149002867 single base substitution C T intron_variant MELA-AU 5 149002867 149002867 single base substitution C T upstream_gene_variant MELA-AU 5 149003035 149003035 single base substitution C T intron_variant MELA-AU 5 149003035 149003035 single base substitution C T upstream_gene_variant MELA-AU 5 149003423 149003423 single base substitution G A intron_variant MELA-AU 5 149003423 149003423 single base substitution G A upstream_gene_variant MELA-AU 5 149003770 149003770 single base substitution C T intron_variant MELA-AU 5 149003770 149003770 single base substitution C T upstream_gene_variant MELA-AU 5 149003815 149003815 single base substitution T C intron_variant MELA-AU 5 149003815 149003815 single base substitution T C upstream_gene_variant MELA-AU 5 149004376 149004377 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 149004376 149004377 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 149004725 149004725 single base substitution C T intron_variant MELA-AU 5 149004725 149004725 single base substitution C T upstream_gene_variant MELA-AU 5 149004899 149004899 single base substitution C T intron_variant MELA-AU 5 149004899 149004899 single base substitution C T upstream_gene_variant MELA-AU 5 149005055 149005055 single base substitution G A intron_variant MELA-AU 5 149005055 149005055 single base substitution G A upstream_gene_variant MELA-AU 5 149005124 149005124 single base substitution C T intron_variant MELA-AU 5 149005124 149005124 single base substitution C T upstream_gene_variant MELA-AU 5 149005457 149005457 single base substitution G T intron_variant MELA-AU 5 149005457 149005457 single base substitution G T upstream_gene_variant MELA-AU 5 149005537 149005537 single base substitution C T intron_variant MELA-AU 5 149005537 149005537 single base substitution C T upstream_gene_variant MELA-AU 5 149006390 149006390 single base substitution G A intron_variant MELA-AU 5 149006390 149006390 single base substitution G A upstream_gene_variant MELA-AU 5 149006427 149006427 single base substitution G A intron_variant MELA-AU 5 149006427 149006427 single base substitution G A upstream_gene_variant MELA-AU 5 149006698 149006698 single base substitution G A exon_variant MELA-AU 5 149006698 149006698 single base substitution G A synonymous_variant G508G 1524G>A MELA-AU 5 149006913 149006913 single base substitution C T intron_variant MELA-AU 5 149007016 149007016 single base substitution G A intron_variant MELA-AU 5 149007173 149007173 single base substitution C T intron_variant MELA-AU 5 149007330 149007330 single base substitution C T intron_variant MELA-AU 5 149008225 149008225 single base substitution G A intron_variant MELA-AU 5 149008273 149008273 single base substitution G A intron_variant MELA-AU 5 149008485 149008485 single base substitution G A exon_variant MELA-AU 5 149008485 149008485 single base substitution G A missense_variant E592K 1774G>A MELA-AU 5 149008754 149008754 single base substitution G A intron_variant MELA-AU 5 149008916 149008916 single base substitution G A intron_variant MELA-AU 5 149009054 149009054 single base substitution G A intron_variant MELA-AU 5 149009709 149009709 single base substitution C A intron_variant MELA-AU 5 149009883 149009883 single base substitution T A intron_variant MELA-AU 5 149009895 149009895 single base substitution C T intron_variant MELA-AU 5 149009961 149009961 single base substitution G A intron_variant MELA-AU 5 149010031 149010031 single base substitution C T intron_variant MELA-AU 5 149010150 149010150 single base substitution G A intron_variant MELA-AU 5 149010243 149010243 single base substitution C T intron_variant MELA-AU 5 149010552 149010552 single base substitution C T intron_variant MELA-AU 5 149010691 149010691 single base substitution C T intron_variant MELA-AU 5 149010702 149010702 single base substitution C T intron_variant MELA-AU 5 149010706 149010706 single base substitution C T intron_variant MELA-AU 5 149010993 149010993 single base substitution C T intron_variant MELA-AU 5 149012702 149012702 single base substitution T G 3_prime_UTR_variant MELA-AU 5 149012702 149012702 single base substitution T G downstream_gene_variant MELA-AU 5 149013372 149013372 single base substitution C T 3_prime_UTR_variant MELA-AU 5 149013372 149013372 single base substitution C T downstream_gene_variant MELA-AU 5 149013388 149013388 single base substitution C T 3_prime_UTR_variant MELA-AU 5 149013388 149013388 single base substitution C T downstream_gene_variant MELA-AU 5 149013684 149013684 single base substitution C T 3_prime_UTR_variant MELA-AU 5 149013684 149013684 single base substitution C T downstream_gene_variant MELA-AU 5 149013780 149013780 single base substitution G A 3_prime_UTR_variant MELA-AU 5 149013780 149013780 single base substitution G A downstream_gene_variant MELA-AU 5 149013867 149013867 single base substitution C T 3_prime_UTR_variant MELA-AU 5 149013867 149013867 single base substitution C T downstream_gene_variant MELA-AU 5 149014378 149014378 single base substitution C T 3_prime_UTR_variant MELA-AU 5 149014378 149014378 single base substitution C T downstream_gene_variant MELA-AU 5 149014701 149014701 single base substitution G A downstream_gene_variant MELA-AU 5 149015235 149015235 single base substitution C T downstream_gene_variant MELA-AU 5 149015240 149015240 single base substitution G A downstream_gene_variant MELA-AU 5 149015468 149015469 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 149015827 149015828 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 149015903 149015903 single base substitution C T downstream_gene_variant MELA-AU 5 149016395 149016395 single base substitution C T downstream_gene_variant MELA-AU 5 149016528 149016528 single base substitution G A downstream_gene_variant MELA-AU 5 149016820 149016820 single base substitution G A downstream_gene_variant MELA-AU 5 149017350 149017350 single base substitution C T downstream_gene_variant MELA-AU 5 149017376 149017376 single base substitution C T downstream_gene_variant MELA-AU 5 149017783 149017783 single base substitution C T downstream_gene_variant MELA-AU 5 149017997 149017998 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 149018009 149018009 single base substitution G A downstream_gene_variant MELA-AU 5 149018074 149018074 single base substitution G A downstream_gene_variant MELA-AU 5 149018390 149018390 single base substitution C A downstream_gene_variant MELA-AU 5 149018474 149018474 single base substitution C T downstream_gene_variant MELA-AU 5 149018488 149018488 single base substitution C T downstream_gene_variant MELA-AU 5 149018553 149018553 single base substitution C T downstream_gene_variant MELA-AU 5 149018606 149018606 single base substitution C T downstream_gene_variant MELA-AU 5 149018737 149018737 single base substitution G A downstream_gene_variant MELA-AU 5 149018964 149018964 single base substitution G A downstream_gene_variant MELA-AU 5 149019215 149019215 single base substitution G A downstream_gene_variant ORCA-IN 5 148930440 148930440 single base substitution C A upstream_gene_variant ORCA-IN 5 148940737 148940737 single base substitution G A intron_variant ORCA-IN 5 148979842 148979842 single base substitution T A intron_variant ORCA-IN 5 148982070 148982070 single base substitution A T downstream_gene_variant ORCA-IN 5 148982070 148982070 single base substitution A T intron_variant ORCA-IN 5 148999918 148999918 single base substitution C A missense_variant A299D 896C>A ORCA-IN 5 149003575 149003575 single base substitution C T splice_region_variant ORCA-IN 5 149003575 149003575 single base substitution C T upstream_gene_variant ORCA-IN 5 149006653 149006653 single base substitution G T exon_variant ORCA-IN 5 149006653 149006653 single base substitution G T synonymous_variant G493G 1479G>T ORCA-IN 5 149008492 149008492 single base substitution G T exon_variant ORCA-IN 5 149008492 149008492 single base substitution G T missense_variant S594I 1781G>T OV-AU 5 148930332 148930332 single base substitution G A upstream_gene_variant OV-AU 5 148934779 148934779 single base substitution C G intron_variant OV-AU 5 148938248 148938248 single base substitution A G intron_variant OV-AU 5 148948598 148948598 single base substitution A C intron_variant OV-AU 5 148950260 148950260 single base substitution G T intron_variant OV-AU 5 148952098 148952098 single base substitution A C intron_variant OV-AU 5 148952145 148952145 single base substitution G C intron_variant OV-AU 5 148952867 148952867 single base substitution G C intron_variant OV-AU 5 148959631 148959631 single base substitution C G intron_variant OV-AU 5 148959631 148959631 single base substitution C G upstream_gene_variant OV-AU 5 148962401 148962401 single base substitution C G intron_variant OV-AU 5 148967462 148967462 single base substitution T C intron_variant OV-AU 5 148969979 148969979 single base substitution G A intron_variant OV-AU 5 148976919 148976919 single base substitution C T intron_variant OV-AU 5 148979772 148979772 single base substitution A G intron_variant OV-AU 5 148982330 148982330 single base substitution T C downstream_gene_variant OV-AU 5 148982330 148982330 single base substitution T C intron_variant OV-AU 5 148987437 148987437 single base substitution C T intron_variant OV-AU 5 148988558 148988558 single base substitution G A intron_variant OV-AU 5 149010715 149010715 single base substitution C T intron_variant OV-AU 5 149010743 149010743 single base substitution C T intron_variant OV-AU 5 149013232 149013232 single base substitution G A 3_prime_UTR_variant OV-AU 5 149013232 149013232 single base substitution G A downstream_gene_variant OV-AU 5 149013315 149013315 single base substitution A C 3_prime_UTR_variant OV-AU 5 149013315 149013315 single base substitution A C downstream_gene_variant OV-AU 5 149015288 149015288 single base substitution G C downstream_gene_variant OV-AU 5 149017093 149017093 single base substitution C T downstream_gene_variant PACA-AU 5 148932126 148932126 single base substitution C T intron_variant PACA-AU 5 148935930 148935930 insertion of <=200bp - TATTTATT intron_variant PACA-AU 5 148936347 148936347 single base substitution A C intron_variant PACA-AU 5 148937268 148937268 single base substitution A G intron_variant PACA-AU 5 148938298 148938298 single base substitution G A intron_variant PACA-AU 5 148949393 148949393 single base substitution A T intron_variant PACA-AU 5 148955010 148955010 single base substitution G C intron_variant PACA-AU 5 148955930 148955930 single base substitution G A intron_variant PACA-AU 5 148956948 148956948 single base substitution A T intron_variant PACA-AU 5 148956948 148956948 single base substitution A T upstream_gene_variant PACA-AU 5 148961173 148961173 single base substitution A G 5_prime_UTR_variant PACA-AU 5 148961173 148961173 single base substitution A G intron_variant PACA-AU 5 148962354 148962354 single base substitution A T intron_variant PACA-AU 5 148968886 148968886 single base substitution T A intron_variant PACA-AU 5 148977018 148977018 single base substitution C T intron_variant PACA-AU 5 148978364 148978364 single base substitution T G intron_variant PACA-AU 5 148982600 148982600 single base substitution A C downstream_gene_variant PACA-AU 5 148982600 148982600 single base substitution A C intron_variant PACA-AU 5 148988591 148988591 single base substitution T C intron_variant PACA-AU 5 148996406 148996406 single base substitution C A intron_variant PACA-AU 5 149000698 149000698 single base substitution A T intron_variant PACA-AU 5 149002847 149002847 single base substitution T C intron_variant PACA-AU 5 149002847 149002847 single base substitution T C upstream_gene_variant PACA-AU 5 149010869 149010869 single base substitution G T intron_variant PACA-AU 5 149010906 149010906 single base substitution G T intron_variant PACA-CA 5 148927247 148927247 single base substitution A T upstream_gene_variant PACA-CA 5 148931974 148931974 single base substitution T G intron_variant PACA-CA 5 148932161 148932161 single base substitution G C intron_variant PACA-CA 5 148934127 148934127 single base substitution G T intron_variant PACA-CA 5 148934522 148934522 single base substitution G A intron_variant PACA-CA 5 148935963 148935963 insertion of <=200bp - TTTG intron_variant PACA-CA 5 148936977 148936977 single base substitution T C intron_variant PACA-CA 5 148937045 148937045 single base substitution A G intron_variant PACA-CA 5 148939957 148939957 single base substitution G A intron_variant PACA-CA 5 148943606 148943606 single base substitution C T intron_variant PACA-CA 5 148944187 148944187 single base substitution A C intron_variant PACA-CA 5 148946230 148946230 single base substitution T C intron_variant PACA-CA 5 148946654 148946654 single base substitution T C intron_variant PACA-CA 5 148947787 148947787 single base substitution G A intron_variant PACA-CA 5 148948530 148948530 single base substitution A T intron_variant PACA-CA 5 148958206 148958206 single base substitution C A intron_variant PACA-CA 5 148958206 148958206 single base substitution C A upstream_gene_variant PACA-CA 5 148969438 148969438 single base substitution C T intron_variant PACA-CA 5 148972354 148972354 single base substitution A G intron_variant PACA-CA 5 148972987 148972996 deletion of <=200bp TGTGACCCTT - intron_variant PACA-CA 5 148974887 148974887 single base substitution T C intron_variant PACA-CA 5 148976795 148976795 single base substitution T C intron_variant PACA-CA 5 148977927 148977929 deletion of <=200bp TCT - intron_variant PACA-CA 5 148978352 148978352 single base substitution T C intron_variant PACA-CA 5 148980952 148980952 single base substitution G A downstream_gene_variant PACA-CA 5 148980952 148980952 single base substitution G A intron_variant PACA-CA 5 148981114 148981114 single base substitution C T downstream_gene_variant PACA-CA 5 148981114 148981114 single base substitution C T intron_variant PACA-CA 5 148983974 148983974 single base substitution C T downstream_gene_variant PACA-CA 5 148983974 148983974 single base substitution C T intron_variant PACA-CA 5 148988043 148988043 single base substitution C T intron_variant PACA-CA 5 148991643 148991643 single base substitution T C intron_variant PACA-CA 5 148991878 148991878 single base substitution C T intron_variant PACA-CA 5 148993091 148993091 single base substitution G A intron_variant PACA-CA 5 148994088 148994088 single base substitution G A intron_variant PACA-CA 5 148995106 148995106 single base substitution T C intron_variant PACA-CA 5 148995860 148995860 single base substitution G A intron_variant PACA-CA 5 148997194 148997194 single base substitution G A intron_variant PACA-CA 5 149006889 149006889 single base substitution A T intron_variant PACA-CA 5 149009128 149009128 single base substitution G A intron_variant PACA-CA 5 149014778 149014778 single base substitution C T downstream_gene_variant PACA-CA 5 149016301 149016301 single base substitution C G downstream_gene_variant PACA-CA 5 149016915 149016915 single base substitution T G downstream_gene_variant PAEN-AU 5 148967453 148967453 insertion of <=200bp - TAGTC intron_variant PAEN-AU 5 148998399 148998399 single base substitution C A intron_variant PAEN-IT 5 148963390 148963390 single base substitution C T intron_variant PAEN-IT 5 148965556 148965556 single base substitution C G intron_variant PAEN-IT 5 148975753 148975753 single base substitution C G intron_variant PAEN-IT 5 149016776 149016776 single base substitution T G downstream_gene_variant PBCA-DE 5 148927419 148927419 insertion of <=200bp - T upstream_gene_variant PBCA-DE 5 148933409 148933409 single base substitution G T intron_variant PBCA-DE 5 148938078 148938078 insertion of <=200bp - A intron_variant PBCA-DE 5 148943992 148943992 single base substitution A G intron_variant PBCA-DE 5 148947618 148947618 deletion of <=200bp T - intron_variant PBCA-DE 5 148957867 148957867 single base substitution T A intron_variant PBCA-DE 5 148957867 148957867 single base substitution T A upstream_gene_variant PBCA-DE 5 148972979 148972979 single base substitution A G intron_variant PBCA-DE 5 148978998 148978998 insertion of <=200bp - TTATTTATTTAT intron_variant PBCA-DE 5 148983434 148983434 single base substitution G T downstream_gene_variant PBCA-DE 5 148983434 148983434 single base substitution G T intron_variant PBCA-DE 5 148984194 148984194 single base substitution C T downstream_gene_variant PBCA-DE 5 148984194 148984194 single base substitution C T intron_variant PBCA-DE 5 148984402 148984402 single base substitution C T downstream_gene_variant PBCA-DE 5 148984402 148984402 single base substitution C T intron_variant PBCA-DE 5 148987311 148987311 single base substitution G A intron_variant PBCA-DE 5 148988192 148988192 single base substitution C T intron_variant PBCA-DE 5 149004032 149004032 single base substitution A G intron_variant PBCA-DE 5 149004032 149004032 single base substitution A G upstream_gene_variant PBCA-DE 5 149008520 149008520 single base substitution C T exon_variant PBCA-DE 5 149008520 149008520 single base substitution C T synonymous_variant T603T 1809C>T PBCA-DE 5 149010540 149010540 single base substitution C T intron_variant PBCA-DE 5 149019050 149019050 single base substitution C A downstream_gene_variant PRAD-CA 5 148938300 148938300 single base substitution G A intron_variant PRAD-CA 5 148948919 148948919 single base substitution T A intron_variant PRAD-CA 5 148958120 148958120 single base substitution T C intron_variant PRAD-CA 5 148958120 148958120 single base substitution T C upstream_gene_variant PRAD-CA 5 148977930 148977930 single base substitution T C intron_variant PRAD-CA 5 148992898 148992898 single base substitution G C intron_variant PRAD-CA 5 148993112 148993112 single base substitution G T intron_variant PRAD-CA 5 149009215 149009215 single base substitution G A intron_variant PRAD-CA 5 149016371 149016371 single base substitution C G downstream_gene_variant PRAD-UK 5 148932618 148932618 single base substitution G T intron_variant PRAD-UK 5 148939241 148939241 single base substitution T G intron_variant PRAD-UK 5 148947211 148947211 single base substitution G A intron_variant PRAD-UK 5 148947313 148947313 single base substitution A C intron_variant PRAD-UK 5 148961537 148961537 single base substitution G T intron_variant PRAD-UK 5 148961978 148961978 single base substitution C G intron_variant PRAD-UK 5 148964779 148964779 single base substitution C T intron_variant PRAD-UK 5 148998748 148998748 single base substitution G T intron_variant PRAD-UK 5 149013121 149013121 single base substitution G A 3_prime_UTR_variant PRAD-UK 5 149013121 149013121 single base substitution G A downstream_gene_variant PRAD-US 5 149011707 149011707 single base substitution G C downstream_gene_variant PRAD-US 5 149011707 149011707 single base substitution G C missense_variant A661P 1981G>C RECA-EU 5 148927610 148927610 single base substitution T A upstream_gene_variant RECA-EU 5 148930264 148930264 single base substitution A G upstream_gene_variant RECA-EU 5 148958920 148958920 single base substitution G A intron_variant RECA-EU 5 148958920 148958920 single base substitution G A upstream_gene_variant RECA-EU 5 148981195 148981195 single base substitution A G downstream_gene_variant RECA-EU 5 148981195 148981195 single base substitution A G intron_variant RECA-EU 5 148988248 148988248 single base substitution A G intron_variant RECA-EU 5 148993637 148993637 single base substitution T G intron_variant RECA-EU 5 148994765 148994765 single base substitution T C intron_variant RECA-EU 5 149006954 149006954 single base substitution A T intron_variant RECA-EU 5 149008715 149008715 single base substitution C T intron_variant RECA-EU 5 149016346 149016346 single base substitution A T downstream_gene_variant RECA-EU 5 149016433 149016433 single base substitution T G downstream_gene_variant SKCA-BR 5 148927920 148927920 single base substitution A G upstream_gene_variant SKCA-BR 5 148929159 148929159 single base substitution G C upstream_gene_variant SKCA-BR 5 148929346 148929346 single base substitution C T upstream_gene_variant SKCA-BR 5 148933490 148933490 single base substitution G A intron_variant SKCA-BR 5 148933491 148933491 single base substitution G A intron_variant SKCA-BR 5 148934210 148934210 insertion of <=200bp - GT intron_variant SKCA-BR 5 148935264 148935264 single base substitution T G intron_variant SKCA-BR 5 148938294 148938302 deletion of <=200bp GTGTGTGTA - intron_variant SKCA-BR 5 148941777 148941777 single base substitution G A intron_variant SKCA-BR 5 148942489 148942489 single base substitution C T intron_variant SKCA-BR 5 148943761 148943761 single base substitution C T intron_variant SKCA-BR 5 148946078 148946078 single base substitution C T intron_variant SKCA-BR 5 148946626 148946626 single base substitution C T intron_variant SKCA-BR 5 148947628 148947628 single base substitution C T intron_variant SKCA-BR 5 148948553 148948553 single base substitution C T intron_variant SKCA-BR 5 148949283 148949283 single base substitution G A intron_variant SKCA-BR 5 148951490 148951490 single base substitution G A intron_variant SKCA-BR 5 148954279 148954279 single base substitution A C intron_variant SKCA-BR 5 148956032 148956032 single base substitution G A intron_variant SKCA-BR 5 148958387 148958387 single base substitution C T intron_variant SKCA-BR 5 148958387 148958387 single base substitution C T upstream_gene_variant SKCA-BR 5 148960908 148960908 single base substitution C T intron_variant SKCA-BR 5 148960908 148960908 single base substitution C T upstream_gene_variant SKCA-BR 5 148962365 148962365 insertion of <=200bp - TA intron_variant SKCA-BR 5 148967761 148967761 insertion of <=200bp - TTTTG intron_variant SKCA-BR 5 148968848 148968848 single base substitution A T intron_variant SKCA-BR 5 148969014 148969014 single base substitution C T intron_variant SKCA-BR 5 148969845 148969845 insertion of <=200bp - CT intron_variant SKCA-BR 5 148971929 148971929 single base substitution T C intron_variant SKCA-BR 5 148975508 148975509 deletion of <=200bp AT - intron_variant SKCA-BR 5 148975565 148975565 single base substitution T G intron_variant SKCA-BR 5 148976112 148976112 single base substitution C A intron_variant SKCA-BR 5 148977829 148977829 single base substitution T C intron_variant SKCA-BR 5 148977911 148977926 deletion of <=200bp TTCTTCTTCCTCTTCC - intron_variant SKCA-BR 5 148977911 148977941 deletion of <=200bp TTCTTCTTCCTCTTCCTCTTCTTCCTCTTCC - intron_variant SKCA-BR 5 148978313 148978313 single base substitution C A intron_variant SKCA-BR 5 148978340 148978342 deletion of <=200bp GAT - intron_variant SKCA-BR 5 148980166 148980166 single base substitution C T intron_variant SKCA-BR 5 148981622 148981624 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 5 148981622 148981624 deletion of <=200bp CTT - intron_variant SKCA-BR 5 148982363 148982363 single base substitution T A downstream_gene_variant SKCA-BR 5 148982363 148982363 single base substitution T A intron_variant SKCA-BR 5 148984272 148984276 deletion of <=200bp ATCTC - downstream_gene_variant SKCA-BR 5 148984272 148984276 deletion of <=200bp ATCTC - intron_variant SKCA-BR 5 148984805 148984805 single base substitution G A downstream_gene_variant SKCA-BR 5 148984805 148984805 single base substitution G A intron_variant SKCA-BR 5 148985617 148985617 single base substitution G A downstream_gene_variant SKCA-BR 5 148985617 148985617 single base substitution G A intron_variant SKCA-BR 5 148985714 148985714 single base substitution G A downstream_gene_variant SKCA-BR 5 148985714 148985714 single base substitution G A intron_variant SKCA-BR 5 148987654 148987654 single base substitution G A intron_variant SKCA-BR 5 148989950 148989950 single base substitution C T intron_variant SKCA-BR 5 148990171 148990171 single base substitution C T intron_variant SKCA-BR 5 148991177 148991177 single base substitution C T intron_variant SKCA-BR 5 148993327 148993328 deletion of <=200bp CT - intron_variant SKCA-BR 5 148993375 148993375 single base substitution G T intron_variant SKCA-BR 5 148994185 148994185 single base substitution G A intron_variant SKCA-BR 5 148994868 148994868 insertion of <=200bp - AT intron_variant SKCA-BR 5 148995273 148995273 single base substitution T G intron_variant SKCA-BR 5 149000043 149000043 single base substitution C T intron_variant SKCA-BR 5 149001571 149001571 single base substitution C T synonymous_variant L427L 1281C>T SKCA-BR 5 149001571 149001571 single base substitution C T upstream_gene_variant SKCA-BR 5 149004463 149004463 insertion of <=200bp - GT intron_variant SKCA-BR 5 149004463 149004463 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 5 149005804 149005804 insertion of <=200bp - AAC intron_variant SKCA-BR 5 149005804 149005804 insertion of <=200bp - AAC upstream_gene_variant SKCA-BR 5 149009136 149009136 single base substitution G A intron_variant SKCA-BR 5 149010207 149010207 single base substitution C T intron_variant SKCA-BR 5 149016023 149016023 single base substitution T C downstream_gene_variant SKCA-BR 5 149016077 149016077 single base substitution C T downstream_gene_variant SKCA-BR 5 149018509 149018509 single base substitution G A downstream_gene_variant SKCM-US 5 148929728 148929728 single base substitution A G upstream_gene_variant SKCM-US 5 148989212 148989212 single base substitution G A missense_variant E138K 412G>A SKCM-US 5 148996174 148996174 single base substitution C T missense_variant P168L 503C>T SKCM-US 5 149001409 149001409 single base substitution G A synonymous_variant R373R 1119G>A SKCM-US 5 149001489 149001489 single base substitution C T missense_variant S400L 1199C>T SKCM-US 5 149001489 149001489 single base substitution C T upstream_gene_variant SKCM-US 5 149001562 149001562 single base substitution C T synonymous_variant F424F 1272C>T SKCM-US 5 149001562 149001562 single base substitution C T upstream_gene_variant SKCM-US 5 149003603 149003603 single base substitution C T missense_variant A455V 1364C>T SKCM-US 5 149003603 149003603 single base substitution C T upstream_gene_variant SKCM-US 5 149003640 149003640 single base substitution G A synonymous_variant T467T 1401G>A SKCM-US 5 149003640 149003640 single base substitution G A upstream_gene_variant SKCM-US 5 149006709 149006709 single base substitution A T exon_variant SKCM-US 5 149006709 149006709 single base substitution A T missense_variant Q512L 1535A>T SKCM-US 5 149008485 149008485 single base substitution G A exon_variant SKCM-US 5 149008485 149008485 single base substitution G A missense_variant E592K 1774G>A STAD-US 5 148977438 148977438 single base substitution C T missense_variant R36W 106C>T STAD-US 5 148980674 148980674 single base substitution C T missense_variant P64S 190C>T STAD-US 5 148980761 148980761 single base substitution G T missense_variant A93S 277G>T STAD-US 5 149001301 149001301 single base substitution A T missense_variant Q337H 1011A>T STAD-US 5 149003664 149003664 single base substitution A G synonymous_variant Q475Q 1425A>G STAD-US 5 149003664 149003664 single base substitution A G upstream_gene_variant STAD-US 5 149003693 149003693 single base substitution C T missense_variant P485L 1454C>T STAD-US 5 149003693 149003693 single base substitution C T upstream_gene_variant STAD-US 5 149006814 149006814 single base substitution G A exon_variant STAD-US 5 149006814 149006814 single base substitution G A missense_variant R547H 1640G>A THCA-SA 5 148989216 148989216 single base substitution C T missense_variant P139L 416C>T THCA-SA 5 149003636 149003636 single base substitution G A missense_variant R466Q 1397G>A THCA-SA 5 149003636 149003636 single base substitution G A upstream_gene_variant THCA-SA 5 149006831 149006831 single base substitution G A exon_variant THCA-SA 5 149006831 149006831 single base substitution G A missense_variant G553R 1657G>A THCA-SA 5 149013844 149013844 single base substitution T A 3_prime_UTR_variant THCA-SA 5 149013844 149013844 single base substitution T A downstream_gene_variant THCA-SA 5 149014418 149014418 single base substitution A G 3_prime_UTR_variant THCA-SA 5 149014418 149014418 single base substitution A G downstream_gene_variant UCEC-US 5 148929646 148929646 single base substitution G T upstream_gene_variant UCEC-US 5 148989227 148989227 single base substitution C T missense_variant R143W 427C>T UCEC-US 5 148996252 148996252 single base substitution C A missense_variant P194H 581C>A UCEC-US 5 148996278 148996278 single base substitution C T missense_variant L203F 607C>T UCEC-US 5 148997782 148997782 single base substitution G A synonymous_variant R234R 702G>A UCEC-US 5 148998550 148998550 single base substitution C T missense_variant S280F 839C>T UCEC-US 5 148999980 148999980 single base substitution T C missense_variant Y320H 958T>C UCEC-US 5 149001407 149001407 single base substitution C T missense_variant R373W 1117C>T UCEC-US 5 149006760 149006760 single base substitution G A exon_variant UCEC-US 5 149006760 149006760 single base substitution G A missense_variant R529Q 1586G>A UCEC-US 5 149011705 149011705 single base substitution T C downstream_gene_variant UCEC-US 5 149011705 149011705 single base substitution T C missense_variant L660S 1979T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 19M COSM5578063 c.1967C>T p.P656L Substitution - Missense 5:149632130-149632130 + PT27 COSM5905604 c.502C>T p.P168S Substitution - Missense 5:149616610-149616610 + PTC-7C COSM4159626 c.1261A>C p.M421L Substitution - Missense 5:149621988-149621988 + 2492723 COSM5723803 c.919G>A p.E307K Substitution - Missense 5:149620378-149620378 + TCGA-A5-A0VP-01 COSM1064181 c.581C>A p.P194H Substitution - Missense 5:149616689-149616689 + RMS106_ COSM4986449 c.1063C>T p.L355F Substitution - Missense 5:149621790-149621790 + TCGA-G2-A2EO-01 COSM1310838 c.1520C>G p.P507R Substitution - Missense 5:149627131-149627131 + DLD1 COSM4625478 c.1140G>T p.E380D Substitution - Missense 5:149621867-149621867 + GC8_T COSM149985 c.1552A>C p.S518R Substitution - Missense 5:149627163-149627163 + sysucc-627T COSM3761027 c.1756C>A p.P586T Substitution - Missense 5:149628904-149628904 + ESO-003 COSM1245427 c.1463delA p.Q488fs*15 Deletion - Frameshift 5:149624139-149624139 + TCGA-GN-A266-06 COSM3612365 c.1774G>A p.E592K Substitution - Missense 5:149628922-149628922 + TCGA-BR-8588-01 COSM3852664 c.106C>T p.R36W Substitution - Missense 5:149597875-149597875 + TCGA-AP-A059-01 COSM1064184 c.839C>T p.S280F Substitution - Missense 5:149618987-149618987 + 526LT COSM149985 c.1552A>C p.S518R Substitution - Missense 5:149627163-149627163 + ESO-1154 COSM1245428 c.891G>T p.L297L Substitution - coding silent 5:149619039-149619039 + HCC3 COSM1619829 c.789+6C>T p.? Unknown 5:149618312-149618312 + TCGA-AP-A059-01 COSM1064183 c.702G>A p.R234R Substitution - coding silent 5:149618219-149618219 + CSCC-29-T COSM4472858 c.180C>T p.L60L Substitution - coding silent 5:149597949-149597949 + SW620 COSM3211639 c.569C>T p.A190V Substitution - Missense 5:149616677-149616677 + TCGA-BR-6452-01 COSM3852668 c.1011A>T p.Q337H Substitution - Missense 5:149621738-149621738 + YUMOBER COSM5402672 c.942G>A p.E314E Substitution - coding silent 5:149620401-149620401 + 18472 COSM5615488 c.811G>A p.D271N Substitution - Missense 5:149618959-149618959 + RKO COSM3211653 c.1392G>T p.L464L Substitution - coding silent 5:149624068-149624068 + 49M COSM5589731 c.1281C>T p.L427L Substitution - coding silent 5:149622008-149622008 + CSCC-18-T COSM4531978 c.1843G>A p.A615T Substitution - Missense 5:149632006-149632006 + MedB-1 COSM5620305 c.1012C>T p.R338W Substitution - Missense 5:149621739-149621739 + TCGA-EB-A553-01 COSM3612364 c.1535A>T p.Q512L Substitution - Missense 5:149627146-149627146 + TCGA-MS-A51U-01 COSM3211663 c.1700A>G p.Y567C Substitution - Missense 5:149628848-149628848 + WA16 COSM238839 c.1990C>T p.R664W Substitution - Missense 5:149632153-149632153 + P115 COSM1736500 c.1262T>C p.M421T Substitution - Missense 5:149621989-149621989 + LN229 COSM3211636 c.448G>T p.E150* Substitution - Nonsense 5:149609685-149609685 + 186T COSM1726465 c.573T>A p.S191R Substitution - Missense 5:149616681-149616681 + 587350 COSM1183531 c.1640G>A p.R547H Substitution - Missense 5:149627251-149627251 + TCGA-CH-5739-01 COSM1130838 c.1981G>C p.A661P Substitution - Missense 5:149632144-149632144 + KM12 COSM3211649 c.1234C>T p.L412L Substitution - coding silent 5:149621961-149621961 + T7 COSM3761026 c.1466C>T p.P489L Substitution - Missense 5:149627077-149627077 + RH30SJ_ COSM4985265 c.75C>G p.D25E Substitution - Missense 5:149597844-149597844 + TCGA-C5-A1MQ-01 COSM4827300 c.1799C>G p.S600C Substitution - Missense 5:149628947-149628947 + TCGA-16-0861-01 COSM3409991 c.710G>A p.R237H Substitution - Missense 5:149618227-149618227 + TCGA-AP-A056-01 COSM1064179 c.427C>T p.R143W Substitution - Missense 5:149609664-149609664 + 250LT COSM149984 c.1388C>T p.A463V Substitution - Missense 5:149624064-149624064 + TCGA-B5-A0JY-01 COSM1064182 c.607C>T p.L203F Substitution - Missense 5:149616715-149616715 + TCGA-BR-8589-01 COSM3852669 c.1425A>G p.Q475Q Substitution - coding silent 5:149624101-149624101 + TCGA-MI-A75I-01 COSM4930293 c.632A>G p.N211S Substitution - Missense 5:149616740-149616740 + TCGA-F4-6807-01 COSM1435091 c.842_849delTGTGTGTG p.L281fs*2 Deletion - Frameshift 5:149618990-149618997 + 526LT COSM149984 c.1388C>T p.A463V Substitution - Missense 5:149624064-149624064 + PD6367a COSM1637406 c.47C>T p.P16L Substitution - Missense 5:149597816-149597816 + HCT15 COSM3211635 c.440G>A p.G147D Substitution - Missense 5:149609677-149609677 + TCGA-AU-6004-01 COSM1435093 c.1199C>T p.S400L Substitution - Missense 5:149621926-149621926 + TCGA-D3-A5GO-06 COSM3612360 c.503C>T p.P168L Substitution - Missense 5:149616611-149616611 + TCGA-AA-3511-01 COSM1435092 c.973_974delAG p.D326fs*4 Deletion - Frameshift 5:149620432-149620433 + TCGA-DK-A3IS-01 COSM1310837 c.909C>T p.F303F Substitution - coding silent 5:149620368-149620368 + T3104 COSM4663171 c.1585C>T p.R529W Substitution - Missense 5:149627196-149627196 + 18 COSM5011525 c.529C>A p.L177M Substitution - Missense 5:149616637-149616637 + TCGA-BR-4184-01 COSM3852666 c.277G>T p.A93S Substitution - Missense 5:149601198-149601198 + SNUH_G76_S1 COSM4417445 c.871G>A p.A291T Substitution - Missense 5:149619019-149619019 + 3T COSM3715138 c.896C>A p.A299D Substitution - Missense 5:149620355-149620355 + 250LT COSM149985 c.1552A>C p.S518R Substitution - Missense 5:149627163-149627163 + HCC133 COSM1619830 c.1325G>A p.S442N Substitution - Missense 5:149622052-149622052 + STC232 COSM5060832 c.914C>T p.P305L Substitution - Missense 5:149620373-149620373 + TCGA-ER-A19E-06 COSM3612362 c.1364C>T p.A455V Substitution - Missense 5:149624040-149624040 + CSCC-27-T COSM4469784 c.161C>T p.S54F Substitution - Missense 5:149597930-149597930 + TCGA-EE-A29L-06 COSM3612365 c.1774G>A p.E592K Substitution - Missense 5:149628922-149628922 + CSB1 COSM5026434 c.1368C>G p.F456L Substitution - Missense 5:149624044-149624044 + T10 COSM149985 c.1552A>C p.S518R Substitution - Missense 5:149627163-149627163 + NB1952 COSM5702938 c.181C>A p.Q61K Substitution - Missense 5:149597950-149597950 + TCGA-AM-5820-01 COSM149985 c.1552A>C p.S518R Substitution - Missense 5:149627163-149627163 + CN-AML-CR-46-Dx COSM3761027 c.1756C>A p.P586T Substitution - Missense 5:149628904-149628904 + HCC133T COSM1619830 c.1325G>A p.S442N Substitution - Missense 5:149622052-149622052 + TCGA-FD-A3SL-01 COSM3776425 c.1908C>A p.D636E Substitution - Missense 5:149632071-149632071 + TCGA-D3-A5GN-06 COSM3612363 c.1401G>A p.T467T Substitution - coding silent 5:149624077-149624077 + HCT116 COSM3211645 c.948T>C p.P316P Substitution - coding silent 5:149620407-149620407 + BD173T COSM5505884 c.1171G>C p.A391P Substitution - Missense 5:149621898-149621898 + D28 COSM5544495 c.561C>T p.V187V Substitution - coding silent 5:149616669-149616669 + HDC54 COSM3211633 c.375C>T p.Y125Y Substitution - coding silent 5:149609612-149609612 + TCGA-IR-A3LA-01 COSM4844822 c.42G>A p.G14G Substitution - coding silent 5:149597811-149597811 + CN-AML-CR-54-Dx COSM3761027 c.1756C>A p.P586T Substitution - Missense 5:149628904-149628904 + TCGA-DD-A4NV-01 COSM4916409 c.1396C>T p.R466W Substitution - Missense 5:149624072-149624072 + TCGA-EE-A2MR-06 COSM3612361 c.1119G>A p.R373R Substitution - coding silent 5:149621846-149621846 + CSCC-41-T COSM4512361 c.900C>T p.F300F Substitution - coding silent 5:149620359-149620359 + HCC3T COSM1619829 c.789+6C>T p.? Unknown 5:149618312-149618312 + I2L-P19Ta-Tumor-Organoid COSM5356508 c.158C>T p.A53V Substitution - Missense 5:149597927-149597927 + T96 COSM4663170 c.1013G>A p.R338Q Substitution - Missense 5:149621740-149621740 + SNUH_G16_S1 COSM149985 c.1552A>C p.S518R Substitution - Missense 5:149627163-149627163 + I2L-P19Ta-Tumor-Biopsy COSM5356508 c.158C>T p.A53V Substitution - Missense 5:149597927-149597927 + TCGA-AA-A010-01 COSM278969 c.1540A>G p.T514A Substitution - Missense 5:149627151-149627151 + pfg034T COSM4762459 c.967T>A p.L323M Substitution - Missense 5:149620426-149620426 + PTC-7C COSM4159628 c.1810A>G p.M604V Substitution - Missense 5:149628958-149628958 + TCGA-AM-5820-01 COSM149983 c.322C>T p.L108L Substitution - coding silent 5:149609559-149609559 + TCGA-FS-A1ZK-06 COSM3919324 c.1272C>T p.F424F Substitution - coding silent 5:149621999-149621999 + PC-9BRc1 COSM1685073 c.738G>C p.K246N Substitution - Missense 5:149618255-149618255 + SNU-175 COSM3211663 c.1700A>G p.Y567C Substitution - Missense 5:149628848-149628848 + TCGA-BS-A0UF-01 COSM1064187 c.1586G>A p.R529Q Substitution - Missense 5:149627197-149627197 + TCGA-AM-5820-01 COSM3761027 c.1756C>A p.P586T Substitution - Missense 5:149628904-149628904 + SNUH_G16_S1 COSM4003394 c.1660+8A>G p.? Unknown 5:149627279-149627279 + TCGA-85-6560-01 COSM737266 c.1334A>C p.Q445P Substitution - Missense 5:149622061-149622061 + 17T COSM3715139 c.1479G>T p.G493G Substitution - coding silent 5:149627090-149627090 + 18 COSM5011526 c.613G>T p.D205Y Substitution - Missense 5:149616721-149616721 + LUAD-S01357 COSM387604 c.1654A>T p.T552S Substitution - Missense 5:149627265-149627265 + TCGA-BS-A0UJ-01 COSM1064188 c.1979T>C p.L660S Substitution - Missense 5:149632142-149632142 + 115 COSM5011527 c.1187A>G p.Q396R Substitution - Missense 5:149621914-149621914 + sysucc-1067T COSM5479845 c.1994G>A p.S665N Substitution - Missense 5:149632157-149632157 + OSCC-GB_01060111 COSM4882516 c.1336C>T p.L446L Substitution - coding silent 5:149624012-149624012 + TCGA-13-0919-01 COSM117913 c.2013G>A p.W671* Substitution - Nonsense 5:149632176-149632176 + GC8_T COSM149983 c.322C>T p.L108L Substitution - coding silent 5:149609559-149609559 + SNUH_G16_S1 COSM4003393 c.1466C>A p.P489Q Substitution - Missense 5:149627077-149627077 + 2492720 COSM5723803 c.919G>A p.E307K Substitution - Missense 5:149620378-149620378 + BN49T COSM1619828 c.550G>C p.E184Q Substitution - Missense 5:149616658-149616658 + C004 COSM5521531 c.1093C>T p.L365L Substitution - coding silent 5:149621820-149621820 + GC8_T COSM149984 c.1388C>T p.A463V Substitution - Missense 5:149624064-149624064 + RMS105_ COSM4986048 c.694C>T p.R232W Substitution - Missense 5:149618211-149618211 + TCGA-D1-A167-01 COSM1064186 c.1117C>T p.R373W Substitution - Missense 5:149621844-149621844 + Patient_2_Relapse COSM149984 c.1388C>T p.A463V Substitution - Missense 5:149624064-149624064 + CSCC-40-T COSM4445379 c.458+3G>A p.? Unknown 5:149609698-149609698 + Gp2D COSM4628396 c.1746G>A p.L582L Substitution - coding silent 5:149628894-149628894 + YUQUEST COSM5402673 c.1902C>T p.A634A Substitution - coding silent 5:149632065-149632065 + TCGA-BR-4363-01 COSM3852665 c.190C>T p.P64S Substitution - Missense 5:149601111-149601111 + sysucc-880T COSM5463408 c.1090C>A p.R364S Substitution - Missense 5:149621817-149621817 + BN49 COSM1619828 c.550G>C p.E184Q Substitution - Missense 5:149616658-149616658 + PTC-88C COSM4159627 c.1736A>C p.Q579P Substitution - Missense 5:149628884-149628884 + TCGA-B5-A11G-01 COSM1064185 c.958T>C p.Y320H Substitution - Missense 5:149620417-149620417 + SNUH_G16_S1 COSM149984 c.1388C>T p.A463V Substitution - Missense 5:149624064-149624064 + CN-AML-CR-29-Dx COSM3761027 c.1756C>A p.P586T Substitution - Missense 5:149628904-149628904 + 587220 COSM1183530 c.905A>G p.Y302C Substitution - Missense 5:149620364-149620364 + BD242T COSM5495815 c.1318G>A p.E440K Substitution - Missense 5:149622045-149622045 + S02242 COSM5677415 c.1641C>A p.R547R Substitution - coding silent 5:149627252-149627252 + TCGA-D3-A3ML-06 COSM3612359 c.412G>A p.E138K Substitution - Missense 5:149609649-149609649 + ESCC_143 COSM5644371 c.1739C>T p.A580V Substitution - Missense 5:149628887-149628887 + PTC_435 COSM5957162 c.1657G>A p.G553R Substitution - Missense 5:149627268-149627268 + TCGA-CG-5721-01 COSM3852670 c.1454C>T p.P485L Substitution - Missense 5:149624130-149624130 + TCGA-CG-5728-01 COSM1183531 c.1640G>A p.R547H Substitution - Missense 5:149627251-149627251 + TCGA-AM-5820-01 COSM149984 c.1388C>T p.A463V Substitution - Missense 5:149624064-149624064 + TCGA-AM-5821-01 COSM3761026 c.1466C>T p.P489L Substitution - Missense 5:149627077-149627077 + TCGA-A4-7732-01 COSM3994111 c.1613A>G p.N538S Substitution - Missense 5:149627224-149627224 + TCGA-FS-A1ZA-06 COSM1435093 c.1199C>T p.S400L Substitution - Missense 5:149621926-149621926 + OSCC-GB_00030111 COSM3715138 c.896C>A p.A299D Substitution - Missense 5:149620355-149620355 + RMS66_ COSM4987858 c.445G>A p.V149I Substitution - Missense 5:149609682-149609682 + T14 COSM149983 c.322C>T p.L108L Substitution - coding silent 5:149609559-149609559 + TCGA-A8-A07R-01 COSM5834971 c.1182_1183delAT p.Y395fs*10 Deletion - Frameshift 5:149621909-149621910 + 2492721 COSM5723803 c.919G>A p.E307K Substitution - Missense 5:149620378-149620378 + Pat_16_A COSM5867815 c.454G>A p.V152M Substitution - Missense 5:149609691-149609691 + ESOSCC161T COSM1173100 c.1471C>G p.L491V Substitution - Missense 5:149627082-149627082 + sysucc-867T COSM4159628 c.1810A>G p.M604V Substitution - Missense 5:149628958-149628958 + OSCC-GB_00170111 COSM3715139 c.1479G>T p.G493G Substitution - coding silent 5:149627090-149627090 + C086 COSM5526932 c.1188G>A p.Q396Q Substitution - coding silent 5:149621915-149621915 + CSCC-44-T COSM4445380 c.459-3C>G p.? Unknown 5:149616564-149616564 + KM12 COSM3211664 c.1712C>G p.P571R Substitution - Missense 5:149628860-149628860 + Patient_2_Relapse COSM149985 c.1552A>C p.S518R Substitution - Missense 5:149627163-149627163 + 2492722 COSM5723803 c.919G>A p.E307K Substitution - Missense 5:149620378-149620378 + HCT8 COSM4635222 c.238A>G p.K80E Substitution - Missense 5:149601159-149601159 + MAVER-1 COSM1739130 c.700C>T p.R234W Substitution - Missense 5:149618217-149618217 + OSCC-GB_00920111 COSM4881655 c.1781G>T p.S594I Substitution - Missense 5:149628929-149628929 + SC_9008 COSM1064179 c.427C>T p.R143W Substitution - Missense 5:149609664-149609664 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.256133;Hs.256206 5q32

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q445P c.1334A>C 5 149001624 LUSC A - Frameshift p.Q488Hfs*15 c.1464delA 5 149003702 ESCA A T Missense p.S383C c.1147A>T 5 149001437 LUAD C A Missense p.P194H c.581C>A 5 148996252 UCEC - C Frameshift p.Q345Pfs*28 c.1033dupC 5 149001323 RCCC C G Missense p.F456L c.1368C>G 5 149003607 BRCA C G Missense p.P507R c.1520C>G 5 149006694 BLCA C T Missense p.A455V c.1364C>T 5 149003603 CM C T Missense p.P64S c.190C>T 5 148980674 STAD C T Missense p.P674S c.2020C>T 5 149011746 STAD C T Missense p.S400L c.1199C>T 5 149001489 CM C T Nonsense p.Q111* c.331C>T 5 148989131 CM C T Synonymous p.F303F c.909C>T 5 148999931 BLCA C T Synonymous p.F424F c.1272C>T 5 149001562 CM C T Synonymous p.S10S c.30C>T 5 148977362 CM G A Missense p.D271N c.811G>A 5 148998522 NSCLC G A Missense p.E138K c.412G>A 5 148989212 CM G A Missense p.E592K c.1774G>A 5 149008485 CM G A Missense p.R237H c.710G>A 5 148997790 GBM G A Missense p.R547H c.1640G>A 5 149006814 STAD G A Missense p.S572N c.1715G>A 5 149008426 LUAD G A Missense p.V153M c.457G>A 5 148989257 LUAD G A Nonsense p.W671* c.2013G>A 5 149011739 OV G T Missense p.E138D c.414G>T 5 148989214 LUAD G T Nonsense p.E307* c.919G>T 5 148999941 LUAD G T Synonymous p.L527L c.1581G>T 5 149006755 CM T C IntronicSNV . c.894+598T>C 5 148999203 CLL T C Missense p.Y320H c.958T>C 5 148999980 UCEC