Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 86890618 86890618 + Missense_Mutation SNP T T A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chrX:86890618T>A c.1768T>A c.(1768-1770)Ttt>Att p.F590I BLCA 23 86772965 86772965 + Silent SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 g.chrX:86772965T>C c.69T>C c.(67-69)agT>agC p.S23S BLCA 23 86773151 86773151 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chrX:86773151G>C c.255G>C c.(253-255)caG>caC p.Q85H BLCA 23 86773256 86773256 + Silent SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chrX:86773256T>C c.360T>C c.(358-360)tgT>tgC p.C120C BLCA 23 86868916 86868916 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chrX:86868916C>T c.459C>T c.(457-459)acC>acT p.T153T BLCA 23 86869502 86869502 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chrX:86869502A>G c.656A>G c.(655-657)aAa>aGa p.K219R BLCA 23 86877261 86877261 + Silent SNP T T A TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chrX:86877261T>A c.975T>A c.(973-975)gcT>gcA p.A325A BLCA 23 86880669 86880669 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chrX:86880669C>G c.1197C>G c.(1195-1197)ctC>ctG p.L399L BLCA 23 86887267 86887267 + Missense_Mutation SNP C C A TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chrX:86887267C>A c.1382C>A c.(1381-1383)aCc>aAc p.T461N BLCA 23 86890751 86890751 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chrX:86890751C>G c.1901C>G c.(1900-1902)tCc>tGc p.S634C BRCA 23 86772968 86772968 + Missense_Mutation SNP T T A TCGA-AR-A24U-01A-11D-A167-09 TCGA-AR-A24U-10A-01D-A167-09 g.chrX:86772968T>A c.72T>A c.(70-72)caT>caA p.H24Q BRCA 23 86773201 86773201 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chrX:86773201C>G c.305C>G c.(304-306)gCa>gGa p.A102G BRCA 23 86869457 86869457 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chrX:86869457C>A c.611C>A c.(610-612)tCt>tAt p.S204Y BRCA 23 86877241 86877241 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:86877241G>T c.955G>T c.(955-957)Gaa>Taa p.E319* BRCA 23 86880629 86880629 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 g.chrX:86880629C>A c.1157C>A c.(1156-1158)aCc>aAc p.T386N BRCA 23 86887332 86887332 + Missense_Mutation SNP G G A TCGA-BH-A0EI-01A-11D-A10Y-09 TCGA-BH-A0EI-10A-01D-A110-09 g.chrX:86887332G>A c.1447G>A c.(1447-1449)Gga>Aga p.G483R BRCA 23 86888818 86888818 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chrX:86888818T>C c.1619T>C c.(1618-1620)gTa>gCa p.V540A CESC 23 86772953 86772953 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chrX:86772953G>C c.57G>C c.(55-57)tgG>tgC p.W19C CESC 23 86772994 86772994 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chrX:86772994G>A c.98G>A c.(97-99)gGa>gAa p.G33E CESC 23 86868950 86868950 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 g.chrX:86868950G>A c.493G>A c.(493-495)Gca>Aca p.A165T CESC 23 86869044 86869044 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:86869044A>G c.587A>G c.(586-588)cAt>cGt p.H196R CESC 23 86873003 86873003 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chrX:86873003C>G c.796C>G c.(796-798)Cag>Gag p.Q266E CESC 23 86873030 86873030 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chrX:86873030C>T c.823C>T c.(823-825)Ctc>Ttc p.L275F CESC 23 86890562 86890562 + Splice_Site SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 g.chrX:86890562G>T c.e9-1 CESC 23 86890703 86890703 + Missense_Mutation SNP T T A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chrX:86890703T>A c.1853T>A c.(1852-1854)tTc>tAc p.F618Y COAD 23 86772939 86772939 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:86772939C>A c.43C>A c.(43-45)Cta>Ata p.L15I COAD 23 86773015 86773015 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chrX:86773015G>A c.119G>A c.(118-120)gGa>gAa p.G40E COAD 23 86773066 86773066 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chrX:86773066G>A c.170G>A c.(169-171)cGg>cAg p.R57Q COAD 23 86773085 86773086 + Frame_Shift_Ins INS - - A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:86773085_86773086insA c.189_190insA c.(190-192)aaafs p.K64fs COAD 23 86773090 86773090 + Missense_Mutation SNP G G T TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chrX:86773090G>T c.194G>T c.(193-195)aGc>aTc p.S65I COAD 23 86773151 86773151 + Missense_Mutation SNP G G T TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chrX:86773151G>T c.255G>T c.(253-255)caG>caT p.Q85H COAD 23 86773204 86773204 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:86773204A>G c.308A>G c.(307-309)aAt>aGt p.N103S COAD 23 86773221 86773221 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chrX:86773221T>C c.325T>C c.(325-327)Tca>Cca p.S109P COAD 23 86873008 86873008 + Silent SNP C C G TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:86873008C>G c.801C>G c.(799-801)gtC>gtG p.V267V COAD 23 86873050 86873050 + Silent SNP T T C TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chrX:86873050T>C c.843T>C c.(841-843)ccT>ccC p.P281P COAD 23 86873050 86873050 + Silent SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chrX:86873050T>C c.843T>C c.(841-843)ccT>ccC p.P281P COAD 23 86873050 86873050 + Silent SNP T T C TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chrX:86873050T>C c.843T>C c.(841-843)ccT>ccC p.P281P COAD 23 86873111 86873111 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:86873111G>A c.904G>A c.(904-906)Gtg>Atg p.V302M COAD 23 86877329 86877329 + Missense_Mutation SNP C C T TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chrX:86877329C>T c.1043C>T c.(1042-1044)gCt>gTt p.A348V COAD 23 86880632 86880632 + Missense_Mutation SNP G G T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chrX:86880632G>T c.1160G>T c.(1159-1161)aGt>aTt p.S387I COAD 23 86880673 86880673 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:86880673A>G c.1201A>G c.(1201-1203)Atg>Gtg p.M401V COAD 23 86880675 86880675 + Missense_Mutation SNP G G A TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chrX:86880675G>A c.1203G>A c.(1201-1203)atG>atA p.M401I COAD 23 86880694 86880694 + Missense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chrX:86880694C>A c.1222C>A c.(1222-1224)Ctt>Att p.L408I COAD 23 86887279 86887279 + Missense_Mutation SNP G G A TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chrX:86887279G>A c.1394G>A c.(1393-1395)cGt>cAt p.R465H COAD 23 86887326 86887326 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chrX:86887326G>A c.1441G>A c.(1441-1443)Gtg>Atg p.V481M COAD 23 86887340 86887340 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:86887340C>T c.1455C>T c.(1453-1455)gaC>gaT p.D485D COAD 23 86887341 86887341 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:86887341G>A c.1456G>A c.(1456-1458)Ggt>Agt p.G486S COAD 23 86887358 86887358 + Missense_Mutation SNP T T A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chrX:86887358T>A c.1473T>A c.(1471-1473)aaT>aaA p.N491K COAD 23 86888768 86888768 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:86888768A>G c.1569A>G c.(1567-1569)ggA>ggG p.G523G COAD 23 86888777 86888777 + Silent SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:86888777T>C c.1578T>C c.(1576-1578)taT>taC p.Y526Y COAD 23 86888870 86888870 + Silent SNP A A C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chrX:86888870A>C c.1671A>C c.(1669-1671)tcA>tcC p.S557S COAD 23 86890682 86890682 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:86890682G>T c.1832G>T c.(1831-1833)gGa>gTa p.G611V COAD 23 86890688 86890688 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:86890688C>T c.1838C>T c.(1837-1839)gCc>gTc p.A613V COAD 23 86890729 86890729 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:86890729G>A c.1879G>A c.(1879-1881)Gcc>Acc p.A627T COAD 23 86919825 86919825 + Missense_Mutation SNP G G C TCGA-F4-6805-01A-11D-1835-10 TCGA-F4-6805-10A-01D-1835-10 g.chrX:86919825G>C c.1987G>C c.(1987-1989)Gtt>Ctt p.V663L COAD 23 86919877 86919877 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:86919877G>A c.2039G>A c.(2038-2040)gGa>gAa p.G680E COAD 23 86919934 86919934 + Splice_Site SNP A A C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chrX:86919934A>C c.2096A>C c.(2095-2097)gAg>gCg p.E699A COADREAD 23 86772920 86772920 + Missense_Mutation SNP G G C TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chrX:86772920G>C c.24G>C c.(22-24)gaG>gaC p.E8D COADREAD 23 86772939 86772939 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:86772939C>A c.43C>A c.(43-45)Cta>Ata p.L15I COADREAD 23 86772949 86772949 + Missense_Mutation SNP G G A TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chrX:86772949G>A c.53G>A c.(52-54)cGc>cAc p.R18H COADREAD 23 86773015 86773015 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chrX:86773015G>A c.119G>A c.(118-120)gGa>gAa p.G40E COADREAD 23 86773066 86773066 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chrX:86773066G>A c.170G>A c.(169-171)cGg>cAg p.R57Q COADREAD 23 86773085 86773086 + Frame_Shift_Ins INS - - A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:86773085_86773086insA c.189_190insA c.(190-192)aaafs p.K64fs COADREAD 23 86773090 86773090 + Missense_Mutation SNP G G T TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chrX:86773090G>T c.194G>T c.(193-195)aGc>aTc p.S65I COADREAD 23 86773151 86773151 + Missense_Mutation SNP G G T TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chrX:86773151G>T c.255G>T c.(253-255)caG>caT p.Q85H COADREAD 23 86773204 86773204 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chrX:86773204A>G c.308A>G c.(307-309)aAt>aGt p.N103S COADREAD 23 86773221 86773221 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chrX:86773221T>C c.325T>C c.(325-327)Tca>Cca p.S109P COADREAD 23 86773235 86773235 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:86773235G>T c.339G>T c.(337-339)aaG>aaT p.K113N COADREAD 23 86869032 86869032 + Missense_Mutation SNP G G A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chrX:86869032G>A c.575G>A c.(574-576)cGc>cAc p.R192H COADREAD 23 86873008 86873008 + Silent SNP C C G TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:86873008C>G c.801C>G c.(799-801)gtC>gtG p.V267V COADREAD 23 86873048 86873048 + Missense_Mutation SNP C C A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chrX:86873048C>A c.841C>A c.(841-843)Cct>Act p.P281T COADREAD 23 86873050 86873050 + Silent SNP T T C TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chrX:86873050T>C c.843T>C c.(841-843)ccT>ccC p.P281P COADREAD 23 86873050 86873050 + Silent SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chrX:86873050T>C c.843T>C c.(841-843)ccT>ccC p.P281P COADREAD 23 86873050 86873050 + Silent SNP T T C TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chrX:86873050T>C c.843T>C c.(841-843)ccT>ccC p.P281P COADREAD 23 86873111 86873111 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:86873111G>A c.904G>A c.(904-906)Gtg>Atg p.V302M COADREAD 23 86877231 86877231 + Frame_Shift_Del DEL A A - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chrX:86877231delA c.945delA c.(943-945)atafs p.I315fs COADREAD 23 86877329 86877329 + Missense_Mutation SNP C C T TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chrX:86877329C>T c.1043C>T c.(1042-1044)gCt>gTt p.A348V COADREAD 23 86880632 86880632 + Missense_Mutation SNP G G T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chrX:86880632G>T c.1160G>T c.(1159-1161)aGt>aTt p.S387I COADREAD 23 86880673 86880673 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chrX:86880673A>G c.1201A>G c.(1201-1203)Atg>Gtg p.M401V COADREAD 23 86880675 86880675 + Missense_Mutation SNP G G A TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chrX:86880675G>A c.1203G>A c.(1201-1203)atG>atA p.M401I COADREAD 23 86880694 86880694 + Missense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chrX:86880694C>A c.1222C>A c.(1222-1224)Ctt>Att p.L408I COADREAD 23 86887279 86887279 + Missense_Mutation SNP G G A TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chrX:86887279G>A c.1394G>A c.(1393-1395)cGt>cAt p.R465H COADREAD 23 86887326 86887326 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chrX:86887326G>A c.1441G>A c.(1441-1443)Gtg>Atg p.V481M COADREAD 23 86887340 86887340 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:86887340C>T c.1455C>T c.(1453-1455)gaC>gaT p.D485D COADREAD 23 86887341 86887341 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:86887341G>A c.1456G>A c.(1456-1458)Ggt>Agt p.G486S COADREAD 23 86887358 86887358 + Missense_Mutation SNP T T A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chrX:86887358T>A c.1473T>A c.(1471-1473)aaT>aaA p.N491K COADREAD 23 86887365 86887365 + Missense_Mutation SNP G G A TCGA-AG-3594-01A-02W-0831-10 TCGA-AG-3594-10A-01W-0831-10 g.chrX:86887365G>A c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K COADREAD 23 86888768 86888768 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:86888768A>G c.1569A>G c.(1567-1569)ggA>ggG p.G523G COADREAD 23 86888777 86888777 + Silent SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:86888777T>C c.1578T>C c.(1576-1578)taT>taC p.Y526Y COADREAD 23 86888868 86888868 + Missense_Mutation SNP T T C TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chrX:86888868T>C c.1669T>C c.(1669-1671)Tca>Cca p.S557P COADREAD 23 86888870 86888870 + Silent SNP A A C TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chrX:86888870A>C c.1671A>C c.(1669-1671)tcA>tcC p.S557S COADREAD 23 86890682 86890682 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chrX:86890682G>T c.1832G>T c.(1831-1833)gGa>gTa p.G611V COADREAD 23 86890688 86890688 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:86890688C>T c.1838C>T c.(1837-1839)gCc>gTc p.A613V COADREAD 23 86890729 86890729 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chrX:86890729G>A c.1879G>A c.(1879-1881)Gcc>Acc p.A627T COADREAD 23 86919825 86919825 + Missense_Mutation SNP G G C TCGA-F4-6805-01A-11D-1835-10 TCGA-F4-6805-10A-01D-1835-10 g.chrX:86919825G>C c.1987G>C c.(1987-1989)Gtt>Ctt p.V663L COADREAD 23 86919877 86919877 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:86919877G>A c.2039G>A c.(2038-2040)gGa>gAa p.G680E COADREAD 23 86919934 86919934 + Splice_Site SNP A A C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chrX:86919934A>C c.2096A>C c.(2095-2097)gAg>gCg p.E699A ESCA 23 86772933 86772933 + Nonsense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chrX:86772933C>T c.37C>T c.(37-39)Cag>Tag p.Q13* ESCA 23 86873036 86873036 + Nonsense_Mutation SNP A A T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chrX:86873036A>T c.829A>T c.(829-831)Aag>Tag p.K277* ESCA 23 86880713 86880713 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chrX:86880713C>G c.1241C>G c.(1240-1242)tCc>tGc p.S414C GBM 23 86873003 86873003 + Nonsense_Mutation SNP C C T TCGA-06-0122-01A-01D-1490-08 TCGA-06-0122-10A-01D-1490-08 g.chrX:86873003C>T c.796C>T c.(796-798)Cag>Tag p.Q266* GBM 23 86887278 86887278 + Missense_Mutation SNP C C A TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chrX:86887278C>A c.1393C>A c.(1393-1395)Cgt>Agt p.R465S GBM 23 86890583 86890583 + Missense_Mutation SNP G G A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chrX:86890583G>A c.1733G>A c.(1732-1734)cGt>cAt p.R578H GBMLGG 23 86873003 86873003 + Nonsense_Mutation SNP C C T TCGA-06-0122-01A-01D-1490-08 TCGA-06-0122-10A-01D-1490-08 g.chrX:86873003C>T c.796C>T c.(796-798)Cag>Tag p.Q266* GBMLGG 23 86887278 86887278 + Missense_Mutation SNP C C A TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chrX:86887278C>A c.1393C>A c.(1393-1395)Cgt>Agt p.R465S GBMLGG 23 86890583 86890583 + Missense_Mutation SNP G G A TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chrX:86890583G>A c.1733G>A c.(1732-1734)cGt>cAt p.R578H GBMLGG 23 86890607 86890607 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:86890607C>T c.1757C>T c.(1756-1758)tCa>tTa p.S586L HNSC 23 86772938 86772938 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chrX:86772938C>A c.42C>A c.(40-42)atC>atA p.I14I HNSC 23 86773015 86773015 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:86773015G>A c.119G>A c.(118-120)gGa>gAa p.G40E HNSC 23 86773057 86773057 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chrX:86773057G>T c.161G>T c.(160-162)aGc>aTc p.S54I HNSC 23 86773076 86773076 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chrX:86773076C>T c.180C>T c.(178-180)aaC>aaT p.N60N HNSC 23 86773132 86773132 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chrX:86773132G>T c.236G>T c.(235-237)gGa>gTa p.G79V HNSC 23 86773151 86773151 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chrX:86773151G>A c.255G>A c.(253-255)caG>caA p.Q85Q HNSC 23 86873048 86873048 + Missense_Mutation SNP C C T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chrX:86873048C>T c.841C>T c.(841-843)Cct>Tct p.P281S HNSC 23 86873069 86873069 + Nonsense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chrX:86873069C>T c.862C>T c.(862-864)Cga>Tga p.R288* HNSC 23 86877360 86877360 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chrX:86877360G>T c.1074G>T c.(1072-1074)caG>caT p.Q358H HNSC 23 86877396 86877396 + Nonsense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 g.chrX:86877396C>A c.1110C>A c.(1108-1110)taC>taA p.Y370* HNSC 23 86880613 86880613 + Missense_Mutation SNP C C A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 g.chrX:86880613C>A c.1141C>A c.(1141-1143)Ctg>Atg p.L381M HNSC 23 86887271 86887271 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chrX:86887271G>A c.1386G>A c.(1384-1386)atG>atA p.M462I HNSC 23 86887299 86887299 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:86887299G>A c.1414G>A c.(1414-1416)Gca>Aca p.A472T HNSC 23 86887360 86887360 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chrX:86887360C>G c.1475C>G c.(1474-1476)aCa>aGa p.T492R HNSC 23 86888820 86888820 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chrX:86888820G>A c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K HNSC 23 86888860 86888860 + Missense_Mutation SNP C C T TCGA-P3-A6SX-01A-11D-A34J-08 TCGA-P3-A6SX-10A-01D-A34M-08 g.chrX:86888860C>T c.1661C>T c.(1660-1662)gCc>gTc p.A554V HNSC 23 86890582 86890582 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chrX:86890582C>T c.1732C>T c.(1732-1734)Cgt>Tgt p.R578C HNSC 23 86890598 86890598 + Missense_Mutation SNP G G T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 g.chrX:86890598G>T c.1748G>T c.(1747-1749)tGc>tTc p.C583F HNSC 23 86890739 86890739 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chrX:86890739C>T c.1889C>T c.(1888-1890)tCc>tTc p.S630F HNSC 23 86890748 86890754 + Frame_Shift_Del DEL GCTCCAG GCTCCAG - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chrX:86890748_86890754delGCTCCAG c.1898_1904delGCTCCAG c.(1897-1905)tgctccaggfs p.CSR633fs HNSC 23 86919875 86919875 + Missense_Mutation SNP C C A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chrX:86919875C>A c.2037C>A c.(2035-2037)gaC>gaA p.D679E HNSC 23 86919890 86919890 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chrX:86919890G>A c.2052G>A c.(2050-2052)ttG>ttA p.L684L HNSC 23 86919900 86919900 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chrX:86919900G>C c.2062G>C c.(2062-2064)Gag>Cag p.E688Q HNSC 23 86919928 86919928 + Nonsense_Mutation SNP G G A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chrX:86919928G>A c.2090G>A c.(2089-2091)tGg>tAg p.W697* KIPAN 23 86773063 86773063 + Missense_Mutation SNP C C G TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chrX:86773063C>G c.167C>G c.(166-168)tCt>tGt p.S56C KIPAN 23 86890699 86890699 + Missense_Mutation SNP G G A TCGA-BP-5199-01A-01D-1429-08 TCGA-BP-5199-11A-01D-1429-08 g.chrX:86890699G>A c.1849G>A c.(1849-1851)Gga>Aga p.G617R KIPAN 23 86921522 86921522 + Silent SNP G G T TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chrX:86921522G>T c.2145G>T c.(2143-2145)gtG>gtT p.V715V KIRC 23 86890699 86890699 + Missense_Mutation SNP G G A TCGA-BP-5199-01A-01D-1429-08 TCGA-BP-5199-11A-01D-1429-08 g.chrX:86890699G>A c.1849G>A c.(1849-1851)Gga>Aga p.G617R KIRC 23 86921522 86921522 + Silent SNP G G T TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chrX:86921522G>T c.2145G>T c.(2143-2145)gtG>gtT p.V715V KIRP 23 86773063 86773063 + Missense_Mutation SNP C C G TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chrX:86773063C>G c.167C>G c.(166-168)tCt>tGt p.S56C LAML 23 86773292 86773292 + Silent SNP T T C TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 g.chrX:86773292T>C c.396T>C c.(394-396)gaT>gaC p.D132D LGG 23 86890607 86890607 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:86890607C>T c.1757C>T c.(1756-1758)tCa>tTa p.S586L LIHC 23 86873049 86873049 + Missense_Mutation SNP C C A TCGA-CC-5259-01A-31D-A20W-10 TCGA-CC-5259-10A-01D-A20W-10 g.chrX:86873049C>A c.842C>A c.(841-843)cCt>cAt p.P281H LIHC 23 86877225 86877225 + Missense_Mutation SNP G G T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chrX:86877225G>T c.939G>T c.(937-939)gaG>gaT p.E313D LIHC 23 86877345 86877345 + Silent SNP G G T TCGA-MI-A75H-01A-11D-A32G-10 TCGA-MI-A75H-10A-01D-A32G-10 g.chrX:86877345G>T c.1059G>T c.(1057-1059)gtG>gtT p.V353V LIHC 23 86887268 86887268 + Silent SNP C C T TCGA-DD-AAE0-01A-11D-A40R-10 TCGA-DD-AAE0-10A-01D-A40U-10 g.chrX:86887268C>T c.1383C>T c.(1381-1383)acC>acT p.T461T LUAD 23 86772935 86772935 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chrX:86772935G>C c.39G>C c.(37-39)caG>caC p.Q13H LUAD 23 86773015 86773015 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chrX:86773015G>T c.119G>T c.(118-120)gGa>gTa p.G40V LUAD 23 86773043 86773043 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chrX:86773043G>T c.147G>T c.(145-147)caG>caT p.Q49H LUAD 23 86773044 86773044 + Missense_Mutation SNP G G C TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chrX:86773044G>C c.148G>C c.(148-150)Ggc>Cgc p.G50R LUAD 23 86773109 86773109 + Missense_Mutation SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chrX:86773109C>A c.213C>A c.(211-213)caC>caA p.H71Q LUAD 23 86773139 86773139 + Silent SNP C C A TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chrX:86773139C>A c.243C>A c.(241-243)gcC>gcA p.A81A LUAD 23 86773170 86773170 + Missense_Mutation SNP C C A TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chrX:86773170C>A c.274C>A c.(274-276)Cag>Aag p.Q92K LUAD 23 86773224 86773224 + Missense_Mutation SNP G G T TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chrX:86773224G>T c.328G>T c.(328-330)Gtt>Ttt p.V110F LUAD 23 86773270 86773270 + Missense_Mutation SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chrX:86773270A>G c.374A>G c.(373-375)cAa>cGa p.Q125R LUAD 23 86868907 86868907 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chrX:86868907G>C c.450G>C c.(448-450)atG>atC p.M150I LUAD 23 86868947 86868947 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chrX:86868947C>A c.490C>A c.(490-492)Cac>Aac p.H164N LUAD 23 86868949 86868949 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chrX:86868949C>A c.492C>A c.(490-492)caC>caA p.H164Q LUAD 23 86869441 86869441 + Missense_Mutation SNP G G T TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chrX:86869441G>T c.595G>T c.(595-597)Gtt>Ttt p.V199F LUAD 23 86869504 86869504 + Missense_Mutation SNP C C A TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chrX:86869504C>A c.658C>A c.(658-660)Caa>Aaa p.Q220K LUAD 23 86869526 86869526 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 g.chrX:86869526G>C c.680G>C c.(679-681)gGa>gCa p.G227A LUAD 23 86869563 86869563 + Nonsense_Mutation SNP T T G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chrX:86869563T>G c.717T>G c.(715-717)taT>taG p.Y239* LUAD 23 86872977 86872977 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chrX:86872977C>A c.770C>A c.(769-771)gCt>gAt p.A257D LUAD 23 86872999 86872999 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chrX:86872999G>T c.792G>T c.(790-792)ctG>ctT p.L264L LUAD 23 86877246 86877246 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chrX:86877246C>A c.960C>A c.(958-960)ttC>ttA p.F320L LUAD 23 86877260 86877260 + Missense_Mutation SNP C C T TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chrX:86877260C>T c.974C>T c.(973-975)gCt>gTt p.A325V LUAD 23 86877364 86877364 + Missense_Mutation SNP A A T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chrX:86877364A>T c.1078A>T c.(1078-1080)Agg>Tgg p.R360W LUAD 23 86877378 86877378 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chrX:86877378G>T c.1092G>T c.(1090-1092)ctG>ctT p.L364L LUAD 23 86877411 86877411 + Missense_Mutation SNP A A C TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chrX:86877411A>C c.1125A>C c.(1123-1125)ttA>ttC p.L375F LUAD 23 86880684 86880684 + Missense_Mutation SNP G G A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chrX:86880684G>A c.1212G>A c.(1210-1212)atG>atA p.M404I LUAD 23 86880703 86880703 + Nonsense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chrX:86880703G>T c.1231G>T c.(1231-1233)Gag>Tag p.E411* LUAD 23 86880719 86880719 + Missense_Mutation SNP T T C TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chrX:86880719T>C c.1247T>C c.(1246-1248)aTg>aCg p.M416T LUAD 23 86880730 86880730 + Silent SNP C C A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chrX:86880730C>A c.1258C>A c.(1258-1260)Cgg>Agg p.R420R LUAD 23 86880772 86880772 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chrX:86880772G>C c.1300G>C c.(1300-1302)Gta>Cta p.V434L LUAD 23 86887275 86887275 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chrX:86887275G>T c.1390G>T c.(1390-1392)Ggc>Tgc p.G464C LUAD 23 86887308 86887308 + Missense_Mutation SNP G G C TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chrX:86887308G>C c.1423G>C c.(1423-1425)Gat>Cat p.D475H LUAD 23 86887407 86887407 + Missense_Mutation SNP C C G TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chrX:86887407C>G c.1522C>G c.(1522-1524)Ccc>Gcc p.P508A LUAD 23 86888867 86888867 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chrX:86888867G>A c.1668G>A c.(1666-1668)atG>atA p.M556I LUAD 23 86888884 86888884 + Missense_Mutation SNP C C A TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chrX:86888884C>A c.1685C>A c.(1684-1686)aCa>aAa p.T562K LUAD 23 86888890 86888890 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chrX:86888890G>C c.1691G>C c.(1690-1692)gGt>gCt p.G564A LUAD 23 86888891 86888891 + Silent SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chrX:86888891T>A c.1692T>A c.(1690-1692)ggT>ggA p.G564G LUAD 23 86888896 86888896 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chrX:86888896T>A c.1697T>A c.(1696-1698)gTt>gAt p.V566D LUAD 23 86890577 86890578 + Frame_Shift_Ins INS - - T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chrX:86890577_86890578insT c.1727_1728insT c.(1726-1731)ggtggafs p.G577fs LUAD 23 86890717 86890717 + Frame_Shift_Del DEL G G - TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chrX:86890717delG c.1867delG c.(1867-1869)gggfs p.G624fs LUAD 23 86890732 86890732 + Missense_Mutation SNP C C T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chrX:86890732C>T c.1882C>T c.(1882-1884)Cct>Tct p.P628S LUAD 23 86919909 86919909 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chrX:86919909G>T c.2071G>T c.(2071-2073)Gat>Tat p.D691Y LUAD 23 86921487 86921487 + Missense_Mutation SNP A A G TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chrX:86921487A>G c.2110A>G c.(2110-2112)Aac>Gac p.N704D LUAD 23 86921526 86921526 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chrX:86921526C>A c.2149C>A c.(2149-2151)Cta>Ata p.L717I LUAD 23 86924389 86924389 + 3'UTR SNP C C A TCGA-50-6597-01A-11D-1855-08 TCGA-50-6597-10A-01D-1855-08 g.chrX:86924389C>A LUSC 23 86773049 86773049 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chrX:86773049G>T c.153G>T c.(151-153)agG>agT p.R51S LUSC 23 86773098 86773098 + Missense_Mutation SNP C C A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chrX:86773098C>A c.202C>A c.(202-204)Cct>Act p.P68T LUSC 23 86869436 86869436 + Splice_Site SNP G G T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chrX:86869436G>T c.e3-1 LUSC 23 86869560 86869560 + Missense_Mutation SNP G G T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chrX:86869560G>T c.714G>T c.(712-714)caG>caT p.Q238H LUSC 23 86887307 86887307 + Missense_Mutation SNP T T G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chrX:86887307T>G c.1422T>G c.(1420-1422)atT>atG p.I474M LUSC 23 86888805 86888805 + Missense_Mutation SNP T T A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chrX:86888805T>A c.1606T>A c.(1606-1608)Tat>Aat p.Y536N LUSC 23 86888827 86888827 + Missense_Mutation SNP G G T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chrX:86888827G>T c.1628G>T c.(1627-1629)tGg>tTg p.W543L LUSC 23 86890576 86890576 + Missense_Mutation SNP G G T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chrX:86890576G>T c.1726G>T c.(1726-1728)Ggt>Tgt p.G576C LUSC 23 86919919 86919919 + Missense_Mutation SNP G G T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 g.chrX:86919919G>T c.2081G>T c.(2080-2082)aGa>aTa p.R694I OV 23 86873049 86873049 + Missense_Mutation SNP C C A TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 g.chrX:86873049C>A c.842C>A c.(841-843)cCt>cAt p.P281H OV 23 86888775 86888775 + Missense_Mutation SNP T T A TCGA-24-1603-01A-01W-0551-08 TCGA-24-1603-10A-01W-0551-08 g.chrX:86888775T>A c.1576T>A c.(1576-1578)Tat>Aat p.Y526N PRAD 23 86887270 86887270 + Missense_Mutation SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 g.chrX:86887270T>C c.1385T>C c.(1384-1386)aTg>aCg p.M462T PRAD 23 86888856 86888856 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 g.chrX:86888856G>A c.1657G>A c.(1657-1659)Gta>Ata p.V553I PRAD 23 86919798 86919798 + Missense_Mutation SNP G G C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 g.chrX:86919798G>C c.1960G>C c.(1960-1962)Gca>Cca p.A654P READ 23 86772920 86772920 + Missense_Mutation SNP G G C TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chrX:86772920G>C c.24G>C c.(22-24)gaG>gaC p.E8D READ 23 86772949 86772949 + Missense_Mutation SNP G G A TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chrX:86772949G>A c.53G>A c.(52-54)cGc>cAc p.R18H READ 23 86773235 86773235 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chrX:86773235G>T c.339G>T c.(337-339)aaG>aaT p.K113N READ 23 86869032 86869032 + Missense_Mutation SNP G G A TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chrX:86869032G>A c.575G>A c.(574-576)cGc>cAc p.R192H READ 23 86873048 86873048 + Missense_Mutation SNP C C A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chrX:86873048C>A c.841C>A c.(841-843)Cct>Act p.P281T READ 23 86877231 86877231 + Frame_Shift_Del DEL A A - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chrX:86877231delA c.945delA c.(943-945)atafs p.I315fs READ 23 86887365 86887365 + Missense_Mutation SNP G G A TCGA-AG-3594-01A-02W-0831-10 TCGA-AG-3594-10A-01W-0831-10 g.chrX:86887365G>A c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K READ 23 86888868 86888868 + Missense_Mutation SNP T T C TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chrX:86888868T>C c.1669T>C c.(1669-1671)Tca>Cca p.S557P SARC 23 86890736 86890736 + Missense_Mutation SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 g.chrX:86890736C>A c.1886C>A c.(1885-1887)gCt>gAt p.A629D SKCM 23 86772918 86772918 + Missense_Mutation SNP G G A TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chrX:86772918G>A c.22G>A c.(22-24)Gag>Aag p.E8K SKCM 23 86772938 86772938 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chrX:86772938C>T c.42C>T c.(40-42)atC>atT p.I14I SKCM 23 86772958 86772958 + Nonsense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:86772958G>A c.62G>A c.(61-63)tGg>tAg p.W21* SKCM 23 86772975 86772975 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:86772975C>T c.79C>T c.(79-81)Caa>Taa p.Q27* SKCM 23 86773011 86773011 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chrX:86773011G>A c.115G>A c.(115-117)Gaa>Aaa p.E39K SKCM 23 86868974 86868974 + Missense_Mutation SNP G G A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chrX:86868974G>A c.517G>A c.(517-519)Gag>Aag p.E173K SKCM 23 86868978 86868978 + Missense_Mutation SNP A A G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chrX:86868978A>G c.521A>G c.(520-522)aAc>aGc p.N174S SKCM 23 86869004 86869004 + Missense_Mutation SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chrX:86869004G>A c.547G>A c.(547-549)Gat>Aat p.D183N SKCM 23 86869444 86869444 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chrX:86869444C>T c.598C>T c.(598-600)Ctc>Ttc p.L200F SKCM 23 86869513 86869513 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:86869513G>A c.667G>A c.(667-669)Gtc>Atc p.V223I SKCM 23 86869525 86869525 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chrX:86869525G>A c.679G>A c.(679-681)Gga>Aga p.G227R SKCM 23 86869550 86869550 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chrX:86869550C>T c.704C>T c.(703-705)tCc>tTc p.S235F SKCM 23 86873070 86873070 + Missense_Mutation SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chrX:86873070G>A c.863G>A c.(862-864)cGa>cAa p.R288Q SKCM 23 86877370 86877370 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chrX:86877370G>A c.1084G>A c.(1084-1086)Gga>Aga p.G362R SKCM 23 86880625 86880625 + Nonsense_Mutation SNP G G T TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chrX:86880625G>T c.1153G>T c.(1153-1155)Gaa>Taa p.E385* SKCM 23 86880675 86880675 + Missense_Mutation SNP G G A TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chrX:86880675G>A c.1203G>A c.(1201-1203)atG>atA p.M401I SKCM 23 86880700 86880700 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chrX:86880700C>T c.1228C>T c.(1228-1230)Cct>Tct p.P410S SKCM 23 86880701 86880701 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chrX:86880701C>T c.1229C>T c.(1228-1230)cCt>cTt p.P410L SKCM 23 86887243 86887243 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chrX:86887243C>T c.1358C>T c.(1357-1359)aCc>aTc p.T453I SKCM 23 86887260 86887260 + Missense_Mutation SNP A A C TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chrX:86887260A>C c.1375A>C c.(1375-1377)Att>Ctt p.I459L SKCM 23 86887277 86887277 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:86887277C>T c.1392C>T c.(1390-1392)ggC>ggT p.G464G SKCM 23 86887278 86887278 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:86887278C>T c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C SKCM 23 86887330 86887330 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chrX:86887330G>A c.1445G>A c.(1444-1446)gGa>gAa p.G482E SKCM 23 86887333 86887333 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chrX:86887333G>A c.1448G>A c.(1447-1449)gGa>gAa p.G483E SKCM 23 86888766 86888766 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chrX:86888766G>A c.1567G>A c.(1567-1569)Gga>Aga p.G523R SKCM 23 86888766 86888766 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chrX:86888766G>A c.1567G>A c.(1567-1569)Gga>Aga p.G523R SKCM 23 86888817 86888817 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chrX:86888817G>T c.1618G>T c.(1618-1620)Gta>Tta p.V540L SKCM 23 86890589 86890589 + Missense_Mutation SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chrX:86890589G>A c.1739G>A c.(1738-1740)gGa>gAa p.G580E SKCM 23 86890621 86890621 + Missense_Mutation SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chrX:86890621G>A c.1771G>A c.(1771-1773)Gac>Aac p.D591N SKCM 23 86890673 86890673 + Missense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chrX:86890673G>A c.1823G>A c.(1822-1824)gGa>gAa p.G608E SKCM 23 86890699 86890699 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chrX:86890699G>A c.1849G>A c.(1849-1851)Gga>Aga p.G617R SKCM 23 86890731 86890731 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrX:86890731C>T c.1881C>T c.(1879-1881)gcC>gcT p.A627A SKCM 23 86921475 86921475 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chrX:86921475G>A c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K

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 X 86869502 86869502 single base substitution A G missense_variant K219R 656A>G BOCA-FR X 86812527 86812527 single base substitution C T intron_variant BOCA-FR X 86826748 86826748 single base substitution G T intron_variant BOCA-FR X 86829619 86829619 single base substitution G A intron_variant BOCA-FR X 86851718 86851718 single base substitution C G intron_variant BOCA-FR X 86869268 86869268 single base substitution A T intron_variant BOCA-FR X 86884184 86884184 single base substitution C T intron_variant BOCA-FR X 86890427 86890427 single base substitution T A intron_variant BOCA-FR X 86921532 86921532 single base substitution T A intron_variant BOCA-FR X 86921532 86921532 single base substitution T A stop_lost *719K 2155T>A BRCA-EU X 86767846 86767846 single base substitution C T upstream_gene_variant BRCA-EU X 86769748 86769748 single base substitution C G upstream_gene_variant BRCA-EU X 86771466 86771466 single base substitution T A upstream_gene_variant BRCA-EU X 86772272 86772272 single base substitution C A upstream_gene_variant BRCA-EU X 86773349 86773349 single base substitution C G intron_variant BRCA-EU X 86773771 86773771 single base substitution C T intron_variant BRCA-EU X 86774972 86774972 single base substitution G A intron_variant BRCA-EU X 86776642 86776642 single base substitution A G intron_variant BRCA-EU X 86776789 86776789 single base substitution C A intron_variant BRCA-EU X 86777072 86777072 single base substitution C T intron_variant BRCA-EU X 86777095 86777095 single base substitution G A intron_variant BRCA-EU X 86777214 86777214 single base substitution G T intron_variant BRCA-EU X 86777307 86777307 single base substitution G A intron_variant BRCA-EU X 86777767 86777767 single base substitution A T intron_variant BRCA-EU X 86778953 86778953 single base substitution G A intron_variant BRCA-EU X 86779427 86779427 single base substitution T C intron_variant BRCA-EU X 86779546 86779546 single base substitution C A intron_variant BRCA-EU X 86780186 86780186 single base substitution C A intron_variant BRCA-EU X 86782375 86782375 single base substitution G C intron_variant BRCA-EU X 86783119 86783119 deletion of <=200bp A - intron_variant BRCA-EU X 86783908 86783908 single base substitution A C intron_variant BRCA-EU X 86784899 86784899 single base substitution A T intron_variant BRCA-EU X 86784915 86784915 single base substitution C T intron_variant BRCA-EU X 86787844 86787844 single base substitution T A intron_variant BRCA-EU X 86788559 86788559 single base substitution G C intron_variant BRCA-EU X 86788588 86788588 single base substitution A G intron_variant BRCA-EU X 86789062 86789062 single base substitution T A intron_variant BRCA-EU X 86789960 86789960 single base substitution A G intron_variant BRCA-EU X 86791216 86791216 single base substitution A T intron_variant BRCA-EU X 86791946 86791946 single base substitution G A intron_variant BRCA-EU X 86793321 86793321 single base substitution T A intron_variant BRCA-EU X 86793355 86793355 single base substitution A T intron_variant BRCA-EU X 86795083 86795083 single base substitution T A intron_variant BRCA-EU X 86795346 86795346 single base substitution T C intron_variant BRCA-EU X 86796185 86796185 single base substitution G A intron_variant BRCA-EU X 86796682 86796682 single base substitution C G intron_variant BRCA-EU X 86797039 86797039 single base substitution T C intron_variant BRCA-EU X 86797112 86797112 single base substitution C T intron_variant BRCA-EU X 86797565 86797565 single base substitution G T intron_variant BRCA-EU X 86798341 86798341 deletion of <=200bp A - intron_variant BRCA-EU X 86799235 86799235 single base substitution C G intron_variant BRCA-EU X 86799802 86799802 single base substitution C G intron_variant BRCA-EU X 86799967 86799967 single base substitution G T intron_variant BRCA-EU X 86800007 86800007 single base substitution G C intron_variant BRCA-EU X 86800979 86800979 single base substitution C T intron_variant BRCA-EU X 86801635 86801635 single base substitution A T intron_variant BRCA-EU X 86801751 86801751 single base substitution C G intron_variant BRCA-EU X 86801949 86801949 single base substitution C T intron_variant BRCA-EU X 86802215 86802215 single base substitution G T intron_variant BRCA-EU X 86802358 86802358 single base substitution G C intron_variant BRCA-EU X 86803401 86803401 single base substitution A G intron_variant BRCA-EU X 86803626 86803626 single base substitution T G intron_variant BRCA-EU X 86803627 86803627 insertion of <=200bp - G intron_variant BRCA-EU X 86803740 86803740 single base substitution T A intron_variant BRCA-EU X 86805380 86805380 deletion of <=200bp A - intron_variant BRCA-EU X 86805654 86805654 single base substitution T C intron_variant BRCA-EU X 86805741 86805741 single base substitution G T intron_variant BRCA-EU X 86805943 86805943 single base substitution G A intron_variant BRCA-EU X 86807357 86807357 single base substitution C A intron_variant BRCA-EU X 86807535 86807535 single base substitution C G intron_variant BRCA-EU X 86808091 86808091 single base substitution G A intron_variant BRCA-EU X 86808763 86808763 single base substitution G C intron_variant BRCA-EU X 86809285 86809285 single base substitution G T intron_variant BRCA-EU X 86810482 86810482 single base substitution C G intron_variant BRCA-EU X 86811146 86811146 single base substitution A G intron_variant BRCA-EU X 86812468 86812468 single base substitution C G intron_variant BRCA-EU X 86812499 86812499 single base substitution T C intron_variant BRCA-EU X 86812753 86812753 single base substitution G C intron_variant BRCA-EU X 86813055 86813055 single base substitution C T intron_variant BRCA-EU X 86813155 86813155 single base substitution G T intron_variant BRCA-EU X 86813545 86813545 single base substitution T C intron_variant BRCA-EU X 86813639 86813639 single base substitution C A intron_variant BRCA-EU X 86814375 86814375 single base substitution A T intron_variant BRCA-EU X 86814688 86814688 single base substitution G C intron_variant BRCA-EU X 86815104 86815104 single base substitution C G intron_variant BRCA-EU X 86815216 86815216 single base substitution G C intron_variant BRCA-EU X 86816925 86816925 single base substitution G A intron_variant BRCA-EU X 86816973 86816973 single base substitution C A intron_variant BRCA-EU X 86818160 86818160 single base substitution A G intron_variant BRCA-EU X 86818375 86818375 single base substitution G C intron_variant BRCA-EU X 86818777 86818777 single base substitution A T intron_variant BRCA-EU X 86819464 86819464 single base substitution C T intron_variant BRCA-EU X 86819822 86819822 single base substitution A T intron_variant BRCA-EU X 86819918 86819918 single base substitution C T intron_variant BRCA-EU X 86820132 86820132 single base substitution C A intron_variant BRCA-EU X 86820616 86820616 single base substitution C A intron_variant BRCA-EU X 86820630 86820630 single base substitution G A intron_variant BRCA-EU X 86821356 86821356 single base substitution A C intron_variant BRCA-EU X 86821631 86821631 single base substitution T C intron_variant BRCA-EU X 86821901 86821901 single base substitution C T intron_variant BRCA-EU X 86821970 86821970 single base substitution C T intron_variant BRCA-EU X 86822218 86822218 single base substitution G A intron_variant BRCA-EU X 86823169 86823169 single base substitution C G intron_variant BRCA-EU X 86824023 86824023 single base substitution G A intron_variant BRCA-EU X 86824029 86824029 single base substitution G A intron_variant BRCA-EU X 86824181 86824181 single base substitution C T intron_variant BRCA-EU X 86824321 86824321 single base substitution A G intron_variant BRCA-EU X 86824575 86824575 single base substitution C A intron_variant BRCA-EU X 86824623 86824623 single base substitution A T intron_variant BRCA-EU X 86826388 86826388 single base substitution T A intron_variant BRCA-EU X 86826476 86826476 single base substitution C T intron_variant BRCA-EU X 86826480 86826480 single base substitution A C intron_variant BRCA-EU X 86828084 86828084 single base substitution A G intron_variant BRCA-EU X 86828117 86828117 single base substitution A G intron_variant BRCA-EU X 86828295 86828295 single base substitution A T intron_variant BRCA-EU X 86829593 86829593 single base substitution C A intron_variant BRCA-EU X 86829619 86829619 single base substitution G A intron_variant BRCA-EU X 86829701 86829701 single base substitution A G intron_variant BRCA-EU X 86829709 86829709 single base substitution G C intron_variant BRCA-EU X 86831273 86831273 single base substitution T A intron_variant BRCA-EU X 86831725 86831725 single base substitution C A intron_variant BRCA-EU X 86832324 86832324 single base substitution C A intron_variant BRCA-EU X 86832624 86832624 insertion of <=200bp - A intron_variant BRCA-EU X 86833111 86833111 single base substitution C G intron_variant BRCA-EU X 86833413 86833413 single base substitution T A intron_variant BRCA-EU X 86833647 86833647 single base substitution A C intron_variant BRCA-EU X 86834219 86834219 insertion of <=200bp - A intron_variant BRCA-EU X 86834863 86834863 single base substitution C G intron_variant BRCA-EU X 86834994 86834994 single base substitution G A intron_variant BRCA-EU X 86835029 86835030 deletion of <=200bp TG - intron_variant BRCA-EU X 86835586 86835586 single base substitution G A intron_variant BRCA-EU X 86835767 86835767 single base substitution G C intron_variant BRCA-EU X 86835978 86835978 single base substitution G A intron_variant BRCA-EU X 86836438 86836438 single base substitution G T intron_variant BRCA-EU X 86836679 86836679 insertion of <=200bp - A intron_variant BRCA-EU X 86836843 86836843 single base substitution A T intron_variant BRCA-EU X 86837257 86837257 single base substitution G T intron_variant BRCA-EU X 86837417 86837417 single base substitution G C intron_variant BRCA-EU X 86837894 86837894 single base substitution A C intron_variant BRCA-EU X 86838607 86838607 single base substitution G T intron_variant BRCA-EU X 86840190 86840190 single base substitution G C intron_variant BRCA-EU X 86840508 86840508 single base substitution C G intron_variant BRCA-EU X 86840589 86840589 single base substitution C T intron_variant BRCA-EU X 86840991 86840991 single base substitution A T intron_variant BRCA-EU X 86841000 86841000 single base substitution A T intron_variant BRCA-EU X 86841721 86841721 single base substitution C A intron_variant BRCA-EU X 86841738 86841738 single base substitution A G intron_variant BRCA-EU X 86843637 86843637 deletion of <=200bp A - intron_variant BRCA-EU X 86844880 86844880 single base substitution A C intron_variant BRCA-EU X 86845365 86845365 single base substitution G A intron_variant BRCA-EU X 86845812 86845812 single base substitution T A intron_variant BRCA-EU X 86846073 86846073 single base substitution T C intron_variant BRCA-EU X 86846793 86846793 single base substitution A G intron_variant BRCA-EU X 86847516 86847516 single base substitution C G intron_variant BRCA-EU X 86848232 86848232 single base substitution C G intron_variant BRCA-EU X 86848379 86848379 single base substitution C T intron_variant BRCA-EU X 86849068 86849068 single base substitution G C intron_variant BRCA-EU X 86850382 86850382 single base substitution A G intron_variant BRCA-EU X 86850901 86850901 single base substitution C T intron_variant BRCA-EU X 86851114 86851114 single base substitution C T intron_variant BRCA-EU X 86851602 86851602 single base substitution G C intron_variant BRCA-EU X 86851775 86851775 single base substitution T G intron_variant BRCA-EU X 86851992 86851992 single base substitution G C intron_variant BRCA-EU X 86853983 86853983 single base substitution G C intron_variant BRCA-EU X 86855655 86855655 single base substitution A G intron_variant BRCA-EU X 86855840 86855840 single base substitution C T intron_variant BRCA-EU X 86855991 86855991 single base substitution C T intron_variant BRCA-EU X 86857949 86857949 single base substitution C T intron_variant BRCA-EU X 86859587 86859587 single base substitution C G intron_variant BRCA-EU X 86860521 86860521 single base substitution G C intron_variant BRCA-EU X 86860790 86860790 single base substitution C T intron_variant BRCA-EU X 86861057 86861057 single base substitution C G intron_variant BRCA-EU X 86861374 86861374 single base substitution A G intron_variant BRCA-EU X 86862299 86862299 single base substitution C T intron_variant BRCA-EU X 86862302 86862302 single base substitution T C intron_variant BRCA-EU X 86862797 86862797 single base substitution G A intron_variant BRCA-EU X 86863361 86863361 single base substitution G C intron_variant BRCA-EU X 86863428 86863428 single base substitution C A intron_variant BRCA-EU X 86863488 86863488 single base substitution C T intron_variant BRCA-EU X 86864654 86864654 single base substitution C A intron_variant BRCA-EU X 86864734 86864734 single base substitution A G intron_variant BRCA-EU X 86865007 86865007 single base substitution A T intron_variant BRCA-EU X 86865252 86865252 single base substitution G C intron_variant BRCA-EU X 86865727 86865727 single base substitution C T intron_variant BRCA-EU X 86866735 86866735 deletion of <=200bp A - intron_variant BRCA-EU X 86867299 86867299 single base substitution T G intron_variant BRCA-EU X 86867648 86867648 single base substitution A C intron_variant BRCA-EU X 86868103 86868103 single base substitution G T intron_variant BRCA-EU X 86868189 86868189 single base substitution G T intron_variant BRCA-EU X 86870871 86870871 single base substitution T C intron_variant BRCA-EU X 86870987 86870987 single base substitution C G intron_variant BRCA-EU X 86871690 86871690 single base substitution G A intron_variant BRCA-EU X 86872003 86872003 single base substitution T G intron_variant BRCA-EU X 86872202 86872202 single base substitution C A intron_variant BRCA-EU X 86872977 86872977 single base substitution C T missense_variant A257V 770C>T BRCA-EU X 86873126 86873126 single base substitution A C missense_variant T307P 919A>C BRCA-EU X 86873142 86873142 single base substitution T A intron_variant BRCA-EU X 86873289 86873289 single base substitution T G intron_variant BRCA-EU X 86873329 86873329 single base substitution C G intron_variant BRCA-EU X 86873668 86873668 deletion of <=200bp T - intron_variant BRCA-EU X 86874461 86874461 single base substitution C A intron_variant BRCA-EU X 86874880 86874880 single base substitution G A intron_variant BRCA-EU X 86875782 86875782 single base substitution G A intron_variant BRCA-EU X 86876035 86876035 single base substitution G A intron_variant BRCA-EU X 86876468 86876468 single base substitution G C intron_variant BRCA-EU X 86877006 86877006 single base substitution C T intron_variant BRCA-EU X 86877265 86877265 single base substitution G C missense_variant E327Q 979G>C BRCA-EU X 86877272 86877272 single base substitution C T missense_variant S329L 986C>T BRCA-EU X 86878282 86878314 deletion of <=200bp TTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGA - intron_variant BRCA-EU X 86878493 86878493 single base substitution C A intron_variant BRCA-EU X 86878494 86878494 single base substitution A T intron_variant BRCA-EU X 86878916 86878916 single base substitution C T intron_variant BRCA-EU X 86878972 86878972 single base substitution C T intron_variant BRCA-EU X 86879908 86879908 single base substitution G A intron_variant BRCA-EU X 86880161 86880161 single base substitution G C intron_variant BRCA-EU X 86880796 86880796 single base substitution G A missense_variant G442S 1324G>A BRCA-EU X 86881734 86881734 single base substitution T A intron_variant BRCA-EU X 86881942 86881942 deletion of <=200bp A - intron_variant BRCA-EU X 86883006 86883006 single base substitution C A intron_variant BRCA-EU X 86883160 86883160 single base substitution C G intron_variant BRCA-EU X 86883199 86883199 single base substitution G A intron_variant BRCA-EU X 86883352 86883352 single base substitution A T intron_variant BRCA-EU X 86883691 86883691 single base substitution G A intron_variant BRCA-EU X 86884452 86884452 single base substitution C G intron_variant BRCA-EU X 86884891 86884891 single base substitution G T intron_variant BRCA-EU X 86884978 86884978 single base substitution C T intron_variant BRCA-EU X 86885342 86885342 single base substitution A T intron_variant BRCA-EU X 86885486 86885486 insertion of <=200bp - G intron_variant BRCA-EU X 86885535 86885535 single base substitution A C intron_variant BRCA-EU X 86886474 86886474 single base substitution C T intron_variant BRCA-EU X 86886597 86886597 single base substitution C T intron_variant BRCA-EU X 86887785 86887785 single base substitution A G intron_variant BRCA-EU X 86887912 86887912 deletion of <=200bp T - intron_variant BRCA-EU X 86889616 86889616 single base substitution T G intron_variant BRCA-EU X 86891379 86891379 single base substitution G T intron_variant BRCA-EU X 86891887 86891887 single base substitution T G intron_variant BRCA-EU X 86892375 86892375 single base substitution C A intron_variant BRCA-EU X 86892777 86892777 single base substitution T G intron_variant BRCA-EU X 86893234 86893234 single base substitution C A intron_variant BRCA-EU X 86893317 86893317 single base substitution A T intron_variant BRCA-EU X 86893329 86893329 single base substitution A T intron_variant BRCA-EU X 86893694 86893694 single base substitution C G intron_variant BRCA-EU X 86893823 86893823 single base substitution A G intron_variant BRCA-EU X 86894071 86894071 single base substitution T G intron_variant BRCA-EU X 86895881 86895881 single base substitution G A intron_variant BRCA-EU X 86896046 86896046 single base substitution C T intron_variant BRCA-EU X 86896346 86896346 single base substitution C T intron_variant BRCA-EU X 86897607 86897607 single base substitution G A intron_variant BRCA-EU X 86897771 86897771 single base substitution G C intron_variant BRCA-EU X 86900260 86900260 single base substitution C T intron_variant BRCA-EU X 86901611 86901611 single base substitution C A intron_variant BRCA-EU X 86903119 86903119 single base substitution T A intron_variant BRCA-EU X 86903314 86903314 single base substitution G A intron_variant BRCA-EU X 86903549 86903549 single base substitution T A intron_variant BRCA-EU X 86903806 86903806 single base substitution C T intron_variant BRCA-EU X 86903953 86903953 single base substitution A G intron_variant BRCA-EU X 86904359 86904359 single base substitution C G intron_variant BRCA-EU X 86904792 86904792 single base substitution C T intron_variant BRCA-EU X 86904895 86904895 single base substitution C T intron_variant BRCA-EU X 86905104 86905104 single base substitution G C intron_variant BRCA-EU X 86905720 86905720 single base substitution C T intron_variant BRCA-EU X 86905832 86905832 single base substitution C G intron_variant BRCA-EU X 86906297 86906297 single base substitution C G intron_variant BRCA-EU X 86906423 86906423 single base substitution C A intron_variant BRCA-EU X 86906741 86906741 single base substitution C T intron_variant BRCA-EU X 86907205 86907205 single base substitution C T intron_variant BRCA-EU X 86907704 86907704 single base substitution G A intron_variant BRCA-EU X 86907853 86907853 single base substitution G C intron_variant BRCA-EU X 86907989 86907989 single base substitution G A intron_variant BRCA-EU X 86908160 86908160 single base substitution G T intron_variant BRCA-EU X 86908309 86908309 single base substitution C T intron_variant BRCA-EU X 86910541 86910541 insertion of <=200bp - T intron_variant BRCA-EU X 86910660 86910660 single base substitution C A intron_variant BRCA-EU X 86910983 86910983 single base substitution C A intron_variant BRCA-EU X 86911305 86911305 single base substitution C A intron_variant BRCA-EU X 86911387 86911387 insertion of <=200bp - T intron_variant BRCA-EU X 86911501 86911501 single base substitution T C intron_variant BRCA-EU X 86911690 86911690 single base substitution C T intron_variant BRCA-EU X 86912230 86912230 single base substitution C G intron_variant BRCA-EU X 86912434 86912434 single base substitution T C intron_variant BRCA-EU X 86913008 86913008 single base substitution G A intron_variant BRCA-EU X 86913555 86913555 single base substitution G T intron_variant BRCA-EU X 86913557 86913557 single base substitution G T intron_variant BRCA-EU X 86913940 86913940 single base substitution G A intron_variant BRCA-EU X 86914571 86914571 single base substitution T G intron_variant BRCA-EU X 86915744 86915744 single base substitution T A intron_variant BRCA-EU X 86915775 86915775 single base substitution C T intron_variant BRCA-EU X 86916748 86916748 insertion of <=200bp - T intron_variant BRCA-EU X 86916796 86916796 single base substitution C A intron_variant BRCA-EU X 86917280 86917287 deletion of <=200bp AATTAAAA - intron_variant BRCA-EU X 86917575 86917575 single base substitution C G intron_variant BRCA-EU X 86917599 86917599 single base substitution C G intron_variant BRCA-EU X 86918949 86918949 single base substitution T C intron_variant BRCA-EU X 86919035 86919035 single base substitution A T intron_variant BRCA-EU X 86919653 86919653 insertion of <=200bp - A intron_variant BRCA-EU X 86919710 86919710 single base substitution C T intron_variant BRCA-EU X 86920344 86920344 single base substitution C T intron_variant BRCA-EU X 86920519 86920519 single base substitution G A intron_variant BRCA-EU X 86920946 86920946 insertion of <=200bp - A intron_variant BRCA-EU X 86921214 86921214 single base substitution T A intron_variant BRCA-EU X 86921634 86921634 single base substitution T A 3_prime_UTR_variant BRCA-EU X 86921634 86921634 single base substitution T A intron_variant BRCA-EU X 86922593 86922593 single base substitution A T 3_prime_UTR_variant BRCA-EU X 86922593 86922593 single base substitution A T intron_variant BRCA-EU X 86923325 86923325 single base substitution G C 3_prime_UTR_variant BRCA-EU X 86923325 86923325 single base substitution G C intron_variant BRCA-EU X 86926597 86926597 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 86927034 86927034 single base substitution A T downstream_gene_variant BRCA-EU X 86927169 86927169 single base substitution G A downstream_gene_variant BRCA-EU X 86927235 86927235 single base substitution G T downstream_gene_variant BRCA-EU X 86927376 86927376 single base substitution G T downstream_gene_variant BRCA-EU X 86927463 86927463 single base substitution A T downstream_gene_variant BRCA-EU X 86927992 86927992 single base substitution G A downstream_gene_variant BRCA-EU X 86928270 86928270 single base substitution A C downstream_gene_variant BRCA-EU X 86928367 86928367 single base substitution G A downstream_gene_variant BRCA-EU X 86928845 86928845 single base substitution G T downstream_gene_variant BRCA-EU X 86928990 86928990 single base substitution G A downstream_gene_variant BRCA-EU X 86929026 86929026 single base substitution A T downstream_gene_variant BRCA-EU X 86929160 86929160 single base substitution C G downstream_gene_variant BRCA-EU X 86929526 86929526 single base substitution G A downstream_gene_variant BRCA-EU X 86929557 86929557 single base substitution T C downstream_gene_variant BRCA-EU X 86929854 86929854 single base substitution G C downstream_gene_variant BRCA-EU X 86929900 86929900 single base substitution A C downstream_gene_variant BRCA-FR X 86767846 86767846 single base substitution C T upstream_gene_variant BRCA-FR X 86774972 86774972 single base substitution G A intron_variant BRCA-FR X 86777307 86777307 single base substitution G A intron_variant BRCA-FR X 86786024 86786024 single base substitution C A intron_variant BRCA-FR X 86790337 86790337 single base substitution C T intron_variant BRCA-FR X 86791946 86791946 single base substitution G A intron_variant BRCA-FR X 86793321 86793321 single base substitution T A intron_variant BRCA-FR X 86797112 86797112 single base substitution C T intron_variant BRCA-FR X 86799235 86799235 single base substitution C G intron_variant BRCA-FR X 86808091 86808091 single base substitution G A intron_variant BRCA-FR X 86813639 86813639 single base substitution C T intron_variant BRCA-FR X 86828084 86828084 single base substitution A G intron_variant BRCA-FR X 86828119 86828119 single base substitution T C intron_variant BRCA-FR X 86829593 86829593 single base substitution C A intron_variant BRCA-FR X 86829619 86829619 single base substitution G A intron_variant BRCA-FR X 86829709 86829709 single base substitution G C intron_variant BRCA-FR X 86834994 86834994 single base substitution G A intron_variant BRCA-FR X 86836438 86836438 single base substitution G T intron_variant BRCA-FR X 86844880 86844880 single base substitution A C intron_variant BRCA-FR X 86847998 86847998 single base substitution C T intron_variant BRCA-FR X 86848232 86848232 single base substitution C G intron_variant BRCA-FR X 86851602 86851602 single base substitution G C intron_variant BRCA-FR X 86860101 86860101 single base substitution C T intron_variant BRCA-FR X 86860790 86860790 single base substitution C T intron_variant BRCA-FR X 86867299 86867299 single base substitution T G intron_variant BRCA-FR X 86883160 86883160 single base substitution C G intron_variant BRCA-FR X 86886597 86886597 single base substitution C T intron_variant BRCA-FR X 86893694 86893694 single base substitution C G intron_variant BRCA-FR X 86900260 86900260 single base substitution C T intron_variant BRCA-FR X 86903403 86903403 single base substitution G A intron_variant BRCA-FR X 86905104 86905104 single base substitution G C intron_variant BRCA-FR X 86905720 86905720 single base substitution C T intron_variant BRCA-FR X 86907853 86907853 single base substitution G C intron_variant BRCA-FR X 86908797 86908797 single base substitution C T intron_variant BRCA-FR X 86912230 86912230 single base substitution C G intron_variant BRCA-FR X 86917575 86917575 single base substitution C G intron_variant BRCA-FR X 86919710 86919710 single base substitution C T intron_variant BRCA-FR X 86920519 86920519 single base substitution G A intron_variant BRCA-FR X 86921214 86921214 single base substitution T A intron_variant BRCA-FR X 86924437 86924437 single base substitution G T 3_prime_UTR_variant BRCA-FR X 86925970 86925970 single base substitution C T downstream_gene_variant BRCA-FR X 86927169 86927169 single base substitution G A downstream_gene_variant BRCA-UK X 86773065 86773065 single base substitution C T missense_variant R57W 169C>T BRCA-UK X 86788588 86788588 single base substitution A G intron_variant BRCA-UK X 86797039 86797039 single base substitution T C intron_variant BRCA-UK X 86812396 86812396 single base substitution G T intron_variant BRCA-UK X 86832324 86832324 single base substitution C A intron_variant BRCA-UK X 86851033 86851033 single base substitution C G intron_variant BRCA-UK X 86864654 86864654 single base substitution C A intron_variant BRCA-UK X 86871690 86871690 single base substitution G A intron_variant BRCA-UK X 86894071 86894071 single base substitution T G intron_variant BRCA-UK X 86920766 86920766 single base substitution C G intron_variant BRCA-US X 86772968 86772968 single base substitution T A missense_variant H24Q 72T>A BRCA-US X 86773201 86773201 single base substitution C G missense_variant A102G 305C>G BRCA-US X 86869457 86869457 single base substitution C A missense_variant S204Y 611C>A BRCA-US X 86877241 86877241 single base substitution G T stop_gained E319* 955G>T BRCA-US X 86880629 86880629 single base substitution C A missense_variant T386N 1157C>A BRCA-US X 86887332 86887332 single base substitution G A missense_variant G483R 1447G>A BRCA-US X 86888818 86888818 single base substitution T C missense_variant V540A 1619T>C BTCA-JP X 86772956 86772956 single base substitution G T missense_variant R20S 60G>T BTCA-JP X 86869634 86869634 single base substitution G T intron_variant BTCA-JP X 86872855 86872855 deletion of <=200bp A - intron_variant BTCA-JP X 86877231 86877231 insertion of <=200bp - A frameshift_variant I315I? BTCA-JP X 86888772 86888772 single base substitution A G missense_variant M525V 1573A>G BTCA-JP X 86890618 86890618 single base substitution T A missense_variant F590I 1768T>A BTCA-JP X 86924521 86924521 deletion of <=200bp A - 3_prime_UTR_variant CESC-US X 86772953 86772953 single base substitution G C missense_variant W19C 57G>C CESC-US X 86772994 86772994 single base substitution G A missense_variant G33E 98G>A CESC-US X 86868950 86868950 single base substitution G A missense_variant A165T 493G>A CESC-US X 86869044 86869044 single base substitution A G missense_variant H196R 587A>G CESC-US X 86873003 86873003 single base substitution C G missense_variant Q266E 796C>G CESC-US X 86873030 86873030 single base substitution C T missense_variant L275F 823C>T CESC-US X 86890562 86890562 single base substitution G T splice_acceptor_variant CESC-US X 86890703 86890703 single base substitution T A missense_variant F618Y 1853T>A CLLE-ES X 86772837 86772837 single base substitution G A 5_prime_UTR_variant CLLE-ES X 86774514 86774514 single base substitution T G intron_variant CLLE-ES X 86777647 86777647 single base substitution T C intron_variant CLLE-ES X 86777709 86777709 single base substitution G A intron_variant CLLE-ES X 86777990 86777990 single base substitution T G intron_variant CLLE-ES X 86779460 86779460 single base substitution A C intron_variant CLLE-ES X 86782016 86782016 single base substitution A C intron_variant CLLE-ES X 86782864 86782864 single base substitution C T intron_variant CLLE-ES X 86789973 86789973 single base substitution T C intron_variant CLLE-ES X 86796090 86796090 single base substitution G A intron_variant CLLE-ES X 86796853 86796853 single base substitution A T intron_variant CLLE-ES X 86801868 86801868 single base substitution A T intron_variant CLLE-ES X 86814720 86814720 single base substitution A G intron_variant CLLE-ES X 86821717 86821717 single base substitution C T intron_variant CLLE-ES X 86822016 86822016 single base substitution G A intron_variant CLLE-ES X 86824054 86824054 single base substitution A G intron_variant CLLE-ES X 86824443 86824443 single base substitution C A intron_variant CLLE-ES X 86828690 86828690 single base substitution A T intron_variant CLLE-ES X 86829389 86829389 single base substitution T A intron_variant CLLE-ES X 86832503 86832503 single base substitution A T intron_variant CLLE-ES X 86833264 86833264 single base substitution A C intron_variant CLLE-ES X 86837894 86837894 single base substitution A T intron_variant CLLE-ES X 86837936 86837936 single base substitution C A intron_variant CLLE-ES X 86841904 86841904 single base substitution A T intron_variant CLLE-ES X 86842905 86842905 single base substitution A T intron_variant CLLE-ES X 86849283 86849283 single base substitution G T intron_variant CLLE-ES X 86850335 86850335 single base substitution A C intron_variant CLLE-ES X 86854181 86854181 single base substitution T C intron_variant CLLE-ES X 86855707 86855707 single base substitution G A intron_variant CLLE-ES X 86857892 86857892 single base substitution A T intron_variant CLLE-ES X 86859415 86859415 single base substitution A C intron_variant CLLE-ES X 86864212 86864212 single base substitution G A intron_variant CLLE-ES X 86873153 86873153 single base substitution G T intron_variant CLLE-ES X 86874504 86874504 single base substitution G A intron_variant CLLE-ES X 86875944 86875944 single base substitution A T intron_variant CLLE-ES X 86876292 86876292 single base substitution A C intron_variant CLLE-ES X 86876931 86876931 single base substitution G A intron_variant CLLE-ES X 86878611 86878611 single base substitution A T intron_variant CLLE-ES X 86883140 86883140 single base substitution C A intron_variant CLLE-ES X 86883542 86883542 single base substitution C A intron_variant CLLE-ES X 86888934 86888934 single base substitution G A intron_variant CLLE-ES X 86893375 86893375 single base substitution G A intron_variant CLLE-ES X 86894255 86894255 single base substitution C T intron_variant CLLE-ES X 86898853 86898853 single base substitution C A intron_variant CLLE-ES X 86904515 86904515 single base substitution T G intron_variant CLLE-ES X 86904729 86904729 single base substitution T G intron_variant CLLE-ES X 86908167 86908167 single base substitution G A intron_variant CLLE-ES X 86908596 86908596 single base substitution A T intron_variant CLLE-ES X 86914159 86914159 single base substitution G A intron_variant COAD-US X 86773015 86773015 single base substitution G A missense_variant G40E 119G>A COAD-US X 86773090 86773090 single base substitution G T missense_variant S65I 194G>T COAD-US X 86880694 86880694 single base substitution C A missense_variant L408I 1222C>A COAD-US X 86887333 86887333 single base substitution G T missense_variant G483V 1448G>T COAD-US X 86887341 86887341 single base substitution G A missense_variant G486S 1456G>A COAD-US X 86890627 86890627 single base substitution C A missense_variant H593N 1777C>A COAD-US X 86890729 86890729 single base substitution G A missense_variant A627T 1879G>A COAD-US X 86919825 86919825 single base substitution G C missense_variant V663L 1987G>C COAD-US X 86919934 86919934 single base substitution A C missense_variant E699A 2096A>C COCA-CN X 86773235 86773235 single base substitution G T missense_variant K113N 339G>T COCA-CN X 86773365 86773365 single base substitution T C intron_variant COCA-CN X 86811878 86811878 single base substitution G A intron_variant COCA-CN X 86844648 86844648 single base substitution G C intron_variant COCA-CN X 86868858 86868858 single base substitution C A intron_variant COCA-CN X 86869335 86869335 single base substitution G T intron_variant COCA-CN X 86869634 86869634 single base substitution G T intron_variant COCA-CN X 86880682 86880682 single base substitution A T missense_variant M404L 1210A>T COCA-CN X 86887454 86887454 single base substitution T C intron_variant COCA-CN X 86888824 86888824 single base substitution G T missense_variant R542I 1625G>T COCA-CN X 86890596 86890596 single base substitution C A synonymous_variant S582S 1746C>A EOPC-DE X 86812186 86812186 single base substitution C A intron_variant EOPC-DE X 86829270 86829270 single base substitution A G intron_variant EOPC-DE X 86831932 86831932 single base substitution T C intron_variant EOPC-DE X 86862260 86862260 single base substitution G A intron_variant EOPC-DE X 86897023 86897023 single base substitution C A intron_variant EOPC-DE X 86912419 86912419 single base substitution G A intron_variant ESCA-CN X 86880691 86880691 single base substitution C T missense_variant H407Y 1219C>T ESCA-CN X 86880724 86880724 single base substitution A T missense_variant S418C 1252A>T ESCA-CN X 86887206 86887206 single base substitution T A splice_region_variant ESCA-CN X 86887334 86887334 single base substitution A C synonymous_variant G483G 1449A>C GBM-US X 86773199 86773199 single base substitution A G synonymous_variant Q101Q 303A>G GBM-US X 86873003 86873003 single base substitution C T stop_gained Q266* 796C>T GBM-US X 86887278 86887278 single base substitution C A missense_variant R465S 1393C>A KIRC-US X 86890699 86890699 single base substitution G A missense_variant G617R 1849G>A KIRC-US X 86921522 86921522 single base substitution G T intron_variant KIRC-US X 86921522 86921522 single base substitution G T synonymous_variant V715V 2145G>T KIRP-US X 86773063 86773063 single base substitution C G missense_variant S56C 167C>G KIRP-US X 86887393 86887404 deletion of <=200bp GGACTGTGATGC - disruptive_inframe_deletion WTVMP503S LAML-KR X 86788052 86788052 single base substitution A C intron_variant LAML-KR X 86788063 86788063 single base substitution G T intron_variant LAML-KR X 86788451 86788451 single base substitution G T intron_variant LAML-KR X 86809197 86809197 single base substitution G A intron_variant LAML-KR X 86809727 86809727 single base substitution A G intron_variant LAML-KR X 86922362 86922362 single base substitution C T 3_prime_UTR_variant LAML-KR X 86922362 86922362 single base substitution C T intron_variant LICA-CN X 86887423 86887423 single base substitution G A missense_variant R513Q 1538G>A LICA-CN X 86890754 86890754 single base substitution G T missense_variant R635M 1904G>T LICA-FR X 86770942 86770942 single base substitution C A upstream_gene_variant LICA-FR X 86781334 86781334 single base substitution C A intron_variant LICA-FR X 86786139 86786139 single base substitution G C intron_variant LICA-FR X 86786785 86786785 single base substitution C G intron_variant LICA-FR X 86794001 86794001 single base substitution T C intron_variant LICA-FR X 86806906 86806906 single base substitution C A intron_variant LICA-FR X 86807196 86807196 single base substitution C G intron_variant LICA-FR X 86808842 86808842 single base substitution T A intron_variant LICA-FR X 86814822 86814822 single base substitution G A intron_variant LICA-FR X 86846750 86846750 single base substitution G T intron_variant LICA-FR X 86852598 86852598 single base substitution A T intron_variant LICA-FR X 86856284 86856284 single base substitution T C intron_variant LICA-FR X 86873166 86873166 single base substitution A C intron_variant LICA-FR X 86880731 86880731 single base substitution G A missense_variant R420Q 1259G>A LICA-FR X 86883889 86883889 single base substitution T C intron_variant LICA-FR X 86887381 86887381 single base substitution T C missense_variant V499A 1496T>C LICA-FR X 86888796 86888796 single base substitution G A missense_variant G533R 1597G>A LICA-FR X 86901810 86901810 single base substitution T C intron_variant LICA-FR X 86902558 86902558 single base substitution A G intron_variant LICA-FR X 86904413 86904413 single base substitution G A intron_variant LICA-FR X 86923347 86923347 single base substitution T A 3_prime_UTR_variant LICA-FR X 86923347 86923347 single base substitution T A intron_variant LICA-FR X 86924446 86924446 single base substitution G T 3_prime_UTR_variant LIHC-US X 86873049 86873049 single base substitution C A missense_variant P281H 842C>A LIHC-US X 86877345 86877345 single base substitution G T synonymous_variant V353V 1059G>T LINC-JP X 86772892 86772892 single base substitution C T 5_prime_UTR_variant LINC-JP X 86780644 86780644 single base substitution G T intron_variant LINC-JP X 86789118 86789118 single base substitution G T intron_variant LINC-JP X 86796488 86796488 single base substitution C T intron_variant LINC-JP X 86797394 86797394 single base substitution C G intron_variant LINC-JP X 86799235 86799235 single base substitution C T intron_variant LINC-JP X 86799236 86799236 single base substitution T A intron_variant LINC-JP X 86805154 86805154 single base substitution A G intron_variant LINC-JP X 86813484 86813484 single base substitution A G intron_variant LINC-JP X 86815573 86815573 single base substitution A G intron_variant LINC-JP X 86825070 86825070 single base substitution A T intron_variant LINC-JP X 86829525 86829525 single base substitution G T intron_variant LINC-JP X 86844948 86844948 single base substitution G A intron_variant LINC-JP X 86859243 86859243 single base substitution G T intron_variant LINC-JP X 86860733 86860733 single base substitution G A intron_variant LINC-JP X 86866356 86866356 single base substitution A T intron_variant LINC-JP X 86869045 86869045 single base substitution T C splice_region_variant LINC-JP X 86869714 86869714 single base substitution G A intron_variant LINC-JP X 86872578 86872578 single base substitution T C intron_variant LINC-JP X 86873161 86873161 single base substitution A T intron_variant LINC-JP X 86887591 86887591 single base substitution C T intron_variant LINC-JP X 86892718 86892718 single base substitution G C intron_variant LINC-JP X 86914596 86914596 single base substitution T A intron_variant LINC-JP X 86914598 86914598 single base substitution A C intron_variant LINC-JP X 86914653 86914653 single base substitution A G intron_variant LINC-JP X 86922129 86922129 single base substitution T A 3_prime_UTR_variant LINC-JP X 86922129 86922129 single base substitution T A intron_variant LINC-JP X 86923400 86923400 single base substitution C G 3_prime_UTR_variant LINC-JP X 86923400 86923400 single base substitution C G intron_variant LINC-JP X 86926023 86926023 single base substitution G A downstream_gene_variant LIRI-JP X 86769006 86769006 single base substitution T C upstream_gene_variant LIRI-JP X 86770797 86770797 single base substitution A T upstream_gene_variant LIRI-JP X 86771388 86771388 single base substitution C A upstream_gene_variant LIRI-JP X 86774088 86774088 single base substitution C A intron_variant LIRI-JP X 86778176 86778176 single base substitution T G intron_variant LIRI-JP X 86778457 86778457 single base substitution A G intron_variant LIRI-JP X 86779239 86779239 single base substitution T C intron_variant LIRI-JP X 86779554 86779554 single base substitution G A intron_variant LIRI-JP X 86782213 86782213 single base substitution C A intron_variant LIRI-JP X 86783085 86783085 single base substitution A G intron_variant LIRI-JP X 86784027 86784027 single base substitution G A intron_variant LIRI-JP X 86784112 86784112 single base substitution G T intron_variant LIRI-JP X 86784544 86784544 single base substitution A G intron_variant LIRI-JP X 86784580 86784580 single base substitution C A intron_variant LIRI-JP X 86789382 86789382 single base substitution T G intron_variant LIRI-JP X 86790359 86790359 single base substitution T C intron_variant LIRI-JP X 86790475 86790475 single base substitution C A intron_variant LIRI-JP X 86790833 86790833 single base substitution T C intron_variant LIRI-JP X 86791667 86791670 deletion of <=200bp TTCG - intron_variant LIRI-JP X 86792970 86792970 single base substitution C A intron_variant LIRI-JP X 86792971 86792971 single base substitution C T intron_variant LIRI-JP X 86793689 86793689 single base substitution T C intron_variant LIRI-JP X 86797932 86797932 single base substitution T A intron_variant LIRI-JP X 86798290 86798290 single base substitution G T intron_variant LIRI-JP X 86798428 86798428 single base substitution T C intron_variant LIRI-JP X 86801458 86801458 single base substitution A G intron_variant LIRI-JP X 86802106 86802106 single base substitution T C intron_variant LIRI-JP X 86802550 86802550 single base substitution G T intron_variant LIRI-JP X 86802610 86802610 single base substitution G A intron_variant LIRI-JP X 86802755 86802755 single base substitution T A intron_variant LIRI-JP X 86803138 86803138 single base substitution A G intron_variant LIRI-JP X 86803152 86803152 single base substitution T A intron_variant LIRI-JP X 86804115 86804115 single base substitution A C intron_variant LIRI-JP X 86804533 86804533 single base substitution T C intron_variant LIRI-JP X 86804590 86804590 single base substitution G A intron_variant LIRI-JP X 86804655 86804655 single base substitution C T intron_variant LIRI-JP X 86805360 86805360 single base substitution G A intron_variant LIRI-JP X 86806337 86806337 single base substitution G T intron_variant LIRI-JP X 86806966 86806966 single base substitution G T intron_variant LIRI-JP X 86808297 86808297 single base substitution T C intron_variant LIRI-JP X 86813981 86813981 single base substitution G A intron_variant LIRI-JP X 86814316 86814316 single base substitution T C intron_variant LIRI-JP X 86815278 86815278 single base substitution G T intron_variant LIRI-JP X 86816909 86816909 single base substitution A T intron_variant LIRI-JP X 86818090 86818090 single base substitution C G intron_variant LIRI-JP X 86820070 86820070 single base substitution G T intron_variant LIRI-JP X 86820498 86820498 single base substitution A G intron_variant LIRI-JP X 86821317 86821317 single base substitution A T intron_variant LIRI-JP X 86821399 86821399 single base substitution T C intron_variant LIRI-JP X 86821416 86821416 single base substitution G T intron_variant LIRI-JP X 86821970 86821970 single base substitution C T intron_variant LIRI-JP X 86822489 86822489 single base substitution T G intron_variant LIRI-JP X 86822679 86822679 single base substitution T G intron_variant LIRI-JP X 86824748 86824748 single base substitution T C intron_variant LIRI-JP X 86826502 86826502 deletion of <=200bp T - intron_variant LIRI-JP X 86827960 86827960 single base substitution G T intron_variant LIRI-JP X 86828620 86828620 single base substitution T C intron_variant LIRI-JP X 86829441 86829441 single base substitution T C intron_variant LIRI-JP X 86829509 86829509 single base substitution T C intron_variant LIRI-JP X 86830028 86830028 single base substitution G T intron_variant LIRI-JP X 86830140 86830140 single base substitution T A intron_variant LIRI-JP X 86830172 86830172 single base substitution G T intron_variant LIRI-JP X 86832246 86832246 single base substitution T C intron_variant LIRI-JP X 86832738 86832738 single base substitution A G intron_variant LIRI-JP X 86832755 86832755 single base substitution C A intron_variant LIRI-JP X 86833064 86833064 single base substitution G T intron_variant LIRI-JP X 86833317 86833317 single base substitution T C intron_variant LIRI-JP X 86838287 86838287 single base substitution C A intron_variant LIRI-JP X 86838529 86838529 single base substitution C G intron_variant LIRI-JP X 86839412 86839412 single base substitution G T intron_variant LIRI-JP X 86841270 86841270 single base substitution A G intron_variant LIRI-JP X 86842493 86842493 single base substitution A G intron_variant LIRI-JP X 86842596 86842596 single base substitution A G intron_variant LIRI-JP X 86843128 86843128 single base substitution A G intron_variant LIRI-JP X 86843212 86843212 single base substitution T G intron_variant LIRI-JP X 86844024 86844024 single base substitution T C intron_variant LIRI-JP X 86844142 86844142 single base substitution C T intron_variant LIRI-JP X 86844222 86844222 single base substitution A G intron_variant LIRI-JP X 86844491 86844491 single base substitution G T intron_variant LIRI-JP X 86844959 86844959 single base substitution T A intron_variant LIRI-JP X 86845448 86845448 single base substitution C A intron_variant LIRI-JP X 86845449 86845449 single base substitution C A intron_variant LIRI-JP X 86846232 86846232 single base substitution C T intron_variant LIRI-JP X 86849963 86849963 single base substitution G A intron_variant LIRI-JP X 86850203 86850203 single base substitution G A intron_variant LIRI-JP X 86850327 86850327 single base substitution A G intron_variant LIRI-JP X 86851181 86851181 single base substitution T A intron_variant LIRI-JP X 86851219 86851219 single base substitution A G intron_variant LIRI-JP X 86851540 86851540 single base substitution T C intron_variant LIRI-JP X 86852331 86852331 single base substitution A T intron_variant LIRI-JP X 86852700 86852700 single base substitution G T intron_variant LIRI-JP X 86852750 86852750 single base substitution G T intron_variant LIRI-JP X 86853255 86853255 single base substitution A G intron_variant LIRI-JP X 86853734 86853734 single base substitution A T intron_variant LIRI-JP X 86854013 86854013 single base substitution A G intron_variant LIRI-JP X 86855129 86855129 single base substitution T C intron_variant LIRI-JP X 86855982 86855982 single base substitution C A intron_variant LIRI-JP X 86856328 86856328 single base substitution G T intron_variant LIRI-JP X 86857037 86857037 single base substitution T C intron_variant LIRI-JP X 86859901 86859901 single base substitution T C intron_variant LIRI-JP X 86860150 86860150 single base substitution A G intron_variant LIRI-JP X 86860410 86860410 single base substitution T G intron_variant LIRI-JP X 86861043 86861043 single base substitution G T intron_variant LIRI-JP X 86861964 86861964 single base substitution T C intron_variant LIRI-JP X 86862737 86862737 single base substitution C T intron_variant LIRI-JP X 86862839 86862839 single base substitution G T intron_variant LIRI-JP X 86866009 86866009 single base substitution A G intron_variant LIRI-JP X 86866110 86866110 single base substitution T C intron_variant LIRI-JP X 86866706 86866706 single base substitution C A intron_variant LIRI-JP X 86866866 86866866 single base substitution A T intron_variant LIRI-JP X 86867300 86867300 single base substitution T A intron_variant LIRI-JP X 86867885 86867885 single base substitution T C intron_variant LIRI-JP X 86868844 86868844 single base substitution T C intron_variant LIRI-JP X 86868895 86868895 single base substitution C A missense_variant H146Q 438C>A LIRI-JP X 86868970 86868970 single base substitution A G synonymous_variant K171K 513A>G LIRI-JP X 86868981 86868981 single base substitution A G missense_variant Y175C 524A>G LIRI-JP X 86869793 86869793 single base substitution A G intron_variant LIRI-JP X 86870139 86870139 single base substitution A T intron_variant LIRI-JP X 86870252 86870252 single base substitution G T intron_variant LIRI-JP X 86871537 86871537 single base substitution G A intron_variant LIRI-JP X 86871626 86871626 single base substitution A G intron_variant LIRI-JP X 86872061 86872061 single base substitution G A intron_variant LIRI-JP X 86872719 86872719 single base substitution A G intron_variant LIRI-JP X 86873385 86873385 single base substitution A T intron_variant LIRI-JP X 86874357 86874357 single base substitution C T intron_variant LIRI-JP X 86874499 86874499 single base substitution C A intron_variant LIRI-JP X 86874904 86874909 deletion of <=200bp TAATTT - intron_variant LIRI-JP X 86874923 86874928 deletion of <=200bp TAATAC - intron_variant LIRI-JP X 86876980 86876980 single base substitution T C intron_variant LIRI-JP X 86877924 86877924 single base substitution A G intron_variant LIRI-JP X 86879862 86879862 single base substitution G C intron_variant LIRI-JP X 86880170 86880170 single base substitution G A intron_variant LIRI-JP X 86881095 86881095 single base substitution C A intron_variant LIRI-JP X 86881263 86881263 single base substitution C T intron_variant LIRI-JP X 86882166 86882166 single base substitution A G intron_variant LIRI-JP X 86882474 86882474 single base substitution C G intron_variant LIRI-JP X 86883117 86883117 single base substitution C A intron_variant LIRI-JP X 86883556 86883556 single base substitution G A intron_variant LIRI-JP X 86883848 86883848 deletion of <=200bp G - intron_variant LIRI-JP X 86884472 86884472 single base substitution T C intron_variant LIRI-JP X 86884542 86884542 single base substitution A G intron_variant LIRI-JP X 86885302 86885302 single base substitution T C intron_variant LIRI-JP X 86887477 86887477 single base substitution G T intron_variant LIRI-JP X 86887805 86887805 single base substitution G A intron_variant LIRI-JP X 86888369 86888369 single base substitution A G intron_variant LIRI-JP X 86888386 86888386 single base substitution A T intron_variant LIRI-JP X 86889249 86889249 single base substitution A G intron_variant LIRI-JP X 86892769 86892769 single base substitution C T intron_variant LIRI-JP X 86894392 86894392 single base substitution A G intron_variant LIRI-JP X 86895171 86895171 single base substitution A G intron_variant LIRI-JP X 86895434 86895434 single base substitution A G intron_variant LIRI-JP X 86895635 86895635 single base substitution A T intron_variant LIRI-JP X 86896000 86896000 single base substitution T A intron_variant LIRI-JP X 86896314 86896314 single base substitution A G intron_variant LIRI-JP X 86897776 86897776 single base substitution T C intron_variant LIRI-JP X 86898470 86898470 single base substitution A G intron_variant LIRI-JP X 86898590 86898590 single base substitution G T intron_variant LIRI-JP X 86899322 86899322 single base substitution A G intron_variant LIRI-JP X 86900137 86900137 single base substitution T C intron_variant LIRI-JP X 86902241 86902241 single base substitution T C intron_variant LIRI-JP X 86903632 86903632 single base substitution G A intron_variant LIRI-JP X 86904230 86904230 single base substitution T C intron_variant LIRI-JP X 86905504 86905504 single base substitution C A intron_variant LIRI-JP X 86908537 86908537 single base substitution A G intron_variant LIRI-JP X 86910017 86910017 single base substitution G C intron_variant LIRI-JP X 86911220 86911220 single base substitution A G intron_variant LIRI-JP X 86911430 86911430 single base substitution T C intron_variant LIRI-JP X 86912093 86912093 single base substitution C A intron_variant LIRI-JP X 86912765 86912765 single base substitution C T intron_variant LIRI-JP X 86912994 86912994 insertion of <=200bp - A intron_variant LIRI-JP X 86913613 86913613 single base substitution T C intron_variant LIRI-JP X 86915782 86915782 single base substitution T C intron_variant LIRI-JP X 86916500 86916500 single base substitution T C intron_variant LIRI-JP X 86917624 86917624 single base substitution T C intron_variant LIRI-JP X 86918449 86918449 single base substitution C A intron_variant LIRI-JP X 86919280 86919280 single base substitution T C intron_variant LIRI-JP X 86919306 86919306 single base substitution T G intron_variant LIRI-JP X 86920256 86920256 single base substitution A G intron_variant LIRI-JP X 86920361 86920361 single base substitution T A intron_variant LIRI-JP X 86924270 86924270 single base substitution C A 3_prime_UTR_variant LIRI-JP X 86924270 86924270 single base substitution C A intron_variant LIRI-JP X 86924506 86924506 single base substitution C A 3_prime_UTR_variant LIRI-JP X 86925488 86925488 single base substitution T A downstream_gene_variant LIRI-JP X 86925971 86925971 single base substitution C G downstream_gene_variant LIRI-JP X 86926227 86926227 single base substitution G T downstream_gene_variant LIRI-JP X 86926929 86926929 single base substitution G T downstream_gene_variant LIRI-JP X 86928055 86928055 single base substitution C T downstream_gene_variant LUSC-KR X 86770630 86770630 single base substitution A G upstream_gene_variant LUSC-KR X 86772000 86772000 single base substitution C A upstream_gene_variant LUSC-KR X 86772032 86772032 single base substitution C A upstream_gene_variant LUSC-KR X 86773010 86773010 single base substitution G C missense_variant Q38H 114G>C LUSC-KR X 86774805 86774805 single base substitution C A intron_variant LUSC-KR X 86775324 86775324 single base substitution C G intron_variant LUSC-KR X 86775412 86775412 single base substitution C A intron_variant LUSC-KR X 86775558 86775558 single base substitution A G intron_variant LUSC-KR X 86776286 86776286 single base substitution G T intron_variant LUSC-KR X 86776855 86776855 single base substitution G T intron_variant LUSC-KR X 86778640 86778640 single base substitution C G intron_variant LUSC-KR X 86781053 86781053 single base substitution T C intron_variant LUSC-KR X 86782354 86782354 single base substitution A T intron_variant LUSC-KR X 86782460 86782460 single base substitution C G intron_variant LUSC-KR X 86784157 86784157 single base substitution A T intron_variant LUSC-KR X 86784628 86784628 single base substitution T A intron_variant LUSC-KR X 86784670 86784670 single base substitution T A intron_variant LUSC-KR X 86784672 86784672 single base substitution C T intron_variant LUSC-KR X 86784722 86784722 single base substitution G T intron_variant LUSC-KR X 86784903 86784903 single base substitution G C intron_variant LUSC-KR X 86785686 86785686 single base substitution G T intron_variant LUSC-KR X 86786456 86786456 single base substitution A G intron_variant LUSC-KR X 86786908 86786908 single base substitution G A intron_variant LUSC-KR X 86787099 86787099 single base substitution G T intron_variant LUSC-KR X 86788538 86788538 single base substitution C G intron_variant LUSC-KR X 86789606 86789606 single base substitution G A intron_variant LUSC-KR X 86790213 86790213 single base substitution G T intron_variant LUSC-KR X 86791334 86791334 single base substitution T C intron_variant LUSC-KR X 86791528 86791528 single base substitution G A intron_variant LUSC-KR X 86793728 86793728 single base substitution G T intron_variant LUSC-KR X 86796324 86796324 single base substitution T C intron_variant LUSC-KR X 86796594 86796594 single base substitution C A intron_variant LUSC-KR X 86797235 86797235 single base substitution G T intron_variant LUSC-KR X 86797616 86797616 single base substitution G T intron_variant LUSC-KR X 86798122 86798122 single base substitution T C intron_variant LUSC-KR X 86798424 86798424 single base substitution C A intron_variant LUSC-KR X 86799009 86799009 single base substitution C A intron_variant LUSC-KR X 86799684 86799684 single base substitution G A intron_variant LUSC-KR X 86799967 86799967 single base substitution G T intron_variant LUSC-KR X 86800498 86800498 single base substitution A T intron_variant LUSC-KR X 86800604 86800604 single base substitution G T intron_variant LUSC-KR X 86801969 86801969 single base substitution A T intron_variant LUSC-KR X 86802553 86802553 single base substitution C G intron_variant LUSC-KR X 86804032 86804032 single base substitution C G intron_variant LUSC-KR X 86805941 86805941 single base substitution C G intron_variant LUSC-KR X 86807243 86807243 single base substitution T C intron_variant LUSC-KR X 86807747 86807747 single base substitution G T intron_variant LUSC-KR X 86810500 86810500 single base substitution T C intron_variant LUSC-KR X 86810505 86810505 single base substitution G T intron_variant LUSC-KR X 86815691 86815691 single base substitution G C intron_variant LUSC-KR X 86816239 86816239 single base substitution C A intron_variant LUSC-KR X 86816311 86816311 single base substitution A G intron_variant LUSC-KR X 86816383 86816383 single base substitution A G intron_variant LUSC-KR X 86816776 86816776 single base substitution G A intron_variant LUSC-KR X 86816962 86816962 single base substitution G A intron_variant LUSC-KR X 86817524 86817524 single base substitution C A intron_variant LUSC-KR X 86817525 86817525 single base substitution C G intron_variant LUSC-KR X 86818845 86818845 single base substitution G C intron_variant LUSC-KR X 86819950 86819950 single base substitution T C intron_variant LUSC-KR X 86820606 86820606 single base substitution G A intron_variant LUSC-KR X 86824254 86824254 single base substitution C A intron_variant LUSC-KR X 86825272 86825272 single base substitution G C intron_variant LUSC-KR X 86825517 86825517 single base substitution G T intron_variant LUSC-KR X 86826640 86826640 single base substitution T A intron_variant LUSC-KR X 86826859 86826859 single base substitution G A intron_variant LUSC-KR X 86827010 86827010 single base substitution G T intron_variant LUSC-KR X 86827999 86827999 single base substitution G A intron_variant LUSC-KR X 86828679 86828679 single base substitution C A intron_variant LUSC-KR X 86834189 86834189 single base substitution C A intron_variant LUSC-KR X 86836169 86836169 single base substitution G T intron_variant LUSC-KR X 86837160 86837160 single base substitution G T intron_variant LUSC-KR X 86840676 86840676 single base substitution G T intron_variant LUSC-KR X 86840795 86840795 single base substitution T G intron_variant LUSC-KR X 86841216 86841216 single base substitution G T intron_variant LUSC-KR X 86841510 86841510 single base substitution A T intron_variant LUSC-KR X 86842491 86842491 single base substitution C A intron_variant LUSC-KR X 86842631 86842631 single base substitution A G intron_variant LUSC-KR X 86843384 86843384 single base substitution C A intron_variant LUSC-KR X 86843385 86843385 single base substitution C A intron_variant LUSC-KR X 86843891 86843891 single base substitution A G intron_variant LUSC-KR X 86844410 86844410 single base substitution T A intron_variant LUSC-KR X 86845852 86845852 single base substitution C T intron_variant LUSC-KR X 86846031 86846031 single base substitution T A intron_variant LUSC-KR X 86850278 86850278 single base substitution G A intron_variant LUSC-KR X 86852553 86852553 single base substitution A T intron_variant LUSC-KR X 86853756 86853756 single base substitution A T intron_variant LUSC-KR X 86853968 86853968 single base substitution C A intron_variant LUSC-KR X 86855318 86855318 single base substitution C T intron_variant LUSC-KR X 86855338 86855338 single base substitution T A intron_variant LUSC-KR X 86855708 86855708 single base substitution T A intron_variant LUSC-KR X 86856890 86856890 single base substitution C A intron_variant LUSC-KR X 86857429 86857429 single base substitution A G intron_variant LUSC-KR X 86857595 86857595 single base substitution G T intron_variant LUSC-KR X 86862999 86862999 single base substitution A T intron_variant LUSC-KR X 86865126 86865126 single base substitution C A intron_variant LUSC-KR X 86866623 86866623 single base substitution T A intron_variant LUSC-KR X 86867600 86867600 single base substitution C T intron_variant LUSC-KR X 86869069 86869069 single base substitution G T intron_variant LUSC-KR X 86873236 86873236 single base substitution A T intron_variant LUSC-KR X 86877348 86877348 single base substitution G T synonymous_variant G354G 1062G>T LUSC-KR X 86878525 86878525 single base substitution C T intron_variant LUSC-KR X 86881372 86881372 single base substitution G A intron_variant LUSC-KR X 86881639 86881639 single base substitution T C intron_variant LUSC-KR X 86881640 86881640 single base substitution G A intron_variant LUSC-KR X 86881712 86881712 single base substitution C A intron_variant LUSC-KR X 86881996 86881996 single base substitution G T intron_variant LUSC-KR X 86883819 86883819 single base substitution T G intron_variant LUSC-KR X 86885353 86885353 single base substitution T A intron_variant LUSC-KR X 86886090 86886090 single base substitution G T intron_variant LUSC-KR X 86886857 86886857 single base substitution G A intron_variant LUSC-KR X 86887046 86887046 single base substitution C G intron_variant LUSC-KR X 86887124 86887124 single base substitution A G intron_variant LUSC-KR X 86887244 86887244 single base substitution C T synonymous_variant T453T 1359C>T LUSC-KR X 86889947 86889947 single base substitution T C intron_variant LUSC-KR X 86891415 86891415 single base substitution C A intron_variant LUSC-KR X 86891416 86891416 single base substitution C A intron_variant LUSC-KR X 86891970 86891970 single base substitution T G intron_variant LUSC-KR X 86892500 86892500 single base substitution A G intron_variant LUSC-KR X 86892905 86892905 single base substitution T A intron_variant LUSC-KR X 86893983 86893983 single base substitution G T intron_variant LUSC-KR X 86895664 86895664 single base substitution A C intron_variant LUSC-KR X 86895820 86895820 single base substitution G T intron_variant LUSC-KR X 86895836 86895836 single base substitution C T intron_variant LUSC-KR X 86896127 86896127 single base substitution C A intron_variant LUSC-KR X 86896477 86896477 single base substitution C A intron_variant LUSC-KR X 86897084 86897084 single base substitution C A intron_variant LUSC-KR X 86897860 86897860 single base substitution G A intron_variant LUSC-KR X 86898268 86898268 single base substitution C A intron_variant LUSC-KR X 86898480 86898480 single base substitution C G intron_variant LUSC-KR X 86899127 86899127 single base substitution G C intron_variant LUSC-KR X 86899615 86899615 single base substitution G T intron_variant LUSC-KR X 86900349 86900349 single base substitution A G intron_variant LUSC-KR X 86901500 86901500 single base substitution T A intron_variant LUSC-KR X 86903537 86903537 single base substitution G C intron_variant LUSC-KR X 86903616 86903616 single base substitution T A intron_variant LUSC-KR X 86907619 86907619 single base substitution A T intron_variant LUSC-KR X 86907620 86907620 single base substitution G T intron_variant LUSC-KR X 86908748 86908748 single base substitution C A intron_variant LUSC-KR X 86908783 86908783 single base substitution G T intron_variant LUSC-KR X 86908979 86908979 single base substitution G T intron_variant LUSC-KR X 86910155 86910155 single base substitution T A intron_variant LUSC-KR X 86911893 86911893 single base substitution C T intron_variant LUSC-KR X 86912928 86912928 single base substitution A G intron_variant LUSC-KR X 86912929 86912929 single base substitution A T intron_variant LUSC-KR X 86913039 86913039 single base substitution C G intron_variant LUSC-KR X 86913171 86913171 single base substitution G T intron_variant LUSC-KR X 86914281 86914281 single base substitution G T intron_variant LUSC-KR X 86915939 86915939 single base substitution C G intron_variant LUSC-KR X 86916215 86916215 single base substitution A C intron_variant LUSC-KR X 86918972 86918972 single base substitution A T intron_variant LUSC-KR X 86920327 86920327 single base substitution T A intron_variant LUSC-KR X 86921771 86921771 single base substitution G T 3_prime_UTR_variant LUSC-KR X 86921771 86921771 single base substitution G T intron_variant LUSC-KR X 86922086 86922086 single base substitution A G 3_prime_UTR_variant LUSC-KR X 86922086 86922086 single base substitution A G intron_variant LUSC-KR X 86924765 86924765 single base substitution C A 3_prime_UTR_variant LUSC-KR X 86924765 86924765 single base substitution C A downstream_gene_variant LUSC-KR X 86926236 86926236 single base substitution G T downstream_gene_variant LUSC-KR X 86926924 86926924 single base substitution A G downstream_gene_variant LUSC-KR X 86927002 86927002 single base substitution C T downstream_gene_variant LUSC-KR X 86927563 86927563 single base substitution A T downstream_gene_variant LUSC-KR X 86927794 86927794 single base substitution G T downstream_gene_variant LUSC-KR X 86928337 86928337 single base substitution C G downstream_gene_variant LUSC-KR X 86929498 86929498 single base substitution C A downstream_gene_variant LUSC-KR X 86929499 86929499 single base substitution C A downstream_gene_variant LUSC-US X 86773049 86773049 single base substitution G T missense_variant R51S 153G>T LUSC-US X 86773098 86773098 single base substitution C A missense_variant P68T 202C>A LUSC-US X 86869436 86869436 single base substitution G T splice_acceptor_variant LUSC-US X 86869560 86869560 single base substitution G T missense_variant Q238H 714G>T LUSC-US X 86887307 86887307 single base substitution T G missense_variant I474M 1422T>G LUSC-US X 86888805 86888805 single base substitution T A missense_variant Y536N 1606T>A LUSC-US X 86888827 86888827 single base substitution G T missense_variant W543L 1628G>T LUSC-US X 86890576 86890576 single base substitution G T missense_variant G576C 1726G>T LUSC-US X 86919919 86919919 single base substitution G T missense_variant R694I 2081G>T MALY-DE X 86768130 86768130 single base substitution G T upstream_gene_variant MALY-DE X 86769697 86769697 single base substitution T A upstream_gene_variant MALY-DE X 86770243 86770243 insertion of <=200bp - TA upstream_gene_variant MALY-DE X 86772865 86772865 single base substitution G T 5_prime_UTR_variant MALY-DE X 86773239 86773239 single base substitution T G missense_variant L115V 343T>G MALY-DE X 86773807 86773807 single base substitution A G intron_variant MALY-DE X 86774679 86774679 single base substitution A C intron_variant MALY-DE X 86774818 86774818 single base substitution A T intron_variant MALY-DE X 86776373 86776373 single base substitution A G intron_variant MALY-DE X 86776759 86776759 single base substitution A T intron_variant MALY-DE X 86777763 86777763 insertion of <=200bp - A intron_variant MALY-DE X 86777767 86777767 single base substitution A C intron_variant MALY-DE X 86778468 86778468 single base substitution T G intron_variant MALY-DE X 86779369 86779369 single base substitution A C intron_variant MALY-DE X 86780750 86780750 single base substitution C T intron_variant MALY-DE X 86781314 86781314 single base substitution C T intron_variant MALY-DE X 86781875 86781875 single base substitution T G intron_variant MALY-DE X 86782379 86782379 single base substitution T A intron_variant MALY-DE X 86783007 86783007 single base substitution C G intron_variant MALY-DE X 86784059 86784059 single base substitution G T intron_variant MALY-DE X 86784968 86784968 single base substitution A G intron_variant MALY-DE X 86790087 86790087 single base substitution A G intron_variant MALY-DE X 86791776 86791776 single base substitution A G intron_variant MALY-DE X 86792595 86792595 single base substitution T A intron_variant MALY-DE X 86792994 86792994 single base substitution C T intron_variant MALY-DE X 86796251 86796251 single base substitution A G intron_variant MALY-DE X 86802449 86802449 single base substitution C A intron_variant MALY-DE X 86804346 86804346 single base substitution A G intron_variant MALY-DE X 86804550 86804550 single base substitution A C intron_variant MALY-DE X 86805333 86805333 single base substitution C A intron_variant MALY-DE X 86806498 86806498 single base substitution A G intron_variant MALY-DE X 86806949 86806949 single base substitution T G intron_variant MALY-DE X 86807553 86807553 single base substitution G A intron_variant MALY-DE X 86807697 86807697 insertion of <=200bp - TA intron_variant MALY-DE X 86811101 86811101 single base substitution T A intron_variant MALY-DE X 86811862 86811862 insertion of <=200bp - T intron_variant MALY-DE X 86812746 86812746 insertion of <=200bp - G intron_variant MALY-DE X 86812752 86812752 single base substitution T C intron_variant MALY-DE X 86812838 86812838 single base substitution T G intron_variant MALY-DE X 86816055 86816055 insertion of <=200bp - A intron_variant MALY-DE X 86816223 86816223 single base substitution A T intron_variant MALY-DE X 86816872 86816872 single base substitution C A intron_variant MALY-DE X 86818931 86818931 single base substitution C A intron_variant MALY-DE X 86819651 86819651 single base substitution A G intron_variant MALY-DE X 86820308 86820308 single base substitution T A intron_variant MALY-DE X 86822844 86822844 single base substitution C G intron_variant MALY-DE X 86824170 86824170 single base substitution C A intron_variant MALY-DE X 86824626 86824626 single base substitution A C intron_variant MALY-DE X 86825222 86825222 single base substitution G T intron_variant MALY-DE X 86825229 86825229 single base substitution G A intron_variant MALY-DE X 86826257 86826257 single base substitution T C intron_variant MALY-DE X 86827158 86827158 single base substitution G T intron_variant MALY-DE X 86828684 86828684 single base substitution T G intron_variant MALY-DE X 86828749 86828749 single base substitution C T intron_variant MALY-DE X 86828957 86828957 single base substitution G A intron_variant MALY-DE X 86830179 86830179 single base substitution T A intron_variant MALY-DE X 86830974 86830974 single base substitution A T intron_variant MALY-DE X 86832084 86832084 single base substitution A T intron_variant MALY-DE X 86835270 86835270 single base substitution T A intron_variant MALY-DE X 86836953 86836953 single base substitution G T intron_variant MALY-DE X 86837230 86837230 single base substitution A C intron_variant MALY-DE X 86838346 86838346 insertion of <=200bp - GGTGA intron_variant MALY-DE X 86838354 86838358 deletion of <=200bp TCACC - intron_variant MALY-DE X 86838479 86838479 single base substitution C T intron_variant MALY-DE X 86841782 86841782 single base substitution G A intron_variant MALY-DE X 86841937 86841937 single base substitution G A intron_variant MALY-DE X 86842104 86842104 single base substitution A G intron_variant MALY-DE X 86844340 86844340 single base substitution A C intron_variant MALY-DE X 86844823 86844823 single base substitution G T intron_variant MALY-DE X 86844970 86844970 single base substitution G T intron_variant MALY-DE X 86845120 86845120 single base substitution T G intron_variant MALY-DE X 86845240 86845240 single base substitution C T intron_variant MALY-DE X 86845295 86845295 single base substitution A T intron_variant MALY-DE X 86845336 86845336 deletion of <=200bp A - intron_variant MALY-DE X 86845497 86845497 single base substitution A C intron_variant MALY-DE X 86845628 86845628 single base substitution C T intron_variant MALY-DE X 86847163 86847163 single base substitution T A intron_variant MALY-DE X 86848462 86848462 single base substitution A G intron_variant MALY-DE X 86849023 86849023 single base substitution G T intron_variant MALY-DE X 86849736 86849736 single base substitution A G intron_variant MALY-DE X 86853059 86853059 single base substitution T G intron_variant MALY-DE X 86853680 86853680 single base substitution T C intron_variant MALY-DE X 86853779 86853779 insertion of <=200bp - A intron_variant MALY-DE X 86854849 86854849 single base substitution C T intron_variant MALY-DE X 86855948 86855948 single base substitution A C intron_variant MALY-DE X 86859094 86859094 deletion of <=200bp G - intron_variant MALY-DE X 86859755 86859755 deletion of <=200bp A - intron_variant MALY-DE X 86860216 86860216 insertion of <=200bp - T intron_variant MALY-DE X 86860421 86860421 single base substitution C A intron_variant MALY-DE X 86860559 86860559 single base substitution A C intron_variant MALY-DE X 86860924 86860924 single base substitution G T intron_variant MALY-DE X 86861143 86861143 single base substitution T C intron_variant MALY-DE X 86861254 86861254 single base substitution T C intron_variant MALY-DE X 86861721 86861721 single base substitution C A intron_variant MALY-DE X 86863433 86863433 single base substitution G T intron_variant MALY-DE X 86863478 86863478 deletion of <=200bp T - intron_variant MALY-DE X 86863488 86863488 single base substitution C T intron_variant MALY-DE X 86863493 86863493 single base substitution G A intron_variant MALY-DE X 86865771 86865771 single base substitution T C intron_variant MALY-DE X 86867673 86867673 single base substitution T G intron_variant MALY-DE X 86868180 86868180 single base substitution T G intron_variant MALY-DE X 86869957 86869957 single base substitution T G intron_variant MALY-DE X 86871388 86871388 single base substitution C A intron_variant MALY-DE X 86872730 86872730 single base substitution T A intron_variant MALY-DE X 86874727 86874727 single base substitution C G intron_variant MALY-DE X 86874758 86874758 single base substitution C T intron_variant MALY-DE X 86875074 86875074 single base substitution G A intron_variant MALY-DE X 86877291 86877291 single base substitution T A missense_variant D335E 1005T>A MALY-DE X 86877507 86877507 insertion of <=200bp - T intron_variant MALY-DE X 86877921 86877921 single base substitution G T intron_variant MALY-DE X 86878704 86878704 single base substitution T A intron_variant MALY-DE X 86879050 86879050 single base substitution G A intron_variant MALY-DE X 86879412 86879412 single base substitution A T intron_variant MALY-DE X 86881292 86881292 single base substitution G A intron_variant MALY-DE X 86881424 86881424 single base substitution C A intron_variant MALY-DE X 86881578 86881578 single base substitution T G intron_variant MALY-DE X 86883466 86883466 single base substitution A C intron_variant MALY-DE X 86883513 86883513 single base substitution A T intron_variant MALY-DE X 86884145 86884145 single base substitution A C intron_variant MALY-DE X 86885766 86885766 single base substitution T G intron_variant MALY-DE X 86886060 86886060 single base substitution T G intron_variant MALY-DE X 86887034 86887034 single base substitution G T intron_variant MALY-DE X 86889962 86889962 single base substitution T G intron_variant MALY-DE X 86890576 86890576 single base substitution G C missense_variant G576R 1726G>C MALY-DE X 86891064 86891064 single base substitution A G intron_variant MALY-DE X 86894892 86894892 single base substitution G T intron_variant MALY-DE X 86895931 86895931 single base substitution C A intron_variant MALY-DE X 86896663 86896663 single base substitution G C intron_variant MALY-DE X 86899053 86899053 single base substitution C T intron_variant MALY-DE X 86900080 86900080 single base substitution C T intron_variant MALY-DE X 86900345 86900345 single base substitution A G intron_variant MALY-DE X 86901072 86901072 single base substitution C A intron_variant MALY-DE X 86902035 86902035 single base substitution C T intron_variant MALY-DE X 86903703 86903703 single base substitution A C intron_variant MALY-DE X 86904489 86904489 single base substitution T A intron_variant MALY-DE X 86905803 86905803 single base substitution C A intron_variant MALY-DE X 86906821 86906821 single base substitution A C intron_variant MALY-DE X 86906885 86906885 single base substitution C T intron_variant MALY-DE X 86907871 86907871 single base substitution G T intron_variant MALY-DE X 86908781 86908781 single base substitution A G intron_variant MALY-DE X 86909490 86909493 deletion of <=200bp TGTG - intron_variant MALY-DE X 86911532 86911532 single base substitution T A intron_variant MALY-DE X 86913679 86913679 single base substitution T A intron_variant MALY-DE X 86914019 86914019 single base substitution T G intron_variant MALY-DE X 86914960 86914961 deletion of <=200bp GT - intron_variant MALY-DE X 86916713 86916713 single base substitution A T intron_variant MALY-DE X 86917289 86917289 single base substitution A T intron_variant MALY-DE X 86917522 86917522 single base substitution T C intron_variant MALY-DE X 86918092 86918092 single base substitution C A intron_variant MALY-DE X 86918711 86918711 single base substitution A C intron_variant MALY-DE X 86919106 86919106 single base substitution A C intron_variant MALY-DE X 86919444 86919444 single base substitution T C intron_variant MALY-DE X 86921158 86921158 single base substitution C A intron_variant MALY-DE X 86921872 86921872 single base substitution C A 3_prime_UTR_variant MALY-DE X 86921872 86921872 single base substitution C A intron_variant MALY-DE X 86921996 86921996 single base substitution T G 3_prime_UTR_variant MALY-DE X 86921996 86921996 single base substitution T G intron_variant MALY-DE X 86922130 86922130 single base substitution C T 3_prime_UTR_variant MALY-DE X 86922130 86922130 single base substitution C T intron_variant MALY-DE X 86923411 86923411 single base substitution A T 3_prime_UTR_variant MALY-DE X 86923411 86923411 single base substitution A T intron_variant MALY-DE X 86924219 86924219 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE X 86924219 86924219 insertion of <=200bp - T intron_variant MALY-DE X 86924304 86924304 single base substitution C G 3_prime_UTR_variant MALY-DE X 86924304 86924304 single base substitution C G intron_variant MALY-DE X 86924725 86924725 single base substitution T C 3_prime_UTR_variant MALY-DE X 86924725 86924725 single base substitution T C downstream_gene_variant MALY-DE X 86926413 86926413 single base substitution C T downstream_gene_variant MALY-DE X 86926597 86926597 deletion of <=200bp A - downstream_gene_variant MALY-DE X 86927781 86927781 single base substitution G T downstream_gene_variant MALY-DE X 86928365 86928365 single base substitution G A downstream_gene_variant MELA-AU X 86767870 86767870 single base substitution G A upstream_gene_variant MELA-AU X 86767889 86767889 single base substitution C T upstream_gene_variant MELA-AU X 86768019 86768019 single base substitution G A upstream_gene_variant MELA-AU X 86768034 86768034 single base substitution T G upstream_gene_variant MELA-AU X 86768072 86768072 single base substitution G A upstream_gene_variant MELA-AU X 86768110 86768110 single base substitution A G upstream_gene_variant MELA-AU X 86768221 86768221 single base substitution T G upstream_gene_variant MELA-AU X 86768437 86768437 single base substitution C T upstream_gene_variant MELA-AU X 86768500 86768500 single base substitution G A upstream_gene_variant MELA-AU X 86768585 86768585 single base substitution T A upstream_gene_variant MELA-AU X 86768587 86768587 single base substitution C T upstream_gene_variant MELA-AU X 86768623 86768623 single base substitution C T upstream_gene_variant MELA-AU X 86768643 86768643 single base substitution A G upstream_gene_variant MELA-AU X 86768765 86768765 single base substitution G A upstream_gene_variant MELA-AU X 86768965 86768965 single base substitution G A upstream_gene_variant MELA-AU X 86769372 86769372 single base substitution C A upstream_gene_variant MELA-AU X 86769634 86769634 single base substitution C T upstream_gene_variant MELA-AU X 86770298 86770298 single base substitution C T upstream_gene_variant MELA-AU X 86770435 86770435 single base substitution G A upstream_gene_variant MELA-AU X 86770574 86770574 single base substitution G A upstream_gene_variant MELA-AU X 86770793 86770793 single base substitution G A upstream_gene_variant MELA-AU X 86770942 86770943 multiple base substitution (>=2bp and <=200bp) CA AC upstream_gene_variant MELA-AU X 86770983 86770983 single base substitution G A upstream_gene_variant MELA-AU X 86771008 86771008 single base substitution G A upstream_gene_variant MELA-AU X 86771150 86771150 single base substitution G A upstream_gene_variant MELA-AU X 86771188 86771188 single base substitution G A upstream_gene_variant MELA-AU X 86771427 86771427 single base substitution G A upstream_gene_variant MELA-AU X 86771551 86771551 single base substitution C T upstream_gene_variant MELA-AU X 86771715 86771715 single base substitution G A upstream_gene_variant MELA-AU X 86771761 86771761 single base substitution G A upstream_gene_variant MELA-AU X 86771907 86771907 single base substitution T C upstream_gene_variant MELA-AU X 86772014 86772014 single base substitution G A upstream_gene_variant MELA-AU X 86772156 86772156 single base substitution G A upstream_gene_variant MELA-AU X 86772295 86772295 single base substitution C T upstream_gene_variant MELA-AU X 86772458 86772458 single base substitution G A upstream_gene_variant MELA-AU X 86773011 86773011 single base substitution G A missense_variant E39K 115G>A MELA-AU X 86773187 86773187 single base substitution A G missense_variant I97M 291A>G MELA-AU X 86773416 86773416 single base substitution C T intron_variant MELA-AU X 86773461 86773461 single base substitution C T intron_variant MELA-AU X 86773521 86773521 single base substitution T G intron_variant MELA-AU X 86773734 86773734 single base substitution T C intron_variant MELA-AU X 86773798 86773798 single base substitution C T intron_variant MELA-AU X 86774019 86774019 single base substitution C T intron_variant MELA-AU X 86774309 86774309 single base substitution G A intron_variant MELA-AU X 86774471 86774471 single base substitution A C intron_variant MELA-AU X 86774981 86774981 single base substitution C T intron_variant MELA-AU X 86775009 86775009 single base substitution T A intron_variant MELA-AU X 86775046 86775046 single base substitution C T intron_variant MELA-AU X 86775134 86775134 single base substitution G A intron_variant MELA-AU X 86775176 86775176 single base substitution C T intron_variant MELA-AU X 86775282 86775282 single base substitution G A intron_variant MELA-AU X 86775480 86775480 single base substitution G A intron_variant MELA-AU X 86775535 86775535 single base substitution G A intron_variant MELA-AU X 86775722 86775722 single base substitution C T intron_variant MELA-AU X 86775920 86775920 single base substitution A G intron_variant MELA-AU X 86775974 86775974 single base substitution G A intron_variant MELA-AU X 86775993 86775993 single base substitution C T intron_variant MELA-AU X 86776006 86776006 single base substitution G A intron_variant MELA-AU X 86776115 86776115 single base substitution G A intron_variant MELA-AU X 86776280 86776280 single base substitution A T intron_variant MELA-AU X 86776374 86776374 single base substitution A G intron_variant MELA-AU X 86776428 86776428 single base substitution G A intron_variant MELA-AU X 86776488 86776488 single base substitution G A intron_variant MELA-AU X 86776561 86776561 single base substitution G A intron_variant MELA-AU X 86776640 86776640 single base substitution G A intron_variant MELA-AU X 86776727 86776727 single base substitution C T intron_variant MELA-AU X 86776945 86776945 single base substitution C T intron_variant MELA-AU X 86776947 86776947 single base substitution G A intron_variant MELA-AU X 86777012 86777012 single base substitution A G intron_variant MELA-AU X 86777222 86777223 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 86777464 86777464 single base substitution C T intron_variant MELA-AU X 86777504 86777504 single base substitution T G intron_variant MELA-AU X 86777694 86777694 single base substitution G A intron_variant MELA-AU X 86777774 86777774 single base substitution A G intron_variant MELA-AU X 86777856 86777856 single base substitution C T intron_variant MELA-AU X 86777964 86777964 single base substitution G A intron_variant MELA-AU X 86778392 86778392 single base substitution C T intron_variant MELA-AU X 86778393 86778393 single base substitution G A intron_variant MELA-AU X 86778405 86778405 single base substitution G A intron_variant MELA-AU X 86778535 86778535 single base substitution G A intron_variant MELA-AU X 86778732 86778732 single base substitution G A intron_variant MELA-AU X 86778763 86778763 single base substitution C T intron_variant MELA-AU X 86778959 86778959 single base substitution C T intron_variant MELA-AU X 86779000 86779000 single base substitution G A intron_variant MELA-AU X 86779053 86779053 single base substitution G A intron_variant MELA-AU X 86779133 86779133 single base substitution G A intron_variant MELA-AU X 86779183 86779183 single base substitution G A intron_variant MELA-AU X 86779490 86779490 single base substitution C T intron_variant MELA-AU X 86779656 86779656 single base substitution G A intron_variant MELA-AU X 86779771 86779771 single base substitution A T intron_variant MELA-AU X 86780074 86780074 single base substitution C T intron_variant MELA-AU X 86780138 86780138 single base substitution C T intron_variant MELA-AU X 86780365 86780365 single base substitution A T intron_variant MELA-AU X 86780418 86780418 single base substitution C T intron_variant MELA-AU X 86780783 86780783 single base substitution T G intron_variant MELA-AU X 86781028 86781028 single base substitution C T intron_variant MELA-AU X 86781349 86781349 single base substitution G A intron_variant MELA-AU X 86781404 86781404 single base substitution C T intron_variant MELA-AU X 86781634 86781634 single base substitution G A intron_variant MELA-AU X 86781687 86781687 single base substitution G A intron_variant MELA-AU X 86781699 86781699 single base substitution G A intron_variant MELA-AU X 86781748 86781748 single base substitution G A intron_variant MELA-AU X 86781978 86781978 single base substitution G A intron_variant MELA-AU X 86782041 86782041 single base substitution G A intron_variant MELA-AU X 86782049 86782049 single base substitution G A intron_variant MELA-AU X 86782143 86782143 single base substitution C T intron_variant MELA-AU X 86782224 86782224 single base substitution G A intron_variant MELA-AU X 86782386 86782386 single base substitution C T intron_variant MELA-AU X 86782495 86782495 single base substitution C T intron_variant MELA-AU X 86782609 86782610 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU X 86782651 86782651 single base substitution C T intron_variant MELA-AU X 86782677 86782677 single base substitution C T intron_variant MELA-AU X 86782681 86782681 single base substitution C T intron_variant MELA-AU X 86782817 86782817 single base substitution G A intron_variant MELA-AU X 86782945 86782945 single base substitution G A intron_variant MELA-AU X 86782973 86782973 single base substitution C T intron_variant MELA-AU X 86783022 86783023 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 86783036 86783036 single base substitution G A intron_variant MELA-AU X 86783102 86783102 single base substitution G A intron_variant MELA-AU X 86783154 86783154 single base substitution G A intron_variant MELA-AU X 86783220 86783220 single base substitution G A intron_variant MELA-AU X 86783243 86783243 single base substitution C T intron_variant MELA-AU X 86783372 86783372 single base substitution G A intron_variant MELA-AU X 86783539 86783539 single base substitution G A intron_variant MELA-AU X 86783546 86783546 single base substitution C T intron_variant MELA-AU X 86783969 86783969 single base substitution C T intron_variant MELA-AU X 86783979 86783979 single base substitution G A intron_variant MELA-AU X 86784078 86784078 single base substitution A C intron_variant MELA-AU X 86784166 86784166 single base substitution G A intron_variant MELA-AU X 86784386 86784386 single base substitution G A intron_variant MELA-AU X 86784479 86784479 single base substitution A T intron_variant MELA-AU X 86784481 86784481 single base substitution G A intron_variant MELA-AU X 86784548 86784548 single base substitution C T intron_variant MELA-AU X 86784596 86784596 single base substitution C T intron_variant MELA-AU X 86784781 86784781 single base substitution T A intron_variant MELA-AU X 86784897 86784897 single base substitution C T intron_variant MELA-AU X 86785281 86785281 single base substitution T A intron_variant MELA-AU X 86786016 86786016 single base substitution G A intron_variant MELA-AU X 86786085 86786085 single base substitution C T intron_variant MELA-AU X 86786379 86786379 single base substitution C T intron_variant MELA-AU X 86786504 86786504 single base substitution G A intron_variant MELA-AU X 86787092 86787092 single base substitution C T intron_variant MELA-AU X 86787300 86787300 single base substitution C T intron_variant MELA-AU X 86787440 86787440 single base substitution G A intron_variant MELA-AU X 86787459 86787459 single base substitution T C intron_variant MELA-AU X 86788532 86788532 single base substitution G A intron_variant MELA-AU X 86788590 86788590 single base substitution G A intron_variant MELA-AU X 86788598 86788598 single base substitution C T intron_variant MELA-AU X 86788615 86788615 single base substitution A G intron_variant MELA-AU X 86788731 86788731 single base substitution C T intron_variant MELA-AU X 86788818 86788818 single base substitution C T intron_variant MELA-AU X 86788972 86788972 single base substitution G A intron_variant MELA-AU X 86789140 86789140 single base substitution G A intron_variant MELA-AU X 86789200 86789200 single base substitution C T intron_variant MELA-AU X 86789230 86789230 single base substitution C T intron_variant MELA-AU X 86789329 86789329 single base substitution G A intron_variant MELA-AU X 86789665 86789665 single base substitution A T intron_variant MELA-AU X 86789861 86789861 single base substitution A G intron_variant MELA-AU X 86790084 86790084 single base substitution C T intron_variant MELA-AU X 86790148 86790148 single base substitution T A intron_variant MELA-AU X 86790150 86790150 single base substitution C T intron_variant MELA-AU X 86790213 86790213 single base substitution G A intron_variant MELA-AU X 86790224 86790224 single base substitution G A intron_variant MELA-AU X 86790273 86790273 single base substitution C T intron_variant MELA-AU X 86790500 86790500 single base substitution C T intron_variant MELA-AU X 86790749 86790749 single base substitution G A intron_variant MELA-AU X 86790778 86790778 single base substitution C T intron_variant MELA-AU X 86790802 86790802 single base substitution T G intron_variant MELA-AU X 86790820 86790820 single base substitution C T intron_variant MELA-AU X 86790914 86790914 single base substitution C T intron_variant MELA-AU X 86791118 86791118 single base substitution G A intron_variant MELA-AU X 86791134 86791134 single base substitution C T intron_variant MELA-AU X 86791270 86791270 single base substitution C T intron_variant MELA-AU X 86791335 86791335 single base substitution G A intron_variant MELA-AU X 86791587 86791587 single base substitution C T intron_variant MELA-AU X 86791595 86791595 single base substitution G A intron_variant MELA-AU X 86791650 86791650 single base substitution C T intron_variant MELA-AU X 86791669 86791669 single base substitution C T intron_variant MELA-AU X 86791755 86791755 single base substitution G A intron_variant MELA-AU X 86791820 86791820 single base substitution T C intron_variant MELA-AU X 86791845 86791845 single base substitution T C intron_variant MELA-AU X 86792071 86792071 single base substitution A T intron_variant MELA-AU X 86792285 86792285 single base substitution G A intron_variant MELA-AU X 86792368 86792368 single base substitution G A intron_variant MELA-AU X 86792434 86792434 single base substitution G A intron_variant MELA-AU X 86792452 86792452 single base substitution C T intron_variant MELA-AU X 86792706 86792706 single base substitution A G intron_variant MELA-AU X 86792811 86792811 single base substitution G A intron_variant MELA-AU X 86792902 86792902 single base substitution C T intron_variant MELA-AU X 86793010 86793010 single base substitution T C intron_variant MELA-AU X 86793094 86793094 single base substitution C T intron_variant MELA-AU X 86793205 86793205 single base substitution G A intron_variant MELA-AU X 86793370 86793370 single base substitution C T intron_variant MELA-AU X 86793661 86793661 single base substitution G A intron_variant MELA-AU X 86793796 86793796 single base substitution G A intron_variant MELA-AU X 86793979 86793979 single base substitution C T intron_variant MELA-AU X 86794076 86794076 single base substitution G A intron_variant MELA-AU X 86794306 86794306 single base substitution C T intron_variant MELA-AU X 86794905 86794905 single base substitution C G intron_variant MELA-AU X 86794908 86794908 single base substitution C T intron_variant MELA-AU X 86794927 86794927 single base substitution A T intron_variant MELA-AU X 86795014 86795014 single base substitution G A intron_variant MELA-AU X 86795153 86795153 single base substitution G A intron_variant MELA-AU X 86795513 86795513 single base substitution G A intron_variant MELA-AU X 86796122 86796122 single base substitution G A intron_variant MELA-AU X 86796140 86796140 single base substitution C T intron_variant MELA-AU X 86796189 86796189 single base substitution G A intron_variant MELA-AU X 86796237 86796237 single base substitution C T intron_variant MELA-AU X 86796342 86796342 single base substitution G A intron_variant MELA-AU X 86796442 86796442 single base substitution C T intron_variant MELA-AU X 86796481 86796481 single base substitution G A intron_variant MELA-AU X 86796612 86796612 single base substitution C T intron_variant MELA-AU X 86796742 86796742 single base substitution G A intron_variant MELA-AU X 86796870 86796870 single base substitution G A intron_variant MELA-AU X 86796965 86796965 single base substitution G A intron_variant MELA-AU X 86796967 86796967 single base substitution G A intron_variant MELA-AU X 86796983 86796983 single base substitution C T intron_variant MELA-AU X 86796991 86796991 single base substitution C T intron_variant MELA-AU X 86797132 86797132 single base substitution C T intron_variant MELA-AU X 86797339 86797339 single base substitution G A intron_variant MELA-AU X 86797679 86797679 single base substitution C T intron_variant MELA-AU X 86797926 86797926 single base substitution G A intron_variant MELA-AU X 86797954 86797954 single base substitution G A intron_variant MELA-AU X 86797963 86797963 single base substitution G A intron_variant MELA-AU X 86797992 86797992 single base substitution C T intron_variant MELA-AU X 86798030 86798030 single base substitution G A intron_variant MELA-AU X 86798104 86798104 single base substitution C T intron_variant MELA-AU X 86798135 86798135 single base substitution C T intron_variant MELA-AU X 86798249 86798249 single base substitution G A intron_variant MELA-AU X 86798467 86798467 single base substitution G A intron_variant MELA-AU X 86798708 86798708 single base substitution G A intron_variant MELA-AU X 86798737 86798737 single base substitution G A intron_variant MELA-AU X 86799036 86799036 single base substitution C T intron_variant MELA-AU X 86799232 86799232 single base substitution C T intron_variant MELA-AU X 86799341 86799341 single base substitution C T intron_variant MELA-AU X 86799351 86799351 single base substitution C T intron_variant MELA-AU X 86799399 86799399 single base substitution C T intron_variant MELA-AU X 86799414 86799414 single base substitution G A intron_variant MELA-AU X 86799478 86799478 single base substitution G A intron_variant MELA-AU X 86799582 86799582 single base substitution C T intron_variant MELA-AU X 86799833 86799833 single base substitution G A intron_variant MELA-AU X 86799848 86799848 single base substitution A G intron_variant MELA-AU X 86799955 86799955 single base substitution G A intron_variant MELA-AU X 86800208 86800208 single base substitution G A intron_variant MELA-AU X 86800338 86800338 single base substitution G A intron_variant MELA-AU X 86800339 86800339 single base substitution G A intron_variant MELA-AU X 86800361 86800361 single base substitution G A intron_variant MELA-AU X 86800389 86800389 single base substitution G A intron_variant MELA-AU X 86800414 86800414 single base substitution T C intron_variant MELA-AU X 86800532 86800532 single base substitution C T intron_variant MELA-AU X 86800676 86800676 single base substitution G A intron_variant MELA-AU X 86800743 86800743 single base substitution G A intron_variant MELA-AU X 86800753 86800753 single base substitution G A intron_variant MELA-AU X 86800815 86800815 single base substitution G A intron_variant MELA-AU X 86800885 86800885 single base substitution G C intron_variant MELA-AU X 86800947 86800947 single base substitution G A intron_variant MELA-AU X 86800999 86800999 single base substitution G A intron_variant MELA-AU X 86801144 86801144 single base substitution G A intron_variant MELA-AU X 86801159 86801159 single base substitution C T intron_variant MELA-AU X 86801174 86801174 single base substitution G A intron_variant MELA-AU X 86801217 86801217 single base substitution G A intron_variant MELA-AU X 86801229 86801229 single base substitution G A intron_variant MELA-AU X 86801382 86801382 single base substitution C T intron_variant MELA-AU X 86801385 86801385 single base substitution G A intron_variant MELA-AU X 86801428 86801428 single base substitution A C intron_variant MELA-AU X 86801471 86801471 single base substitution G A intron_variant MELA-AU X 86801541 86801541 single base substitution G A intron_variant MELA-AU X 86801671 86801671 single base substitution G A intron_variant MELA-AU X 86801700 86801700 single base substitution T G intron_variant MELA-AU X 86801840 86801840 single base substitution G A intron_variant MELA-AU X 86801897 86801897 single base substitution C T intron_variant MELA-AU X 86801912 86801912 single base substitution C T intron_variant MELA-AU X 86802049 86802049 single base substitution C T intron_variant MELA-AU X 86802058 86802058 single base substitution C T intron_variant MELA-AU X 86802193 86802193 single base substitution C T intron_variant MELA-AU X 86802279 86802279 single base substitution C T intron_variant MELA-AU X 86802284 86802284 single base substitution G A intron_variant MELA-AU X 86802313 86802313 single base substitution C T intron_variant MELA-AU X 86802316 86802316 single base substitution C T intron_variant MELA-AU X 86802419 86802419 single base substitution G A intron_variant MELA-AU X 86802489 86802489 single base substitution G A intron_variant MELA-AU X 86802506 86802506 single base substitution G A intron_variant MELA-AU X 86802517 86802517 single base substitution C T intron_variant MELA-AU X 86802707 86802707 single base substitution C T intron_variant MELA-AU X 86802878 86802878 single base substitution A G intron_variant MELA-AU X 86803592 86803592 single base substitution A G intron_variant MELA-AU X 86803653 86803653 single base substitution A T intron_variant MELA-AU X 86803685 86803685 single base substitution G A intron_variant MELA-AU X 86803749 86803749 single base substitution C A intron_variant MELA-AU X 86803831 86803831 single base substitution G A intron_variant MELA-AU X 86803950 86803950 single base substitution G A intron_variant MELA-AU X 86804087 86804087 single base substitution C T intron_variant MELA-AU X 86804099 86804099 single base substitution G A intron_variant MELA-AU X 86804192 86804192 single base substitution G A intron_variant MELA-AU X 86804369 86804369 single base substitution C T intron_variant MELA-AU X 86804452 86804452 single base substitution C T intron_variant MELA-AU X 86804496 86804496 single base substitution T A intron_variant MELA-AU X 86804579 86804579 single base substitution C T intron_variant MELA-AU X 86804689 86804689 single base substitution G A intron_variant MELA-AU X 86804701 86804701 single base substitution G A intron_variant MELA-AU X 86804708 86804708 single base substitution A G intron_variant MELA-AU X 86804822 86804822 single base substitution G A intron_variant MELA-AU X 86804823 86804823 single base substitution G A intron_variant MELA-AU X 86804898 86804898 single base substitution T G intron_variant MELA-AU X 86804955 86804955 single base substitution C T intron_variant MELA-AU X 86805015 86805015 single base substitution T A intron_variant MELA-AU X 86805105 86805105 single base substitution G A intron_variant MELA-AU X 86805148 86805148 single base substitution G A intron_variant MELA-AU X 86805174 86805174 single base substitution C T intron_variant MELA-AU X 86805211 86805211 single base substitution G A intron_variant MELA-AU X 86805374 86805374 single base substitution A C intron_variant MELA-AU X 86805452 86805452 single base substitution C T intron_variant MELA-AU X 86805502 86805502 single base substitution C T intron_variant MELA-AU X 86805541 86805541 single base substitution G A intron_variant MELA-AU X 86805741 86805741 single base substitution G A intron_variant MELA-AU X 86805859 86805859 single base substitution C T intron_variant MELA-AU X 86805887 86805887 single base substitution C T intron_variant MELA-AU X 86805994 86805994 single base substitution G A intron_variant MELA-AU X 86806001 86806001 single base substitution C T intron_variant MELA-AU X 86806053 86806053 single base substitution A G intron_variant MELA-AU X 86806093 86806093 single base substitution A T intron_variant MELA-AU X 86806252 86806252 single base substitution C T intron_variant MELA-AU X 86806346 86806346 single base substitution A T intron_variant MELA-AU X 86806389 86806389 single base substitution G A intron_variant MELA-AU X 86806415 86806415 single base substitution T C intron_variant MELA-AU X 86806461 86806461 single base substitution G A intron_variant MELA-AU X 86806504 86806504 single base substitution C T intron_variant MELA-AU X 86806576 86806576 single base substitution A G intron_variant MELA-AU X 86806622 86806622 single base substitution A T intron_variant MELA-AU X 86806649 86806649 single base substitution C T intron_variant MELA-AU X 86806664 86806664 single base substitution G T intron_variant MELA-AU X 86806808 86806808 single base substitution G A intron_variant MELA-AU X 86806898 86806898 single base substitution A T intron_variant MELA-AU X 86807010 86807010 single base substitution C T intron_variant MELA-AU X 86807457 86807457 single base substitution G A intron_variant MELA-AU X 86807649 86807649 single base substitution G A intron_variant MELA-AU X 86807983 86807983 single base substitution G T intron_variant MELA-AU X 86807984 86807984 single base substitution G A intron_variant MELA-AU X 86808097 86808097 single base substitution C T intron_variant MELA-AU X 86808105 86808105 single base substitution A T intron_variant MELA-AU X 86808298 86808298 single base substitution C T intron_variant MELA-AU X 86808363 86808363 single base substitution A T intron_variant MELA-AU X 86808597 86808597 single base substitution C T intron_variant MELA-AU X 86808675 86808675 single base substitution C T intron_variant MELA-AU X 86808842 86808842 single base substitution T A intron_variant MELA-AU X 86808975 86808975 single base substitution G A intron_variant MELA-AU X 86808985 86808985 single base substitution C T intron_variant MELA-AU X 86809006 86809006 single base substitution G A intron_variant MELA-AU X 86809552 86809552 single base substitution G A intron_variant MELA-AU X 86810006 86810006 single base substitution T C intron_variant MELA-AU X 86810037 86810037 single base substitution A G intron_variant MELA-AU X 86810138 86810138 single base substitution G A intron_variant MELA-AU X 86810290 86810290 single base substitution G A intron_variant MELA-AU X 86811248 86811248 single base substitution C T intron_variant MELA-AU X 86811282 86811282 single base substitution C T intron_variant MELA-AU X 86811299 86811299 single base substitution G A intron_variant MELA-AU X 86811376 86811376 single base substitution G C intron_variant MELA-AU X 86811398 86811398 single base substitution C T intron_variant MELA-AU X 86811738 86811738 single base substitution T A intron_variant MELA-AU X 86811815 86811815 single base substitution C T intron_variant MELA-AU X 86811910 86811910 single base substitution G A intron_variant MELA-AU X 86811969 86811969 single base substitution C T intron_variant MELA-AU X 86812241 86812241 single base substitution C T intron_variant MELA-AU X 86812495 86812495 single base substitution G A intron_variant MELA-AU X 86812692 86812692 single base substitution A T intron_variant MELA-AU X 86812728 86812728 single base substitution G A intron_variant MELA-AU X 86812762 86812762 single base substitution G A intron_variant MELA-AU X 86812820 86812820 single base substitution G A intron_variant MELA-AU X 86812825 86812825 single base substitution G A intron_variant MELA-AU X 86812847 86812847 single base substitution C T intron_variant MELA-AU X 86812966 86812966 single base substitution G A intron_variant MELA-AU X 86813078 86813078 single base substitution C T intron_variant MELA-AU X 86813328 86813328 single base substitution T C intron_variant MELA-AU X 86813361 86813361 single base substitution A T intron_variant MELA-AU X 86813421 86813421 single base substitution C T intron_variant MELA-AU X 86813667 86813667 single base substitution C T intron_variant MELA-AU X 86813691 86813691 single base substitution C T intron_variant MELA-AU X 86813700 86813700 single base substitution C T intron_variant MELA-AU X 86813738 86813738 single base substitution C T intron_variant MELA-AU X 86813843 86813843 single base substitution G A intron_variant MELA-AU X 86813987 86813987 single base substitution A T intron_variant MELA-AU X 86814000 86814000 single base substitution G A intron_variant MELA-AU X 86814001 86814001 single base substitution G A intron_variant MELA-AU X 86814003 86814003 single base substitution C T intron_variant MELA-AU X 86814061 86814061 single base substitution G A intron_variant MELA-AU X 86814377 86814377 single base substitution C T intron_variant MELA-AU X 86814403 86814403 single base substitution G A intron_variant MELA-AU X 86814464 86814464 single base substitution G A intron_variant MELA-AU X 86814646 86814646 single base substitution C T intron_variant MELA-AU X 86814858 86814858 single base substitution G A intron_variant MELA-AU X 86815181 86815181 single base substitution C T intron_variant MELA-AU X 86815317 86815317 single base substitution C T intron_variant MELA-AU X 86815383 86815383 single base substitution C T intron_variant MELA-AU X 86815440 86815440 single base substitution G A intron_variant MELA-AU X 86815513 86815513 single base substitution A T intron_variant MELA-AU X 86815516 86815516 single base substitution C T intron_variant MELA-AU X 86815742 86815742 single base substitution A T intron_variant MELA-AU X 86815792 86815792 single base substitution C T intron_variant MELA-AU X 86816268 86816268 single base substitution G A intron_variant MELA-AU X 86816377 86816377 single base substitution G A intron_variant MELA-AU X 86816471 86816471 single base substitution G A intron_variant MELA-AU X 86816594 86816594 single base substitution C A intron_variant MELA-AU X 86816630 86816630 single base substitution C T intron_variant MELA-AU X 86816687 86816687 single base substitution G A intron_variant MELA-AU X 86816765 86816765 single base substitution G A intron_variant MELA-AU X 86816920 86816920 single base substitution C T intron_variant MELA-AU X 86816984 86816984 single base substitution G A intron_variant MELA-AU X 86817239 86817239 single base substitution G A intron_variant MELA-AU X 86817241 86817241 single base substitution G A intron_variant MELA-AU X 86817267 86817267 single base substitution C T intron_variant MELA-AU X 86817327 86817327 single base substitution C T intron_variant MELA-AU X 86817343 86817343 single base substitution G A intron_variant MELA-AU X 86817346 86817346 single base substitution G A intron_variant MELA-AU X 86817400 86817400 single base substitution G A intron_variant MELA-AU X 86817416 86817416 single base substitution G A intron_variant MELA-AU X 86817443 86817443 single base substitution C T intron_variant MELA-AU X 86817545 86817545 single base substitution G A intron_variant MELA-AU X 86817590 86817590 single base substitution A C intron_variant MELA-AU X 86817630 86817630 single base substitution C T intron_variant MELA-AU X 86817834 86817834 single base substitution T A intron_variant MELA-AU X 86817879 86817880 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU X 86817932 86817932 single base substitution T A intron_variant MELA-AU X 86817950 86817950 single base substitution G A intron_variant MELA-AU X 86817954 86817954 single base substitution G A intron_variant MELA-AU X 86817996 86817996 single base substitution C T intron_variant MELA-AU X 86817997 86817997 single base substitution C T intron_variant MELA-AU X 86818080 86818080 single base substitution G A intron_variant MELA-AU X 86818107 86818107 single base substitution G A intron_variant MELA-AU X 86818131 86818131 single base substitution A T intron_variant MELA-AU X 86818245 86818245 single base substitution G A intron_variant MELA-AU X 86818246 86818246 single base substitution G A intron_variant MELA-AU X 86818275 86818275 single base substitution C T intron_variant MELA-AU X 86818313 86818313 single base substitution G A intron_variant MELA-AU X 86818387 86818387 single base substitution G A intron_variant MELA-AU X 86818479 86818479 single base substitution C T intron_variant MELA-AU X 86818599 86818599 single base substitution C T intron_variant MELA-AU X 86818600 86818600 single base substitution C T intron_variant MELA-AU X 86818765 86818765 single base substitution G A intron_variant MELA-AU X 86818808 86818808 single base substitution G A intron_variant MELA-AU X 86818966 86818966 single base substitution G A intron_variant MELA-AU X 86818967 86818967 single base substitution G A intron_variant MELA-AU X 86819191 86819191 single base substitution T A intron_variant MELA-AU X 86819300 86819300 single base substitution G A intron_variant MELA-AU X 86819325 86819325 single base substitution T C intron_variant MELA-AU X 86819331 86819331 single base substitution T C intron_variant MELA-AU X 86819386 86819386 single base substitution G A intron_variant MELA-AU X 86819413 86819413 single base substitution G A intron_variant MELA-AU X 86819423 86819423 single base substitution G A intron_variant MELA-AU X 86819507 86819507 single base substitution G A intron_variant MELA-AU X 86819901 86819901 single base substitution G A intron_variant MELA-AU X 86819907 86819907 single base substitution G A intron_variant MELA-AU X 86819968 86819968 single base substitution T A intron_variant MELA-AU X 86820095 86820095 single base substitution G A intron_variant MELA-AU X 86820096 86820096 single base substitution G A intron_variant MELA-AU X 86820114 86820114 single base substitution C T intron_variant MELA-AU X 86820189 86820189 single base substitution C T intron_variant MELA-AU X 86820202 86820202 single base substitution C T intron_variant MELA-AU X 86820205 86820205 single base substitution G A intron_variant MELA-AU X 86820257 86820257 single base substitution G A intron_variant MELA-AU X 86820452 86820452 single base substitution C T intron_variant MELA-AU X 86820795 86820795 single base substitution C T intron_variant MELA-AU X 86820825 86820825 single base substitution G A intron_variant MELA-AU X 86820901 86820901 single base substitution T C intron_variant MELA-AU X 86820940 86820940 single base substitution G A intron_variant MELA-AU X 86820968 86820968 single base substitution G A intron_variant MELA-AU X 86821181 86821181 single base substitution C T intron_variant MELA-AU X 86821205 86821205 single base substitution G A intron_variant MELA-AU X 86821216 86821216 single base substitution G A intron_variant MELA-AU X 86821375 86821375 single base substitution G A intron_variant MELA-AU X 86821413 86821413 single base substitution A T intron_variant MELA-AU X 86821507 86821507 single base substitution C T intron_variant MELA-AU X 86821754 86821754 single base substitution G A intron_variant MELA-AU X 86821889 86821889 single base substitution G A intron_variant MELA-AU X 86821915 86821915 single base substitution G A intron_variant MELA-AU X 86821968 86821968 deletion of <=200bp T - intron_variant MELA-AU X 86822054 86822054 single base substitution C T intron_variant MELA-AU X 86822163 86822163 single base substitution G A intron_variant MELA-AU X 86822253 86822253 single base substitution G A intron_variant MELA-AU X 86822265 86822265 single base substitution G A intron_variant MELA-AU X 86822498 86822498 single base substitution G A intron_variant MELA-AU X 86822557 86822557 single base substitution C T intron_variant MELA-AU X 86822694 86822694 single base substitution G A intron_variant MELA-AU X 86822812 86822812 single base substitution G A intron_variant MELA-AU X 86822858 86822858 single base substitution T C intron_variant MELA-AU X 86822882 86822882 single base substitution G A intron_variant MELA-AU X 86822969 86822969 single base substitution G A intron_variant MELA-AU X 86823037 86823037 single base substitution G A intron_variant MELA-AU X 86823106 86823106 single base substitution C T intron_variant MELA-AU X 86823259 86823259 single base substitution G A intron_variant MELA-AU X 86823660 86823660 single base substitution C T intron_variant MELA-AU X 86823747 86823747 single base substitution G A intron_variant MELA-AU X 86823749 86823749 single base substitution G A intron_variant MELA-AU X 86823856 86823856 single base substitution G A intron_variant MELA-AU X 86824012 86824012 single base substitution G A intron_variant MELA-AU X 86824049 86824049 single base substitution G A intron_variant MELA-AU X 86824053 86824053 single base substitution G A intron_variant MELA-AU X 86824109 86824109 single base substitution G A intron_variant MELA-AU X 86824151 86824151 single base substitution C T intron_variant MELA-AU X 86824170 86824170 single base substitution C T intron_variant MELA-AU X 86824243 86824243 single base substitution G A intron_variant MELA-AU X 86824314 86824314 single base substitution G A intron_variant MELA-AU X 86824351 86824351 single base substitution G A intron_variant MELA-AU X 86824579 86824579 single base substitution G A intron_variant MELA-AU X 86824601 86824601 single base substitution G A intron_variant MELA-AU X 86824656 86824656 single base substitution G A intron_variant MELA-AU X 86824712 86824712 single base substitution G A intron_variant MELA-AU X 86824778 86824778 single base substitution C T intron_variant MELA-AU X 86824931 86824931 single base substitution C T intron_variant MELA-AU X 86824981 86824981 single base substitution C T intron_variant MELA-AU X 86825030 86825030 single base substitution C T intron_variant MELA-AU X 86825138 86825138 single base substitution G A intron_variant MELA-AU X 86825153 86825153 single base substitution A C intron_variant MELA-AU X 86825157 86825157 single base substitution G A intron_variant MELA-AU X 86825517 86825517 single base substitution G A intron_variant MELA-AU X 86825796 86825796 single base substitution A C intron_variant MELA-AU X 86825861 86825861 single base substitution G A intron_variant MELA-AU X 86825869 86825869 single base substitution G A intron_variant MELA-AU X 86825968 86825968 single base substitution C T intron_variant MELA-AU X 86825994 86825994 single base substitution C T intron_variant MELA-AU X 86826163 86826163 single base substitution G A intron_variant MELA-AU X 86826336 86826336 single base substitution A G intron_variant MELA-AU X 86826587 86826587 single base substitution G A intron_variant MELA-AU X 86826660 86826660 single base substitution C T intron_variant MELA-AU X 86826742 86826742 single base substitution G A intron_variant MELA-AU X 86826802 86826802 single base substitution C T intron_variant MELA-AU X 86826863 86826863 single base substitution G A intron_variant MELA-AU X 86827141 86827141 single base substitution G A intron_variant MELA-AU X 86827281 86827281 single base substitution G A intron_variant MELA-AU X 86827312 86827312 single base substitution C T intron_variant MELA-AU X 86827401 86827401 single base substitution C T intron_variant MELA-AU X 86827548 86827548 single base substitution G A intron_variant MELA-AU X 86827760 86827760 single base substitution C T intron_variant MELA-AU X 86827862 86827862 single base substitution G A intron_variant MELA-AU X 86828217 86828217 single base substitution G A intron_variant MELA-AU X 86828240 86828240 single base substitution C T intron_variant MELA-AU X 86828273 86828273 single base substitution G T intron_variant MELA-AU X 86828373 86828373 single base substitution G A intron_variant MELA-AU X 86828471 86828471 single base substitution G A intron_variant MELA-AU X 86828563 86828563 single base substitution G A intron_variant MELA-AU X 86828628 86828628 single base substitution G A intron_variant MELA-AU X 86828760 86828760 single base substitution G A intron_variant MELA-AU X 86829102 86829102 single base substitution C T intron_variant MELA-AU X 86829199 86829199 single base substitution G A intron_variant MELA-AU X 86829206 86829206 single base substitution C T intron_variant MELA-AU X 86829295 86829295 single base substitution G A intron_variant MELA-AU X 86829405 86829405 single base substitution G A intron_variant MELA-AU X 86829410 86829410 single base substitution G A intron_variant MELA-AU X 86829593 86829593 single base substitution C T intron_variant MELA-AU X 86830070 86830070 single base substitution G A intron_variant MELA-AU X 86830091 86830091 single base substitution G A intron_variant MELA-AU X 86830156 86830156 single base substitution C T intron_variant MELA-AU X 86830191 86830192 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU X 86830200 86830200 single base substitution G A intron_variant MELA-AU X 86830437 86830437 single base substitution G A intron_variant MELA-AU X 86830454 86830454 single base substitution G A intron_variant MELA-AU X 86830484 86830484 single base substitution G A intron_variant MELA-AU X 86830568 86830568 single base substitution C T intron_variant MELA-AU X 86830587 86830587 single base substitution G A intron_variant MELA-AU X 86830742 86830742 single base substitution G A intron_variant MELA-AU X 86830840 86830840 single base substitution C T intron_variant MELA-AU X 86831027 86831028 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU X 86831250 86831250 single base substitution C T intron_variant MELA-AU X 86832013 86832013 single base substitution C T intron_variant MELA-AU X 86832276 86832276 single base substitution G A intron_variant MELA-AU X 86832297 86832297 single base substitution C T intron_variant MELA-AU X 86832446 86832446 single base substitution G A intron_variant MELA-AU X 86832520 86832520 single base substitution G A intron_variant MELA-AU X 86832711 86832711 single base substitution G A intron_variant MELA-AU X 86832717 86832717 single base substitution G A intron_variant MELA-AU X 86833063 86833063 single base substitution G A intron_variant MELA-AU X 86833067 86833067 single base substitution C T intron_variant MELA-AU X 86833107 86833107 single base substitution C A intron_variant MELA-AU X 86833128 86833128 single base substitution C T intron_variant MELA-AU X 86833142 86833142 single base substitution C T intron_variant MELA-AU X 86833199 86833199 single base substitution C T intron_variant MELA-AU X 86833305 86833305 single base substitution G A intron_variant MELA-AU X 86833478 86833478 single base substitution C T intron_variant MELA-AU X 86833580 86833580 single base substitution C T intron_variant MELA-AU X 86833582 86833582 single base substitution G A intron_variant MELA-AU X 86833681 86833681 single base substitution C T intron_variant MELA-AU X 86833714 86833714 single base substitution G A intron_variant MELA-AU X 86833729 86833729 single base substitution C T intron_variant MELA-AU X 86833977 86833977 single base substitution C T intron_variant MELA-AU X 86834024 86834024 single base substitution G A intron_variant MELA-AU X 86834053 86834053 single base substitution G A intron_variant MELA-AU X 86834080 86834080 single base substitution C T intron_variant MELA-AU X 86834138 86834138 single base substitution G A intron_variant MELA-AU X 86834181 86834181 single base substitution G A intron_variant MELA-AU X 86834195 86834195 single base substitution G A intron_variant MELA-AU X 86834203 86834203 single base substitution A G intron_variant MELA-AU X 86834338 86834338 single base substitution G A intron_variant MELA-AU X 86834412 86834412 single base substitution G A intron_variant MELA-AU X 86834479 86834479 single base substitution G A intron_variant MELA-AU X 86834758 86834758 single base substitution A T intron_variant MELA-AU X 86834820 86834820 single base substitution T A intron_variant MELA-AU X 86835162 86835162 single base substitution G T intron_variant MELA-AU X 86835269 86835269 single base substitution A G intron_variant MELA-AU X 86835299 86835299 single base substitution G A intron_variant MELA-AU X 86835455 86835455 single base substitution A G intron_variant MELA-AU X 86835508 86835508 single base substitution G A intron_variant MELA-AU X 86835707 86835707 single base substitution G A intron_variant MELA-AU X 86835806 86835806 single base substitution A T intron_variant MELA-AU X 86836024 86836024 single base substitution C T intron_variant MELA-AU X 86836117 86836117 single base substitution T C intron_variant MELA-AU X 86836208 86836208 single base substitution G A intron_variant MELA-AU X 86836339 86836339 single base substitution C T intron_variant MELA-AU X 86836505 86836505 single base substitution T C intron_variant MELA-AU X 86836634 86836634 single base substitution G A intron_variant MELA-AU X 86836657 86836657 single base substitution G A intron_variant MELA-AU X 86836659 86836659 single base substitution A T intron_variant MELA-AU X 86836698 86836698 single base substitution C T intron_variant MELA-AU X 86836806 86836806 single base substitution C T intron_variant MELA-AU X 86836847 86836847 single base substitution C T intron_variant MELA-AU X 86836869 86836869 single base substitution G A intron_variant MELA-AU X 86836893 86836893 single base substitution A T intron_variant MELA-AU X 86836929 86836929 single base substitution C T intron_variant MELA-AU X 86837050 86837050 single base substitution A G intron_variant MELA-AU X 86837228 86837228 single base substitution G A intron_variant MELA-AU X 86837516 86837516 single base substitution G A intron_variant MELA-AU X 86837987 86837987 single base substitution C T intron_variant MELA-AU X 86838095 86838095 single base substitution T A intron_variant MELA-AU X 86838127 86838127 single base substitution C T intron_variant MELA-AU X 86838237 86838237 single base substitution C T intron_variant MELA-AU X 86838550 86838550 single base substitution C T intron_variant MELA-AU X 86838561 86838561 single base substitution C T intron_variant MELA-AU X 86838584 86838584 single base substitution G A intron_variant MELA-AU X 86838607 86838607 single base substitution G A intron_variant MELA-AU X 86838800 86838800 single base substitution G A intron_variant MELA-AU X 86838875 86838875 single base substitution C T intron_variant MELA-AU X 86838907 86838907 single base substitution G A intron_variant MELA-AU X 86839046 86839046 single base substitution G A intron_variant MELA-AU X 86839047 86839047 single base substitution G A intron_variant MELA-AU X 86839055 86839055 single base substitution A G intron_variant MELA-AU X 86839115 86839115 single base substitution G A intron_variant MELA-AU X 86839212 86839212 single base substitution G A intron_variant MELA-AU X 86839364 86839364 single base substitution G A intron_variant MELA-AU X 86839388 86839388 single base substitution C T intron_variant MELA-AU X 86839484 86839484 single base substitution C T intron_variant MELA-AU X 86839485 86839485 single base substitution C T intron_variant MELA-AU X 86839492 86839492 single base substitution C T intron_variant MELA-AU X 86839547 86839547 single base substitution C T intron_variant MELA-AU X 86839726 86839726 single base substitution G A intron_variant MELA-AU X 86839791 86839791 single base substitution G A intron_variant MELA-AU X 86839804 86839804 single base substitution C T intron_variant MELA-AU X 86839854 86839854 single base substitution C T intron_variant MELA-AU X 86840165 86840165 single base substitution G A intron_variant MELA-AU X 86840201 86840201 single base substitution G A intron_variant MELA-AU X 86840277 86840277 single base substitution G A intron_variant MELA-AU X 86840330 86840330 single base substitution A T intron_variant MELA-AU X 86840398 86840398 single base substitution G A intron_variant MELA-AU X 86840439 86840439 single base substitution G A intron_variant MELA-AU X 86840700 86840700 single base substitution G A intron_variant MELA-AU X 86840708 86840708 single base substitution G A intron_variant MELA-AU X 86840913 86840913 single base substitution G A intron_variant MELA-AU X 86840925 86840925 single base substitution G A intron_variant MELA-AU X 86841016 86841016 single base substitution T A intron_variant MELA-AU X 86841026 86841026 single base substitution G A intron_variant MELA-AU X 86841330 86841330 single base substitution C T intron_variant MELA-AU X 86841525 86841525 single base substitution A G intron_variant MELA-AU X 86841557 86841557 single base substitution G A intron_variant MELA-AU X 86841624 86841624 single base substitution G A intron_variant MELA-AU X 86841870 86841870 single base substitution G A intron_variant MELA-AU X 86842136 86842136 single base substitution C T intron_variant MELA-AU X 86842145 86842145 single base substitution A T intron_variant MELA-AU X 86842374 86842374 single base substitution G A intron_variant MELA-AU X 86842554 86842554 single base substitution G A intron_variant MELA-AU X 86842748 86842748 single base substitution G A intron_variant MELA-AU X 86842868 86842869 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 86842890 86842890 single base substitution C T intron_variant MELA-AU X 86842964 86842964 single base substitution G A intron_variant MELA-AU X 86843104 86843104 single base substitution T G intron_variant MELA-AU X 86843119 86843119 single base substitution G A intron_variant MELA-AU X 86843306 86843306 single base substitution T G intron_variant MELA-AU X 86843545 86843545 single base substitution G A intron_variant MELA-AU X 86843579 86843579 single base substitution G A intron_variant MELA-AU X 86843646 86843646 single base substitution C T intron_variant MELA-AU X 86843927 86843927 single base substitution G A intron_variant MELA-AU X 86844070 86844070 single base substitution C T intron_variant MELA-AU X 86844193 86844193 single base substitution C T intron_variant MELA-AU X 86844329 86844329 single base substitution G A intron_variant MELA-AU X 86844545 86844545 single base substitution G A intron_variant MELA-AU X 86844645 86844645 single base substitution G A intron_variant MELA-AU X 86844696 86844696 single base substitution G A intron_variant MELA-AU X 86844713 86844713 deletion of <=200bp A - intron_variant MELA-AU X 86844827 86844827 single base substitution G A intron_variant MELA-AU X 86845164 86845164 single base substitution G A intron_variant MELA-AU X 86845188 86845188 single base substitution C T intron_variant MELA-AU X 86845195 86845195 single base substitution C T intron_variant MELA-AU X 86845321 86845321 single base substitution G A intron_variant MELA-AU X 86845335 86845335 single base substitution G A intron_variant MELA-AU X 86845711 86845711 single base substitution C T intron_variant MELA-AU X 86846131 86846131 single base substitution C T intron_variant MELA-AU X 86846260 86846260 single base substitution C T intron_variant MELA-AU X 86846333 86846333 single base substitution G A intron_variant MELA-AU X 86846349 86846349 single base substitution T A intron_variant MELA-AU X 86846979 86846979 single base substitution C T intron_variant MELA-AU X 86846999 86846999 single base substitution C T intron_variant MELA-AU X 86847009 86847009 single base substitution C T intron_variant MELA-AU X 86847010 86847010 single base substitution C T intron_variant MELA-AU X 86847019 86847019 single base substitution C T intron_variant MELA-AU X 86847103 86847103 single base substitution G A intron_variant MELA-AU X 86847358 86847358 single base substitution C T intron_variant MELA-AU X 86847411 86847411 single base substitution C T intron_variant MELA-AU X 86847413 86847413 single base substitution A T intron_variant MELA-AU X 86847598 86847598 single base substitution C T intron_variant MELA-AU X 86847662 86847662 single base substitution G A intron_variant MELA-AU X 86847713 86847713 single base substitution T G intron_variant MELA-AU X 86847758 86847758 single base substitution C T intron_variant MELA-AU X 86847777 86847777 single base substitution C T intron_variant MELA-AU X 86847913 86847913 single base substitution T A intron_variant MELA-AU X 86848127 86848127 single base substitution C A intron_variant MELA-AU X 86848127 86848127 single base substitution C T intron_variant MELA-AU X 86848196 86848196 single base substitution A T intron_variant MELA-AU X 86848273 86848273 single base substitution C T intron_variant MELA-AU X 86848301 86848301 single base substitution C T intron_variant MELA-AU X 86848550 86848550 single base substitution T A intron_variant MELA-AU X 86848702 86848702 single base substitution C T intron_variant MELA-AU X 86848872 86848872 single base substitution G A intron_variant MELA-AU X 86848881 86848881 single base substitution G A intron_variant MELA-AU X 86849140 86849140 single base substitution C T intron_variant MELA-AU X 86849220 86849220 single base substitution C T intron_variant MELA-AU X 86849381 86849381 single base substitution C T intron_variant MELA-AU X 86849382 86849382 single base substitution C T intron_variant MELA-AU X 86849388 86849388 single base substitution G A intron_variant MELA-AU X 86849396 86849396 single base substitution G A intron_variant MELA-AU X 86849530 86849530 single base substitution C T intron_variant MELA-AU X 86849541 86849541 single base substitution C T intron_variant MELA-AU X 86849548 86849548 single base substitution C T intron_variant MELA-AU X 86849703 86849703 single base substitution C T intron_variant MELA-AU X 86849751 86849751 single base substitution A G intron_variant MELA-AU X 86849766 86849766 single base substitution T A intron_variant MELA-AU X 86849780 86849780 single base substitution G A intron_variant MELA-AU X 86849789 86849789 single base substitution C T intron_variant MELA-AU X 86849885 86849885 single base substitution G A intron_variant MELA-AU X 86849926 86849926 single base substitution G A intron_variant MELA-AU X 86850004 86850004 single base substitution C T intron_variant MELA-AU X 86850172 86850172 single base substitution C T intron_variant MELA-AU X 86850211 86850211 single base substitution C T intron_variant MELA-AU X 86850235 86850235 single base substitution C T intron_variant MELA-AU X 86850401 86850401 single base substitution G A intron_variant MELA-AU X 86850454 86850454 single base substitution G A intron_variant MELA-AU X 86850536 86850536 single base substitution G A intron_variant MELA-AU X 86850556 86850556 single base substitution C T intron_variant MELA-AU X 86850680 86850680 single base substitution C T intron_variant MELA-AU X 86850768 86850768 single base substitution C T intron_variant MELA-AU X 86850818 86850818 single base substitution A G intron_variant MELA-AU X 86850865 86850865 single base substitution T G intron_variant MELA-AU X 86850926 86850926 single base substitution T C intron_variant MELA-AU X 86850945 86850945 single base substitution G A intron_variant MELA-AU X 86851147 86851147 single base substitution G A intron_variant MELA-AU X 86851152 86851152 single base substitution C T intron_variant MELA-AU X 86851303 86851303 single base substitution C T intron_variant MELA-AU X 86851315 86851315 single base substitution C T intron_variant MELA-AU X 86851397 86851397 single base substitution G A intron_variant MELA-AU X 86851462 86851462 single base substitution C T intron_variant MELA-AU X 86851532 86851532 single base substitution C T intron_variant MELA-AU X 86851556 86851556 single base substitution A G intron_variant MELA-AU X 86851562 86851562 single base substitution C T intron_variant MELA-AU X 86851740 86851740 single base substitution C T intron_variant MELA-AU X 86851772 86851772 single base substitution G A intron_variant MELA-AU X 86851843 86851843 single base substitution G A intron_variant MELA-AU X 86851879 86851879 single base substitution C T intron_variant MELA-AU X 86851899 86851899 single base substitution G A intron_variant MELA-AU X 86852384 86852384 single base substitution T G intron_variant MELA-AU X 86852635 86852635 single base substitution G A intron_variant MELA-AU X 86852817 86852817 single base substitution A C intron_variant MELA-AU X 86853032 86853032 single base substitution G A intron_variant MELA-AU X 86853047 86853047 single base substitution G A intron_variant MELA-AU X 86853079 86853079 single base substitution G A intron_variant MELA-AU X 86853191 86853191 single base substitution C T intron_variant MELA-AU X 86853337 86853337 single base substitution C T intron_variant MELA-AU X 86853374 86853374 single base substitution C T intron_variant MELA-AU X 86853394 86853394 single base substitution G A intron_variant MELA-AU X 86853576 86853576 single base substitution G A intron_variant MELA-AU X 86853586 86853586 single base substitution C T intron_variant MELA-AU X 86853615 86853615 single base substitution G A intron_variant MELA-AU X 86853617 86853617 single base substitution A T intron_variant MELA-AU X 86853761 86853761 single base substitution C T intron_variant MELA-AU X 86853837 86853837 single base substitution C T intron_variant MELA-AU X 86853952 86853952 single base substitution T A intron_variant MELA-AU X 86853992 86853992 single base substitution A G intron_variant MELA-AU X 86854133 86854133 single base substitution C T intron_variant MELA-AU X 86854178 86854178 single base substitution C T intron_variant MELA-AU X 86854527 86854527 single base substitution C T intron_variant MELA-AU X 86854559 86854559 single base substitution T C intron_variant MELA-AU X 86854623 86854623 single base substitution G A intron_variant MELA-AU X 86854650 86854650 single base substitution A G intron_variant MELA-AU X 86854729 86854729 single base substitution G A intron_variant MELA-AU X 86854763 86854763 single base substitution T A intron_variant MELA-AU X 86854796 86854796 single base substitution C T intron_variant MELA-AU X 86854814 86854814 deletion of <=200bp C - intron_variant MELA-AU X 86854957 86854957 single base substitution T A intron_variant MELA-AU X 86855094 86855094 single base substitution G A intron_variant MELA-AU X 86855279 86855279 single base substitution G A intron_variant MELA-AU X 86855306 86855306 single base substitution G A intron_variant MELA-AU X 86855405 86855405 single base substitution G A intron_variant MELA-AU X 86855473 86855473 single base substitution G A intron_variant MELA-AU X 86855598 86855598 single base substitution G A intron_variant MELA-AU X 86855729 86855729 single base substitution G A intron_variant MELA-AU X 86855828 86855828 single base substitution C T intron_variant MELA-AU X 86855841 86855841 single base substitution G A intron_variant MELA-AU X 86855958 86855958 single base substitution C T intron_variant MELA-AU X 86856114 86856114 single base substitution G A intron_variant MELA-AU X 86856326 86856326 single base substitution C T intron_variant MELA-AU X 86856448 86856448 single base substitution G A intron_variant MELA-AU X 86856459 86856459 single base substitution C T intron_variant MELA-AU X 86856472 86856472 single base substitution A T intron_variant MELA-AU X 86856600 86856600 single base substitution C T intron_variant MELA-AU X 86856669 86856669 single base substitution G A intron_variant MELA-AU X 86856763 86856763 single base substitution C T intron_variant MELA-AU X 86856816 86856816 single base substitution T C intron_variant MELA-AU X 86856960 86856960 single base substitution C T intron_variant MELA-AU X 86857290 86857290 single base substitution C T intron_variant MELA-AU X 86857667 86857667 single base substitution A T intron_variant MELA-AU X 86857817 86857817 single base substitution C T intron_variant MELA-AU X 86857863 86857863 single base substitution G A intron_variant MELA-AU X 86857988 86857988 single base substitution G A intron_variant MELA-AU X 86858327 86858327 single base substitution C T intron_variant MELA-AU X 86858347 86858347 single base substitution G A intron_variant MELA-AU X 86858394 86858394 single base substitution C T intron_variant MELA-AU X 86858500 86858500 single base substitution A G intron_variant MELA-AU X 86858501 86858501 single base substitution G A intron_variant MELA-AU X 86858654 86858654 single base substitution G A intron_variant MELA-AU X 86858903 86858903 single base substitution C T intron_variant MELA-AU X 86859144 86859144 single base substitution G A intron_variant MELA-AU X 86859197 86859197 single base substitution G A intron_variant MELA-AU X 86859220 86859220 single base substitution G A intron_variant MELA-AU X 86859257 86859257 single base substitution T C intron_variant MELA-AU X 86859271 86859271 single base substitution G A intron_variant MELA-AU X 86859274 86859274 single base substitution C T intron_variant MELA-AU X 86859693 86859693 single base substitution G A intron_variant MELA-AU X 86859694 86859694 single base substitution G A intron_variant MELA-AU X 86859728 86859728 single base substitution C T intron_variant MELA-AU X 86859745 86859745 single base substitution C T intron_variant MELA-AU X 86859766 86859766 single base substitution T A intron_variant MELA-AU X 86860045 86860045 single base substitution T C intron_variant MELA-AU X 86860104 86860104 single base substitution T G intron_variant MELA-AU X 86860121 86860121 single base substitution C T intron_variant MELA-AU X 86860205 86860205 single base substitution C T intron_variant MELA-AU X 86860234 86860234 single base substitution C T intron_variant MELA-AU X 86860269 86860269 single base substitution G A intron_variant MELA-AU X 86860402 86860402 single base substitution G A intron_variant MELA-AU X 86860820 86860820 single base substitution G A intron_variant MELA-AU X 86861067 86861067 single base substitution C T intron_variant MELA-AU X 86861072 86861072 single base substitution G A intron_variant MELA-AU X 86861080 86861080 single base substitution C T intron_variant MELA-AU X 86861155 86861155 single base substitution C T intron_variant MELA-AU X 86861174 86861174 single base substitution C T intron_variant MELA-AU X 86861214 86861214 single base substitution C T intron_variant MELA-AU X 86861260 86861260 single base substitution C T intron_variant MELA-AU X 86861336 86861336 single base substitution G A intron_variant MELA-AU X 86861389 86861389 single base substitution G A intron_variant MELA-AU X 86861470 86861470 single base substitution C T intron_variant MELA-AU X 86861492 86861492 single base substitution A T intron_variant MELA-AU X 86861551 86861551 deletion of <=200bp A - intron_variant MELA-AU X 86861736 86861736 single base substitution G A intron_variant MELA-AU X 86862088 86862089 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU X 86862133 86862133 single base substitution C T intron_variant MELA-AU X 86862409 86862410 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 86862498 86862498 single base substitution C T intron_variant MELA-AU X 86862702 86862702 single base substitution C T intron_variant MELA-AU X 86862807 86862807 single base substitution G A intron_variant MELA-AU X 86862957 86862957 single base substitution C T intron_variant MELA-AU X 86862967 86862967 single base substitution C T intron_variant MELA-AU X 86863094 86863094 single base substitution C T intron_variant MELA-AU X 86863222 86863222 single base substitution C T intron_variant MELA-AU X 86863311 86863311 single base substitution C T intron_variant MELA-AU X 86863396 86863396 single base substitution C T intron_variant MELA-AU X 86863464 86863464 single base substitution C T intron_variant MELA-AU X 86863485 86863485 single base substitution T G intron_variant MELA-AU X 86863493 86863493 single base substitution G A intron_variant MELA-AU X 86863494 86863494 single base substitution G A intron_variant MELA-AU X 86863510 86863510 single base substitution G A intron_variant MELA-AU X 86863676 86863676 single base substitution G A intron_variant MELA-AU X 86863718 86863718 single base substitution G A intron_variant MELA-AU X 86863744 86863744 single base substitution T C intron_variant MELA-AU X 86863895 86863895 single base substitution C T intron_variant MELA-AU X 86864060 86864060 single base substitution C T intron_variant MELA-AU X 86864261 86864261 single base substitution C T intron_variant MELA-AU X 86864262 86864262 single base substitution C T intron_variant MELA-AU X 86864309 86864309 single base substitution C T intron_variant MELA-AU X 86864321 86864322 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU X 86864328 86864328 single base substitution G A intron_variant MELA-AU X 86864459 86864459 single base substitution C T intron_variant MELA-AU X 86864617 86864617 single base substitution T G intron_variant MELA-AU X 86864840 86864840 single base substitution G A intron_variant MELA-AU X 86865006 86865006 single base substitution T G intron_variant MELA-AU X 86865041 86865041 single base substitution G A intron_variant MELA-AU X 86865258 86865258 single base substitution G A intron_variant MELA-AU X 86865338 86865338 single base substitution G A intron_variant MELA-AU X 86865517 86865517 single base substitution C T intron_variant MELA-AU X 86865551 86865551 single base substitution C T intron_variant MELA-AU X 86865604 86865604 single base substitution T G intron_variant MELA-AU X 86865664 86865664 single base substitution C T intron_variant MELA-AU X 86865668 86865668 single base substitution A C intron_variant MELA-AU X 86865826 86865826 single base substitution C T intron_variant MELA-AU X 86865874 86865874 single base substitution C T intron_variant MELA-AU X 86865888 86865888 single base substitution C T intron_variant MELA-AU X 86866031 86866031 single base substitution C T intron_variant MELA-AU X 86866177 86866177 single base substitution G A intron_variant MELA-AU X 86866283 86866283 single base substitution T A intron_variant MELA-AU X 86866850 86866850 single base substitution C A intron_variant MELA-AU X 86867204 86867204 single base substitution C T intron_variant MELA-AU X 86867479 86867480 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 86867536 86867536 single base substitution C T intron_variant MELA-AU X 86867555 86867555 single base substitution A G intron_variant MELA-AU X 86867732 86867732 single base substitution G T intron_variant MELA-AU X 86867784 86867784 single base substitution C T intron_variant MELA-AU X 86867995 86867995 single base substitution T A intron_variant MELA-AU X 86868092 86868092 single base substitution G A intron_variant MELA-AU X 86868100 86868100 single base substitution C T intron_variant MELA-AU X 86868154 86868154 single base substitution G A intron_variant MELA-AU X 86868219 86868219 single base substitution C T intron_variant MELA-AU X 86868225 86868225 single base substitution G A intron_variant MELA-AU X 86868361 86868361 single base substitution G A intron_variant MELA-AU X 86868722 86868722 single base substitution C T intron_variant MELA-AU X 86869192 86869192 single base substitution C T intron_variant MELA-AU X 86869324 86869324 single base substitution G A intron_variant MELA-AU X 86869405 86869405 single base substitution T C intron_variant MELA-AU X 86869413 86869413 single base substitution C T intron_variant MELA-AU X 86869426 86869426 single base substitution C T intron_variant MELA-AU X 86869433 86869433 single base substitution C T splice_region_variant MELA-AU X 86869518 86869518 single base substitution G A synonymous_variant R224R 672G>A MELA-AU X 86869749 86869749 single base substitution C T intron_variant MELA-AU X 86869786 86869786 single base substitution C T intron_variant MELA-AU X 86869925 86869925 single base substitution G A intron_variant MELA-AU X 86870020 86870020 single base substitution G A intron_variant MELA-AU X 86870073 86870073 single base substitution C T intron_variant MELA-AU X 86870125 86870125 single base substitution C T intron_variant MELA-AU X 86870222 86870222 single base substitution G A intron_variant MELA-AU X 86870232 86870232 single base substitution C T intron_variant MELA-AU X 86870331 86870331 single base substitution G C intron_variant MELA-AU X 86870376 86870376 single base substitution C T intron_variant MELA-AU X 86870609 86870609 single base substitution C T intron_variant MELA-AU X 86870816 86870816 single base substitution G A intron_variant MELA-AU X 86870860 86870860 single base substitution C T intron_variant MELA-AU X 86871027 86871027 single base substitution C T intron_variant MELA-AU X 86871187 86871187 single base substitution G A intron_variant MELA-AU X 86871285 86871285 single base substitution G A intron_variant MELA-AU X 86871397 86871397 single base substitution C T intron_variant MELA-AU X 86871436 86871436 single base substitution G A intron_variant MELA-AU X 86871523 86871523 single base substitution G A intron_variant MELA-AU X 86871772 86871772 single base substitution C T intron_variant MELA-AU X 86871885 86871885 single base substitution G A intron_variant MELA-AU X 86871930 86871930 single base substitution C T intron_variant MELA-AU X 86872078 86872078 single base substitution C T intron_variant MELA-AU X 86872315 86872315 single base substitution T C intron_variant MELA-AU X 86872459 86872459 single base substitution G A intron_variant MELA-AU X 86872486 86872486 single base substitution G A intron_variant MELA-AU X 86872555 86872555 single base substitution G A intron_variant MELA-AU X 86872667 86872667 single base substitution G A intron_variant MELA-AU X 86873297 86873297 single base substitution C T intron_variant MELA-AU X 86873322 86873322 single base substitution C T intron_variant MELA-AU X 86873334 86873334 single base substitution G A intron_variant MELA-AU X 86873501 86873501 single base substitution G A intron_variant MELA-AU X 86873502 86873502 single base substitution G A intron_variant MELA-AU X 86873565 86873565 single base substitution G A intron_variant MELA-AU X 86873700 86873700 single base substitution C T intron_variant MELA-AU X 86873985 86873985 single base substitution G T intron_variant MELA-AU X 86874105 86874105 single base substitution G A intron_variant MELA-AU X 86874163 86874163 single base substitution T G intron_variant MELA-AU X 86874285 86874286 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 86874317 86874317 single base substitution C T intron_variant MELA-AU X 86874326 86874326 single base substitution C T intron_variant MELA-AU X 86874415 86874415 single base substitution C T intron_variant MELA-AU X 86874586 86874586 single base substitution G A intron_variant MELA-AU X 86874727 86874727 single base substitution C T intron_variant MELA-AU X 86874956 86874956 single base substitution C T intron_variant MELA-AU X 86875119 86875119 single base substitution C T intron_variant MELA-AU X 86875256 86875256 single base substitution G A intron_variant MELA-AU X 86875514 86875514 single base substitution C T intron_variant MELA-AU X 86875545 86875545 single base substitution G A intron_variant MELA-AU X 86875866 86875866 single base substitution G A intron_variant MELA-AU X 86875985 86875985 single base substitution C T intron_variant MELA-AU X 86876256 86876256 single base substitution T A intron_variant MELA-AU X 86876287 86876287 single base substitution C T intron_variant MELA-AU X 86876344 86876344 single base substitution A T intron_variant MELA-AU X 86876456 86876456 single base substitution G T intron_variant MELA-AU X 86876499 86876499 single base substitution T G intron_variant MELA-AU X 86876699 86876699 single base substitution C T intron_variant MELA-AU X 86876723 86876723 single base substitution C T intron_variant MELA-AU X 86876796 86876796 single base substitution G T intron_variant MELA-AU X 86876871 86876871 single base substitution G A intron_variant MELA-AU X 86877034 86877034 single base substitution C T intron_variant MELA-AU X 86877135 86877135 single base substitution G A intron_variant MELA-AU X 86877171 86877171 single base substitution C T intron_variant MELA-AU X 86877325 86877325 single base substitution C T missense_variant H347Y 1039C>T MELA-AU X 86877347 86877347 single base substitution G A missense_variant G354E 1061G>A MELA-AU X 86877352 86877352 single base substitution G A missense_variant D356N 1066G>A MELA-AU X 86877662 86877662 single base substitution C T intron_variant MELA-AU X 86877701 86877701 single base substitution G A intron_variant MELA-AU X 86877770 86877770 single base substitution C T intron_variant MELA-AU X 86877789 86877789 single base substitution G A intron_variant MELA-AU X 86877812 86877812 single base substitution A C intron_variant MELA-AU X 86877834 86877834 single base substitution G A intron_variant MELA-AU X 86877934 86877934 single base substitution T G intron_variant MELA-AU X 86878158 86878158 single base substitution G A intron_variant MELA-AU X 86878384 86878384 single base substitution C T intron_variant MELA-AU X 86878505 86878505 single base substitution G A intron_variant MELA-AU X 86878550 86878550 single base substitution C T intron_variant MELA-AU X 86878596 86878596 single base substitution T A intron_variant MELA-AU X 86878599 86878599 single base substitution C T intron_variant MELA-AU X 86878616 86878616 single base substitution C T intron_variant MELA-AU X 86878679 86878679 single base substitution G A intron_variant MELA-AU X 86878743 86878743 deletion of <=200bp A - intron_variant MELA-AU X 86878794 86878794 single base substitution C T intron_variant MELA-AU X 86878879 86878879 single base substitution C T intron_variant MELA-AU X 86879000 86879000 single base substitution G A intron_variant MELA-AU X 86879028 86879028 single base substitution A C intron_variant MELA-AU X 86879037 86879037 single base substitution C T intron_variant MELA-AU X 86879084 86879084 single base substitution C T intron_variant MELA-AU X 86879178 86879178 single base substitution G A intron_variant MELA-AU X 86879211 86879211 single base substitution C T intron_variant MELA-AU X 86879263 86879263 single base substitution A G intron_variant MELA-AU X 86879270 86879270 single base substitution C T intron_variant MELA-AU X 86879315 86879315 single base substitution C T intron_variant MELA-AU X 86879381 86879381 single base substitution G A intron_variant MELA-AU X 86879504 86879504 single base substitution G A intron_variant MELA-AU X 86879555 86879555 single base substitution G A intron_variant MELA-AU X 86879562 86879562 single base substitution C T intron_variant MELA-AU X 86879620 86879620 single base substitution C T intron_variant MELA-AU X 86879632 86879632 single base substitution C T intron_variant MELA-AU X 86879661 86879661 single base substitution G A intron_variant MELA-AU X 86879809 86879809 single base substitution C T intron_variant MELA-AU X 86879883 86879883 single base substitution G A intron_variant MELA-AU X 86879908 86879908 single base substitution G A intron_variant MELA-AU X 86880056 86880056 single base substitution A G intron_variant MELA-AU X 86880222 86880222 single base substitution C T intron_variant MELA-AU X 86880267 86880267 single base substitution G A intron_variant MELA-AU X 86880408 86880408 single base substitution T G intron_variant MELA-AU X 86880500 86880500 single base substitution G A intron_variant MELA-AU X 86880649 86880649 single base substitution G A missense_variant D393N 1177G>A MELA-AU X 86880670 86880670 single base substitution C T synonymous_variant L400L 1198C>T MELA-AU X 86880758 86880758 single base substitution G A missense_variant G429E 1286G>A MELA-AU X 86880830 86880830 single base substitution A T intron_variant MELA-AU X 86880861 86880861 single base substitution G A intron_variant MELA-AU X 86880929 86880929 single base substitution G A intron_variant MELA-AU X 86881140 86881140 single base substitution T A intron_variant MELA-AU X 86881212 86881212 single base substitution G A intron_variant MELA-AU X 86881257 86881257 single base substitution G A intron_variant MELA-AU X 86881264 86881264 single base substitution G A intron_variant MELA-AU X 86881330 86881330 single base substitution G A intron_variant MELA-AU X 86881462 86881462 single base substitution G A intron_variant MELA-AU X 86881616 86881616 single base substitution C T intron_variant MELA-AU X 86881636 86881636 single base substitution G A intron_variant MELA-AU X 86881738 86881738 single base substitution C T intron_variant MELA-AU X 86881778 86881778 single base substitution C T intron_variant MELA-AU X 86882000 86882000 single base substitution G A intron_variant MELA-AU X 86882027 86882027 single base substitution G A intron_variant MELA-AU X 86882078 86882078 single base substitution C T intron_variant MELA-AU X 86882161 86882161 single base substitution G A intron_variant MELA-AU X 86882258 86882258 single base substitution G A intron_variant MELA-AU X 86882286 86882286 single base substitution G A intron_variant MELA-AU X 86882333 86882333 single base substitution G A intron_variant MELA-AU X 86882346 86882346 single base substitution G A intron_variant MELA-AU X 86882350 86882350 single base substitution G A intron_variant MELA-AU X 86882362 86882362 single base substitution A C intron_variant MELA-AU X 86882767 86882767 single base substitution C T intron_variant MELA-AU X 86882772 86882772 single base substitution C T intron_variant MELA-AU X 86882948 86882948 single base substitution C T intron_variant MELA-AU X 86882949 86882949 single base substitution C T intron_variant MELA-AU X 86883160 86883160 single base substitution C T intron_variant MELA-AU X 86883264 86883264 single base substitution G A intron_variant MELA-AU X 86883361 86883361 single base substitution G A intron_variant MELA-AU X 86883428 86883428 single base substitution A T intron_variant MELA-AU X 86883510 86883510 single base substitution C T intron_variant MELA-AU X 86883739 86883739 single base substitution T A intron_variant MELA-AU X 86883739 86883739 single base substitution T C intron_variant MELA-AU X 86883786 86883786 single base substitution C T intron_variant MELA-AU X 86884085 86884085 single base substitution A T intron_variant MELA-AU X 86884116 86884116 single base substitution G A intron_variant MELA-AU X 86884271 86884271 single base substitution G A intron_variant MELA-AU X 86884276 86884276 single base substitution G A intron_variant MELA-AU X 86884287 86884287 single base substitution A C intron_variant MELA-AU X 86884603 86884603 single base substitution C T intron_variant MELA-AU X 86884648 86884648 single base substitution C T intron_variant MELA-AU X 86884668 86884668 single base substitution C T intron_variant MELA-AU X 86884916 86884916 single base substitution G A intron_variant MELA-AU X 86885273 86885273 single base substitution C T intron_variant MELA-AU X 86885553 86885553 single base substitution C T intron_variant MELA-AU X 86885564 86885564 single base substitution A T intron_variant MELA-AU X 86885628 86885628 single base substitution G A intron_variant MELA-AU X 86885785 86885785 single base substitution T G intron_variant MELA-AU X 86885949 86885949 single base substitution G A intron_variant MELA-AU X 86885980 86885980 single base substitution G A intron_variant MELA-AU X 86886081 86886081 single base substitution G A intron_variant MELA-AU X 86886084 86886084 single base substitution C T intron_variant MELA-AU X 86886219 86886219 single base substitution G A intron_variant MELA-AU X 86886275 86886275 single base substitution G A intron_variant MELA-AU X 86886405 86886405 single base substitution C T intron_variant MELA-AU X 86886412 86886412 single base substitution G A intron_variant MELA-AU X 86886413 86886413 single base substitution G A intron_variant MELA-AU X 86886621 86886622 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 86886630 86886630 single base substitution G A intron_variant MELA-AU X 86886666 86886666 single base substitution G A intron_variant MELA-AU X 86887055 86887055 single base substitution C T intron_variant MELA-AU X 86887145 86887145 single base substitution G A intron_variant MELA-AU X 86887167 86887167 single base substitution C T intron_variant MELA-AU X 86887236 86887236 single base substitution C T missense_variant L451F 1351C>T MELA-AU X 86887238 86887238 single base substitution C T synonymous_variant L451L 1353C>T MELA-AU X 86887333 86887333 single base substitution G A missense_variant G483E 1448G>A MELA-AU X 86887407 86887407 single base substitution C T missense_variant P508S 1522C>T MELA-AU X 86887569 86887569 single base substitution G A intron_variant MELA-AU X 86887622 86887622 single base substitution C T intron_variant MELA-AU X 86887650 86887650 single base substitution C T intron_variant MELA-AU X 86887654 86887654 single base substitution C T intron_variant MELA-AU X 86887662 86887662 single base substitution G A intron_variant MELA-AU X 86887675 86887675 single base substitution C T intron_variant MELA-AU X 86887862 86887862 single base substitution C T intron_variant MELA-AU X 86887901 86887901 single base substitution G A intron_variant MELA-AU X 86887910 86887910 single base substitution C T intron_variant MELA-AU X 86887927 86887927 single base substitution T A intron_variant MELA-AU X 86888096 86888096 single base substitution T C intron_variant MELA-AU X 86888103 86888103 single base substitution C T intron_variant MELA-AU X 86888162 86888162 single base substitution T C intron_variant MELA-AU X 86888180 86888180 single base substitution G T intron_variant MELA-AU X 86888221 86888221 single base substitution G A intron_variant MELA-AU X 86888240 86888240 single base substitution C T intron_variant MELA-AU X 86888307 86888307 single base substitution G A intron_variant MELA-AU X 86888320 86888320 single base substitution C T intron_variant MELA-AU X 86888766 86888766 single base substitution G A missense_variant G523R 1567G>A MELA-AU X 86888838 86888838 single base substitution G A missense_variant G547R 1639G>A MELA-AU X 86888923 86888923 single base substitution G A intron_variant MELA-AU X 86889111 86889111 single base substitution C T intron_variant MELA-AU X 86889162 86889162 deletion of <=200bp T - intron_variant MELA-AU X 86889166 86889166 single base substitution G A intron_variant MELA-AU X 86889185 86889185 single base substitution C T intron_variant MELA-AU X 86889325 86889325 single base substitution C T intron_variant MELA-AU X 86889361 86889361 single base substitution C T intron_variant MELA-AU X 86889495 86889495 single base substitution C T intron_variant MELA-AU X 86889504 86889504 single base substitution G A intron_variant MELA-AU X 86889655 86889655 single base substitution A T intron_variant MELA-AU X 86889813 86889813 single base substitution C T intron_variant MELA-AU X 86889835 86889835 single base substitution G A intron_variant MELA-AU X 86890019 86890019 single base substitution G A intron_variant MELA-AU X 86890050 86890050 single base substitution G A intron_variant MELA-AU X 86890051 86890051 single base substitution G A intron_variant MELA-AU X 86890241 86890241 single base substitution C T intron_variant MELA-AU X 86890456 86890456 single base substitution T G intron_variant MELA-AU X 86890830 86890830 single base substitution G A intron_variant MELA-AU X 86890840 86890840 single base substitution G A intron_variant MELA-AU X 86890860 86890860 single base substitution G A intron_variant MELA-AU X 86890919 86890919 single base substitution G A intron_variant MELA-AU X 86890920 86890920 single base substitution G A intron_variant MELA-AU X 86890935 86890935 single base substitution C T intron_variant MELA-AU X 86890960 86890960 single base substitution A T intron_variant MELA-AU X 86891139 86891139 single base substitution C G intron_variant MELA-AU X 86891326 86891326 single base substitution A G intron_variant MELA-AU X 86891330 86891330 single base substitution T A intron_variant MELA-AU X 86891343 86891343 single base substitution G A intron_variant MELA-AU X 86891355 86891355 single base substitution G A intron_variant MELA-AU X 86891366 86891366 single base substitution G A intron_variant MELA-AU X 86891499 86891499 single base substitution G A intron_variant MELA-AU X 86891514 86891514 single base substitution G A intron_variant MELA-AU X 86891548 86891548 single base substitution C T intron_variant MELA-AU X 86891774 86891774 single base substitution C T intron_variant MELA-AU X 86891967 86891967 single base substitution A T intron_variant MELA-AU X 86892080 86892080 single base substitution C T intron_variant MELA-AU X 86892092 86892092 single base substitution T A intron_variant MELA-AU X 86892168 86892168 single base substitution G A intron_variant MELA-AU X 86892276 86892276 single base substitution G A intron_variant MELA-AU X 86892322 86892322 single base substitution G T intron_variant MELA-AU X 86892347 86892347 single base substitution C T intron_variant MELA-AU X 86892386 86892386 single base substitution G A intron_variant MELA-AU X 86892405 86892405 single base substitution G A intron_variant MELA-AU X 86892455 86892455 single base substitution C T intron_variant MELA-AU X 86892526 86892526 single base substitution T C intron_variant MELA-AU X 86892547 86892547 single base substitution G A intron_variant MELA-AU X 86892551 86892551 single base substitution G A intron_variant MELA-AU X 86892681 86892681 single base substitution G A intron_variant MELA-AU X 86892693 86892693 single base substitution A C intron_variant MELA-AU X 86892697 86892698 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 86892741 86892741 single base substitution G A intron_variant MELA-AU X 86892863 86892863 single base substitution C T intron_variant MELA-AU X 86892926 86892926 single base substitution G A intron_variant MELA-AU X 86892936 86892936 single base substitution G A intron_variant MELA-AU X 86893003 86893003 single base substitution T C intron_variant MELA-AU X 86893181 86893181 single base substitution C T intron_variant MELA-AU X 86893232 86893232 single base substitution C T intron_variant MELA-AU X 86893286 86893286 single base substitution G A intron_variant MELA-AU X 86893313 86893313 single base substitution C T intron_variant MELA-AU X 86893371 86893371 single base substitution C T intron_variant MELA-AU X 86893467 86893467 single base substitution G A intron_variant MELA-AU X 86893717 86893717 single base substitution C A intron_variant MELA-AU X 86893781 86893781 single base substitution G A intron_variant MELA-AU X 86893989 86893989 single base substitution G T intron_variant MELA-AU X 86894094 86894094 single base substitution G A intron_variant MELA-AU X 86894139 86894139 single base substitution G A intron_variant MELA-AU X 86894361 86894361 single base substitution G A intron_variant MELA-AU X 86894400 86894400 single base substitution C T intron_variant MELA-AU X 86894487 86894487 single base substitution G A intron_variant MELA-AU X 86894512 86894512 single base substitution C T intron_variant MELA-AU X 86894533 86894533 single base substitution A T intron_variant MELA-AU X 86894539 86894539 single base substitution G A intron_variant MELA-AU X 86894608 86894608 single base substitution G A intron_variant MELA-AU X 86894717 86894717 single base substitution G A intron_variant MELA-AU X 86894915 86894915 deletion of <=200bp A - intron_variant MELA-AU X 86894925 86894925 single base substitution A T intron_variant MELA-AU X 86894932 86894932 single base substitution G A intron_variant MELA-AU X 86895217 86895217 single base substitution A T intron_variant MELA-AU X 86895246 86895246 single base substitution G A intron_variant MELA-AU X 86895299 86895299 single base substitution C T intron_variant MELA-AU X 86895317 86895317 single base substitution G A intron_variant MELA-AU X 86895318 86895318 single base substitution G A intron_variant MELA-AU X 86895334 86895334 single base substitution C T intron_variant MELA-AU X 86895464 86895464 single base substitution C T intron_variant MELA-AU X 86895525 86895525 single base substitution G A intron_variant MELA-AU X 86895539 86895539 single base substitution C T intron_variant MELA-AU X 86895586 86895586 single base substitution A T intron_variant MELA-AU X 86895589 86895589 single base substitution C T intron_variant MELA-AU X 86895660 86895660 single base substitution C T intron_variant MELA-AU X 86895775 86895775 single base substitution G A intron_variant MELA-AU X 86895889 86895889 single base substitution G A intron_variant MELA-AU X 86896104 86896104 single base substitution G A intron_variant MELA-AU X 86896115 86896115 single base substitution C T intron_variant MELA-AU X 86896121 86896121 single base substitution G A intron_variant MELA-AU X 86896351 86896351 single base substitution G A intron_variant MELA-AU X 86896389 86896389 single base substitution G A intron_variant MELA-AU X 86896405 86896405 single base substitution C T intron_variant MELA-AU X 86896477 86896477 single base substitution C T intron_variant MELA-AU X 86896490 86896490 single base substitution G A intron_variant MELA-AU X 86896554 86896554 single base substitution G A intron_variant MELA-AU X 86896582 86896582 single base substitution C T intron_variant MELA-AU X 86896636 86896636 single base substitution C T intron_variant MELA-AU X 86896662 86896662 single base substitution C T intron_variant MELA-AU X 86896674 86896674 single base substitution G A intron_variant MELA-AU X 86896675 86896675 single base substitution G A intron_variant MELA-AU X 86896690 86896690 single base substitution C T intron_variant MELA-AU X 86896779 86896779 single base substitution T G intron_variant MELA-AU X 86897022 86897022 single base substitution C T intron_variant MELA-AU X 86897326 86897326 single base substitution C T intron_variant MELA-AU X 86897390 86897390 single base substitution A G intron_variant MELA-AU X 86897409 86897409 single base substitution A T intron_variant MELA-AU X 86897667 86897667 single base substitution G A intron_variant MELA-AU X 86897699 86897699 single base substitution G A intron_variant MELA-AU X 86897722 86897722 single base substitution G A intron_variant MELA-AU X 86897749 86897749 single base substitution T G intron_variant MELA-AU X 86897769 86897769 single base substitution C T intron_variant MELA-AU X 86897771 86897771 single base substitution G A intron_variant MELA-AU X 86898180 86898180 single base substitution C T intron_variant MELA-AU X 86898256 86898256 single base substitution C T intron_variant MELA-AU X 86898308 86898308 single base substitution G A intron_variant MELA-AU X 86898326 86898326 single base substitution G A intron_variant MELA-AU X 86898401 86898401 single base substitution G A intron_variant MELA-AU X 86898473 86898474 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU X 86898485 86898485 single base substitution G A intron_variant MELA-AU X 86898590 86898590 single base substitution G A intron_variant MELA-AU X 86898654 86898654 single base substitution A G intron_variant MELA-AU X 86898751 86898751 single base substitution C T intron_variant MELA-AU X 86898900 86898900 single base substitution T C intron_variant MELA-AU X 86898966 86898966 single base substitution A T intron_variant MELA-AU X 86899071 86899071 single base substitution G A intron_variant MELA-AU X 86899135 86899135 single base substitution C T intron_variant MELA-AU X 86899371 86899371 single base substitution G A intron_variant MELA-AU X 86899463 86899463 single base substitution G A intron_variant MELA-AU X 86899539 86899539 single base substitution G A intron_variant MELA-AU X 86899565 86899565 single base substitution C T intron_variant MELA-AU X 86899594 86899594 single base substitution C T intron_variant MELA-AU X 86899603 86899603 single base substitution G T intron_variant MELA-AU X 86899798 86899798 single base substitution G A intron_variant MELA-AU X 86899808 86899808 single base substitution C A intron_variant MELA-AU X 86899977 86899977 single base substitution G A intron_variant MELA-AU X 86900241 86900241 single base substitution G A intron_variant MELA-AU X 86900323 86900323 single base substitution G T intron_variant MELA-AU X 86900324 86900324 single base substitution G A intron_variant MELA-AU X 86900569 86900569 single base substitution G A intron_variant MELA-AU X 86900719 86900719 single base substitution C T intron_variant MELA-AU X 86900908 86900908 single base substitution G A intron_variant MELA-AU X 86900911 86900911 single base substitution G A intron_variant MELA-AU X 86900914 86900914 single base substitution G A intron_variant MELA-AU X 86900923 86900923 single base substitution G A intron_variant MELA-AU X 86901112 86901112 single base substitution T A intron_variant MELA-AU X 86901285 86901285 single base substitution G A intron_variant MELA-AU X 86901295 86901295 single base substitution G A intron_variant MELA-AU X 86901559 86901559 single base substitution G A intron_variant MELA-AU X 86901565 86901565 single base substitution G A intron_variant MELA-AU X 86901936 86901936 single base substitution T A intron_variant MELA-AU X 86902153 86902153 single base substitution G A intron_variant MELA-AU X 86902399 86902399 single base substitution G A intron_variant MELA-AU X 86902475 86902475 single base substitution G A intron_variant MELA-AU X 86902701 86902701 single base substitution G A intron_variant MELA-AU X 86902709 86902709 single base substitution G A intron_variant MELA-AU X 86902732 86902732 single base substitution G A intron_variant MELA-AU X 86903060 86903060 single base substitution C T intron_variant MELA-AU X 86903074 86903074 single base substitution C T intron_variant MELA-AU X 86903211 86903211 single base substitution T A intron_variant MELA-AU X 86903253 86903253 single base substitution A G intron_variant MELA-AU X 86903260 86903260 single base substitution G A intron_variant MELA-AU X 86903390 86903390 single base substitution G A intron_variant MELA-AU X 86903397 86903397 single base substitution C T intron_variant MELA-AU X 86903525 86903525 single base substitution T A intron_variant MELA-AU X 86903561 86903561 single base substitution G A intron_variant MELA-AU X 86903597 86903597 single base substitution C T intron_variant MELA-AU X 86904047 86904047 single base substitution G A intron_variant MELA-AU X 86904359 86904359 single base substitution C T intron_variant MELA-AU X 86904383 86904383 single base substitution C T intron_variant MELA-AU X 86904429 86904429 single base substitution C T intron_variant MELA-AU X 86904522 86904522 single base substitution T C intron_variant MELA-AU X 86904745 86904745 single base substitution C T intron_variant MELA-AU X 86904776 86904776 single base substitution C T intron_variant MELA-AU X 86904860 86904860 single base substitution C T intron_variant MELA-AU X 86905113 86905113 single base substitution T C intron_variant MELA-AU X 86905194 86905194 single base substitution C T intron_variant MELA-AU X 86905315 86905315 single base substitution C A intron_variant MELA-AU X 86905393 86905393 single base substitution C T intron_variant MELA-AU X 86905475 86905475 single base substitution C T intron_variant MELA-AU X 86906110 86906110 single base substitution C T intron_variant MELA-AU X 86906127 86906127 single base substitution G A intron_variant MELA-AU X 86906321 86906321 single base substitution C T intron_variant MELA-AU X 86906536 86906536 single base substitution G A intron_variant MELA-AU X 86906647 86906647 single base substitution C T intron_variant MELA-AU X 86906870 86906870 single base substitution G A intron_variant MELA-AU X 86906901 86906901 single base substitution C T intron_variant MELA-AU X 86906902 86906902 single base substitution C T intron_variant MELA-AU X 86906982 86906982 single base substitution C T intron_variant MELA-AU X 86907205 86907205 single base substitution C T intron_variant MELA-AU X 86907214 86907214 single base substitution C T intron_variant MELA-AU X 86907221 86907221 single base substitution G T intron_variant MELA-AU X 86907262 86907262 single base substitution C T intron_variant MELA-AU X 86907359 86907359 single base substitution G A intron_variant MELA-AU X 86907415 86907415 single base substitution C T intron_variant MELA-AU X 86907498 86907498 single base substitution C T intron_variant MELA-AU X 86907501 86907501 single base substitution T C intron_variant MELA-AU X 86907573 86907573 single base substitution G A intron_variant MELA-AU X 86907607 86907607 single base substitution C T intron_variant MELA-AU X 86907726 86907726 single base substitution C T intron_variant MELA-AU X 86907769 86907769 single base substitution G A intron_variant MELA-AU X 86907862 86907862 single base substitution C T intron_variant MELA-AU X 86907907 86907907 single base substitution T C intron_variant MELA-AU X 86908073 86908073 single base substitution G A intron_variant MELA-AU X 86908136 86908136 single base substitution C T intron_variant MELA-AU X 86908152 86908152 single base substitution C T intron_variant MELA-AU X 86908225 86908225 single base substitution G A intron_variant MELA-AU X 86908290 86908290 single base substitution G A intron_variant MELA-AU X 86908304 86908304 single base substitution C T intron_variant MELA-AU X 86908395 86908395 single base substitution C T intron_variant MELA-AU X 86908653 86908653 single base substitution C T intron_variant MELA-AU X 86908904 86908904 single base substitution T G intron_variant MELA-AU X 86908940 86908940 single base substitution G A intron_variant MELA-AU X 86908943 86908943 single base substitution C T intron_variant MELA-AU X 86908945 86908945 single base substitution C T intron_variant MELA-AU X 86909009 86909009 single base substitution G A intron_variant MELA-AU X 86909599 86909599 single base substitution C T intron_variant MELA-AU X 86909610 86909610 single base substitution A G intron_variant MELA-AU X 86909644 86909644 single base substitution C T intron_variant MELA-AU X 86909708 86909708 single base substitution G A intron_variant MELA-AU X 86909736 86909736 single base substitution G A intron_variant MELA-AU X 86909743 86909743 single base substitution C A intron_variant MELA-AU X 86909849 86909849 single base substitution A G intron_variant MELA-AU X 86910052 86910052 single base substitution C T intron_variant MELA-AU X 86910116 86910116 single base substitution C T intron_variant MELA-AU X 86910121 86910121 single base substitution C G intron_variant MELA-AU X 86910125 86910125 single base substitution C T intron_variant MELA-AU X 86910320 86910320 single base substitution C T intron_variant MELA-AU X 86910392 86910392 single base substitution G A intron_variant MELA-AU X 86910933 86910933 single base substitution C T intron_variant MELA-AU X 86911020 86911020 single base substitution C T intron_variant MELA-AU X 86911109 86911109 single base substitution G A intron_variant MELA-AU X 86911126 86911126 single base substitution C T intron_variant MELA-AU X 86911207 86911207 single base substitution C A intron_variant MELA-AU X 86911252 86911252 single base substitution C T intron_variant MELA-AU X 86911349 86911349 single base substitution C T intron_variant MELA-AU X 86911392 86911392 single base substitution T A intron_variant MELA-AU X 86911473 86911473 single base substitution C T intron_variant MELA-AU X 86911503 86911503 single base substitution C T intron_variant MELA-AU X 86911549 86911549 single base substitution T C intron_variant MELA-AU X 86911554 86911554 single base substitution A C intron_variant MELA-AU X 86911579 86911579 single base substitution C T intron_variant MELA-AU X 86911589 86911589 single base substitution C T intron_variant MELA-AU X 86911633 86911633 single base substitution C T intron_variant MELA-AU X 86911690 86911690 single base substitution C T intron_variant MELA-AU X 86911699 86911699 single base substitution C T intron_variant MELA-AU X 86911952 86911952 single base substitution G C intron_variant MELA-AU X 86911962 86911962 single base substitution G A intron_variant MELA-AU X 86912057 86912057 single base substitution C T intron_variant MELA-AU X 86912085 86912085 single base substitution C T intron_variant MELA-AU X 86912298 86912298 single base substitution C T intron_variant MELA-AU X 86912431 86912431 single base substitution C T intron_variant MELA-AU X 86912461 86912461 single base substitution C T intron_variant MELA-AU X 86912463 86912463 single base substitution T C intron_variant MELA-AU X 86912585 86912585 single base substitution C G intron_variant MELA-AU X 86912717 86912717 single base substitution G A intron_variant MELA-AU X 86912817 86912817 single base substitution T A intron_variant MELA-AU X 86912911 86912911 single base substitution C T intron_variant MELA-AU X 86912970 86912970 single base substitution G A intron_variant MELA-AU X 86913030 86913030 single base substitution C T intron_variant MELA-AU X 86913371 86913371 single base substitution C T intron_variant MELA-AU X 86913583 86913583 single base substitution C T intron_variant MELA-AU X 86914502 86914502 single base substitution C T intron_variant MELA-AU X 86914726 86914726 single base substitution G A intron_variant MELA-AU X 86914752 86914752 single base substitution C T intron_variant MELA-AU X 86914822 86914822 single base substitution G A intron_variant MELA-AU X 86914938 86914938 single base substitution G A intron_variant MELA-AU X 86915024 86915024 single base substitution C T intron_variant MELA-AU X 86915043 86915043 single base substitution C T intron_variant MELA-AU X 86915195 86915195 single base substitution G A intron_variant MELA-AU X 86915264 86915264 single base substitution C T intron_variant MELA-AU X 86915473 86915473 single base substitution G A intron_variant MELA-AU X 86915726 86915726 single base substitution C T intron_variant MELA-AU X 86915793 86915793 single base substitution G A intron_variant MELA-AU X 86915798 86915798 single base substitution C T intron_variant MELA-AU X 86915892 86915892 single base substitution G A intron_variant MELA-AU X 86916655 86916655 single base substitution C A intron_variant MELA-AU X 86916711 86916711 single base substitution A G intron_variant MELA-AU X 86916848 86916848 single base substitution A G intron_variant MELA-AU X 86917076 86917076 single base substitution C T intron_variant MELA-AU X 86917132 86917132 single base substitution C T intron_variant MELA-AU X 86917180 86917180 single base substitution A G intron_variant MELA-AU X 86917677 86917677 single base substitution C T intron_variant MELA-AU X 86918302 86918302 single base substitution G A intron_variant MELA-AU X 86918604 86918604 single base substitution C T intron_variant MELA-AU X 86918833 86918833 single base substitution G A intron_variant MELA-AU X 86918868 86918868 single base substitution G A intron_variant MELA-AU X 86919037 86919037 single base substitution C T intron_variant MELA-AU X 86919239 86919239 single base substitution G A intron_variant MELA-AU X 86919265 86919265 single base substitution C T intron_variant MELA-AU X 86919342 86919342 single base substitution T C intron_variant MELA-AU X 86919670 86919670 single base substitution G T intron_variant MELA-AU X 86919710 86919710 single base substitution C T intron_variant MELA-AU X 86919929 86919929 single base substitution G A stop_gained W697* 2091G>A MELA-AU X 86920052 86920052 single base substitution G A intron_variant MELA-AU X 86920102 86920102 single base substitution C T intron_variant MELA-AU X 86920226 86920226 single base substitution G A intron_variant MELA-AU X 86920617 86920617 single base substitution T A intron_variant MELA-AU X 86920646 86920646 single base substitution G A intron_variant MELA-AU X 86920675 86920675 single base substitution T A intron_variant MELA-AU X 86920821 86920821 single base substitution C T intron_variant MELA-AU X 86920957 86920957 single base substitution C T intron_variant MELA-AU X 86921105 86921105 single base substitution G A intron_variant MELA-AU X 86921166 86921166 single base substitution C T intron_variant MELA-AU X 86921240 86921241 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU X 86921386 86921386 single base substitution G A intron_variant MELA-AU X 86921475 86921475 single base substitution G A intron_variant MELA-AU X 86921475 86921475 single base substitution G A missense_variant E700K 2098G>A MELA-AU X 86921605 86921605 single base substitution G A 3_prime_UTR_variant MELA-AU X 86921605 86921605 single base substitution G A intron_variant MELA-AU X 86921623 86921623 single base substitution C T 3_prime_UTR_variant MELA-AU X 86921623 86921623 single base substitution C T intron_variant MELA-AU X 86921826 86921826 single base substitution G A 3_prime_UTR_variant MELA-AU X 86921826 86921826 single base substitution G A intron_variant MELA-AU X 86921885 86921885 single base substitution G A 3_prime_UTR_variant MELA-AU X 86921885 86921885 single base substitution G A intron_variant MELA-AU X 86921925 86921925 single base substitution A G 3_prime_UTR_variant MELA-AU X 86921925 86921925 single base substitution A G intron_variant MELA-AU X 86922066 86922066 single base substitution G A 3_prime_UTR_variant MELA-AU X 86922066 86922066 single base substitution G A intron_variant MELA-AU X 86922259 86922259 single base substitution C T 3_prime_UTR_variant MELA-AU X 86922259 86922259 single base substitution C T intron_variant MELA-AU X 86922276 86922276 single base substitution G A 3_prime_UTR_variant MELA-AU X 86922276 86922276 single base substitution G A intron_variant MELA-AU X 86922685 86922685 single base substitution T C 3_prime_UTR_variant MELA-AU X 86922685 86922685 single base substitution T C intron_variant MELA-AU X 86922923 86922923 single base substitution A T 3_prime_UTR_variant MELA-AU X 86922923 86922923 single base substitution A T intron_variant MELA-AU X 86922995 86922995 single base substitution C T 3_prime_UTR_variant MELA-AU X 86922995 86922995 single base substitution C T intron_variant MELA-AU X 86923561 86923561 single base substitution A C 3_prime_UTR_variant MELA-AU X 86923561 86923561 single base substitution A C intron_variant MELA-AU X 86923686 86923686 single base substitution G T 3_prime_UTR_variant MELA-AU X 86923686 86923686 single base substitution G T intron_variant MELA-AU X 86923702 86923702 single base substitution G A 3_prime_UTR_variant MELA-AU X 86923702 86923702 single base substitution G A intron_variant MELA-AU X 86923740 86923740 single base substitution C T 3_prime_UTR_variant MELA-AU X 86923740 86923740 single base substitution C T intron_variant MELA-AU X 86924136 86924136 single base substitution G A 3_prime_UTR_variant MELA-AU X 86924136 86924136 single base substitution G A intron_variant MELA-AU X 86924282 86924282 single base substitution C T 3_prime_UTR_variant MELA-AU X 86924282 86924282 single base substitution C T intron_variant MELA-AU X 86924411 86924411 single base substitution C T 3_prime_UTR_variant MELA-AU X 86924475 86924475 single base substitution G A 3_prime_UTR_variant MELA-AU X 86924850 86924850 single base substitution C T 3_prime_UTR_variant MELA-AU X 86924850 86924850 single base substitution C T downstream_gene_variant MELA-AU X 86925139 86925139 single base substitution G A downstream_gene_variant MELA-AU X 86925177 86925177 single base substitution C T downstream_gene_variant MELA-AU X 86925296 86925296 single base substitution A T downstream_gene_variant MELA-AU X 86925319 86925319 single base substitution T C downstream_gene_variant MELA-AU X 86925409 86925409 single base substitution G A downstream_gene_variant MELA-AU X 86925418 86925418 single base substitution A T downstream_gene_variant MELA-AU X 86925495 86925495 single base substitution A T downstream_gene_variant MELA-AU X 86925525 86925525 single base substitution C T downstream_gene_variant MELA-AU X 86925943 86925943 single base substitution G A downstream_gene_variant MELA-AU X 86925972 86925972 single base substitution C T downstream_gene_variant MELA-AU X 86926083 86926083 single base substitution G A downstream_gene_variant MELA-AU X 86926133 86926133 single base substitution C T downstream_gene_variant MELA-AU X 86926513 86926513 single base substitution A C downstream_gene_variant MELA-AU X 86926519 86926519 single base substitution G A downstream_gene_variant MELA-AU X 86926560 86926560 single base substitution G A downstream_gene_variant MELA-AU X 86926588 86926588 single base substitution G A downstream_gene_variant MELA-AU X 86926641 86926641 single base substitution G A downstream_gene_variant MELA-AU X 86926716 86926716 single base substitution T G downstream_gene_variant MELA-AU X 86927029 86927029 single base substitution C T downstream_gene_variant MELA-AU X 86927062 86927062 single base substitution C T downstream_gene_variant MELA-AU X 86927244 86927244 single base substitution G A downstream_gene_variant MELA-AU X 86927399 86927399 single base substitution G A downstream_gene_variant MELA-AU X 86927599 86927599 single base substitution G A downstream_gene_variant MELA-AU X 86927609 86927609 single base substitution G A downstream_gene_variant MELA-AU X 86927622 86927622 single base substitution C T downstream_gene_variant MELA-AU X 86927642 86927642 single base substitution C T downstream_gene_variant MELA-AU X 86927799 86927799 single base substitution G A downstream_gene_variant MELA-AU X 86927830 86927830 single base substitution C T downstream_gene_variant MELA-AU X 86927831 86927831 single base substitution G A downstream_gene_variant MELA-AU X 86927984 86927984 single base substitution C T downstream_gene_variant MELA-AU X 86927996 86927996 single base substitution G A downstream_gene_variant MELA-AU X 86928381 86928381 single base substitution C T downstream_gene_variant MELA-AU X 86928425 86928425 single base substitution T G downstream_gene_variant MELA-AU X 86928460 86928460 single base substitution G A downstream_gene_variant MELA-AU X 86928523 86928523 single base substitution G A downstream_gene_variant MELA-AU X 86928528 86928528 single base substitution A T downstream_gene_variant MELA-AU X 86928656 86928656 single base substitution C T downstream_gene_variant MELA-AU X 86928809 86928809 single base substitution G A downstream_gene_variant MELA-AU X 86928832 86928832 single base substitution G T downstream_gene_variant MELA-AU X 86928858 86928858 single base substitution C T downstream_gene_variant MELA-AU X 86928925 86928925 single base substitution G A downstream_gene_variant MELA-AU X 86929323 86929323 single base substitution C T downstream_gene_variant MELA-AU X 86929440 86929440 single base substitution G A downstream_gene_variant MELA-AU X 86929467 86929467 single base substitution C T downstream_gene_variant MELA-AU X 86929616 86929616 single base substitution C A downstream_gene_variant MELA-AU X 86929620 86929620 single base substitution G A downstream_gene_variant MELA-AU X 86929860 86929860 single base substitution G A downstream_gene_variant MELA-AU X 86929932 86929932 single base substitution G A downstream_gene_variant MELA-AU X 86929933 86929933 single base substitution G A downstream_gene_variant ORCA-IN X 86777133 86777133 single base substitution G T intron_variant ORCA-IN X 86797734 86797734 single base substitution G A intron_variant ORCA-IN X 86798752 86798752 single base substitution C A intron_variant ORCA-IN X 86802608 86802608 single base substitution G A intron_variant ORCA-IN X 86814148 86814148 single base substitution C T intron_variant ORCA-IN X 86818824 86818824 single base substitution G C intron_variant ORCA-IN X 86833660 86833660 single base substitution C T intron_variant ORCA-IN X 86833704 86833704 single base substitution G A intron_variant ORCA-IN X 86847426 86847426 single base substitution C A intron_variant ORCA-IN X 86863722 86863722 single base substitution G C intron_variant ORCA-IN X 86866662 86866662 single base substitution C T intron_variant ORCA-IN X 86873577 86873577 single base substitution C T intron_variant ORCA-IN X 86877318 86877318 single base substitution C T synonymous_variant T344T 1032C>T ORCA-IN X 86888221 86888221 single base substitution G A intron_variant ORCA-IN X 86888817 86888817 single base substitution G T missense_variant V540L 1618G>T ORCA-IN X 86888829 86888829 single base substitution G C missense_variant D544H 1630G>C ORCA-IN X 86888927 86888927 single base substitution C A intron_variant ORCA-IN X 86890640 86890640 single base substitution G A stop_gained W597* 1790G>A ORCA-IN X 86891733 86891733 single base substitution G C intron_variant ORCA-IN X 86904698 86904698 single base substitution G A intron_variant ORCA-IN X 86925364 86925364 single base substitution G T downstream_gene_variant OV-AU X 86770711 86770711 single base substitution C T upstream_gene_variant OV-AU X 86771426 86771426 single base substitution T A upstream_gene_variant OV-AU X 86773583 86773583 single base substitution A G intron_variant OV-AU X 86777514 86777514 single base substitution T C intron_variant OV-AU X 86779133 86779133 single base substitution G A intron_variant OV-AU X 86780571 86780571 single base substitution T C intron_variant OV-AU X 86780759 86780759 single base substitution T C intron_variant OV-AU X 86781699 86781699 single base substitution G T intron_variant OV-AU X 86782593 86782593 single base substitution C T intron_variant OV-AU X 86783446 86783446 single base substitution G A intron_variant OV-AU X 86783986 86783986 single base substitution T A intron_variant OV-AU X 86797987 86797987 single base substitution A T intron_variant OV-AU X 86798104 86798104 single base substitution C A intron_variant OV-AU X 86798612 86798612 single base substitution C T intron_variant OV-AU X 86803028 86803028 single base substitution A G intron_variant OV-AU X 86803548 86803548 single base substitution C T intron_variant OV-AU X 86806710 86806710 single base substitution A C intron_variant OV-AU X 86807542 86807542 single base substitution T C intron_variant OV-AU X 86808914 86808914 single base substitution G C intron_variant OV-AU X 86808996 86808996 single base substitution G C intron_variant OV-AU X 86815483 86815483 single base substitution C A intron_variant OV-AU X 86819468 86819468 single base substitution A T intron_variant OV-AU X 86819909 86819909 single base substitution T A intron_variant OV-AU X 86821348 86821348 single base substitution T C intron_variant OV-AU X 86831693 86831693 single base substitution G A intron_variant OV-AU X 86832143 86832143 single base substitution C A intron_variant OV-AU X 86836435 86836435 single base substitution C A intron_variant OV-AU X 86839329 86839329 single base substitution C A intron_variant OV-AU X 86840992 86840992 single base substitution C T intron_variant OV-AU X 86841712 86841712 single base substitution C T intron_variant OV-AU X 86843701 86843701 single base substitution C A intron_variant OV-AU X 86843703 86843703 single base substitution A G intron_variant OV-AU X 86846395 86846395 single base substitution G T intron_variant OV-AU X 86851983 86851983 single base substitution T C intron_variant OV-AU X 86854656 86854656 single base substitution G A intron_variant OV-AU X 86854688 86854688 single base substitution C G intron_variant OV-AU X 86858674 86858674 single base substitution T C intron_variant OV-AU X 86859340 86859340 single base substitution T G intron_variant OV-AU X 86866156 86866156 single base substitution G C intron_variant OV-AU X 86866159 86866159 single base substitution T A intron_variant OV-AU X 86874126 86874126 single base substitution C G intron_variant OV-AU X 86874365 86874365 single base substitution T A intron_variant OV-AU X 86880461 86880461 single base substitution G T intron_variant OV-AU X 86882600 86882600 single base substitution G A intron_variant OV-AU X 86882849 86882849 single base substitution T A intron_variant OV-AU X 86884946 86884946 single base substitution T C intron_variant OV-AU X 86887084 86887084 single base substitution C G intron_variant OV-AU X 86888070 86888070 single base substitution G T intron_variant OV-AU X 86895644 86895644 single base substitution T G intron_variant OV-AU X 86898853 86898853 single base substitution C A intron_variant OV-AU X 86907712 86907712 single base substitution C T intron_variant OV-AU X 86910519 86910519 single base substitution T A intron_variant OV-AU X 86913366 86913366 single base substitution G C intron_variant OV-AU X 86919975 86919975 single base substitution T C intron_variant OV-AU X 86921921 86921921 single base substitution T A 3_prime_UTR_variant OV-AU X 86921921 86921921 single base substitution T A intron_variant OV-AU X 86924923 86924923 single base substitution T A 3_prime_UTR_variant OV-AU X 86924923 86924923 single base substitution T A downstream_gene_variant OV-AU X 86925628 86925628 single base substitution A T downstream_gene_variant OV-AU X 86926624 86926624 single base substitution G T downstream_gene_variant OV-AU X 86926681 86926681 single base substitution A T downstream_gene_variant OV-AU X 86926761 86926761 single base substitution C A downstream_gene_variant OV-US X 86873049 86873049 single base substitution C A missense_variant P281H 842C>A PACA-AU X 86772448 86772448 single base substitution G T upstream_gene_variant PACA-AU X 86773949 86773949 single base substitution A T intron_variant PACA-AU X 86774108 86774109 deletion of <=200bp CT - intron_variant PACA-AU X 86774378 86774378 single base substitution A C intron_variant PACA-AU X 86774944 86774944 single base substitution A T intron_variant PACA-AU X 86776885 86776885 single base substitution G A intron_variant PACA-AU X 86779016 86779016 deletion of <=200bp T - intron_variant PACA-AU X 86780351 86780351 single base substitution C A intron_variant PACA-AU X 86781398 86781398 single base substitution A C intron_variant PACA-AU X 86782564 86782564 single base substitution G A intron_variant PACA-AU X 86788258 86788258 single base substitution G A intron_variant PACA-AU X 86788745 86788745 single base substitution A T intron_variant PACA-AU X 86789218 86789218 single base substitution G A intron_variant PACA-AU X 86791621 86791621 single base substitution G C intron_variant PACA-AU X 86792695 86792695 single base substitution A C intron_variant PACA-AU X 86795470 86795470 single base substitution T G intron_variant PACA-AU X 86798311 86798311 single base substitution G T intron_variant PACA-AU X 86798924 86798924 single base substitution G A intron_variant PACA-AU X 86799445 86799445 single base substitution C A intron_variant PACA-AU X 86799784 86799784 single base substitution G T intron_variant PACA-AU X 86801798 86801798 single base substitution T A intron_variant PACA-AU X 86801800 86801800 single base substitution T A intron_variant PACA-AU X 86802094 86802094 single base substitution G A intron_variant PACA-AU X 86802945 86802945 single base substitution A T intron_variant PACA-AU X 86804529 86804529 single base substitution A G intron_variant PACA-AU X 86810472 86810472 single base substitution T A intron_variant PACA-AU X 86812876 86812876 single base substitution C A intron_variant PACA-AU X 86814565 86814565 single base substitution C G intron_variant PACA-AU X 86815717 86815720 deletion of <=200bp TGAC - intron_variant PACA-AU X 86817665 86817665 single base substitution T C intron_variant PACA-AU X 86818529 86818529 single base substitution A G intron_variant PACA-AU X 86820928 86820928 single base substitution C A intron_variant PACA-AU X 86822123 86822123 single base substitution G T intron_variant PACA-AU X 86826367 86826367 single base substitution T G intron_variant PACA-AU X 86826883 86826883 single base substitution G A intron_variant PACA-AU X 86829218 86829218 single base substitution T C intron_variant PACA-AU X 86831874 86831874 single base substitution A C intron_variant PACA-AU X 86834149 86834149 single base substitution A G intron_variant PACA-AU X 86834194 86834194 single base substitution G T intron_variant PACA-AU X 86839562 86839562 single base substitution G A intron_variant PACA-AU X 86839669 86839669 single base substitution G T intron_variant PACA-AU X 86840402 86840402 single base substitution A C intron_variant PACA-AU X 86842870 86842870 insertion of <=200bp - T intron_variant PACA-AU X 86842916 86842916 single base substitution C G intron_variant PACA-AU X 86845320 86845320 single base substitution C T intron_variant PACA-AU X 86846551 86846551 single base substitution C G intron_variant PACA-AU X 86850322 86850322 single base substitution G A intron_variant PACA-AU X 86850759 86850759 deletion of <=200bp A - intron_variant PACA-AU X 86852197 86852197 single base substitution T A intron_variant PACA-AU X 86852868 86852868 single base substitution T A intron_variant PACA-AU X 86854234 86854234 single base substitution T C intron_variant PACA-AU X 86855066 86855066 single base substitution C T intron_variant PACA-AU X 86855155 86855155 single base substitution G A intron_variant PACA-AU X 86855660 86855660 single base substitution C A intron_variant PACA-AU X 86857973 86857973 single base substitution C A intron_variant PACA-AU X 86858564 86858564 insertion of <=200bp - T intron_variant PACA-AU X 86860447 86860447 single base substitution C T intron_variant PACA-AU X 86861052 86861052 single base substitution G T intron_variant PACA-AU X 86865551 86865551 single base substitution C T intron_variant PACA-AU X 86868542 86868542 single base substitution G A intron_variant PACA-AU X 86869528 86869528 single base substitution G A missense_variant V228I 682G>A PACA-AU X 86873570 86873570 single base substitution C A intron_variant PACA-AU X 86874970 86874970 single base substitution G A intron_variant PACA-AU X 86875703 86875703 single base substitution G C intron_variant PACA-AU X 86879748 86879748 single base substitution C G intron_variant PACA-AU X 86879819 86879819 single base substitution T G intron_variant PACA-AU X 86884629 86884629 single base substitution T G intron_variant PACA-AU X 86886162 86886162 single base substitution C A intron_variant PACA-AU X 86886175 86886175 single base substitution T C intron_variant PACA-AU X 86886340 86886340 single base substitution T C intron_variant PACA-AU X 86886381 86886381 single base substitution C T intron_variant PACA-AU X 86888701 86888701 single base substitution G A intron_variant PACA-AU X 86890429 86890429 single base substitution G T intron_variant PACA-AU X 86890948 86890948 single base substitution C T intron_variant PACA-AU X 86891701 86891701 single base substitution C T intron_variant PACA-AU X 86893738 86893738 single base substitution C T intron_variant PACA-AU X 86894996 86894996 single base substitution A C intron_variant PACA-AU X 86895007 86895007 single base substitution G T intron_variant PACA-AU X 86896096 86896096 single base substitution C T intron_variant PACA-AU X 86896362 86896362 single base substitution G T intron_variant PACA-AU X 86896381 86896381 single base substitution G T intron_variant PACA-AU X 86897280 86897280 single base substitution G A intron_variant PACA-AU X 86898249 86898249 single base substitution C T intron_variant PACA-AU X 86898874 86898874 single base substitution C A intron_variant PACA-AU X 86899515 86899515 deletion of <=200bp A - intron_variant PACA-AU X 86899923 86899923 single base substitution T G intron_variant PACA-AU X 86900177 86900177 single base substitution C G intron_variant PACA-AU X 86906390 86906390 single base substitution T C intron_variant PACA-AU X 86907800 86907800 single base substitution T G intron_variant PACA-AU X 86908086 86908086 single base substitution G A intron_variant PACA-AU X 86909724 86909724 single base substitution G A intron_variant PACA-AU X 86913886 86913886 single base substitution G T intron_variant PACA-AU X 86915680 86915680 deletion of <=200bp A - intron_variant PACA-AU X 86920989 86920989 single base substitution A G intron_variant PACA-AU X 86921086 86921086 single base substitution G A intron_variant PACA-AU X 86922002 86922002 single base substitution G C 3_prime_UTR_variant PACA-AU X 86922002 86922002 single base substitution G C intron_variant PACA-AU X 86922411 86922411 single base substitution A C 3_prime_UTR_variant PACA-AU X 86922411 86922411 single base substitution A C intron_variant PACA-AU X 86926993 86926993 single base substitution C T downstream_gene_variant PACA-AU X 86928260 86928260 single base substitution T C downstream_gene_variant PACA-CA X 86767800 86767800 single base substitution C A upstream_gene_variant PACA-CA X 86768020 86768020 single base substitution G A upstream_gene_variant PACA-CA X 86768419 86768419 deletion of <=200bp A - upstream_gene_variant PACA-CA X 86769570 86769570 single base substitution T G upstream_gene_variant PACA-CA X 86770432 86770432 single base substitution T A upstream_gene_variant PACA-CA X 86772787 86772787 single base substitution C T 5_prime_UTR_variant PACA-CA X 86772787 86772787 single base substitution C T upstream_gene_variant PACA-CA X 86775317 86775317 single base substitution C T intron_variant PACA-CA X 86781825 86781825 single base substitution T A intron_variant PACA-CA X 86783559 86783559 single base substitution A G intron_variant PACA-CA X 86789976 86789976 single base substitution G A intron_variant PACA-CA X 86791421 86791421 single base substitution C A intron_variant PACA-CA X 86792995 86792995 single base substitution G A intron_variant PACA-CA X 86794297 86794297 insertion of <=200bp - T intron_variant PACA-CA X 86795729 86795729 single base substitution G A intron_variant PACA-CA X 86797494 86797494 single base substitution G A intron_variant PACA-CA X 86799437 86799437 single base substitution T C intron_variant PACA-CA X 86800188 86800188 single base substitution G A intron_variant PACA-CA X 86801784 86801784 single base substitution C T intron_variant PACA-CA X 86804828 86804828 single base substitution A G intron_variant PACA-CA X 86805267 86805267 single base substitution G A intron_variant PACA-CA X 86807057 86807057 single base substitution T C intron_variant PACA-CA X 86807278 86807278 single base substitution A T intron_variant PACA-CA X 86807558 86807558 single base substitution C G intron_variant PACA-CA X 86808424 86808424 single base substitution C T intron_variant PACA-CA X 86810346 86810346 single base substitution G T intron_variant PACA-CA X 86812085 86812085 single base substitution G A intron_variant PACA-CA X 86813147 86813147 single base substitution C A intron_variant PACA-CA X 86813870 86813870 single base substitution T C intron_variant PACA-CA X 86814832 86814832 single base substitution G A intron_variant PACA-CA X 86815088 86815088 single base substitution G T intron_variant PACA-CA X 86815796 86815796 single base substitution T C intron_variant PACA-CA X 86818272 86818272 single base substitution C T intron_variant PACA-CA X 86819600 86819600 single base substitution A G intron_variant PACA-CA X 86821029 86821029 single base substitution C T intron_variant PACA-CA X 86822074 86822074 deletion of <=200bp A - intron_variant PACA-CA X 86822665 86822665 single base substitution G C intron_variant PACA-CA X 86823554 86823554 single base substitution C A intron_variant PACA-CA X 86825873 86825873 single base substitution T A intron_variant PACA-CA X 86826281 86826281 single base substitution G A intron_variant PACA-CA X 86827798 86827798 insertion of <=200bp - AT intron_variant PACA-CA X 86828822 86828822 single base substitution T G intron_variant PACA-CA X 86830557 86830557 single base substitution G A intron_variant PACA-CA X 86831333 86831333 insertion of <=200bp - A intron_variant PACA-CA X 86833065 86833065 single base substitution G A intron_variant PACA-CA X 86833798 86833798 single base substitution A T intron_variant PACA-CA X 86836651 86836651 single base substitution T A intron_variant PACA-CA X 86836678 86836678 insertion of <=200bp - A intron_variant PACA-CA X 86838240 86838240 single base substitution T G intron_variant PACA-CA X 86839114 86839114 single base substitution G T intron_variant PACA-CA X 86841152 86841152 single base substitution A T intron_variant PACA-CA X 86842436 86842436 single base substitution G C intron_variant PACA-CA X 86843637 86843637 deletion of <=200bp A - intron_variant PACA-CA X 86844420 86844420 single base substitution T C intron_variant PACA-CA X 86844634 86844634 single base substitution G T intron_variant PACA-CA X 86844989 86844989 single base substitution C A intron_variant PACA-CA X 86844989 86844989 single base substitution C T intron_variant PACA-CA X 86846998 86846998 insertion of <=200bp - C intron_variant PACA-CA X 86851263 86851263 single base substitution A G intron_variant PACA-CA X 86853208 86853208 single base substitution T C intron_variant PACA-CA X 86853253 86853253 single base substitution T A intron_variant PACA-CA X 86854424 86854424 single base substitution T G intron_variant PACA-CA X 86855526 86855526 single base substitution C T intron_variant PACA-CA X 86855554 86855554 insertion of <=200bp - T intron_variant PACA-CA X 86857092 86857092 single base substitution C T intron_variant PACA-CA X 86858860 86858860 single base substitution C G intron_variant PACA-CA X 86861380 86861380 single base substitution C T intron_variant PACA-CA X 86861711 86861712 deletion of <=200bp AA - intron_variant PACA-CA X 86862784 86862784 single base substitution A G intron_variant PACA-CA X 86867781 86867781 single base substitution A C intron_variant PACA-CA X 86868723 86868723 single base substitution G T intron_variant PACA-CA X 86869246 86869246 single base substitution G A intron_variant PACA-CA X 86869340 86869340 single base substitution C G intron_variant PACA-CA X 86870673 86870673 single base substitution G A intron_variant PACA-CA X 86870774 86870774 insertion of <=200bp - A intron_variant PACA-CA X 86871890 86871890 single base substitution A G intron_variant PACA-CA X 86872268 86872268 single base substitution C T intron_variant PACA-CA X 86872311 86872311 single base substitution G T intron_variant PACA-CA X 86874035 86874035 single base substitution C A intron_variant PACA-CA X 86874388 86874388 single base substitution C G intron_variant PACA-CA X 86874434 86874434 single base substitution A T intron_variant PACA-CA X 86875801 86875801 single base substitution C A intron_variant PACA-CA X 86876683 86876685 deletion of <=200bp AGA - intron_variant PACA-CA X 86877241 86877241 single base substitution G T stop_gained E319* 955G>T PACA-CA X 86877289 86877289 single base substitution G A missense_variant D335N 1003G>A PACA-CA X 86878745 86878745 single base substitution C T intron_variant PACA-CA X 86879181 86879181 single base substitution A G intron_variant PACA-CA X 86879251 86879251 single base substitution A G intron_variant PACA-CA X 86880718 86880718 single base substitution A G missense_variant M416V 1246A>G PACA-CA X 86882866 86882866 insertion of <=200bp - T intron_variant PACA-CA X 86883048 86883048 single base substitution A C intron_variant PACA-CA X 86883199 86883199 single base substitution G A intron_variant PACA-CA X 86884262 86884262 single base substitution A C intron_variant PACA-CA X 86885378 86885378 single base substitution T A intron_variant PACA-CA X 86885556 86885556 single base substitution C A intron_variant PACA-CA X 86887278 86887278 single base substitution C T missense_variant R465C 1393C>T PACA-CA X 86889338 86889338 single base substitution T C intron_variant PACA-CA X 86889804 86889804 single base substitution A G intron_variant PACA-CA X 86890411 86890411 single base substitution C A intron_variant PACA-CA X 86893781 86893781 insertion of <=200bp - A intron_variant PACA-CA X 86897941 86897941 single base substitution A T intron_variant PACA-CA X 86898810 86898810 single base substitution A T intron_variant PACA-CA X 86898813 86898813 single base substitution T A intron_variant PACA-CA X 86901773 86901773 single base substitution C T intron_variant PACA-CA X 86902684 86902684 single base substitution T A intron_variant PACA-CA X 86902950 86902950 insertion of <=200bp - A intron_variant PACA-CA X 86904720 86904720 single base substitution T A intron_variant PACA-CA X 86905658 86905658 single base substitution T A intron_variant PACA-CA X 86906079 86906079 single base substitution T C intron_variant PACA-CA X 86910237 86910237 single base substitution T A intron_variant PACA-CA X 86911485 86911485 single base substitution C T intron_variant PACA-CA X 86913961 86913961 single base substitution G T intron_variant PACA-CA X 86914952 86914952 single base substitution G A intron_variant PACA-CA X 86915591 86915591 single base substitution C T intron_variant PACA-CA X 86915891 86915891 single base substitution C T intron_variant PACA-CA X 86916021 86916021 single base substitution G A intron_variant PACA-CA X 86916041 86916041 insertion of <=200bp - T intron_variant PACA-CA X 86916343 86916343 insertion of <=200bp - A intron_variant PACA-CA X 86918192 86918192 single base substitution C G intron_variant PACA-CA X 86926508 86926508 single base substitution C T downstream_gene_variant PACA-CA X 86926597 86926597 deletion of <=200bp A - downstream_gene_variant PACA-CA X 86928366 86928366 single base substitution C T downstream_gene_variant PACA-CA X 86928412 86928412 single base substitution C T downstream_gene_variant PACA-CA X 86929160 86929160 insertion of <=200bp - T downstream_gene_variant PACA-CA X 86929758 86929758 single base substitution G T downstream_gene_variant PAEN-AU X 86768860 86768860 single base substitution G A upstream_gene_variant PAEN-AU X 86820946 86820946 single base substitution C T intron_variant PAEN-AU X 86821829 86821829 single base substitution G C intron_variant PAEN-AU X 86834228 86834228 single base substitution T A intron_variant PAEN-AU X 86840211 86840211 single base substitution A G intron_variant PAEN-AU X 86840294 86840294 single base substitution C G intron_variant PAEN-AU X 86861550 86861550 single base substitution C A intron_variant PAEN-AU X 86866110 86866110 single base substitution T A intron_variant PAEN-AU X 86868465 86868465 single base substitution C T intron_variant PAEN-AU X 86894561 86894561 single base substitution C A intron_variant PAEN-IT X 86772107 86772107 single base substitution G C upstream_gene_variant PAEN-IT X 86812612 86812612 single base substitution T C intron_variant PAEN-IT X 86825221 86825221 single base substitution A G intron_variant PAEN-IT X 86836027 86836027 single base substitution C G intron_variant PAEN-IT X 86837634 86837634 single base substitution C A intron_variant PAEN-IT X 86840133 86840133 single base substitution A G intron_variant PAEN-IT X 86847581 86847581 single base substitution A G intron_variant PAEN-IT X 86875702 86875702 single base substitution C T intron_variant PAEN-IT X 86893997 86893997 single base substitution A C intron_variant PAEN-IT X 86908144 86908144 single base substitution C A intron_variant PAEN-IT X 86918550 86918550 single base substitution T C intron_variant PAEN-IT X 86919596 86919596 single base substitution G C intron_variant PBCA-DE X 86770243 86770244 deletion of <=200bp TA - upstream_gene_variant PBCA-DE X 86770924 86770925 deletion of <=200bp AC - upstream_gene_variant PBCA-DE X 86775871 86775871 single base substitution A C intron_variant PBCA-DE X 86777759 86777759 single base substitution C T intron_variant PBCA-DE X 86796248 86796248 deletion of <=200bp G - intron_variant PBCA-DE X 86798554 86798554 single base substitution G T intron_variant PBCA-DE X 86798568 86798568 single base substitution C T intron_variant PBCA-DE X 86803158 86803158 single base substitution G T intron_variant PBCA-DE X 86817895 86817895 single base substitution C A intron_variant PBCA-DE X 86820748 86820748 single base substitution T A intron_variant PBCA-DE X 86825011 86825011 insertion of <=200bp - T intron_variant PBCA-DE X 86826014 86826014 single base substitution C T intron_variant PBCA-DE X 86826955 86826955 single base substitution C A intron_variant PBCA-DE X 86838938 86838938 single base substitution G A intron_variant PBCA-DE X 86841270 86841270 single base substitution A G intron_variant PBCA-DE X 86843481 86843481 single base substitution A T intron_variant PBCA-DE X 86848520 86848520 single base substitution G A intron_variant PBCA-DE X 86850023 86850023 deletion of <=200bp T - intron_variant PBCA-DE X 86875020 86875020 single base substitution A G intron_variant PBCA-DE X 86877257 86877257 single base substitution C A missense_variant P324Q 971C>A PBCA-DE X 86894836 86894836 single base substitution A G intron_variant PBCA-DE X 86897644 86897644 insertion of <=200bp - A intron_variant PBCA-DE X 86901050 86901050 insertion of <=200bp - A intron_variant PBCA-DE X 86905110 86905110 deletion of <=200bp T - intron_variant PBCA-DE X 86906124 86906124 single base substitution C T intron_variant PBCA-DE X 86914960 86914961 deletion of <=200bp GT - intron_variant PBCA-DE X 86916260 86916260 single base substitution C T intron_variant PBCA-DE X 86919833 86919833 single base substitution G A synonymous_variant V665V 1995G>A PBCA-DE X 86921913 86921913 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE X 86921913 86921913 insertion of <=200bp - T intron_variant PBCA-DE X 86924631 86924631 single base substitution G A 3_prime_UTR_variant PBCA-DE X 86924631 86924631 single base substitution G A downstream_gene_variant PBCA-DE X 86925198 86925199 deletion of <=200bp AC - downstream_gene_variant PBCA-DE X 86926435 86926435 single base substitution G A downstream_gene_variant PRAD-CA X 86768191 86768191 single base substitution G A upstream_gene_variant PRAD-CA X 86782785 86782785 single base substitution G T intron_variant PRAD-CA X 86795529 86795529 single base substitution G A intron_variant PRAD-CA X 86799008 86799008 single base substitution C A intron_variant PRAD-CA X 86799095 86799095 single base substitution G T intron_variant PRAD-CA X 86799180 86799180 single base substitution T G intron_variant PRAD-CA X 86800460 86800460 single base substitution G A intron_variant PRAD-CA X 86804560 86804560 single base substitution A G intron_variant PRAD-CA X 86811443 86811443 single base substitution C A intron_variant PRAD-CA X 86815123 86815123 single base substitution G A intron_variant PRAD-CA X 86820511 86820511 single base substitution A T intron_variant PRAD-CA X 86822485 86822485 single base substitution G A intron_variant PRAD-CA X 86823292 86823292 single base substitution T A intron_variant PRAD-CA X 86831149 86831149 single base substitution A G intron_variant PRAD-CA X 86835777 86835777 single base substitution C T intron_variant PRAD-CA X 86840514 86840514 single base substitution G T intron_variant PRAD-CA X 86845519 86845519 single base substitution G A intron_variant PRAD-CA X 86852564 86852564 single base substitution T C intron_variant PRAD-CA X 86853534 86853534 single base substitution C G intron_variant PRAD-CA X 86856695 86856695 single base substitution G A intron_variant PRAD-CA X 86857643 86857643 single base substitution A G intron_variant PRAD-CA X 86857648 86857648 single base substitution C A intron_variant PRAD-CA X 86857648 86857648 single base substitution C T intron_variant PRAD-CA X 86862158 86862158 single base substitution T C intron_variant PRAD-CA X 86863035 86863035 single base substitution T C intron_variant PRAD-CA X 86864970 86864970 single base substitution C A intron_variant PRAD-CA X 86874435 86874435 single base substitution T C intron_variant PRAD-CA X 86886109 86886109 single base substitution C T intron_variant PRAD-CA X 86899428 86899428 single base substitution A G intron_variant PRAD-CA X 86912084 86912084 single base substitution C A intron_variant PRAD-CA X 86913823 86913823 single base substitution T C intron_variant PRAD-CA X 86914985 86914985 single base substitution C T intron_variant PRAD-CA X 86922277 86922277 single base substitution A T 3_prime_UTR_variant PRAD-CA X 86922277 86922277 single base substitution A T intron_variant PRAD-UK X 86772759 86772759 single base substitution G A 5_prime_UTR_variant PRAD-UK X 86772759 86772759 single base substitution G A upstream_gene_variant PRAD-UK X 86779039 86779039 single base substitution A C intron_variant PRAD-UK X 86784686 86784686 single base substitution T A intron_variant PRAD-UK X 86785049 86785049 single base substitution C T intron_variant PRAD-UK X 86787176 86787176 single base substitution C G intron_variant PRAD-UK X 86803795 86803795 single base substitution T G intron_variant PRAD-UK X 86805390 86805390 single base substitution A T intron_variant PRAD-UK X 86807722 86807722 single base substitution G C intron_variant PRAD-UK X 86812867 86812867 single base substitution G A intron_variant PRAD-UK X 86815831 86815831 single base substitution A T intron_variant PRAD-UK X 86830678 86830678 single base substitution C G intron_variant PRAD-UK X 86831712 86831712 single base substitution C T intron_variant PRAD-UK X 86832298 86832298 single base substitution G A intron_variant PRAD-UK X 86839371 86839371 single base substitution G T intron_variant PRAD-UK X 86843837 86843837 single base substitution A G intron_variant PRAD-UK X 86844355 86844355 single base substitution G T intron_variant PRAD-UK X 86848096 86848096 single base substitution A G intron_variant PRAD-UK X 86852419 86852419 single base substitution G A intron_variant PRAD-UK X 86863240 86863240 single base substitution C G intron_variant PRAD-UK X 86866466 86866466 single base substitution A T intron_variant PRAD-UK X 86873589 86873589 single base substitution C T intron_variant PRAD-UK X 86874117 86874117 single base substitution A T intron_variant PRAD-UK X 86885994 86885994 single base substitution C A intron_variant PRAD-UK X 86887902 86887902 single base substitution A C intron_variant PRAD-UK X 86896212 86896212 single base substitution G A intron_variant PRAD-UK X 86903143 86903143 single base substitution A G intron_variant PRAD-UK X 86903571 86903571 single base substitution A G intron_variant PRAD-US X 86887270 86887270 single base substitution T C missense_variant M462T 1385T>C PRAD-US X 86888856 86888856 single base substitution G A missense_variant V553I 1657G>A READ-US X 86772920 86772920 single base substitution G C missense_variant E8D 24G>C READ-US X 86877231 86877231 deletion of <=200bp A - frameshift_variant I315 READ-US X 86877304 86877304 single base substitution C T missense_variant P340S 1018C>T READ-US X 86887299 86887299 single base substitution G A missense_variant A472T 1414G>A READ-US X 86890585 86890585 single base substitution G T missense_variant D579Y 1735G>T RECA-EU X 86772747 86772747 single base substitution T C upstream_gene_variant RECA-EU X 86780160 86780160 single base substitution A G intron_variant RECA-EU X 86791780 86791780 single base substitution T G intron_variant RECA-EU X 86797788 86797788 single base substitution G T intron_variant RECA-EU X 86800600 86800600 single base substitution A T intron_variant RECA-EU X 86804950 86804950 single base substitution C A intron_variant RECA-EU X 86806590 86806590 single base substitution G A intron_variant RECA-EU X 86816138 86816138 single base substitution T G intron_variant RECA-EU X 86817198 86817198 single base substitution G C intron_variant RECA-EU X 86823927 86823927 single base substitution T G intron_variant RECA-EU X 86833904 86833904 single base substitution G A intron_variant RECA-EU X 86839100 86839100 single base substitution T G intron_variant RECA-EU X 86841229 86841229 single base substitution G C intron_variant RECA-EU X 86849778 86849778 single base substitution G T intron_variant RECA-EU X 86867413 86867413 single base substitution C G intron_variant RECA-EU X 86877692 86877692 single base substitution T A intron_variant RECA-EU X 86877785 86877785 single base substitution C A intron_variant RECA-EU X 86892112 86892112 single base substitution A T intron_variant RECA-EU X 86896681 86896681 single base substitution G T intron_variant RECA-EU X 86902022 86902022 single base substitution T C intron_variant RECA-EU X 86918884 86918884 single base substitution T A intron_variant RECA-EU X 86920742 86920742 single base substitution A G intron_variant RECA-EU X 86922583 86922583 single base substitution G C 3_prime_UTR_variant RECA-EU X 86922583 86922583 single base substitution G C intron_variant SKCA-BR X 86767870 86767870 single base substitution G A upstream_gene_variant SKCA-BR X 86767893 86767893 single base substitution G A upstream_gene_variant SKCA-BR X 86768428 86768428 single base substitution A G upstream_gene_variant SKCA-BR X 86769887 86769887 insertion of <=200bp - CATAT upstream_gene_variant SKCA-BR X 86771565 86771565 single base substitution G A upstream_gene_variant SKCA-BR X 86771804 86771804 single base substitution C T upstream_gene_variant SKCA-BR X 86773015 86773015 single base substitution G A missense_variant G40E 119G>A SKCA-BR X 86773743 86773743 single base substitution C T intron_variant SKCA-BR X 86774607 86774607 single base substitution C T intron_variant SKCA-BR X 86774707 86774707 single base substitution C T intron_variant SKCA-BR X 86775955 86775955 single base substitution C T intron_variant SKCA-BR X 86777237 86777237 single base substitution C T intron_variant SKCA-BR X 86777529 86777529 single base substitution G A intron_variant SKCA-BR X 86778011 86778011 single base substitution T G intron_variant SKCA-BR X 86778302 86778302 single base substitution G A intron_variant SKCA-BR X 86779000 86779000 single base substitution G A intron_variant SKCA-BR X 86779947 86779947 single base substitution G A intron_variant SKCA-BR X 86780770 86780770 single base substitution G A intron_variant SKCA-BR X 86781372 86781372 single base substitution G A intron_variant SKCA-BR X 86782015 86782015 single base substitution C T intron_variant SKCA-BR X 86782041 86782041 single base substitution G A intron_variant SKCA-BR X 86782487 86782487 single base substitution G A intron_variant SKCA-BR X 86782626 86782626 single base substitution T C intron_variant SKCA-BR X 86782777 86782777 single base substitution G A intron_variant SKCA-BR X 86783601 86783601 single base substitution C T intron_variant SKCA-BR X 86785820 86785820 single base substitution C T intron_variant SKCA-BR X 86786595 86786595 single base substitution C T intron_variant SKCA-BR X 86786995 86786995 single base substitution C T intron_variant SKCA-BR X 86787001 86787001 single base substitution G A intron_variant SKCA-BR X 86787614 86787614 single base substitution G A intron_variant SKCA-BR X 86788538 86788538 single base substitution C T intron_variant SKCA-BR X 86788849 86788849 single base substitution G A intron_variant SKCA-BR X 86789745 86789745 single base substitution G A intron_variant SKCA-BR X 86791027 86791027 single base substitution G A intron_variant SKCA-BR X 86791096 86791096 single base substitution G A intron_variant SKCA-BR X 86791118 86791118 single base substitution G A intron_variant SKCA-BR X 86791603 86791603 single base substitution G A intron_variant SKCA-BR X 86791755 86791755 single base substitution G A intron_variant SKCA-BR X 86791818 86791818 single base substitution C T intron_variant SKCA-BR X 86792811 86792811 single base substitution G A intron_variant SKCA-BR X 86793143 86793143 single base substitution C T intron_variant SKCA-BR X 86793148 86793148 single base substitution C T intron_variant SKCA-BR X 86793260 86793260 single base substitution G A intron_variant SKCA-BR X 86793509 86793509 single base substitution T A intron_variant SKCA-BR X 86795749 86795749 single base substitution C T intron_variant SKCA-BR X 86796178 86796178 single base substitution G A intron_variant SKCA-BR X 86796269 86796269 single base substitution C T intron_variant SKCA-BR X 86796481 86796481 single base substitution G A intron_variant SKCA-BR X 86796529 86796529 single base substitution C T intron_variant SKCA-BR X 86796780 86796780 single base substitution G A intron_variant SKCA-BR X 86799081 86799081 single base substitution G A intron_variant SKCA-BR X 86799180 86799180 single base substitution T G intron_variant SKCA-BR X 86800361 86800361 single base substitution G A intron_variant SKCA-BR X 86800615 86800615 single base substitution G A intron_variant SKCA-BR X 86800680 86800680 single base substitution G T intron_variant SKCA-BR X 86801048 86801048 single base substitution G A intron_variant SKCA-BR X 86801498 86801498 single base substitution G A intron_variant SKCA-BR X 86801825 86801825 single base substitution T G intron_variant SKCA-BR X 86804158 86804158 single base substitution G A intron_variant SKCA-BR X 86804278 86804278 single base substitution G A intron_variant SKCA-BR X 86804575 86804575 single base substitution T A intron_variant SKCA-BR X 86805249 86805249 single base substitution G A intron_variant SKCA-BR X 86806505 86806505 single base substitution G T intron_variant SKCA-BR X 86807568 86807568 single base substitution G A intron_variant SKCA-BR X 86807809 86807809 single base substitution G A intron_variant SKCA-BR X 86808499 86808499 single base substitution C T intron_variant SKCA-BR X 86808736 86808736 single base substitution C T intron_variant SKCA-BR X 86809329 86809329 single base substitution G A intron_variant SKCA-BR X 86809809 86809809 single base substitution T G intron_variant SKCA-BR X 86810720 86810720 single base substitution C T intron_variant SKCA-BR X 86810829 86810829 single base substitution G A intron_variant SKCA-BR X 86811180 86811180 single base substitution G A intron_variant SKCA-BR X 86811514 86811514 single base substitution C A intron_variant SKCA-BR X 86811681 86811691 deletion of <=200bp AAAAACAAAAC - intron_variant SKCA-BR X 86811739 86811739 single base substitution C T intron_variant SKCA-BR X 86812917 86812917 single base substitution C T intron_variant SKCA-BR X 86813775 86813775 single base substitution C T intron_variant SKCA-BR X 86813834 86813834 single base substitution G A intron_variant SKCA-BR X 86814103 86814103 single base substitution G A intron_variant SKCA-BR X 86814819 86814819 single base substitution T A intron_variant SKCA-BR X 86814842 86814842 single base substitution C T intron_variant SKCA-BR X 86816128 86816128 single base substitution G A intron_variant SKCA-BR X 86816268 86816268 single base substitution G A intron_variant SKCA-BR X 86816333 86816333 single base substitution G A intron_variant SKCA-BR X 86816340 86816340 single base substitution C A intron_variant SKCA-BR X 86816800 86816800 single base substitution G A intron_variant SKCA-BR X 86816843 86816843 single base substitution C T intron_variant SKCA-BR X 86817551 86817552 deletion of <=200bp TA - intron_variant SKCA-BR X 86817751 86817751 single base substitution G A intron_variant SKCA-BR X 86817955 86817955 single base substitution G A intron_variant SKCA-BR X 86817996 86817996 single base substitution C T intron_variant SKCA-BR X 86818609 86818609 insertion of <=200bp - CA intron_variant SKCA-BR X 86819709 86819709 single base substitution G T intron_variant SKCA-BR X 86821300 86821300 single base substitution C T intron_variant SKCA-BR X 86822408 86822408 single base substitution A T intron_variant SKCA-BR X 86822727 86822727 single base substitution A G intron_variant SKCA-BR X 86823856 86823856 single base substitution G A intron_variant SKCA-BR X 86824243 86824243 single base substitution G A intron_variant SKCA-BR X 86825342 86825342 insertion of <=200bp - TAGATTGCCTGTTATAAGTAGGGTAGCTCA intron_variant SKCA-BR X 86825852 86825852 single base substitution G T intron_variant SKCA-BR X 86826163 86826163 single base substitution G A intron_variant SKCA-BR X 86826211 86826211 single base substitution C T intron_variant SKCA-BR X 86826250 86826250 single base substitution C T intron_variant SKCA-BR X 86827312 86827312 single base substitution C T intron_variant SKCA-BR X 86827338 86827338 single base substitution G A intron_variant SKCA-BR X 86827758 86827758 single base substitution G A intron_variant SKCA-BR X 86828269 86828269 single base substitution C T intron_variant SKCA-BR X 86828510 86828510 single base substitution T C intron_variant SKCA-BR X 86829244 86829244 single base substitution G A intron_variant SKCA-BR X 86829547 86829547 single base substitution G A intron_variant SKCA-BR X 86830055 86830055 single base substitution C T intron_variant SKCA-BR X 86830581 86830581 single base substitution G A intron_variant SKCA-BR X 86832097 86832097 single base substitution G A intron_variant SKCA-BR X 86832297 86832297 single base substitution C T intron_variant SKCA-BR X 86833158 86833158 single base substitution G A intron_variant SKCA-BR X 86833212 86833212 single base substitution G A intron_variant SKCA-BR X 86833503 86833503 single base substitution G A intron_variant SKCA-BR X 86834196 86834196 single base substitution G A intron_variant SKCA-BR X 86835335 86835335 insertion of <=200bp - AAG intron_variant SKCA-BR X 86836668 86836668 single base substitution G A intron_variant SKCA-BR X 86838569 86838569 single base substitution A G intron_variant SKCA-BR X 86839053 86839053 single base substitution G A intron_variant SKCA-BR X 86839184 86839184 single base substitution G A intron_variant SKCA-BR X 86839364 86839364 single base substitution G A intron_variant SKCA-BR X 86839423 86839423 single base substitution T A intron_variant SKCA-BR X 86839733 86839733 single base substitution C A intron_variant SKCA-BR X 86841426 86841426 single base substitution G A intron_variant SKCA-BR X 86841624 86841624 single base substitution G A intron_variant SKCA-BR X 86841679 86841679 single base substitution G A intron_variant SKCA-BR X 86841712 86841712 single base substitution C T intron_variant SKCA-BR X 86842129 86842129 single base substitution T A intron_variant SKCA-BR X 86842190 86842190 single base substitution C T intron_variant SKCA-BR X 86842900 86842900 single base substitution G A intron_variant SKCA-BR X 86842907 86842907 single base substitution C T intron_variant SKCA-BR X 86843443 86843443 single base substitution A G intron_variant SKCA-BR X 86843816 86843816 single base substitution A C intron_variant SKCA-BR X 86845657 86845657 single base substitution G A intron_variant SKCA-BR X 86845671 86845671 single base substitution T G intron_variant SKCA-BR X 86845788 86845788 single base substitution A T intron_variant SKCA-BR X 86847047 86847047 single base substitution C A intron_variant SKCA-BR X 86848211 86848211 single base substitution T C intron_variant SKCA-BR X 86848906 86848906 single base substitution C T intron_variant SKCA-BR X 86849140 86849140 single base substitution C T intron_variant SKCA-BR X 86849807 86849807 single base substitution C T intron_variant SKCA-BR X 86850045 86850045 single base substitution T C intron_variant SKCA-BR X 86850393 86850393 single base substitution G A intron_variant SKCA-BR X 86851583 86851583 single base substitution C T intron_variant SKCA-BR X 86853675 86853675 single base substitution G A intron_variant SKCA-BR X 86853716 86853716 single base substitution T A intron_variant SKCA-BR X 86853884 86853884 single base substitution G A intron_variant SKCA-BR X 86854262 86854262 single base substitution C T intron_variant SKCA-BR X 86855736 86855736 single base substitution C G intron_variant SKCA-BR X 86856963 86856963 single base substitution G A intron_variant SKCA-BR X 86857509 86857509 single base substitution A T intron_variant SKCA-BR X 86858227 86858227 single base substitution A T intron_variant SKCA-BR X 86860263 86860263 single base substitution C T intron_variant SKCA-BR X 86860421 86860421 single base substitution C T intron_variant SKCA-BR X 86861209 86861209 single base substitution G A intron_variant SKCA-BR X 86861218 86861218 single base substitution G A intron_variant SKCA-BR X 86862595 86862595 single base substitution C T intron_variant SKCA-BR X 86862823 86862823 single base substitution C T intron_variant SKCA-BR X 86862844 86862844 single base substitution C T intron_variant SKCA-BR X 86863920 86863920 single base substitution C T intron_variant SKCA-BR X 86865256 86865256 single base substitution C T intron_variant SKCA-BR X 86865461 86865461 single base substitution G A intron_variant SKCA-BR X 86866158 86866158 single base substitution A C intron_variant SKCA-BR X 86866485 86866485 single base substitution C T intron_variant SKCA-BR X 86866990 86866990 single base substitution G A intron_variant SKCA-BR X 86868025 86868025 single base substitution G A intron_variant SKCA-BR X 86868047 86868047 single base substitution G A intron_variant SKCA-BR X 86868060 86868060 single base substitution C T intron_variant SKCA-BR X 86868469 86868469 single base substitution G A intron_variant SKCA-BR X 86869320 86869320 single base substitution T G intron_variant SKCA-BR X 86869433 86869433 single base substitution C T splice_region_variant SKCA-BR X 86869930 86869930 single base substitution G A intron_variant SKCA-BR X 86870020 86870020 single base substitution G A intron_variant SKCA-BR X 86870303 86870303 single base substitution A T intron_variant SKCA-BR X 86871985 86871985 single base substitution C T intron_variant SKCA-BR X 86872008 86872008 single base substitution G A intron_variant SKCA-BR X 86872187 86872187 single base substitution C T intron_variant SKCA-BR X 86872369 86872369 single base substitution G A intron_variant SKCA-BR X 86873452 86873452 single base substitution A G intron_variant SKCA-BR X 86874087 86874087 single base substitution G A intron_variant SKCA-BR X 86874506 86874506 single base substitution C T intron_variant SKCA-BR X 86875663 86875663 single base substitution C T intron_variant SKCA-BR X 86875979 86875979 single base substitution C T intron_variant SKCA-BR X 86876777 86876777 single base substitution G A intron_variant SKCA-BR X 86877385 86877385 single base substitution C T synonymous_variant L367L 1099C>T SKCA-BR X 86878141 86878141 single base substitution C T intron_variant SKCA-BR X 86878417 86878417 single base substitution C T intron_variant SKCA-BR X 86878829 86878829 single base substitution T A intron_variant SKCA-BR X 86878951 86878951 single base substitution G A intron_variant SKCA-BR X 86879285 86879285 single base substitution G A intron_variant SKCA-BR X 86881678 86881678 single base substitution C G intron_variant SKCA-BR X 86883339 86883339 insertion of <=200bp - TC intron_variant SKCA-BR X 86883340 86883340 single base substitution T C intron_variant SKCA-BR X 86884058 86884058 single base substitution G A intron_variant SKCA-BR X 86884305 86884305 single base substitution C T intron_variant SKCA-BR X 86886170 86886170 single base substitution C T intron_variant SKCA-BR X 86886406 86886406 single base substitution C T intron_variant SKCA-BR X 86886581 86886581 single base substitution G T intron_variant SKCA-BR X 86888056 86888056 single base substitution C T intron_variant SKCA-BR X 86888142 86888142 single base substitution G A intron_variant SKCA-BR X 86888240 86888240 single base substitution C T intron_variant SKCA-BR X 86889147 86889147 single base substitution C T intron_variant SKCA-BR X 86889376 86889376 single base substitution C T intron_variant SKCA-BR X 86889904 86889904 single base substitution G A intron_variant SKCA-BR X 86890661 86890661 single base substitution C T missense_variant S604F 1811C>T SKCA-BR X 86891477 86891477 single base substitution C T intron_variant SKCA-BR X 86891491 86891491 single base substitution A T intron_variant SKCA-BR X 86892076 86892076 single base substitution G A intron_variant SKCA-BR X 86892085 86892085 single base substitution A T intron_variant SKCA-BR X 86892947 86892947 single base substitution G A intron_variant SKCA-BR X 86893133 86893133 single base substitution C T intron_variant SKCA-BR X 86893418 86893418 single base substitution G A intron_variant SKCA-BR X 86894633 86894633 single base substitution G A intron_variant SKCA-BR X 86894856 86894856 single base substitution G A intron_variant SKCA-BR X 86895176 86895176 single base substitution G A intron_variant SKCA-BR X 86895770 86895770 single base substitution G A intron_variant SKCA-BR X 86897414 86897414 single base substitution C T intron_variant SKCA-BR X 86897415 86897415 single base substitution C T intron_variant SKCA-BR X 86898751 86898751 single base substitution C T intron_variant SKCA-BR X 86898958 86898958 single base substitution A T intron_variant SKCA-BR X 86900241 86900241 single base substitution G A intron_variant SKCA-BR X 86900324 86900324 single base substitution G A intron_variant SKCA-BR X 86901778 86901778 single base substitution G A intron_variant SKCA-BR X 86902564 86902564 single base substitution G A intron_variant SKCA-BR X 86902808 86902808 single base substitution G A intron_variant SKCA-BR X 86903373 86903373 single base substitution A C intron_variant SKCA-BR X 86904438 86904438 single base substitution G A intron_variant SKCA-BR X 86904456 86904456 single base substitution C T intron_variant SKCA-BR X 86905014 86905014 single base substitution G A intron_variant SKCA-BR X 86905392 86905392 single base substitution C T intron_variant SKCA-BR X 86907126 86907126 single base substitution C T intron_variant SKCA-BR X 86907138 86907138 single base substitution G A intron_variant SKCA-BR X 86907726 86907726 single base substitution C T intron_variant SKCA-BR X 86908531 86908531 single base substitution G A intron_variant SKCA-BR X 86908816 86908816 single base substitution C T intron_variant SKCA-BR X 86910231 86910231 single base substitution C T intron_variant SKCA-BR X 86910367 86910367 single base substitution C T intron_variant SKCA-BR X 86911126 86911126 single base substitution C T intron_variant SKCA-BR X 86911543 86911543 single base substitution C T intron_variant SKCA-BR X 86911609 86911609 single base substitution C T intron_variant SKCA-BR X 86911699 86911699 single base substitution C T intron_variant SKCA-BR X 86913248 86913248 single base substitution C T intron_variant SKCA-BR X 86913393 86913393 single base substitution G A intron_variant SKCA-BR X 86913621 86913621 single base substitution C T intron_variant SKCA-BR X 86914113 86914115 deletion of <=200bp CTT - intron_variant SKCA-BR X 86917578 86917578 single base substitution C G intron_variant SKCA-BR X 86922247 86922247 single base substitution C T 3_prime_UTR_variant SKCA-BR X 86922247 86922247 single base substitution C T intron_variant SKCA-BR X 86922592 86922592 single base substitution A T 3_prime_UTR_variant SKCA-BR X 86922592 86922592 single base substitution A T intron_variant SKCA-BR X 86923536 86923536 single base substitution C T 3_prime_UTR_variant SKCA-BR X 86923536 86923536 single base substitution C T intron_variant SKCA-BR X 86923852 86923852 single base substitution C T 3_prime_UTR_variant SKCA-BR X 86923852 86923852 single base substitution C T intron_variant SKCA-BR X 86923876 86923876 single base substitution C T 3_prime_UTR_variant SKCA-BR X 86923876 86923876 single base substitution C T intron_variant SKCA-BR X 86924924 86924924 single base substitution G A 3_prime_UTR_variant SKCA-BR X 86924924 86924924 single base substitution G A downstream_gene_variant SKCA-BR X 86924953 86924953 single base substitution C T 3_prime_UTR_variant SKCA-BR X 86924953 86924953 single base substitution C T downstream_gene_variant SKCA-BR X 86925172 86925172 single base substitution C T downstream_gene_variant SKCA-BR X 86926200 86926200 single base substitution A T downstream_gene_variant SKCA-BR X 86926538 86926538 single base substitution G A downstream_gene_variant SKCA-BR X 86926588 86926588 single base substitution G A downstream_gene_variant SKCA-BR X 86927599 86927599 single base substitution G A downstream_gene_variant SKCA-BR X 86927807 86927807 insertion of <=200bp - CT downstream_gene_variant SKCA-BR X 86927969 86927969 single base substitution C T downstream_gene_variant SKCA-BR X 86927979 86927979 single base substitution G A downstream_gene_variant SKCA-BR X 86928202 86928202 single base substitution G A downstream_gene_variant SKCA-BR X 86929467 86929467 single base substitution C T downstream_gene_variant SKCA-BR X 86929687 86929687 single base substitution C T downstream_gene_variant SKCM-US X 86772918 86772918 single base substitution G A missense_variant E8K 22G>A SKCM-US X 86772938 86772938 single base substitution C T synonymous_variant I14I 42C>T SKCM-US X 86772958 86772958 single base substitution G A stop_gained W21* 62G>A SKCM-US X 86772975 86772975 single base substitution C T stop_gained Q27* 79C>T SKCM-US X 86773011 86773011 single base substitution G A missense_variant E39K 115G>A SKCM-US X 86868974 86868974 single base substitution G A missense_variant E173K 517G>A SKCM-US X 86868978 86868978 single base substitution A G missense_variant N174S 521A>G SKCM-US X 86869004 86869004 single base substitution G A missense_variant D183N 547G>A SKCM-US X 86869444 86869444 single base substitution C T missense_variant L200F 598C>T SKCM-US X 86869513 86869513 single base substitution G A missense_variant V223I 667G>A SKCM-US X 86869525 86869525 single base substitution G A missense_variant G227R 679G>A SKCM-US X 86869550 86869550 single base substitution C T missense_variant S235F 704C>T SKCM-US X 86873069 86873069 single base substitution C T stop_gained R288* 862C>T SKCM-US X 86873070 86873070 single base substitution G A missense_variant R288Q 863G>A SKCM-US X 86877370 86877370 single base substitution G A missense_variant G362R 1084G>A SKCM-US X 86880625 86880625 single base substitution G T stop_gained E385* 1153G>T SKCM-US X 86880675 86880675 single base substitution G A missense_variant M401I 1203G>A SKCM-US X 86887243 86887243 single base substitution C T missense_variant T453I 1358C>T SKCM-US X 86887260 86887260 single base substitution A C missense_variant I459L 1375A>C SKCM-US X 86887330 86887330 single base substitution G A missense_variant G482E 1445G>A SKCM-US X 86887333 86887333 single base substitution G A missense_variant G483E 1448G>A SKCM-US X 86888766 86888766 single base substitution G A missense_variant G523R 1567G>A SKCM-US X 86888817 86888817 single base substitution G T missense_variant V540L 1618G>T SKCM-US X 86890589 86890589 single base substitution G A missense_variant G580E 1739G>A SKCM-US X 86890621 86890621 single base substitution G A missense_variant D591N 1771G>A SKCM-US X 86890673 86890673 single base substitution G A missense_variant G608E 1823G>A SKCM-US X 86890699 86890699 single base substitution G A missense_variant G617R 1849G>A SKCM-US X 86890731 86890731 single base substitution C T synonymous_variant A627A 1881C>T STAD-US X 86773290 86773290 single base substitution G A missense_variant D132N 394G>A STAD-US X 86868966 86868966 single base substitution G A missense_variant R170H 509G>A STAD-US X 86877278 86877278 single base substitution T G missense_variant L331R 992T>G STAD-US X 86877393 86877393 single base substitution T C synonymous_variant S369S 1107T>C STAD-US X 86877393 86877393 single base substitution T G synonymous_variant S369S 1107T>G STAD-US X 86877405 86877405 single base substitution G A synonymous_variant L373L 1119G>A STAD-US X 86880644 86880644 single base substitution C A missense_variant T391N 1172C>A STAD-US X 86880677 86880677 single base substitution A G missense_variant E402G 1205A>G STAD-US X 86887291 86887291 single base substitution T G missense_variant F469C 1406T>G STAD-US X 86887303 86887303 single base substitution T C missense_variant V473A 1418T>C STAD-US X 86887303 86887303 single base substitution T G missense_variant V473G 1418T>G STAD-US X 86887421 86887421 single base substitution T C synonymous_variant H512H 1536T>C STAD-US X 86888822 86888822 single base substitution A C missense_variant E541D 1623A>C STAD-US X 86888892 86888892 single base substitution G A missense_variant V565I 1693G>A STAD-US X 86890617 86890617 single base substitution C A stop_gained Y589* 1767C>A STAD-US X 86890732 86890732 single base substitution C A missense_variant P628T 1882C>A STAD-US X 86919768 86919768 single base substitution G T missense_variant D644Y 1930G>T STAD-US X 86919826 86919826 single base substitution T G missense_variant V663G 1988T>G THCA-US X 86919891 86919891 single base substitution A G missense_variant N685D 2053A>G UCEC-US X 86772973 86772973 single base substitution T G missense_variant F26C 77T>G UCEC-US X 86772978 86772978 single base substitution G T missense_variant G28C 82G>T UCEC-US X 86773235 86773235 single base substitution G T missense_variant K113N 339G>T UCEC-US X 86773265 86773265 single base substitution C T synonymous_variant R123R 369C>T UCEC-US X 86868965 86868965 single base substitution C T missense_variant R170C 508C>T UCEC-US X 86868989 86868989 single base substitution G T stop_gained E178* 532G>T UCEC-US X 86869013 86869013 single base substitution C T synonymous_variant L186L 556C>T UCEC-US X 86872944 86872944 single base substitution A G missense_variant Q246R 737A>G UCEC-US X 86873030 86873030 single base substitution C T missense_variant L275F 823C>T UCEC-US X 86873099 86873099 single base substitution G T stop_gained E298* 892G>T UCEC-US X 86877277 86877277 single base substitution C T missense_variant L331F 991C>T UCEC-US X 86877313 86877313 single base substitution G T stop_gained E343* 1027G>T UCEC-US X 86877347 86877347 single base substitution G A missense_variant G354E 1061G>A UCEC-US X 86880687 86880687 single base substitution G T missense_variant K405N 1215G>T UCEC-US X 86887341 86887341 single base substitution G A missense_variant G486S 1456G>A UCEC-US X 86887399 86887399 single base substitution T C missense_variant V505A 1514T>C UCEC-US X 86887422 86887422 single base substitution C T missense_variant R513W 1537C>T UCEC-US X 86888855 86888855 single base substitution C T synonymous_variant Y552Y 1656C>T UCEC-US X 86890615 86890615 single base substitution T C missense_variant Y589H 1765T>C UCEC-US X 86890627 86890627 single base substitution C T missense_variant H593Y 1777C>T UCEC-US X 86890711 86890711 single base substitution G A missense_variant V621I 1861G>A UCEC-US X 86919895 86919895 single base substitution C T missense_variant T686I 2057C>T UCEC-US X 86924367 86924367 single base substitution G T 3_prime_UTR_variant UCEC-US X 86924367 86924367 single base substitution G T missense_variant Q712H 2136G>T UCEC-US X 86924371 86924371 single base substitution C T 3_prime_UTR_variant UCEC-US X 86924371 86924371 single base substitution C T synonymous_variant L714L 2140C>T UCEC-US X 86924379 86924379 single base substitution G T 3_prime_UTR_variant UCEC-US X 86924379 86924379 single base substitution G T missense_variant E716D 2148G>T UCEC-US X 86924385 86924385 single base substitution G A 3_prime_UTR_variant UCEC-US X 86924385 86924385 single base substitution G A synonymous_variant L718L 2154G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0UV-01 COSM1126233 c.82G>T p.G28C Substitution - Missense 23:87517975-87517975 + 587318 COSM1212665 c.1761G>A p.M587I Substitution - Missense 23:87635611-87635611 + HCC2998 COSM1682755 c.979G>T p.E327* Substitution - Nonsense 23:87622265-87622265 + TCGA-24-1603-01 COSM71363 c.1576T>A p.Y526N Substitution - Missense 23:87633775-87633775 + YUKAT COSM5413201 c.640G>A p.D214N Substitution - Missense 23:87614483-87614483 + TCGA-B5-A0JY-01 COSM1126242 c.532G>T p.E178* Substitution - Nonsense 23:87613986-87613986 + UM-SCC-2 COSM4599618 c.1576T>C p.Y526H Substitution - Missense 23:87633775-87633775 + TCGA-AA-A010-01 COSM282285 c.1569A>G p.G523G Substitution - coding silent 23:87633768-87633768 + YUMOKI COSM5413205 c.1087G>A p.E363K Substitution - Missense 23:87622373-87622373 + PT51 COSM5938515 c.1177G>A p.D393N Substitution - Missense 23:87625649-87625649 + TCGA-EE-A29R-06 COSM3563962 c.1084G>A p.G362R Substitution - Missense 23:87622370-87622370 + TCGA-HU-A4G8-01 COSM4111449 c.1119G>A p.L373L Substitution - coding silent 23:87622405-87622405 + S00832 COSM5661041 c.61T>A p.W21R Substitution - Missense 23:87517954-87517954 + TCGA-EK-A3GK-01 COSM4852905 c.98G>A p.G33E Substitution - Missense 23:87517991-87517991 + PD13307a COSM5773416 c.979G>C p.E327Q Substitution - Missense 23:87622265-87622265 + YUGURT COSM5413207 c.1910C>T p.S637F Substitution - Missense 23:87635760-87635760 + S02342 COSM5701447 c.1866_1867insA p.G623fs*4 Insertion - Frameshift 23:87635716-87635717 + TCGA-B5-A11N-01 COSM257248 c.339G>T p.K113N Substitution - Missense 23:87518232-87518232 + 4T COSM3714277 c.1032C>T p.T344T Substitution - coding silent 23:87622318-87622318 + LIM2405 COSM4643421 c.1988T>C p.V663A Substitution - Missense 23:87664826-87664826 + LUAD-CHTN-MAD06-00678 COSM361078 c.1762G>T p.E588* Substitution - Nonsense 23:87635612-87635612 + PD4119a COSM162031 c.169C>T p.R57W Substitution - Missense 23:87518062-87518062 + HCC066T COSM5821072 c.1904G>T p.R635M Substitution - Missense 23:87635754-87635754 + tumor_4102009 COSM3357471 c.1005T>A p.D335E Substitution - Missense 23:87622291-87622291 + 3N61-VS-3T61 COSM4984403 c.528G>T p.L176F Substitution - Missense 23:87613982-87613982 + TCGA-BI-A0VS-01 COSM462168 c.493G>A p.A165T Substitution - Missense 23:87613947-87613947 + YUQUEST COSM3914302 c.79C>T p.Q27* Substitution - Nonsense 23:87517972-87517972 + T3118 COSM4696567 c.1142T>C p.L381P Substitution - Missense 23:87625614-87625614 + TCGA-CC-5259-01 COSM75170 c.842C>A p.P281H Substitution - Missense 23:87618046-87618046 + TCGA-12-0619-01 COSM2153660 c.1393C>A p.R465S Substitution - Missense 23:87632278-87632278 + TCGA-B5-A0JY-01 COSM1126258 c.1215G>T p.K405N Substitution - Missense 23:87625687-87625687 + CSCC-29-T COSM4472895 c.1811C>T p.S604F Substitution - Missense 23:87635661-87635661 + D01 COSM5543973 c.1906C>T p.L636F Substitution - Missense 23:87635756-87635756 + TCGA-B5-A11E-01 COSM1126268 c.1765T>C p.Y589H Substitution - Missense 23:87635615-87635615 + LUAD-B01169 COSM355807 c.680G>C p.G227A Substitution - Missense 23:87614523-87614523 + Au10 COSM162031 c.169C>T p.R57W Substitution - Missense 23:87518062-87518062 + TCGA-BH-A0DZ-01 COSM458162 c.611C>A p.S204Y Substitution - Missense 23:87614454-87614454 + NCI-H2171 COSM25542 c.1203G>C p.M401I Substitution - Missense 23:87625675-87625675 + TCGA-A5-A0GP-01 COSM1126276 c.2136G>T p.Q712H Substitution - Missense 23:87669367-87669367 + CSCC-32-T COSM4514346 c.971C>T p.P324L Substitution - Missense 23:87622257-87622257 + LUAD_E00522 COSM388791 c.1241C>G p.S414C Substitution - Missense 23:87625713-87625713 + TCGA-51-4080-01 COSM758213 c.714G>T p.Q238H Substitution - Missense 23:87614557-87614557 + PT35 COSM5914488 c.580C>T p.P194S Substitution - Missense 23:87614034-87614034 + 19 COSM5748315 c.901A>G p.N301D Substitution - Missense 23:87618105-87618105 + TCGA-ER-A198-06 COSM3143125 c.1739G>A p.G580E Substitution - Missense 23:87635589-87635589 + 2492725 COSM3563958 c.704C>T p.S235F Substitution - Missense 23:87614547-87614547 + TCGA-AR-A24U-01 COSM1491322 c.72T>A p.H24Q Substitution - Missense 23:87517965-87517965 + 12586 COSM5616383 c.214A>T p.N72Y Substitution - Missense 23:87518107-87518107 + TCGA-BR-4369-01 COSM4111459 c.1418T>G p.V473G Substitution - Missense 23:87632303-87632303 + T3498 COSM4696561 c.261C>T p.A87A Substitution - coding silent 23:87518154-87518154 + TCGA-AY-4070-01 COSM287621 c.255G>T p.Q85H Substitution - Missense 23:87518148-87518148 + TCGA-EE-A29H-06 COSM3563948 c.517G>A p.E173K Substitution - Missense 23:87613971-87613971 + TCGA-D3-A2JF-06 COSM3563956 c.679G>A p.G227R Substitution - Missense 23:87614522-87614522 + TCGA-EE-A29C-06 COSM3563950 c.521A>G p.N174S Substitution - Missense 23:87613975-87613975 + ZZUFHECRKL-G062T COSM5432848 c.1325-4T>A p.? Unknown 23:87632206-87632206 + CSCC-29-T COSM4529743 c.1639G>A p.G547R Substitution - Missense 23:87633838-87633838 + ESCC_14 COSM4457266 c.1039C>T p.H347Y Substitution - Missense 23:87622325-87622325 + TCGA-AP-A059-01 COSM1126274 c.2057C>T p.T686I Substitution - Missense 23:87664895-87664895 + TCGA-G4-6302-01 COSM3694743 c.1448G>T p.G483V Substitution - Missense 23:87632333-87632333 + TCGA-22-1016-01 COSM758215 c.591-1G>T p.? Unknown 23:87614433-87614433 + YUMER COSM1715252 c.1513G>T p.V505L Substitution - Missense 23:87632398-87632398 + SS6003312 COSM3414392 c.2124C>A p.F708L Substitution - Missense 23:87669355-87669355 + TCGA-EE-A3J5-06 COSM3563970 c.1567G>A p.G523R Substitution - Missense 23:87633766-87633766 + TCGA-F5-6814-01 COSM3425005 c.1735G>T p.D579Y Substitution - Missense 23:87635585-87635585 + TCGA-AP-A059-01 COSM1126244 c.556C>T p.L186L Substitution - coding silent 23:87614010-87614010 + PCSI_0345_Pa_P_526 COSM3845528 c.955G>T p.E319* Substitution - Nonsense 23:87622241-87622241 + TCGA-BR-4253-01 COSM4111441 c.509G>A p.R170H Substitution - Missense 23:87613963-87613963 + LUAD-E00934 COSM403468 c.1256C>A p.P419H Substitution - Missense 23:87625728-87625728 + TCGA-GN-A262-06 COSM3563952 c.547G>A p.D183N Substitution - Missense 23:87614001-87614001 + TCGA-B6-A0I6-01 COSM458166 c.1157C>A p.T386N Substitution - Missense 23:87625629-87625629 + TCGA-G4-6588-01 COSM1126260 c.1456G>A p.G486S Substitution - Missense 23:87632341-87632341 + LS411 COSM3143150 c.2127T>C p.Y709Y Substitution - coding silent 23:87669358-87669358 + LUAD-S01306 COSM385610 c.1570C>A p.P524T Substitution - Missense 23:87633769-87633769 + HCC157 COSM3708745 c.588T>C p.H196H Substitution - coding silent 23:87614042-87614042 + LUAD-LIP77 COSM367935 c.509G>T p.R170L Substitution - Missense 23:87613963-87613963 + Patient_5_Relapse COSM5415115 c.1484G>A p.C495Y Substitution - Missense 23:87632369-87632369 + 4 COSM1126260 c.1456G>A p.G486S Substitution - Missense 23:87632341-87632341 + 14T COSM3563972 c.1618G>T p.V540L Substitution - Missense 23:87633817-87633817 + TCGA-BS-A0UV-01 COSM1126260 c.1456G>A p.G486S Substitution - Missense 23:87632341-87632341 + Pat_26_A COSM5878395 c.1292T>C p.L431P Substitution - Missense 23:87625764-87625764 + TCGA-BS-A0TC-01 COSM1126278 c.2148G>T p.E716D Substitution - Missense 23:87669379-87669379 + C086 COSM3563966 c.1445G>A p.G482E Substitution - Missense 23:87632330-87632330 + YUPEET COSM140900 c.979G>A p.E327K Substitution - Missense 23:87622265-87622265 + SC_9084 COSM5555908 c.2030G>T p.G677V Substitution - Missense 23:87664868-87664868 + 7285 COSM5617589 c.1899C>T p.C633C Substitution - coding silent 23:87635749-87635749 + BD110T COSM5514380 c.945_946insA p.N317fs*10 Insertion - Frameshift 23:87622231-87622232 + TCGA-AP-A059-01 COSM1126262 c.1514T>C p.V505A Substitution - Missense 23:87632399-87632399 + TCGA-UC-A7PF-01 COSM1126248 c.823C>T p.L275F Substitution - Missense 23:87618027-87618027 + BK0047D COSM4187869 c.269A>C p.N90T Substitution - Missense 23:87518162-87518162 + 254 COSM3731530 c.1138-7T>G p.? Unknown 23:87625603-87625603 + YULAN COSM1715250 c.1019C>T p.P340L Substitution - Missense 23:87622305-87622305 + PCSI_0588_Pa_P_526 COSM5761676 c.1393C>T p.R465C Substitution - Missense 23:87632278-87632278 + ESO-007 COSM1255992 c.26T>G p.F9C Substitution - Missense 23:87517919-87517919 + TCGA-D8-A1XK-01 COSM3845530 c.1619T>C p.V540A Substitution - Missense 23:87633818-87633818 + TCGA-EE-A29D-06 COSM3563978 c.1881C>T p.A627A Substitution - coding silent 23:87635731-87635731 + 438 COSM75170 c.842C>A p.P281H Substitution - Missense 23:87618046-87618046 + BD235T COSM5501698 c.60G>T p.R20S Substitution - Missense 23:87517953-87517953 + TCGA-EE-A29L-06 COSM3563970 c.1567G>A p.G523R Substitution - Missense 23:87633766-87633766 + SJACT005_D COSM4968006 c.1791G>T p.W597C Substitution - Missense 23:87635641-87635641 + TCGA-BH-A0EI-01 COSM458168 c.1447G>A p.G483R Substitution - Missense 23:87632332-87632332 + TCGA-BR-8591-01 COSM4111465 c.1693G>A p.V565I Substitution - Missense 23:87633892-87633892 + PCSI_0171_Pa_P_526 COSM4964319 c.1003G>A p.D335N Substitution - Missense 23:87622289-87622289 + TCGA-BR-8361-01 COSM4111469 c.1882C>A p.P628T Substitution - Missense 23:87635732-87635732 + 41T COSM3714279 c.1790G>A p.W597* Substitution - Nonsense 23:87635640-87635640 + S00501 COSM308675 c.1866_1867insG p.H625fs*2 Insertion - Frameshift 23:87635716-87635717 + TCGA-F4-6805-01 COSM1469802 c.1987G>C p.V663L Substitution - Missense 23:87664825-87664825 + TCGA-AA-A00N-01 COSM275764 c.2039G>A p.G680E Substitution - Missense 23:87664877-87664877 + 1342576 COSM51321 c.326C>T p.S109L Substitution - Missense 23:87518219-87518219 + TCGA-K4-A3WU-01 COSM3800788 c.656A>G p.K219R Substitution - Missense 23:87614499-87614499 + ZZUFHECRKL-G033T COSM5437748 c.1449A>C p.G483G Substitution - coding silent 23:87632334-87632334 + YUOTHO COSM4472895 c.1811C>T p.S604F Substitution - Missense 23:87635661-87635661 + TCGA-IN-8663-01 COSM4111447 c.1107T>G p.S369S Substitution - coding silent 23:87622393-87622393 + PT52 COSM5941142 c.1493C>T p.P498L Substitution - Missense 23:87632378-87632378 + TCGA-D3-A5GU-06 COSM3563954 c.598C>T p.L200F Substitution - Missense 23:87614441-87614441 + LUAD-RT-S01852 COSM384997 c.292G>T p.V98L Substitution - Missense 23:87518185-87518185 + 202_T COSM3944436 c.126G>T p.E42D Substitution - Missense 23:87518019-87518019 + TCGA-BR-8297-01 COSM4111445 c.1107T>C p.S369S Substitution - coding silent 23:87622393-87622393 + S01023 COSM5666927 c.1483T>C p.C495R Substitution - Missense 23:87632368-87632368 + CSCC-31-T COSM4454523 c.514A>C p.M172L Substitution - Missense 23:87613968-87613968 + TCGA-EE-A2GU-06 COSM3563966 c.1445G>A p.G482E Substitution - Missense 23:87632330-87632330 + YULLON COSM1715256 c.1912G>A p.D638N Substitution - Missense 23:87635762-87635762 + TCGA-AP-A056-01 COSM1126240 c.508C>T p.R170C Substitution - Missense 23:87613962-87613962 + S02384 COSM5698710 c.1779C>T p.H593H Substitution - coding silent 23:87635629-87635629 + TCGA-D3-A2JP-06 COSM1469792 c.1203G>A p.M401I Substitution - Missense 23:87625675-87625675 + CSCC-27-T COSM4553750 c.59G>A p.R20K Substitution - Missense 23:87517952-87517952 + YURTHE COSM1715254 c.1640G>A p.G547E Substitution - Missense 23:87633839-87633839 + TCGA-22-4613-01 COSM758207 c.1606T>A p.Y536N Substitution - Missense 23:87633805-87633805 + TCGA-CD-5801-01 COSM4111439 c.394G>A p.D132N Substitution - Missense 23:87518287-87518287 + T3658 COSM4696563 c.844T>C p.S282P Substitution - Missense 23:87618048-87618048 + PT35 COSM5914490 c.2090G>A p.W697* Substitution - Nonsense 23:87664928-87664928 + DLBCL-PatientC COSM221173 c.370G>A p.A124T Substitution - Missense 23:87518263-87518263 + CSCC-57-T COSM4513309 c.933C>A p.F311L Substitution - Missense 23:87622219-87622219 + TCGA-85-6561-01 COSM758219 c.153G>T p.R51S Substitution - Missense 23:87518046-87518046 + TCGA-63-5128-01 COSM758203 c.1726G>T p.G576C Substitution - Missense 23:87635576-87635576 + PDA_071 COSM5001728 c.1184A>G p.E395G Substitution - Missense 23:87625656-87625656 + NCI-H835 COSM3143103 c.1300G>A p.V434I Substitution - Missense 23:87625772-87625772 + TCGA-D8-A27G-01 COSM3845526 c.305C>G p.A102G Substitution - Missense 23:87518198-87518198 + TCGA-EE-A3JB-06 COSM4898385 c.1375A>C p.I459L Substitution - Missense 23:87632260-87632260 + YUVEME COSM5413203 c.1060G>A p.G354R Substitution - Missense 23:87622346-87622346 + 2492724 COSM3563958 c.704C>T p.S235F Substitution - Missense 23:87614547-87614547 + TCGA-60-2698-01 COSM758209 c.1422T>G p.I474M Substitution - Missense 23:87632307-87632307 + SN12C COSM1682757 c.1585G>T p.G529C Substitution - Missense 23:87633784-87633784 + CHOL12 COSM1744905 c.690_691insA p.N231fs*23 Insertion - Frameshift 23:87614533-87614534 + TCGA-CH-5751-01 COSM1132251 c.1657G>A p.V553I Substitution - Missense 23:87633856-87633856 + PD24216a COSM5798115 c.925+10T>A p.? Unknown 23:87618139-87618139 + SJRHB045 COSM3737672 c.1324+9A>T p.? Unknown 23:87625805-87625805 + TCGA-12-0619 COSM2153660 c.1393C>A p.R465S Substitution - Missense 23:87632278-87632278 + TCGA-AA-3681-01 COSM268071 c.1473T>A p.N491K Substitution - Missense 23:87632358-87632358 + SNUH_G52_S1 COSM3682186 c.1062G>C p.G354G Substitution - coding silent 23:87622348-87622348 + 12 COSM5732714 c.1217A>G p.Y406C Substitution - Missense 23:87625689-87625689 + Au3 COSM5601709 c.1831G>A p.G611R Substitution - Missense 23:87635681-87635681 + TCGA-06-0122-01 COSM2149219 c.796C>T p.Q266* Substitution - Nonsense 23:87618000-87618000 + D7 COSM5007688 c.1921G>A p.E641K Substitution - Missense 23:87635771-87635771 + TCGA-EE-A2MR-06 COSM3563944 c.62G>A p.W21* Substitution - Nonsense 23:87517955-87517955 + S01873 COSM5672433 c.1208C>A p.A403D Substitution - Missense 23:87625680-87625680 + Br27P COSM40245 c.1670C>T p.S557L Substitution - Missense 23:87633869-87633869 + TCGA-A6-6141-01 COSM1469794 c.1222C>A p.L408I Substitution - Missense 23:87625694-87625694 + TCGA-63-5128-01 COSM758205 c.1628G>T p.W543L Substitution - Missense 23:87633827-87633827 + TCGA-A5-A0GW-01 COSM1126279 c.2154G>A p.L718L Substitution - coding silent 23:87669385-87669385 + PD6720a COSM5798328 c.919A>C p.T307P Substitution - Missense 23:87618123-87618123 + LUAD-S01357 COSM388044 c.648T>G p.L216L Substitution - coding silent 23:87614491-87614491 + TCGA-A6-6653-01 COSM1469804 c.2096A>C p.E699A Substitution - Missense 23:87664934-87664934 + 8058303 COSM3780575 c.682G>A p.V228I Substitution - Missense 23:87614525-87614525 + CLL024 COSM1293078 c.993T>G p.L331L Substitution - coding silent 23:87622279-87622279 + T3099 COSM4696571 c.1832G>C p.G611A Substitution - Missense 23:87635682-87635682 + TCGA-EK-A2RK-01 COSM4828918 c.57G>C p.W19C Substitution - Missense 23:87517950-87517950 + OSCC-GB_00140111 COSM3563972 c.1618G>T p.V540L Substitution - Missense 23:87633817-87633817 + CSCC-41-T COSM4468721 c.1559C>T p.T520I Substitution - Missense 23:87633758-87633758 + TCGA-EJ-8469-01 COSM3783626 c.1385T>C p.M462T Substitution - Missense 23:87632270-87632270 + HCC157T COSM3708745 c.588T>C p.H196H Substitution - coding silent 23:87614042-87614042 + CHC2141T COSM4790141 c.1597G>A p.G533R Substitution - Missense 23:87633796-87633796 + 16246 COSM5616385 c.1456G>T p.G486C Substitution - Missense 23:87632341-87632341 + TCGA-BR-4363-01 COSM4111455 c.1406T>G p.F469C Substitution - Missense 23:87632291-87632291 + MO_1013 COSM5546795 c.370_390del21 p.Q125_A131delQDLEMMA Deletion - In frame 23:87518263-87518283 + TCGA-39-5021-01 COSM758201 c.2081G>T p.R694I Substitution - Missense 23:87664919-87664919 + W039 COSM308065 c.646C>T p.L216F Substitution - Missense 23:87614489-87614489 + TCGA-EE-A29L-06 COSM3563946 c.115G>A p.E39K Substitution - Missense 23:87518008-87518008 + 46M COSM4520586 c.1066G>A p.D356N Substitution - Missense 23:87622352-87622352 + TCGA-FS-A4F5-06 COSM3563972 c.1618G>T p.V540L Substitution - Missense 23:87633817-87633817 + TCGA-ER-A19D-06 COSM1212667 c.863G>A p.R288Q Substitution - Missense 23:87618067-87618067 + ESO-184 COSM1255999 c.1608T>C p.Y536Y Substitution - coding silent 23:87633807-87633807 + TCGA-FU-A3HY-01 COSM4838679 c.1853T>A p.F618Y Substitution - Missense 23:87635703-87635703 + TCGA-AA-3695-01 COSM268417 c.801C>G p.V267V Substitution - coding silent 23:87618005-87618005 + TCGA-22-5471-01 COSM758217 c.202C>A p.P68T Substitution - Missense 23:87518095-87518095 + 587376 COSM758201 c.2081G>T p.R694I Substitution - Missense 23:87664919-87664919 + sysucc-783T COSM5485187 c.1210A>T p.M404L Substitution - Missense 23:87625682-87625682 + OSCC-GB_00040111 COSM3714277 c.1032C>T p.T344T Substitution - coding silent 23:87622318-87622318 + TCGA-AA-A010-01 COSM282284 c.1455C>T p.D485D Substitution - coding silent 23:87632340-87632340 + TCGA-D5-5537-01 COSM1469782 c.194G>T p.S65I Substitution - Missense 23:87518087-87518087 + TCGA-AP-A056-01 COSM1126250 c.892G>T p.E298* Substitution - Nonsense 23:87618096-87618096 + TCGA-EE-A2GO-06 COSM3563958 c.704C>T p.S235F Substitution - Missense 23:87614547-87614547 + TCGA-EE-A2GD-06 COSM3563964 c.1358C>T p.T453I Substitution - Missense 23:87632243-87632243 + TCGA-AB-2955-03 COSM1319407 c.396T>C p.D132D Substitution - coding silent 23:87518289-87518289 + T636 COSM4696565 c.1113C>A p.I371I Substitution - coding silent 23:87622399-87622399 + TCGA-EB-A3XC-01 COSM3563960 c.862C>T p.R288* Substitution - Nonsense 23:87618066-87618066 + sysucc-1163T COSM5459536 c.1746C>A p.S582S Substitution - coding silent 23:87635596-87635596 + LUAD-5V8LT COSM403200 c.1993G>T p.V665L Substitution - Missense 23:87664831-87664831 + Patient_5_Diagnosis COSM5415115 c.1484G>A p.C495Y Substitution - Missense 23:87632369-87632369 + T36 COSM4696569 c.1713-2_1713-1delAG p.? Unknown 23:87635561-87635562 + TCGA-G4-6302-01 COSM3143131 c.1777C>A p.H593N Substitution - Missense 23:87635627-87635627 + ZZUFHECRKL-G036T COSM5433679 c.1252A>T p.S418C Substitution - Missense 23:87625724-87625724 + T578 COSM758201 c.2081G>T p.R694I Substitution - Missense 23:87664919-87664919 + 22 COSM5635415 c.1819C>T p.R607C Substitution - Missense 23:87635669-87635669 + TCGA-MI-A75H-01 COSM4918350 c.1059G>T p.V353V Substitution - coding silent 23:87622345-87622345 + 39 COSM5733852 c.604G>A p.A202T Substitution - Missense 23:87614447-87614447 + D28 COSM5545203 c.838C>T p.H280Y Substitution - Missense 23:87618042-87618042 + TCGA-D7-6527-01 COSM4111473 c.1988T>G p.V663G Substitution - Missense 23:87664826-87664826 + TCGA-D7-8572-01 COSM4111451 c.1172C>A p.T391N Substitution - Missense 23:87625644-87625644 + 3402_T COSM3944442 c.1538G>T p.R513L Substitution - Missense 23:87632423-87632423 + Pat_08_A COSM5878393 c.1157C>T p.T386I Substitution - Missense 23:87625629-87625629 + RK072_C01 COSM1636630 c.524A>G p.Y175C Substitution - Missense 23:87613978-87613978 + ESCC_127 COSM5641591 c.205G>T p.V69F Substitution - Missense 23:87518098-87518098 + C008 COSM5522977 c.1832G>A p.G611E Substitution - Missense 23:87635682-87635682 + TCGA-BS-A0UF-01 COSM1126248 c.823C>T p.L275F Substitution - Missense 23:87618027-87618027 + OSCC-GB_01370111 COSM5955774 c.1630G>C p.D544H Substitution - Missense 23:87633829-87633829 + CSCC-19-T COSM4524657 c.1285G>A p.G429R Substitution - Missense 23:87625757-87625757 + CHC896T COSM4953586 c.1496T>C p.V499A Substitution - Missense 23:87632381-87632381 + TCGA-DA-A3F5-06 COSM3914304 c.1153G>T p.E385* Substitution - Nonsense 23:87625625-87625625 + TCGA-BS-A0UF-01 COSM1126238 c.369C>T p.R123R Substitution - coding silent 23:87518262-87518262 + 587376 COSM1212669 c.1106C>A p.S369Y Substitution - Missense 23:87622392-87622392 + SNU-C2B COSM3143143 c.2019C>T p.Y673Y Substitution - coding silent 23:87664857-87664857 + HCC155T COSM3143116 c.1538G>A p.R513Q Substitution - Missense 23:87632423-87632423 + OSCC-GB_00410111 COSM3714279 c.1790G>A p.W597* Substitution - Nonsense 23:87635640-87635640 + 36773720 COSM1644720 c.1642C>T p.R548* Substitution - Nonsense 23:87633841-87633841 + TCGA-HU-A4G8-01 COSM4111467 c.1767C>A p.Y589* Substitution - Nonsense 23:87635617-87635617 + TCGA-FW-A3R5-06 COSM3914302 c.79C>T p.Q27* Substitution - Nonsense 23:87517972-87517972 + LUAD-NYU1051S COSM369052 c.1270A>G p.R424G Substitution - Missense 23:87625742-87625742 + TCGA-AA-A010-01 COSM282286 c.1832G>T p.G611V Substitution - Missense 23:87635682-87635682 + TCGA-EI-6507-01 COSM1569994 c.945delA p.N317fs*33 Deletion - Frameshift 23:87622231-87622231 + RK308_C01 COSM3766798 c.513A>G p.K171K Substitution - coding silent 23:87613967-87613967 + CHC2141T COSM4790141 c.1597G>A p.G533R Substitution - Missense 23:87633796-87633796 + TCGA-AA-A01D-01 COSM287162 c.1394G>A p.R465H Substitution - Missense 23:87632279-87632279 + TCGA-FU-A3HZ-01 COSM4839265 c.587A>G p.H196R Substitution - Missense 23:87614041-87614041 + TCGA-A6-6781-01 COSM1469800 c.1879G>A p.A627T Substitution - Missense 23:87635729-87635729 + 587330 COSM1212667 c.863G>A p.R288Q Substitution - Missense 23:87618067-87618067 + TCGA-AP-A056-01 COSM1126254 c.1027G>T p.E343* Substitution - Nonsense 23:87622313-87622313 + YUKAE COSM3563942 c.42C>T p.I14I Substitution - coding silent 23:87517935-87517935 + 2492726 COSM3563958 c.704C>T p.S235F Substitution - Missense 23:87614547-87614547 + CSCC-55-T COSM1126240 c.508C>T p.R170C Substitution - Missense 23:87613962-87613962 + TCGA-F5-6814-01 COSM3425001 c.1018C>T p.P340S Substitution - Missense 23:87622304-87622304 + L25 COSM5369653 c.68G>T p.S23I Substitution - Missense 23:87517961-87517961 + TCGA-06-0125-02 COSM3406648 c.303A>G p.Q101Q Substitution - coding silent 23:87518196-87518196 + RK038_C01 COSM3701897 c.438C>A p.H146Q Substitution - Missense 23:87613892-87613892 + cSCCP8 COSM140900 c.979G>A p.E327K Substitution - Missense 23:87622265-87622265 + CSCC-31-T COSM4457266 c.1039C>T p.H347Y Substitution - Missense 23:87622325-87622325 + Pat_08_B COSM5878393 c.1157C>T p.T386I Substitution - Missense 23:87625629-87625629 + TCGA-IR-A3LH-01 COSM4832295 c.796C>G p.Q266E Substitution - Missense 23:87618000-87618000 + CSCC-44-T COSM4569637 c.1908T>A p.L636L Substitution - coding silent 23:87635758-87635758 + TCGA-D1-A16Y-01 COSM1126264 c.1537C>T p.R513W Substitution - Missense 23:87632422-87632422 + LUAD-YINHD COSM388604 c.1200G>A p.L400L Substitution - coding silent 23:87625672-87625672 + TCGA-EA-A5FO-01 COSM4851852 c.1713-1G>T p.? Unknown 23:87635562-87635562 + SJRHB036A COSM3738290 c.1852T>C p.F618L Substitution - Missense 23:87635702-87635702 + CSCC-10-T COSM4475547 c.1999C>T p.P667S Substitution - Missense 23:87664837-87664837 + PT48 COSM3563940 c.22G>A p.E8K Substitution - Missense 23:87517915-87517915 + S02139 COSM5674754 c.1827T>A p.G609G Substitution - coding silent 23:87635677-87635677 + P123 COSM1735924 c.2142_2145delGAAA p.K715fs*>5 Deletion - Frameshift 23:87669373-87669376 + S00501 COSM5701071 c.1867_1868insG p.H625fs*2 Insertion - Frameshift 23:87635717-87635718 + ESO-1733 COSM1255990 c.1283_1284insG p.A430fs*18 Insertion - Frameshift 23:87625755-87625756 + 443 COSM4434803 c.48G>A p.R16R Substitution - coding silent 23:87517941-87517941 + BK0003 COSM4185493 c.58A>G p.R20G Substitution - Missense 23:87517951-87517951 + LUAD-S01357 COSM388045 c.654C>A p.A218A Substitution - coding silent 23:87614497-87614497 + HCC2998 COSM1682755 c.979G>T p.E327* Substitution - Nonsense 23:87622265-87622265 + CHC2103T COSM4952635 c.1259G>A p.R420Q Substitution - Missense 23:87625731-87625731 + ESO-021 COSM1255994 c.2135A>C p.Q712P Substitution - Missense 23:87669366-87669366 + H2171 COSM312375 c.1643G>T p.R548L Substitution - Missense 23:87633842-87633842 + TCGA-BR-4256-01 COSM4111471 c.1930G>T p.D644Y Substitution - Missense 23:87664768-87664768 + 2521262 COSM5892496 c.1568G>A p.G523E Substitution - Missense 23:87633767-87633767 + TCGA-ER-A19D-06 COSM3563974 c.1771G>A p.D591N Substitution - Missense 23:87635621-87635621 + PD4601a COSM162031 c.169C>T p.R57W Substitution - Missense 23:87518062-87518062 + S00836 COSM312376 c.1579G>T p.A527S Substitution - Missense 23:87633778-87633778 + TCGA-AP-A059-01 COSM1126266 c.1656C>T p.Y552Y Substitution - coding silent 23:87633855-87633855 + 202_T COSM3944440 c.1311G>T p.M437I Substitution - Missense 23:87625783-87625783 + LUAD-F00282 COSM367539 c.1070T>C p.V357A Substitution - Missense 23:87622356-87622356 + PD13311a COSM5790281 c.1324G>A p.G442S Substitution - Missense 23:87625796-87625796 + TCGA-AN-A046-01 COSM3845528 c.955G>T p.E319* Substitution - Nonsense 23:87622241-87622241 + 450 COSM4435688 c.590G>T p.R197M Substitution - Missense 23:87614044-87614044 + TCGA-D7-A4YU-01 COSM4111457 c.1418T>C p.V473A Substitution - Missense 23:87632303-87632303 + YURTHE COSM1126240 c.508C>T p.R170C Substitution - Missense 23:87613962-87613962 + TCGA-06-0122 COSM2149219 c.796C>T p.Q266* Substitution - Nonsense 23:87618000-87618000 + ESO-1608 COSM1255997 c.628A>C p.M210L Substitution - Missense 23:87614471-87614471 + C086 COSM5533478 c.1235G>A p.R412K Substitution - Missense 23:87625707-87625707 + CSCC-7-T COSM1212667 c.863G>A p.R288Q Substitution - Missense 23:87618067-87618067 + TCGA-IN-8462-01 COSM4111443 c.992T>G p.L331R Substitution - Missense 23:87622278-87622278 + I2L-P7-Tumor-Organoid COSM5366763 c.1775_1776delCA p.T594fs*1 Deletion - Frameshift 23:87635625-87635626 + 139 COSM3722303 c.427G>A p.D143N Substitution - Missense 23:87613881-87613881 + 98687 COSM321289 c.1081C>A p.Q361K Substitution - Missense 23:87622367-87622367 + TCGA-EE-A3AC-06 COSM3563976 c.1823G>A p.G608E Substitution - Missense 23:87635673-87635673 + CSCC-27-T COSM4533412 c.1979G>A p.R660Q Substitution - Missense 23:87664817-87664817 + CHC896T COSM4953586 c.1496T>C p.V499A Substitution - Missense 23:87632381-87632381 + TCGA-ET-A3DR-01 COSM3372346 c.2053A>G p.N685D Substitution - Missense 23:87664891-87664891 + TCGA-AA-3510-01 COSM1469778 c.119G>A p.G40E Substitution - Missense 23:87518012-87518012 + TCGA-HU-8602-01 COSM4111453 c.1205A>G p.E402G Substitution - Missense 23:87625677-87625677 + CSCC-10-T COSM4506060 c.70C>T p.H24Y Substitution - Missense 23:87517963-87517963 + 587376 COSM1212671 c.1447G>T p.G483* Substitution - Nonsense 23:87632332-87632332 + 46M COSM5588143 c.1550-1G>T p.? Unknown 23:87633748-87633748 + TCGA-BR-8680-01 COSM4111463 c.1623A>C p.E541D Substitution - Missense 23:87633822-87633822 + ESCC_77 COSM5635415 c.1819C>T p.R607C Substitution - Missense 23:87635669-87635669 + YULAN COSM140900 c.979G>A p.E327K Substitution - Missense 23:87622265-87622265 + PT48 COSM5934185 c.566G>A p.G189E Substitution - Missense 23:87614020-87614020 + TCGA-BS-A0UV-01 COSM1126231 c.77T>G p.F26C Substitution - Missense 23:87517970-87517970 + TCGA-AG-3892-01 COSM257248 c.339G>T p.K113N Substitution - Missense 23:87518232-87518232 + TCGA-EI-6506-01 COSM1569998 c.24G>C p.E8D Substitution - Missense 23:87517917-87517917 + TCGA-13-0760-01 COSM75170 c.842C>A p.P281H Substitution - Missense 23:87618046-87618046 + CSCC-11-T COSM4520586 c.1066G>A p.D356N Substitution - Missense 23:87622352-87622352 + CHC2103T COSM4952635 c.1259G>A p.R420Q Substitution - Missense 23:87625731-87625731 + TCGA-AP-A051-01 COSM1126277 c.2140C>T p.L714L Substitution - coding silent 23:87669371-87669371 + TCGA-CG-4465-01 COSM4111461 c.1536T>C p.H512H Substitution - coding silent 23:87632421-87632421 + TCGA-GN-A269-01 COSM3563958 c.704C>T p.S235F Substitution - Missense 23:87614547-87614547 + CSCC-10-T COSM140900 c.979G>A p.E327K Substitution - Missense 23:87622265-87622265 + PT37 COSM3563946 c.115G>A p.E39K Substitution - Missense 23:87518008-87518008 + ESCC-184T COSM3940142 c.1219C>T p.H407Y Substitution - Missense 23:87625691-87625691 + LUAD-NYU408 COSM374727 c.1917T>C p.C639C Substitution - coding silent 23:87635767-87635767 + ESO-105 COSM1255995 c.800T>C p.V267A Substitution - Missense 23:87618004-87618004 + TCGA-EE-A29E-06 COSM3563942 c.42C>T p.I14I Substitution - coding silent 23:87517935-87517935 + TCGA-DA-A1IC-06 COSM488681 c.1849G>A p.G617R Substitution - Missense 23:87635699-87635699 + TCGA-EE-A2GU-06 COSM3563968 c.1448G>A p.G483E Substitution - Missense 23:87632333-87632333 + HCC041T COSM3143116 c.1538G>A p.R513Q Substitution - Missense 23:87632423-87632423 + TCGA-GF-A6C9-06 COSM4902124 c.667G>A p.V223I Substitution - Missense 23:87614510-87614510 + TCGA-A4-7583-01 COSM3992593 c.167C>G p.S56C Substitution - Missense 23:87518060-87518060 + TCGA-D3-A5GS-06 COSM3563940 c.22G>A p.E8K Substitution - Missense 23:87517915-87517915 + S02237 COSM5676677 c.262G>C p.V88L Substitution - Missense 23:87518155-87518155 + TCGA-BP-5199-01 COSM488681 c.1849G>A p.G617R Substitution - Missense 23:87635699-87635699 + SC_9061 COSM5553053 c.662A>G p.E221G Substitution - Missense 23:87614505-87614505 + 1920_T COSM3944438 c.1180C>G p.L394V Substitution - Missense 23:87625652-87625652 + ESCC_124 COSM5641061 c.1162T>C p.S388P Substitution - Missense 23:87625634-87625634 + TCGA-EI-6917-01 COSM3425003 c.1414G>A p.A472T Substitution - Missense 23:87632299-87632299 + HCC2998 COSM3143090 c.1089A>G p.E363E Substitution - coding silent 23:87622375-87622375 + H2171 COSM25542 c.1203G>C p.M401I Substitution - Missense 23:87625675-87625675 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.48966;Hs.49053;Hs.49063;Hs.49075 Xq21.3 300348

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.422+8698A>C X 86782016 CLL A C IntronicSNV . c.423-18545A>C X 86850335 CLL A C IntronicSNV . c.925-919A>C X 86876292 CLL A C Missense p.I459L c.1375A>C X 86887260 CM A C Missense p.M210L c.628A>C X 86869474 ESCA A C Missense p.Q712P c.2135A>C X 86924366 ESCA - A Frameshift p.E546Rfs*15 c.1635_1636insA X 86888834 STAD A G IntronicSNV . c.2097+1552A>G X 86921487 LUAD A G IntronicSNV . c.2097+1632A>G X 86921567 CM A G Missense p.N174S c.521A>G X 86868978 CM A G Missense p.N685D c.2053A>G X 86919891 THCA A G Missense p.Q246R c.737A>G X 86872944 UCEC A G SpliceAcceptorSNV . c.728-2A>G X 86872933 BRCA A G Synonymous p.Q101Q c.303A>G X 86773199 GBM A T IntronicSNV . c.423-26976A>T X 86841904 CLL A T Missense p.N72Y c.214A>T X 86773110 NSCLC A T Missense p.R360W c.1078A>T X 86877364 LUAD C A IntronicSNV . c.2097+1591C>A X 86921526 LUAD C A Missense p.H164N c.490C>A X 86868947 LUAD C A Missense p.P281H c.842C>A X 86873049 OV C A Missense p.P423H c.1268C>A X 86880740 LUAD C A Missense p.P68T c.202C>A X 86773098 LUSC C A Missense p.Q220K c.658C>A X 86869504 LUAD C A Missense p.Q361K c.1081C>A X 86877367 SCLC C A Missense p.R465S c.1393C>A X 86887278 GBM C A Missense p.S147Y c.440C>A X 86868897 BRCA C A Missense p.T386N c.1157C>A X 86880629 BRCA C A Nonsense p.S649* c.1946C>A X 86919784 HNSC C A Nonsense p.Y370* c.1110C>A X 86877396 HNSC C A Synonymous p.P508P c.1524C>A X 86887409 LUAD CC TT Missense p.P410F c.1228_1229delinsTT X 86880700 CM C G Synonymous p.V267V c.801C>G X 86873008 COREAD C T 3-UTRSNV . c.2160+40C>T X 86924431 CM C T 5-UTRSNV . c.1-12C>T X 86772885 CM C T IntronicSNV . c.2097+1688C>T X 86921623 CM C T Missense p.H593Y c.1777C>T X 86890627 UCEC C T Missense p.L331F c.991C>T X 86877277 UCEC C T Missense p.P628S c.1882C>T X 86890732 LUAD C T Missense p.R513W c.1537C>T X 86887422 UCEC C T Missense p.R578C c.1732C>T X 86890582 HNSC C T Missense p.R57W c.169C>T X 86773065 BRCA C T Missense p.S235F c.704C>T X 86869550 CM C T Missense p.S557L c.1670C>T X 86888869 GBM C T Missense p.S630F c.1889C>T X 86890739 HNSC C T Missense p.T453I c.1358C>T X 86887243 CM C T Nonsense p.Q266* c.796C>T X 86873003 GBM C T Synonymous p.C633C c.1899C>T X 86890749 NSCLC G A IntronicSNV . c.1926-10689G>A X 86909075 PIA G A IntronicSNV . c.2097+1540G>A X 86921475 CM G A IntronicSNV . c.2098-788G>A X 86923541 ALL G A Missense p.A240T c.718G>A X 86869564 HNSC G A Missense p.D132N c.394G>A X 86773290 STAD G A Missense p.D183N c.547G>A X 86869004 CM G A Missense p.D205N c.613G>A X 86869459 CM G A Missense p.D591N c.1771G>A X 86890621 CM G A Missense p.E173K c.517G>A X 86868974 CM G A Missense p.E39K c.115G>A X 86773011 CM G A Missense p.E494K c.1480G>A X 86887365 COREAD G A Missense p.E541K c.1621G>A X 86888820 HNSC G A Missense p.G227R c.679G>A X 86869525 CM G A Missense p.G354E c.1061G>A X 86877347 UCEC G A Missense p.G362R c.1084G>A X 86877370 CM G A Missense p.G45R c.133G>A X 86773029 CM G A Missense p.G482E c.1445G>A X 86887330 CM G A Missense p.G483E c.1448G>A X 86887333 CM G A Missense p.G483R c.1447G>A X 86887332 BRCA G A Missense p.G523R c.1567G>A X 86888766 CM G A Missense p.G580E c.1739G>A X 86890589 CM G A Missense p.G608E c.1823G>A X 86890673 CM G A Missense p.G617R c.1849G>A X 86890699 CM G A Missense p.G617R c.1849G>A X 86890699 RCCC G A Missense p.M401I c.1203G>A X 86880675 CM G A Missense p.M440I c.1320G>A X 86880792 CM G A Missense p.R170H c.509G>A X 86868966 STAD G A Missense p.R18H c.53G>A X 86772949 COREAD G A Missense p.R192H c.575G>A X 86869032 COREAD G A Missense p.R288Q c.863G>A X 86873070 CM G A Missense p.R465H c.1394G>A X 86887279 COREAD G A Missense p.R578H c.1733G>A X 86890583 GBM G A Missense p.V481M c.1441G>A X 86887326 COREAD G A Missense p.V553I c.1657G>A X 86888856 PRAD G A Missense p.V621I c.1861G>A X 86890711 UCEC G A Nonsense p.W697* c.2091G>A X 86919929 CM G A Synonymous p.L684L c.2052G>A X 86919890 HNSC G A Synonymous p.L718L c.2154G>A X 86924385 UCEC G A Synonymous p.L96L c.288G>A X 86773184 CM G A Synonymous p.Q712Q c.2136G>A X 86924367 CM G A Synonymous p.V640V c.1920G>A X 86890770 STAD G C Missense p.A654P c.1960G>C X 86919798 PRAD G C Missense p.D475H c.1423G>C X 86887308 LUAD G C Missense p.G227A c.680G>C X 86869526 LUAD G C Missense p.M150I c.450G>C X 86868907 LUAD GCTCCAG - Frameshift p.S634Ffs*21 c.1901_1907delCCAGGCT X 86890748 HNSC - G Frameshift p.A430Gfs*18 c.1288dupG X 86880756 ESCA - G Frameshift p.H625Afs*2 c.1872dupG X 86890718 SCLC G T IntronicSNV . c.2097+1587G>T X 86921522 RCCC G T Missense p.A527S c.1579G>T X 86888778 SCLC G T Missense p.D644Y c.1930G>T X 86919768 STAD G T Missense p.E716D c.2148G>T X 86924379 UCEC G T Missense p.G40V c.119G>T X 86773015 LUAD G T Missense p.G464V c.1391G>T X 86887276 LUAD G T Missense p.G486C c.1456G>T X 86887341 NSCLC G T Missense p.G576C c.1726G>T X 86890576 LUSC G T Missense p.G79V c.236G>T X 86773132 HNSC G T Missense p.M172I c.516G>T X 86868973 STAD G T Missense p.Q238H c.714G>T X 86869560 LUSC G T Missense p.Q358H c.1074G>T X 86877360 HNSC G T Missense p.Q712H c.2136G>T X 86924367 UCEC G T Missense p.Q85H c.255G>T X 86773151 COREAD G T Missense p.R51S c.153G>T X 86773049 LUSC G T Missense p.R694I c.2081G>T X 86919919 LUSC G T Missense p.S54I c.161G>T X 86773057 HNSC G T Missense p.V199F c.595G>T X 86869441 LUAD G T Missense p.W543L c.1628G>T X 86888827 LUSC G T Nonsense p.E385* c.1153G>T X 86880625 CM G T SpliceAcceptorSNV . c.591-1G>T X 86869436 LUSC G T Synonymous p.L364L c.1092G>T X 86877378 LUAD T A Missense p.H24Q c.72T>A X 86772968 BRCA T A Missense p.N491K c.1473T>A X 86887358 COREAD T A Missense p.V566D c.1697T>A X 86888896 LUAD T A Missense p.Y526N c.1576T>A X 86888775 OV T A Missense p.Y536N c.1606T>A X 86888805 LUSC T C Missense p.V267A c.800T>C X 86873007 ESCA T C Synonymous p.D132D c.396T>C X 86773292 AML T C Synonymous p.H512H c.1536T>C X 86887421 STAD T C Synonymous p.Y536Y c.1608T>C X 86888807 ESCA - T Frameshift p.G577Wfs*3 c.1728dupT X 86890578 LUAD T - Frameshift p.S586Qfs*37 c.1756delT X 86890606 RCCC T G IntronicSNV . c.1925+13740T>G X 86904515 CLL T G Missense p.F469C c.1406T>G X 86887291 STAD T G Missense p.F9C c.26T>G X 86772922 ESCA T G Missense p.V473G c.1418T>G X 86887303 STAD T G Missense p.V663G c.1988T>G X 86919826 STAD T G Synonymous p.L331L c.993T>G X 86877279 CLL