Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 18 51804150 51804150 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr18:51804150G>C c.484G>C c.(484-486)Gag>Cag p.E162Q BLCA 18 51807222 51807222 + Missense_Mutation SNP G G A TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr18:51807222G>A c.745G>A c.(745-747)Gaa>Aaa p.E249K BLCA 18 51813712 51813712 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr18:51813712G>C c.1129G>C c.(1129-1131)Gag>Cag p.E377Q BLCA 18 51818253 51818253 + Nonsense_Mutation SNP C C T TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 g.chr18:51818253C>T c.1249C>T c.(1249-1251)Cga>Tga p.R417* BLCA 18 51820663 51820663 + Silent SNP A A C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr18:51820663A>C c.2049A>C c.(2047-2049)acA>acC p.T683T BLCA 18 51820801 51820801 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr18:51820801G>T c.2187G>T c.(2185-2187)aaG>aaT p.K729N BRCA 18 51797757 51797757 + Missense_Mutation SNP C C T TCGA-AO-A0JL-01A-11W-A071-09 TCGA-AO-A0JL-10A-01W-A071-09 g.chr18:51797757C>T c.143C>T c.(142-144)cCa>cTa p.P48L BRCA 18 51820754 51820754 + Missense_Mutation SNP T T G TCGA-A2-A0D3-01A-11D-A10Y-09 TCGA-A2-A0D3-10A-01D-A110-09 g.chr18:51820754T>G c.2140T>G c.(2140-2142)Tat>Gat p.Y714D CESC 18 51809299 51809299 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr18:51809299G>T c.889G>T c.(889-891)Gaa>Taa p.E297* COAD 18 51800322 51800322 + Missense_Mutation SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr18:51800322A>G c.268A>G c.(268-270)Acc>Gcc p.T90A COAD 18 51804159 51804159 + Missense_Mutation SNP C C G TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr18:51804159C>G c.493C>G c.(493-495)Cta>Gta p.L165V COAD 18 51807102 51807102 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr18:51807102C>T c.625C>T c.(625-627)Cgg>Tgg p.R209W COAD 18 51809249 51809249 + Missense_Mutation SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr18:51809249T>C c.839T>C c.(838-840)aTc>aCc p.I280T COAD 18 51809296 51809296 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr18:51809296A>G c.886A>G c.(886-888)Aaa>Gaa p.K296E COAD 18 51809298 51809298 + Silent SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr18:51809298A>G c.888A>G c.(886-888)aaA>aaG p.K296K COAD 18 51810308 51810308 + Missense_Mutation SNP A A G TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr18:51810308A>G c.992A>G c.(991-993)gAt>gGt p.D331G COAD 18 51813783 51813783 + Splice_Site SNP T T A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:51813783T>A c.e8+2 COAD 18 51820067 51820067 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:51820067A>C c.1453A>C c.(1453-1455)Aac>Cac p.N485H COAD 18 51820119 51820119 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr18:51820119C>T c.1505C>T c.(1504-1506)tCt>tTt p.S502F COAD 18 51820154 51820154 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:51820154G>T c.1540G>T c.(1540-1542)Gac>Tac p.D514Y COAD 18 51820202 51820202 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:51820202G>T c.1588G>T c.(1588-1590)Gaa>Taa p.E530* COAD 18 51820305 51820305 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:51820305C>T c.1691C>T c.(1690-1692)gCc>gTc p.A564V COAD 18 51820334 51820334 + Missense_Mutation SNP A A G TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr18:51820334A>G c.1720A>G c.(1720-1722)Aaa>Gaa p.K574E COAD 18 51820532 51820532 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:51820532G>T c.1918G>T c.(1918-1920)Gaa>Taa p.E640* COAD 18 51820779 51820779 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:51820779A>G c.2165A>G c.(2164-2166)aAg>aGg p.K722R COADREAD 18 51797787 51797787 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:51797787T>A c.173T>A c.(172-174)gTg>gAg p.V58E COADREAD 18 51800322 51800322 + Missense_Mutation SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr18:51800322A>G c.268A>G c.(268-270)Acc>Gcc p.T90A COADREAD 18 51804159 51804159 + Missense_Mutation SNP C C G TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr18:51804159C>G c.493C>G c.(493-495)Cta>Gta p.L165V COADREAD 18 51807102 51807102 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr18:51807102C>T c.625C>T c.(625-627)Cgg>Tgg p.R209W COADREAD 18 51809249 51809249 + Missense_Mutation SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr18:51809249T>C c.839T>C c.(838-840)aTc>aCc p.I280T COADREAD 18 51809296 51809296 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr18:51809296A>G c.886A>G c.(886-888)Aaa>Gaa p.K296E COADREAD 18 51809298 51809298 + Silent SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr18:51809298A>G c.888A>G c.(886-888)aaA>aaG p.K296K COADREAD 18 51810308 51810308 + Missense_Mutation SNP A A G TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr18:51810308A>G c.992A>G c.(991-993)gAt>gGt p.D331G COADREAD 18 51810308 51810308 + Missense_Mutation SNP A A G TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr18:51810308A>G c.992A>G c.(991-993)gAt>gGt p.D331G COADREAD 18 51813701 51813701 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr18:51813701G>A c.1118G>A c.(1117-1119)cGg>cAg p.R373Q COADREAD 18 51813783 51813783 + Splice_Site SNP T T A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:51813783T>A c.e8+2 COADREAD 18 51820067 51820067 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:51820067A>C c.1453A>C c.(1453-1455)Aac>Cac p.N485H COADREAD 18 51820119 51820119 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr18:51820119C>T c.1505C>T c.(1504-1506)tCt>tTt p.S502F COADREAD 18 51820154 51820154 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:51820154G>T c.1540G>T c.(1540-1542)Gac>Tac p.D514Y COADREAD 18 51820202 51820202 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:51820202G>T c.1588G>T c.(1588-1590)Gaa>Taa p.E530* COADREAD 18 51820305 51820305 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:51820305C>T c.1691C>T c.(1690-1692)gCc>gTc p.A564V COADREAD 18 51820334 51820334 + Missense_Mutation SNP A A G TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr18:51820334A>G c.1720A>G c.(1720-1722)Aaa>Gaa p.K574E COADREAD 18 51820532 51820532 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:51820532G>T c.1918G>T c.(1918-1920)Gaa>Taa p.E640* COADREAD 18 51820704 51820704 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:51820704C>A c.2090C>A c.(2089-2091)tCt>tAt p.S697Y COADREAD 18 51820779 51820779 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:51820779A>G c.2165A>G c.(2164-2166)aAg>aGg p.K722R ESCA 18 51820113 51820113 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr18:51820113G>T c.1499G>T c.(1498-1500)aGg>aTg p.R500M GBM 18 51809324 51809324 + Missense_Mutation SNP G G A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 g.chr18:51809324G>A c.914G>A c.(913-915)cGt>cAt p.R305H GBM 18 51820790 51820790 + Missense_Mutation SNP G G A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr18:51820790G>A c.2176G>A c.(2176-2178)Gca>Aca p.A726T GBMLGG 18 51809233 51809233 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:51809233C>T c.823C>T c.(823-825)Ctt>Ttt p.L275F GBMLGG 18 51809324 51809324 + Missense_Mutation SNP G G A TCGA-06-2564-01A-01D-1494-08 TCGA-06-2564-10A-01D-1494-08 g.chr18:51809324G>A c.914G>A c.(913-915)cGt>cAt p.R305H GBMLGG 18 51818404 51818404 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:51818404G>T c.1400G>T c.(1399-1401)aGt>aTt p.S467I GBMLGG 18 51820658 51820658 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:51820658G>A c.2044G>A c.(2044-2046)Gca>Aca p.A682T GBMLGG 18 51820790 51820790 + Missense_Mutation SNP G G A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr18:51820790G>A c.2176G>A c.(2176-2178)Gca>Aca p.A726T HNSC 18 51800403 51800403 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr18:51800403G>T c.349G>T c.(349-351)Gta>Tta p.V117L HNSC 18 51800403 51800403 + Missense_Mutation SNP G G T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr18:51800403G>T c.349G>T c.(349-351)Gta>Tta p.V117L HNSC 18 51818389 51818389 + Missense_Mutation SNP G G A TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr18:51818389G>A c.1385G>A c.(1384-1386)cGc>cAc p.R462H HNSC 18 51820401 51820401 + Missense_Mutation SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr18:51820401C>T c.1787C>T c.(1786-1788)tCt>tTt p.S596F KIPAN 18 51804217 51804217 + Missense_Mutation SNP A A G TCGA-BP-4347-01A-01D-1366-10 TCGA-BP-4347-11A-01D-1366-10 g.chr18:51804217A>G c.551A>G c.(550-552)aAt>aGt p.N184S KIPAN 18 51809261 51809261 + Missense_Mutation SNP G G A TCGA-CZ-5469-01A-01D-1501-10 TCGA-CZ-5469-11A-01D-1501-10 g.chr18:51809261G>A c.851G>A c.(850-852)cGt>cAt p.R284H KIPAN 18 51809374 51809374 + Frame_Shift_Del DEL G G - TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr18:51809374delG c.964delG c.(964-966)ggafs p.G322fs KIPAN 18 51820257 51820257 + Missense_Mutation SNP C C A TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr18:51820257C>A c.1643C>A c.(1642-1644)tCt>tAt p.S548Y KIPAN 18 51820612 51820612 + Silent SNP A A G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 g.chr18:51820612A>G c.1998A>G c.(1996-1998)caA>caG p.Q666Q KIRC 18 51804217 51804217 + Missense_Mutation SNP A A G TCGA-BP-4347-01A-01D-1366-10 TCGA-BP-4347-11A-01D-1366-10 g.chr18:51804217A>G c.551A>G c.(550-552)aAt>aGt p.N184S KIRC 18 51809261 51809261 + Missense_Mutation SNP G G A TCGA-CZ-5469-01A-01D-1501-10 TCGA-CZ-5469-11A-01D-1501-10 g.chr18:51809261G>A c.851G>A c.(850-852)cGt>cAt p.R284H KIRC 18 51809374 51809374 + Frame_Shift_Del DEL G G - TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr18:51809374delG c.964delG c.(964-966)ggafs p.G322fs KIRC 18 51820612 51820612 + Silent SNP A A G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 g.chr18:51820612A>G c.1998A>G c.(1996-1998)caA>caG p.Q666Q KIRP 18 51820257 51820257 + Missense_Mutation SNP C C A TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr18:51820257C>A c.1643C>A c.(1642-1644)tCt>tAt p.S548Y LGG 18 51809233 51809233 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:51809233C>T c.823C>T c.(823-825)Ctt>Ttt p.L275F LGG 18 51818404 51818404 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:51818404G>T c.1400G>T c.(1399-1401)aGt>aTt p.S467I LGG 18 51820658 51820658 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:51820658G>A c.2044G>A c.(2044-2046)Gca>Aca p.A682T LIHC 18 51807238 51807238 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr18:51807238T>C c.761T>C c.(760-762)cTt>cCt p.L254P LUAD 18 51797789 51797789 + Missense_Mutation SNP G G T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr18:51797789G>T c.175G>T c.(175-177)Gat>Tat p.D59Y LUAD 18 51813701 51813701 + Missense_Mutation SNP G G T TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr18:51813701G>T c.1118G>T c.(1117-1119)cGg>cTg p.R373L LUAD 18 51818291 51818291 + Silent SNP C C A TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr18:51818291C>A c.1287C>A c.(1285-1287)acC>acA p.T429T LUAD 18 51820115 51820115 + Nonsense_Mutation SNP G G T TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr18:51820115G>T c.1501G>T c.(1501-1503)Gag>Tag p.E501* LUSC 18 51807181 51807181 + Missense_Mutation SNP C C G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr18:51807181C>G c.704C>G c.(703-705)tCt>tGt p.S235C LUSC 18 51813728 51813728 + Missense_Mutation SNP G G T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr18:51813728G>T c.1145G>T c.(1144-1146)cGt>cTt p.R382L LUSC 18 51820157 51820157 + Missense_Mutation SNP A A G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr18:51820157A>G c.1543A>G c.(1543-1545)Att>Gtt p.I515V OV 18 51797772 51797772 + Missense_Mutation SNP G G C TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 g.chr18:51797772G>C c.158G>C c.(157-159)aGa>aCa p.R53T OV 18 51800324 51800324 + Silent SNP C C A TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 g.chr18:51800324C>A c.270C>A c.(268-270)acC>acA p.T90T OV 18 51809296 51809296 + Missense_Mutation SNP A A G TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 g.chr18:51809296A>G c.886A>G c.(886-888)Aaa>Gaa p.K296E PAAD 18 51807102 51807102 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:51807102C>T c.625C>T c.(625-627)Cgg>Tgg p.R209W PRAD 18 51807169 51807169 + Missense_Mutation SNP C C G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 g.chr18:51807169C>G c.692C>G c.(691-693)gCa>gGa p.A231G READ 18 51797787 51797787 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:51797787T>A c.173T>A c.(172-174)gTg>gAg p.V58E READ 18 51810308 51810308 + Missense_Mutation SNP A A G TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr18:51810308A>G c.992A>G c.(991-993)gAt>gGt p.D331G READ 18 51813701 51813701 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr18:51813701G>A c.1118G>A c.(1117-1119)cGg>cAg p.R373Q READ 18 51820704 51820704 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:51820704C>A c.2090C>A c.(2089-2091)tCt>tAt p.S697Y SKCM 18 51818283 51818283 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr18:51818283C>T c.1279C>T c.(1279-1281)Cac>Tac p.H427Y SKCM 18 51818291 51818291 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:51818291C>T c.1287C>T c.(1285-1287)acC>acT p.T429T SKCM 18 51820122 51820122 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 g.chr18:51820122C>T c.1508C>T c.(1507-1509)cCa>cTa p.P503L SKCM 18 51820381 51820381 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr18:51820381C>T c.1767C>T c.(1765-1767)tcC>tcT p.S589S SKCM 18 51820450 51820450 + Silent SNP T T C TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr18:51820450T>C c.1836T>C c.(1834-1836)tcT>tcC p.S612S

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 18 51804150 51804150 single base substitution G C exon_variant BLCA-US 18 51804150 51804150 single base substitution G C missense_variant E118Q 352G>C BLCA-US 18 51804150 51804150 single base substitution G C missense_variant E162Q 484G>C BLCA-US 18 51804150 51804150 single base substitution G C missense_variant E36Q 106G>C BLCA-US 18 51804150 51804150 single base substitution G C missense_variant E59Q 175G>C BLCA-US 18 51804150 51804150 single base substitution G C missense_variant E94Q 280G>C BLCA-US 18 51818253 51818253 single base substitution C T 3_prime_UTR_variant BLCA-US 18 51818253 51818253 single base substitution C T downstream_gene_variant BLCA-US 18 51818253 51818253 single base substitution C T exon_variant BLCA-US 18 51818253 51818253 single base substitution C T intron_variant BLCA-US 18 51818253 51818253 single base substitution C T stop_gained R291* 871C>T BLCA-US 18 51818253 51818253 single base substitution C T stop_gained R314* 940C>T BLCA-US 18 51818253 51818253 single base substitution C T stop_gained R338* 1012C>T BLCA-US 18 51818253 51818253 single base substitution C T stop_gained R417* 1249C>T BLCA-US 18 51851180 51851180 single base substitution G C downstream_gene_variant BOCA-UK 18 51809349 51809349 single base substitution G C downstream_gene_variant BOCA-UK 18 51809349 51809349 single base substitution G C exon_variant BOCA-UK 18 51809349 51809349 single base substitution G C missense_variant E187D 561G>C BOCA-UK 18 51809349 51809349 single base substitution G C missense_variant E210D 630G>C BOCA-UK 18 51809349 51809349 single base substitution G C missense_variant E234D 702G>C BOCA-UK 18 51809349 51809349 single base substitution G C missense_variant E24D 72G>C BOCA-UK 18 51809349 51809349 single base substitution G C missense_variant E313D 939G>C BOCA-UK 18 51809349 51809349 single base substitution G C upstream_gene_variant BRCA-EU 18 51792185 51792185 single base substitution G A upstream_gene_variant BRCA-EU 18 51792193 51792193 single base substitution A C upstream_gene_variant BRCA-EU 18 51792678 51792678 insertion of <=200bp - T upstream_gene_variant BRCA-EU 18 51793294 51793294 single base substitution C T upstream_gene_variant BRCA-EU 18 51794018 51794018 single base substitution G C upstream_gene_variant BRCA-EU 18 51794343 51794343 single base substitution G A upstream_gene_variant BRCA-EU 18 51794741 51794741 single base substitution T A upstream_gene_variant BRCA-EU 18 51795415 51795415 single base substitution C G upstream_gene_variant BRCA-EU 18 51797957 51797957 single base substitution G A intron_variant BRCA-EU 18 51797957 51797957 single base substitution G A upstream_gene_variant BRCA-EU 18 51798623 51798623 single base substitution G A intron_variant BRCA-EU 18 51798623 51798623 single base substitution G A upstream_gene_variant BRCA-EU 18 51799561 51799561 single base substitution C T intron_variant BRCA-EU 18 51799561 51799561 single base substitution C T upstream_gene_variant BRCA-EU 18 51800458 51800458 single base substitution C T missense_variant T135I 404C>T BRCA-EU 18 51800458 51800458 single base substitution C T missense_variant T32I 95C>T BRCA-EU 18 51800458 51800458 single base substitution C T missense_variant T67I 200C>T BRCA-EU 18 51800458 51800458 single base substitution C T missense_variant T91I 272C>T BRCA-EU 18 51800458 51800458 single base substitution C T splice_region_variant BRCA-EU 18 51800458 51800458 single base substitution C T upstream_gene_variant BRCA-EU 18 51802828 51802828 single base substitution T C intron_variant BRCA-EU 18 51806811 51806811 single base substitution G T intron_variant BRCA-EU 18 51806811 51806811 single base substitution G T upstream_gene_variant BRCA-EU 18 51806962 51806962 single base substitution A G intron_variant BRCA-EU 18 51806962 51806962 single base substitution A G upstream_gene_variant BRCA-EU 18 51808003 51808003 single base substitution T G downstream_gene_variant BRCA-EU 18 51808003 51808003 single base substitution T G intron_variant BRCA-EU 18 51808003 51808003 single base substitution T G upstream_gene_variant BRCA-EU 18 51808451 51808451 single base substitution T C downstream_gene_variant BRCA-EU 18 51808451 51808451 single base substitution T C intron_variant BRCA-EU 18 51808451 51808451 single base substitution T C upstream_gene_variant BRCA-EU 18 51809382 51809382 single base substitution T C downstream_gene_variant BRCA-EU 18 51809382 51809382 single base substitution T C exon_variant BRCA-EU 18 51809382 51809382 single base substitution T C synonymous_variant P198P 594T>C BRCA-EU 18 51809382 51809382 single base substitution T C synonymous_variant P221P 663T>C BRCA-EU 18 51809382 51809382 single base substitution T C synonymous_variant P245P 735T>C BRCA-EU 18 51809382 51809382 single base substitution T C synonymous_variant P324P 972T>C BRCA-EU 18 51809382 51809382 single base substitution T C synonymous_variant P35P 105T>C BRCA-EU 18 51809382 51809382 single base substitution T C upstream_gene_variant BRCA-EU 18 51814102 51814102 single base substitution A G downstream_gene_variant BRCA-EU 18 51814102 51814102 single base substitution A G intron_variant BRCA-EU 18 51814102 51814102 single base substitution A G upstream_gene_variant BRCA-EU 18 51819265 51819265 single base substitution C G intron_variant BRCA-EU 18 51820757 51820757 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 51820757 51820757 single base substitution G C downstream_gene_variant BRCA-EU 18 51820757 51820757 single base substitution G C intron_variant BRCA-EU 18 51820757 51820757 single base substitution G C missense_variant E589Q 1765G>C BRCA-EU 18 51820757 51820757 single base substitution G C missense_variant E612Q 1834G>C BRCA-EU 18 51820757 51820757 single base substitution G C missense_variant E636Q 1906G>C BRCA-EU 18 51820757 51820757 single base substitution G C missense_variant E715Q 2143G>C BRCA-EU 18 51821102 51821102 single base substitution T A 3_prime_UTR_variant BRCA-EU 18 51821102 51821102 single base substitution T A downstream_gene_variant BRCA-EU 18 51821102 51821102 single base substitution T A intron_variant BRCA-EU 18 51822039 51822039 single base substitution C G 3_prime_UTR_variant BRCA-EU 18 51822039 51822039 single base substitution C G downstream_gene_variant BRCA-EU 18 51822039 51822039 single base substitution C G intron_variant BRCA-EU 18 51822434 51822434 single base substitution A T 3_prime_UTR_variant BRCA-EU 18 51822434 51822434 single base substitution A T downstream_gene_variant BRCA-EU 18 51822434 51822434 single base substitution A T intron_variant BRCA-EU 18 51822435 51822435 single base substitution A T 3_prime_UTR_variant BRCA-EU 18 51822435 51822435 single base substitution A T downstream_gene_variant BRCA-EU 18 51822435 51822435 single base substitution A T intron_variant BRCA-EU 18 51823100 51823100 single base substitution C G 3_prime_UTR_variant BRCA-EU 18 51823100 51823100 single base substitution C G downstream_gene_variant BRCA-EU 18 51823100 51823100 single base substitution C G intron_variant BRCA-EU 18 51824154 51824154 single base substitution C A 3_prime_UTR_variant BRCA-EU 18 51824154 51824154 single base substitution C A downstream_gene_variant BRCA-EU 18 51824154 51824154 single base substitution C A intron_variant BRCA-EU 18 51826322 51826322 single base substitution C G downstream_gene_variant BRCA-EU 18 51826322 51826322 single base substitution C G intron_variant BRCA-EU 18 51828221 51828221 single base substitution A T downstream_gene_variant BRCA-EU 18 51828221 51828221 single base substitution A T intron_variant BRCA-EU 18 51829930 51829930 single base substitution C A intron_variant BRCA-EU 18 51830954 51830954 single base substitution C A intron_variant BRCA-EU 18 51832867 51832867 single base substitution T C intron_variant BRCA-EU 18 51833647 51833647 single base substitution G A intron_variant BRCA-EU 18 51836256 51836256 single base substitution G A intron_variant BRCA-EU 18 51840770 51840770 single base substitution C G intron_variant BRCA-EU 18 51841085 51841085 single base substitution T G intron_variant BRCA-EU 18 51844032 51844032 single base substitution G A intron_variant BRCA-EU 18 51844478 51844478 deletion of <=200bp T - intron_variant BRCA-EU 18 51844584 51844584 single base substitution T G intron_variant BRCA-EU 18 51844680 51844680 single base substitution C T intron_variant BRCA-EU 18 51844684 51844684 single base substitution G A intron_variant BRCA-EU 18 51846791 51846791 single base substitution C T intron_variant BRCA-EU 18 51847374 51847374 deletion of <=200bp A - intron_variant BRCA-EU 18 51848212 51848212 single base substitution G C downstream_gene_variant BRCA-EU 18 51848351 51848351 single base substitution G A downstream_gene_variant BRCA-EU 18 51849071 51849071 single base substitution T A downstream_gene_variant BRCA-EU 18 51849377 51849377 single base substitution G C downstream_gene_variant BRCA-EU 18 51852094 51852094 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 51852367 51852367 single base substitution C A downstream_gene_variant BRCA-EU 18 51852590 51852590 single base substitution G C downstream_gene_variant BRCA-FR 18 51797957 51797957 single base substitution G A intron_variant BRCA-FR 18 51797957 51797957 single base substitution G A upstream_gene_variant BRCA-FR 18 51799561 51799561 single base substitution C T intron_variant BRCA-FR 18 51799561 51799561 single base substitution C T upstream_gene_variant BRCA-FR 18 51808003 51808003 single base substitution T G downstream_gene_variant BRCA-FR 18 51808003 51808003 single base substitution T G intron_variant BRCA-FR 18 51808003 51808003 single base substitution T G upstream_gene_variant BRCA-FR 18 51814102 51814102 single base substitution A G downstream_gene_variant BRCA-FR 18 51814102 51814102 single base substitution A G intron_variant BRCA-FR 18 51814102 51814102 single base substitution A G upstream_gene_variant BRCA-FR 18 51814394 51814394 single base substitution C T downstream_gene_variant BRCA-FR 18 51814394 51814394 single base substitution C T intron_variant BRCA-FR 18 51814394 51814394 single base substitution C T upstream_gene_variant BRCA-FR 18 51819984 51819984 single base substitution G T intron_variant BRCA-FR 18 51826322 51826322 single base substitution C G downstream_gene_variant BRCA-FR 18 51826322 51826322 single base substitution C G intron_variant BRCA-FR 18 51830954 51830954 single base substitution C A intron_variant BRCA-FR 18 51841622 51841622 single base substitution C T intron_variant BRCA-FR 18 51844584 51844584 single base substitution T G intron_variant BRCA-FR 18 51845165 51845165 single base substitution C G intron_variant BRCA-UK 18 51805643 51805643 single base substitution C T intron_variant BRCA-UK 18 51805643 51805643 single base substitution C T upstream_gene_variant BRCA-UK 18 51806833 51806833 single base substitution G A intron_variant BRCA-UK 18 51806833 51806833 single base substitution G A upstream_gene_variant BRCA-UK 18 51818289 51818289 single base substitution A G 3_prime_UTR_variant BRCA-UK 18 51818289 51818289 single base substitution A G downstream_gene_variant BRCA-UK 18 51818289 51818289 single base substitution A G exon_variant BRCA-UK 18 51818289 51818289 single base substitution A G intron_variant BRCA-UK 18 51818289 51818289 single base substitution A G missense_variant T303A 907A>G BRCA-UK 18 51818289 51818289 single base substitution A G missense_variant T326A 976A>G BRCA-UK 18 51818289 51818289 single base substitution A G missense_variant T350A 1048A>G BRCA-UK 18 51818289 51818289 single base substitution A G missense_variant T429A 1285A>G BRCA-US 18 51795958 51795960 deletion of <=200bp CGA - 5_prime_UTR_variant BRCA-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD12G BRCA-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD14G BRCA-US 18 51795958 51795960 deletion of <=200bp CGA - upstream_gene_variant BRCA-US 18 51795960 51795960 single base substitution A G 5_prime_UTR_variant BRCA-US 18 51795960 51795960 single base substitution A G missense_variant D13G 38A>G BRCA-US 18 51795960 51795960 single base substitution A G missense_variant D15G 44A>G BRCA-US 18 51795960 51795960 single base substitution A G upstream_gene_variant BRCA-US 18 51797757 51797757 single base substitution C T 5_prime_UTR_variant BRCA-US 18 51797757 51797757 single base substitution C T exon_variant BRCA-US 18 51797757 51797757 single base substitution C T intron_variant BRCA-US 18 51797757 51797757 single base substitution C T missense_variant P48L 143C>T BRCA-US 18 51797757 51797757 single base substitution C T upstream_gene_variant BRCA-US 18 51820754 51820754 single base substitution T G 3_prime_UTR_variant BRCA-US 18 51820754 51820754 single base substitution T G downstream_gene_variant BRCA-US 18 51820754 51820754 single base substitution T G intron_variant BRCA-US 18 51820754 51820754 single base substitution T G missense_variant Y588D 1762T>G BRCA-US 18 51820754 51820754 single base substitution T G missense_variant Y611D 1831T>G BRCA-US 18 51820754 51820754 single base substitution T G missense_variant Y635D 1903T>G BRCA-US 18 51820754 51820754 single base substitution T G missense_variant Y714D 2140T>G BTCA-JP 18 51820072 51820072 single base substitution G C 3_prime_UTR_variant BTCA-JP 18 51820072 51820072 single base substitution G C exon_variant BTCA-JP 18 51820072 51820072 single base substitution G C intron_variant BTCA-JP 18 51820072 51820072 single base substitution G C synonymous_variant R360R 1080G>C BTCA-JP 18 51820072 51820072 single base substitution G C synonymous_variant R383R 1149G>C BTCA-JP 18 51820072 51820072 single base substitution G C synonymous_variant R407R 1221G>C BTCA-JP 18 51820072 51820072 single base substitution G C synonymous_variant R486R 1458G>C CESC-US 18 51809299 51809299 single base substitution G T downstream_gene_variant CESC-US 18 51809299 51809299 single base substitution G T exon_variant CESC-US 18 51809299 51809299 single base substitution G T stop_gained E171* 511G>T CESC-US 18 51809299 51809299 single base substitution G T stop_gained E194* 580G>T CESC-US 18 51809299 51809299 single base substitution G T stop_gained E218* 652G>T CESC-US 18 51809299 51809299 single base substitution G T stop_gained E297* 889G>T CESC-US 18 51809299 51809299 single base substitution G T stop_gained E8* 22G>T CESC-US 18 51809299 51809299 single base substitution G T upstream_gene_variant CESC-US 18 51851221 51851221 single base substitution C T downstream_gene_variant CLLE-ES 18 51795486 51795486 single base substitution T C upstream_gene_variant CLLE-ES 18 51833212 51833212 single base substitution A C intron_variant CLLE-ES 18 51844666 51844666 single base substitution G A intron_variant COAD-US 18 51795958 51795960 deletion of <=200bp CGA - 5_prime_UTR_variant COAD-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD12G COAD-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD14G COAD-US 18 51795958 51795960 deletion of <=200bp CGA - upstream_gene_variant COAD-US 18 51796003 51796003 single base substitution G A 5_prime_UTR_variant COAD-US 18 51796003 51796003 single base substitution G A exon_variant COAD-US 18 51796003 51796003 single base substitution G A synonymous_variant A27A 81G>A COAD-US 18 51796003 51796003 single base substitution G A synonymous_variant A29A 87G>A COAD-US 18 51796003 51796003 single base substitution G A upstream_gene_variant COAD-US 18 51809249 51809249 single base substitution T C downstream_gene_variant COAD-US 18 51809249 51809249 single base substitution T C exon_variant COAD-US 18 51809249 51809249 single base substitution T C missense_variant I154T 461T>C COAD-US 18 51809249 51809249 single base substitution T C missense_variant I177T 530T>C COAD-US 18 51809249 51809249 single base substitution T C missense_variant I201T 602T>C COAD-US 18 51809249 51809249 single base substitution T C missense_variant I212T 635T>C COAD-US 18 51809249 51809249 single base substitution T C missense_variant I280T 839T>C COAD-US 18 51809249 51809249 single base substitution T C upstream_gene_variant COAD-US 18 51813783 51813783 single base substitution T A downstream_gene_variant COAD-US 18 51813783 51813783 single base substitution T A exon_variant COAD-US 18 51813783 51813783 single base substitution T A splice_donor_variant COAD-US 18 51813783 51813783 single base substitution T A upstream_gene_variant COAD-US 18 51820154 51820154 single base substitution G T 3_prime_UTR_variant COAD-US 18 51820154 51820154 single base substitution G T downstream_gene_variant COAD-US 18 51820154 51820154 single base substitution G T exon_variant COAD-US 18 51820154 51820154 single base substitution G T intron_variant COAD-US 18 51820154 51820154 single base substitution G T missense_variant D388Y 1162G>T COAD-US 18 51820154 51820154 single base substitution G T missense_variant D411Y 1231G>T COAD-US 18 51820154 51820154 single base substitution G T missense_variant D435Y 1303G>T COAD-US 18 51820154 51820154 single base substitution G T missense_variant D514Y 1540G>T COAD-US 18 51820779 51820779 single base substitution A G 3_prime_UTR_variant COAD-US 18 51820779 51820779 single base substitution A G downstream_gene_variant COAD-US 18 51820779 51820779 single base substitution A G intron_variant COAD-US 18 51820779 51820779 single base substitution A G missense_variant K596R 1787A>G COAD-US 18 51820779 51820779 single base substitution A G missense_variant K619R 1856A>G COAD-US 18 51820779 51820779 single base substitution A G missense_variant K643R 1928A>G COAD-US 18 51820779 51820779 single base substitution A G missense_variant K722R 2165A>G COCA-CN 18 51797786 51797786 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 18 51797786 51797786 single base substitution G A exon_variant COCA-CN 18 51797786 51797786 single base substitution G A intron_variant COCA-CN 18 51797786 51797786 single base substitution G A missense_variant V58M 172G>A COCA-CN 18 51797786 51797786 single base substitution G A upstream_gene_variant COCA-CN 18 51797865 51797865 single base substitution G T intron_variant COCA-CN 18 51797865 51797865 single base substitution G T upstream_gene_variant COCA-CN 18 51800480 51800480 single base substitution T C intron_variant COCA-CN 18 51800480 51800480 single base substitution T C upstream_gene_variant COCA-CN 18 51804312 51804312 single base substitution G T intron_variant COCA-CN 18 51804312 51804312 single base substitution G T upstream_gene_variant COCA-CN 18 51809238 51809238 single base substitution A G downstream_gene_variant COCA-CN 18 51809238 51809238 single base substitution A G exon_variant COCA-CN 18 51809238 51809238 single base substitution A G synonymous_variant E150E 450A>G COCA-CN 18 51809238 51809238 single base substitution A G synonymous_variant E173E 519A>G COCA-CN 18 51809238 51809238 single base substitution A G synonymous_variant E197E 591A>G COCA-CN 18 51809238 51809238 single base substitution A G synonymous_variant E208E 624A>G COCA-CN 18 51809238 51809238 single base substitution A G synonymous_variant E276E 828A>G COCA-CN 18 51809238 51809238 single base substitution A G upstream_gene_variant COCA-CN 18 51818419 51818419 single base substitution T G downstream_gene_variant COCA-CN 18 51818419 51818419 single base substitution T G intron_variant COCA-CN 18 51820264 51820264 single base substitution A C 3_prime_UTR_variant COCA-CN 18 51820264 51820264 single base substitution A C downstream_gene_variant COCA-CN 18 51820264 51820264 single base substitution A C intron_variant COCA-CN 18 51820264 51820264 single base substitution A C missense_variant E424D 1272A>C COCA-CN 18 51820264 51820264 single base substitution A C missense_variant E447D 1341A>C COCA-CN 18 51820264 51820264 single base substitution A C missense_variant E471D 1413A>C COCA-CN 18 51820264 51820264 single base substitution A C missense_variant E550D 1650A>C COCA-CN 18 51820704 51820704 single base substitution C A 3_prime_UTR_variant COCA-CN 18 51820704 51820704 single base substitution C A downstream_gene_variant COCA-CN 18 51820704 51820704 single base substitution C A intron_variant COCA-CN 18 51820704 51820704 single base substitution C A missense_variant S571Y 1712C>A COCA-CN 18 51820704 51820704 single base substitution C A missense_variant S594Y 1781C>A COCA-CN 18 51820704 51820704 single base substitution C A missense_variant S618Y 1853C>A COCA-CN 18 51820704 51820704 single base substitution C A missense_variant S697Y 2090C>A EOPC-DE 18 51848498 51848498 single base substitution G A downstream_gene_variant ESAD-UK 18 51791045 51791045 single base substitution T C upstream_gene_variant ESAD-UK 18 51791154 51791154 single base substitution C T upstream_gene_variant ESAD-UK 18 51791321 51791321 insertion of <=200bp - TC upstream_gene_variant ESAD-UK 18 51791944 51791944 single base substitution G C upstream_gene_variant ESAD-UK 18 51793619 51793619 single base substitution G A upstream_gene_variant ESAD-UK 18 51795699 51795699 single base substitution C T upstream_gene_variant ESAD-UK 18 51802423 51802423 single base substitution C G intron_variant ESAD-UK 18 51803368 51803368 single base substitution T C intron_variant ESAD-UK 18 51803400 51803400 deletion of <=200bp T - intron_variant ESAD-UK 18 51803819 51803819 single base substitution G C intron_variant ESAD-UK 18 51810326 51810326 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 51810326 51810326 single base substitution C T downstream_gene_variant ESAD-UK 18 51810326 51810326 single base substitution C T exon_variant ESAD-UK 18 51810326 51810326 single base substitution C T missense_variant S211L 632C>T ESAD-UK 18 51810326 51810326 single base substitution C T missense_variant S234L 701C>T ESAD-UK 18 51810326 51810326 single base substitution C T missense_variant S258L 773C>T ESAD-UK 18 51810326 51810326 single base substitution C T missense_variant S337L 1010C>T ESAD-UK 18 51810326 51810326 single base substitution C T missense_variant S48L 143C>T ESAD-UK 18 51810326 51810326 single base substitution C T upstream_gene_variant ESAD-UK 18 51812566 51812566 single base substitution G C downstream_gene_variant ESAD-UK 18 51812566 51812566 single base substitution G C intron_variant ESAD-UK 18 51815437 51815437 single base substitution G A downstream_gene_variant ESAD-UK 18 51815437 51815437 single base substitution G A intron_variant ESAD-UK 18 51815437 51815437 single base substitution G A upstream_gene_variant ESAD-UK 18 51815720 51815720 single base substitution A C downstream_gene_variant ESAD-UK 18 51815720 51815720 single base substitution A C intron_variant ESAD-UK 18 51815720 51815720 single base substitution A C upstream_gene_variant ESAD-UK 18 51819513 51819513 single base substitution T G intron_variant ESAD-UK 18 51819566 51819566 single base substitution G T intron_variant ESAD-UK 18 51819651 51819651 single base substitution A T intron_variant ESAD-UK 18 51824622 51824622 single base substitution T G downstream_gene_variant ESAD-UK 18 51824622 51824622 single base substitution T G intron_variant ESAD-UK 18 51824738 51824738 single base substitution C T downstream_gene_variant ESAD-UK 18 51824738 51824738 single base substitution C T intron_variant ESAD-UK 18 51826281 51826281 single base substitution T G downstream_gene_variant ESAD-UK 18 51826281 51826281 single base substitution T G intron_variant ESAD-UK 18 51827666 51827666 single base substitution A G downstream_gene_variant ESAD-UK 18 51827666 51827666 single base substitution A G intron_variant ESAD-UK 18 51829625 51829625 single base substitution A C intron_variant ESAD-UK 18 51832133 51832133 single base substitution T A intron_variant ESAD-UK 18 51832976 51832976 insertion of <=200bp - ATTCTC intron_variant ESAD-UK 18 51833704 51833704 single base substitution G A intron_variant ESAD-UK 18 51834482 51834482 single base substitution G T intron_variant ESAD-UK 18 51835466 51835466 single base substitution A C intron_variant ESAD-UK 18 51836861 51836861 insertion of <=200bp - TG intron_variant ESAD-UK 18 51839151 51839151 single base substitution T C intron_variant ESAD-UK 18 51839810 51839810 deletion of <=200bp T - intron_variant ESAD-UK 18 51839810 51839810 insertion of <=200bp - T intron_variant ESAD-UK 18 51840984 51840984 single base substitution T A intron_variant ESAD-UK 18 51841997 51841997 single base substitution C T intron_variant ESAD-UK 18 51844478 51844478 deletion of <=200bp T - intron_variant ESAD-UK 18 51845934 51845934 single base substitution G C intron_variant ESAD-UK 18 51847192 51847192 single base substitution A T intron_variant ESAD-UK 18 51847885 51847888 deletion of <=200bp AGTA - downstream_gene_variant ESAD-UK 18 51848021 51848021 single base substitution A T downstream_gene_variant ESAD-UK 18 51848291 51848291 deletion of <=200bp T - downstream_gene_variant ESAD-UK 18 51850533 51850533 single base substitution A C downstream_gene_variant ESAD-UK 18 51851266 51851266 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 51851313 51851313 single base substitution T C downstream_gene_variant ESAD-UK 18 51851614 51851614 single base substitution C A downstream_gene_variant ESAD-UK 18 51851616 51851616 single base substitution C A downstream_gene_variant ESAD-UK 18 51852093 51852093 single base substitution A T downstream_gene_variant ESAD-UK 18 51852443 51852443 single base substitution T G downstream_gene_variant ESCA-CN 18 51820378 51820378 single base substitution A G 3_prime_UTR_variant ESCA-CN 18 51820378 51820378 single base substitution A G downstream_gene_variant ESCA-CN 18 51820378 51820378 single base substitution A G intron_variant ESCA-CN 18 51820378 51820378 single base substitution A G synonymous_variant L462L 1386A>G ESCA-CN 18 51820378 51820378 single base substitution A G synonymous_variant L485L 1455A>G ESCA-CN 18 51820378 51820378 single base substitution A G synonymous_variant L509L 1527A>G ESCA-CN 18 51820378 51820378 single base substitution A G synonymous_variant L588L 1764A>G GBM-US 18 51809324 51809324 single base substitution G A downstream_gene_variant GBM-US 18 51809324 51809324 single base substitution G A exon_variant GBM-US 18 51809324 51809324 single base substitution G A missense_variant R16H 47G>A GBM-US 18 51809324 51809324 single base substitution G A missense_variant R179H 536G>A GBM-US 18 51809324 51809324 single base substitution G A missense_variant R202H 605G>A GBM-US 18 51809324 51809324 single base substitution G A missense_variant R226H 677G>A GBM-US 18 51809324 51809324 single base substitution G A missense_variant R305H 914G>A GBM-US 18 51809324 51809324 single base substitution G A upstream_gene_variant GBM-US 18 51820790 51820790 single base substitution G A 3_prime_UTR_variant GBM-US 18 51820790 51820790 single base substitution G A downstream_gene_variant GBM-US 18 51820790 51820790 single base substitution G A intron_variant GBM-US 18 51820790 51820790 single base substitution G A missense_variant A600T 1798G>A GBM-US 18 51820790 51820790 single base substitution G A missense_variant A623T 1867G>A GBM-US 18 51820790 51820790 single base substitution G A missense_variant A647T 1939G>A GBM-US 18 51820790 51820790 single base substitution G A missense_variant A726T 2176G>A KIRC-US 18 51795958 51795960 deletion of <=200bp CGA - 5_prime_UTR_variant KIRC-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD12G KIRC-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD14G KIRC-US 18 51795958 51795960 deletion of <=200bp CGA - upstream_gene_variant KIRC-US 18 51804217 51804217 single base substitution A G exon_variant KIRC-US 18 51804217 51804217 single base substitution A G missense_variant N116S 347A>G KIRC-US 18 51804217 51804217 single base substitution A G missense_variant N140S 419A>G KIRC-US 18 51804217 51804217 single base substitution A G missense_variant N184S 551A>G KIRC-US 18 51804217 51804217 single base substitution A G missense_variant N58S 173A>G KIRC-US 18 51804217 51804217 single base substitution A G missense_variant N81S 242A>G KIRC-US 18 51809261 51809261 single base substitution G A downstream_gene_variant KIRC-US 18 51809261 51809261 single base substitution G A exon_variant KIRC-US 18 51809261 51809261 single base substitution G A missense_variant R158H 473G>A KIRC-US 18 51809261 51809261 single base substitution G A missense_variant R181H 542G>A KIRC-US 18 51809261 51809261 single base substitution G A missense_variant R205H 614G>A KIRC-US 18 51809261 51809261 single base substitution G A missense_variant R216H 647G>A KIRC-US 18 51809261 51809261 single base substitution G A missense_variant R284H 851G>A KIRC-US 18 51809261 51809261 single base substitution G A upstream_gene_variant KIRC-US 18 51809374 51809374 deletion of <=200bp G - downstream_gene_variant KIRC-US 18 51809374 51809374 deletion of <=200bp G - exon_variant KIRC-US 18 51809374 51809374 deletion of <=200bp G - frameshift_variant G196 KIRC-US 18 51809374 51809374 deletion of <=200bp G - frameshift_variant G219 KIRC-US 18 51809374 51809374 deletion of <=200bp G - frameshift_variant G243 KIRC-US 18 51809374 51809374 deletion of <=200bp G - frameshift_variant G322 KIRC-US 18 51809374 51809374 deletion of <=200bp G - frameshift_variant G33 KIRC-US 18 51809374 51809374 deletion of <=200bp G - upstream_gene_variant LAML-KR 18 51826386 51826386 single base substitution T A downstream_gene_variant LAML-KR 18 51826386 51826386 single base substitution T A intron_variant LAML-KR 18 51849455 51849455 single base substitution G A downstream_gene_variant LICA-FR 18 51791308 51791308 insertion of <=200bp - TG upstream_gene_variant LICA-FR 18 51797744 51797744 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 18 51797744 51797744 single base substitution G A exon_variant LICA-FR 18 51797744 51797744 single base substitution G A intron_variant LICA-FR 18 51797744 51797744 single base substitution G A missense_variant V44M 130G>A LICA-FR 18 51797744 51797744 single base substitution G A upstream_gene_variant LICA-FR 18 51804684 51804684 single base substitution A G intron_variant LICA-FR 18 51804684 51804684 single base substitution A G upstream_gene_variant LICA-FR 18 51820394 51820402 deletion of <=200bp GTATCCTCT - 3_prime_UTR_variant LICA-FR 18 51820394 51820402 deletion of <=200bp GTATCCTCT - downstream_gene_variant LICA-FR 18 51820394 51820402 deletion of <=200bp GTATCCTCT - inframe_deletion VSS468 LICA-FR 18 51820394 51820402 deletion of <=200bp GTATCCTCT - inframe_deletion VSS491 LICA-FR 18 51820394 51820402 deletion of <=200bp GTATCCTCT - inframe_deletion VSS515 LICA-FR 18 51820394 51820402 deletion of <=200bp GTATCCTCT - inframe_deletion VSS594 LICA-FR 18 51820394 51820402 deletion of <=200bp GTATCCTCT - intron_variant LICA-FR 18 51833447 51833447 single base substitution G T intron_variant LICA-FR 18 51841878 51841878 single base substitution G A intron_variant LICA-FR 18 51851064 51851064 single base substitution A G downstream_gene_variant LIHC-US 18 51851176 51851176 single base substitution T G downstream_gene_variant LINC-JP 18 51797479 51797479 single base substitution A G exon_variant LINC-JP 18 51797479 51797479 single base substitution A G intron_variant LINC-JP 18 51797479 51797479 single base substitution A G upstream_gene_variant LINC-JP 18 51807098 51807098 single base substitution G T exon_variant LINC-JP 18 51807098 51807098 single base substitution G T intron_variant LINC-JP 18 51807098 51807098 single base substitution G T missense_variant E104D 312G>T LINC-JP 18 51807098 51807098 single base substitution G T missense_variant E139D 417G>T LINC-JP 18 51807098 51807098 single base substitution G T missense_variant E163D 489G>T LINC-JP 18 51807098 51807098 single base substitution G T missense_variant E207D 621G>T LINC-JP 18 51807098 51807098 single base substitution G T missense_variant E81D 243G>T LINC-JP 18 51807098 51807098 single base substitution G T upstream_gene_variant LINC-JP 18 51808666 51808666 insertion of <=200bp - T downstream_gene_variant LINC-JP 18 51808666 51808666 insertion of <=200bp - T intron_variant LINC-JP 18 51808666 51808666 insertion of <=200bp - T upstream_gene_variant LINC-JP 18 51810357 51810357 single base substitution A G 3_prime_UTR_variant LINC-JP 18 51810357 51810357 single base substitution A G downstream_gene_variant LINC-JP 18 51810357 51810357 single base substitution A G exon_variant LINC-JP 18 51810357 51810357 single base substitution A G synonymous_variant E221E 663A>G LINC-JP 18 51810357 51810357 single base substitution A G synonymous_variant E244E 732A>G LINC-JP 18 51810357 51810357 single base substitution A G synonymous_variant E268E 804A>G LINC-JP 18 51810357 51810357 single base substitution A G synonymous_variant E347E 1041A>G LINC-JP 18 51810357 51810357 single base substitution A G synonymous_variant E58E 174A>G LINC-JP 18 51810357 51810357 single base substitution A G upstream_gene_variant LINC-JP 18 51815569 51815569 insertion of <=200bp - T downstream_gene_variant LINC-JP 18 51815569 51815569 insertion of <=200bp - T intron_variant LINC-JP 18 51815569 51815569 insertion of <=200bp - T upstream_gene_variant LINC-JP 18 51818369 51818369 single base substitution A G 3_prime_UTR_variant LINC-JP 18 51818369 51818369 single base substitution A G downstream_gene_variant LINC-JP 18 51818369 51818369 single base substitution A G exon_variant LINC-JP 18 51818369 51818369 single base substitution A G intron_variant LINC-JP 18 51818369 51818369 single base substitution A G synonymous_variant P329P 987A>G LINC-JP 18 51818369 51818369 single base substitution A G synonymous_variant P352P 1056A>G LINC-JP 18 51818369 51818369 single base substitution A G synonymous_variant P376P 1128A>G LINC-JP 18 51818369 51818369 single base substitution A G synonymous_variant P455P 1365A>G LINC-JP 18 51821186 51821186 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 18 51821186 51821186 deletion of <=200bp T - downstream_gene_variant LINC-JP 18 51821186 51821186 deletion of <=200bp T - intron_variant LINC-JP 18 51838182 51838182 single base substitution G C intron_variant LINC-JP 18 51847964 51847964 single base substitution T C downstream_gene_variant LINC-JP 18 51849747 51849747 single base substitution A G downstream_gene_variant LIRI-JP 18 51790943 51790943 single base substitution T A upstream_gene_variant LIRI-JP 18 51791030 51791030 single base substitution T C upstream_gene_variant LIRI-JP 18 51792474 51792474 single base substitution C T upstream_gene_variant LIRI-JP 18 51794491 51794491 single base substitution A T upstream_gene_variant LIRI-JP 18 51795958 51795960 deletion of <=200bp CGA - 5_prime_UTR_variant LIRI-JP 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD12G LIRI-JP 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD14G LIRI-JP 18 51795958 51795960 deletion of <=200bp CGA - upstream_gene_variant LIRI-JP 18 51799816 51799817 deletion of <=200bp TA - intron_variant LIRI-JP 18 51799816 51799817 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 18 51800003 51800003 single base substitution A G intron_variant LIRI-JP 18 51800003 51800003 single base substitution A G upstream_gene_variant LIRI-JP 18 51802080 51802080 single base substitution T A intron_variant LIRI-JP 18 51802250 51802250 single base substitution G A intron_variant LIRI-JP 18 51802788 51802788 single base substitution G A intron_variant LIRI-JP 18 51803880 51803880 single base substitution A C intron_variant LIRI-JP 18 51806591 51806591 single base substitution A G intron_variant LIRI-JP 18 51806591 51806591 single base substitution A G upstream_gene_variant LIRI-JP 18 51809151 51809151 single base substitution G A downstream_gene_variant LIRI-JP 18 51809151 51809151 single base substitution G A intron_variant LIRI-JP 18 51809151 51809151 single base substitution G A upstream_gene_variant LIRI-JP 18 51809673 51809673 single base substitution A G downstream_gene_variant LIRI-JP 18 51809673 51809673 single base substitution A G intron_variant LIRI-JP 18 51809673 51809673 single base substitution A G upstream_gene_variant LIRI-JP 18 51811479 51811479 single base substitution A T downstream_gene_variant LIRI-JP 18 51811479 51811479 single base substitution A T intron_variant LIRI-JP 18 51811996 51811996 single base substitution A G downstream_gene_variant LIRI-JP 18 51811996 51811996 single base substitution A G intron_variant LIRI-JP 18 51814435 51814435 single base substitution A G downstream_gene_variant LIRI-JP 18 51814435 51814435 single base substitution A G intron_variant LIRI-JP 18 51814435 51814435 single base substitution A G upstream_gene_variant LIRI-JP 18 51816142 51816142 single base substitution C A downstream_gene_variant LIRI-JP 18 51816142 51816142 single base substitution C A intron_variant LIRI-JP 18 51816142 51816142 single base substitution C A upstream_gene_variant LIRI-JP 18 51817036 51817036 single base substitution C T downstream_gene_variant LIRI-JP 18 51817036 51817036 single base substitution C T intron_variant LIRI-JP 18 51817036 51817036 single base substitution C T upstream_gene_variant LIRI-JP 18 51817471 51817471 single base substitution G A downstream_gene_variant LIRI-JP 18 51817471 51817471 single base substitution G A intron_variant LIRI-JP 18 51817471 51817471 single base substitution G A upstream_gene_variant LIRI-JP 18 51819788 51819788 single base substitution C G intron_variant LIRI-JP 18 51821416 51821416 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 51821416 51821416 single base substitution A G downstream_gene_variant LIRI-JP 18 51821416 51821416 single base substitution A G intron_variant LIRI-JP 18 51822692 51822692 single base substitution C T 3_prime_UTR_variant LIRI-JP 18 51822692 51822692 single base substitution C T downstream_gene_variant LIRI-JP 18 51822692 51822692 single base substitution C T intron_variant LIRI-JP 18 51823621 51823621 single base substitution T A 3_prime_UTR_variant LIRI-JP 18 51823621 51823621 single base substitution T A downstream_gene_variant LIRI-JP 18 51823621 51823621 single base substitution T A intron_variant LIRI-JP 18 51826935 51826935 single base substitution A G downstream_gene_variant LIRI-JP 18 51826935 51826935 single base substitution A G intron_variant LIRI-JP 18 51827235 51827235 single base substitution A G downstream_gene_variant LIRI-JP 18 51827235 51827235 single base substitution A G intron_variant LIRI-JP 18 51828540 51828540 single base substitution A T downstream_gene_variant LIRI-JP 18 51828540 51828540 single base substitution A T intron_variant LIRI-JP 18 51830300 51830300 single base substitution G A intron_variant LIRI-JP 18 51833623 51833623 single base substitution A G intron_variant LIRI-JP 18 51834081 51834081 single base substitution G T intron_variant LIRI-JP 18 51834082 51834082 single base substitution G T intron_variant LIRI-JP 18 51840195 51840195 single base substitution A G intron_variant LIRI-JP 18 51840436 51840436 single base substitution T G intron_variant LIRI-JP 18 51843037 51843037 single base substitution G T intron_variant LIRI-JP 18 51843879 51843879 single base substitution C T intron_variant LIRI-JP 18 51844811 51844811 single base substitution A G intron_variant LIRI-JP 18 51845978 51845978 single base substitution A G intron_variant LIRI-JP 18 51847436 51847436 single base substitution A T splice_region_variant LIRI-JP 18 51847635 51847635 single base substitution T C 3_prime_UTR_variant LIRI-JP 18 51848894 51848894 single base substitution A C downstream_gene_variant LIRI-JP 18 51850830 51850830 single base substitution A G downstream_gene_variant LIRI-JP 18 51852450 51852450 single base substitution G A downstream_gene_variant LUSC-KR 18 51791198 51791198 single base substitution G T upstream_gene_variant LUSC-KR 18 51795463 51795463 single base substitution C T upstream_gene_variant LUSC-KR 18 51797117 51797117 single base substitution A T exon_variant LUSC-KR 18 51797117 51797117 single base substitution A T intron_variant LUSC-KR 18 51797117 51797117 single base substitution A T upstream_gene_variant LUSC-KR 18 51800434 51800434 single base substitution A G exon_variant LUSC-KR 18 51800434 51800434 single base substitution A G missense_variant Y127C 380A>G LUSC-KR 18 51800434 51800434 single base substitution A G missense_variant Y24C 71A>G LUSC-KR 18 51800434 51800434 single base substitution A G missense_variant Y59C 176A>G LUSC-KR 18 51800434 51800434 single base substitution A G missense_variant Y83C 248A>G LUSC-KR 18 51800434 51800434 single base substitution A G upstream_gene_variant LUSC-KR 18 51803098 51803098 single base substitution C A intron_variant LUSC-KR 18 51814775 51814775 single base substitution G T downstream_gene_variant LUSC-KR 18 51814775 51814775 single base substitution G T intron_variant LUSC-KR 18 51814775 51814775 single base substitution G T upstream_gene_variant LUSC-KR 18 51817244 51817244 single base substitution G T downstream_gene_variant LUSC-KR 18 51817244 51817244 single base substitution G T intron_variant LUSC-KR 18 51817244 51817244 single base substitution G T upstream_gene_variant LUSC-KR 18 51817504 51817504 single base substitution G T downstream_gene_variant LUSC-KR 18 51817504 51817504 single base substitution G T intron_variant LUSC-KR 18 51817504 51817504 single base substitution G T upstream_gene_variant LUSC-KR 18 51824489 51824489 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 51824489 51824489 single base substitution A T downstream_gene_variant LUSC-KR 18 51824489 51824489 single base substitution A T intron_variant LUSC-KR 18 51827139 51827139 single base substitution A T downstream_gene_variant LUSC-KR 18 51827139 51827139 single base substitution A T intron_variant LUSC-KR 18 51827875 51827875 single base substitution G C downstream_gene_variant LUSC-KR 18 51827875 51827875 single base substitution G C intron_variant LUSC-KR 18 51830892 51830892 single base substitution C A intron_variant LUSC-KR 18 51834067 51834067 single base substitution C A intron_variant LUSC-KR 18 51838183 51838183 single base substitution C T intron_variant LUSC-KR 18 51839026 51839026 single base substitution G C intron_variant LUSC-KR 18 51842051 51842051 single base substitution A T intron_variant LUSC-KR 18 51848915 51848915 single base substitution C G downstream_gene_variant LUSC-KR 18 51849046 51849046 single base substitution G T downstream_gene_variant LUSC-KR 18 51849868 51849868 single base substitution G A downstream_gene_variant LUSC-US 18 51807181 51807181 single base substitution C G exon_variant LUSC-US 18 51807181 51807181 single base substitution C G intron_variant LUSC-US 18 51807181 51807181 single base substitution C G missense_variant S109C 326C>G LUSC-US 18 51807181 51807181 single base substitution C G missense_variant S132C 395C>G LUSC-US 18 51807181 51807181 single base substitution C G missense_variant S167C 500C>G LUSC-US 18 51807181 51807181 single base substitution C G missense_variant S191C 572C>G LUSC-US 18 51807181 51807181 single base substitution C G missense_variant S235C 704C>G LUSC-US 18 51807181 51807181 single base substitution C G upstream_gene_variant LUSC-US 18 51813728 51813728 single base substitution G T 3_prime_UTR_variant LUSC-US 18 51813728 51813728 single base substitution G T downstream_gene_variant LUSC-US 18 51813728 51813728 single base substitution G T exon_variant LUSC-US 18 51813728 51813728 single base substitution G T missense_variant R256L 767G>T LUSC-US 18 51813728 51813728 single base substitution G T missense_variant R279L 836G>T LUSC-US 18 51813728 51813728 single base substitution G T missense_variant R303L 908G>T LUSC-US 18 51813728 51813728 single base substitution G T missense_variant R382L 1145G>T LUSC-US 18 51813728 51813728 single base substitution G T missense_variant R93L 278G>T LUSC-US 18 51813728 51813728 single base substitution G T upstream_gene_variant LUSC-US 18 51820157 51820157 single base substitution A G 3_prime_UTR_variant LUSC-US 18 51820157 51820157 single base substitution A G downstream_gene_variant LUSC-US 18 51820157 51820157 single base substitution A G exon_variant LUSC-US 18 51820157 51820157 single base substitution A G intron_variant LUSC-US 18 51820157 51820157 single base substitution A G missense_variant I389V 1165A>G LUSC-US 18 51820157 51820157 single base substitution A G missense_variant I412V 1234A>G LUSC-US 18 51820157 51820157 single base substitution A G missense_variant I436V 1306A>G LUSC-US 18 51820157 51820157 single base substitution A G missense_variant I515V 1543A>G LUSC-US 18 51851222 51851222 single base substitution A G downstream_gene_variant MALY-DE 18 51794881 51794881 single base substitution T G upstream_gene_variant MALY-DE 18 51795413 51795413 single base substitution C A upstream_gene_variant MALY-DE 18 51800123 51800123 single base substitution C T intron_variant MALY-DE 18 51800123 51800123 single base substitution C T upstream_gene_variant MALY-DE 18 51806804 51806804 single base substitution C A intron_variant MALY-DE 18 51806804 51806804 single base substitution C A upstream_gene_variant MALY-DE 18 51824142 51824142 single base substitution C G 3_prime_UTR_variant MALY-DE 18 51824142 51824142 single base substitution C G downstream_gene_variant MALY-DE 18 51824142 51824142 single base substitution C G intron_variant MALY-DE 18 51825872 51825872 single base substitution T C downstream_gene_variant MALY-DE 18 51825872 51825872 single base substitution T C intron_variant MALY-DE 18 51830577 51830577 single base substitution G A intron_variant MALY-DE 18 51834973 51834973 single base substitution A G intron_variant MALY-DE 18 51839754 51839754 single base substitution A G intron_variant MALY-DE 18 51840773 51840773 single base substitution T A intron_variant MALY-DE 18 51842026 51842026 single base substitution T C intron_variant MALY-DE 18 51843917 51843917 single base substitution A G intron_variant MELA-AU 18 51790979 51790979 single base substitution C T upstream_gene_variant MELA-AU 18 51791036 51791036 single base substitution G A upstream_gene_variant MELA-AU 18 51791872 51791872 single base substitution C T upstream_gene_variant MELA-AU 18 51791969 51791969 single base substitution C T upstream_gene_variant MELA-AU 18 51792052 51792052 single base substitution A C upstream_gene_variant MELA-AU 18 51792736 51792736 single base substitution C T upstream_gene_variant MELA-AU 18 51793513 51793513 single base substitution A G upstream_gene_variant MELA-AU 18 51793820 51793820 single base substitution G A upstream_gene_variant MELA-AU 18 51793894 51793894 single base substitution A C upstream_gene_variant MELA-AU 18 51793971 51793971 single base substitution G A upstream_gene_variant MELA-AU 18 51794453 51794453 single base substitution A C upstream_gene_variant MELA-AU 18 51796003 51796003 single base substitution G A 5_prime_UTR_variant MELA-AU 18 51796003 51796003 single base substitution G A exon_variant MELA-AU 18 51796003 51796003 single base substitution G A synonymous_variant A27A 81G>A MELA-AU 18 51796003 51796003 single base substitution G A synonymous_variant A29A 87G>A MELA-AU 18 51796003 51796003 single base substitution G A upstream_gene_variant MELA-AU 18 51796880 51796880 single base substitution C T exon_variant MELA-AU 18 51796880 51796880 single base substitution C T intron_variant MELA-AU 18 51796880 51796880 single base substitution C T upstream_gene_variant MELA-AU 18 51796881 51796881 single base substitution C T exon_variant MELA-AU 18 51796881 51796881 single base substitution C T intron_variant MELA-AU 18 51796881 51796881 single base substitution C T upstream_gene_variant MELA-AU 18 51799182 51799182 single base substitution C T intron_variant MELA-AU 18 51799182 51799182 single base substitution C T upstream_gene_variant MELA-AU 18 51799757 51799757 single base substitution T A intron_variant MELA-AU 18 51799757 51799757 single base substitution T A upstream_gene_variant MELA-AU 18 51800157 51800157 single base substitution T C intron_variant MELA-AU 18 51800157 51800157 single base substitution T C upstream_gene_variant MELA-AU 18 51800602 51800602 single base substitution T A intron_variant MELA-AU 18 51800602 51800602 single base substitution T A upstream_gene_variant MELA-AU 18 51800871 51800871 single base substitution T A intron_variant MELA-AU 18 51800871 51800871 single base substitution T A upstream_gene_variant MELA-AU 18 51801216 51801216 single base substitution C T intron_variant MELA-AU 18 51801216 51801216 single base substitution C T upstream_gene_variant MELA-AU 18 51801608 51801608 single base substitution T G intron_variant MELA-AU 18 51801612 51801612 single base substitution T A intron_variant MELA-AU 18 51801862 51801862 single base substitution G A intron_variant MELA-AU 18 51802048 51802048 single base substitution G T intron_variant MELA-AU 18 51803674 51803674 single base substitution T G intron_variant MELA-AU 18 51803868 51803868 single base substitution A C intron_variant MELA-AU 18 51804849 51804849 single base substitution G A intron_variant MELA-AU 18 51804849 51804849 single base substitution G A upstream_gene_variant MELA-AU 18 51804895 51804895 single base substitution C T intron_variant MELA-AU 18 51804895 51804895 single base substitution C T upstream_gene_variant MELA-AU 18 51805433 51805434 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 51805433 51805434 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 51806359 51806359 single base substitution C A intron_variant MELA-AU 18 51806359 51806359 single base substitution C A upstream_gene_variant MELA-AU 18 51806827 51806827 single base substitution C T intron_variant MELA-AU 18 51806827 51806827 single base substitution C T upstream_gene_variant MELA-AU 18 51807755 51807755 single base substitution C T downstream_gene_variant MELA-AU 18 51807755 51807755 single base substitution C T intron_variant MELA-AU 18 51807755 51807755 single base substitution C T upstream_gene_variant MELA-AU 18 51807829 51807829 single base substitution C T downstream_gene_variant MELA-AU 18 51807829 51807829 single base substitution C T intron_variant MELA-AU 18 51807829 51807829 single base substitution C T upstream_gene_variant MELA-AU 18 51807844 51807844 single base substitution G A downstream_gene_variant MELA-AU 18 51807844 51807844 single base substitution G A intron_variant MELA-AU 18 51807844 51807844 single base substitution G A upstream_gene_variant MELA-AU 18 51808322 51808322 single base substitution T A downstream_gene_variant MELA-AU 18 51808322 51808322 single base substitution T A intron_variant MELA-AU 18 51808322 51808322 single base substitution T A upstream_gene_variant MELA-AU 18 51808346 51808346 deletion of <=200bp A - downstream_gene_variant MELA-AU 18 51808346 51808346 deletion of <=200bp A - intron_variant MELA-AU 18 51808346 51808346 deletion of <=200bp A - upstream_gene_variant MELA-AU 18 51808493 51808493 single base substitution G A downstream_gene_variant MELA-AU 18 51808493 51808493 single base substitution G A intron_variant MELA-AU 18 51808493 51808493 single base substitution G A upstream_gene_variant MELA-AU 18 51808722 51808722 single base substitution C T downstream_gene_variant MELA-AU 18 51808722 51808722 single base substitution C T intron_variant MELA-AU 18 51808722 51808722 single base substitution C T upstream_gene_variant MELA-AU 18 51809118 51809118 single base substitution G A downstream_gene_variant MELA-AU 18 51809118 51809118 single base substitution G A intron_variant MELA-AU 18 51809118 51809118 single base substitution G A upstream_gene_variant MELA-AU 18 51809203 51809203 single base substitution T G downstream_gene_variant MELA-AU 18 51809203 51809203 single base substitution T G intron_variant MELA-AU 18 51809203 51809203 single base substitution T G splice_region_variant MELA-AU 18 51809203 51809203 single base substitution T G upstream_gene_variant MELA-AU 18 51809269 51809269 single base substitution C T downstream_gene_variant MELA-AU 18 51809269 51809269 single base substitution C T exon_variant MELA-AU 18 51809269 51809269 single base substitution C T stop_gained Q161* 481C>T MELA-AU 18 51809269 51809269 single base substitution C T stop_gained Q184* 550C>T MELA-AU 18 51809269 51809269 single base substitution C T stop_gained Q208* 622C>T MELA-AU 18 51809269 51809269 single base substitution C T stop_gained Q219* 655C>T MELA-AU 18 51809269 51809269 single base substitution C T stop_gained Q287* 859C>T MELA-AU 18 51809269 51809269 single base substitution C T upstream_gene_variant MELA-AU 18 51810461 51810461 single base substitution C T downstream_gene_variant MELA-AU 18 51810461 51810461 single base substitution C T intron_variant MELA-AU 18 51810461 51810461 single base substitution C T upstream_gene_variant MELA-AU 18 51810830 51810830 single base substitution A T downstream_gene_variant MELA-AU 18 51810830 51810830 single base substitution A T intron_variant MELA-AU 18 51810830 51810830 single base substitution A T upstream_gene_variant MELA-AU 18 51811410 51811410 single base substitution T C downstream_gene_variant MELA-AU 18 51811410 51811410 single base substitution T C intron_variant MELA-AU 18 51812478 51812478 single base substitution C T downstream_gene_variant MELA-AU 18 51812478 51812478 single base substitution C T intron_variant MELA-AU 18 51812526 51812526 single base substitution G A downstream_gene_variant MELA-AU 18 51812526 51812526 single base substitution G A intron_variant MELA-AU 18 51812822 51812822 single base substitution A C downstream_gene_variant MELA-AU 18 51812822 51812822 single base substitution A C intron_variant MELA-AU 18 51812822 51812822 single base substitution A C upstream_gene_variant MELA-AU 18 51813005 51813005 single base substitution C T downstream_gene_variant MELA-AU 18 51813005 51813005 single base substitution C T intron_variant MELA-AU 18 51813005 51813005 single base substitution C T upstream_gene_variant MELA-AU 18 51813446 51813446 single base substitution C A downstream_gene_variant MELA-AU 18 51813446 51813446 single base substitution C A intron_variant MELA-AU 18 51813446 51813446 single base substitution C A upstream_gene_variant MELA-AU 18 51813622 51813622 single base substitution C G downstream_gene_variant MELA-AU 18 51813622 51813622 single base substitution C G intron_variant MELA-AU 18 51813622 51813622 single base substitution C G upstream_gene_variant MELA-AU 18 51814187 51814187 single base substitution G T downstream_gene_variant MELA-AU 18 51814187 51814187 single base substitution G T intron_variant MELA-AU 18 51814187 51814187 single base substitution G T upstream_gene_variant MELA-AU 18 51814537 51814537 single base substitution C T downstream_gene_variant MELA-AU 18 51814537 51814537 single base substitution C T intron_variant MELA-AU 18 51814537 51814537 single base substitution C T upstream_gene_variant MELA-AU 18 51814545 51814545 single base substitution C T downstream_gene_variant MELA-AU 18 51814545 51814545 single base substitution C T intron_variant MELA-AU 18 51814545 51814545 single base substitution C T upstream_gene_variant MELA-AU 18 51814789 51814789 single base substitution T G downstream_gene_variant MELA-AU 18 51814789 51814789 single base substitution T G intron_variant MELA-AU 18 51814789 51814789 single base substitution T G upstream_gene_variant MELA-AU 18 51814822 51814822 single base substitution C T downstream_gene_variant MELA-AU 18 51814822 51814822 single base substitution C T intron_variant MELA-AU 18 51814822 51814822 single base substitution C T upstream_gene_variant MELA-AU 18 51815234 51815234 single base substitution T C downstream_gene_variant MELA-AU 18 51815234 51815234 single base substitution T C intron_variant MELA-AU 18 51815234 51815234 single base substitution T C upstream_gene_variant MELA-AU 18 51815364 51815364 single base substitution C T downstream_gene_variant MELA-AU 18 51815364 51815364 single base substitution C T intron_variant MELA-AU 18 51815364 51815364 single base substitution C T upstream_gene_variant MELA-AU 18 51815467 51815467 single base substitution C T downstream_gene_variant MELA-AU 18 51815467 51815467 single base substitution C T intron_variant MELA-AU 18 51815467 51815467 single base substitution C T upstream_gene_variant MELA-AU 18 51815790 51815790 single base substitution T A downstream_gene_variant MELA-AU 18 51815790 51815790 single base substitution T A intron_variant MELA-AU 18 51815790 51815790 single base substitution T A upstream_gene_variant MELA-AU 18 51815875 51815875 single base substitution A G downstream_gene_variant MELA-AU 18 51815875 51815875 single base substitution A G intron_variant MELA-AU 18 51815875 51815875 single base substitution A G upstream_gene_variant MELA-AU 18 51815877 51815878 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 51815877 51815878 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 51815877 51815878 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 51815968 51815968 single base substitution C T downstream_gene_variant MELA-AU 18 51815968 51815968 single base substitution C T intron_variant MELA-AU 18 51815968 51815968 single base substitution C T upstream_gene_variant MELA-AU 18 51816167 51816167 single base substitution C T downstream_gene_variant MELA-AU 18 51816167 51816167 single base substitution C T intron_variant MELA-AU 18 51816167 51816167 single base substitution C T upstream_gene_variant MELA-AU 18 51816245 51816245 single base substitution C T downstream_gene_variant MELA-AU 18 51816245 51816245 single base substitution C T intron_variant MELA-AU 18 51816245 51816245 single base substitution C T upstream_gene_variant MELA-AU 18 51816621 51816621 single base substitution G A downstream_gene_variant MELA-AU 18 51816621 51816621 single base substitution G A intron_variant MELA-AU 18 51816621 51816621 single base substitution G A upstream_gene_variant MELA-AU 18 51817337 51817337 single base substitution A G downstream_gene_variant MELA-AU 18 51817337 51817337 single base substitution A G intron_variant MELA-AU 18 51817337 51817337 single base substitution A G upstream_gene_variant MELA-AU 18 51817369 51817369 single base substitution C T downstream_gene_variant MELA-AU 18 51817369 51817369 single base substitution C T intron_variant MELA-AU 18 51817369 51817369 single base substitution C T upstream_gene_variant MELA-AU 18 51817413 51817413 single base substitution C T downstream_gene_variant MELA-AU 18 51817413 51817413 single base substitution C T intron_variant MELA-AU 18 51817413 51817413 single base substitution C T upstream_gene_variant MELA-AU 18 51817738 51817738 single base substitution C T downstream_gene_variant MELA-AU 18 51817738 51817738 single base substitution C T exon_variant MELA-AU 18 51817738 51817738 single base substitution C T intron_variant MELA-AU 18 51818657 51818657 single base substitution G A downstream_gene_variant MELA-AU 18 51818657 51818657 single base substitution G A intron_variant MELA-AU 18 51818727 51818727 single base substitution A T downstream_gene_variant MELA-AU 18 51818727 51818727 single base substitution A T intron_variant MELA-AU 18 51818988 51818988 single base substitution G T downstream_gene_variant MELA-AU 18 51818988 51818988 single base substitution G T intron_variant MELA-AU 18 51819161 51819161 single base substitution C T intron_variant MELA-AU 18 51819899 51819899 single base substitution G A intron_variant MELA-AU 18 51820885 51820885 single base substitution C T 3_prime_UTR_variant MELA-AU 18 51820885 51820885 single base substitution C T downstream_gene_variant MELA-AU 18 51820885 51820885 single base substitution C T intron_variant MELA-AU 18 51822005 51822005 single base substitution T G 3_prime_UTR_variant MELA-AU 18 51822005 51822005 single base substitution T G downstream_gene_variant MELA-AU 18 51822005 51822005 single base substitution T G intron_variant MELA-AU 18 51823026 51823026 single base substitution C T 3_prime_UTR_variant MELA-AU 18 51823026 51823026 single base substitution C T downstream_gene_variant MELA-AU 18 51823026 51823026 single base substitution C T intron_variant MELA-AU 18 51823322 51823322 single base substitution C T 3_prime_UTR_variant MELA-AU 18 51823322 51823322 single base substitution C T downstream_gene_variant MELA-AU 18 51823322 51823322 single base substitution C T intron_variant MELA-AU 18 51823488 51823488 single base substitution C T 3_prime_UTR_variant MELA-AU 18 51823488 51823488 single base substitution C T downstream_gene_variant MELA-AU 18 51823488 51823488 single base substitution C T intron_variant MELA-AU 18 51823662 51823662 single base substitution T C 3_prime_UTR_variant MELA-AU 18 51823662 51823662 single base substitution T C downstream_gene_variant MELA-AU 18 51823662 51823662 single base substitution T C intron_variant MELA-AU 18 51823823 51823823 single base substitution C T 3_prime_UTR_variant MELA-AU 18 51823823 51823823 single base substitution C T downstream_gene_variant MELA-AU 18 51823823 51823823 single base substitution C T intron_variant MELA-AU 18 51824031 51824031 single base substitution C T 3_prime_UTR_variant MELA-AU 18 51824031 51824031 single base substitution C T downstream_gene_variant MELA-AU 18 51824031 51824031 single base substitution C T intron_variant MELA-AU 18 51824032 51824032 single base substitution C T 3_prime_UTR_variant MELA-AU 18 51824032 51824032 single base substitution C T downstream_gene_variant MELA-AU 18 51824032 51824032 single base substitution C T intron_variant MELA-AU 18 51824365 51824365 single base substitution T C 3_prime_UTR_variant MELA-AU 18 51824365 51824365 single base substitution T C downstream_gene_variant MELA-AU 18 51824365 51824365 single base substitution T C intron_variant MELA-AU 18 51824541 51824541 single base substitution T C 3_prime_UTR_variant MELA-AU 18 51824541 51824541 single base substitution T C downstream_gene_variant MELA-AU 18 51824541 51824541 single base substitution T C intron_variant MELA-AU 18 51824695 51824695 single base substitution C T downstream_gene_variant MELA-AU 18 51824695 51824695 single base substitution C T intron_variant MELA-AU 18 51824892 51824892 single base substitution C T downstream_gene_variant MELA-AU 18 51824892 51824892 single base substitution C T intron_variant MELA-AU 18 51825051 51825051 single base substitution C T downstream_gene_variant MELA-AU 18 51825051 51825051 single base substitution C T intron_variant MELA-AU 18 51825157 51825157 single base substitution C T downstream_gene_variant MELA-AU 18 51825157 51825157 single base substitution C T intron_variant MELA-AU 18 51825192 51825192 single base substitution C T downstream_gene_variant MELA-AU 18 51825192 51825192 single base substitution C T intron_variant MELA-AU 18 51826892 51826892 single base substitution C T downstream_gene_variant MELA-AU 18 51826892 51826892 single base substitution C T intron_variant MELA-AU 18 51827088 51827088 single base substitution A G downstream_gene_variant MELA-AU 18 51827088 51827088 single base substitution A G intron_variant MELA-AU 18 51827212 51827212 single base substitution G A downstream_gene_variant MELA-AU 18 51827212 51827212 single base substitution G A intron_variant MELA-AU 18 51827336 51827336 single base substitution A T downstream_gene_variant MELA-AU 18 51827336 51827336 single base substitution A T intron_variant MELA-AU 18 51827832 51827832 single base substitution T C downstream_gene_variant MELA-AU 18 51827832 51827832 single base substitution T C intron_variant MELA-AU 18 51828028 51828028 single base substitution G A downstream_gene_variant MELA-AU 18 51828028 51828028 single base substitution G A intron_variant MELA-AU 18 51828114 51828114 single base substitution C T downstream_gene_variant MELA-AU 18 51828114 51828114 single base substitution C T intron_variant MELA-AU 18 51828693 51828693 single base substitution C T downstream_gene_variant MELA-AU 18 51828693 51828693 single base substitution C T intron_variant MELA-AU 18 51829342 51829342 single base substitution C T downstream_gene_variant MELA-AU 18 51829342 51829342 single base substitution C T intron_variant MELA-AU 18 51829590 51829590 single base substitution C T downstream_gene_variant MELA-AU 18 51829590 51829590 single base substitution C T intron_variant MELA-AU 18 51829599 51829599 single base substitution C T downstream_gene_variant MELA-AU 18 51829599 51829599 single base substitution C T intron_variant MELA-AU 18 51829825 51829825 single base substitution T A intron_variant MELA-AU 18 51830319 51830319 single base substitution C T intron_variant MELA-AU 18 51830707 51830707 single base substitution C T intron_variant MELA-AU 18 51831456 51831456 single base substitution A G intron_variant MELA-AU 18 51831862 51831862 single base substitution T A intron_variant MELA-AU 18 51831864 51831864 single base substitution C T intron_variant MELA-AU 18 51832123 51832123 single base substitution C T intron_variant MELA-AU 18 51832385 51832385 single base substitution C T intron_variant MELA-AU 18 51832442 51832442 single base substitution C T intron_variant MELA-AU 18 51832510 51832510 single base substitution C T intron_variant MELA-AU 18 51832627 51832627 single base substitution C T intron_variant MELA-AU 18 51833052 51833052 single base substitution C T intron_variant MELA-AU 18 51833124 51833124 single base substitution C T intron_variant MELA-AU 18 51833157 51833157 single base substitution C T intron_variant MELA-AU 18 51833205 51833205 single base substitution C T intron_variant MELA-AU 18 51833421 51833421 single base substitution C T intron_variant MELA-AU 18 51833482 51833482 single base substitution T A intron_variant MELA-AU 18 51833574 51833574 single base substitution C T intron_variant MELA-AU 18 51833611 51833611 single base substitution C T intron_variant MELA-AU 18 51833657 51833658 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant MELA-AU 18 51833835 51833835 single base substitution C T intron_variant MELA-AU 18 51834011 51834011 single base substitution T G intron_variant MELA-AU 18 51834069 51834069 single base substitution T A intron_variant MELA-AU 18 51834213 51834213 single base substitution C T intron_variant MELA-AU 18 51834290 51834290 single base substitution C T intron_variant MELA-AU 18 51834314 51834314 single base substitution C T intron_variant MELA-AU 18 51834405 51834405 single base substitution C T intron_variant MELA-AU 18 51834539 51834539 single base substitution C T intron_variant MELA-AU 18 51834698 51834698 single base substitution C T intron_variant MELA-AU 18 51834854 51834854 single base substitution A G intron_variant MELA-AU 18 51834891 51834891 single base substitution C T intron_variant MELA-AU 18 51834892 51834892 single base substitution C T intron_variant MELA-AU 18 51834936 51834936 single base substitution T C intron_variant MELA-AU 18 51835221 51835221 single base substitution C T intron_variant MELA-AU 18 51835298 51835298 single base substitution C T intron_variant MELA-AU 18 51835364 51835364 single base substitution C T intron_variant MELA-AU 18 51835403 51835403 single base substitution C T intron_variant MELA-AU 18 51835461 51835461 single base substitution G T intron_variant MELA-AU 18 51835561 51835561 single base substitution C T intron_variant MELA-AU 18 51835571 51835571 single base substitution T A intron_variant MELA-AU 18 51835575 51835575 single base substitution C T intron_variant MELA-AU 18 51835616 51835616 single base substitution C T intron_variant MELA-AU 18 51835711 51835711 single base substitution C T intron_variant MELA-AU 18 51836048 51836048 single base substitution C T intron_variant MELA-AU 18 51836165 51836166 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 51836196 51836196 single base substitution C T intron_variant MELA-AU 18 51836347 51836347 single base substitution C T intron_variant MELA-AU 18 51836370 51836370 single base substitution C T intron_variant MELA-AU 18 51836387 51836387 single base substitution G A intron_variant MELA-AU 18 51836423 51836423 single base substitution G A intron_variant MELA-AU 18 51836712 51836712 single base substitution G A intron_variant MELA-AU 18 51836830 51836830 single base substitution C T intron_variant MELA-AU 18 51836886 51836886 single base substitution C T intron_variant MELA-AU 18 51837338 51837338 single base substitution G A intron_variant MELA-AU 18 51837708 51837708 insertion of <=200bp - AAT intron_variant MELA-AU 18 51837762 51837762 single base substitution G A intron_variant MELA-AU 18 51838129 51838129 single base substitution C A intron_variant MELA-AU 18 51838247 51838247 single base substitution G T intron_variant MELA-AU 18 51838419 51838419 single base substitution C T intron_variant MELA-AU 18 51838526 51838526 single base substitution C T intron_variant MELA-AU 18 51838561 51838561 single base substitution G A intron_variant MELA-AU 18 51838712 51838712 single base substitution C T intron_variant MELA-AU 18 51838823 51838823 single base substitution C T intron_variant MELA-AU 18 51838990 51838990 single base substitution T G intron_variant MELA-AU 18 51839065 51839065 single base substitution C T intron_variant MELA-AU 18 51839201 51839201 single base substitution C T intron_variant MELA-AU 18 51839253 51839253 single base substitution T A intron_variant MELA-AU 18 51839352 51839352 single base substitution T A intron_variant MELA-AU 18 51839414 51839414 single base substitution G T intron_variant MELA-AU 18 51839421 51839421 single base substitution C T intron_variant MELA-AU 18 51839712 51839712 single base substitution C T intron_variant MELA-AU 18 51839857 51839857 single base substitution G A intron_variant MELA-AU 18 51839997 51839997 single base substitution C T intron_variant MELA-AU 18 51840059 51840059 single base substitution C T intron_variant MELA-AU 18 51840060 51840060 single base substitution C T intron_variant MELA-AU 18 51840285 51840285 single base substitution C T intron_variant MELA-AU 18 51840716 51840716 single base substitution T C intron_variant MELA-AU 18 51840862 51840862 single base substitution G A intron_variant MELA-AU 18 51841254 51841254 single base substitution C T intron_variant MELA-AU 18 51841443 51841443 single base substitution C T intron_variant MELA-AU 18 51841601 51841601 single base substitution C T intron_variant MELA-AU 18 51841725 51841725 single base substitution C T intron_variant MELA-AU 18 51841957 51841957 single base substitution T C intron_variant MELA-AU 18 51842079 51842079 single base substitution C T intron_variant MELA-AU 18 51842144 51842144 single base substitution C T intron_variant MELA-AU 18 51842290 51842290 single base substitution C A intron_variant MELA-AU 18 51842642 51842642 single base substitution G A intron_variant MELA-AU 18 51842808 51842808 single base substitution T C intron_variant MELA-AU 18 51842894 51842894 insertion of <=200bp - T intron_variant MELA-AU 18 51843157 51843157 single base substitution A G intron_variant MELA-AU 18 51843396 51843396 single base substitution C T intron_variant MELA-AU 18 51843515 51843515 single base substitution C T intron_variant MELA-AU 18 51844118 51844118 single base substitution C T intron_variant MELA-AU 18 51844146 51844146 single base substitution G A intron_variant MELA-AU 18 51844776 51844776 single base substitution C T intron_variant MELA-AU 18 51844832 51844832 single base substitution T A intron_variant MELA-AU 18 51845303 51845303 single base substitution C T intron_variant MELA-AU 18 51845330 51845330 single base substitution C T intron_variant MELA-AU 18 51846227 51846227 single base substitution C T intron_variant MELA-AU 18 51846280 51846280 single base substitution T A intron_variant MELA-AU 18 51846502 51846502 single base substitution A C intron_variant MELA-AU 18 51846615 51846615 single base substitution C T intron_variant MELA-AU 18 51846647 51846648 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained LQ112L* MELA-AU 18 51847196 51847196 single base substitution T C intron_variant MELA-AU 18 51847602 51847602 single base substitution G A 3_prime_UTR_variant MELA-AU 18 51847646 51847646 single base substitution C T downstream_gene_variant MELA-AU 18 51847713 51847713 single base substitution T C downstream_gene_variant MELA-AU 18 51847954 51847954 single base substitution C T downstream_gene_variant MELA-AU 18 51848020 51848020 single base substitution T C downstream_gene_variant MELA-AU 18 51848056 51848056 single base substitution G A downstream_gene_variant MELA-AU 18 51848095 51848095 single base substitution C T downstream_gene_variant MELA-AU 18 51848386 51848386 single base substitution G A downstream_gene_variant MELA-AU 18 51848658 51848658 single base substitution C T downstream_gene_variant MELA-AU 18 51848941 51848941 single base substitution G A downstream_gene_variant MELA-AU 18 51849042 51849042 single base substitution C T downstream_gene_variant MELA-AU 18 51849196 51849196 single base substitution G A downstream_gene_variant MELA-AU 18 51849236 51849236 single base substitution A C downstream_gene_variant MELA-AU 18 51849297 51849297 single base substitution C T downstream_gene_variant MELA-AU 18 51849337 51849337 single base substitution G A downstream_gene_variant MELA-AU 18 51849713 51849713 single base substitution C T downstream_gene_variant MELA-AU 18 51849935 51849935 single base substitution G A downstream_gene_variant MELA-AU 18 51850162 51850162 single base substitution G A downstream_gene_variant MELA-AU 18 51850192 51850192 single base substitution C T downstream_gene_variant MELA-AU 18 51850359 51850359 single base substitution C T downstream_gene_variant MELA-AU 18 51850407 51850407 single base substitution G A downstream_gene_variant MELA-AU 18 51850587 51850587 single base substitution G A downstream_gene_variant MELA-AU 18 51850679 51850679 single base substitution C T downstream_gene_variant MELA-AU 18 51850792 51850792 single base substitution G A downstream_gene_variant MELA-AU 18 51851053 51851053 single base substitution C T downstream_gene_variant MELA-AU 18 51851082 51851082 single base substitution G A downstream_gene_variant MELA-AU 18 51851088 51851088 single base substitution C T downstream_gene_variant MELA-AU 18 51851113 51851113 single base substitution C T downstream_gene_variant MELA-AU 18 51851316 51851316 single base substitution G A downstream_gene_variant MELA-AU 18 51851424 51851424 single base substitution C T downstream_gene_variant MELA-AU 18 51851505 51851505 single base substitution C T downstream_gene_variant MELA-AU 18 51851524 51851524 single base substitution C T downstream_gene_variant MELA-AU 18 51851596 51851596 single base substitution G A downstream_gene_variant MELA-AU 18 51851958 51851958 single base substitution C T downstream_gene_variant MELA-AU 18 51852003 51852003 single base substitution G A downstream_gene_variant MELA-AU 18 51852158 51852158 single base substitution G A downstream_gene_variant MELA-AU 18 51852387 51852387 single base substitution C T downstream_gene_variant MELA-AU 18 51852392 51852392 single base substitution C T downstream_gene_variant MELA-AU 18 51852488 51852488 single base substitution C T downstream_gene_variant ORCA-IN 18 51807234 51807234 single base substitution C A downstream_gene_variant ORCA-IN 18 51807234 51807234 single base substitution C A exon_variant ORCA-IN 18 51807234 51807234 single base substitution C A intron_variant ORCA-IN 18 51807234 51807234 single base substitution C A missense_variant H127N 379C>A ORCA-IN 18 51807234 51807234 single base substitution C A missense_variant H150N 448C>A ORCA-IN 18 51807234 51807234 single base substitution C A missense_variant H185N 553C>A ORCA-IN 18 51807234 51807234 single base substitution C A missense_variant H253N 757C>A ORCA-IN 18 51807234 51807234 single base substitution C A upstream_gene_variant ORCA-IN 18 51824805 51824805 single base substitution C G downstream_gene_variant ORCA-IN 18 51824805 51824805 single base substitution C G intron_variant ORCA-IN 18 51835595 51835595 single base substitution C G intron_variant ORCA-IN 18 51843427 51843427 single base substitution G C intron_variant OV-AU 18 51792114 51792114 single base substitution C G upstream_gene_variant OV-AU 18 51792399 51792399 single base substitution C T upstream_gene_variant OV-AU 18 51794998 51794998 single base substitution A T upstream_gene_variant OV-AU 18 51798629 51798629 single base substitution A C intron_variant OV-AU 18 51798629 51798629 single base substitution A C upstream_gene_variant OV-AU 18 51798991 51798991 single base substitution G A intron_variant OV-AU 18 51798991 51798991 single base substitution G A upstream_gene_variant OV-AU 18 51809237 51809237 single base substitution A T downstream_gene_variant OV-AU 18 51809237 51809237 single base substitution A T exon_variant OV-AU 18 51809237 51809237 single base substitution A T missense_variant E150V 449A>T OV-AU 18 51809237 51809237 single base substitution A T missense_variant E173V 518A>T OV-AU 18 51809237 51809237 single base substitution A T missense_variant E197V 590A>T OV-AU 18 51809237 51809237 single base substitution A T missense_variant E208V 623A>T OV-AU 18 51809237 51809237 single base substitution A T missense_variant E276V 827A>T OV-AU 18 51809237 51809237 single base substitution A T upstream_gene_variant OV-AU 18 51809402 51809402 single base substitution A C downstream_gene_variant OV-AU 18 51809402 51809402 single base substitution A C intron_variant OV-AU 18 51809402 51809402 single base substitution A C upstream_gene_variant OV-AU 18 51810812 51810812 single base substitution A G downstream_gene_variant OV-AU 18 51810812 51810812 single base substitution A G intron_variant OV-AU 18 51810812 51810812 single base substitution A G upstream_gene_variant OV-AU 18 51834079 51834079 single base substitution G A intron_variant OV-AU 18 51839884 51839884 single base substitution A G intron_variant OV-AU 18 51850960 51850960 single base substitution A G downstream_gene_variant OV-US 18 51851219 51851219 single base substitution A G downstream_gene_variant PACA-AU 18 51791939 51791939 single base substitution C T upstream_gene_variant PACA-AU 18 51795958 51795960 deletion of <=200bp CGA - 5_prime_UTR_variant PACA-AU 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD12G PACA-AU 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD14G PACA-AU 18 51795958 51795960 deletion of <=200bp CGA - upstream_gene_variant PACA-AU 18 51801783 51801783 single base substitution G T intron_variant PACA-AU 18 51815777 51815777 single base substitution G A downstream_gene_variant PACA-AU 18 51815777 51815777 single base substitution G A intron_variant PACA-AU 18 51815777 51815777 single base substitution G A upstream_gene_variant PACA-AU 18 51827705 51827705 single base substitution C A downstream_gene_variant PACA-AU 18 51827705 51827705 single base substitution C A intron_variant PACA-AU 18 51844524 51844524 single base substitution A T intron_variant PACA-AU 18 51849412 51849412 single base substitution C T downstream_gene_variant PACA-CA 18 51801646 51801646 single base substitution G A intron_variant PACA-CA 18 51802717 51802717 single base substitution G C intron_variant PACA-CA 18 51811231 51811231 single base substitution T C downstream_gene_variant PACA-CA 18 51811231 51811231 single base substitution T C intron_variant PACA-CA 18 51813390 51813390 single base substitution T C downstream_gene_variant PACA-CA 18 51813390 51813390 single base substitution T C intron_variant PACA-CA 18 51813390 51813390 single base substitution T C upstream_gene_variant PACA-CA 18 51813446 51813446 single base substitution C G downstream_gene_variant PACA-CA 18 51813446 51813446 single base substitution C G intron_variant PACA-CA 18 51813446 51813446 single base substitution C G upstream_gene_variant PACA-CA 18 51813697 51813697 single base substitution C T 3_prime_UTR_variant PACA-CA 18 51813697 51813697 single base substitution C T downstream_gene_variant PACA-CA 18 51813697 51813697 single base substitution C T exon_variant PACA-CA 18 51813697 51813697 single base substitution C T missense_variant R246C 736C>T PACA-CA 18 51813697 51813697 single base substitution C T missense_variant R269C 805C>T PACA-CA 18 51813697 51813697 single base substitution C T missense_variant R293C 877C>T PACA-CA 18 51813697 51813697 single base substitution C T missense_variant R372C 1114C>T PACA-CA 18 51813697 51813697 single base substitution C T missense_variant R83C 247C>T PACA-CA 18 51813697 51813697 single base substitution C T upstream_gene_variant PACA-CA 18 51816373 51816373 single base substitution C A downstream_gene_variant PACA-CA 18 51816373 51816373 single base substitution C A intron_variant PACA-CA 18 51816373 51816373 single base substitution C A upstream_gene_variant PACA-CA 18 51818052 51818052 single base substitution A G downstream_gene_variant PACA-CA 18 51818052 51818052 single base substitution A G exon_variant PACA-CA 18 51818052 51818052 single base substitution A G intron_variant PACA-CA 18 51824751 51824751 insertion of <=200bp - T downstream_gene_variant PACA-CA 18 51824751 51824751 insertion of <=200bp - T intron_variant PACA-CA 18 51826019 51826019 single base substitution A G downstream_gene_variant PACA-CA 18 51826019 51826019 single base substitution A G intron_variant PACA-CA 18 51830423 51830423 deletion of <=200bp T - intron_variant PACA-CA 18 51833645 51833645 single base substitution G A intron_variant PACA-CA 18 51833917 51833917 single base substitution G A intron_variant PACA-CA 18 51849581 51849581 single base substitution G T downstream_gene_variant PAEN-AU 18 51791325 51791325 single base substitution C G upstream_gene_variant PAEN-AU 18 51851066 51851066 single base substitution G A downstream_gene_variant PBCA-DE 18 51793198 51793198 single base substitution A T upstream_gene_variant PBCA-DE 18 51794326 51794326 single base substitution G A upstream_gene_variant PBCA-DE 18 51797308 51797308 single base substitution T C exon_variant PBCA-DE 18 51797308 51797308 single base substitution T C intron_variant PBCA-DE 18 51797308 51797308 single base substitution T C upstream_gene_variant PBCA-DE 18 51801167 51801167 deletion of <=200bp T - intron_variant PBCA-DE 18 51801167 51801167 deletion of <=200bp T - upstream_gene_variant PBCA-DE 18 51804204 51804204 single base substitution G A exon_variant PBCA-DE 18 51804204 51804204 single base substitution G A missense_variant G112S 334G>A PBCA-DE 18 51804204 51804204 single base substitution G A missense_variant G136S 406G>A PBCA-DE 18 51804204 51804204 single base substitution G A missense_variant G180S 538G>A PBCA-DE 18 51804204 51804204 single base substitution G A missense_variant G54S 160G>A PBCA-DE 18 51804204 51804204 single base substitution G A missense_variant G77S 229G>A PBCA-DE 18 51812001 51812001 single base substitution C T downstream_gene_variant PBCA-DE 18 51812001 51812001 single base substitution C T intron_variant PBCA-DE 18 51826960 51826960 single base substitution T C downstream_gene_variant PBCA-DE 18 51826960 51826960 single base substitution T C intron_variant PBCA-DE 18 51828831 51828831 single base substitution T C downstream_gene_variant PBCA-DE 18 51828831 51828831 single base substitution T C intron_variant PBCA-DE 18 51835500 51835500 single base substitution C T intron_variant PBCA-DE 18 51843225 51843225 single base substitution T C intron_variant PBCA-DE 18 51843226 51843226 single base substitution G C intron_variant PBCA-DE 18 51847646 51847646 single base substitution C T downstream_gene_variant PBCA-DE 18 51850335 51850336 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 18 51851596 51851596 single base substitution G A downstream_gene_variant PBCA-DE 18 51851607 51851608 deletion of <=200bp TC - downstream_gene_variant PRAD-CA 18 51814061 51814061 single base substitution T G downstream_gene_variant PRAD-CA 18 51814061 51814061 single base substitution T G exon_variant PRAD-CA 18 51814061 51814061 single base substitution T G intron_variant PRAD-CA 18 51814061 51814061 single base substitution T G upstream_gene_variant PRAD-CA 18 51835098 51835098 single base substitution T C intron_variant PRAD-CA 18 51843880 51843880 single base substitution G T intron_variant PRAD-UK 18 51791813 51791813 single base substitution C T upstream_gene_variant PRAD-UK 18 51794523 51794523 single base substitution T C upstream_gene_variant PRAD-UK 18 51803796 51803796 single base substitution A G intron_variant PRAD-UK 18 51804260 51804260 single base substitution A T intron_variant PRAD-UK 18 51804260 51804260 single base substitution A T upstream_gene_variant PRAD-UK 18 51814045 51814045 single base substitution G T downstream_gene_variant PRAD-UK 18 51814045 51814045 single base substitution G T exon_variant PRAD-UK 18 51814045 51814045 single base substitution G T intron_variant PRAD-UK 18 51814045 51814045 single base substitution G T upstream_gene_variant PRAD-UK 18 51834077 51834077 single base substitution G C intron_variant PRAD-US 18 51795958 51795960 deletion of <=200bp CGA - 5_prime_UTR_variant PRAD-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD12G PRAD-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD14G PRAD-US 18 51795958 51795960 deletion of <=200bp CGA - upstream_gene_variant READ-US 18 51813701 51813701 single base substitution G A 3_prime_UTR_variant READ-US 18 51813701 51813701 single base substitution G A downstream_gene_variant READ-US 18 51813701 51813701 single base substitution G A exon_variant READ-US 18 51813701 51813701 single base substitution G A missense_variant R247Q 740G>A READ-US 18 51813701 51813701 single base substitution G A missense_variant R270Q 809G>A READ-US 18 51813701 51813701 single base substitution G A missense_variant R294Q 881G>A READ-US 18 51813701 51813701 single base substitution G A missense_variant R373Q 1118G>A READ-US 18 51813701 51813701 single base substitution G A missense_variant R84Q 251G>A READ-US 18 51813701 51813701 single base substitution G A upstream_gene_variant READ-US 18 51851242 51851242 single base substitution G T downstream_gene_variant RECA-EU 18 51791214 51791214 single base substitution T G upstream_gene_variant RECA-EU 18 51799033 51799033 single base substitution G A intron_variant RECA-EU 18 51799033 51799033 single base substitution G A upstream_gene_variant RECA-EU 18 51804499 51804499 single base substitution G A intron_variant RECA-EU 18 51804499 51804499 single base substitution G A upstream_gene_variant RECA-EU 18 51805434 51805434 single base substitution G A intron_variant RECA-EU 18 51805434 51805434 single base substitution G A upstream_gene_variant RECA-EU 18 51806910 51806910 single base substitution T C intron_variant RECA-EU 18 51806910 51806910 single base substitution T C upstream_gene_variant RECA-EU 18 51851223 51851223 single base substitution C T downstream_gene_variant SKCA-BR 18 51790876 51790876 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 18 51791307 51791307 insertion of <=200bp - TTG upstream_gene_variant SKCA-BR 18 51793670 51793670 single base substitution A G upstream_gene_variant SKCA-BR 18 51793691 51793691 single base substitution G A upstream_gene_variant SKCA-BR 18 51804259 51804259 single base substitution C T intron_variant SKCA-BR 18 51804259 51804259 single base substitution C T upstream_gene_variant SKCA-BR 18 51805420 51805420 single base substitution G A intron_variant SKCA-BR 18 51805420 51805420 single base substitution G A upstream_gene_variant SKCA-BR 18 51812179 51812179 single base substitution C T downstream_gene_variant SKCA-BR 18 51812179 51812179 single base substitution C T intron_variant SKCA-BR 18 51812659 51812659 single base substitution C T downstream_gene_variant SKCA-BR 18 51812659 51812659 single base substitution C T intron_variant SKCA-BR 18 51813494 51813495 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 18 51813494 51813495 deletion of <=200bp TA - intron_variant SKCA-BR 18 51813494 51813495 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 18 51813498 51813498 single base substitution C T downstream_gene_variant SKCA-BR 18 51813498 51813498 single base substitution C T intron_variant SKCA-BR 18 51813498 51813498 single base substitution C T upstream_gene_variant SKCA-BR 18 51814665 51814665 single base substitution C T downstream_gene_variant SKCA-BR 18 51814665 51814665 single base substitution C T intron_variant SKCA-BR 18 51814665 51814665 single base substitution C T upstream_gene_variant SKCA-BR 18 51815724 51815724 single base substitution T A downstream_gene_variant SKCA-BR 18 51815724 51815724 single base substitution T A intron_variant SKCA-BR 18 51815724 51815724 single base substitution T A upstream_gene_variant SKCA-BR 18 51824031 51824031 single base substitution C A 3_prime_UTR_variant SKCA-BR 18 51824031 51824031 single base substitution C A downstream_gene_variant SKCA-BR 18 51824031 51824031 single base substitution C A intron_variant SKCA-BR 18 51824674 51824674 single base substitution C A downstream_gene_variant SKCA-BR 18 51824674 51824674 single base substitution C A intron_variant SKCA-BR 18 51829129 51829129 single base substitution C T downstream_gene_variant SKCA-BR 18 51829129 51829129 single base substitution C T intron_variant SKCA-BR 18 51831226 51831226 single base substitution T C intron_variant SKCA-BR 18 51832363 51832363 single base substitution C T intron_variant SKCA-BR 18 51832864 51832864 single base substitution T A intron_variant SKCA-BR 18 51834618 51834618 single base substitution C T intron_variant SKCA-BR 18 51835238 51835238 single base substitution C T intron_variant SKCA-BR 18 51836676 51836676 single base substitution C T intron_variant SKCA-BR 18 51836824 51836824 single base substitution C T intron_variant SKCA-BR 18 51838053 51838053 single base substitution G A intron_variant SKCA-BR 18 51838054 51838054 single base substitution G A intron_variant SKCA-BR 18 51840682 51840682 single base substitution G A intron_variant SKCA-BR 18 51840884 51840884 single base substitution C T intron_variant SKCA-BR 18 51841268 51841268 single base substitution C T intron_variant SKCA-BR 18 51842121 51842121 single base substitution T G intron_variant SKCA-BR 18 51843008 51843008 single base substitution C T intron_variant SKCA-BR 18 51845572 51845572 single base substitution C T intron_variant SKCA-BR 18 51847267 51847267 single base substitution C T intron_variant SKCA-BR 18 51847656 51847656 single base substitution C T downstream_gene_variant SKCA-BR 18 51849029 51849029 single base substitution G C downstream_gene_variant SKCA-BR 18 51849538 51849538 single base substitution C G downstream_gene_variant SKCA-BR 18 51849557 51849557 single base substitution G T downstream_gene_variant SKCA-BR 18 51851121 51851121 single base substitution C T downstream_gene_variant SKCA-BR 18 51851544 51851544 single base substitution C T downstream_gene_variant SKCA-BR 18 51852591 51852591 single base substitution G A downstream_gene_variant SKCM-US 18 51810326 51810326 single base substitution C T 3_prime_UTR_variant SKCM-US 18 51810326 51810326 single base substitution C T downstream_gene_variant SKCM-US 18 51810326 51810326 single base substitution C T exon_variant SKCM-US 18 51810326 51810326 single base substitution C T missense_variant S211L 632C>T SKCM-US 18 51810326 51810326 single base substitution C T missense_variant S234L 701C>T SKCM-US 18 51810326 51810326 single base substitution C T missense_variant S258L 773C>T SKCM-US 18 51810326 51810326 single base substitution C T missense_variant S337L 1010C>T SKCM-US 18 51810326 51810326 single base substitution C T missense_variant S48L 143C>T SKCM-US 18 51810326 51810326 single base substitution C T upstream_gene_variant SKCM-US 18 51810329 51810329 single base substitution C T 3_prime_UTR_variant SKCM-US 18 51810329 51810329 single base substitution C T downstream_gene_variant SKCM-US 18 51810329 51810329 single base substitution C T exon_variant SKCM-US 18 51810329 51810329 single base substitution C T missense_variant S212F 635C>T SKCM-US 18 51810329 51810329 single base substitution C T missense_variant S235F 704C>T SKCM-US 18 51810329 51810329 single base substitution C T missense_variant S259F 776C>T SKCM-US 18 51810329 51810329 single base substitution C T missense_variant S338F 1013C>T SKCM-US 18 51810329 51810329 single base substitution C T missense_variant S49F 146C>T SKCM-US 18 51810329 51810329 single base substitution C T upstream_gene_variant SKCM-US 18 51818283 51818283 single base substitution C T 3_prime_UTR_variant SKCM-US 18 51818283 51818283 single base substitution C T downstream_gene_variant SKCM-US 18 51818283 51818283 single base substitution C T exon_variant SKCM-US 18 51818283 51818283 single base substitution C T intron_variant SKCM-US 18 51818283 51818283 single base substitution C T missense_variant H301Y 901C>T SKCM-US 18 51818283 51818283 single base substitution C T missense_variant H324Y 970C>T SKCM-US 18 51818283 51818283 single base substitution C T missense_variant H348Y 1042C>T SKCM-US 18 51818283 51818283 single base substitution C T missense_variant H427Y 1279C>T SKCM-US 18 51818291 51818291 single base substitution C T 3_prime_UTR_variant SKCM-US 18 51818291 51818291 single base substitution C T downstream_gene_variant SKCM-US 18 51818291 51818291 single base substitution C T exon_variant SKCM-US 18 51818291 51818291 single base substitution C T intron_variant SKCM-US 18 51818291 51818291 single base substitution C T synonymous_variant T303T 909C>T SKCM-US 18 51818291 51818291 single base substitution C T synonymous_variant T326T 978C>T SKCM-US 18 51818291 51818291 single base substitution C T synonymous_variant T350T 1050C>T SKCM-US 18 51818291 51818291 single base substitution C T synonymous_variant T429T 1287C>T SKCM-US 18 51820122 51820122 single base substitution C T 3_prime_UTR_variant SKCM-US 18 51820122 51820122 single base substitution C T exon_variant SKCM-US 18 51820122 51820122 single base substitution C T intron_variant SKCM-US 18 51820122 51820122 single base substitution C T missense_variant P377L 1130C>T SKCM-US 18 51820122 51820122 single base substitution C T missense_variant P400L 1199C>T SKCM-US 18 51820122 51820122 single base substitution C T missense_variant P424L 1271C>T SKCM-US 18 51820122 51820122 single base substitution C T missense_variant P503L 1508C>T SKCM-US 18 51820381 51820381 single base substitution C T 3_prime_UTR_variant SKCM-US 18 51820381 51820381 single base substitution C T downstream_gene_variant SKCM-US 18 51820381 51820381 single base substitution C T intron_variant SKCM-US 18 51820381 51820381 single base substitution C T synonymous_variant S463S 1389C>T SKCM-US 18 51820381 51820381 single base substitution C T synonymous_variant S486S 1458C>T SKCM-US 18 51820381 51820381 single base substitution C T synonymous_variant S510S 1530C>T SKCM-US 18 51820381 51820381 single base substitution C T synonymous_variant S589S 1767C>T SKCM-US 18 51820391 51820391 single base substitution C G 3_prime_UTR_variant SKCM-US 18 51820391 51820391 single base substitution C G downstream_gene_variant SKCM-US 18 51820391 51820391 single base substitution C G intron_variant SKCM-US 18 51820391 51820391 single base substitution C G missense_variant Q467E 1399C>G SKCM-US 18 51820391 51820391 single base substitution C G missense_variant Q490E 1468C>G SKCM-US 18 51820391 51820391 single base substitution C G missense_variant Q514E 1540C>G SKCM-US 18 51820391 51820391 single base substitution C G missense_variant Q593E 1777C>G SKCM-US 18 51820450 51820450 single base substitution T C 3_prime_UTR_variant SKCM-US 18 51820450 51820450 single base substitution T C downstream_gene_variant SKCM-US 18 51820450 51820450 single base substitution T C intron_variant SKCM-US 18 51820450 51820450 single base substitution T C synonymous_variant S486S 1458T>C SKCM-US 18 51820450 51820450 single base substitution T C synonymous_variant S509S 1527T>C SKCM-US 18 51820450 51820450 single base substitution T C synonymous_variant S533S 1599T>C SKCM-US 18 51820450 51820450 single base substitution T C synonymous_variant S612S 1836T>C SKCM-US 18 51820709 51820709 single base substitution G C 3_prime_UTR_variant SKCM-US 18 51820709 51820709 single base substitution G C downstream_gene_variant SKCM-US 18 51820709 51820709 single base substitution G C intron_variant SKCM-US 18 51820709 51820709 single base substitution G C missense_variant D573H 1717G>C SKCM-US 18 51820709 51820709 single base substitution G C missense_variant D596H 1786G>C SKCM-US 18 51820709 51820709 single base substitution G C missense_variant D620H 1858G>C SKCM-US 18 51820709 51820709 single base substitution G C missense_variant D699H 2095G>C SKCM-US 18 51851088 51851088 single base substitution C T downstream_gene_variant SKCM-US 18 51851172 51851172 single base substitution C T downstream_gene_variant SKCM-US 18 51851242 51851242 single base substitution G A downstream_gene_variant STAD-US 18 51807191 51807191 single base substitution T C exon_variant STAD-US 18 51807191 51807191 single base substitution T C intron_variant STAD-US 18 51807191 51807191 single base substitution T C synonymous_variant F112F 336T>C STAD-US 18 51807191 51807191 single base substitution T C synonymous_variant F135F 405T>C STAD-US 18 51807191 51807191 single base substitution T C synonymous_variant F170F 510T>C STAD-US 18 51807191 51807191 single base substitution T C synonymous_variant F194F 582T>C STAD-US 18 51807191 51807191 single base substitution T C synonymous_variant F238F 714T>C STAD-US 18 51807191 51807191 single base substitution T C upstream_gene_variant STAD-US 18 51813729 51813729 single base substitution T C 3_prime_UTR_variant STAD-US 18 51813729 51813729 single base substitution T C downstream_gene_variant STAD-US 18 51813729 51813729 single base substitution T C exon_variant STAD-US 18 51813729 51813729 single base substitution T C synonymous_variant R256R 768T>C STAD-US 18 51813729 51813729 single base substitution T C synonymous_variant R279R 837T>C STAD-US 18 51813729 51813729 single base substitution T C synonymous_variant R303R 909T>C STAD-US 18 51813729 51813729 single base substitution T C synonymous_variant R382R 1146T>C STAD-US 18 51813729 51813729 single base substitution T C synonymous_variant R93R 279T>C STAD-US 18 51813729 51813729 single base substitution T C upstream_gene_variant STAD-US 18 51813737 51813737 single base substitution G A 3_prime_UTR_variant STAD-US 18 51813737 51813737 single base substitution G A downstream_gene_variant STAD-US 18 51813737 51813737 single base substitution G A exon_variant STAD-US 18 51813737 51813737 single base substitution G A missense_variant R259H 776G>A STAD-US 18 51813737 51813737 single base substitution G A missense_variant R282H 845G>A STAD-US 18 51813737 51813737 single base substitution G A missense_variant R306H 917G>A STAD-US 18 51813737 51813737 single base substitution G A missense_variant R385H 1154G>A STAD-US 18 51813737 51813737 single base substitution G A missense_variant R96H 287G>A STAD-US 18 51813737 51813737 single base substitution G A upstream_gene_variant STAD-US 18 51813768 51813768 single base substitution G A 3_prime_UTR_variant STAD-US 18 51813768 51813768 single base substitution G A downstream_gene_variant STAD-US 18 51813768 51813768 single base substitution G A exon_variant STAD-US 18 51813768 51813768 single base substitution G A synonymous_variant Q106Q 318G>A STAD-US 18 51813768 51813768 single base substitution G A synonymous_variant Q269Q 807G>A STAD-US 18 51813768 51813768 single base substitution G A synonymous_variant Q292Q 876G>A STAD-US 18 51813768 51813768 single base substitution G A synonymous_variant Q316Q 948G>A STAD-US 18 51813768 51813768 single base substitution G A synonymous_variant Q395Q 1185G>A STAD-US 18 51813768 51813768 single base substitution G A upstream_gene_variant STAD-US 18 51820306 51820306 single base substitution C A 3_prime_UTR_variant STAD-US 18 51820306 51820306 single base substitution C A downstream_gene_variant STAD-US 18 51820306 51820306 single base substitution C A intron_variant STAD-US 18 51820306 51820306 single base substitution C A synonymous_variant A438A 1314C>A STAD-US 18 51820306 51820306 single base substitution C A synonymous_variant A461A 1383C>A STAD-US 18 51820306 51820306 single base substitution C A synonymous_variant A485A 1455C>A STAD-US 18 51820306 51820306 single base substitution C A synonymous_variant A564A 1692C>A STAD-US 18 51820532 51820532 single base substitution G T 3_prime_UTR_variant STAD-US 18 51820532 51820532 single base substitution G T downstream_gene_variant STAD-US 18 51820532 51820532 single base substitution G T intron_variant STAD-US 18 51820532 51820532 single base substitution G T stop_gained E514* 1540G>T STAD-US 18 51820532 51820532 single base substitution G T stop_gained E537* 1609G>T STAD-US 18 51820532 51820532 single base substitution G T stop_gained E561* 1681G>T STAD-US 18 51820532 51820532 single base substitution G T stop_gained E640* 1918G>T STAD-US 18 51820609 51820609 single base substitution G A 3_prime_UTR_variant STAD-US 18 51820609 51820609 single base substitution G A downstream_gene_variant STAD-US 18 51820609 51820609 single base substitution G A intron_variant STAD-US 18 51820609 51820609 single base substitution G A synonymous_variant E539E 1617G>A STAD-US 18 51820609 51820609 single base substitution G A synonymous_variant E562E 1686G>A STAD-US 18 51820609 51820609 single base substitution G A synonymous_variant E586E 1758G>A STAD-US 18 51820609 51820609 single base substitution G A synonymous_variant E665E 1995G>A STAD-US 18 51851142 51851142 single base substitution A C downstream_gene_variant STAD-US 18 51851166 51851166 deletion of <=200bp T - downstream_gene_variant UCEC-US 18 51795958 51795960 deletion of <=200bp CGA - 5_prime_UTR_variant UCEC-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD12G UCEC-US 18 51795958 51795960 deletion of <=200bp CGA - inframe_deletion GD14G UCEC-US 18 51795958 51795960 deletion of <=200bp CGA - upstream_gene_variant UCEC-US 18 51800393 51800393 single base substitution T C exon_variant UCEC-US 18 51800393 51800393 single base substitution T C synonymous_variant C10C 30T>C UCEC-US 18 51800393 51800393 single base substitution T C synonymous_variant C113C 339T>C UCEC-US 18 51800393 51800393 single base substitution T C synonymous_variant C45C 135T>C UCEC-US 18 51800393 51800393 single base substitution T C synonymous_variant C69C 207T>C UCEC-US 18 51800393 51800393 single base substitution T C upstream_gene_variant UCEC-US 18 51804084 51804084 single base substitution G T exon_variant UCEC-US 18 51804084 51804084 single base substitution G T intron_variant UCEC-US 18 51804084 51804084 single base substitution G T stop_gained E140* 418G>T UCEC-US 18 51804084 51804084 single base substitution G T stop_gained E37* 109G>T UCEC-US 18 51804084 51804084 single base substitution G T stop_gained E72* 214G>T UCEC-US 18 51804084 51804084 single base substitution G T stop_gained E96* 286G>T UCEC-US 18 51809309 51809309 single base substitution T G downstream_gene_variant UCEC-US 18 51809309 51809309 single base substitution T G exon_variant UCEC-US 18 51809309 51809309 single base substitution T G missense_variant I11S 32T>G UCEC-US 18 51809309 51809309 single base substitution T G missense_variant I174S 521T>G UCEC-US 18 51809309 51809309 single base substitution T G missense_variant I197S 590T>G UCEC-US 18 51809309 51809309 single base substitution T G missense_variant I221S 662T>G UCEC-US 18 51809309 51809309 single base substitution T G missense_variant I300S 899T>G UCEC-US 18 51809309 51809309 single base substitution T G upstream_gene_variant UCEC-US 18 51810358 51810358 single base substitution G T 3_prime_UTR_variant UCEC-US 18 51810358 51810358 single base substitution G T downstream_gene_variant UCEC-US 18 51810358 51810358 single base substitution G T exon_variant UCEC-US 18 51810358 51810358 single base substitution G T stop_gained E222* 664G>T UCEC-US 18 51810358 51810358 single base substitution G T stop_gained E245* 733G>T UCEC-US 18 51810358 51810358 single base substitution G T stop_gained E269* 805G>T UCEC-US 18 51810358 51810358 single base substitution G T stop_gained E348* 1042G>T UCEC-US 18 51810358 51810358 single base substitution G T stop_gained E59* 175G>T UCEC-US 18 51810358 51810358 single base substitution G T upstream_gene_variant UCEC-US 18 51813698 51813698 single base substitution G A 3_prime_UTR_variant UCEC-US 18 51813698 51813698 single base substitution G A downstream_gene_variant UCEC-US 18 51813698 51813698 single base substitution G A exon_variant UCEC-US 18 51813698 51813698 single base substitution G A missense_variant R246H 737G>A UCEC-US 18 51813698 51813698 single base substitution G A missense_variant R269H 806G>A UCEC-US 18 51813698 51813698 single base substitution G A missense_variant R293H 878G>A UCEC-US 18 51813698 51813698 single base substitution G A missense_variant R372H 1115G>A UCEC-US 18 51813698 51813698 single base substitution G A missense_variant R83H 248G>A UCEC-US 18 51813698 51813698 single base substitution G A upstream_gene_variant UCEC-US 18 51818215 51818215 single base substitution T C 3_prime_UTR_variant UCEC-US 18 51818215 51818215 single base substitution T C downstream_gene_variant UCEC-US 18 51818215 51818215 single base substitution T C exon_variant UCEC-US 18 51818215 51818215 single base substitution T C intron_variant UCEC-US 18 51818215 51818215 single base substitution T C missense_variant V278A 833T>C UCEC-US 18 51818215 51818215 single base substitution T C missense_variant V301A 902T>C UCEC-US 18 51818215 51818215 single base substitution T C missense_variant V325A 974T>C UCEC-US 18 51818215 51818215 single base substitution T C missense_variant V404A 1211T>C UCEC-US 18 51820370 51820370 single base substitution G A 3_prime_UTR_variant UCEC-US 18 51820370 51820370 single base substitution G A downstream_gene_variant UCEC-US 18 51820370 51820370 single base substitution G A intron_variant UCEC-US 18 51820370 51820370 single base substitution G A missense_variant D460N 1378G>A UCEC-US 18 51820370 51820370 single base substitution G A missense_variant D483N 1447G>A UCEC-US 18 51820370 51820370 single base substitution G A missense_variant D507N 1519G>A UCEC-US 18 51820370 51820370 single base substitution G A missense_variant D586N 1756G>A UCEC-US 18 51820532 51820532 single base substitution G T 3_prime_UTR_variant UCEC-US 18 51820532 51820532 single base substitution G T downstream_gene_variant UCEC-US 18 51820532 51820532 single base substitution G T intron_variant UCEC-US 18 51820532 51820532 single base substitution G T stop_gained E514* 1540G>T UCEC-US 18 51820532 51820532 single base substitution G T stop_gained E537* 1609G>T UCEC-US 18 51820532 51820532 single base substitution G T stop_gained E561* 1681G>T UCEC-US 18 51820532 51820532 single base substitution G T stop_gained E640* 1918G>T UCEC-US 18 51820558 51820558 single base substitution T C 3_prime_UTR_variant UCEC-US 18 51820558 51820558 single base substitution T C downstream_gene_variant UCEC-US 18 51820558 51820558 single base substitution T C intron_variant UCEC-US 18 51820558 51820558 single base substitution T C synonymous_variant N522N 1566T>C UCEC-US 18 51820558 51820558 single base substitution T C synonymous_variant N545N 1635T>C UCEC-US 18 51820558 51820558 single base substitution T C synonymous_variant N569N 1707T>C UCEC-US 18 51820558 51820558 single base substitution T C synonymous_variant N648N 1944T>C UCEC-US 18 51851238 51851238 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-F00121 COSM365722 c.449C>T p.A150V Substitution - Missense 18:54277820-54277820 + TCGA-BR-4292-01 COSM4072586 c.1692C>A p.A564A Substitution - coding silent 18:54293936-54293936 + HX32T COSM3717950 c.621G>T p.E207D Substitution - Missense 18:54280728-54280728 + 8 COSM5015559 c.1610T>C p.V537A Substitution - Missense 18:54293854-54293854 + TCGA-BR-8680-01 COSM299426 c.1843G>T p.E615* Substitution - Nonsense 18:54294162-54294162 + TCGA-BR-6452-01 COSM4072578 c.714T>C p.F238F Substitution - coding silent 18:54280821-54280821 + TCGA-BT-A20Q-01 COSM417818 c.1249C>T p.R417* Substitution - Nonsense 18:54291883-54291883 + T3190 COSM4716461 c.1641_1643delTTC p.S548delS Deletion - In frame 18:54293960-54293962 + TCGA-B5-A11E-01 COSM988958 c.343G>T p.E115* Substitution - Nonsense 18:54277714-54277714 + HCC2998 COSM2879948 c.1611A>G p.L537L Substitution - coding silent 18:54293930-54293930 + TCGA-06-2564-01 COSM3403564 c.914G>A p.R305H Substitution - Missense 18:54282954-54282954 + TCGA-D1-A17K-01 COSM988962 c.828A>T p.S276S Substitution - coding silent 18:54282943-54282943 + Pat_45_B COSM5854275 c.557C>T p.A186V Substitution - Missense 18:54280739-54280739 + TCGA-37-3783-01 COSM709353 c.1145G>T p.R382L Substitution - Missense 18:54287358-54287358 + PT41 COSM5924709 c.1718C>T p.S573F Substitution - Missense 18:54293962-54293962 + RMS110_ COSM4987219 c.1889C>T p.A630V Substitution - Missense 18:54294208-54294208 + AOCS-091-1-3 COSM4140111 c.752A>T p.E251V Substitution - Missense 18:54282867-54282867 + TCGA-18-3411-01 COSM709352 c.1468A>G p.I490V Substitution - Missense 18:54293787-54293787 + AOCS-091-1-3 COSM4140110 c.827A>T p.E276V Substitution - Missense 18:54282867-54282867 + TCGA-FJ-A3ZF-01 COSM3796450 c.484G>C p.E162Q Substitution - Missense 18:54277780-54277780 + TCGA-AA-3982-01 COSM5120378 c.1720A>G p.K574E Substitution - Missense 18:54293964-54293964 + LC_C32 COSM1189708 c.1510C>T p.Q504* Substitution - Nonsense 18:54293829-54293829 + T47 COSM1177681 c.1574A>G p.E525G Substitution - Missense 18:54293893-54293893 + pfg127T COSM4755172 c.850C>T p.R284C Substitution - Missense 18:54282890-54282890 + BN26T COSM1611291 c.1290A>G p.P430P Substitution - coding silent 18:54291999-54291999 + LUAD-E00918 COSM365117 c.1385G>C p.R462P Substitution - Missense 18:54292019-54292019 + TCGA-AA-A010-01 COSM299426 c.1843G>T p.E615* Substitution - Nonsense 18:54294162-54294162 + TCGA-AD-6889-01 COSM1389160 c.839T>C p.I280T Substitution - Missense 18:54282879-54282879 + T3190 COSM4716460 c.1716_1718delTTC p.S573delS Deletion - In frame 18:54293960-54293962 + 587336 COSM1221471 c.1223T>C p.V408A Substitution - Missense 18:54291932-54291932 + EV002-R4 COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + TCGA-EB-A1NK-01 COSM3526454 c.935C>T p.S312L Substitution - Missense 18:54283956-54283956 + TCGA-DA-A1I8-06 COSM3526457 c.1508C>T p.P503L Substitution - Missense 18:54293752-54293752 + NB-0121 COSM1287297 c.1541A>G p.D514G Substitution - Missense 18:54293785-54293785 + CHC892T COSM4798133 c.55G>A p.V19M Substitution - Missense 18:54271374-54271374 + Pat_06_B COSM5854273 c.421C>T p.Q141* Substitution - Nonsense 18:54277792-54277792 + RMS110_ COSM4987218 c.1964C>T p.A655V Substitution - Missense 18:54294208-54294208 + TCGA-FS-A1Z3-06 COSM3526461 c.1836T>C p.S612S Substitution - coding silent 18:54294080-54294080 + TCGA-AX-A05Z-01 COSM988971 c.1944T>C p.N648N Substitution - coding silent 18:54294188-54294188 + T2940 COSM4716459 c.661T>G p.L221V Substitution - Missense 18:54280843-54280843 + BD114T COSM5504412 c.1458G>C p.R486R Substitution - coding silent 18:54293702-54293702 + ESCC-211T COSM3937764 c.1764A>G p.L588L Substitution - coding silent 18:54294008-54294008 + TCGA-AA-3663-01 COSM1389171 c.2165A>G p.K722R Substitution - Missense 18:54294409-54294409 + YUKAE COSM5388253 c.657A>T p.T219T Substitution - coding silent 18:54280839-54280839 + TCGA-FW-A3R5-06 COSM3891129 c.1287C>T p.T429T Substitution - coding silent 18:54291921-54291921 + PT09_2 COSM1389157 c.44A>G p.D15G Substitution - Missense 18:54269590-54269590 + TCGA-BF-A3DL-01 COSM4904609 c.1777C>G p.Q593E Substitution - Missense 18:54294021-54294021 + TCGA-B5-A0JY-01 COSM988970 c.1681G>A p.D561N Substitution - Missense 18:54294000-54294000 + TCGA-AA-A00N-01 COSM276836 c.1430C>T p.S477F Substitution - Missense 18:54293749-54293749 + ICGC_MB82 COSM3764671 c.463G>A p.G155S Substitution - Missense 18:54277834-54277834 + CHC218T COSM5347619 c.1785_1793delCTCTGTATC p.S596_S598delSVS Deletion - In frame 18:54294029-54294037 + PTC-14C COSM4131015 c.143C>A p.P48Q Substitution - Missense 18:54271387-54271387 + HCT116 COSM2879961 c.1993G>A p.E665K Substitution - Missense 18:54294237-54294237 + LUAD-E00918 COSM365118 c.1310G>C p.R437P Substitution - Missense 18:54292019-54292019 + YUKAT COSM5388257 c.1776C>T p.S592S Substitution - coding silent 18:54294095-54294095 + TCGA-D7-5577-01 COSM4072585 c.1110G>A p.Q370Q Substitution - coding silent 18:54287398-54287398 + TCGA-D7-5577-01 COSM4072584 c.1185G>A p.Q395Q Substitution - coding silent 18:54287398-54287398 + PT41 COSM5924710 c.1643C>T p.S548F Substitution - Missense 18:54293962-54293962 + TCGA-D8-A1JC-01 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + TCGA-06-2564-01 COSM3403565 c.839G>A p.R280H Substitution - Missense 18:54282954-54282954 + PD4076a COSM5787490 c.2143G>C p.E715Q Substitution - Missense 18:54294387-54294387 + TCGA-AA-3663-01 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + 10-104 COSM3736624 c.947C>T p.S316F Substitution - Missense 18:54282987-54282987 + TCGA-EB-A430-01 COSM3526463 c.2095G>C p.D699H Substitution - Missense 18:54294339-54294339 + YUKAT COSM5388256 c.1851C>T p.S617S Substitution - coding silent 18:54294095-54294095 + PT43 COSM5926232 c.116A>G p.Y39C Substitution - Missense 18:54271435-54271435 + CAL33 COSM4275746 c.1543C>T p.Q515* Substitution - Nonsense 18:54293862-54293862 + TCGA-06-5856-01 COSM988974 c.2101G>A p.A701T Substitution - Missense 18:54294420-54294420 + TCGA-06-5856-01 COSM988973 c.2176G>A p.A726T Substitution - Missense 18:54294420-54294420 + T155 COSM1176945 c.1906A>C p.N636H Substitution - Missense 18:54294225-54294225 + HT115 COSM2879926 c.1158A>C p.I386I Substitution - coding silent 18:54291867-54291867 + CSCC-10-T COSM4472900 c.1736C>T p.T579I Substitution - Missense 18:54294055-54294055 + LC_S24 COSM1189710 c.1921C>T p.Q641* Substitution - Nonsense 18:54294240-54294240 + S02273 COSM5681728 c.145A>T p.N49Y Substitution - Missense 18:54271389-54271389 + PD4106a COSM163613 c.1210A>G p.T404A Substitution - Missense 18:54291919-54291919 + DLD1 COSM2879897 c.753T>C p.C251C Substitution - coding silent 18:54280860-54280860 + J36_T COSM2879881 c.380A>G p.Y127C Substitution - Missense 18:54274064-54274064 + TCGA-AP-A0LM-01 COSM988959 c.899T>G p.I300S Substitution - Missense 18:54282939-54282939 + 2217529 COSM4421863 c.656C>G p.T219R Substitution - Missense 18:54280838-54280838 + TCGA-61-2102-01 COSM72245 c.811A>G p.K271E Substitution - Missense 18:54282926-54282926 + EV002-R3 COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + PT43 COSM5926231 c.191A>G p.Y64C Substitution - Missense 18:54271435-54271435 + LC_C9 COSM1189705 c.644A>T p.Q215L Substitution - Missense 18:54280751-54280751 + 587336 COSM1221470 c.1298T>C p.V433A Substitution - Missense 18:54291932-54291932 + LC_C32 COSM1189707 c.1585C>T p.Q529* Substitution - Nonsense 18:54293829-54293829 + LC_S24 COSM1189709 c.1996C>T p.Q666* Substitution - Nonsense 18:54294240-54294240 + PT45 COSM5927830 c.1010G>A p.R337K Substitution - Missense 18:54287298-54287298 + CAL33 COSM4275745 c.1618C>T p.Q540* Substitution - Nonsense 18:54293862-54293862 + sysucc-311T COSM5464324 c.1650A>C p.E550D Substitution - Missense 18:54293894-54293894 + TCGA-BR-6452-01 COSM4072579 c.639T>C p.F213F Substitution - coding silent 18:54280821-54280821 + TCGA-BP-4347-01 COSM3362555 c.476A>G p.N159S Substitution - Missense 18:54277847-54277847 + TCGA-EB-A1NK-01 COSM3526455 c.1013C>T p.S338F Substitution - Missense 18:54283959-54283959 + TCGA-B5-A11E-01 COSM299426 c.1843G>T p.E615* Substitution - Nonsense 18:54294162-54294162 + 587228 COSM1221468 c.131T>C p.V44A Substitution - Missense 18:54271375-54271375 + EV002-R3 COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + PD2187a COSM25655 c.917A>T p.D306V Substitution - Missense 18:54283938-54283938 + TCGA-AY-6386-01 COSM3692147 c.12G>A p.A4A Substitution - coding silent 18:54269633-54269633 + TCGA-AA-3977-01 COSM5118509 c.1453A>C p.N485H Substitution - Missense 18:54293697-54293697 + CSCC-5-T COSM4466973 c.1389C>T p.F463F Substitution - coding silent 18:54293708-54293708 + TCGA-AX-A05Z-01 COSM988963 c.1042G>T p.E348* Substitution - Nonsense 18:54283988-54283988 + TCGA-BH-A0C3-01 COSM1389157 c.44A>G p.D15G Substitution - Missense 18:54269590-54269590 + PCSI_0083_Pa_P_526 COSM3378521 c.1114C>T p.R372C Substitution - Missense 18:54287327-54287327 + TCGA-AY-6386-01 COSM3692146 c.87G>A p.A29A Substitution - coding silent 18:54269633-54269633 + TCGA-13-0884-01 COSM81600 c.195C>A p.T65T Substitution - coding silent 18:54273954-54273954 + TCGA-AG-3878-01 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + TCGA-AA-A010-01 COSM284134 c.1513G>T p.E505* Substitution - Nonsense 18:54293832-54293832 + Gp5D COSM2879905 c.857_865delTCCAAACCT p.Q287_F289delQTF Deletion - In frame 18:54282897-54282905 + S02273 COSM5681729 c.70A>T p.N24Y Substitution - Missense 18:54271389-54271389 + TCGA-HU-A4GT-01 COSM4072580 c.1146T>C p.R382R Substitution - coding silent 18:54287359-54287359 + PD7299a COSM1638254 c.864G>C p.E288D Substitution - Missense 18:54282979-54282979 + ICGC_MB82 COSM3764670 c.538G>A p.G180S Substitution - Missense 18:54277834-54277834 + Gp2D COSM2879906 c.782_790delTCCAAACCT p.Q262_F264delQTF Deletion - In frame 18:54282897-54282905 + 2492729 COSM5726766 c.837G>A p.Q279Q Substitution - coding silent 18:54282952-54282952 + TCGA-AA-3663-01 COSM1389172 c.2090A>G p.K697R Substitution - Missense 18:54294409-54294409 + EV002-R7 COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + Gp2D COSM2879955 c.1897C>T p.R633* Substitution - Nonsense 18:54294141-54294141 + TCGA-D1-A0ZS-01 COSM988968 c.1136T>C p.V379A Substitution - Missense 18:54291845-54291845 + EV002-R1 COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + TCGA-FW-A3R5-06 COSM3891130 c.1212C>T p.T404T Substitution - coding silent 18:54291921-54291921 + TCGA-DA-A1I8-06 COSM3526458 c.1433C>T p.P478L Substitution - Missense 18:54293752-54293752 + LOVO COSM2879930 c.1310G>A p.R437H Substitution - Missense 18:54292019-54292019 + TCGA-D1-A101-01 COSM988965 c.1115G>A p.R372H Substitution - Missense 18:54287328-54287328 + 258 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + TCGA-AA-A010-01 COSM299425 c.1691C>T p.A564V Substitution - Missense 18:54293935-54293935 + LUAD-S01302 COSM395677 c.538G>T p.G180C Substitution - Missense 18:54277834-54277834 + TCGA-CD-A48A-01 COSM4072582 c.1154G>A p.R385H Substitution - Missense 18:54287367-54287367 + TCGA-AD-A5EJ-01 COSM5133214 c.1409T>C p.M470T Substitution - Missense 18:54293653-54293653 + ESCC-211T COSM3937765 c.1689A>G p.L563L Substitution - coding silent 18:54294008-54294008 + TCGA-AA-3663-01 COSM1389167 c.1198+2T>A p.? Unknown 18:54287413-54287413 + Gp5D COSM2879906 c.782_790delTCCAAACCT p.Q262_F264delQTF Deletion - In frame 18:54282897-54282905 + TCGA-FS-A1Z3-06 COSM3526462 c.1761T>C p.S587S Substitution - coding silent 18:54294080-54294080 + TCGA-CZ-5469-01 COSM473912 c.851G>A p.R284H Substitution - Missense 18:54282891-54282891 + Gp2D COSM2879956 c.1822C>T p.R608* Substitution - Nonsense 18:54294141-54294141 + HCT15 COSM2879897 c.753T>C p.C251C Substitution - coding silent 18:54280860-54280860 + HCT116 COSM2879962 c.1918G>A p.E640K Substitution - Missense 18:54294237-54294237 + TCGA-AA-3663-01 COSM1389168 c.1123+2T>A p.? Unknown 18:54287413-54287413 + PCSI_0083_Pa_X COSM3378521 c.1114C>T p.R372C Substitution - Missense 18:54287327-54287327 + PCSI_0083_Pa_P COSM3378522 c.1039C>T p.R347C Substitution - Missense 18:54287327-54287327 + PT48 COSM5933733 c.1984G>A p.E662K Substitution - Missense 18:54294303-54294303 + S00947 COSM5664635 c.107G>T p.S36I Substitution - Missense 18:54269653-54269653 + TCGA-BR-8680-01 COSM299427 c.1918G>T p.E640* Substitution - Nonsense 18:54294162-54294162 + TCGA-BF-A3DL-01 COSM4904610 c.1702C>G p.Q568E Substitution - Missense 18:54294021-54294021 + TCGA-13-0919-01 COSM119645 c.83G>C p.R28T Substitution - Missense 18:54271402-54271402 + LUAD-B01169 COSM333590 c.1120T>C p.Y374H Substitution - Missense 18:54287333-54287333 + T2940 COSM4716458 c.736T>G p.L246V Substitution - Missense 18:54280843-54280843 + CSCC-10-T COSM4472899 c.1811C>T p.T604I Substitution - Missense 18:54294055-54294055 + TCGA-E2-A105-01 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + CSCC-55-T COSM4398452 c.1204C>T p.H402Y Substitution - Missense 18:54291913-54291913 + TCGA-BR-4292-01 COSM4072587 c.1617C>A p.A539A Substitution - coding silent 18:54293936-54293936 + CHC218T COSM5347620 c.1710_1718delCTCTGTATC p.S571_S573delSVS Deletion - In frame 18:54294029-54294037 + TCGA-AX-A05Z-01 COSM988964 c.967G>T p.E323* Substitution - Nonsense 18:54283988-54283988 + TCGA-D1-A16Y-01 COSM988955 c.339T>C p.C113C Substitution - coding silent 18:54274023-54274023 + ccRCC-46 COSM1663610 c.396T>A p.Y132* Substitution - Nonsense 18:54274080-54274080 + HCC2998 COSM2879947 c.1686A>G p.L562L Substitution - coding silent 18:54293930-54293930 + PTC-7C COSM3692146 c.87G>A p.A29A Substitution - coding silent 18:54269633-54269633 + CHC892T COSM4798133 c.55G>A p.V19M Substitution - Missense 18:54271374-54271374 + TCGA-AO-A0JL-01 COSM438211 c.143C>T p.P48L Substitution - Missense 18:54271387-54271387 + TCGA-AA-A02O-01 COSM5125891 c.493C>G p.L165V Substitution - Missense 18:54277789-54277789 + PCSI_0083_Pa_X COSM3378522 c.1039C>T p.R347C Substitution - Missense 18:54287327-54287327 + TCGA-EB-A1NK-01 COSM3526456 c.938C>T p.S313F Substitution - Missense 18:54283959-54283959 + 10-104 COSM3736625 c.872C>T p.S291F Substitution - Missense 18:54282987-54282987 + PTC-14C COSM4131016 c.68C>A p.P23Q Substitution - Missense 18:54271387-54271387 + LUAD-S01357 COSM386892 c.1108C>T p.Q370* Substitution - Nonsense 18:54287396-54287396 + 002 COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + 2217529 COSM4421862 c.731C>G p.T244R Substitution - Missense 18:54280838-54280838 + TCGA-FU-A3HZ-01 COSM4839442 c.814G>T p.E272* Substitution - Nonsense 18:54282929-54282929 + CSCC-5-T COSM4530093 c.1591G>A p.G531R Substitution - Missense 18:54293910-54293910 + TCGA-AG-A002-01 COSM263030 c.2015C>A p.S672Y Substitution - Missense 18:54294334-54294334 + TCGA-EI-6507-01 COSM1564031 c.1118G>A p.R373Q Substitution - Missense 18:54287331-54287331 + TCGA-BT-A20Q-01 COSM417819 c.1174C>T p.R392* Substitution - Nonsense 18:54291883-54291883 + Gp5D COSM2879955 c.1897C>T p.R633* Substitution - Nonsense 18:54294141-54294141 + EV002-R4 COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + 587228 COSM1221469 c.56T>C p.V19A Substitution - Missense 18:54271375-54271375 + TCGA-B5-A0JY-01 COSM988969 c.1756G>A p.D586N Substitution - Missense 18:54294000-54294000 + TCGA-D1-A0ZS-01 COSM988967 c.1211T>C p.V404A Substitution - Missense 18:54291845-54291845 + TCGA-BK-A0C9-01 COSM988974 c.2101G>A p.A701T Substitution - Missense 18:54294420-54294420 + TCGA-AD-6889-01 COSM1389161 c.764T>C p.I255T Substitution - Missense 18:54282879-54282879 + TCGA-AP-A0LM-01 COSM988960 c.824T>G p.I275S Substitution - Missense 18:54282939-54282939 + BN26 COSM1611291 c.1290A>G p.P430P Substitution - coding silent 18:54291999-54291999 + TCGA-CD-A48A-01 COSM4072583 c.1079G>A p.R360H Substitution - Missense 18:54287367-54287367 + TCGA-EB-A1NK-01 COSM3526453 c.1010C>T p.S337L Substitution - Missense 18:54283956-54283956 + TCGA-EI-6507-01 COSM1564032 c.1043G>A p.R348Q Substitution - Missense 18:54287331-54287331 + 8 COSM5015560 c.1535T>C p.V512A Substitution - Missense 18:54293854-54293854 + TCGA-AX-A05Z-01 COSM988972 c.1869T>C p.N623N Substitution - coding silent 18:54294188-54294188 + TCGA-AZ-4315-01 COSM1389169 c.1540G>T p.D514Y Substitution - Missense 18:54293784-54293784 + TCGA-BS-A0TC-01 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + TCGA-D9-A6EA-06 COSM4398452 c.1204C>T p.H402Y Substitution - Missense 18:54291913-54291913 + Pat_06_B COSM5854272 c.496C>T p.Q166* Substitution - Nonsense 18:54277792-54277792 + TCGA-D1-A16Y-01 COSM988956 c.264T>C p.C88C Substitution - coding silent 18:54274023-54274023 + EV002-R1 COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + HCT15 COSM2879898 c.678T>C p.C226C Substitution - coding silent 18:54280860-54280860 + TCGA-D9-A6EA-06 COSM4398451 c.1279C>T p.H427Y Substitution - Missense 18:54291913-54291913 + YUGURT COSM5388254 c.895_896GG>AA p.G299K Substitution - Missense 18:54282935-54282936 + TCGA-B5-A11E-01 COSM299427 c.1918G>T p.E640* Substitution - Nonsense 18:54294162-54294162 + 002 COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + PCSI_0083_Pa_P_526 COSM3378522 c.1039C>T p.R347C Substitution - Missense 18:54287327-54287327 + T155 COSM1176944 c.1981A>C p.N661H Substitution - Missense 18:54294225-54294225 + sysucc-311T COSM5464325 c.1575A>C p.E525D Substitution - Missense 18:54293894-54293894 + TCGA-CZ-5469-01 COSM473913 c.776G>A p.R259H Substitution - Missense 18:54282891-54282891 + PT48 COSM5933732 c.2059G>A p.E687K Substitution - Missense 18:54294303-54294303 + PD7299a COSM1638253 c.939G>C p.E313D Substitution - Missense 18:54282979-54282979 + J36_T COSM2879882 c.305A>G p.Y102C Substitution - Missense 18:54274064-54274064 + TCGA-EE-A3AG-06 COSM3526460 c.1692C>T p.S564S Substitution - coding silent 18:54294011-54294011 + TCGA-AO-A0JL-01 COSM438212 c.68C>T p.P23L Substitution - Missense 18:54271387-54271387 + TCGA-EB-A430-01 COSM3526464 c.2020G>C p.D674H Substitution - Missense 18:54294339-54294339 + 2492730 COSM5728631 c.1555C>T p.L519F Substitution - Missense 18:54293874-54293874 + HT115 COSM2879925 c.1233A>C p.I411I Substitution - coding silent 18:54291867-54291867 + HX32T COSM3717951 c.546G>T p.E182D Substitution - Missense 18:54280728-54280728 + ccRCC-46 COSM1663611 c.321T>A p.Y107* Substitution - Nonsense 18:54274080-54274080 + TCGA-37-3783-01 COSM709354 c.1070G>T p.R357L Substitution - Missense 18:54287358-54287358 + DLD1 COSM2879898 c.678T>C p.C226C Substitution - coding silent 18:54280860-54280860 + LOVO COSM2879929 c.1385G>A p.R462H Substitution - Missense 18:54292019-54292019 + T47 COSM1177680 c.1649A>G p.E550G Substitution - Missense 18:54293893-54293893 + PTC-7C COSM3692147 c.12G>A p.A4A Substitution - coding silent 18:54269633-54269633 + PCSI_0083_Pa_P COSM3378521 c.1114C>T p.R372C Substitution - Missense 18:54287327-54287327 + CHC892T COSM4798132 c.130G>A p.V44M Substitution - Missense 18:54271374-54271374 + T351 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + CSCC-5-T COSM4530092 c.1666G>A p.G556R Substitution - Missense 18:54293910-54293910 + PT09_1 COSM1389157 c.44A>G p.D15G Substitution - Missense 18:54269590-54269590 + TCGA-BP-4994-01 COSM1494157 c.1998A>G p.Q666Q Substitution - coding silent 18:54294242-54294242 + TCGA-B5-A11E-01 COSM988957 c.418G>T p.E140* Substitution - Nonsense 18:54277714-54277714 + EV002-R6 COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + PACA111 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + TCGA-AA-A010-01 COSM299424 c.1616C>T p.A539V Substitution - Missense 18:54293935-54293935 + 2492730 COSM5728630 c.1630C>T p.L544F Substitution - Missense 18:54293874-54293874 + TCGA-BP-4994-01 COSM1494158 c.1923A>G p.Q641Q Substitution - coding silent 18:54294242-54294242 + TCGA-BP-4347-01 COSM3362554 c.551A>G p.N184S Substitution - Missense 18:54277847-54277847 + LUAD-S01302 COSM395678 c.463G>T p.G155C Substitution - Missense 18:54277834-54277834 + HCC172 COSM3717953 c.966A>G p.E322E Substitution - coding silent 18:54283987-54283987 + TCGA-AZ-4315-01 COSM1389170 c.1465G>T p.D489Y Substitution - Missense 18:54293784-54293784 + HCC172 COSM3717952 c.1041A>G p.E347E Substitution - coding silent 18:54283987-54283987 + TCGA-BR-6452-01 COSM4072589 c.1920G>A p.E640E Substitution - coding silent 18:54294239-54294239 + PT45 COSM5927829 c.1085G>A p.R362K Substitution - Missense 18:54287298-54287298 + LUAD-S01357 COSM386891 c.1183C>T p.Q395* Substitution - Nonsense 18:54287396-54287396 + HCC172T COSM3717952 c.1041A>G p.E347E Substitution - coding silent 18:54283987-54283987 + CSCC-5-T COSM4466972 c.1464C>T p.F488F Substitution - coding silent 18:54293708-54293708 + TCGA-BK-A0C9-01 COSM988973 c.2176G>A p.A726T Substitution - Missense 18:54294420-54294420 + TCGA-22-4599-01 COSM709356 c.629C>G p.S210C Substitution - Missense 18:54280811-54280811 + EV002-M COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + CSCC-55-T COSM4398451 c.1279C>T p.H427Y Substitution - Missense 18:54291913-54291913 + 530 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + Gp2D COSM2879905 c.857_865delTCCAAACCT p.Q287_F289delQTF Deletion - In frame 18:54282897-54282905 + BN26T COSM1611290 c.1365A>G p.P455P Substitution - coding silent 18:54291999-54291999 + 2492729 COSM5726765 c.912G>A p.Q304Q Substitution - coding silent 18:54282952-54282952 + TCGA-FU-A3HZ-01 COSM4839441 c.889G>T p.E297* Substitution - Nonsense 18:54282929-54282929 + TCGA-18-3411-01 COSM709351 c.1543A>G p.I515V Substitution - Missense 18:54293787-54293787 + LUAD-F00121 COSM365721 c.524C>T p.A175V Substitution - Missense 18:54277820-54277820 + LUAD-NYU847 COSM376678 c.1771A>T p.S591C Substitution - Missense 18:54294015-54294015 + EV002-R9 COSM1162026 c.1424G>A p.R475K Substitution - Missense 18:54293743-54293743 + LN229 COSM288348 c.42_44delCGA p.D17delD Deletion - In frame 18:54269588-54269590 + EV002-R9 COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + TCGA-D1-A17K-01 COSM988961 c.903A>T p.S301S Substitution - coding silent 18:54282943-54282943 + TCGA-AG-A002-01 COSM263029 c.98T>A p.V33E Substitution - Missense 18:54271417-54271417 + Pat_45_B COSM5854274 c.632C>T p.A211V Substitution - Missense 18:54280739-54280739 + E7 COSM1666295 c.1153C>T p.R385C Substitution - Missense 18:54287366-54287366 + S00947 COSM5664636 c.32G>T p.S11I Substitution - Missense 18:54269653-54269653 + CHEWS027 COSM4580451 c.1056T>G p.S352R Substitution - Missense 18:54284002-54284002 + PD4076a COSM5787491 c.2068G>C p.E690Q Substitution - Missense 18:54294387-54294387 + TCGA-AA-A010-01 COSM299427 c.1918G>T p.E640* Substitution - Nonsense 18:54294162-54294162 + EV002-R7 COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + OSCC-GB_00600111 COSM4890169 c.682C>A p.H228N Substitution - Missense 18:54280864-54280864 + YUKAE COSM5388252 c.732A>T p.T244T Substitution - coding silent 18:54280839-54280839 + TCGA-D1-A101-01 COSM988966 c.1040G>A p.R347H Substitution - Missense 18:54287328-54287328 + EV002-M COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + CHC892T COSM4798132 c.130G>A p.V44M Substitution - Missense 18:54271374-54271374 + TCGA-FJ-A3ZF-01 COSM3796451 c.409G>C p.E137Q Substitution - Missense 18:54277780-54277780 + YUGURT COSM5388255 c.820_821GG>AA p.G274K Substitution - Missense 18:54282935-54282936 + NB-0121 COSM1287298 c.1466A>G p.D489G Substitution - Missense 18:54293785-54293785 + TCGA-A2-A0D3-01 COSM438214 c.2065T>G p.Y689D Substitution - Missense 18:54294384-54294384 + TCGA-A2-A0D3-01 COSM438213 c.2140T>G p.Y714D Substitution - Missense 18:54294384-54294384 + LUAD-NYU847 COSM376679 c.1696A>T p.S566C Substitution - Missense 18:54294015-54294015 + pfg127T COSM4755173 c.775C>T p.R259C Substitution - Missense 18:54282890-54282890 + TCGA-HU-A4GT-01 COSM4072581 c.1071T>C p.R357R Substitution - coding silent 18:54287359-54287359 + TCGA-22-4599-01 COSM709355 c.704C>G p.S235C Substitution - Missense 18:54280811-54280811 + CHEWS027 COSM4580452 c.981T>G p.S327R Substitution - Missense 18:54284002-54284002 + HCC172T COSM3717953 c.966A>G p.E322E Substitution - coding silent 18:54283987-54283987 + BN26 COSM1611290 c.1365A>G p.P455P Substitution - coding silent 18:54291999-54291999 + TCGA-EE-A3AG-06 COSM3526459 c.1767C>T p.S589S Substitution - coding silent 18:54294011-54294011 + LC_C9 COSM1189706 c.569A>T p.Q190L Substitution - Missense 18:54280751-54280751 + EV002-R6 COSM1162025 c.1499G>A p.R500K Substitution - Missense 18:54293743-54293743 + OSCC-GB_00600111 COSM4890168 c.757C>A p.H253N Substitution - Missense 18:54280864-54280864 + BD114T COSM5504413 c.1383G>C p.R461R Substitution - coding silent 18:54293702-54293702 + TCGA-BR-6452-01 COSM4072588 c.1995G>A p.E665E Substitution - coding silent 18:54294239-54294239 + LUAD-B01169 COSM333591 c.1045T>C p.Y349H Substitution - Missense 18:54287333-54287333 + Gp5D COSM2879956 c.1822C>T p.R608* Substitution - Nonsense 18:54294141-54294141 + E7 COSM1666296 c.1078C>T p.R360C Substitution - Missense 18:54287366-54287366 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.438533 18q21.1 605252

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D514G c.1541A>G 18 51820155 NB A G Missense p.I515V c.1543A>G 18 51820157 LUSC A G Missense p.K296E c.886A>G 18 51809296 OV A G Missense p.K574E c.1720A>G 18 51820334 COREAD A G Missense p.N184S c.551A>G 18 51804217 RCCC A G Missense p.T429A c.1285A>G 18 51818289 BRCA C A Synonymous p.A564A c.1692C>A 18 51820306 STAD C A Synonymous p.T90T c.270C>A 18 51800324 OV CGA - InFrameDeletion p.D17delD c.51_53delCGA 18 51795958 PRAD C G Missense p.D17E c.51C>G 18 51795967 BRCA C G Missense p.L165V c.493C>G 18 51804159 COREAD C G Missense p.Q593E c.1777C>G 18 51820391 CM C G Missense p.S235C c.704C>G 18 51807181 LUSC C T IntronicSNV . c.1404+10C>T 18 51818418 CM C T Missense p.H645Y c.1933C>T 18 51820547 CM C T Missense p.P48L c.143C>T 18 51797757 BRCA C T Missense p.P503L c.1508C>T 18 51820122 CM C T Missense p.P519L c.1556C>T 18 51820170 CM C T Missense p.S337L c.1010C>T 18 51810326 CM C T Missense p.S338F c.1013C>T 18 51810329 CM C T Missense p.S596F c.1787C>T 18 51820401 HNSC C T Nonsense p.R417* c.1249C>T 18 51818253 BLCA C T Synonymous p.S589S c.1767C>T 18 51820381 CM G A Missense p.A726T c.2176G>A 18 51820790 GBM G A Missense p.G180S c.538G>A 18 51804204 MB G A Missense p.R284H c.851G>A 18 51809261 RCCC G A Missense p.R305H c.914G>A 18 51809324 GBM G A Missense p.R372H c.1115G>A 18 51813698 UCEC G A Missense p.S617N c.1850G>A 18 51820464 CM G A Synonymous p.Q395Q c.1185G>A 18 51813768 STAD G C Missense p.R53T c.158G>C 18 51797772 OV G - Frameshift p.G322Dfs*33 c.965delG 18 51809374 RCCC G T Missense p.R382L c.1145G>T 18 51813728 LUSC G T Missense p.V117L c.349G>T 18 51800403 HNSC G T Nonsense p.E501* c.1501G>T 18 51820115 LUAD T C 3-UTRSNV . c.2220+55T>C 18 51820889 CM T C Missense p.V404A c.1211T>C 18 51818215 UCEC T C Synonymous p.C113C c.339T>C 18 51800393 UCEC T C Synonymous p.S612S c.1836T>C 18 51820450 CM T G Missense p.I411R c.1232T>G 18 51818236 MM T G Missense p.Y714D c.2140T>G 18 51820754 BRCA