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 6 38561778 38561778 + Nonsense_Mutation SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr6:38561778C>A c.511G>T c.(511-513)Gaa>Taa p.E171* BLCA 6 38142836 38142836 + Silent SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr6:38142836C>T c.1764G>A c.(1762-1764)ctG>ctA p.L588L BLCA 6 38256066 38256066 + Missense_Mutation SNP T T C TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr6:38256066T>C c.1436A>G c.(1435-1437)tAc>tGc p.Y479C BLCA 6 38548069 38548069 + Missense_Mutation SNP G G A TCGA-DK-AA6X-01A-12D-A42E-08 TCGA-DK-AA6X-10A-01D-A42H-08 g.chr6:38548069G>A c.959C>T c.(958-960)tCc>tTc p.S320F BLCA 6 38548141 38548141 + Nonsense_Mutation SNP A A C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr6:38548141A>C c.887T>G c.(886-888)tTa>tGa p.L296* BLCA 6 38561774 38561774 + Missense_Mutation SNP A A G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr6:38561774A>G c.515T>C c.(514-516)gTc>gCc p.V172A BLCA 6 38561892 38561892 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr6:38561892G>A c.397C>T c.(397-399)Ctc>Ttc p.L133F BRCA 6 38548069 38548069 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr6:38548069G>A c.959C>T c.(958-960)tCc>tTc p.S320F BRCA 6 38562052 38562052 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr6:38562052A>G c.237T>C c.(235-237)ccT>ccC p.P79P CESC 6 38548046 38548046 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr6:38548046G>C c.982C>G c.(982-984)Cag>Gag p.Q328E CESC 6 38548069 38548069 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr6:38548069G>A c.959C>T c.(958-960)tCc>tTc p.S320F CESC 6 38560593 38560593 + Silent SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr6:38560593T>C c.573A>G c.(571-573)ttA>ttG p.L191L CESC 6 38562104 38562104 + Splice_Site SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 g.chr6:38562104C>T c.e3-1 COAD 6 38142791 38142791 + Silent SNP G G A TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr6:38142791G>A c.1809C>T c.(1807-1809)aaC>aaT p.N603N COAD 6 38142900 38142900 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:38142900delT c.1700delA c.(1699-1701)aatfs p.N567fs COAD 6 38160363 38160363 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:38160363A>G c.1573T>C c.(1573-1575)Tca>Cca p.S525P COAD 6 38256201 38256201 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:38256201G>A c.1301C>T c.(1300-1302)gCc>gTc p.A434V COAD 6 38312792 38312792 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:38312792T>C c.1232A>G c.(1231-1233)aAc>aGc p.N411S COAD 6 38548021 38548021 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr6:38548021C>T c.1007G>A c.(1006-1008)cGg>cAg p.R336Q COAD 6 38565733 38565733 + Silent SNP A A G TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr6:38565733A>G c.138T>C c.(136-138)cgT>cgC p.R46R COAD 6 38565733 38565733 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:38565733A>G c.138T>C c.(136-138)cgT>cgC p.R46R COAD 6 38565734 38565734 + Missense_Mutation SNP C C T TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr6:38565734C>T c.137G>A c.(136-138)cGt>cAt p.R46H COAD 6 38565739 38565739 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:38565739C>A c.132G>T c.(130-132)aaG>aaT p.K44N COAD 6 38565796 38565796 + Silent SNP A A G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr6:38565796A>G c.75T>C c.(73-75)caT>caC p.H25H COADREAD 6 38142791 38142791 + Silent SNP G G A TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr6:38142791G>A c.1809C>T c.(1807-1809)aaC>aaT p.N603N COADREAD 6 38142900 38142900 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr6:38142900delT c.1700delA c.(1699-1701)aatfs p.N567fs COADREAD 6 38160363 38160363 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:38160363A>G c.1573T>C c.(1573-1575)Tca>Cca p.S525P COADREAD 6 38256201 38256201 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:38256201G>A c.1301C>T c.(1300-1302)gCc>gTc p.A434V COADREAD 6 38312792 38312792 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:38312792T>C c.1232A>G c.(1231-1233)aAc>aGc p.N411S COADREAD 6 38548021 38548021 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr6:38548021C>T c.1007G>A c.(1006-1008)cGg>cAg p.R336Q COADREAD 6 38565733 38565733 + Silent SNP A A G TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr6:38565733A>G c.138T>C c.(136-138)cgT>cgC p.R46R COADREAD 6 38565733 38565733 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:38565733A>G c.138T>C c.(136-138)cgT>cgC p.R46R COADREAD 6 38565734 38565734 + Missense_Mutation SNP C C T TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr6:38565734C>T c.137G>A c.(136-138)cGt>cAt p.R46H COADREAD 6 38565739 38565739 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:38565739C>A c.132G>T c.(130-132)aaG>aaT p.K44N COADREAD 6 38565796 38565796 + Silent SNP A A G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr6:38565796A>G c.75T>C c.(73-75)caT>caC p.H25H DLBC 6 38545397 38545397 + Missense_Mutation SNP T T C TCGA-FA-A6HN-01A-11D-A31X-10 TCGA-FA-A6HN-10A-01D-A31X-10 g.chr6:38545397T>C c.1133A>G c.(1132-1134)tAt>tGt p.Y378C ESCA 6 38560574 38560574 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr6:38560574G>T c.592C>A c.(592-594)Ccc>Acc p.P198T GBM 6 38224188 38224188 + Missense_Mutation SNP C C A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr6:38224188C>A c.1559G>T c.(1558-1560)tGc>tTc p.C520F GBM 6 38256068 38256068 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 g.chr6:38256068C>T c.1434G>A c.(1432-1434)ccG>ccA p.P478P GBM 6 38256182 38256182 + Silent SNP G G T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chr6:38256182G>T c.1320C>A c.(1318-1320)gtC>gtA p.V440V GBMLGG 6 38224188 38224188 + Missense_Mutation SNP C C A TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr6:38224188C>A c.1559G>T c.(1558-1560)tGc>tTc p.C520F GBMLGG 6 38256068 38256068 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 g.chr6:38256068C>T c.1434G>A c.(1432-1434)ccG>ccA p.P478P GBMLGG 6 38256182 38256182 + Silent SNP G G T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chr6:38256182G>T c.1320C>A c.(1318-1320)gtC>gtA p.V440V HNSC 6 38256211 38256211 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr6:38256211C>A c.1291G>T c.(1291-1293)Gct>Tct p.A431S HNSC 6 38548147 38548147 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:38548147G>A c.881C>T c.(880-882)gCc>gTc p.A294V KIPAN 6 38160335 38160335 + Missense_Mutation SNP G G T TCGA-CZ-5452-01A-01D-1501-10 TCGA-CZ-5452-11A-01D-1501-10 g.chr6:38160335G>T c.1601C>A c.(1600-1602)tCc>tAc p.S534Y KIPAN 6 38224273 38224273 + Missense_Mutation SNP C C A TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr6:38224273C>A c.1474G>T c.(1474-1476)Gat>Tat p.D492Y KIRC 6 38160335 38160335 + Missense_Mutation SNP G G T TCGA-CZ-5452-01A-01D-1501-10 TCGA-CZ-5452-11A-01D-1501-10 g.chr6:38160335G>T c.1601C>A c.(1600-1602)tCc>tAc p.S534Y KIRC 6 38224273 38224273 + Missense_Mutation SNP C C A TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr6:38224273C>A c.1474G>T c.(1474-1476)Gat>Tat p.D492Y LIHC 6 38565731 38565731 + Missense_Mutation SNP A A G TCGA-BW-A5NO-01A-11D-A27I-10 TCGA-BW-A5NO-10A-01D-A27I-10 g.chr6:38565731A>G c.140T>C c.(139-141)tTt>tCt p.F47S LUAD 6 38224278 38224278 + Missense_Mutation SNP T T C TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chr6:38224278T>C c.1469A>G c.(1468-1470)gAt>gGt p.D490G LUAD 6 38256120 38256120 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 g.chr6:38256120T>C c.1382A>G c.(1381-1383)tAc>tGc p.Y461C LUAD 6 38312814 38312814 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr6:38312814C>G c.1210G>C c.(1210-1212)Gct>Cct p.A404P LUAD 6 38545386 38545386 + Missense_Mutation SNP G G A TCGA-93-A4JO-01A-21D-A24P-08 TCGA-93-A4JO-10A-01D-A24P-08 g.chr6:38545386G>A c.1144C>T c.(1144-1146)Cgt>Tgt p.R382C LUAD 6 38545399 38545399 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr6:38545399T>A c.1131A>T c.(1129-1131)ttA>ttT p.L377F LUAD 6 38545402 38545402 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr6:38545402T>A c.1128A>T c.(1126-1128)aaA>aaT p.K376N LUAD 6 38545426 38545426 + Silent SNP T T C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chr6:38545426T>C c.1104A>G c.(1102-1104)caA>caG p.Q368Q LUAD 6 38548069 38548069 + Missense_Mutation SNP G G A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr6:38548069G>A c.959C>T c.(958-960)tCc>tTc p.S320F LUAD 6 38548125 38548125 + Silent SNP T T C TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr6:38548125T>C c.903A>G c.(901-903)caA>caG p.Q301Q LUAD 6 38560388 38560388 + Missense_Mutation SNP T T A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr6:38560388T>A c.778A>T c.(778-780)Agc>Tgc p.S260C LUAD 6 38560523 38560523 + Nonsense_Mutation SNP T T A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr6:38560523T>A c.643A>T c.(643-645)Aag>Tag p.K215* LUAD 6 38560592 38560592 + Nonsense_Mutation SNP T T A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr6:38560592T>A c.574A>T c.(574-576)Aga>Tga p.R192* LUAD 6 38561993 38561993 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr6:38561993C>A c.296G>T c.(295-297)cGg>cTg p.R99L LUAD 6 38562074 38562074 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 g.chr6:38562074G>C c.215C>G c.(214-216)tCt>tGt p.S72C LUSC 6 38560460 38560460 + Missense_Mutation SNP G G C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr6:38560460G>C c.706C>G c.(706-708)Ctg>Gtg p.L236V OV 6 38561994 38561994 + Missense_Mutation SNP G G A TCGA-29-1701-01A-01W-0633-09 TCGA-29-1701-10A-01W-0633-09 g.chr6:38561994G>A c.295C>T c.(295-297)Cgg>Tgg p.R99W PAAD 6 38312855 38312855 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:38312855A>C c.1169T>G c.(1168-1170)gTt>gGt p.V390G PRAD 6 38545497 38545497 + Splice_Site SNP T T A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 g.chr6:38545497T>A c.e6-2 PRAD 6 38548004 38548004 + Nonsense_Mutation SNP G G A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 g.chr6:38548004G>A c.1024C>T c.(1024-1026)Cga>Tga p.R342* SKCM 6 38142888 38142888 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr6:38142888G>A c.1712C>T c.(1711-1713)tCg>tTg p.S571L SKCM 6 38160295 38160295 + Splice_Site SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr6:38160295C>T c.1641G>A c.(1639-1641)gaG>gaA p.E547E SKCM 6 38160328 38160328 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr6:38160328G>A c.1608C>T c.(1606-1608)atC>atT p.I536I SKCM 6 38256186 38256186 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr6:38256186C>T c.1316G>A c.(1315-1317)gGa>gAa p.G439E SKCM 6 38545387 38545387 + Silent SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr6:38545387G>A c.1143C>T c.(1141-1143)gcC>gcT p.A381A SKCM 6 38547997 38547997 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr6:38547997C>G c.1031G>C c.(1030-1032)aGc>aCc p.S344T SKCM 6 38548061 38548061 + Missense_Mutation SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr6:38548061C>T c.967G>A c.(967-969)Gag>Aag p.E323K SKCM 6 38560427 38560427 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr6:38560427G>A c.739C>T c.(739-741)Cct>Tct p.P247S SKCM 6 38560550 38560550 + Silent SNP A A G TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr6:38560550A>G c.616T>C c.(616-618)Tta>Cta p.L206L SKCM 6 38560556 38560556 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr6:38560556G>A c.610C>T c.(610-612)Cta>Tta p.L204L SKCM 6 38561815 38561815 + Silent SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:38561815A>C c.474T>G c.(472-474)acT>acG p.T158T SKCM 6 38561844 38561844 + Missense_Mutation SNP C C T TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 g.chr6:38561844C>T c.445G>A c.(445-447)Gcc>Acc p.A149T SKCM 6 38561937 38561937 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr6:38561937G>A c.352C>T c.(352-354)Cat>Tat p.H118Y SKCM 6 38565687 38565687 + Splice_Site SNP G G A TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr6:38565687G>A c.184C>T c.(184-186)Cga>Tga p.R62* SKCM 6 38565854 38565854 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr6:38565854G>A c.17C>T c.(16-18)cCt>cTt p.P6L

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 6 38561774 38561774 single base substitution A G downstream_gene_variant BLCA-US 6 38561774 38561774 single base substitution A G exon_variant BLCA-US 6 38561774 38561774 single base substitution A G missense_variant V104A 311T>C BLCA-US 6 38561774 38561774 single base substitution A G missense_variant V113A 338T>C BLCA-US 6 38561774 38561774 single base substitution A G missense_variant V172A 515T>C BOCA-FR 6 38136322 38136322 single base substitution G A 3_prime_UTR_variant BOCA-FR 6 38508905 38508905 single base substitution A G intron_variant BOCA-FR 6 38541351 38541351 single base substitution C T intron_variant BRCA-EU 6 38132246 38132246 single base substitution C T downstream_gene_variant BRCA-EU 6 38133210 38133210 single base substitution G A downstream_gene_variant BRCA-EU 6 38133754 38133754 single base substitution C A downstream_gene_variant BRCA-EU 6 38136665 38136665 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 38136982 38136982 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 38137667 38137667 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 38137997 38137999 deletion of <=200bp GGG - 3_prime_UTR_variant BRCA-EU 6 38137997 38137999 deletion of <=200bp GGG - downstream_gene_variant BRCA-EU 6 38140208 38140208 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 38140208 38140208 single base substitution G A downstream_gene_variant BRCA-EU 6 38141194 38141194 single base substitution A T 3_prime_UTR_variant BRCA-EU 6 38141194 38141194 single base substitution A T downstream_gene_variant BRCA-EU 6 38141402 38141402 single base substitution T G 3_prime_UTR_variant BRCA-EU 6 38141402 38141402 single base substitution T G downstream_gene_variant BRCA-EU 6 38141427 38141427 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 38141427 38141427 single base substitution C T downstream_gene_variant BRCA-EU 6 38143444 38143444 single base substitution T C intron_variant BRCA-EU 6 38144268 38144268 single base substitution C T intron_variant BRCA-EU 6 38144775 38144775 single base substitution G A intron_variant BRCA-EU 6 38144804 38144804 single base substitution C G intron_variant BRCA-EU 6 38146849 38146849 single base substitution G C intron_variant BRCA-EU 6 38149980 38149980 single base substitution C T intron_variant BRCA-EU 6 38150019 38150019 single base substitution T G intron_variant BRCA-EU 6 38151745 38151745 single base substitution G C intron_variant BRCA-EU 6 38151957 38151957 single base substitution C G intron_variant BRCA-EU 6 38153246 38153246 single base substitution G C intron_variant BRCA-EU 6 38153552 38153552 single base substitution A G intron_variant BRCA-EU 6 38153599 38153599 single base substitution G A intron_variant BRCA-EU 6 38153645 38153645 single base substitution C T intron_variant BRCA-EU 6 38153677 38153677 single base substitution G C intron_variant BRCA-EU 6 38156589 38156589 single base substitution G C intron_variant BRCA-EU 6 38157665 38157665 single base substitution G T intron_variant BRCA-EU 6 38157998 38157998 single base substitution C G intron_variant BRCA-EU 6 38158315 38158315 single base substitution C G intron_variant BRCA-EU 6 38158551 38158551 deletion of <=200bp A - intron_variant BRCA-EU 6 38159001 38159001 single base substitution C A intron_variant BRCA-EU 6 38159339 38159339 single base substitution G A intron_variant BRCA-EU 6 38160458 38160458 single base substitution G A intron_variant BRCA-EU 6 38161392 38161392 single base substitution G C intron_variant BRCA-EU 6 38162963 38162963 single base substitution G C intron_variant BRCA-EU 6 38163055 38163055 single base substitution G A intron_variant BRCA-EU 6 38163949 38163949 single base substitution G C intron_variant BRCA-EU 6 38164805 38164805 single base substitution T C intron_variant BRCA-EU 6 38164815 38164815 single base substitution G A intron_variant BRCA-EU 6 38165613 38165613 single base substitution T A intron_variant BRCA-EU 6 38166298 38166298 single base substitution G A intron_variant BRCA-EU 6 38166299 38166299 single base substitution C G intron_variant BRCA-EU 6 38166595 38166595 single base substitution T A intron_variant BRCA-EU 6 38166722 38166722 single base substitution C A intron_variant BRCA-EU 6 38168817 38168817 single base substitution A T intron_variant BRCA-EU 6 38169004 38169004 single base substitution C G intron_variant BRCA-EU 6 38169538 38169538 single base substitution C T intron_variant BRCA-EU 6 38171426 38171426 single base substitution G A intron_variant BRCA-EU 6 38172614 38172614 deletion of <=200bp A - intron_variant BRCA-EU 6 38177228 38177228 single base substitution C G intron_variant BRCA-EU 6 38177325 38177325 single base substitution C G intron_variant BRCA-EU 6 38178775 38178775 single base substitution C T intron_variant BRCA-EU 6 38179340 38179340 single base substitution G A intron_variant BRCA-EU 6 38179806 38179806 single base substitution A T intron_variant BRCA-EU 6 38180731 38180731 single base substitution C G intron_variant BRCA-EU 6 38181106 38181106 single base substitution G A intron_variant BRCA-EU 6 38181602 38181602 deletion of <=200bp A - intron_variant BRCA-EU 6 38181759 38181759 single base substitution G C intron_variant BRCA-EU 6 38182143 38182143 single base substitution C T intron_variant BRCA-EU 6 38183649 38183649 single base substitution C G intron_variant BRCA-EU 6 38184795 38184795 single base substitution C G intron_variant BRCA-EU 6 38185434 38185434 single base substitution C T intron_variant BRCA-EU 6 38185489 38185489 insertion of <=200bp - A intron_variant BRCA-EU 6 38186143 38186143 single base substitution G C intron_variant BRCA-EU 6 38188110 38188110 single base substitution T C intron_variant BRCA-EU 6 38188336 38188336 single base substitution G A intron_variant BRCA-EU 6 38188778 38188778 single base substitution C G intron_variant BRCA-EU 6 38189113 38189113 single base substitution A T intron_variant BRCA-EU 6 38189310 38189310 single base substitution C T intron_variant BRCA-EU 6 38190676 38190676 single base substitution A C intron_variant BRCA-EU 6 38191091 38191091 single base substitution T C intron_variant BRCA-EU 6 38191478 38191478 single base substitution C T intron_variant BRCA-EU 6 38191986 38191986 single base substitution C G intron_variant BRCA-EU 6 38193785 38193785 single base substitution C A intron_variant BRCA-EU 6 38195173 38195173 single base substitution A C intron_variant BRCA-EU 6 38195503 38195503 single base substitution G C intron_variant BRCA-EU 6 38195969 38195969 single base substitution C T intron_variant BRCA-EU 6 38196890 38196890 single base substitution C G intron_variant BRCA-EU 6 38199219 38199219 single base substitution G A intron_variant BRCA-EU 6 38199855 38199855 single base substitution C A intron_variant BRCA-EU 6 38201042 38201042 single base substitution T A intron_variant BRCA-EU 6 38202128 38202128 single base substitution G A intron_variant BRCA-EU 6 38202211 38202211 single base substitution C G intron_variant BRCA-EU 6 38203155 38203155 single base substitution C T intron_variant BRCA-EU 6 38203426 38203426 single base substitution G C intron_variant BRCA-EU 6 38204351 38204351 single base substitution G T intron_variant BRCA-EU 6 38205273 38205273 single base substitution C T intron_variant BRCA-EU 6 38205517 38205517 single base substitution G A intron_variant BRCA-EU 6 38206938 38206938 single base substitution G C intron_variant BRCA-EU 6 38209062 38209062 single base substitution G A intron_variant BRCA-EU 6 38209159 38209159 single base substitution A C intron_variant BRCA-EU 6 38210338 38210338 single base substitution T C intron_variant BRCA-EU 6 38213526 38213526 single base substitution G A intron_variant BRCA-EU 6 38215689 38215689 single base substitution C G intron_variant BRCA-EU 6 38216131 38216131 single base substitution G C intron_variant BRCA-EU 6 38216213 38216213 single base substitution G A intron_variant BRCA-EU 6 38218101 38218101 single base substitution G T intron_variant BRCA-EU 6 38218381 38218381 single base substitution G T intron_variant BRCA-EU 6 38218559 38218559 single base substitution G T intron_variant BRCA-EU 6 38218768 38218768 single base substitution G A intron_variant BRCA-EU 6 38221698 38221698 single base substitution G A intron_variant BRCA-EU 6 38222269 38222269 single base substitution T A intron_variant BRCA-EU 6 38223660 38223660 single base substitution C T intron_variant BRCA-EU 6 38223816 38223816 single base substitution C T intron_variant BRCA-EU 6 38223944 38223944 single base substitution C A intron_variant BRCA-EU 6 38224483 38224483 single base substitution G A intron_variant BRCA-EU 6 38226659 38226659 single base substitution C G intron_variant BRCA-EU 6 38226703 38226703 single base substitution T C intron_variant BRCA-EU 6 38228314 38228314 deletion of <=200bp A - intron_variant BRCA-EU 6 38228736 38228736 single base substitution C T intron_variant BRCA-EU 6 38229000 38229000 single base substitution C T intron_variant BRCA-EU 6 38229011 38229011 single base substitution A C intron_variant BRCA-EU 6 38229509 38229509 single base substitution G A intron_variant BRCA-EU 6 38229886 38229886 single base substitution C G intron_variant BRCA-EU 6 38230158 38230158 single base substitution G C intron_variant BRCA-EU 6 38230627 38230627 single base substitution G T intron_variant BRCA-EU 6 38231155 38231155 deletion of <=200bp T - intron_variant BRCA-EU 6 38231574 38231574 single base substitution T A intron_variant BRCA-EU 6 38231714 38231714 single base substitution G A intron_variant BRCA-EU 6 38231735 38231735 single base substitution C T intron_variant BRCA-EU 6 38231736 38231736 single base substitution C T intron_variant BRCA-EU 6 38233120 38233120 single base substitution T C intron_variant BRCA-EU 6 38233844 38233844 deletion of <=200bp A - intron_variant BRCA-EU 6 38234050 38234050 single base substitution A C intron_variant BRCA-EU 6 38234210 38234210 single base substitution G A intron_variant BRCA-EU 6 38236034 38236034 deletion of <=200bp C - intron_variant BRCA-EU 6 38236908 38236908 single base substitution C G intron_variant BRCA-EU 6 38239189 38239189 deletion of <=200bp T - intron_variant BRCA-EU 6 38239941 38239941 single base substitution G T intron_variant BRCA-EU 6 38240495 38240495 single base substitution C G intron_variant BRCA-EU 6 38241332 38241332 single base substitution T C intron_variant BRCA-EU 6 38241946 38241946 single base substitution G A intron_variant BRCA-EU 6 38244059 38244059 single base substitution G A intron_variant BRCA-EU 6 38247822 38247822 single base substitution A C intron_variant BRCA-EU 6 38249926 38249926 single base substitution C G intron_variant BRCA-EU 6 38251908 38251908 single base substitution C G intron_variant BRCA-EU 6 38252333 38252333 deletion of <=200bp C - intron_variant BRCA-EU 6 38253126 38253126 single base substitution A C intron_variant BRCA-EU 6 38255481 38255481 single base substitution C T intron_variant BRCA-EU 6 38255819 38255841 deletion of <=200bp AGTTCCTCCATGAGTCTAACTTC - intron_variant BRCA-EU 6 38256181 38256181 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 38256181 38256181 single base substitution T C missense_variant S373G 1117A>G BRCA-EU 6 38256181 38256181 single base substitution T C missense_variant S411G 1231A>G BRCA-EU 6 38256181 38256181 single base substitution T C missense_variant S441G 1321A>G BRCA-EU 6 38256340 38256340 single base substitution G C intron_variant BRCA-EU 6 38258854 38258854 single base substitution G T intron_variant BRCA-EU 6 38258971 38258971 single base substitution G C intron_variant BRCA-EU 6 38259683 38259683 single base substitution G C intron_variant BRCA-EU 6 38260778 38260778 single base substitution G C intron_variant BRCA-EU 6 38261390 38261390 single base substitution C G intron_variant BRCA-EU 6 38261442 38261442 single base substitution C A intron_variant BRCA-EU 6 38262196 38262196 single base substitution T C intron_variant BRCA-EU 6 38262698 38262698 single base substitution C G intron_variant BRCA-EU 6 38262746 38262746 deletion of <=200bp T - intron_variant BRCA-EU 6 38263674 38263674 single base substitution A G intron_variant BRCA-EU 6 38264332 38264332 deletion of <=200bp A - intron_variant BRCA-EU 6 38264564 38264564 single base substitution A T intron_variant BRCA-EU 6 38264739 38264739 single base substitution A T intron_variant BRCA-EU 6 38265097 38265097 single base substitution G A intron_variant BRCA-EU 6 38265102 38265102 single base substitution A G intron_variant BRCA-EU 6 38265506 38265506 single base substitution T C intron_variant BRCA-EU 6 38268614 38268614 single base substitution G C intron_variant BRCA-EU 6 38269728 38269728 single base substitution A T intron_variant BRCA-EU 6 38269903 38269903 single base substitution G A intron_variant BRCA-EU 6 38272338 38272338 single base substitution A C intron_variant BRCA-EU 6 38273056 38273056 single base substitution G A intron_variant BRCA-EU 6 38274014 38274014 single base substitution C G intron_variant BRCA-EU 6 38274668 38274668 single base substitution G A intron_variant BRCA-EU 6 38276922 38276922 single base substitution G A intron_variant BRCA-EU 6 38281005 38281005 single base substitution G A intron_variant BRCA-EU 6 38281846 38281846 single base substitution T C intron_variant BRCA-EU 6 38281921 38281921 single base substitution G A intron_variant BRCA-EU 6 38282195 38282195 deletion of <=200bp T - intron_variant BRCA-EU 6 38282343 38282343 single base substitution C G intron_variant BRCA-EU 6 38283078 38283078 single base substitution C G intron_variant BRCA-EU 6 38283087 38283087 single base substitution C T intron_variant BRCA-EU 6 38283629 38283629 single base substitution G A intron_variant BRCA-EU 6 38283636 38283636 single base substitution C G intron_variant BRCA-EU 6 38283968 38283968 single base substitution T C intron_variant BRCA-EU 6 38285202 38285202 deletion of <=200bp T - intron_variant BRCA-EU 6 38286660 38286660 single base substitution C T intron_variant BRCA-EU 6 38287581 38287581 single base substitution C T intron_variant BRCA-EU 6 38288867 38288867 single base substitution C G intron_variant BRCA-EU 6 38289788 38289788 single base substitution T C intron_variant BRCA-EU 6 38291085 38291085 single base substitution C T intron_variant BRCA-EU 6 38291195 38291195 single base substitution G T intron_variant BRCA-EU 6 38291377 38291377 single base substitution A G intron_variant BRCA-EU 6 38291768 38291768 single base substitution A G intron_variant BRCA-EU 6 38291922 38291922 single base substitution C T intron_variant BRCA-EU 6 38292774 38292774 single base substitution T C intron_variant BRCA-EU 6 38293333 38293333 single base substitution C T intron_variant BRCA-EU 6 38293905 38293907 deletion of <=200bp AGA - intron_variant BRCA-EU 6 38297741 38297741 single base substitution G A intron_variant BRCA-EU 6 38297953 38297953 single base substitution C G intron_variant BRCA-EU 6 38298340 38298340 deletion of <=200bp A - intron_variant BRCA-EU 6 38298381 38298381 single base substitution C G intron_variant BRCA-EU 6 38298816 38298816 single base substitution G A intron_variant BRCA-EU 6 38298940 38298940 single base substitution T C intron_variant BRCA-EU 6 38299785 38299785 single base substitution C T intron_variant BRCA-EU 6 38300152 38300152 single base substitution T C intron_variant BRCA-EU 6 38300203 38300203 single base substitution G A intron_variant BRCA-EU 6 38300442 38300442 single base substitution A C intron_variant BRCA-EU 6 38300461 38300461 single base substitution G A intron_variant BRCA-EU 6 38303376 38303376 single base substitution C G intron_variant BRCA-EU 6 38303719 38303719 single base substitution C A intron_variant BRCA-EU 6 38304117 38304117 single base substitution C A intron_variant BRCA-EU 6 38305119 38305119 single base substitution C G intron_variant BRCA-EU 6 38305304 38305304 single base substitution C A intron_variant BRCA-EU 6 38305594 38305594 single base substitution G A intron_variant BRCA-EU 6 38305674 38305674 single base substitution T C intron_variant BRCA-EU 6 38305840 38305840 single base substitution C T intron_variant BRCA-EU 6 38305876 38305876 single base substitution G A intron_variant BRCA-EU 6 38305952 38305952 single base substitution C G intron_variant BRCA-EU 6 38306071 38306071 single base substitution C A intron_variant BRCA-EU 6 38306074 38306074 single base substitution C T intron_variant BRCA-EU 6 38306119 38306119 single base substitution A G intron_variant BRCA-EU 6 38306506 38306506 single base substitution C G intron_variant BRCA-EU 6 38306646 38306646 single base substitution C G intron_variant BRCA-EU 6 38308082 38308082 single base substitution C G intron_variant BRCA-EU 6 38308344 38308344 single base substitution C T intron_variant BRCA-EU 6 38309201 38309201 single base substitution A T intron_variant BRCA-EU 6 38309455 38309455 single base substitution A G intron_variant BRCA-EU 6 38311328 38311328 single base substitution G C intron_variant BRCA-EU 6 38312215 38312215 single base substitution G A intron_variant BRCA-EU 6 38312684 38312688 deletion of <=200bp TAAGT - intron_variant BRCA-EU 6 38313600 38313600 single base substitution C T intron_variant BRCA-EU 6 38313886 38313886 single base substitution G A intron_variant BRCA-EU 6 38316381 38316381 single base substitution T C intron_variant BRCA-EU 6 38316508 38316508 single base substitution C T intron_variant BRCA-EU 6 38316654 38316654 single base substitution A G intron_variant BRCA-EU 6 38317029 38317029 single base substitution A G intron_variant BRCA-EU 6 38317073 38317073 single base substitution C G intron_variant BRCA-EU 6 38317710 38317710 single base substitution C A intron_variant BRCA-EU 6 38318163 38318163 single base substitution C A intron_variant BRCA-EU 6 38318443 38318443 single base substitution A C intron_variant BRCA-EU 6 38320405 38320405 single base substitution C A intron_variant BRCA-EU 6 38320597 38320597 single base substitution C T intron_variant BRCA-EU 6 38321528 38321528 single base substitution C T intron_variant BRCA-EU 6 38321896 38321896 single base substitution T C intron_variant BRCA-EU 6 38321997 38321997 single base substitution T A intron_variant BRCA-EU 6 38322599 38322599 single base substitution A G intron_variant BRCA-EU 6 38323196 38323196 deletion of <=200bp T - intron_variant BRCA-EU 6 38323870 38323870 deletion of <=200bp T - intron_variant BRCA-EU 6 38324298 38324298 single base substitution A G intron_variant BRCA-EU 6 38324783 38324783 single base substitution G A intron_variant BRCA-EU 6 38327057 38327057 single base substitution T C intron_variant BRCA-EU 6 38329753 38329753 single base substitution T C intron_variant BRCA-EU 6 38331911 38331911 deletion of <=200bp A - intron_variant BRCA-EU 6 38332489 38332489 single base substitution C G intron_variant BRCA-EU 6 38333030 38333030 single base substitution G A intron_variant BRCA-EU 6 38333110 38333110 single base substitution G T intron_variant BRCA-EU 6 38333782 38333782 single base substitution C G intron_variant BRCA-EU 6 38334557 38334557 single base substitution C G intron_variant BRCA-EU 6 38335422 38335422 single base substitution C G intron_variant BRCA-EU 6 38336128 38336128 single base substitution G A intron_variant BRCA-EU 6 38336551 38336551 single base substitution T A intron_variant BRCA-EU 6 38339534 38339534 single base substitution G T intron_variant BRCA-EU 6 38340683 38340683 single base substitution C G intron_variant BRCA-EU 6 38341825 38341825 single base substitution T C intron_variant BRCA-EU 6 38343126 38343126 single base substitution A G intron_variant BRCA-EU 6 38343190 38343190 single base substitution A G intron_variant BRCA-EU 6 38343557 38343557 single base substitution G A intron_variant BRCA-EU 6 38343768 38343768 single base substitution G A intron_variant BRCA-EU 6 38343958 38343958 single base substitution G T intron_variant BRCA-EU 6 38344907 38344907 single base substitution T C intron_variant BRCA-EU 6 38346231 38346231 single base substitution G A intron_variant BRCA-EU 6 38346598 38346598 single base substitution C T intron_variant BRCA-EU 6 38348314 38348314 single base substitution G C intron_variant BRCA-EU 6 38348457 38348457 single base substitution G C intron_variant BRCA-EU 6 38349298 38349298 deletion of <=200bp C - intron_variant BRCA-EU 6 38349912 38349912 single base substitution G A intron_variant BRCA-EU 6 38350223 38350223 single base substitution G A intron_variant BRCA-EU 6 38350936 38350936 single base substitution T C intron_variant BRCA-EU 6 38352380 38352380 single base substitution T A intron_variant BRCA-EU 6 38352434 38352434 single base substitution T A intron_variant BRCA-EU 6 38353664 38353664 single base substitution G A intron_variant BRCA-EU 6 38353952 38353952 single base substitution A G intron_variant BRCA-EU 6 38355547 38355547 single base substitution A G intron_variant BRCA-EU 6 38355634 38355634 single base substitution T C intron_variant BRCA-EU 6 38357910 38357910 single base substitution G C intron_variant BRCA-EU 6 38358233 38358233 single base substitution G C intron_variant BRCA-EU 6 38359239 38359239 single base substitution C T intron_variant BRCA-EU 6 38360836 38360836 single base substitution G C intron_variant BRCA-EU 6 38362117 38362117 single base substitution T C intron_variant BRCA-EU 6 38363053 38363053 single base substitution A T intron_variant BRCA-EU 6 38363226 38363226 single base substitution G A intron_variant BRCA-EU 6 38364301 38364301 single base substitution G A intron_variant BRCA-EU 6 38364829 38364829 single base substitution C T intron_variant BRCA-EU 6 38366580 38366580 single base substitution A G intron_variant BRCA-EU 6 38366879 38366879 single base substitution T C intron_variant BRCA-EU 6 38371451 38371451 single base substitution G A intron_variant BRCA-EU 6 38371719 38371719 single base substitution T C intron_variant BRCA-EU 6 38372204 38372204 single base substitution C T intron_variant BRCA-EU 6 38372276 38372276 single base substitution T G intron_variant BRCA-EU 6 38373757 38373757 single base substitution C T intron_variant BRCA-EU 6 38377679 38377679 single base substitution G C intron_variant BRCA-EU 6 38378262 38378262 deletion of <=200bp A - intron_variant BRCA-EU 6 38380095 38380095 single base substitution C T intron_variant BRCA-EU 6 38380235 38380235 single base substitution T C intron_variant BRCA-EU 6 38381262 38381262 single base substitution C T intron_variant BRCA-EU 6 38382250 38382250 deletion of <=200bp T - intron_variant BRCA-EU 6 38382587 38382587 single base substitution G C intron_variant BRCA-EU 6 38383178 38383178 single base substitution C G intron_variant BRCA-EU 6 38384690 38384690 single base substitution G A intron_variant BRCA-EU 6 38388630 38388630 single base substitution C G intron_variant BRCA-EU 6 38388991 38388991 single base substitution G C intron_variant BRCA-EU 6 38389574 38389574 single base substitution G A intron_variant BRCA-EU 6 38392258 38392258 single base substitution G A intron_variant BRCA-EU 6 38392925 38392925 single base substitution G A intron_variant BRCA-EU 6 38394387 38394387 single base substitution C A intron_variant BRCA-EU 6 38395311 38395311 single base substitution C G intron_variant BRCA-EU 6 38395569 38395569 single base substitution C G intron_variant BRCA-EU 6 38396197 38396197 single base substitution C T intron_variant BRCA-EU 6 38396512 38396512 single base substitution G A intron_variant BRCA-EU 6 38398301 38398301 single base substitution T A intron_variant BRCA-EU 6 38398411 38398411 single base substitution C T intron_variant BRCA-EU 6 38399210 38399210 single base substitution C T intron_variant BRCA-EU 6 38399972 38399972 single base substitution C A intron_variant BRCA-EU 6 38400209 38400209 single base substitution T G intron_variant BRCA-EU 6 38400683 38400683 single base substitution C T intron_variant BRCA-EU 6 38401752 38401752 single base substitution A T intron_variant BRCA-EU 6 38402083 38402083 single base substitution G A intron_variant BRCA-EU 6 38402207 38402207 single base substitution C A intron_variant BRCA-EU 6 38402341 38402341 single base substitution A G intron_variant BRCA-EU 6 38402576 38402576 single base substitution G C intron_variant BRCA-EU 6 38402708 38402708 single base substitution C T intron_variant BRCA-EU 6 38405192 38405192 single base substitution G A intron_variant BRCA-EU 6 38405867 38405867 single base substitution C T intron_variant BRCA-EU 6 38407136 38407136 single base substitution T G intron_variant BRCA-EU 6 38407879 38407879 single base substitution C T intron_variant BRCA-EU 6 38410029 38410029 single base substitution C T intron_variant BRCA-EU 6 38410500 38410500 single base substitution C T intron_variant BRCA-EU 6 38413042 38413042 single base substitution G T intron_variant BRCA-EU 6 38413084 38413084 single base substitution G C intron_variant BRCA-EU 6 38416367 38416367 single base substitution C T intron_variant BRCA-EU 6 38416639 38416639 single base substitution C T intron_variant BRCA-EU 6 38417751 38417751 single base substitution T A intron_variant BRCA-EU 6 38418151 38418151 single base substitution T A intron_variant BRCA-EU 6 38419173 38419173 single base substitution C T intron_variant BRCA-EU 6 38420548 38420548 single base substitution T G intron_variant BRCA-EU 6 38421533 38421533 single base substitution T A intron_variant BRCA-EU 6 38422546 38422546 single base substitution C T intron_variant BRCA-EU 6 38422709 38422709 single base substitution C A intron_variant BRCA-EU 6 38423341 38423341 single base substitution T A intron_variant BRCA-EU 6 38423605 38423605 single base substitution C A intron_variant BRCA-EU 6 38423639 38423639 single base substitution G C intron_variant BRCA-EU 6 38423642 38423642 single base substitution G T intron_variant BRCA-EU 6 38423763 38423763 single base substitution T C intron_variant BRCA-EU 6 38424619 38424619 single base substitution G C intron_variant BRCA-EU 6 38424723 38424723 single base substitution G A intron_variant BRCA-EU 6 38425511 38425511 single base substitution G C intron_variant BRCA-EU 6 38427973 38427973 single base substitution A G intron_variant BRCA-EU 6 38428177 38428177 single base substitution A T intron_variant BRCA-EU 6 38428197 38428197 single base substitution G A intron_variant BRCA-EU 6 38428272 38428272 insertion of <=200bp - AC intron_variant BRCA-EU 6 38429160 38429160 single base substitution G C intron_variant BRCA-EU 6 38430641 38430641 single base substitution C T intron_variant BRCA-EU 6 38431072 38431072 single base substitution C T intron_variant BRCA-EU 6 38431087 38431087 single base substitution T C intron_variant BRCA-EU 6 38431781 38431781 single base substitution C G intron_variant BRCA-EU 6 38431822 38431822 single base substitution G C intron_variant BRCA-EU 6 38431880 38431880 single base substitution G A intron_variant BRCA-EU 6 38432428 38432428 single base substitution C T intron_variant BRCA-EU 6 38434257 38434257 single base substitution C A intron_variant BRCA-EU 6 38434366 38434366 single base substitution G A intron_variant BRCA-EU 6 38436440 38436440 single base substitution G C intron_variant BRCA-EU 6 38436668 38436668 single base substitution C T intron_variant BRCA-EU 6 38436811 38436811 single base substitution C G intron_variant BRCA-EU 6 38437338 38437338 single base substitution C T intron_variant BRCA-EU 6 38437386 38437386 single base substitution C T intron_variant BRCA-EU 6 38437761 38437761 single base substitution T C intron_variant BRCA-EU 6 38438511 38438511 single base substitution A C intron_variant BRCA-EU 6 38438563 38438578 deletion of <=200bp AGAAGAGAGGAGCATT - intron_variant BRCA-EU 6 38438775 38438775 single base substitution G C intron_variant BRCA-EU 6 38438823 38438823 single base substitution C T intron_variant BRCA-EU 6 38439116 38439116 single base substitution C G intron_variant BRCA-EU 6 38440281 38440281 single base substitution C T intron_variant BRCA-EU 6 38442620 38442806 deletion of <=200bp CAAACTCAACTGCCACATTAAACTCCAAATGAAAGTAAAGTATACTTTTAAAAAATCTCAATCAGATAAATAAGCAAAAATTTATATACAAGAATATTCATCAGAGCGTTATTTACAACAGCAAAACAGAAACTATATGTGCTTCAATATAGGAAAAGTCAAATTATGGTACCTCTATATAATGAAA - intron_variant BRCA-EU 6 38442936 38442936 single base substitution T C intron_variant BRCA-EU 6 38443074 38443074 single base substitution T A intron_variant BRCA-EU 6 38443107 38443107 deletion of <=200bp A - intron_variant BRCA-EU 6 38443348 38443348 single base substitution C G intron_variant BRCA-EU 6 38443763 38443763 single base substitution C T intron_variant BRCA-EU 6 38446216 38446216 single base substitution G C intron_variant BRCA-EU 6 38449901 38449901 single base substitution T C intron_variant BRCA-EU 6 38450788 38450788 single base substitution C T intron_variant BRCA-EU 6 38454411 38454411 single base substitution T G intron_variant BRCA-EU 6 38454859 38454859 single base substitution A G intron_variant BRCA-EU 6 38458559 38458567 deletion of <=200bp CTTGCAGCC - intron_variant BRCA-EU 6 38458891 38458891 single base substitution G T intron_variant BRCA-EU 6 38461743 38461743 single base substitution A G intron_variant BRCA-EU 6 38461926 38461926 single base substitution T G intron_variant BRCA-EU 6 38462529 38462529 single base substitution T A intron_variant BRCA-EU 6 38462810 38462810 deletion of <=200bp T - intron_variant BRCA-EU 6 38463831 38463831 single base substitution G A intron_variant BRCA-EU 6 38463864 38463864 single base substitution C T intron_variant BRCA-EU 6 38465108 38465108 single base substitution T G intron_variant BRCA-EU 6 38465426 38465426 single base substitution G T intron_variant BRCA-EU 6 38465619 38465619 single base substitution G A intron_variant BRCA-EU 6 38467987 38467987 single base substitution T C intron_variant BRCA-EU 6 38468012 38468012 deletion of <=200bp G - intron_variant BRCA-EU 6 38469735 38469735 single base substitution G T intron_variant BRCA-EU 6 38469746 38469746 single base substitution C G intron_variant BRCA-EU 6 38469878 38469878 single base substitution G A intron_variant BRCA-EU 6 38470424 38470424 single base substitution G C intron_variant BRCA-EU 6 38472401 38472401 single base substitution T G intron_variant BRCA-EU 6 38472760 38472760 single base substitution A G intron_variant BRCA-EU 6 38473143 38473143 single base substitution G C intron_variant BRCA-EU 6 38473222 38473222 single base substitution G A intron_variant BRCA-EU 6 38473260 38473260 single base substitution C T intron_variant BRCA-EU 6 38473647 38473647 single base substitution G A intron_variant BRCA-EU 6 38474044 38474044 single base substitution C G intron_variant BRCA-EU 6 38475267 38475267 single base substitution C T intron_variant BRCA-EU 6 38475397 38475397 single base substitution C G intron_variant BRCA-EU 6 38475567 38475567 single base substitution G C intron_variant BRCA-EU 6 38475903 38475903 single base substitution C T intron_variant BRCA-EU 6 38477421 38477421 deletion of <=200bp A - intron_variant BRCA-EU 6 38477566 38477566 single base substitution G A intron_variant BRCA-EU 6 38477786 38477786 single base substitution T C intron_variant BRCA-EU 6 38477816 38477816 insertion of <=200bp - A intron_variant BRCA-EU 6 38478353 38478353 single base substitution C A intron_variant BRCA-EU 6 38478604 38478604 single base substitution C T intron_variant BRCA-EU 6 38478722 38478722 single base substitution G C intron_variant BRCA-EU 6 38479382 38479382 single base substitution T C intron_variant BRCA-EU 6 38479968 38479968 single base substitution C G intron_variant BRCA-EU 6 38482412 38482412 single base substitution T C intron_variant BRCA-EU 6 38482436 38482439 deletion of <=200bp AAAT - intron_variant BRCA-EU 6 38482545 38482545 single base substitution G C intron_variant BRCA-EU 6 38483695 38483695 single base substitution G T intron_variant BRCA-EU 6 38484659 38484659 single base substitution G A intron_variant BRCA-EU 6 38484876 38484876 single base substitution T C intron_variant BRCA-EU 6 38485105 38485105 single base substitution A G intron_variant BRCA-EU 6 38485259 38485259 single base substitution C T intron_variant BRCA-EU 6 38486272 38486272 single base substitution C T intron_variant BRCA-EU 6 38486888 38486888 single base substitution A C intron_variant BRCA-EU 6 38488193 38488193 single base substitution C A intron_variant BRCA-EU 6 38492285 38492285 single base substitution C G intron_variant BRCA-EU 6 38493428 38493428 single base substitution A C intron_variant BRCA-EU 6 38495318 38495318 single base substitution C T intron_variant BRCA-EU 6 38495711 38495711 deletion of <=200bp A - intron_variant BRCA-EU 6 38496923 38496923 single base substitution G T intron_variant BRCA-EU 6 38498928 38498928 single base substitution G C intron_variant BRCA-EU 6 38499153 38499153 single base substitution C A intron_variant BRCA-EU 6 38499868 38499870 deletion of <=200bp GTG - intron_variant BRCA-EU 6 38500255 38500255 single base substitution C G intron_variant BRCA-EU 6 38501894 38501894 single base substitution T G intron_variant BRCA-EU 6 38502609 38502609 single base substitution G C intron_variant BRCA-EU 6 38503965 38503965 single base substitution G T intron_variant BRCA-EU 6 38504363 38504363 single base substitution C G intron_variant BRCA-EU 6 38505060 38505060 single base substitution T C intron_variant BRCA-EU 6 38505167 38505167 single base substitution G A intron_variant BRCA-EU 6 38505258 38505258 single base substitution C G intron_variant BRCA-EU 6 38505260 38505260 single base substitution A T intron_variant BRCA-EU 6 38505262 38505262 single base substitution T C intron_variant BRCA-EU 6 38505548 38505548 single base substitution C G intron_variant BRCA-EU 6 38508527 38508527 single base substitution G C intron_variant BRCA-EU 6 38508752 38508752 single base substitution A T intron_variant BRCA-EU 6 38508764 38508764 single base substitution C G intron_variant BRCA-EU 6 38509424 38509424 single base substitution G C intron_variant BRCA-EU 6 38510674 38510674 single base substitution C T intron_variant BRCA-EU 6 38511268 38511268 single base substitution G C intron_variant BRCA-EU 6 38512430 38512430 single base substitution C T intron_variant BRCA-EU 6 38512773 38512773 single base substitution G A intron_variant BRCA-EU 6 38512828 38512828 single base substitution G A intron_variant BRCA-EU 6 38513347 38513347 single base substitution A G intron_variant BRCA-EU 6 38514965 38514965 single base substitution A C intron_variant BRCA-EU 6 38516067 38516067 single base substitution C T intron_variant BRCA-EU 6 38517791 38517791 single base substitution C G intron_variant BRCA-EU 6 38517998 38517998 single base substitution C T intron_variant BRCA-EU 6 38518278 38518278 single base substitution G C intron_variant BRCA-EU 6 38518516 38518516 single base substitution C G intron_variant BRCA-EU 6 38519990 38519990 single base substitution C T intron_variant BRCA-EU 6 38520456 38520456 single base substitution T C intron_variant BRCA-EU 6 38520640 38520640 single base substitution C A intron_variant BRCA-EU 6 38522407 38522407 single base substitution G C intron_variant BRCA-EU 6 38522410 38522410 single base substitution T G intron_variant BRCA-EU 6 38524410 38524410 deletion of <=200bp T - intron_variant BRCA-EU 6 38524679 38524679 single base substitution C T intron_variant BRCA-EU 6 38525747 38525747 single base substitution T C intron_variant BRCA-EU 6 38525759 38525759 single base substitution C T intron_variant BRCA-EU 6 38526866 38526866 single base substitution C T intron_variant BRCA-EU 6 38529197 38529197 single base substitution C G intron_variant BRCA-EU 6 38529569 38529569 deletion of <=200bp G - intron_variant BRCA-EU 6 38529932 38529932 single base substitution C T intron_variant BRCA-EU 6 38530840 38530840 single base substitution G A intron_variant BRCA-EU 6 38532244 38532244 single base substitution A T intron_variant BRCA-EU 6 38535293 38535293 single base substitution C T intron_variant BRCA-EU 6 38535390 38535390 single base substitution G T intron_variant BRCA-EU 6 38535512 38535512 single base substitution C A intron_variant BRCA-EU 6 38535668 38535668 deletion of <=200bp A - intron_variant BRCA-EU 6 38535930 38535930 single base substitution G A intron_variant BRCA-EU 6 38537114 38537114 single base substitution G A intron_variant BRCA-EU 6 38538085 38538085 single base substitution G C intron_variant BRCA-EU 6 38539111 38539111 single base substitution A C intron_variant BRCA-EU 6 38539966 38539966 single base substitution T C intron_variant BRCA-EU 6 38540607 38540607 single base substitution T G intron_variant BRCA-EU 6 38540758 38540758 single base substitution C T intron_variant BRCA-EU 6 38540777 38540778 deletion of <=200bp AT - intron_variant BRCA-EU 6 38540811 38540811 single base substitution A G intron_variant BRCA-EU 6 38541439 38541439 single base substitution A G intron_variant BRCA-EU 6 38542171 38542171 single base substitution T A intron_variant BRCA-EU 6 38542867 38542867 single base substitution A G intron_variant BRCA-EU 6 38543758 38543758 single base substitution C G intron_variant BRCA-EU 6 38544213 38544213 single base substitution C T intron_variant BRCA-EU 6 38544302 38544302 single base substitution T A intron_variant BRCA-EU 6 38544754 38544754 single base substitution C A intron_variant BRCA-EU 6 38544939 38544939 single base substitution G A intron_variant BRCA-EU 6 38545487 38545487 deletion of <=200bp G - exon_variant BRCA-EU 6 38545487 38545487 deletion of <=200bp G - frameshift_variant S280 BRCA-EU 6 38545487 38545487 deletion of <=200bp G - frameshift_variant S289 BRCA-EU 6 38545487 38545487 deletion of <=200bp G - frameshift_variant S348 BRCA-EU 6 38546452 38546452 single base substitution C T intron_variant BRCA-EU 6 38546897 38546897 single base substitution G A intron_variant BRCA-EU 6 38547252 38547252 single base substitution A G intron_variant BRCA-EU 6 38548016 38548016 single base substitution G C exon_variant BRCA-EU 6 38548016 38548016 single base substitution G C missense_variant L270V 808C>G BRCA-EU 6 38548016 38548016 single base substitution G C missense_variant L279V 835C>G BRCA-EU 6 38548016 38548016 single base substitution G C missense_variant L338V 1012C>G BRCA-EU 6 38548639 38548639 single base substitution C T intron_variant BRCA-EU 6 38549313 38549313 single base substitution G A intron_variant BRCA-EU 6 38549731 38549731 single base substitution C T intron_variant BRCA-EU 6 38550894 38550894 single base substitution C G intron_variant BRCA-EU 6 38552385 38552385 single base substitution G T intron_variant BRCA-EU 6 38552392 38552392 single base substitution G T intron_variant BRCA-EU 6 38553416 38553416 single base substitution T G intron_variant BRCA-EU 6 38553799 38553799 single base substitution G A intron_variant BRCA-EU 6 38554565 38554565 single base substitution G A intron_variant BRCA-EU 6 38556129 38556129 single base substitution C G intron_variant BRCA-EU 6 38557908 38557908 single base substitution G C downstream_gene_variant BRCA-EU 6 38557908 38557908 single base substitution G C intron_variant BRCA-EU 6 38559745 38559745 single base substitution G T downstream_gene_variant BRCA-EU 6 38559745 38559745 single base substitution G T intron_variant BRCA-EU 6 38560222 38560222 single base substitution G C downstream_gene_variant BRCA-EU 6 38560222 38560222 single base substitution G C intron_variant BRCA-EU 6 38560254 38560254 single base substitution A G downstream_gene_variant BRCA-EU 6 38560254 38560254 single base substitution A G intron_variant BRCA-EU 6 38560451 38560451 single base substitution C T downstream_gene_variant BRCA-EU 6 38560451 38560451 single base substitution C T exon_variant BRCA-EU 6 38560451 38560451 single base substitution C T missense_variant V171M 511G>A BRCA-EU 6 38560451 38560451 single base substitution C T missense_variant V180M 538G>A BRCA-EU 6 38560451 38560451 single base substitution C T missense_variant V239M 715G>A BRCA-EU 6 38561147 38561147 single base substitution C T downstream_gene_variant BRCA-EU 6 38561147 38561147 single base substitution C T intron_variant BRCA-EU 6 38562078 38562078 single base substitution C G exon_variant BRCA-EU 6 38562078 38562078 single base substitution C G missense_variant E12Q 34G>C BRCA-EU 6 38562078 38562078 single base substitution C G missense_variant E3Q 7G>C BRCA-EU 6 38562078 38562078 single base substitution C G missense_variant E71Q 211G>C BRCA-EU 6 38563051 38563051 single base substitution G C intron_variant BRCA-EU 6 38563051 38563051 single base substitution G C upstream_gene_variant BRCA-EU 6 38563105 38563105 single base substitution G A intron_variant BRCA-EU 6 38563105 38563105 single base substitution G A upstream_gene_variant BRCA-EU 6 38563110 38563110 single base substitution G A intron_variant BRCA-EU 6 38563110 38563110 single base substitution G A upstream_gene_variant BRCA-EU 6 38563128 38563128 deletion of <=200bp T - intron_variant BRCA-EU 6 38563128 38563128 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 38564183 38564183 single base substitution G C intron_variant BRCA-EU 6 38564183 38564183 single base substitution G C upstream_gene_variant BRCA-EU 6 38564800 38564800 single base substitution G A intron_variant BRCA-EU 6 38564800 38564800 single base substitution G A upstream_gene_variant BRCA-EU 6 38564878 38564878 single base substitution A T intron_variant BRCA-EU 6 38564878 38564878 single base substitution A T upstream_gene_variant BRCA-EU 6 38565151 38565151 single base substitution G A intron_variant BRCA-EU 6 38565151 38565151 single base substitution G A upstream_gene_variant BRCA-EU 6 38565270 38565270 single base substitution G A intron_variant BRCA-EU 6 38565270 38565270 single base substitution G A upstream_gene_variant BRCA-EU 6 38566465 38566465 single base substitution G C intron_variant BRCA-EU 6 38566465 38566465 single base substitution G C upstream_gene_variant BRCA-EU 6 38566694 38566694 deletion of <=200bp A - intron_variant BRCA-EU 6 38566694 38566694 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 38566699 38566699 single base substitution A T intron_variant BRCA-EU 6 38566699 38566699 single base substitution A T upstream_gene_variant BRCA-EU 6 38568775 38568775 single base substitution T C intron_variant BRCA-EU 6 38568775 38568775 single base substitution T C upstream_gene_variant BRCA-EU 6 38569243 38569243 single base substitution G T intron_variant BRCA-EU 6 38569243 38569243 single base substitution G T upstream_gene_variant BRCA-EU 6 38571378 38571378 deletion of <=200bp T - intron_variant BRCA-EU 6 38572405 38572405 single base substitution G C intron_variant BRCA-EU 6 38572485 38572485 single base substitution G A intron_variant BRCA-EU 6 38573011 38573011 single base substitution C A intron_variant BRCA-EU 6 38573730 38573730 single base substitution G C intron_variant BRCA-EU 6 38575995 38575995 single base substitution C G intron_variant BRCA-EU 6 38578273 38578273 single base substitution C G intron_variant BRCA-EU 6 38578694 38578694 deletion of <=200bp G - intron_variant BRCA-EU 6 38580094 38580094 single base substitution T A intron_variant BRCA-EU 6 38580850 38580850 deletion of <=200bp A - intron_variant BRCA-EU 6 38581063 38581063 single base substitution T A intron_variant BRCA-EU 6 38581358 38581358 single base substitution C T intron_variant BRCA-EU 6 38582172 38582172 single base substitution C T intron_variant BRCA-EU 6 38582215 38582215 single base substitution C T intron_variant BRCA-EU 6 38582917 38582917 single base substitution C A intron_variant BRCA-EU 6 38583129 38583129 single base substitution A G intron_variant BRCA-EU 6 38583235 38583235 single base substitution A T intron_variant BRCA-EU 6 38583398 38583398 single base substitution G C intron_variant BRCA-EU 6 38583672 38583672 single base substitution T C intron_variant BRCA-EU 6 38584247 38584247 single base substitution A G intron_variant BRCA-EU 6 38587258 38587258 single base substitution G C intron_variant BRCA-EU 6 38587665 38587665 single base substitution G A intron_variant BRCA-EU 6 38587962 38587962 single base substitution C T intron_variant BRCA-EU 6 38588076 38588076 single base substitution G A intron_variant BRCA-EU 6 38588518 38588518 single base substitution G A intron_variant BRCA-EU 6 38590318 38590318 single base substitution G C intron_variant BRCA-EU 6 38592975 38592975 single base substitution T A intron_variant BRCA-EU 6 38594022 38594022 single base substitution A T intron_variant BRCA-EU 6 38594671 38594671 single base substitution C T intron_variant BRCA-EU 6 38595463 38595463 single base substitution C A intron_variant BRCA-EU 6 38595510 38595510 single base substitution G T intron_variant BRCA-EU 6 38595514 38595514 insertion of <=200bp - T intron_variant BRCA-EU 6 38595655 38595655 single base substitution G T intron_variant BRCA-EU 6 38595884 38595884 single base substitution A G intron_variant BRCA-EU 6 38597614 38597614 single base substitution A T intron_variant BRCA-EU 6 38598844 38598844 single base substitution T A intron_variant BRCA-EU 6 38600091 38600091 single base substitution G A intron_variant BRCA-EU 6 38600524 38600524 single base substitution C G intron_variant BRCA-EU 6 38600561 38600561 single base substitution A C intron_variant BRCA-EU 6 38602353 38602353 single base substitution A T intron_variant BRCA-EU 6 38602397 38602397 single base substitution C G intron_variant BRCA-EU 6 38602430 38602430 single base substitution T C intron_variant BRCA-EU 6 38602603 38602603 single base substitution C G intron_variant BRCA-EU 6 38603409 38603409 single base substitution C G intron_variant BRCA-EU 6 38604162 38604162 single base substitution G A intron_variant BRCA-EU 6 38605360 38605360 single base substitution G C intron_variant BRCA-EU 6 38605760 38605760 single base substitution C G intron_variant BRCA-EU 6 38606483 38606483 single base substitution C G intron_variant BRCA-EU 6 38606798 38606798 single base substitution G C intron_variant BRCA-EU 6 38607044 38607044 single base substitution T A intron_variant BRCA-EU 6 38607843 38607843 single base substitution G C 5_prime_UTR_variant BRCA-EU 6 38607843 38607843 single base substitution G C upstream_gene_variant BRCA-EU 6 38607948 38607948 single base substitution C T upstream_gene_variant BRCA-EU 6 38608360 38608360 single base substitution G A upstream_gene_variant BRCA-EU 6 38608466 38608466 single base substitution C T upstream_gene_variant BRCA-EU 6 38609045 38609045 single base substitution A C upstream_gene_variant BRCA-EU 6 38609644 38609644 single base substitution G A upstream_gene_variant BRCA-EU 6 38609971 38609971 single base substitution A C upstream_gene_variant BRCA-EU 6 38610323 38610323 single base substitution A G upstream_gene_variant BRCA-EU 6 38610538 38610538 single base substitution G C upstream_gene_variant BRCA-EU 6 38611065 38611065 insertion of <=200bp - GA upstream_gene_variant BRCA-EU 6 38612397 38612397 single base substitution A G upstream_gene_variant BRCA-EU 6 38612467 38612467 single base substitution G C upstream_gene_variant BRCA-FR 6 38136982 38136982 single base substitution C T 3_prime_UTR_variant BRCA-FR 6 38138780 38138780 single base substitution C A 3_prime_UTR_variant BRCA-FR 6 38138780 38138780 single base substitution C A downstream_gene_variant BRCA-FR 6 38140208 38140208 single base substitution G A 3_prime_UTR_variant BRCA-FR 6 38140208 38140208 single base substitution G A downstream_gene_variant BRCA-FR 6 38144775 38144775 single base substitution G A intron_variant BRCA-FR 6 38149621 38149621 single base substitution A T intron_variant BRCA-FR 6 38156589 38156589 single base substitution G C intron_variant BRCA-FR 6 38169538 38169538 single base substitution C T intron_variant BRCA-FR 6 38171426 38171426 single base substitution G A intron_variant BRCA-FR 6 38188336 38188336 single base substitution G A intron_variant BRCA-FR 6 38201050 38201050 single base substitution T C intron_variant BRCA-FR 6 38222269 38222269 single base substitution T A intron_variant BRCA-FR 6 38229886 38229886 single base substitution C G intron_variant BRCA-FR 6 38244075 38244075 single base substitution T G intron_variant BRCA-FR 6 38249926 38249926 single base substitution C G intron_variant BRCA-FR 6 38268614 38268614 single base substitution G C intron_variant BRCA-FR 6 38269728 38269728 single base substitution A T intron_variant BRCA-FR 6 38273056 38273056 single base substitution G A intron_variant BRCA-FR 6 38282343 38282343 single base substitution C G intron_variant BRCA-FR 6 38286660 38286660 single base substitution C T intron_variant BRCA-FR 6 38291085 38291085 single base substitution C T intron_variant BRCA-FR 6 38300152 38300152 single base substitution T C intron_variant BRCA-FR 6 38305594 38305594 single base substitution G A intron_variant BRCA-FR 6 38311328 38311328 single base substitution G C intron_variant BRCA-FR 6 38321997 38321997 single base substitution T A intron_variant BRCA-FR 6 38350223 38350223 single base substitution G A intron_variant BRCA-FR 6 38356296 38356296 single base substitution G A intron_variant BRCA-FR 6 38360796 38360796 single base substitution G T intron_variant BRCA-FR 6 38363226 38363226 single base substitution G A intron_variant BRCA-FR 6 38364206 38364206 single base substitution G A intron_variant BRCA-FR 6 38364301 38364301 single base substitution G A intron_variant BRCA-FR 6 38377679 38377679 single base substitution G C intron_variant BRCA-FR 6 38389574 38389574 single base substitution G A intron_variant BRCA-FR 6 38392258 38392258 single base substitution G A intron_variant BRCA-FR 6 38401968 38401968 single base substitution C G intron_variant BRCA-FR 6 38405192 38405192 single base substitution G A intron_variant BRCA-FR 6 38413084 38413084 single base substitution G C intron_variant BRCA-FR 6 38417353 38417353 single base substitution G A intron_variant BRCA-FR 6 38422709 38422709 single base substitution C A intron_variant BRCA-FR 6 38423605 38423605 single base substitution C A intron_variant BRCA-FR 6 38425511 38425511 single base substitution G C intron_variant BRCA-FR 6 38434366 38434366 single base substitution G A intron_variant BRCA-FR 6 38436811 38436811 single base substitution C G intron_variant BRCA-FR 6 38438823 38438823 single base substitution C T intron_variant BRCA-FR 6 38462823 38462823 single base substitution C T intron_variant BRCA-FR 6 38465313 38465313 single base substitution C T intron_variant BRCA-FR 6 38470329 38470329 single base substitution C A intron_variant BRCA-FR 6 38475903 38475903 single base substitution C T intron_variant BRCA-FR 6 38477718 38477718 single base substitution C T intron_variant BRCA-FR 6 38504505 38504505 single base substitution C G intron_variant BRCA-FR 6 38505258 38505258 single base substitution C G intron_variant BRCA-FR 6 38528360 38528360 single base substitution T A intron_variant BRCA-FR 6 38535422 38535422 single base substitution C G intron_variant BRCA-FR 6 38535930 38535930 single base substitution G A intron_variant BRCA-FR 6 38538085 38538085 single base substitution G C intron_variant BRCA-FR 6 38539966 38539966 single base substitution T C intron_variant BRCA-FR 6 38546452 38546452 single base substitution C T intron_variant BRCA-FR 6 38552017 38552017 single base substitution T A intron_variant BRCA-FR 6 38561147 38561147 single base substitution C T downstream_gene_variant BRCA-FR 6 38561147 38561147 single base substitution C T intron_variant BRCA-FR 6 38563110 38563110 single base substitution G A intron_variant BRCA-FR 6 38563110 38563110 single base substitution G A upstream_gene_variant BRCA-FR 6 38575716 38575716 single base substitution A G intron_variant BRCA-FR 6 38588518 38588518 single base substitution G A intron_variant BRCA-FR 6 38590318 38590318 single base substitution G C intron_variant BRCA-FR 6 38595655 38595655 single base substitution G T intron_variant BRCA-FR 6 38603409 38603409 single base substitution C G intron_variant BRCA-FR 6 38605360 38605360 single base substitution G C intron_variant BRCA-FR 6 38607948 38607948 single base substitution C T upstream_gene_variant BRCA-FR 6 38608086 38608086 single base substitution G C upstream_gene_variant BRCA-FR 6 38608466 38608466 single base substitution C T upstream_gene_variant BRCA-FR 6 38612467 38612467 single base substitution G C upstream_gene_variant BRCA-UK 6 38133009 38133009 single base substitution C T downstream_gene_variant BRCA-UK 6 38177325 38177325 single base substitution C G intron_variant BRCA-UK 6 38186675 38186675 single base substitution C G intron_variant BRCA-UK 6 38228961 38228961 single base substitution C G intron_variant BRCA-UK 6 38237714 38237714 single base substitution C T intron_variant BRCA-UK 6 38250393 38250393 single base substitution C T intron_variant BRCA-UK 6 38255819 38255841 deletion of <=200bp AGTTCCTCCATGAGTCTAACTTC - intron_variant BRCA-UK 6 38256340 38256340 single base substitution G C intron_variant BRCA-UK 6 38262145 38262145 single base substitution A G intron_variant BRCA-UK 6 38264564 38264564 single base substitution A T intron_variant BRCA-UK 6 38284957 38284957 single base substitution G A intron_variant BRCA-UK 6 38324783 38324783 single base substitution G A intron_variant BRCA-UK 6 38352380 38352380 single base substitution T A intron_variant BRCA-UK 6 38388630 38388630 single base substitution C G intron_variant BRCA-UK 6 38399972 38399972 single base substitution C A intron_variant BRCA-UK 6 38402708 38402708 single base substitution C T intron_variant BRCA-UK 6 38407836 38407836 deletion of <=200bp G - intron_variant BRCA-UK 6 38420548 38420548 single base substitution T G intron_variant BRCA-UK 6 38431303 38431303 single base substitution C T intron_variant BRCA-UK 6 38444464 38444464 single base substitution G A intron_variant BRCA-UK 6 38465426 38465426 single base substitution G T intron_variant BRCA-UK 6 38472760 38472760 single base substitution A G intron_variant BRCA-UK 6 38492285 38492285 single base substitution C G intron_variant BRCA-UK 6 38508764 38508764 single base substitution C G intron_variant BRCA-UK 6 38510674 38510674 single base substitution C T intron_variant BRCA-UK 6 38526866 38526866 single base substitution C T intron_variant BRCA-UK 6 38537114 38537114 single base substitution G A intron_variant BRCA-UK 6 38542047 38542047 single base substitution G A intron_variant BRCA-UK 6 38566465 38566465 single base substitution G C intron_variant BRCA-UK 6 38566465 38566465 single base substitution G C upstream_gene_variant BRCA-UK 6 38581063 38581063 single base substitution T A intron_variant BRCA-UK 6 38598894 38598894 single base substitution C A intron_variant BRCA-US 6 38548069 38548069 single base substitution G A exon_variant BRCA-US 6 38548069 38548069 single base substitution G A missense_variant S252F 755C>T BRCA-US 6 38548069 38548069 single base substitution G A missense_variant S261F 782C>T BRCA-US 6 38548069 38548069 single base substitution G A missense_variant S320F 959C>T BRCA-US 6 38562052 38562052 single base substitution A G exon_variant BRCA-US 6 38562052 38562052 single base substitution A G synonymous_variant P11P 33T>C BRCA-US 6 38562052 38562052 single base substitution A G synonymous_variant P20P 60T>C BRCA-US 6 38562052 38562052 single base substitution A G synonymous_variant P79P 237T>C BTCA-JP 6 38142839 38142839 single base substitution C T 3_prime_UTR_variant BTCA-JP 6 38142839 38142839 single base substitution C T synonymous_variant A519A 1557G>A BTCA-JP 6 38142839 38142839 single base substitution C T synonymous_variant A557A 1671G>A BTCA-JP 6 38142839 38142839 single base substitution C T synonymous_variant A587A 1761G>A BTCA-JP 6 38455435 38455435 single base substitution G A intron_variant BTCA-JP 6 38472140 38472140 single base substitution G T intron_variant BTCA-JP 6 38560444 38560444 single base substitution G A downstream_gene_variant BTCA-JP 6 38560444 38560444 single base substitution G A exon_variant BTCA-JP 6 38560444 38560444 single base substitution G A missense_variant P173L 518C>T BTCA-JP 6 38560444 38560444 single base substitution G A missense_variant P182L 545C>T BTCA-JP 6 38560444 38560444 single base substitution G A missense_variant P241L 722C>T BTCA-JP 6 38560562 38560562 single base substitution T C downstream_gene_variant BTCA-JP 6 38560562 38560562 single base substitution T C exon_variant BTCA-JP 6 38560562 38560562 single base substitution T C missense_variant I134V 400A>G BTCA-JP 6 38560562 38560562 single base substitution T C missense_variant I143V 427A>G BTCA-JP 6 38560562 38560562 single base substitution T C missense_variant I202V 604A>G CESC-US 6 38548046 38548046 single base substitution G C exon_variant CESC-US 6 38548046 38548046 single base substitution G C missense_variant Q260E 778C>G CESC-US 6 38548046 38548046 single base substitution G C missense_variant Q269E 805C>G CESC-US 6 38548046 38548046 single base substitution G C missense_variant Q328E 982C>G CESC-US 6 38548069 38548069 single base substitution G A exon_variant CESC-US 6 38548069 38548069 single base substitution G A missense_variant S252F 755C>T CESC-US 6 38548069 38548069 single base substitution G A missense_variant S261F 782C>T CESC-US 6 38548069 38548069 single base substitution G A missense_variant S320F 959C>T CESC-US 6 38560593 38560593 single base substitution T C downstream_gene_variant CESC-US 6 38560593 38560593 single base substitution T C exon_variant CESC-US 6 38560593 38560593 single base substitution T C synonymous_variant L123L 369A>G CESC-US 6 38560593 38560593 single base substitution T C synonymous_variant L132L 396A>G CESC-US 6 38560593 38560593 single base substitution T C synonymous_variant L191L 573A>G CESC-US 6 38562104 38562104 single base substitution C T missense_variant R3K 8G>A CESC-US 6 38562104 38562104 single base substitution C T splice_acceptor_variant CESC-US 6 38562104 38562104 single base substitution C T upstream_gene_variant CLLE-ES 6 38135682 38135682 single base substitution G A downstream_gene_variant CLLE-ES 6 38154967 38154967 single base substitution C T intron_variant CLLE-ES 6 38172219 38172219 single base substitution G A intron_variant CLLE-ES 6 38210727 38210727 single base substitution A T intron_variant CLLE-ES 6 38223289 38223289 single base substitution G T intron_variant CLLE-ES 6 38288745 38288745 single base substitution C T intron_variant CLLE-ES 6 38299943 38299943 single base substitution C T intron_variant CLLE-ES 6 38371295 38371295 single base substitution A T intron_variant CLLE-ES 6 38440950 38440950 single base substitution A G intron_variant CLLE-ES 6 38441210 38441210 single base substitution T C intron_variant CLLE-ES 6 38472563 38472563 single base substitution T C intron_variant CLLE-ES 6 38481367 38481367 single base substitution A T intron_variant CLLE-ES 6 38559281 38559281 single base substitution T C downstream_gene_variant CLLE-ES 6 38559281 38559281 single base substitution T C intron_variant CLLE-ES 6 38559478 38559478 single base substitution T C downstream_gene_variant CLLE-ES 6 38559478 38559478 single base substitution T C intron_variant CLLE-ES 6 38609563 38609563 single base substitution C T upstream_gene_variant COAD-US 6 38142900 38142900 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 6 38142900 38142900 deletion of <=200bp T - frameshift_variant N499 COAD-US 6 38142900 38142900 deletion of <=200bp T - frameshift_variant N537 COAD-US 6 38142900 38142900 deletion of <=200bp T - frameshift_variant N567 COAD-US 6 38565739 38565739 single base substitution C A 5_prime_UTR_variant COAD-US 6 38565739 38565739 single base substitution C A missense_variant K44N 132G>T COAD-US 6 38565739 38565739 single base substitution C A upstream_gene_variant COCA-CN 6 38136040 38136040 single base substitution C T downstream_gene_variant COCA-CN 6 38196412 38196412 single base substitution G A intron_variant COCA-CN 6 38206235 38206235 single base substitution C T intron_variant COCA-CN 6 38207235 38207235 single base substitution A T intron_variant COCA-CN 6 38245546 38245546 single base substitution A C intron_variant COCA-CN 6 38246110 38246110 single base substitution C G intron_variant COCA-CN 6 38247596 38247596 single base substitution T C intron_variant COCA-CN 6 38254897 38254897 single base substitution C T intron_variant COCA-CN 6 38256290 38256290 single base substitution C A intron_variant COCA-CN 6 38264872 38264872 single base substitution G A intron_variant COCA-CN 6 38266759 38266759 single base substitution C T intron_variant COCA-CN 6 38272336 38272336 single base substitution A C intron_variant COCA-CN 6 38276568 38276568 single base substitution T A intron_variant COCA-CN 6 38289600 38289600 single base substitution C T intron_variant COCA-CN 6 38301126 38301126 single base substitution C T intron_variant COCA-CN 6 38304923 38304923 single base substitution C T intron_variant COCA-CN 6 38309441 38309441 single base substitution G A intron_variant COCA-CN 6 38327096 38327096 single base substitution G A intron_variant COCA-CN 6 38338125 38338125 single base substitution C T intron_variant COCA-CN 6 38362442 38362442 single base substitution G A intron_variant COCA-CN 6 38370855 38370855 single base substitution G A intron_variant COCA-CN 6 38378114 38378114 single base substitution G A intron_variant COCA-CN 6 38398301 38398301 single base substitution T A intron_variant COCA-CN 6 38406012 38406012 single base substitution G A intron_variant COCA-CN 6 38434086 38434086 single base substitution T C intron_variant COCA-CN 6 38445303 38445303 single base substitution T A intron_variant COCA-CN 6 38461926 38461926 single base substitution T G intron_variant COCA-CN 6 38493322 38493322 single base substitution A G intron_variant COCA-CN 6 38524326 38524326 single base substitution T A intron_variant COCA-CN 6 38540817 38540817 single base substitution A T intron_variant COCA-CN 6 38545351 38545351 single base substitution C A intron_variant COCA-CN 6 38553756 38553756 single base substitution G A intron_variant COCA-CN 6 38555620 38555620 single base substitution T A intron_variant COCA-CN 6 38556093 38556093 single base substitution T G intron_variant COCA-CN 6 38556253 38556253 single base substitution T A intron_variant COCA-CN 6 38560397 38560397 single base substitution G A downstream_gene_variant COCA-CN 6 38560397 38560397 single base substitution G A exon_variant COCA-CN 6 38560397 38560397 single base substitution G A stop_gained R189* 565C>T COCA-CN 6 38560397 38560397 single base substitution G A stop_gained R198* 592C>T COCA-CN 6 38560397 38560397 single base substitution G A stop_gained R257* 769C>T COCA-CN 6 38560568 38560568 single base substitution T C downstream_gene_variant COCA-CN 6 38560568 38560568 single base substitution T C exon_variant COCA-CN 6 38560568 38560568 single base substitution T C missense_variant K132E 394A>G COCA-CN 6 38560568 38560568 single base substitution T C missense_variant K141E 421A>G COCA-CN 6 38560568 38560568 single base substitution T C missense_variant K200E 598A>G COCA-CN 6 38562058 38562058 single base substitution T G exon_variant COCA-CN 6 38562058 38562058 single base substitution T G missense_variant E18D 54A>C COCA-CN 6 38562058 38562058 single base substitution T G missense_variant E77D 231A>C COCA-CN 6 38562058 38562058 single base substitution T G missense_variant E9D 27A>C COCA-CN 6 38565929 38565929 single base substitution G A intron_variant COCA-CN 6 38565929 38565929 single base substitution G A upstream_gene_variant EOPC-DE 6 38224364 38224364 single base substitution C T intron_variant EOPC-DE 6 38241581 38241581 single base substitution T A intron_variant EOPC-DE 6 38248691 38248691 single base substitution C A intron_variant EOPC-DE 6 38309079 38309079 single base substitution T C intron_variant EOPC-DE 6 38320781 38320781 single base substitution A G intron_variant EOPC-DE 6 38329445 38329445 single base substitution C T intron_variant EOPC-DE 6 38374926 38374926 single base substitution G A intron_variant EOPC-DE 6 38439440 38439440 single base substitution T G intron_variant EOPC-DE 6 38465939 38465939 single base substitution G C intron_variant ESAD-UK 6 38132619 38132619 single base substitution C T downstream_gene_variant ESAD-UK 6 38132624 38132624 single base substitution G A downstream_gene_variant ESAD-UK 6 38132823 38132823 single base substitution A G downstream_gene_variant ESAD-UK 6 38133343 38133343 single base substitution C T downstream_gene_variant ESAD-UK 6 38134757 38134757 single base substitution G A downstream_gene_variant ESAD-UK 6 38135599 38135599 single base substitution C A downstream_gene_variant ESAD-UK 6 38139077 38139077 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 6 38139077 38139077 insertion of <=200bp - T downstream_gene_variant ESAD-UK 6 38140594 38140594 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 38140594 38140594 single base substitution C T downstream_gene_variant ESAD-UK 6 38141195 38141195 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 38141195 38141195 single base substitution C T downstream_gene_variant ESAD-UK 6 38142618 38142618 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 38142618 38142618 single base substitution C T downstream_gene_variant ESAD-UK 6 38147117 38147117 single base substitution A C intron_variant ESAD-UK 6 38147985 38147985 single base substitution C A intron_variant ESAD-UK 6 38149308 38149308 single base substitution T C intron_variant ESAD-UK 6 38150183 38150183 single base substitution T C intron_variant ESAD-UK 6 38150988 38150988 single base substitution C T intron_variant ESAD-UK 6 38151816 38151816 single base substitution A G intron_variant ESAD-UK 6 38151957 38151957 single base substitution C A intron_variant ESAD-UK 6 38153227 38153227 single base substitution G A intron_variant ESAD-UK 6 38154235 38154235 single base substitution T C intron_variant ESAD-UK 6 38154744 38154744 single base substitution C T intron_variant ESAD-UK 6 38154793 38154793 single base substitution G A intron_variant ESAD-UK 6 38155730 38155730 single base substitution C T intron_variant ESAD-UK 6 38158154 38158154 single base substitution A C intron_variant ESAD-UK 6 38158306 38158306 single base substitution T C intron_variant ESAD-UK 6 38158707 38158707 single base substitution A T intron_variant ESAD-UK 6 38161490 38161490 single base substitution C T intron_variant ESAD-UK 6 38161891 38161891 insertion of <=200bp - G intron_variant ESAD-UK 6 38162574 38162574 single base substitution C T intron_variant ESAD-UK 6 38165528 38165528 single base substitution C T intron_variant ESAD-UK 6 38165654 38165654 single base substitution G T intron_variant ESAD-UK 6 38167286 38167286 single base substitution T A intron_variant ESAD-UK 6 38167308 38167308 insertion of <=200bp - A intron_variant ESAD-UK 6 38167980 38167980 single base substitution C T intron_variant ESAD-UK 6 38168176 38168176 single base substitution G C intron_variant ESAD-UK 6 38170027 38170027 single base substitution A T intron_variant ESAD-UK 6 38182242 38182242 single base substitution C A intron_variant ESAD-UK 6 38183751 38183751 single base substitution G A intron_variant ESAD-UK 6 38187326 38187326 single base substitution C T intron_variant ESAD-UK 6 38187853 38187853 single base substitution G T intron_variant ESAD-UK 6 38188733 38188733 single base substitution G C intron_variant ESAD-UK 6 38189199 38189199 single base substitution C A intron_variant ESAD-UK 6 38190750 38190750 single base substitution T G intron_variant ESAD-UK 6 38191665 38191665 insertion of <=200bp - T intron_variant ESAD-UK 6 38192416 38192416 single base substitution T C intron_variant ESAD-UK 6 38193994 38193994 single base substitution A G intron_variant ESAD-UK 6 38194034 38194034 single base substitution G A intron_variant ESAD-UK 6 38194048 38194048 single base substitution C T intron_variant ESAD-UK 6 38196260 38196260 single base substitution T G intron_variant ESAD-UK 6 38196558 38196558 single base substitution G C intron_variant ESAD-UK 6 38196802 38196802 single base substitution G A intron_variant ESAD-UK 6 38197491 38197491 single base substitution T G intron_variant ESAD-UK 6 38197998 38197998 single base substitution C T intron_variant ESAD-UK 6 38198304 38198304 single base substitution A C intron_variant ESAD-UK 6 38199853 38199853 single base substitution G T intron_variant ESAD-UK 6 38200192 38200192 single base substitution G A intron_variant ESAD-UK 6 38201036 38201036 insertion of <=200bp - T intron_variant ESAD-UK 6 38203325 38203325 single base substitution C T intron_variant ESAD-UK 6 38203903 38203903 single base substitution T C intron_variant ESAD-UK 6 38204339 38204339 single base substitution T G intron_variant ESAD-UK 6 38205517 38205517 single base substitution G A intron_variant ESAD-UK 6 38205614 38205614 insertion of <=200bp - T intron_variant ESAD-UK 6 38205985 38205985 single base substitution T C intron_variant ESAD-UK 6 38206074 38206074 single base substitution G A intron_variant ESAD-UK 6 38206416 38206416 insertion of <=200bp - T intron_variant ESAD-UK 6 38206439 38206439 single base substitution C T intron_variant ESAD-UK 6 38206539 38206539 single base substitution G A intron_variant ESAD-UK 6 38207762 38207762 single base substitution C G intron_variant ESAD-UK 6 38208346 38208346 single base substitution G A intron_variant ESAD-UK 6 38208605 38208605 single base substitution C T intron_variant ESAD-UK 6 38209918 38209918 single base substitution G C intron_variant ESAD-UK 6 38212120 38212120 single base substitution C A intron_variant ESAD-UK 6 38212845 38212845 single base substitution C T intron_variant ESAD-UK 6 38213235 38213235 single base substitution G A intron_variant ESAD-UK 6 38214363 38214363 single base substitution C G intron_variant ESAD-UK 6 38215823 38215823 single base substitution G A intron_variant ESAD-UK 6 38219108 38219108 single base substitution T C intron_variant ESAD-UK 6 38219812 38219812 single base substitution G A intron_variant ESAD-UK 6 38220658 38220658 single base substitution G A intron_variant ESAD-UK 6 38222453 38222453 single base substitution G A intron_variant ESAD-UK 6 38224168 38224168 single base substitution G A intron_variant ESAD-UK 6 38224595 38224595 single base substitution G A intron_variant ESAD-UK 6 38225123 38225123 single base substitution A C intron_variant ESAD-UK 6 38225308 38225308 single base substitution T A intron_variant ESAD-UK 6 38225756 38225756 single base substitution A T intron_variant ESAD-UK 6 38225757 38225757 insertion of <=200bp - T intron_variant ESAD-UK 6 38226057 38226057 single base substitution C T intron_variant ESAD-UK 6 38228026 38228026 single base substitution T A intron_variant ESAD-UK 6 38229561 38229561 single base substitution G A intron_variant ESAD-UK 6 38230265 38230265 single base substitution G A intron_variant ESAD-UK 6 38232606 38232606 single base substitution C A intron_variant ESAD-UK 6 38232837 38232837 single base substitution G T intron_variant ESAD-UK 6 38233366 38233366 single base substitution T G intron_variant ESAD-UK 6 38233493 38233493 single base substitution G T intron_variant ESAD-UK 6 38234406 38234406 insertion of <=200bp - G intron_variant ESAD-UK 6 38237700 38237700 single base substitution T G intron_variant ESAD-UK 6 38239980 38239980 deletion of <=200bp A - intron_variant ESAD-UK 6 38244999 38244999 deletion of <=200bp T - intron_variant ESAD-UK 6 38246558 38246558 single base substitution C T intron_variant ESAD-UK 6 38248336 38248336 single base substitution C G intron_variant ESAD-UK 6 38249334 38249334 single base substitution A C intron_variant ESAD-UK 6 38251791 38251791 single base substitution C G intron_variant ESAD-UK 6 38251846 38251846 single base substitution A T intron_variant ESAD-UK 6 38252203 38252203 single base substitution G C intron_variant ESAD-UK 6 38252545 38252545 single base substitution A G intron_variant ESAD-UK 6 38253248 38253248 single base substitution G A intron_variant ESAD-UK 6 38254498 38254498 single base substitution A G intron_variant ESAD-UK 6 38255529 38255529 single base substitution G A intron_variant ESAD-UK 6 38257157 38257157 single base substitution A T intron_variant ESAD-UK 6 38258368 38258368 single base substitution G T intron_variant ESAD-UK 6 38258571 38258571 single base substitution G C intron_variant ESAD-UK 6 38258877 38258877 single base substitution G A intron_variant ESAD-UK 6 38260031 38260031 single base substitution C T intron_variant ESAD-UK 6 38260200 38260200 single base substitution C T intron_variant ESAD-UK 6 38260992 38260992 single base substitution A C intron_variant ESAD-UK 6 38261078 38261078 single base substitution G C intron_variant ESAD-UK 6 38261322 38261322 single base substitution T A intron_variant ESAD-UK 6 38261429 38261429 single base substitution A C intron_variant ESAD-UK 6 38261751 38261751 insertion of <=200bp - A intron_variant ESAD-UK 6 38262079 38262079 single base substitution C T intron_variant ESAD-UK 6 38262758 38262758 insertion of <=200bp - T intron_variant ESAD-UK 6 38264393 38264393 single base substitution T G intron_variant ESAD-UK 6 38266247 38266247 single base substitution G A intron_variant ESAD-UK 6 38266595 38266595 single base substitution T G intron_variant ESAD-UK 6 38266886 38266886 single base substitution G T intron_variant ESAD-UK 6 38269933 38269933 single base substitution C T intron_variant ESAD-UK 6 38272337 38272337 single base substitution A C intron_variant ESAD-UK 6 38272340 38272340 single base substitution A C intron_variant ESAD-UK 6 38273470 38273470 single base substitution G A intron_variant ESAD-UK 6 38273908 38273908 single base substitution C A intron_variant ESAD-UK 6 38273946 38273946 single base substitution G A intron_variant ESAD-UK 6 38276379 38276379 single base substitution G T intron_variant ESAD-UK 6 38276516 38276516 single base substitution G T intron_variant ESAD-UK 6 38277171 38277171 insertion of <=200bp - A intron_variant ESAD-UK 6 38277177 38277177 single base substitution A C intron_variant ESAD-UK 6 38280830 38280830 deletion of <=200bp T - intron_variant ESAD-UK 6 38281048 38281048 single base substitution A T intron_variant ESAD-UK 6 38281069 38281069 single base substitution G T intron_variant ESAD-UK 6 38282718 38282718 single base substitution C T intron_variant ESAD-UK 6 38285569 38285569 single base substitution G A intron_variant ESAD-UK 6 38285675 38285675 single base substitution C G intron_variant ESAD-UK 6 38286172 38286172 single base substitution C A intron_variant ESAD-UK 6 38286637 38286637 single base substitution G A intron_variant ESAD-UK 6 38286710 38286710 single base substitution C G intron_variant ESAD-UK 6 38287814 38287814 single base substitution T C intron_variant ESAD-UK 6 38289835 38289835 single base substitution A T intron_variant ESAD-UK 6 38290536 38290536 single base substitution C A intron_variant ESAD-UK 6 38291278 38291278 single base substitution G C intron_variant ESAD-UK 6 38291673 38291673 single base substitution A G intron_variant ESAD-UK 6 38295031 38295031 single base substitution A T intron_variant ESAD-UK 6 38295398 38295398 single base substitution G C intron_variant ESAD-UK 6 38295887 38295887 single base substitution T C intron_variant ESAD-UK 6 38297892 38297892 single base substitution G A intron_variant ESAD-UK 6 38299267 38299267 single base substitution G A intron_variant ESAD-UK 6 38299417 38299417 single base substitution T C intron_variant ESAD-UK 6 38301188 38301188 single base substitution T G intron_variant ESAD-UK 6 38301476 38301476 single base substitution G A intron_variant ESAD-UK 6 38302196 38302196 single base substitution C T intron_variant ESAD-UK 6 38303228 38303228 single base substitution C T intron_variant ESAD-UK 6 38305196 38305196 single base substitution T G intron_variant ESAD-UK 6 38305316 38305316 single base substitution T A intron_variant ESAD-UK 6 38305332 38305332 single base substitution A T intron_variant ESAD-UK 6 38306048 38306048 single base substitution C A intron_variant ESAD-UK 6 38307341 38307341 single base substitution C T intron_variant ESAD-UK 6 38308948 38308948 single base substitution T G intron_variant ESAD-UK 6 38308964 38308964 single base substitution C T intron_variant ESAD-UK 6 38309733 38309733 single base substitution A C intron_variant ESAD-UK 6 38309739 38309739 single base substitution G A intron_variant ESAD-UK 6 38315515 38315515 single base substitution G C intron_variant ESAD-UK 6 38316490 38316490 single base substitution C T intron_variant ESAD-UK 6 38316503 38316503 single base substitution G C intron_variant ESAD-UK 6 38316928 38316928 single base substitution T A intron_variant ESAD-UK 6 38317880 38317880 single base substitution C T intron_variant ESAD-UK 6 38318053 38318053 single base substitution T A intron_variant ESAD-UK 6 38318569 38318569 single base substitution A G intron_variant ESAD-UK 6 38319982 38319982 single base substitution G A intron_variant ESAD-UK 6 38320026 38320026 single base substitution G A intron_variant ESAD-UK 6 38322585 38322585 single base substitution A C intron_variant ESAD-UK 6 38323982 38323982 single base substitution T C intron_variant ESAD-UK 6 38324827 38324827 single base substitution C A intron_variant ESAD-UK 6 38325711 38325711 single base substitution A G intron_variant ESAD-UK 6 38328865 38328865 single base substitution T A intron_variant ESAD-UK 6 38330052 38330052 single base substitution G A intron_variant ESAD-UK 6 38330547 38330547 single base substitution T G intron_variant ESAD-UK 6 38330804 38330805 deletion of <=200bp AA - intron_variant ESAD-UK 6 38331213 38331213 single base substitution A G intron_variant ESAD-UK 6 38331831 38331831 single base substitution A C intron_variant ESAD-UK 6 38332351 38332351 single base substitution T C intron_variant ESAD-UK 6 38332414 38332414 single base substitution T C intron_variant ESAD-UK 6 38333349 38333349 single base substitution T A intron_variant ESAD-UK 6 38333687 38333687 single base substitution C G intron_variant ESAD-UK 6 38334317 38334317 single base substitution A G intron_variant ESAD-UK 6 38335911 38335911 single base substitution T G intron_variant ESAD-UK 6 38336325 38336325 single base substitution G A intron_variant ESAD-UK 6 38336337 38336337 single base substitution C A intron_variant ESAD-UK 6 38339430 38339430 single base substitution C T intron_variant ESAD-UK 6 38340208 38340208 single base substitution C T intron_variant ESAD-UK 6 38340293 38340293 single base substitution A G intron_variant ESAD-UK 6 38341440 38341440 single base substitution T A intron_variant ESAD-UK 6 38341788 38341788 single base substitution T C intron_variant ESAD-UK 6 38342408 38342408 single base substitution G T intron_variant ESAD-UK 6 38343081 38343081 insertion of <=200bp - T intron_variant ESAD-UK 6 38344115 38344115 single base substitution T C intron_variant ESAD-UK 6 38344897 38344897 single base substitution A C intron_variant ESAD-UK 6 38344902 38344902 single base substitution A G intron_variant ESAD-UK 6 38346316 38346316 single base substitution C T intron_variant ESAD-UK 6 38346670 38346670 single base substitution A G intron_variant ESAD-UK 6 38346958 38346958 single base substitution A G intron_variant ESAD-UK 6 38347921 38347921 insertion of <=200bp - A intron_variant ESAD-UK 6 38348587 38348587 single base substitution C T intron_variant ESAD-UK 6 38348854 38348854 single base substitution T C intron_variant ESAD-UK 6 38351961 38351961 single base substitution C T intron_variant ESAD-UK 6 38352303 38352303 single base substitution C T intron_variant ESAD-UK 6 38352358 38352358 single base substitution C T intron_variant ESAD-UK 6 38352962 38352962 single base substitution T G intron_variant ESAD-UK 6 38353905 38353905 single base substitution G A intron_variant ESAD-UK 6 38354361 38354361 single base substitution A C intron_variant ESAD-UK 6 38355470 38355470 single base substitution T C intron_variant ESAD-UK 6 38356092 38356092 single base substitution T A intron_variant ESAD-UK 6 38357821 38357821 single base substitution T G intron_variant ESAD-UK 6 38357959 38357959 insertion of <=200bp - TT intron_variant ESAD-UK 6 38357996 38357996 single base substitution G T intron_variant ESAD-UK 6 38359120 38359120 single base substitution C G intron_variant ESAD-UK 6 38359434 38359434 single base substitution T G intron_variant ESAD-UK 6 38360950 38360950 single base substitution G A intron_variant ESAD-UK 6 38361241 38361241 single base substitution A C intron_variant ESAD-UK 6 38362443 38362443 single base substitution A G intron_variant ESAD-UK 6 38362445 38362445 single base substitution A G intron_variant ESAD-UK 6 38362648 38362648 single base substitution T A intron_variant ESAD-UK 6 38362676 38362676 single base substitution T G intron_variant ESAD-UK 6 38363899 38363899 single base substitution C T intron_variant ESAD-UK 6 38364386 38364386 single base substitution A G intron_variant ESAD-UK 6 38364606 38364606 single base substitution T G intron_variant ESAD-UK 6 38365581 38365581 single base substitution T A intron_variant ESAD-UK 6 38366777 38366777 single base substitution A C intron_variant ESAD-UK 6 38366985 38366985 single base substitution C T intron_variant ESAD-UK 6 38367411 38367411 single base substitution G T intron_variant ESAD-UK 6 38370049 38370049 single base substitution C T intron_variant ESAD-UK 6 38370380 38370380 single base substitution G T intron_variant ESAD-UK 6 38370456 38370456 single base substitution A T intron_variant ESAD-UK 6 38371855 38371855 single base substitution A C intron_variant ESAD-UK 6 38372510 38372510 single base substitution A G intron_variant ESAD-UK 6 38373027 38373027 single base substitution C T intron_variant ESAD-UK 6 38373056 38373056 single base substitution G A intron_variant ESAD-UK 6 38375030 38375030 single base substitution T C intron_variant ESAD-UK 6 38375971 38375971 single base substitution A C intron_variant ESAD-UK 6 38377643 38377643 single base substitution G C intron_variant ESAD-UK 6 38379717 38379717 single base substitution A G intron_variant ESAD-UK 6 38381538 38381538 deletion of <=200bp T - intron_variant ESAD-UK 6 38382840 38382840 insertion of <=200bp - C intron_variant ESAD-UK 6 38382930 38382930 single base substitution C A intron_variant ESAD-UK 6 38383685 38383685 single base substitution C T intron_variant ESAD-UK 6 38387218 38387218 single base substitution T G intron_variant ESAD-UK 6 38387502 38387502 single base substitution C T intron_variant ESAD-UK 6 38387656 38387656 insertion of <=200bp - A intron_variant ESAD-UK 6 38387660 38387660 single base substitution A C intron_variant ESAD-UK 6 38387864 38387864 insertion of <=200bp - A intron_variant ESAD-UK 6 38388756 38388756 insertion of <=200bp - A intron_variant ESAD-UK 6 38390230 38390230 single base substitution A T intron_variant ESAD-UK 6 38390649 38390649 single base substitution G A intron_variant ESAD-UK 6 38390746 38390746 insertion of <=200bp - T intron_variant ESAD-UK 6 38390905 38390905 single base substitution G A intron_variant ESAD-UK 6 38394266 38394266 single base substitution T A intron_variant ESAD-UK 6 38395011 38395011 single base substitution A G intron_variant ESAD-UK 6 38395916 38395916 single base substitution A T intron_variant ESAD-UK 6 38396964 38396964 single base substitution C T intron_variant ESAD-UK 6 38397596 38397596 single base substitution C G intron_variant ESAD-UK 6 38397899 38397899 single base substitution G A intron_variant ESAD-UK 6 38398472 38398472 single base substitution G A intron_variant ESAD-UK 6 38398702 38398702 single base substitution G A intron_variant ESAD-UK 6 38400255 38400255 single base substitution A G intron_variant ESAD-UK 6 38400810 38400810 single base substitution G C intron_variant ESAD-UK 6 38401572 38401572 single base substitution G A intron_variant ESAD-UK 6 38401966 38401966 single base substitution C A intron_variant ESAD-UK 6 38402643 38402643 single base substitution A C intron_variant ESAD-UK 6 38403764 38403764 single base substitution A G intron_variant ESAD-UK 6 38403817 38403817 single base substitution A C intron_variant ESAD-UK 6 38405107 38405107 single base substitution T C intron_variant ESAD-UK 6 38405162 38405162 single base substitution C A intron_variant ESAD-UK 6 38406401 38406401 single base substitution A T intron_variant ESAD-UK 6 38406407 38406407 single base substitution A T intron_variant ESAD-UK 6 38407006 38407006 single base substitution T C intron_variant ESAD-UK 6 38407341 38407341 single base substitution T A intron_variant ESAD-UK 6 38407514 38407514 single base substitution T G intron_variant ESAD-UK 6 38407953 38407953 single base substitution T C intron_variant ESAD-UK 6 38408269 38408269 single base substitution G A intron_variant ESAD-UK 6 38408452 38408452 single base substitution A T intron_variant ESAD-UK 6 38409687 38409687 single base substitution T C intron_variant ESAD-UK 6 38410109 38410109 single base substitution A T intron_variant ESAD-UK 6 38410245 38410245 single base substitution C A intron_variant ESAD-UK 6 38410714 38410714 single base substitution G A intron_variant ESAD-UK 6 38413858 38413858 single base substitution T A intron_variant ESAD-UK 6 38414684 38414684 single base substitution C T intron_variant ESAD-UK 6 38414937 38414937 single base substitution T C intron_variant ESAD-UK 6 38415931 38415931 single base substitution C G intron_variant ESAD-UK 6 38416834 38416834 single base substitution A G intron_variant ESAD-UK 6 38417001 38417001 single base substitution T A intron_variant ESAD-UK 6 38417849 38417849 single base substitution A C intron_variant ESAD-UK 6 38418957 38418957 single base substitution C T intron_variant ESAD-UK 6 38423061 38423061 single base substitution C A intron_variant ESAD-UK 6 38423614 38423614 single base substitution C T intron_variant ESAD-UK 6 38423992 38423992 single base substitution G A intron_variant ESAD-UK 6 38424249 38424249 single base substitution G T intron_variant ESAD-UK 6 38425585 38425585 single base substitution T G intron_variant ESAD-UK 6 38428477 38428477 single base substitution G A intron_variant ESAD-UK 6 38428642 38428642 single base substitution G C intron_variant ESAD-UK 6 38429831 38429832 deletion of <=200bp AT - intron_variant ESAD-UK 6 38430125 38430125 single base substitution A G intron_variant ESAD-UK 6 38430613 38430613 single base substitution C T intron_variant ESAD-UK 6 38431757 38431757 single base substitution G C intron_variant ESAD-UK 6 38431806 38431806 deletion of <=200bp A - intron_variant ESAD-UK 6 38438523 38438523 single base substitution A T intron_variant ESAD-UK 6 38438895 38438895 single base substitution T C intron_variant ESAD-UK 6 38439707 38439707 single base substitution A C intron_variant ESAD-UK 6 38441024 38441024 single base substitution G A intron_variant ESAD-UK 6 38441051 38441051 single base substitution A G intron_variant ESAD-UK 6 38441254 38441254 single base substitution C G intron_variant ESAD-UK 6 38441910 38441910 single base substitution A C intron_variant ESAD-UK 6 38442725 38442725 single base substitution G A intron_variant ESAD-UK 6 38443287 38443287 single base substitution C T intron_variant ESAD-UK 6 38447885 38447885 insertion of <=200bp - A intron_variant ESAD-UK 6 38448143 38448143 single base substitution C T intron_variant ESAD-UK 6 38453328 38453328 single base substitution G T intron_variant ESAD-UK 6 38453367 38453367 single base substitution G A intron_variant ESAD-UK 6 38454977 38454977 single base substitution A T intron_variant ESAD-UK 6 38455811 38455811 insertion of <=200bp - T intron_variant ESAD-UK 6 38455931 38455931 single base substitution C T intron_variant ESAD-UK 6 38456617 38456617 single base substitution A G intron_variant ESAD-UK 6 38457086 38457086 single base substitution T A intron_variant ESAD-UK 6 38458022 38458022 single base substitution T C intron_variant ESAD-UK 6 38458107 38458107 deletion of <=200bp T - intron_variant ESAD-UK 6 38460744 38460744 single base substitution A G intron_variant ESAD-UK 6 38461565 38461565 single base substitution A G intron_variant ESAD-UK 6 38461904 38461904 single base substitution A G intron_variant ESAD-UK 6 38461916 38461916 single base substitution A G intron_variant ESAD-UK 6 38461916 38461916 single base substitution A T intron_variant ESAD-UK 6 38461923 38461923 single base substitution A C intron_variant ESAD-UK 6 38461923 38461923 single base substitution A G intron_variant ESAD-UK 6 38461924 38461924 single base substitution A C intron_variant ESAD-UK 6 38461926 38461926 single base substitution T G intron_variant ESAD-UK 6 38461927 38461927 single base substitution T G intron_variant ESAD-UK 6 38461928 38461928 single base substitution T C intron_variant ESAD-UK 6 38461928 38461928 single base substitution T G intron_variant ESAD-UK 6 38462245 38462245 single base substitution G T intron_variant ESAD-UK 6 38466183 38466183 single base substitution G C intron_variant ESAD-UK 6 38466869 38466869 single base substitution C T intron_variant ESAD-UK 6 38468629 38468629 single base substitution C T intron_variant ESAD-UK 6 38470914 38470914 single base substitution C T intron_variant ESAD-UK 6 38471699 38471699 single base substitution C T intron_variant ESAD-UK 6 38477421 38477421 deletion of <=200bp A - intron_variant ESAD-UK 6 38477881 38477881 single base substitution A G intron_variant ESAD-UK 6 38480573 38480573 single base substitution C T intron_variant ESAD-UK 6 38482252 38482252 single base substitution G T intron_variant ESAD-UK 6 38483363 38483363 single base substitution A C intron_variant ESAD-UK 6 38483863 38483863 single base substitution A C intron_variant ESAD-UK 6 38485443 38485443 insertion of <=200bp - CCC intron_variant ESAD-UK 6 38486236 38486236 single base substitution T C intron_variant ESAD-UK 6 38486812 38486812 single base substitution C T intron_variant ESAD-UK 6 38487306 38487306 single base substitution C T intron_variant ESAD-UK 6 38488397 38488397 single base substitution A C intron_variant ESAD-UK 6 38489468 38489468 single base substitution T A intron_variant ESAD-UK 6 38491751 38491751 single base substitution A T intron_variant ESAD-UK 6 38491843 38491843 single base substitution T G intron_variant ESAD-UK 6 38493963 38493963 single base substitution C G intron_variant ESAD-UK 6 38494196 38494196 single base substitution C A intron_variant ESAD-UK 6 38495972 38495972 single base substitution A C intron_variant ESAD-UK 6 38496778 38496778 single base substitution C T intron_variant ESAD-UK 6 38498118 38498118 single base substitution C T intron_variant ESAD-UK 6 38500464 38500464 single base substitution G T intron_variant ESAD-UK 6 38500771 38500771 single base substitution A T intron_variant ESAD-UK 6 38501029 38501029 single base substitution A C intron_variant ESAD-UK 6 38501071 38501071 deletion of <=200bp A - intron_variant ESAD-UK 6 38503397 38503397 single base substitution A C intron_variant ESAD-UK 6 38503686 38503686 single base substitution G A intron_variant ESAD-UK 6 38504787 38504787 single base substitution G C intron_variant ESAD-UK 6 38508851 38508851 single base substitution G T intron_variant ESAD-UK 6 38511922 38511922 single base substitution A T intron_variant ESAD-UK 6 38512437 38512437 single base substitution T G intron_variant ESAD-UK 6 38512888 38512888 single base substitution G A intron_variant ESAD-UK 6 38515378 38515378 single base substitution A G intron_variant ESAD-UK 6 38516317 38516317 single base substitution A G intron_variant ESAD-UK 6 38516329 38516329 single base substitution C T intron_variant ESAD-UK 6 38518367 38518367 single base substitution T C intron_variant ESAD-UK 6 38518464 38518464 single base substitution C T intron_variant ESAD-UK 6 38519876 38519876 single base substitution C T intron_variant ESAD-UK 6 38522025 38522025 single base substitution C T intron_variant ESAD-UK 6 38524961 38524961 single base substitution A T intron_variant ESAD-UK 6 38526420 38526420 single base substitution G A intron_variant ESAD-UK 6 38527205 38527205 single base substitution G A intron_variant ESAD-UK 6 38531164 38531164 single base substitution C T intron_variant ESAD-UK 6 38532679 38532679 single base substitution A G intron_variant ESAD-UK 6 38532863 38532863 deletion of <=200bp T - intron_variant ESAD-UK 6 38535026 38535026 single base substitution G C intron_variant ESAD-UK 6 38535620 38535620 deletion of <=200bp A - intron_variant ESAD-UK 6 38537380 38537380 single base substitution T A intron_variant ESAD-UK 6 38537847 38537847 single base substitution A C intron_variant ESAD-UK 6 38539339 38539339 single base substitution A G intron_variant ESAD-UK 6 38540742 38540742 single base substitution C A intron_variant ESAD-UK 6 38541484 38541484 single base substitution T A intron_variant ESAD-UK 6 38543358 38543358 single base substitution A C intron_variant ESAD-UK 6 38543556 38543556 single base substitution T G intron_variant ESAD-UK 6 38544160 38544160 single base substitution A C intron_variant ESAD-UK 6 38544575 38544575 single base substitution A C intron_variant ESAD-UK 6 38546089 38546089 single base substitution T A intron_variant ESAD-UK 6 38547514 38547514 single base substitution A G intron_variant ESAD-UK 6 38548186 38548186 single base substitution T G exon_variant ESAD-UK 6 38548186 38548186 single base substitution T G missense_variant K213T 638A>C ESAD-UK 6 38548186 38548186 single base substitution T G missense_variant K222T 665A>C ESAD-UK 6 38548186 38548186 single base substitution T G missense_variant K281T 842A>C ESAD-UK 6 38549713 38549713 insertion of <=200bp - A intron_variant ESAD-UK 6 38551507 38551507 single base substitution G A intron_variant ESAD-UK 6 38551870 38551870 single base substitution A G intron_variant ESAD-UK 6 38552717 38552717 single base substitution T C intron_variant ESAD-UK 6 38553256 38553256 single base substitution A G intron_variant ESAD-UK 6 38555557 38555557 single base substitution G T intron_variant ESAD-UK 6 38556625 38556625 single base substitution T C intron_variant ESAD-UK 6 38556982 38556982 single base substitution T G downstream_gene_variant ESAD-UK 6 38556982 38556982 single base substitution T G intron_variant ESAD-UK 6 38558497 38558497 single base substitution A C downstream_gene_variant ESAD-UK 6 38558497 38558497 single base substitution A C intron_variant ESAD-UK 6 38559349 38559349 single base substitution T G downstream_gene_variant ESAD-UK 6 38559349 38559349 single base substitution T G intron_variant ESAD-UK 6 38564124 38564124 single base substitution G A intron_variant ESAD-UK 6 38564124 38564124 single base substitution G A upstream_gene_variant ESAD-UK 6 38564324 38564324 single base substitution C T intron_variant ESAD-UK 6 38564324 38564324 single base substitution C T upstream_gene_variant ESAD-UK 6 38566608 38566608 single base substitution G A intron_variant ESAD-UK 6 38566608 38566608 single base substitution G A upstream_gene_variant ESAD-UK 6 38567620 38567620 single base substitution C T intron_variant ESAD-UK 6 38567620 38567620 single base substitution C T upstream_gene_variant ESAD-UK 6 38568137 38568137 single base substitution C A intron_variant ESAD-UK 6 38568137 38568137 single base substitution C A upstream_gene_variant ESAD-UK 6 38568829 38568829 single base substitution C A intron_variant ESAD-UK 6 38568829 38568829 single base substitution C A upstream_gene_variant ESAD-UK 6 38569699 38569699 single base substitution A G intron_variant ESAD-UK 6 38569699 38569699 single base substitution A G upstream_gene_variant ESAD-UK 6 38569848 38569848 insertion of <=200bp - A intron_variant ESAD-UK 6 38569848 38569848 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 38570089 38570089 single base substitution A C intron_variant ESAD-UK 6 38570089 38570089 single base substitution A C upstream_gene_variant ESAD-UK 6 38572269 38572269 single base substitution G A intron_variant ESAD-UK 6 38575239 38575239 single base substitution C T intron_variant ESAD-UK 6 38577344 38577344 single base substitution A T intron_variant ESAD-UK 6 38578330 38578330 single base substitution A C intron_variant ESAD-UK 6 38581407 38581407 single base substitution A T intron_variant ESAD-UK 6 38583715 38583715 single base substitution G A intron_variant ESAD-UK 6 38584782 38584782 single base substitution C T intron_variant ESAD-UK 6 38586001 38586001 insertion of <=200bp - AGG intron_variant ESAD-UK 6 38587051 38587051 single base substitution C A intron_variant ESAD-UK 6 38587454 38587454 single base substitution C A intron_variant ESAD-UK 6 38588280 38588280 single base substitution A G intron_variant ESAD-UK 6 38589024 38589024 single base substitution G C intron_variant ESAD-UK 6 38589965 38589965 single base substitution G A intron_variant ESAD-UK 6 38593993 38593993 single base substitution G A intron_variant ESAD-UK 6 38594180 38594180 single base substitution T C intron_variant ESAD-UK 6 38597367 38597367 single base substitution A C intron_variant ESAD-UK 6 38599255 38599255 single base substitution G C intron_variant ESAD-UK 6 38599543 38599543 single base substitution A G intron_variant ESAD-UK 6 38599836 38599836 single base substitution G A intron_variant ESAD-UK 6 38600729 38600729 single base substitution A T intron_variant ESAD-UK 6 38602352 38602352 single base substitution T A intron_variant ESAD-UK 6 38602362 38602362 single base substitution G A intron_variant ESAD-UK 6 38602444 38602444 single base substitution T G intron_variant ESAD-UK 6 38602632 38602632 single base substitution A G intron_variant ESAD-UK 6 38605008 38605008 single base substitution T G intron_variant ESAD-UK 6 38605781 38605781 single base substitution C T intron_variant ESAD-UK 6 38606073 38606073 deletion of <=200bp A - intron_variant ESAD-UK 6 38606540 38606540 single base substitution T A intron_variant ESAD-UK 6 38607623 38607623 single base substitution C T 5_prime_UTR_variant ESAD-UK 6 38607791 38607791 single base substitution G T 5_prime_UTR_variant ESAD-UK 6 38607791 38607791 single base substitution G T upstream_gene_variant ESAD-UK 6 38608340 38608340 single base substitution G A upstream_gene_variant ESAD-UK 6 38610407 38610407 single base substitution A G upstream_gene_variant ESAD-UK 6 38612054 38612054 single base substitution G A upstream_gene_variant ESCA-CN 6 38312801 38312801 single base substitution A T 3_prime_UTR_variant ESCA-CN 6 38312801 38312801 single base substitution A T missense_variant M340K 1019T>A ESCA-CN 6 38312801 38312801 single base substitution A T missense_variant M378K 1133T>A ESCA-CN 6 38312801 38312801 single base substitution A T missense_variant M408K 1223T>A ESCA-CN 6 38565757 38565757 single base substitution G C 5_prime_UTR_variant ESCA-CN 6 38565757 38565757 single base substitution G C synonymous_variant V38V 114C>G ESCA-CN 6 38565757 38565757 single base substitution G C upstream_gene_variant GBM-US 6 38224188 38224188 single base substitution C A 3_prime_UTR_variant GBM-US 6 38224188 38224188 single base substitution C A missense_variant C452F 1355G>T GBM-US 6 38224188 38224188 single base substitution C A missense_variant C490F 1469G>T GBM-US 6 38224188 38224188 single base substitution C A missense_variant C520F 1559G>T GBM-US 6 38256182 38256182 single base substitution G T 3_prime_UTR_variant GBM-US 6 38256182 38256182 single base substitution G T synonymous_variant V372V 1116C>A GBM-US 6 38256182 38256182 single base substitution G T synonymous_variant V410V 1230C>A GBM-US 6 38256182 38256182 single base substitution G T synonymous_variant V440V 1320C>A KIRC-US 6 38160335 38160335 single base substitution G T 3_prime_UTR_variant KIRC-US 6 38160335 38160335 single base substitution G T missense_variant S466Y 1397C>A KIRC-US 6 38160335 38160335 single base substitution G T missense_variant S504Y 1511C>A KIRC-US 6 38160335 38160335 single base substitution G T missense_variant S534Y 1601C>A KIRC-US 6 38224273 38224273 single base substitution C A 3_prime_UTR_variant KIRC-US 6 38224273 38224273 single base substitution C A missense_variant D424Y 1270G>T KIRC-US 6 38224273 38224273 single base substitution C A missense_variant D462Y 1384G>T KIRC-US 6 38224273 38224273 single base substitution C A missense_variant D492Y 1474G>T LAML-KR 6 38245128 38245128 single base substitution G T intron_variant LAML-KR 6 38405998 38405998 single base substitution G A intron_variant LAML-KR 6 38524300 38524300 single base substitution T C intron_variant LAML-KR 6 38540560 38540560 single base substitution T A intron_variant LICA-CN 6 38256074 38256074 single base substitution T C 3_prime_UTR_variant LICA-CN 6 38256074 38256074 single base substitution T C synonymous_variant A408A 1224A>G LICA-CN 6 38256074 38256074 single base substitution T C synonymous_variant A446A 1338A>G LICA-CN 6 38256074 38256074 single base substitution T C synonymous_variant A476A 1428A>G LICA-FR 6 38139332 38139351 deletion of <=200bp GTGTGTGTGTGTGTGTGTGT - 3_prime_UTR_variant LICA-FR 6 38139332 38139351 deletion of <=200bp GTGTGTGTGTGTGTGTGTGT - downstream_gene_variant LICA-FR 6 38148866 38148866 single base substitution G C intron_variant LICA-FR 6 38160362 38160362 single base substitution G A 3_prime_UTR_variant LICA-FR 6 38160362 38160362 single base substitution G A missense_variant S457L 1370C>T LICA-FR 6 38160362 38160362 single base substitution G A missense_variant S495L 1484C>T LICA-FR 6 38160362 38160362 single base substitution G A missense_variant S525L 1574C>T LICA-FR 6 38185758 38185762 deletion of <=200bp AGTCT - intron_variant LICA-FR 6 38185771 38185776 deletion of <=200bp CTCTGC - intron_variant LICA-FR 6 38189474 38189474 single base substitution T G intron_variant LICA-FR 6 38200051 38200051 deletion of <=200bp T - intron_variant LICA-FR 6 38211343 38211343 single base substitution A G intron_variant LICA-FR 6 38215251 38215251 insertion of <=200bp - T intron_variant LICA-FR 6 38219759 38219759 single base substitution G A intron_variant LICA-FR 6 38221016 38221016 single base substitution T A intron_variant LICA-FR 6 38230931 38230931 single base substitution T C intron_variant LICA-FR 6 38231033 38231033 single base substitution A G intron_variant LICA-FR 6 38232870 38232870 single base substitution G A intron_variant LICA-FR 6 38233691 38233691 single base substitution C T intron_variant LICA-FR 6 38266552 38266552 single base substitution C T intron_variant LICA-FR 6 38268008 38268008 single base substitution C T intron_variant LICA-FR 6 38301583 38301583 single base substitution C A intron_variant LICA-FR 6 38303522 38303522 single base substitution T A intron_variant LICA-FR 6 38303534 38303534 single base substitution G C intron_variant LICA-FR 6 38306964 38306964 single base substitution G T intron_variant LICA-FR 6 38310871 38310871 single base substitution G A intron_variant LICA-FR 6 38326599 38326599 single base substitution C T intron_variant LICA-FR 6 38333535 38333535 deletion of <=200bp A - intron_variant LICA-FR 6 38339316 38339316 single base substitution G A intron_variant LICA-FR 6 38369629 38369629 single base substitution T C intron_variant LICA-FR 6 38376165 38376165 single base substitution T C intron_variant LICA-FR 6 38377471 38377471 single base substitution G A intron_variant LICA-FR 6 38383685 38383685 single base substitution C T intron_variant LICA-FR 6 38387027 38387027 single base substitution T A intron_variant LICA-FR 6 38392343 38392343 single base substitution A C intron_variant LICA-FR 6 38398302 38398302 single base substitution T G intron_variant LICA-FR 6 38401479 38401479 single base substitution T A intron_variant LICA-FR 6 38424516 38424516 single base substitution T C intron_variant LICA-FR 6 38437099 38437099 insertion of <=200bp - T intron_variant LICA-FR 6 38457315 38457315 single base substitution T G intron_variant LICA-FR 6 38466234 38466234 insertion of <=200bp - AAA intron_variant LICA-FR 6 38466234 38466234 insertion of <=200bp - A intron_variant LICA-FR 6 38470462 38470462 single base substitution T G intron_variant LICA-FR 6 38471386 38471386 single base substitution T G intron_variant LICA-FR 6 38471388 38471388 single base substitution C A intron_variant LICA-FR 6 38486618 38486618 single base substitution T A intron_variant LICA-FR 6 38507641 38507641 single base substitution A G intron_variant LICA-FR 6 38530705 38530705 single base substitution C T intron_variant LICA-FR 6 38532403 38532403 single base substitution G A intron_variant LICA-FR 6 38537691 38537691 single base substitution A G intron_variant LICA-FR 6 38560532 38560532 single base substitution G A downstream_gene_variant LICA-FR 6 38560532 38560532 single base substitution G A exon_variant LICA-FR 6 38560532 38560532 single base substitution G A missense_variant H144Y 430C>T LICA-FR 6 38560532 38560532 single base substitution G A missense_variant H153Y 457C>T LICA-FR 6 38560532 38560532 single base substitution G A missense_variant H212Y 634C>T LICA-FR 6 38597716 38597716 single base substitution G C intron_variant LIHC-US 6 38256182 38256182 single base substitution G A 3_prime_UTR_variant LIHC-US 6 38256182 38256182 single base substitution G A synonymous_variant V372V 1116C>T LIHC-US 6 38256182 38256182 single base substitution G A synonymous_variant V410V 1230C>T LIHC-US 6 38256182 38256182 single base substitution G A synonymous_variant V440V 1320C>T LIHC-US 6 38565731 38565731 single base substitution A G 5_prime_UTR_variant LIHC-US 6 38565731 38565731 single base substitution A G missense_variant F47S 140T>C LIHC-US 6 38565731 38565731 single base substitution A G upstream_gene_variant LINC-JP 6 38131932 38131932 single base substitution G T downstream_gene_variant LINC-JP 6 38158550 38158550 single base substitution G T intron_variant LINC-JP 6 38170817 38170817 single base substitution A T intron_variant LINC-JP 6 38188920 38188920 single base substitution C T intron_variant LINC-JP 6 38189128 38189128 single base substitution C T intron_variant LINC-JP 6 38207939 38207939 single base substitution C T intron_variant LINC-JP 6 38228109 38228109 single base substitution G A intron_variant LINC-JP 6 38235670 38235670 single base substitution C T intron_variant LINC-JP 6 38247786 38247786 deletion of <=200bp T - intron_variant LINC-JP 6 38254923 38254923 single base substitution T C intron_variant LINC-JP 6 38267068 38267068 single base substitution T C intron_variant LINC-JP 6 38278323 38278329 deletion of <=200bp AAAGTAC - intron_variant LINC-JP 6 38279852 38279852 single base substitution G C intron_variant LINC-JP 6 38290713 38290713 single base substitution T C intron_variant LINC-JP 6 38297987 38297987 single base substitution C A intron_variant LINC-JP 6 38297988 38297988 single base substitution C A intron_variant LINC-JP 6 38301624 38301624 single base substitution T C intron_variant LINC-JP 6 38333034 38333034 single base substitution G A intron_variant LINC-JP 6 38334029 38334029 single base substitution C T intron_variant LINC-JP 6 38345528 38345528 single base substitution C A intron_variant LINC-JP 6 38359410 38359410 deletion of <=200bp T - intron_variant LINC-JP 6 38362743 38362743 insertion of <=200bp - A intron_variant LINC-JP 6 38363162 38363162 single base substitution A G intron_variant LINC-JP 6 38367422 38367422 single base substitution A T intron_variant LINC-JP 6 38367543 38367543 single base substitution T C intron_variant LINC-JP 6 38384120 38384120 single base substitution T G intron_variant LINC-JP 6 38398290 38398290 deletion of <=200bp A - intron_variant LINC-JP 6 38409012 38409012 single base substitution G A intron_variant LINC-JP 6 38423316 38423316 single base substitution T G intron_variant LINC-JP 6 38447160 38447160 deletion of <=200bp A - intron_variant LINC-JP 6 38455314 38455314 single base substitution C T intron_variant LINC-JP 6 38455368 38455368 single base substitution C A intron_variant LINC-JP 6 38455435 38455435 single base substitution G A intron_variant LINC-JP 6 38459004 38459004 single base substitution G A intron_variant LINC-JP 6 38471382 38471382 single base substitution T C intron_variant LINC-JP 6 38482020 38482020 single base substitution G T intron_variant LINC-JP 6 38482589 38482589 single base substitution T C intron_variant LINC-JP 6 38489302 38489302 single base substitution T C intron_variant LINC-JP 6 38510413 38510413 single base substitution T C intron_variant LINC-JP 6 38517363 38517364 deletion of <=200bp AA - intron_variant LINC-JP 6 38542883 38542883 single base substitution C T intron_variant LINC-JP 6 38559974 38559974 single base substitution A G downstream_gene_variant LINC-JP 6 38559974 38559974 single base substitution A G intron_variant LINC-JP 6 38561760 38561774 deletion of <=200bp CTTCACTTGAGAGGA - disruptive_inframe_deletion VLSSEG104G LINC-JP 6 38561760 38561774 deletion of <=200bp CTTCACTTGAGAGGA - disruptive_inframe_deletion VLSSEG113G LINC-JP 6 38561760 38561774 deletion of <=200bp CTTCACTTGAGAGGA - disruptive_inframe_deletion VLSSEG172G LINC-JP 6 38561760 38561774 deletion of <=200bp CTTCACTTGAGAGGA - downstream_gene_variant LINC-JP 6 38561760 38561774 deletion of <=200bp CTTCACTTGAGAGGA - exon_variant LINC-JP 6 38569081 38569081 single base substitution T C intron_variant LINC-JP 6 38569081 38569081 single base substitution T C upstream_gene_variant LINC-JP 6 38579129 38579129 single base substitution G T intron_variant LINC-JP 6 38582667 38582667 single base substitution G C intron_variant LINC-JP 6 38597110 38597110 single base substitution T G intron_variant LIRI-JP 6 38131779 38131779 single base substitution A G downstream_gene_variant LIRI-JP 6 38131956 38131956 single base substitution T G downstream_gene_variant LIRI-JP 6 38139839 38139839 single base substitution C T 3_prime_UTR_variant LIRI-JP 6 38139839 38139839 single base substitution C T downstream_gene_variant LIRI-JP 6 38143152 38143152 single base substitution C A intron_variant LIRI-JP 6 38145241 38145241 single base substitution A G intron_variant LIRI-JP 6 38145547 38145547 single base substitution G C intron_variant LIRI-JP 6 38145866 38145866 single base substitution C G intron_variant LIRI-JP 6 38146239 38146239 single base substitution C A intron_variant LIRI-JP 6 38149896 38149896 single base substitution A C intron_variant LIRI-JP 6 38151481 38151481 single base substitution C T intron_variant LIRI-JP 6 38157557 38157557 single base substitution G A intron_variant LIRI-JP 6 38157784 38157784 single base substitution C A intron_variant LIRI-JP 6 38157825 38157825 single base substitution C T intron_variant LIRI-JP 6 38157867 38157867 single base substitution C T intron_variant LIRI-JP 6 38158814 38158814 single base substitution T C intron_variant LIRI-JP 6 38159593 38159593 single base substitution C T intron_variant LIRI-JP 6 38160909 38160909 single base substitution A T intron_variant LIRI-JP 6 38164224 38164224 single base substitution C T intron_variant LIRI-JP 6 38164266 38164266 single base substitution G A intron_variant LIRI-JP 6 38165712 38165712 single base substitution T C intron_variant LIRI-JP 6 38166478 38166478 single base substitution G C intron_variant LIRI-JP 6 38167237 38167237 single base substitution G A intron_variant LIRI-JP 6 38167436 38167436 single base substitution T G intron_variant LIRI-JP 6 38168700 38168700 single base substitution G T intron_variant LIRI-JP 6 38178722 38178722 single base substitution G C intron_variant LIRI-JP 6 38179581 38179582 deletion of <=200bp TG - intron_variant LIRI-JP 6 38182436 38182436 single base substitution C A intron_variant LIRI-JP 6 38183773 38183773 single base substitution T C intron_variant LIRI-JP 6 38184265 38184265 single base substitution T G intron_variant LIRI-JP 6 38186618 38186618 single base substitution A T intron_variant LIRI-JP 6 38187993 38187993 single base substitution A T intron_variant LIRI-JP 6 38188320 38188320 single base substitution G A intron_variant LIRI-JP 6 38188335 38188335 single base substitution T C intron_variant LIRI-JP 6 38190376 38190376 single base substitution T C intron_variant LIRI-JP 6 38190825 38190825 single base substitution G A intron_variant LIRI-JP 6 38191053 38191053 single base substitution A C intron_variant LIRI-JP 6 38191071 38191071 single base substitution T G intron_variant LIRI-JP 6 38193157 38193157 single base substitution G C intron_variant LIRI-JP 6 38200393 38200393 single base substitution T A intron_variant LIRI-JP 6 38202787 38202787 single base substitution T A intron_variant LIRI-JP 6 38203480 38203481 deletion of <=200bp AG - intron_variant LIRI-JP 6 38205462 38205462 single base substitution T C intron_variant LIRI-JP 6 38208040 38208040 single base substitution T A intron_variant LIRI-JP 6 38208443 38208443 single base substitution T C intron_variant LIRI-JP 6 38208465 38208465 single base substitution T G intron_variant LIRI-JP 6 38212605 38212605 single base substitution G A intron_variant LIRI-JP 6 38213944 38213944 single base substitution T C intron_variant LIRI-JP 6 38214999 38215000 deletion of <=200bp TA - intron_variant LIRI-JP 6 38217045 38217045 single base substitution T G intron_variant LIRI-JP 6 38217902 38217902 single base substitution G T intron_variant LIRI-JP 6 38218570 38218570 single base substitution C T intron_variant LIRI-JP 6 38221117 38221117 single base substitution G C intron_variant LIRI-JP 6 38223468 38223468 single base substitution T C intron_variant LIRI-JP 6 38223642 38223642 single base substitution T G intron_variant LIRI-JP 6 38224031 38224031 single base substitution T C intron_variant LIRI-JP 6 38226064 38226064 single base substitution A T intron_variant LIRI-JP 6 38227692 38227692 single base substitution G T intron_variant LIRI-JP 6 38229404 38229404 single base substitution C T intron_variant LIRI-JP 6 38230740 38230740 single base substitution A G intron_variant LIRI-JP 6 38230821 38230821 single base substitution C T intron_variant LIRI-JP 6 38232045 38232045 single base substitution C T intron_variant LIRI-JP 6 38234917 38234917 single base substitution C A intron_variant LIRI-JP 6 38235745 38235745 single base substitution G A intron_variant LIRI-JP 6 38236581 38236581 single base substitution A T intron_variant LIRI-JP 6 38242071 38242071 single base substitution T A intron_variant LIRI-JP 6 38244591 38244595 deletion of <=200bp TTTCA - intron_variant LIRI-JP 6 38246184 38246184 single base substitution T C intron_variant LIRI-JP 6 38247192 38247192 single base substitution G C intron_variant LIRI-JP 6 38251055 38251055 single base substitution A T intron_variant LIRI-JP 6 38252186 38252186 single base substitution A G intron_variant LIRI-JP 6 38252710 38252710 single base substitution C G intron_variant LIRI-JP 6 38253014 38253014 single base substitution T C intron_variant LIRI-JP 6 38253391 38253391 single base substitution A G intron_variant LIRI-JP 6 38254793 38254793 single base substitution G T intron_variant LIRI-JP 6 38257268 38257268 single base substitution T C intron_variant LIRI-JP 6 38258080 38258080 single base substitution A T intron_variant LIRI-JP 6 38259204 38259204 single base substitution T A intron_variant LIRI-JP 6 38259760 38259760 single base substitution G T intron_variant LIRI-JP 6 38262834 38262834 single base substitution T C intron_variant LIRI-JP 6 38263058 38263058 single base substitution A C intron_variant LIRI-JP 6 38263254 38263254 single base substitution C A intron_variant LIRI-JP 6 38263899 38263899 single base substitution C T intron_variant LIRI-JP 6 38265449 38265449 single base substitution T G intron_variant LIRI-JP 6 38266396 38266396 single base substitution T C intron_variant LIRI-JP 6 38266673 38266673 single base substitution G A intron_variant LIRI-JP 6 38267949 38267949 single base substitution T C intron_variant LIRI-JP 6 38268060 38268060 single base substitution G T intron_variant LIRI-JP 6 38270357 38270357 single base substitution G C intron_variant LIRI-JP 6 38270664 38270664 single base substitution T A intron_variant LIRI-JP 6 38272521 38272521 single base substitution A T intron_variant LIRI-JP 6 38273655 38273655 single base substitution T C intron_variant LIRI-JP 6 38274091 38274091 single base substitution C A intron_variant LIRI-JP 6 38274612 38274612 single base substitution G A intron_variant LIRI-JP 6 38275048 38275048 single base substitution A C intron_variant LIRI-JP 6 38276491 38276491 single base substitution C A intron_variant LIRI-JP 6 38277370 38277370 single base substitution G T intron_variant LIRI-JP 6 38279333 38279333 single base substitution G A intron_variant LIRI-JP 6 38279619 38279619 single base substitution T A intron_variant LIRI-JP 6 38282858 38282858 single base substitution T C intron_variant LIRI-JP 6 38284411 38284411 single base substitution T C intron_variant LIRI-JP 6 38288333 38288333 single base substitution T C intron_variant LIRI-JP 6 38288402 38288402 single base substitution G A intron_variant LIRI-JP 6 38289005 38289005 single base substitution T C intron_variant LIRI-JP 6 38289156 38289156 single base substitution T C intron_variant LIRI-JP 6 38291017 38291017 deletion of <=200bp C - intron_variant LIRI-JP 6 38291934 38291934 single base substitution A T intron_variant LIRI-JP 6 38293111 38293111 single base substitution C T intron_variant LIRI-JP 6 38293817 38293817 single base substitution T C intron_variant LIRI-JP 6 38299060 38299060 single base substitution G C intron_variant LIRI-JP 6 38300130 38300130 single base substitution A T intron_variant LIRI-JP 6 38300576 38300576 single base substitution C A intron_variant LIRI-JP 6 38303192 38303192 single base substitution T C intron_variant LIRI-JP 6 38304605 38304605 single base substitution G T intron_variant LIRI-JP 6 38306450 38306450 single base substitution G A intron_variant LIRI-JP 6 38308245 38308245 single base substitution T C intron_variant LIRI-JP 6 38308480 38308480 single base substitution G A intron_variant LIRI-JP 6 38309398 38309398 single base substitution C A intron_variant LIRI-JP 6 38312254 38312254 single base substitution G A intron_variant LIRI-JP 6 38312423 38312423 single base substitution G A intron_variant LIRI-JP 6 38314157 38314157 single base substitution T C intron_variant LIRI-JP 6 38318848 38318848 single base substitution C A intron_variant LIRI-JP 6 38318971 38318993 deletion of <=200bp GGGCCAAGCAGCATTTGCTTGTT - intron_variant LIRI-JP 6 38319666 38319666 single base substitution G A intron_variant LIRI-JP 6 38321070 38321070 single base substitution G C intron_variant LIRI-JP 6 38325125 38325125 single base substitution T G intron_variant LIRI-JP 6 38326225 38326225 single base substitution G A intron_variant LIRI-JP 6 38330413 38330413 single base substitution G C intron_variant LIRI-JP 6 38330942 38330942 single base substitution G A intron_variant LIRI-JP 6 38333989 38333989 single base substitution T C intron_variant LIRI-JP 6 38335460 38335460 single base substitution A G intron_variant LIRI-JP 6 38335641 38335641 single base substitution T A intron_variant LIRI-JP 6 38340039 38340039 single base substitution C T intron_variant LIRI-JP 6 38340935 38340935 single base substitution T C intron_variant LIRI-JP 6 38341349 38341349 single base substitution C A intron_variant LIRI-JP 6 38344319 38344319 single base substitution T C intron_variant LIRI-JP 6 38347950 38347950 single base substitution A T intron_variant LIRI-JP 6 38351615 38351615 single base substitution T C intron_variant LIRI-JP 6 38355660 38355660 single base substitution G C intron_variant LIRI-JP 6 38357781 38357781 single base substitution T C intron_variant LIRI-JP 6 38357955 38357955 single base substitution T C intron_variant LIRI-JP 6 38358212 38358212 single base substitution C T intron_variant LIRI-JP 6 38361762 38361762 single base substitution T A intron_variant LIRI-JP 6 38362251 38362251 single base substitution T G intron_variant LIRI-JP 6 38362457 38362457 single base substitution G A intron_variant LIRI-JP 6 38363394 38363394 single base substitution T A intron_variant LIRI-JP 6 38363523 38363523 single base substitution T A intron_variant LIRI-JP 6 38365900 38365900 single base substitution G A intron_variant LIRI-JP 6 38366086 38366086 single base substitution T C intron_variant LIRI-JP 6 38366501 38366501 single base substitution T C intron_variant LIRI-JP 6 38366629 38366629 single base substitution T A intron_variant LIRI-JP 6 38369973 38369973 single base substitution C T intron_variant LIRI-JP 6 38371649 38371649 single base substitution C G intron_variant LIRI-JP 6 38372050 38372050 single base substitution C T intron_variant LIRI-JP 6 38372203 38372235 deletion of <=200bp ACAAATTTGCATCTTATCTGGCACAGTTCCAAA - intron_variant LIRI-JP 6 38372370 38372370 single base substitution G C intron_variant LIRI-JP 6 38372551 38372551 single base substitution G T intron_variant LIRI-JP 6 38374102 38374102 single base substitution C G intron_variant LIRI-JP 6 38374842 38374842 single base substitution T C intron_variant LIRI-JP 6 38375148 38375148 single base substitution T A intron_variant LIRI-JP 6 38375339 38375339 single base substitution T C intron_variant LIRI-JP 6 38378668 38378668 single base substitution T A intron_variant LIRI-JP 6 38379988 38379988 single base substitution T C intron_variant LIRI-JP 6 38382578 38382578 single base substitution C T intron_variant LIRI-JP 6 38383948 38383948 single base substitution C A intron_variant LIRI-JP 6 38384239 38384239 single base substitution T C intron_variant LIRI-JP 6 38385307 38385307 single base substitution C T intron_variant LIRI-JP 6 38386699 38386699 single base substitution G A intron_variant LIRI-JP 6 38387089 38387089 single base substitution G A intron_variant LIRI-JP 6 38387957 38387957 single base substitution T C intron_variant LIRI-JP 6 38388530 38388530 single base substitution G T intron_variant LIRI-JP 6 38389201 38389201 single base substitution T C intron_variant LIRI-JP 6 38392611 38392611 single base substitution T A intron_variant LIRI-JP 6 38394578 38394578 single base substitution C T intron_variant LIRI-JP 6 38396460 38396460 single base substitution A C intron_variant LIRI-JP 6 38398568 38398568 single base substitution G T intron_variant LIRI-JP 6 38400399 38400399 single base substitution T A intron_variant LIRI-JP 6 38400654 38400654 single base substitution T C intron_variant LIRI-JP 6 38400745 38400745 single base substitution C A intron_variant LIRI-JP 6 38402196 38402196 single base substitution T A intron_variant LIRI-JP 6 38403798 38403798 single base substitution T A intron_variant LIRI-JP 6 38406548 38406548 single base substitution T C intron_variant LIRI-JP 6 38413966 38413966 deletion of <=200bp C - intron_variant LIRI-JP 6 38414070 38414070 single base substitution A C intron_variant LIRI-JP 6 38414534 38414534 single base substitution G A intron_variant LIRI-JP 6 38417646 38417646 single base substitution C A intron_variant LIRI-JP 6 38419061 38419061 single base substitution C T intron_variant LIRI-JP 6 38419243 38419243 single base substitution A C intron_variant LIRI-JP 6 38420664 38420664 single base substitution C A intron_variant LIRI-JP 6 38421924 38421924 single base substitution T A intron_variant LIRI-JP 6 38425085 38425085 single base substitution T C intron_variant LIRI-JP 6 38425474 38425474 single base substitution G C intron_variant LIRI-JP 6 38428287 38428287 single base substitution T C intron_variant LIRI-JP 6 38428371 38428371 single base substitution A G intron_variant LIRI-JP 6 38428449 38428449 single base substitution G T intron_variant LIRI-JP 6 38436972 38436972 deletion of <=200bp A - intron_variant LIRI-JP 6 38437880 38437880 single base substitution G T intron_variant LIRI-JP 6 38439690 38439690 single base substitution T C intron_variant LIRI-JP 6 38439759 38439759 single base substitution C T intron_variant LIRI-JP 6 38441355 38441355 single base substitution T C intron_variant LIRI-JP 6 38442056 38442056 single base substitution T C intron_variant LIRI-JP 6 38442389 38442389 single base substitution C A intron_variant LIRI-JP 6 38442827 38442827 single base substitution T C intron_variant LIRI-JP 6 38442995 38442995 single base substitution G A intron_variant LIRI-JP 6 38445330 38445330 single base substitution T C intron_variant LIRI-JP 6 38445618 38445618 single base substitution G A intron_variant LIRI-JP 6 38449004 38449004 single base substitution G A intron_variant LIRI-JP 6 38449138 38449138 single base substitution G T intron_variant LIRI-JP 6 38452038 38452038 single base substitution T C intron_variant LIRI-JP 6 38454455 38454455 single base substitution T C intron_variant LIRI-JP 6 38454877 38454877 single base substitution G T intron_variant LIRI-JP 6 38455653 38455653 single base substitution T C intron_variant LIRI-JP 6 38456302 38456302 single base substitution C T intron_variant LIRI-JP 6 38457839 38457839 single base substitution T C intron_variant LIRI-JP 6 38457878 38457878 single base substitution A G intron_variant LIRI-JP 6 38460279 38460279 single base substitution T C intron_variant LIRI-JP 6 38460713 38460713 single base substitution T C intron_variant LIRI-JP 6 38461050 38461050 single base substitution C A intron_variant LIRI-JP 6 38461927 38461927 single base substitution T G intron_variant LIRI-JP 6 38463731 38463731 single base substitution G A intron_variant LIRI-JP 6 38466575 38466575 single base substitution C A intron_variant LIRI-JP 6 38467158 38467158 single base substitution C T intron_variant LIRI-JP 6 38468032 38468032 single base substitution G A intron_variant LIRI-JP 6 38468805 38468805 single base substitution G A intron_variant LIRI-JP 6 38468969 38468969 single base substitution G A intron_variant LIRI-JP 6 38469693 38469693 single base substitution A G intron_variant LIRI-JP 6 38470455 38470455 single base substitution G T intron_variant LIRI-JP 6 38474607 38474607 single base substitution T C intron_variant LIRI-JP 6 38475145 38475145 single base substitution C A intron_variant LIRI-JP 6 38476454 38476454 single base substitution G A intron_variant LIRI-JP 6 38478594 38478594 single base substitution T C intron_variant LIRI-JP 6 38479007 38479007 single base substitution T C intron_variant LIRI-JP 6 38480028 38480028 single base substitution C T intron_variant LIRI-JP 6 38483696 38483696 single base substitution T C intron_variant LIRI-JP 6 38484384 38484384 single base substitution T A intron_variant LIRI-JP 6 38484445 38484445 single base substitution A T intron_variant LIRI-JP 6 38486374 38486374 single base substitution A C intron_variant LIRI-JP 6 38487256 38487256 single base substitution T C intron_variant LIRI-JP 6 38489359 38489359 single base substitution C T intron_variant LIRI-JP 6 38490235 38490235 single base substitution C T intron_variant LIRI-JP 6 38491573 38491573 single base substitution T C intron_variant LIRI-JP 6 38493045 38493045 single base substitution C A intron_variant LIRI-JP 6 38493363 38493363 single base substitution G C intron_variant LIRI-JP 6 38493528 38493528 single base substitution G T intron_variant LIRI-JP 6 38494180 38494180 single base substitution G C intron_variant LIRI-JP 6 38494502 38494502 single base substitution T A intron_variant LIRI-JP 6 38500465 38500465 single base substitution G A intron_variant LIRI-JP 6 38501113 38501113 single base substitution A G intron_variant LIRI-JP 6 38502846 38502846 single base substitution T C intron_variant LIRI-JP 6 38503429 38503429 single base substitution A G intron_variant LIRI-JP 6 38505095 38505095 single base substitution C T intron_variant LIRI-JP 6 38505483 38505483 single base substitution T G intron_variant LIRI-JP 6 38506007 38506007 single base substitution G A intron_variant LIRI-JP 6 38508698 38508698 single base substitution A G intron_variant LIRI-JP 6 38508909 38508909 single base substitution T C intron_variant LIRI-JP 6 38509091 38509091 single base substitution G A intron_variant LIRI-JP 6 38510669 38510669 single base substitution G A intron_variant LIRI-JP 6 38515216 38515216 single base substitution G A intron_variant LIRI-JP 6 38516400 38516400 single base substitution T C intron_variant LIRI-JP 6 38518860 38518860 single base substitution T A intron_variant LIRI-JP 6 38520750 38520750 single base substitution T C intron_variant LIRI-JP 6 38520875 38520875 single base substitution T C intron_variant LIRI-JP 6 38523905 38523905 single base substitution C T intron_variant LIRI-JP 6 38525975 38525975 single base substitution A C intron_variant LIRI-JP 6 38527832 38527832 single base substitution G T intron_variant LIRI-JP 6 38531324 38531324 single base substitution C A intron_variant LIRI-JP 6 38533110 38533110 single base substitution T A intron_variant LIRI-JP 6 38533327 38533327 single base substitution C T intron_variant LIRI-JP 6 38533571 38533571 single base substitution G A intron_variant LIRI-JP 6 38534125 38534125 deletion of <=200bp C - intron_variant LIRI-JP 6 38537232 38537232 single base substitution G A intron_variant LIRI-JP 6 38538346 38538346 single base substitution C G intron_variant LIRI-JP 6 38539112 38539112 single base substitution C T intron_variant LIRI-JP 6 38539715 38539715 single base substitution G C intron_variant LIRI-JP 6 38544248 38544248 single base substitution T C intron_variant LIRI-JP 6 38544732 38544732 single base substitution T G intron_variant LIRI-JP 6 38544919 38544919 single base substitution T C intron_variant LIRI-JP 6 38546524 38546524 single base substitution C G intron_variant LIRI-JP 6 38550306 38550306 single base substitution G A intron_variant LIRI-JP 6 38555277 38555277 single base substitution A C intron_variant LIRI-JP 6 38555339 38555339 insertion of <=200bp - TC intron_variant LIRI-JP 6 38559092 38559092 single base substitution T G downstream_gene_variant LIRI-JP 6 38559092 38559092 single base substitution T G intron_variant LIRI-JP 6 38561484 38561484 single base substitution C A downstream_gene_variant LIRI-JP 6 38561484 38561484 single base substitution C A intron_variant LIRI-JP 6 38565397 38565397 single base substitution G A intron_variant LIRI-JP 6 38565397 38565397 single base substitution G A upstream_gene_variant LIRI-JP 6 38565602 38565602 single base substitution T C intron_variant LIRI-JP 6 38565602 38565602 single base substitution T C upstream_gene_variant LIRI-JP 6 38566005 38566005 single base substitution C A intron_variant LIRI-JP 6 38566005 38566005 single base substitution C A upstream_gene_variant LIRI-JP 6 38567685 38567685 single base substitution C T intron_variant LIRI-JP 6 38567685 38567685 single base substitution C T upstream_gene_variant LIRI-JP 6 38571091 38571091 single base substitution T G intron_variant LIRI-JP 6 38571501 38571501 single base substitution T C intron_variant LIRI-JP 6 38571573 38571573 single base substitution T A intron_variant LIRI-JP 6 38573135 38573135 single base substitution T C intron_variant LIRI-JP 6 38573211 38573211 single base substitution T C intron_variant LIRI-JP 6 38574907 38574907 single base substitution G C intron_variant LIRI-JP 6 38578647 38578647 single base substitution T C intron_variant LIRI-JP 6 38579323 38579323 single base substitution T G intron_variant LIRI-JP 6 38579397 38579397 single base substitution C T intron_variant LIRI-JP 6 38584223 38584223 single base substitution C T intron_variant LIRI-JP 6 38585053 38585053 single base substitution C T intron_variant LIRI-JP 6 38586869 38586869 single base substitution A G intron_variant LIRI-JP 6 38587618 38587618 single base substitution T C intron_variant LIRI-JP 6 38587769 38587769 single base substitution G A intron_variant LIRI-JP 6 38590994 38590994 single base substitution C T intron_variant LIRI-JP 6 38591510 38591510 single base substitution C G intron_variant LIRI-JP 6 38591646 38591646 single base substitution G A intron_variant LIRI-JP 6 38594026 38594026 single base substitution T C intron_variant LIRI-JP 6 38594961 38594961 single base substitution A G intron_variant LIRI-JP 6 38601867 38601867 single base substitution A G intron_variant LIRI-JP 6 38605505 38605505 single base substitution C T intron_variant LIRI-JP 6 38606358 38606358 single base substitution C T intron_variant LIRI-JP 6 38607054 38607054 single base substitution C A intron_variant LIRI-JP 6 38607370 38607370 single base substitution G A intron_variant LIRI-JP 6 38608905 38608905 single base substitution G A upstream_gene_variant LIRI-JP 6 38610493 38610493 single base substitution G A upstream_gene_variant LIRI-JP 6 38610837 38610837 single base substitution T A upstream_gene_variant LIRI-JP 6 38612412 38612412 single base substitution T G upstream_gene_variant LUSC-KR 6 38133988 38133988 single base substitution G A downstream_gene_variant LUSC-KR 6 38136304 38136304 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 38136450 38136450 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 38138064 38138064 single base substitution G C 3_prime_UTR_variant LUSC-KR 6 38138064 38138064 single base substitution G C downstream_gene_variant LUSC-KR 6 38139482 38139482 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 38139482 38139482 single base substitution T C downstream_gene_variant LUSC-KR 6 38142316 38142316 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 38142316 38142316 single base substitution C T downstream_gene_variant LUSC-KR 6 38148603 38148603 single base substitution C T intron_variant LUSC-KR 6 38149557 38149557 single base substitution A G intron_variant LUSC-KR 6 38158057 38158057 single base substitution C A intron_variant LUSC-KR 6 38164515 38164515 single base substitution C A intron_variant LUSC-KR 6 38165463 38165463 single base substitution T G intron_variant LUSC-KR 6 38170146 38170146 single base substitution T C intron_variant LUSC-KR 6 38176226 38176226 single base substitution C T intron_variant LUSC-KR 6 38181977 38181977 single base substitution T C intron_variant LUSC-KR 6 38183587 38183587 single base substitution C G intron_variant LUSC-KR 6 38187970 38187970 single base substitution C G intron_variant LUSC-KR 6 38197585 38197585 single base substitution C T intron_variant LUSC-KR 6 38202598 38202598 single base substitution C G intron_variant LUSC-KR 6 38204160 38204160 single base substitution C T intron_variant LUSC-KR 6 38204806 38204806 single base substitution C G intron_variant LUSC-KR 6 38207889 38207889 single base substitution C T intron_variant LUSC-KR 6 38208404 38208404 single base substitution T A intron_variant LUSC-KR 6 38209545 38209545 single base substitution T C intron_variant LUSC-KR 6 38221086 38221086 single base substitution G C intron_variant LUSC-KR 6 38222518 38222518 single base substitution G T intron_variant LUSC-KR 6 38222622 38222622 single base substitution T C intron_variant LUSC-KR 6 38226573 38226573 single base substitution G A intron_variant LUSC-KR 6 38226980 38226980 single base substitution C G intron_variant LUSC-KR 6 38227398 38227398 single base substitution T C intron_variant LUSC-KR 6 38238102 38238102 single base substitution C A intron_variant LUSC-KR 6 38252280 38252280 single base substitution C A intron_variant LUSC-KR 6 38253390 38253390 single base substitution C T intron_variant LUSC-KR 6 38255174 38255174 single base substitution G T intron_variant LUSC-KR 6 38256563 38256563 single base substitution C G intron_variant LUSC-KR 6 38276691 38276691 single base substitution G C intron_variant LUSC-KR 6 38277516 38277516 single base substitution A C intron_variant LUSC-KR 6 38281544 38281544 single base substitution G T intron_variant LUSC-KR 6 38283763 38283763 single base substitution C G intron_variant LUSC-KR 6 38283874 38283874 single base substitution C T intron_variant LUSC-KR 6 38284957 38284957 single base substitution G C intron_variant LUSC-KR 6 38285400 38285400 single base substitution C G intron_variant LUSC-KR 6 38285468 38285468 single base substitution C T intron_variant LUSC-KR 6 38287329 38287329 single base substitution T C intron_variant LUSC-KR 6 38287987 38287987 single base substitution T C intron_variant LUSC-KR 6 38288183 38288183 single base substitution C G intron_variant LUSC-KR 6 38290649 38290649 single base substitution T C intron_variant LUSC-KR 6 38301048 38301048 single base substitution T G intron_variant LUSC-KR 6 38303204 38303204 single base substitution T C intron_variant LUSC-KR 6 38317475 38317475 single base substitution G C intron_variant LUSC-KR 6 38317999 38317999 single base substitution C G intron_variant LUSC-KR 6 38318346 38318346 single base substitution C G intron_variant LUSC-KR 6 38320596 38320596 single base substitution C A intron_variant LUSC-KR 6 38320598 38320598 single base substitution A C intron_variant LUSC-KR 6 38326692 38326692 single base substitution C A intron_variant LUSC-KR 6 38327885 38327885 single base substitution C A intron_variant LUSC-KR 6 38349789 38349789 single base substitution T G intron_variant LUSC-KR 6 38355702 38355702 single base substitution C G intron_variant LUSC-KR 6 38356425 38356425 single base substitution C T intron_variant LUSC-KR 6 38361013 38361013 single base substitution T C intron_variant LUSC-KR 6 38363157 38363157 single base substitution G A intron_variant LUSC-KR 6 38363873 38363873 single base substitution G A intron_variant LUSC-KR 6 38367626 38367626 single base substitution C G intron_variant LUSC-KR 6 38367725 38367725 single base substitution A T intron_variant LUSC-KR 6 38380318 38380318 single base substitution C G intron_variant LUSC-KR 6 38382713 38382713 single base substitution A T intron_variant LUSC-KR 6 38390668 38390668 single base substitution G A intron_variant LUSC-KR 6 38393035 38393035 single base substitution C A intron_variant LUSC-KR 6 38410650 38410650 single base substitution G C intron_variant LUSC-KR 6 38411398 38411398 single base substitution C A intron_variant LUSC-KR 6 38412198 38412198 single base substitution C G intron_variant LUSC-KR 6 38421348 38421348 single base substitution A G intron_variant LUSC-KR 6 38426962 38426962 single base substitution T G intron_variant LUSC-KR 6 38431404 38431404 single base substitution G T intron_variant LUSC-KR 6 38439369 38439369 single base substitution C A intron_variant LUSC-KR 6 38442487 38442487 single base substitution C T intron_variant LUSC-KR 6 38450853 38450853 single base substitution C A intron_variant LUSC-KR 6 38452359 38452359 single base substitution T C intron_variant LUSC-KR 6 38461983 38461983 single base substitution G A intron_variant LUSC-KR 6 38470804 38470804 single base substitution G A intron_variant LUSC-KR 6 38472681 38472681 single base substitution C T intron_variant LUSC-KR 6 38472832 38472832 single base substitution C T intron_variant LUSC-KR 6 38476686 38476686 single base substitution T A intron_variant LUSC-KR 6 38484997 38484997 single base substitution G C intron_variant LUSC-KR 6 38487783 38487783 single base substitution T C intron_variant LUSC-KR 6 38492955 38492955 single base substitution T A intron_variant LUSC-KR 6 38494706 38494706 single base substitution G A intron_variant LUSC-KR 6 38494816 38494816 single base substitution C G intron_variant LUSC-KR 6 38495200 38495200 single base substitution G C intron_variant LUSC-KR 6 38507431 38507431 single base substitution T C intron_variant LUSC-KR 6 38516951 38516951 single base substitution C T intron_variant LUSC-KR 6 38524558 38524558 single base substitution C T intron_variant LUSC-KR 6 38529197 38529197 single base substitution C T intron_variant LUSC-KR 6 38530210 38530210 single base substitution C A intron_variant LUSC-KR 6 38530474 38530474 single base substitution C G intron_variant LUSC-KR 6 38531228 38531228 single base substitution C T intron_variant LUSC-KR 6 38535454 38535454 single base substitution C G intron_variant LUSC-KR 6 38535925 38535925 single base substitution G T intron_variant LUSC-KR 6 38541481 38541481 single base substitution T C intron_variant LUSC-KR 6 38544185 38544185 single base substitution G C intron_variant LUSC-KR 6 38550728 38550728 single base substitution C A intron_variant LUSC-KR 6 38562208 38562208 single base substitution T C intron_variant LUSC-KR 6 38562208 38562208 single base substitution T C upstream_gene_variant LUSC-KR 6 38563468 38563468 single base substitution C A intron_variant LUSC-KR 6 38563468 38563468 single base substitution C A upstream_gene_variant LUSC-KR 6 38574174 38574174 single base substitution T C intron_variant LUSC-KR 6 38578052 38578052 single base substitution C G intron_variant LUSC-KR 6 38586275 38586275 single base substitution T A intron_variant LUSC-KR 6 38596773 38596773 single base substitution G C intron_variant LUSC-KR 6 38597241 38597241 single base substitution G A intron_variant LUSC-KR 6 38601990 38601990 single base substitution C A intron_variant LUSC-KR 6 38603675 38603675 single base substitution C T intron_variant LUSC-KR 6 38604727 38604727 single base substitution A T intron_variant LUSC-KR 6 38606878 38606878 single base substitution T C intron_variant LUSC-US 6 38560460 38560460 single base substitution G C downstream_gene_variant LUSC-US 6 38560460 38560460 single base substitution G C exon_variant LUSC-US 6 38560460 38560460 single base substitution G C missense_variant L168V 502C>G LUSC-US 6 38560460 38560460 single base substitution G C missense_variant L177V 529C>G LUSC-US 6 38560460 38560460 single base substitution G C missense_variant L236V 706C>G MALY-DE 6 38131570 38131571 deletion of <=200bp AC - downstream_gene_variant MALY-DE 6 38131643 38131643 single base substitution G C downstream_gene_variant MALY-DE 6 38138243 38138243 single base substitution C T 3_prime_UTR_variant MALY-DE 6 38138243 38138243 single base substitution C T downstream_gene_variant MALY-DE 6 38138453 38138453 single base substitution G A 3_prime_UTR_variant MALY-DE 6 38138453 38138453 single base substitution G A downstream_gene_variant MALY-DE 6 38139751 38139751 single base substitution C A 3_prime_UTR_variant MALY-DE 6 38139751 38139751 single base substitution C A downstream_gene_variant MALY-DE 6 38139963 38139963 single base substitution C G 3_prime_UTR_variant MALY-DE 6 38139963 38139963 single base substitution C G downstream_gene_variant MALY-DE 6 38140136 38140136 single base substitution C T 3_prime_UTR_variant MALY-DE 6 38140136 38140136 single base substitution C T downstream_gene_variant MALY-DE 6 38142003 38142003 single base substitution T C 3_prime_UTR_variant MALY-DE 6 38142003 38142003 single base substitution T C downstream_gene_variant MALY-DE 6 38143104 38143104 single base substitution C T intron_variant MALY-DE 6 38144034 38144034 single base substitution A C intron_variant MALY-DE 6 38146552 38146552 single base substitution C T intron_variant MALY-DE 6 38147813 38147813 single base substitution G T intron_variant MALY-DE 6 38150871 38150871 single base substitution T G intron_variant MALY-DE 6 38152451 38152451 single base substitution G A intron_variant MALY-DE 6 38171007 38171007 single base substitution A C intron_variant MALY-DE 6 38171206 38171206 single base substitution C G intron_variant MALY-DE 6 38171518 38171518 single base substitution T C intron_variant MALY-DE 6 38187793 38187793 single base substitution C T intron_variant MALY-DE 6 38195896 38195896 single base substitution G A intron_variant MALY-DE 6 38214238 38214239 deletion of <=200bp GT - intron_variant MALY-DE 6 38215003 38215003 single base substitution C G intron_variant MALY-DE 6 38215715 38215715 single base substitution T A intron_variant MALY-DE 6 38218741 38218741 single base substitution T C intron_variant MALY-DE 6 38218872 38218872 single base substitution T A intron_variant MALY-DE 6 38223185 38223185 single base substitution A G intron_variant MALY-DE 6 38225756 38225756 single base substitution A T intron_variant MALY-DE 6 38226337 38226337 single base substitution A C intron_variant MALY-DE 6 38227560 38227560 single base substitution G A intron_variant MALY-DE 6 38228314 38228314 deletion of <=200bp A - intron_variant MALY-DE 6 38229065 38229065 single base substitution T G intron_variant MALY-DE 6 38230653 38230653 single base substitution A G intron_variant MALY-DE 6 38264325 38264325 single base substitution C A intron_variant MALY-DE 6 38265114 38265114 single base substitution C T intron_variant MALY-DE 6 38276295 38276295 single base substitution A G intron_variant MALY-DE 6 38278198 38278198 deletion of <=200bp A - intron_variant MALY-DE 6 38278401 38278401 single base substitution T C intron_variant MALY-DE 6 38285845 38285845 insertion of <=200bp - C intron_variant MALY-DE 6 38286723 38286723 single base substitution T C intron_variant MALY-DE 6 38288361 38288361 single base substitution C A intron_variant MALY-DE 6 38289330 38289330 single base substitution T C intron_variant MALY-DE 6 38290989 38290989 single base substitution A C intron_variant MALY-DE 6 38295746 38295746 single base substitution G C intron_variant MALY-DE 6 38305850 38305850 single base substitution T C intron_variant MALY-DE 6 38312669 38312669 single base substitution T C intron_variant MALY-DE 6 38312738 38312738 single base substitution A G intron_variant MALY-DE 6 38313622 38313622 single base substitution T C intron_variant MALY-DE 6 38329078 38329078 single base substitution G A intron_variant MALY-DE 6 38339069 38339069 single base substitution G A intron_variant MALY-DE 6 38342084 38342085 deletion of <=200bp TA - intron_variant MALY-DE 6 38344427 38344427 single base substitution A C intron_variant MALY-DE 6 38344794 38344794 single base substitution C T intron_variant MALY-DE 6 38353973 38353973 single base substitution T G intron_variant MALY-DE 6 38362743 38362743 single base substitution A G intron_variant MALY-DE 6 38379779 38379779 single base substitution A C intron_variant MALY-DE 6 38390753 38390753 single base substitution T A intron_variant MALY-DE 6 38391144 38391144 single base substitution G A intron_variant MALY-DE 6 38401334 38401334 single base substitution A C intron_variant MALY-DE 6 38402390 38402390 single base substitution C A intron_variant MALY-DE 6 38409996 38409996 single base substitution G T intron_variant MALY-DE 6 38426725 38426725 single base substitution T G intron_variant MALY-DE 6 38436082 38436082 single base substitution C G intron_variant MALY-DE 6 38437386 38437386 single base substitution C T intron_variant MALY-DE 6 38447271 38447271 deletion of <=200bp A - intron_variant MALY-DE 6 38448487 38448487 single base substitution G A intron_variant MALY-DE 6 38450189 38450189 single base substitution T C intron_variant MALY-DE 6 38459883 38459883 single base substitution C T intron_variant MALY-DE 6 38461689 38461689 single base substitution T G intron_variant MALY-DE 6 38467041 38467041 single base substitution C T intron_variant MALY-DE 6 38468268 38468268 single base substitution T C intron_variant MALY-DE 6 38473403 38473403 deletion of <=200bp A - intron_variant MALY-DE 6 38480164 38480164 single base substitution T C intron_variant MALY-DE 6 38485694 38485695 deletion of <=200bp TG - intron_variant MALY-DE 6 38492383 38492383 single base substitution T A intron_variant MALY-DE 6 38497919 38497919 single base substitution C T intron_variant MALY-DE 6 38498039 38498039 single base substitution G A intron_variant MALY-DE 6 38513131 38513131 single base substitution G A intron_variant MALY-DE 6 38517363 38517363 deletion of <=200bp A - intron_variant MALY-DE 6 38519591 38519591 single base substitution G A intron_variant MALY-DE 6 38519672 38519675 deletion of <=200bp AAGG - intron_variant MALY-DE 6 38543364 38543364 single base substitution C A intron_variant MALY-DE 6 38545678 38545678 single base substitution A C intron_variant MALY-DE 6 38575546 38575546 insertion of <=200bp - A intron_variant MALY-DE 6 38582427 38582427 single base substitution G A intron_variant MALY-DE 6 38586126 38586126 single base substitution A G intron_variant MALY-DE 6 38592163 38592163 single base substitution C T intron_variant MALY-DE 6 38592598 38592598 single base substitution A G intron_variant MALY-DE 6 38594021 38594021 single base substitution A G intron_variant MALY-DE 6 38595522 38595522 single base substitution T A intron_variant MELA-AU 6 38131228 38131228 single base substitution C T downstream_gene_variant MELA-AU 6 38131338 38131338 single base substitution G A downstream_gene_variant MELA-AU 6 38131408 38131408 single base substitution C T downstream_gene_variant MELA-AU 6 38131521 38131521 single base substitution G A downstream_gene_variant MELA-AU 6 38131598 38131598 single base substitution C T downstream_gene_variant MELA-AU 6 38131923 38131923 single base substitution G T downstream_gene_variant MELA-AU 6 38132735 38132735 single base substitution G A downstream_gene_variant MELA-AU 6 38132876 38132876 single base substitution G T downstream_gene_variant MELA-AU 6 38135019 38135019 single base substitution C T downstream_gene_variant MELA-AU 6 38136538 38136539 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 38136642 38136642 single base substitution C T 3_prime_UTR_variant MELA-AU 6 38136695 38136695 single base substitution G A 3_prime_UTR_variant MELA-AU 6 38136812 38136813 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 6 38136879 38136879 single base substitution G A 3_prime_UTR_variant MELA-AU 6 38137968 38137968 single base substitution G A 3_prime_UTR_variant MELA-AU 6 38137968 38137968 single base substitution G A downstream_gene_variant MELA-AU 6 38138628 38138628 single base substitution G A 3_prime_UTR_variant MELA-AU 6 38138628 38138628 single base substitution G A downstream_gene_variant MELA-AU 6 38140073 38140073 single base substitution C T 3_prime_UTR_variant MELA-AU 6 38140073 38140073 single base substitution C T downstream_gene_variant MELA-AU 6 38140263 38140263 single base substitution C T 3_prime_UTR_variant MELA-AU 6 38140263 38140263 single base substitution C T downstream_gene_variant MELA-AU 6 38140570 38140570 single base substitution G A 3_prime_UTR_variant MELA-AU 6 38140570 38140570 single base substitution G A downstream_gene_variant MELA-AU 6 38140626 38140626 single base substitution G A 3_prime_UTR_variant MELA-AU 6 38140626 38140626 single base substitution G A downstream_gene_variant MELA-AU 6 38140700 38140700 single base substitution G A 3_prime_UTR_variant MELA-AU 6 38140700 38140700 single base substitution G A downstream_gene_variant MELA-AU 6 38141046 38141046 single base substitution A T 3_prime_UTR_variant MELA-AU 6 38141046 38141046 single base substitution A T downstream_gene_variant MELA-AU 6 38142624 38142624 single base substitution C T 3_prime_UTR_variant MELA-AU 6 38142624 38142624 single base substitution C T downstream_gene_variant MELA-AU 6 38142904 38142904 single base substitution C T 3_prime_UTR_variant MELA-AU 6 38142904 38142904 single base substitution C T missense_variant E498K 1492G>A MELA-AU 6 38142904 38142904 single base substitution C T missense_variant E536K 1606G>A MELA-AU 6 38142904 38142904 single base substitution C T missense_variant E566K 1696G>A MELA-AU 6 38143176 38143176 single base substitution C T intron_variant MELA-AU 6 38143865 38143865 single base substitution C T intron_variant MELA-AU 6 38144248 38144248 single base substitution T C intron_variant MELA-AU 6 38144310 38144310 single base substitution G A intron_variant MELA-AU 6 38144591 38144591 single base substitution C T intron_variant MELA-AU 6 38144826 38144826 single base substitution G A intron_variant MELA-AU 6 38144913 38144913 single base substitution G T intron_variant MELA-AU 6 38144984 38144984 single base substitution C T intron_variant MELA-AU 6 38145199 38145199 single base substitution A T intron_variant MELA-AU 6 38145356 38145357 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38145369 38145369 single base substitution G T intron_variant MELA-AU 6 38145982 38145982 single base substitution G A intron_variant MELA-AU 6 38146003 38146003 single base substitution G A intron_variant MELA-AU 6 38146301 38146301 single base substitution G A intron_variant MELA-AU 6 38146605 38146605 single base substitution C T intron_variant MELA-AU 6 38146646 38146646 single base substitution A G intron_variant MELA-AU 6 38146711 38146711 single base substitution C T intron_variant MELA-AU 6 38147161 38147161 single base substitution G A intron_variant MELA-AU 6 38147452 38147452 single base substitution G A intron_variant MELA-AU 6 38147650 38147650 single base substitution G A intron_variant MELA-AU 6 38149203 38149203 single base substitution C T intron_variant MELA-AU 6 38150028 38150028 single base substitution G A intron_variant MELA-AU 6 38151021 38151022 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 6 38151064 38151064 single base substitution C T intron_variant MELA-AU 6 38151077 38151077 single base substitution G A intron_variant MELA-AU 6 38151575 38151575 single base substitution C T intron_variant MELA-AU 6 38152166 38152166 single base substitution C A intron_variant MELA-AU 6 38152172 38152172 single base substitution G A intron_variant MELA-AU 6 38153648 38153648 single base substitution C T intron_variant MELA-AU 6 38153698 38153698 single base substitution C T intron_variant MELA-AU 6 38153702 38153702 single base substitution C T intron_variant MELA-AU 6 38153771 38153771 single base substitution C T intron_variant MELA-AU 6 38154296 38154296 single base substitution C T intron_variant MELA-AU 6 38154550 38154550 single base substitution G A intron_variant MELA-AU 6 38155082 38155082 single base substitution C T intron_variant MELA-AU 6 38155533 38155533 single base substitution T C intron_variant MELA-AU 6 38155598 38155598 single base substitution G A intron_variant MELA-AU 6 38155643 38155643 single base substitution G A intron_variant MELA-AU 6 38155892 38155892 single base substitution C T intron_variant MELA-AU 6 38155898 38155899 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38155968 38155968 single base substitution C T intron_variant MELA-AU 6 38156566 38156566 single base substitution G A intron_variant MELA-AU 6 38156583 38156583 single base substitution G A intron_variant MELA-AU 6 38157473 38157473 single base substitution G A intron_variant MELA-AU 6 38157640 38157640 single base substitution G A intron_variant MELA-AU 6 38157708 38157708 single base substitution C T intron_variant MELA-AU 6 38157818 38157818 single base substitution G A intron_variant MELA-AU 6 38158457 38158457 single base substitution G A intron_variant MELA-AU 6 38158637 38158637 single base substitution G A intron_variant MELA-AU 6 38158785 38158785 single base substitution G A intron_variant MELA-AU 6 38159552 38159552 single base substitution A T intron_variant MELA-AU 6 38159784 38159784 single base substitution C T intron_variant MELA-AU 6 38160057 38160057 single base substitution C T intron_variant MELA-AU 6 38160461 38160462 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38160688 38160688 single base substitution G A intron_variant MELA-AU 6 38160934 38160934 single base substitution C T intron_variant MELA-AU 6 38161076 38161076 single base substitution G A intron_variant MELA-AU 6 38161186 38161186 single base substitution C T intron_variant MELA-AU 6 38161770 38161770 single base substitution C T intron_variant MELA-AU 6 38161849 38161849 single base substitution C T intron_variant MELA-AU 6 38162041 38162041 single base substitution G A intron_variant MELA-AU 6 38162046 38162046 single base substitution G A intron_variant MELA-AU 6 38162410 38162410 single base substitution G A intron_variant MELA-AU 6 38162538 38162538 single base substitution C T intron_variant MELA-AU 6 38162676 38162676 single base substitution G A intron_variant MELA-AU 6 38164439 38164440 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38165008 38165008 single base substitution G A intron_variant MELA-AU 6 38165265 38165265 single base substitution G A intron_variant MELA-AU 6 38165270 38165270 single base substitution C G intron_variant MELA-AU 6 38165902 38165902 single base substitution G A intron_variant MELA-AU 6 38165957 38165957 single base substitution G A intron_variant MELA-AU 6 38166119 38166119 single base substitution G A intron_variant MELA-AU 6 38166704 38166704 single base substitution G A intron_variant MELA-AU 6 38166721 38166721 single base substitution C T intron_variant MELA-AU 6 38166863 38166863 single base substitution G A intron_variant MELA-AU 6 38167006 38167006 single base substitution C T intron_variant MELA-AU 6 38167157 38167157 single base substitution G A intron_variant MELA-AU 6 38167245 38167245 single base substitution G A intron_variant MELA-AU 6 38167246 38167246 single base substitution G A intron_variant MELA-AU 6 38167712 38167712 single base substitution C T intron_variant MELA-AU 6 38167839 38167839 single base substitution G A intron_variant MELA-AU 6 38167846 38167846 single base substitution G A intron_variant MELA-AU 6 38167934 38167934 single base substitution T A intron_variant MELA-AU 6 38167988 38167988 single base substitution G A intron_variant MELA-AU 6 38168004 38168004 single base substitution G A intron_variant MELA-AU 6 38168211 38168211 single base substitution G A intron_variant MELA-AU 6 38168223 38168223 single base substitution A G intron_variant MELA-AU 6 38168323 38168323 single base substitution C T intron_variant MELA-AU 6 38168773 38168773 single base substitution G A intron_variant MELA-AU 6 38168887 38168887 single base substitution G T intron_variant MELA-AU 6 38169006 38169006 single base substitution A T intron_variant MELA-AU 6 38169307 38169307 single base substitution A G intron_variant MELA-AU 6 38169661 38169661 single base substitution G A intron_variant MELA-AU 6 38169673 38169673 single base substitution C T intron_variant MELA-AU 6 38169682 38169682 single base substitution G A intron_variant MELA-AU 6 38169732 38169732 single base substitution G A intron_variant MELA-AU 6 38170009 38170009 single base substitution C G intron_variant MELA-AU 6 38170038 38170038 single base substitution T A intron_variant MELA-AU 6 38170255 38170255 single base substitution G A intron_variant MELA-AU 6 38171268 38171268 single base substitution C T intron_variant MELA-AU 6 38171380 38171381 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38171384 38171384 single base substitution G A intron_variant MELA-AU 6 38171544 38171544 single base substitution G A intron_variant MELA-AU 6 38171558 38171558 single base substitution G A intron_variant MELA-AU 6 38172521 38172521 single base substitution G A intron_variant MELA-AU 6 38172750 38172750 single base substitution G A intron_variant MELA-AU 6 38172944 38172944 single base substitution T G intron_variant MELA-AU 6 38173033 38173033 single base substitution G A intron_variant MELA-AU 6 38173204 38173204 single base substitution G A intron_variant MELA-AU 6 38173288 38173288 single base substitution C G intron_variant MELA-AU 6 38173302 38173302 single base substitution C T intron_variant MELA-AU 6 38173645 38173645 single base substitution G A intron_variant MELA-AU 6 38173754 38173754 single base substitution G A intron_variant MELA-AU 6 38174055 38174055 single base substitution G A intron_variant MELA-AU 6 38174090 38174090 single base substitution G A intron_variant MELA-AU 6 38174252 38174252 single base substitution C T intron_variant MELA-AU 6 38174712 38174712 single base substitution C A intron_variant MELA-AU 6 38174858 38174858 single base substitution G A intron_variant MELA-AU 6 38174918 38174918 single base substitution T A intron_variant MELA-AU 6 38175169 38175169 single base substitution G A intron_variant MELA-AU 6 38175556 38175556 single base substitution G A intron_variant MELA-AU 6 38175882 38175882 single base substitution G A intron_variant MELA-AU 6 38175918 38175918 single base substitution G A intron_variant MELA-AU 6 38175964 38175964 single base substitution G A intron_variant MELA-AU 6 38176161 38176161 single base substitution G A intron_variant MELA-AU 6 38176205 38176205 single base substitution C T intron_variant MELA-AU 6 38176897 38176897 single base substitution G A intron_variant MELA-AU 6 38176950 38176950 single base substitution C T intron_variant MELA-AU 6 38176956 38176956 single base substitution C T intron_variant MELA-AU 6 38176986 38176986 single base substitution C T intron_variant MELA-AU 6 38177360 38177361 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38178322 38178322 single base substitution G T intron_variant MELA-AU 6 38178435 38178435 single base substitution G A intron_variant MELA-AU 6 38179509 38179509 single base substitution G A intron_variant MELA-AU 6 38179934 38179934 single base substitution G A intron_variant MELA-AU 6 38183093 38183093 single base substitution C T intron_variant MELA-AU 6 38183798 38183798 single base substitution C T intron_variant MELA-AU 6 38184462 38184462 single base substitution G A intron_variant MELA-AU 6 38184525 38184525 single base substitution G A intron_variant MELA-AU 6 38184592 38184592 single base substitution G A intron_variant MELA-AU 6 38185074 38185074 single base substitution G A intron_variant MELA-AU 6 38185194 38185194 single base substitution G A intron_variant MELA-AU 6 38185410 38185410 single base substitution G A intron_variant MELA-AU 6 38185563 38185563 single base substitution G A intron_variant MELA-AU 6 38185576 38185576 single base substitution T C intron_variant MELA-AU 6 38185610 38185610 single base substitution G A intron_variant MELA-AU 6 38186976 38186976 single base substitution G A intron_variant MELA-AU 6 38187260 38187260 single base substitution T A intron_variant MELA-AU 6 38187916 38187916 single base substitution T C intron_variant MELA-AU 6 38188011 38188011 single base substitution T C intron_variant MELA-AU 6 38189818 38189818 single base substitution C T intron_variant MELA-AU 6 38190487 38190487 single base substitution G A intron_variant MELA-AU 6 38190650 38190650 single base substitution C T intron_variant MELA-AU 6 38190716 38190716 single base substitution C T intron_variant MELA-AU 6 38191334 38191334 single base substitution G A intron_variant MELA-AU 6 38191385 38191385 single base substitution T C intron_variant MELA-AU 6 38191533 38191533 single base substitution C T intron_variant MELA-AU 6 38192234 38192234 single base substitution T C intron_variant MELA-AU 6 38192300 38192300 single base substitution G A intron_variant MELA-AU 6 38192369 38192369 single base substitution G T intron_variant MELA-AU 6 38192375 38192375 single base substitution G A intron_variant MELA-AU 6 38192843 38192843 single base substitution G A intron_variant MELA-AU 6 38192847 38192847 single base substitution A C intron_variant MELA-AU 6 38193005 38193005 single base substitution G A intron_variant MELA-AU 6 38193092 38193092 single base substitution G A intron_variant MELA-AU 6 38193534 38193534 single base substitution G A intron_variant MELA-AU 6 38193768 38193768 single base substitution G A intron_variant MELA-AU 6 38193953 38193953 single base substitution G A intron_variant MELA-AU 6 38194288 38194288 single base substitution T A intron_variant MELA-AU 6 38194315 38194315 single base substitution G A intron_variant MELA-AU 6 38194726 38194726 single base substitution G A intron_variant MELA-AU 6 38194815 38194815 single base substitution G A intron_variant MELA-AU 6 38194819 38194819 single base substitution C G intron_variant MELA-AU 6 38194897 38194897 single base substitution G A intron_variant MELA-AU 6 38195020 38195020 single base substitution T C intron_variant MELA-AU 6 38195456 38195456 single base substitution C T intron_variant MELA-AU 6 38195561 38195561 single base substitution C T intron_variant MELA-AU 6 38195906 38195907 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38196283 38196283 single base substitution G A intron_variant MELA-AU 6 38196363 38196363 single base substitution G A intron_variant MELA-AU 6 38196604 38196604 single base substitution C T intron_variant MELA-AU 6 38196799 38196799 single base substitution C T intron_variant MELA-AU 6 38197142 38197142 single base substitution G A intron_variant MELA-AU 6 38197256 38197256 single base substitution C T intron_variant MELA-AU 6 38197856 38197856 single base substitution C T intron_variant MELA-AU 6 38197871 38197871 single base substitution T A intron_variant MELA-AU 6 38197918 38197918 single base substitution C T intron_variant MELA-AU 6 38198019 38198019 single base substitution C T intron_variant MELA-AU 6 38198181 38198181 single base substitution G A intron_variant MELA-AU 6 38198244 38198244 single base substitution C T intron_variant MELA-AU 6 38198349 38198349 single base substitution C T intron_variant MELA-AU 6 38198450 38198450 single base substitution C T intron_variant MELA-AU 6 38198847 38198847 single base substitution T G intron_variant MELA-AU 6 38199422 38199422 single base substitution G A intron_variant MELA-AU 6 38199720 38199720 single base substitution G A intron_variant MELA-AU 6 38200317 38200317 single base substitution G A intron_variant MELA-AU 6 38200519 38200519 single base substitution C T intron_variant MELA-AU 6 38200689 38200689 single base substitution A T intron_variant MELA-AU 6 38200802 38200802 single base substitution G A intron_variant MELA-AU 6 38200812 38200812 single base substitution C T intron_variant MELA-AU 6 38200832 38200832 single base substitution G A intron_variant MELA-AU 6 38200848 38200848 single base substitution T C intron_variant MELA-AU 6 38200925 38200925 single base substitution C T intron_variant MELA-AU 6 38201031 38201031 single base substitution C T intron_variant MELA-AU 6 38201054 38201054 single base substitution G A intron_variant MELA-AU 6 38201308 38201308 single base substitution G A intron_variant MELA-AU 6 38201897 38201897 single base substitution C T intron_variant MELA-AU 6 38202677 38202677 single base substitution C T intron_variant MELA-AU 6 38202793 38202793 single base substitution G A intron_variant MELA-AU 6 38202899 38202899 single base substitution C T intron_variant MELA-AU 6 38203725 38203725 single base substitution G A intron_variant MELA-AU 6 38203752 38203752 single base substitution G A intron_variant MELA-AU 6 38203886 38203887 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38203983 38203983 single base substitution C T intron_variant MELA-AU 6 38204066 38204066 single base substitution C T intron_variant MELA-AU 6 38204383 38204383 single base substitution C T intron_variant MELA-AU 6 38204490 38204491 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 6 38204762 38204762 single base substitution C T intron_variant MELA-AU 6 38205086 38205086 single base substitution G A intron_variant MELA-AU 6 38205255 38205255 single base substitution G A intron_variant MELA-AU 6 38206067 38206067 single base substitution G A intron_variant MELA-AU 6 38206246 38206246 single base substitution G A intron_variant MELA-AU 6 38206312 38206312 single base substitution G A intron_variant MELA-AU 6 38207170 38207170 single base substitution C T intron_variant MELA-AU 6 38207387 38207387 single base substitution C A intron_variant MELA-AU 6 38207448 38207448 single base substitution G A intron_variant MELA-AU 6 38207599 38207599 single base substitution G A intron_variant MELA-AU 6 38207763 38207763 single base substitution G A intron_variant MELA-AU 6 38207850 38207850 single base substitution G A intron_variant MELA-AU 6 38208370 38208370 single base substitution C A intron_variant MELA-AU 6 38208972 38208972 single base substitution G A intron_variant MELA-AU 6 38209668 38209668 single base substitution G A intron_variant MELA-AU 6 38209717 38209717 single base substitution A G intron_variant MELA-AU 6 38209853 38209853 single base substitution G A intron_variant MELA-AU 6 38209979 38209979 single base substitution G A intron_variant MELA-AU 6 38210170 38210170 single base substitution G A intron_variant MELA-AU 6 38210183 38210183 single base substitution G A intron_variant MELA-AU 6 38210420 38210420 single base substitution C T intron_variant MELA-AU 6 38210496 38210496 single base substitution G A intron_variant MELA-AU 6 38210609 38210609 single base substitution C T intron_variant MELA-AU 6 38210693 38210693 single base substitution G T intron_variant MELA-AU 6 38210980 38210980 single base substitution A C intron_variant MELA-AU 6 38211035 38211035 single base substitution A T intron_variant MELA-AU 6 38211135 38211135 single base substitution C T intron_variant MELA-AU 6 38211205 38211205 single base substitution C T intron_variant MELA-AU 6 38212059 38212059 single base substitution G A intron_variant MELA-AU 6 38212183 38212183 single base substitution C T intron_variant MELA-AU 6 38212462 38212463 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38212675 38212675 single base substitution C T intron_variant MELA-AU 6 38212978 38212978 single base substitution A T intron_variant MELA-AU 6 38212986 38212986 single base substitution T C intron_variant MELA-AU 6 38213282 38213282 single base substitution G A intron_variant MELA-AU 6 38213760 38213760 single base substitution G A intron_variant MELA-AU 6 38213830 38213830 single base substitution C T intron_variant MELA-AU 6 38214253 38214277 deletion of <=200bp TATTGTCTAAAATCTGCTATTTTCT - intron_variant MELA-AU 6 38214387 38214387 single base substitution A G intron_variant MELA-AU 6 38214732 38214732 single base substitution C T intron_variant MELA-AU 6 38215300 38215300 single base substitution G A intron_variant MELA-AU 6 38215514 38215514 single base substitution T A intron_variant MELA-AU 6 38215575 38215575 single base substitution G A intron_variant MELA-AU 6 38215850 38215850 single base substitution C T intron_variant MELA-AU 6 38215938 38215939 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38215997 38215997 single base substitution G A intron_variant MELA-AU 6 38216016 38216016 single base substitution G A intron_variant MELA-AU 6 38216125 38216125 single base substitution G A intron_variant MELA-AU 6 38216156 38216156 single base substitution T G intron_variant MELA-AU 6 38216685 38216685 single base substitution T C intron_variant MELA-AU 6 38216744 38216744 single base substitution G A intron_variant MELA-AU 6 38217049 38217049 single base substitution G A intron_variant MELA-AU 6 38217185 38217185 single base substitution A C intron_variant MELA-AU 6 38217234 38217234 single base substitution G A intron_variant MELA-AU 6 38217484 38217484 single base substitution G A intron_variant MELA-AU 6 38217495 38217495 single base substitution T C intron_variant MELA-AU 6 38218102 38218102 single base substitution G A intron_variant MELA-AU 6 38218311 38218311 single base substitution G A intron_variant MELA-AU 6 38218765 38218765 single base substitution G A intron_variant MELA-AU 6 38218772 38218772 single base substitution C T intron_variant MELA-AU 6 38218876 38218876 single base substitution A G intron_variant MELA-AU 6 38219261 38219261 single base substitution G A intron_variant MELA-AU 6 38219267 38219267 single base substitution C T intron_variant MELA-AU 6 38219310 38219310 single base substitution G T intron_variant MELA-AU 6 38220713 38220713 single base substitution T C intron_variant MELA-AU 6 38220765 38220765 single base substitution C T intron_variant MELA-AU 6 38221217 38221217 single base substitution C T intron_variant MELA-AU 6 38221300 38221300 single base substitution G A intron_variant MELA-AU 6 38221449 38221449 single base substitution G A intron_variant MELA-AU 6 38221552 38221552 single base substitution G A intron_variant MELA-AU 6 38221575 38221575 single base substitution C T intron_variant MELA-AU 6 38221649 38221649 single base substitution G A intron_variant MELA-AU 6 38221727 38221727 single base substitution G A intron_variant MELA-AU 6 38221992 38221992 single base substitution G A intron_variant MELA-AU 6 38222431 38222431 single base substitution G A intron_variant MELA-AU 6 38222633 38222633 single base substitution C T intron_variant MELA-AU 6 38222864 38222864 single base substitution G A intron_variant MELA-AU 6 38223053 38223053 single base substitution G A intron_variant MELA-AU 6 38223087 38223087 single base substitution G A intron_variant MELA-AU 6 38223465 38223465 single base substitution G A intron_variant MELA-AU 6 38223666 38223666 single base substitution G A intron_variant MELA-AU 6 38224809 38224809 single base substitution C T intron_variant MELA-AU 6 38224984 38224984 single base substitution G A intron_variant MELA-AU 6 38225014 38225014 single base substitution C T intron_variant MELA-AU 6 38225071 38225071 single base substitution C T intron_variant MELA-AU 6 38225825 38225825 single base substitution G A intron_variant MELA-AU 6 38225832 38225832 single base substitution G A intron_variant MELA-AU 6 38226245 38226245 single base substitution G A intron_variant MELA-AU 6 38226443 38226443 single base substitution G A intron_variant MELA-AU 6 38226586 38226586 single base substitution A G intron_variant MELA-AU 6 38227518 38227518 single base substitution A G intron_variant MELA-AU 6 38227893 38227893 single base substitution G A intron_variant MELA-AU 6 38227990 38227990 single base substitution G A intron_variant MELA-AU 6 38228032 38228032 single base substitution A T intron_variant MELA-AU 6 38228056 38228056 single base substitution C G intron_variant MELA-AU 6 38228125 38228125 single base substitution G A intron_variant MELA-AU 6 38228292 38228292 single base substitution G A intron_variant MELA-AU 6 38228709 38228709 single base substitution G A intron_variant MELA-AU 6 38228740 38228740 single base substitution G A intron_variant MELA-AU 6 38228881 38228881 single base substitution G A intron_variant MELA-AU 6 38229815 38229815 single base substitution C T intron_variant MELA-AU 6 38230088 38230088 single base substitution G A intron_variant MELA-AU 6 38230131 38230131 single base substitution A T intron_variant MELA-AU 6 38230364 38230364 single base substitution C T intron_variant MELA-AU 6 38230582 38230582 single base substitution C T intron_variant MELA-AU 6 38230919 38230919 single base substitution C T intron_variant MELA-AU 6 38231478 38231478 single base substitution G A intron_variant MELA-AU 6 38231677 38231677 single base substitution T G intron_variant MELA-AU 6 38231755 38231755 single base substitution G A intron_variant MELA-AU 6 38231830 38231830 single base substitution A G intron_variant MELA-AU 6 38232023 38232023 single base substitution G A intron_variant MELA-AU 6 38232456 38232456 single base substitution G A intron_variant MELA-AU 6 38232867 38232867 single base substitution G A intron_variant MELA-AU 6 38233049 38233049 single base substitution G A intron_variant MELA-AU 6 38233702 38233702 single base substitution T C intron_variant MELA-AU 6 38234422 38234422 single base substitution G A intron_variant MELA-AU 6 38234494 38234494 single base substitution G A intron_variant MELA-AU 6 38235004 38235004 single base substitution C T intron_variant MELA-AU 6 38235149 38235149 single base substitution G A intron_variant MELA-AU 6 38235395 38235395 single base substitution A C intron_variant MELA-AU 6 38235428 38235428 single base substitution G A intron_variant MELA-AU 6 38235485 38235485 single base substitution G A intron_variant MELA-AU 6 38235745 38235745 single base substitution G A intron_variant MELA-AU 6 38235817 38235817 single base substitution T C intron_variant MELA-AU 6 38236222 38236222 single base substitution G A intron_variant MELA-AU 6 38236495 38236495 single base substitution C T intron_variant MELA-AU 6 38236684 38236684 single base substitution G A intron_variant MELA-AU 6 38237086 38237086 single base substitution C T intron_variant MELA-AU 6 38237487 38237487 single base substitution C T intron_variant MELA-AU 6 38238434 38238434 single base substitution G A intron_variant MELA-AU 6 38239215 38239215 single base substitution G A intron_variant MELA-AU 6 38239507 38239507 single base substitution G A intron_variant MELA-AU 6 38240391 38240391 single base substitution G A intron_variant MELA-AU 6 38241201 38241201 single base substitution G A intron_variant MELA-AU 6 38241490 38241490 single base substitution T G intron_variant MELA-AU 6 38241514 38241514 single base substitution C T intron_variant MELA-AU 6 38241831 38241831 single base substitution G A intron_variant MELA-AU 6 38242327 38242327 single base substitution C T intron_variant MELA-AU 6 38242953 38242953 single base substitution C G intron_variant MELA-AU 6 38243599 38243599 single base substitution G A intron_variant MELA-AU 6 38243613 38243613 single base substitution G A intron_variant MELA-AU 6 38243894 38243894 single base substitution G A intron_variant MELA-AU 6 38243930 38243930 single base substitution G A intron_variant MELA-AU 6 38244146 38244146 single base substitution G A intron_variant MELA-AU 6 38244301 38244301 single base substitution G A intron_variant MELA-AU 6 38244556 38244556 single base substitution C T intron_variant MELA-AU 6 38245374 38245374 single base substitution C T intron_variant MELA-AU 6 38245878 38245878 single base substitution C T intron_variant MELA-AU 6 38246024 38246024 single base substitution G A intron_variant MELA-AU 6 38246155 38246155 single base substitution G A intron_variant MELA-AU 6 38246244 38246244 single base substitution G A intron_variant MELA-AU 6 38246380 38246380 single base substitution G A intron_variant MELA-AU 6 38246643 38246643 single base substitution G A intron_variant MELA-AU 6 38246650 38246650 single base substitution C T intron_variant MELA-AU 6 38247040 38247040 single base substitution G A intron_variant MELA-AU 6 38247129 38247129 single base substitution C T intron_variant MELA-AU 6 38247549 38247549 single base substitution T C intron_variant MELA-AU 6 38247659 38247659 single base substitution G A intron_variant MELA-AU 6 38247811 38247811 single base substitution C T intron_variant MELA-AU 6 38249657 38249657 single base substitution C T intron_variant MELA-AU 6 38250051 38250051 single base substitution C T intron_variant MELA-AU 6 38250110 38250110 single base substitution C T intron_variant MELA-AU 6 38250250 38250250 single base substitution G A intron_variant MELA-AU 6 38250541 38250541 single base substitution C T intron_variant MELA-AU 6 38250833 38250833 single base substitution G A intron_variant MELA-AU 6 38250957 38250957 single base substitution G A intron_variant MELA-AU 6 38251348 38251348 single base substitution C T intron_variant MELA-AU 6 38251590 38251590 single base substitution G A intron_variant MELA-AU 6 38251731 38251731 single base substitution C T intron_variant MELA-AU 6 38251748 38251748 single base substitution T C intron_variant MELA-AU 6 38252089 38252089 single base substitution G A intron_variant MELA-AU 6 38252345 38252345 single base substitution C T intron_variant MELA-AU 6 38252393 38252393 single base substitution G A intron_variant MELA-AU 6 38252511 38252511 single base substitution T A intron_variant MELA-AU 6 38252513 38252513 single base substitution A T intron_variant MELA-AU 6 38253245 38253245 single base substitution T A intron_variant MELA-AU 6 38253301 38253301 single base substitution G A intron_variant MELA-AU 6 38253306 38253306 single base substitution G A intron_variant MELA-AU 6 38253334 38253334 single base substitution G A intron_variant MELA-AU 6 38253557 38253557 single base substitution G A intron_variant MELA-AU 6 38253676 38253676 single base substitution G A intron_variant MELA-AU 6 38254050 38254050 single base substitution C T intron_variant MELA-AU 6 38254054 38254054 single base substitution G A intron_variant MELA-AU 6 38254365 38254365 single base substitution A T intron_variant MELA-AU 6 38254679 38254679 single base substitution G A intron_variant MELA-AU 6 38254722 38254722 single base substitution G A intron_variant MELA-AU 6 38254785 38254785 single base substitution G A intron_variant MELA-AU 6 38255609 38255609 single base substitution G A intron_variant MELA-AU 6 38255621 38255621 single base substitution G A intron_variant MELA-AU 6 38255837 38255837 single base substitution A G intron_variant MELA-AU 6 38255852 38255852 single base substitution C T intron_variant MELA-AU 6 38255861 38255861 single base substitution A T intron_variant MELA-AU 6 38255906 38255906 single base substitution G A intron_variant MELA-AU 6 38255970 38255970 single base substitution G A intron_variant MELA-AU 6 38256043 38256043 single base substitution C T splice_region_variant MELA-AU 6 38256186 38256186 single base substitution C T 3_prime_UTR_variant MELA-AU 6 38256186 38256186 single base substitution C T missense_variant G371E 1112G>A MELA-AU 6 38256186 38256186 single base substitution C T missense_variant G409E 1226G>A MELA-AU 6 38256186 38256186 single base substitution C T missense_variant G439E 1316G>A MELA-AU 6 38256364 38256364 single base substitution G A intron_variant MELA-AU 6 38256372 38256372 single base substitution T C intron_variant MELA-AU 6 38256431 38256431 single base substitution G A intron_variant MELA-AU 6 38256839 38256839 single base substitution G A intron_variant MELA-AU 6 38257630 38257630 single base substitution G A intron_variant MELA-AU 6 38258064 38258064 single base substitution G A intron_variant MELA-AU 6 38258183 38258183 single base substitution G A intron_variant MELA-AU 6 38258287 38258287 single base substitution C T intron_variant MELA-AU 6 38258380 38258380 single base substitution G A intron_variant MELA-AU 6 38258831 38258831 single base substitution A C intron_variant MELA-AU 6 38259160 38259160 single base substitution G A intron_variant MELA-AU 6 38259161 38259161 single base substitution A T intron_variant MELA-AU 6 38259481 38259481 single base substitution G A intron_variant MELA-AU 6 38259836 38259836 single base substitution C T intron_variant MELA-AU 6 38259939 38259939 single base substitution C T intron_variant MELA-AU 6 38260009 38260009 single base substitution G A intron_variant MELA-AU 6 38260083 38260083 single base substitution G A intron_variant MELA-AU 6 38260436 38260436 single base substitution G A intron_variant MELA-AU 6 38260572 38260572 single base substitution G A intron_variant MELA-AU 6 38260986 38260986 single base substitution G A intron_variant MELA-AU 6 38261347 38261347 single base substitution G A intron_variant MELA-AU 6 38261450 38261450 single base substitution G A intron_variant MELA-AU 6 38261497 38261497 single base substitution G A intron_variant MELA-AU 6 38261560 38261560 single base substitution G A intron_variant MELA-AU 6 38261730 38261730 single base substitution G A intron_variant MELA-AU 6 38261838 38261838 single base substitution G A intron_variant MELA-AU 6 38261839 38261839 single base substitution A C intron_variant MELA-AU 6 38261880 38261880 single base substitution C T intron_variant MELA-AU 6 38262403 38262403 single base substitution G A intron_variant MELA-AU 6 38262491 38262491 single base substitution T A intron_variant MELA-AU 6 38262897 38262897 single base substitution C G intron_variant MELA-AU 6 38263156 38263156 single base substitution G A intron_variant MELA-AU 6 38263201 38263201 single base substitution C T intron_variant MELA-AU 6 38263973 38263973 single base substitution C T intron_variant MELA-AU 6 38264150 38264150 single base substitution C T intron_variant MELA-AU 6 38264288 38264288 single base substitution A G intron_variant MELA-AU 6 38264466 38264466 single base substitution G A intron_variant MELA-AU 6 38264627 38264627 single base substitution G A intron_variant MELA-AU 6 38264757 38264757 single base substitution G A intron_variant MELA-AU 6 38264910 38264910 single base substitution G A intron_variant MELA-AU 6 38265447 38265447 single base substitution A T intron_variant MELA-AU 6 38265853 38265853 single base substitution G A intron_variant MELA-AU 6 38265953 38265953 single base substitution G A intron_variant MELA-AU 6 38265971 38265971 single base substitution C T intron_variant MELA-AU 6 38266164 38266164 single base substitution T C intron_variant MELA-AU 6 38267046 38267046 single base substitution G A intron_variant MELA-AU 6 38267822 38267822 single base substitution G A intron_variant MELA-AU 6 38267997 38267997 single base substitution C T intron_variant MELA-AU 6 38268137 38268137 single base substitution G A intron_variant MELA-AU 6 38268166 38268166 single base substitution G T intron_variant MELA-AU 6 38268222 38268222 single base substitution G A intron_variant MELA-AU 6 38268949 38268949 single base substitution C T intron_variant MELA-AU 6 38269589 38269589 single base substitution C T intron_variant MELA-AU 6 38270815 38270815 single base substitution A G intron_variant MELA-AU 6 38271059 38271059 single base substitution T C intron_variant MELA-AU 6 38271610 38271610 single base substitution T C intron_variant MELA-AU 6 38271928 38271928 single base substitution G A intron_variant MELA-AU 6 38272111 38272111 single base substitution C T intron_variant MELA-AU 6 38272336 38272336 single base substitution A C intron_variant MELA-AU 6 38272337 38272337 single base substitution A C intron_variant MELA-AU 6 38272496 38272496 single base substitution C T intron_variant MELA-AU 6 38272844 38272844 single base substitution G A intron_variant MELA-AU 6 38273706 38273706 single base substitution G A intron_variant MELA-AU 6 38273730 38273730 single base substitution C T intron_variant MELA-AU 6 38274537 38274537 single base substitution C T intron_variant MELA-AU 6 38274958 38274958 single base substitution C T intron_variant MELA-AU 6 38275046 38275046 single base substitution C A intron_variant MELA-AU 6 38275384 38275384 single base substitution G A intron_variant MELA-AU 6 38275634 38275634 insertion of <=200bp - A intron_variant MELA-AU 6 38276188 38276188 single base substitution A G intron_variant MELA-AU 6 38276648 38276648 single base substitution C T intron_variant MELA-AU 6 38276794 38276794 single base substitution G A intron_variant MELA-AU 6 38277182 38277182 single base substitution G A intron_variant MELA-AU 6 38277426 38277426 single base substitution A C intron_variant MELA-AU 6 38277457 38277457 single base substitution G A intron_variant MELA-AU 6 38277469 38277469 single base substitution G A intron_variant MELA-AU 6 38277508 38277508 single base substitution G A intron_variant MELA-AU 6 38277997 38277997 single base substitution A G intron_variant MELA-AU 6 38278490 38278490 single base substitution G A intron_variant MELA-AU 6 38278777 38278777 single base substitution G A intron_variant MELA-AU 6 38279425 38279425 single base substitution A G intron_variant MELA-AU 6 38279762 38279762 single base substitution T C intron_variant MELA-AU 6 38279966 38279966 single base substitution T C intron_variant MELA-AU 6 38280045 38280045 single base substitution C T intron_variant MELA-AU 6 38280402 38280402 single base substitution G A intron_variant MELA-AU 6 38280451 38280451 single base substitution G A intron_variant MELA-AU 6 38280475 38280475 single base substitution G A intron_variant MELA-AU 6 38280741 38280741 single base substitution G A intron_variant MELA-AU 6 38281233 38281233 single base substitution C G intron_variant MELA-AU 6 38282006 38282006 single base substitution C T intron_variant MELA-AU 6 38282277 38282277 single base substitution C T intron_variant MELA-AU 6 38283002 38283002 single base substitution G A intron_variant MELA-AU 6 38283094 38283094 single base substitution G A intron_variant MELA-AU 6 38283245 38283245 single base substitution G A intron_variant MELA-AU 6 38283321 38283321 single base substitution C T intron_variant MELA-AU 6 38284185 38284185 insertion of <=200bp - T intron_variant MELA-AU 6 38284368 38284368 single base substitution C T intron_variant MELA-AU 6 38284390 38284390 single base substitution C T intron_variant MELA-AU 6 38284431 38284431 single base substitution C T intron_variant MELA-AU 6 38284558 38284558 single base substitution G A intron_variant MELA-AU 6 38284572 38284572 single base substitution C T intron_variant MELA-AU 6 38284807 38284807 single base substitution C T intron_variant MELA-AU 6 38285102 38285102 single base substitution C T intron_variant MELA-AU 6 38285611 38285611 single base substitution C T intron_variant MELA-AU 6 38285954 38285954 single base substitution A G intron_variant MELA-AU 6 38286204 38286204 single base substitution G A intron_variant MELA-AU 6 38286913 38286913 single base substitution G A intron_variant MELA-AU 6 38286947 38286947 single base substitution G A intron_variant MELA-AU 6 38287064 38287064 single base substitution T C intron_variant MELA-AU 6 38287295 38287295 single base substitution G A intron_variant MELA-AU 6 38288962 38288962 single base substitution G A intron_variant MELA-AU 6 38289071 38289071 single base substitution G A intron_variant MELA-AU 6 38289199 38289199 single base substitution G A intron_variant MELA-AU 6 38289302 38289302 single base substitution G A intron_variant MELA-AU 6 38289766 38289766 single base substitution A G intron_variant MELA-AU 6 38290252 38290252 single base substitution G A intron_variant MELA-AU 6 38290725 38290725 single base substitution A T intron_variant MELA-AU 6 38290923 38290923 single base substitution G A intron_variant MELA-AU 6 38291663 38291663 single base substitution C T intron_variant MELA-AU 6 38291697 38291697 single base substitution G A intron_variant MELA-AU 6 38292047 38292047 single base substitution T C intron_variant MELA-AU 6 38292190 38292190 single base substitution T A intron_variant MELA-AU 6 38292615 38292615 single base substitution G A intron_variant MELA-AU 6 38293048 38293048 single base substitution G A intron_variant MELA-AU 6 38293986 38293986 single base substitution G A intron_variant MELA-AU 6 38294059 38294059 single base substitution G A intron_variant MELA-AU 6 38294229 38294229 single base substitution G A intron_variant MELA-AU 6 38294356 38294356 single base substitution G A intron_variant MELA-AU 6 38294567 38294567 single base substitution G A intron_variant MELA-AU 6 38294679 38294679 single base substitution C T intron_variant MELA-AU 6 38295108 38295108 single base substitution G C intron_variant MELA-AU 6 38295149 38295149 single base substitution G A intron_variant MELA-AU 6 38295644 38295644 single base substitution G A intron_variant MELA-AU 6 38297087 38297087 single base substitution G T intron_variant MELA-AU 6 38297223 38297223 single base substitution G A intron_variant MELA-AU 6 38297636 38297636 single base substitution G A intron_variant MELA-AU 6 38298015 38298015 single base substitution G A intron_variant MELA-AU 6 38298067 38298067 single base substitution G A intron_variant MELA-AU 6 38298160 38298160 single base substitution G A intron_variant MELA-AU 6 38298572 38298572 single base substitution A C intron_variant MELA-AU 6 38298700 38298700 single base substitution A G intron_variant MELA-AU 6 38299978 38299978 single base substitution G A intron_variant MELA-AU 6 38300057 38300057 single base substitution C T intron_variant MELA-AU 6 38300495 38300495 single base substitution G A intron_variant MELA-AU 6 38300645 38300645 single base substitution G A intron_variant MELA-AU 6 38301246 38301246 single base substitution C T intron_variant MELA-AU 6 38301326 38301326 single base substitution G A intron_variant MELA-AU 6 38301429 38301429 single base substitution C T intron_variant MELA-AU 6 38301514 38301514 single base substitution A G intron_variant MELA-AU 6 38301585 38301585 single base substitution G A intron_variant MELA-AU 6 38301586 38301586 single base substitution G A intron_variant MELA-AU 6 38301770 38301770 single base substitution T C intron_variant MELA-AU 6 38301779 38301779 single base substitution G A intron_variant MELA-AU 6 38302124 38302124 single base substitution G A intron_variant MELA-AU 6 38302537 38302537 single base substitution G A intron_variant MELA-AU 6 38302647 38302647 single base substitution G A intron_variant MELA-AU 6 38302734 38302734 single base substitution G A intron_variant MELA-AU 6 38302778 38302778 single base substitution C T intron_variant MELA-AU 6 38302792 38302792 single base substitution C T intron_variant MELA-AU 6 38302919 38302919 single base substitution T A intron_variant MELA-AU 6 38303288 38303288 single base substitution C A intron_variant MELA-AU 6 38303311 38303311 single base substitution G A intron_variant MELA-AU 6 38303534 38303534 single base substitution G A intron_variant MELA-AU 6 38303606 38303606 single base substitution T C intron_variant MELA-AU 6 38303624 38303624 single base substitution C T intron_variant MELA-AU 6 38303898 38303898 single base substitution G A intron_variant MELA-AU 6 38304071 38304071 single base substitution G A intron_variant MELA-AU 6 38304111 38304111 single base substitution A C intron_variant MELA-AU 6 38304562 38304562 single base substitution G A intron_variant MELA-AU 6 38304806 38304806 single base substitution G A intron_variant MELA-AU 6 38304904 38304905 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 6 38304927 38304927 single base substitution T A intron_variant MELA-AU 6 38305196 38305196 single base substitution T A intron_variant MELA-AU 6 38305324 38305324 single base substitution G A intron_variant MELA-AU 6 38305464 38305465 multiple base substitution (>=2bp and <=200bp) GA TC intron_variant MELA-AU 6 38305686 38305686 single base substitution G A intron_variant MELA-AU 6 38306056 38306056 single base substitution G A intron_variant MELA-AU 6 38306182 38306182 single base substitution G A intron_variant MELA-AU 6 38306336 38306336 single base substitution A C intron_variant MELA-AU 6 38306405 38306405 single base substitution G A intron_variant MELA-AU 6 38306455 38306455 single base substitution C T intron_variant MELA-AU 6 38306764 38306764 single base substitution A T intron_variant MELA-AU 6 38306780 38306780 single base substitution A T intron_variant MELA-AU 6 38306798 38306798 single base substitution A T intron_variant MELA-AU 6 38306903 38306903 single base substitution G A intron_variant MELA-AU 6 38306926 38306926 single base substitution A T intron_variant MELA-AU 6 38307467 38307467 single base substitution G A intron_variant MELA-AU 6 38308183 38308183 single base substitution G A intron_variant MELA-AU 6 38308459 38308459 single base substitution G A intron_variant MELA-AU 6 38308529 38308529 single base substitution G A intron_variant MELA-AU 6 38308767 38308767 single base substitution G A intron_variant MELA-AU 6 38308786 38308786 single base substitution C T intron_variant MELA-AU 6 38309006 38309006 single base substitution G A intron_variant MELA-AU 6 38309589 38309589 single base substitution A G intron_variant MELA-AU 6 38309932 38309932 single base substitution C T intron_variant MELA-AU 6 38310030 38310030 single base substitution G A intron_variant MELA-AU 6 38310446 38310446 single base substitution C T intron_variant MELA-AU 6 38310678 38310678 single base substitution G A intron_variant MELA-AU 6 38310938 38310938 single base substitution A T intron_variant MELA-AU 6 38311977 38311977 single base substitution G A intron_variant MELA-AU 6 38311978 38311978 single base substitution G A intron_variant MELA-AU 6 38312496 38312497 multiple base substitution (>=2bp and <=200bp) CT AC intron_variant MELA-AU 6 38312568 38312568 single base substitution T G intron_variant MELA-AU 6 38312720 38312720 single base substitution T C intron_variant MELA-AU 6 38312926 38312926 single base substitution C A intron_variant MELA-AU 6 38313153 38313153 single base substitution C T intron_variant MELA-AU 6 38313314 38313314 single base substitution G A intron_variant MELA-AU 6 38313484 38313484 single base substitution G A intron_variant MELA-AU 6 38313745 38313745 single base substitution G A intron_variant MELA-AU 6 38313795 38313796 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 6 38314190 38314190 single base substitution C G intron_variant MELA-AU 6 38314557 38314557 single base substitution C T intron_variant MELA-AU 6 38314679 38314679 single base substitution T A intron_variant MELA-AU 6 38314824 38314824 single base substitution G A intron_variant MELA-AU 6 38315308 38315308 single base substitution A C intron_variant MELA-AU 6 38315354 38315354 single base substitution C T intron_variant MELA-AU 6 38315473 38315473 single base substitution G A intron_variant MELA-AU 6 38316756 38316756 single base substitution C T intron_variant MELA-AU 6 38318405 38318405 single base substitution G A intron_variant MELA-AU 6 38319420 38319421 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38319829 38319829 single base substitution G A intron_variant MELA-AU 6 38320216 38320216 single base substitution C T intron_variant MELA-AU 6 38320401 38320401 single base substitution G A intron_variant MELA-AU 6 38321116 38321116 single base substitution G A intron_variant MELA-AU 6 38321317 38321317 single base substitution G A intron_variant MELA-AU 6 38321457 38321457 single base substitution G A intron_variant MELA-AU 6 38321561 38321561 single base substitution G A intron_variant MELA-AU 6 38321619 38321619 single base substitution C T intron_variant MELA-AU 6 38321759 38321759 single base substitution A C intron_variant MELA-AU 6 38321873 38321873 single base substitution C T intron_variant MELA-AU 6 38322001 38322001 single base substitution G T intron_variant MELA-AU 6 38322508 38322508 single base substitution G A intron_variant MELA-AU 6 38322677 38322677 single base substitution G A intron_variant MELA-AU 6 38322857 38322857 single base substitution G A intron_variant MELA-AU 6 38323357 38323357 single base substitution G A intron_variant MELA-AU 6 38323408 38323408 single base substitution G C intron_variant MELA-AU 6 38323936 38323936 single base substitution G A intron_variant MELA-AU 6 38324021 38324021 single base substitution G A intron_variant MELA-AU 6 38324083 38324083 single base substitution G A intron_variant MELA-AU 6 38324469 38324469 single base substitution A T intron_variant MELA-AU 6 38324547 38324547 single base substitution G A intron_variant MELA-AU 6 38324679 38324679 single base substitution G A intron_variant MELA-AU 6 38324680 38324680 single base substitution G A intron_variant MELA-AU 6 38324704 38324704 single base substitution G A intron_variant MELA-AU 6 38324896 38324896 single base substitution G A intron_variant MELA-AU 6 38324904 38324904 single base substitution G A intron_variant MELA-AU 6 38325080 38325080 single base substitution G A intron_variant MELA-AU 6 38325239 38325239 single base substitution G A intron_variant MELA-AU 6 38325240 38325240 single base substitution G A intron_variant MELA-AU 6 38325760 38325760 single base substitution G A intron_variant MELA-AU 6 38326053 38326053 single base substitution A C intron_variant MELA-AU 6 38326205 38326206 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38326817 38326817 single base substitution G A intron_variant MELA-AU 6 38327417 38327417 single base substitution G A intron_variant MELA-AU 6 38327540 38327540 single base substitution G A intron_variant MELA-AU 6 38328426 38328426 single base substitution G A intron_variant MELA-AU 6 38328448 38328448 single base substitution G A intron_variant MELA-AU 6 38328893 38328893 single base substitution C T intron_variant MELA-AU 6 38330063 38330063 single base substitution G A intron_variant MELA-AU 6 38330177 38330177 single base substitution G A intron_variant MELA-AU 6 38330515 38330515 single base substitution A C intron_variant MELA-AU 6 38330834 38330834 single base substitution G A intron_variant MELA-AU 6 38331023 38331023 single base substitution C T intron_variant MELA-AU 6 38331141 38331141 single base substitution C T intron_variant MELA-AU 6 38331148 38331148 single base substitution A G intron_variant MELA-AU 6 38331354 38331354 single base substitution C T intron_variant MELA-AU 6 38331939 38331939 single base substitution G A intron_variant MELA-AU 6 38331973 38331973 single base substitution G A intron_variant MELA-AU 6 38332090 38332090 single base substitution A G intron_variant MELA-AU 6 38332737 38332737 single base substitution C T intron_variant MELA-AU 6 38333057 38333057 single base substitution A G intron_variant MELA-AU 6 38333240 38333240 single base substitution G A intron_variant MELA-AU 6 38333319 38333319 single base substitution G A intron_variant MELA-AU 6 38333461 38333461 single base substitution G A intron_variant MELA-AU 6 38333522 38333522 single base substitution A G intron_variant MELA-AU 6 38333947 38333947 single base substitution G A intron_variant MELA-AU 6 38334382 38334382 single base substitution G A intron_variant MELA-AU 6 38335508 38335508 single base substitution C T intron_variant MELA-AU 6 38335538 38335538 single base substitution T C intron_variant MELA-AU 6 38335626 38335626 single base substitution C T intron_variant MELA-AU 6 38336017 38336017 single base substitution G A intron_variant MELA-AU 6 38336193 38336193 single base substitution C T intron_variant MELA-AU 6 38336320 38336321 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38337873 38337873 single base substitution C T intron_variant MELA-AU 6 38338210 38338210 single base substitution G A intron_variant MELA-AU 6 38338898 38338898 single base substitution A G intron_variant MELA-AU 6 38339324 38339324 single base substitution G A intron_variant MELA-AU 6 38340158 38340158 single base substitution C T intron_variant MELA-AU 6 38340766 38340766 single base substitution G A intron_variant MELA-AU 6 38340961 38340961 single base substitution G A intron_variant MELA-AU 6 38341328 38341328 single base substitution G A intron_variant MELA-AU 6 38341637 38341637 single base substitution T C intron_variant MELA-AU 6 38341794 38341794 single base substitution C T intron_variant MELA-AU 6 38342411 38342411 single base substitution G A intron_variant MELA-AU 6 38342516 38342516 single base substitution G A intron_variant MELA-AU 6 38342573 38342573 single base substitution C T intron_variant MELA-AU 6 38342687 38342687 single base substitution G A intron_variant MELA-AU 6 38342879 38342879 single base substitution G A intron_variant MELA-AU 6 38343161 38343161 single base substitution G A intron_variant MELA-AU 6 38343447 38343447 single base substitution G A intron_variant MELA-AU 6 38343718 38343718 single base substitution G A intron_variant MELA-AU 6 38343719 38343719 single base substitution G A intron_variant MELA-AU 6 38343726 38343726 single base substitution G A intron_variant MELA-AU 6 38343734 38343734 single base substitution A G intron_variant MELA-AU 6 38344149 38344149 single base substitution G A intron_variant MELA-AU 6 38344157 38344157 single base substitution G A intron_variant MELA-AU 6 38344192 38344192 single base substitution G A intron_variant MELA-AU 6 38344479 38344479 single base substitution G A intron_variant MELA-AU 6 38345438 38345438 single base substitution G A intron_variant MELA-AU 6 38345630 38345630 single base substitution A G intron_variant MELA-AU 6 38346317 38346317 single base substitution G A intron_variant MELA-AU 6 38346954 38346954 single base substitution G A intron_variant MELA-AU 6 38347525 38347525 single base substitution C T intron_variant MELA-AU 6 38347606 38347606 single base substitution G A intron_variant MELA-AU 6 38348007 38348007 single base substitution G A intron_variant MELA-AU 6 38348087 38348087 single base substitution G A intron_variant MELA-AU 6 38348453 38348453 single base substitution G A intron_variant MELA-AU 6 38348550 38348550 single base substitution G A intron_variant MELA-AU 6 38348798 38348798 single base substitution G A intron_variant MELA-AU 6 38349798 38349798 single base substitution G A intron_variant MELA-AU 6 38349830 38349830 single base substitution C G intron_variant MELA-AU 6 38350711 38350711 single base substitution A G intron_variant MELA-AU 6 38350781 38350781 single base substitution G A intron_variant MELA-AU 6 38350785 38350785 single base substitution G A intron_variant MELA-AU 6 38350856 38350856 single base substitution A C intron_variant MELA-AU 6 38351793 38351793 single base substitution C T intron_variant MELA-AU 6 38352552 38352552 single base substitution G A intron_variant MELA-AU 6 38352650 38352650 single base substitution G A intron_variant MELA-AU 6 38353936 38353936 single base substitution G A intron_variant MELA-AU 6 38354073 38354073 single base substitution G A intron_variant MELA-AU 6 38354689 38354689 single base substitution G A intron_variant MELA-AU 6 38355268 38355268 single base substitution A C intron_variant MELA-AU 6 38355675 38355675 single base substitution G A intron_variant MELA-AU 6 38356273 38356273 single base substitution G A intron_variant MELA-AU 6 38356295 38356295 single base substitution G A intron_variant MELA-AU 6 38357281 38357281 single base substitution T C intron_variant MELA-AU 6 38357948 38357948 single base substitution G A intron_variant MELA-AU 6 38359458 38359458 single base substitution G A intron_variant MELA-AU 6 38359789 38359789 single base substitution C T intron_variant MELA-AU 6 38360019 38360019 single base substitution G A intron_variant MELA-AU 6 38360635 38360635 single base substitution C T intron_variant MELA-AU 6 38360689 38360689 single base substitution C T intron_variant MELA-AU 6 38360782 38360782 single base substitution C T intron_variant MELA-AU 6 38361476 38361476 single base substitution C G intron_variant MELA-AU 6 38361732 38361732 single base substitution G A intron_variant MELA-AU 6 38362440 38362440 single base substitution G A intron_variant MELA-AU 6 38362442 38362442 single base substitution G A intron_variant MELA-AU 6 38362500 38362500 single base substitution G A intron_variant MELA-AU 6 38362572 38362572 single base substitution G A intron_variant MELA-AU 6 38363016 38363016 single base substitution G A intron_variant MELA-AU 6 38364374 38364374 single base substitution G A intron_variant MELA-AU 6 38364679 38364679 single base substitution T C intron_variant MELA-AU 6 38365202 38365202 single base substitution G A intron_variant MELA-AU 6 38365624 38365624 single base substitution G A intron_variant MELA-AU 6 38365900 38365900 single base substitution G A intron_variant MELA-AU 6 38365916 38365916 single base substitution A G intron_variant MELA-AU 6 38365976 38365976 single base substitution G A intron_variant MELA-AU 6 38366258 38366258 single base substitution G T intron_variant MELA-AU 6 38366442 38366443 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38366492 38366492 single base substitution G A intron_variant MELA-AU 6 38366648 38366648 single base substitution C T intron_variant MELA-AU 6 38366763 38366763 single base substitution G A intron_variant MELA-AU 6 38366849 38366849 single base substitution G A intron_variant MELA-AU 6 38367446 38367446 single base substitution A T intron_variant MELA-AU 6 38367481 38367481 single base substitution G A intron_variant MELA-AU 6 38367486 38367486 single base substitution A T intron_variant MELA-AU 6 38367663 38367663 single base substitution G A intron_variant MELA-AU 6 38367811 38367811 single base substitution T C intron_variant MELA-AU 6 38367815 38367815 single base substitution G A intron_variant MELA-AU 6 38367997 38367997 single base substitution T C intron_variant MELA-AU 6 38368429 38368429 single base substitution G A intron_variant MELA-AU 6 38368445 38368445 single base substitution C T intron_variant MELA-AU 6 38368587 38368587 single base substitution T C intron_variant MELA-AU 6 38368949 38368949 single base substitution G A intron_variant MELA-AU 6 38369071 38369071 single base substitution T A intron_variant MELA-AU 6 38369840 38369840 single base substitution G A intron_variant MELA-AU 6 38370030 38370030 single base substitution G A intron_variant MELA-AU 6 38370058 38370058 single base substitution G A intron_variant MELA-AU 6 38370613 38370613 single base substitution G A intron_variant MELA-AU 6 38370613 38370613 single base substitution G A synonymous_variant L348L 1044C>T MELA-AU 6 38370682 38370682 single base substitution A G intron_variant MELA-AU 6 38370682 38370682 single base substitution A G splice_region_variant MELA-AU 6 38370868 38370868 single base substitution G A intron_variant MELA-AU 6 38370908 38370908 single base substitution G A intron_variant MELA-AU 6 38371418 38371418 single base substitution G A intron_variant MELA-AU 6 38371845 38371845 single base substitution G A intron_variant MELA-AU 6 38372033 38372033 single base substitution A G intron_variant MELA-AU 6 38372794 38372794 single base substitution G A intron_variant MELA-AU 6 38372972 38372972 single base substitution G A intron_variant MELA-AU 6 38373151 38373153 deletion of <=200bp TAA - intron_variant MELA-AU 6 38373643 38373643 single base substitution C T intron_variant MELA-AU 6 38373945 38373945 single base substitution G A intron_variant MELA-AU 6 38374141 38374141 single base substitution T G intron_variant MELA-AU 6 38374287 38374287 single base substitution G A intron_variant MELA-AU 6 38374451 38374451 single base substitution C T intron_variant MELA-AU 6 38374577 38374577 single base substitution G A intron_variant MELA-AU 6 38374762 38374762 single base substitution G A intron_variant MELA-AU 6 38374825 38374825 single base substitution G A intron_variant MELA-AU 6 38375575 38375575 single base substitution G A intron_variant MELA-AU 6 38375967 38375967 single base substitution C T intron_variant MELA-AU 6 38376163 38376163 single base substitution C T intron_variant MELA-AU 6 38376296 38376296 single base substitution C T intron_variant MELA-AU 6 38376611 38376611 single base substitution C T intron_variant MELA-AU 6 38376662 38376662 single base substitution G A intron_variant MELA-AU 6 38376663 38376663 single base substitution G A intron_variant MELA-AU 6 38376674 38376674 single base substitution G A intron_variant MELA-AU 6 38376817 38376817 single base substitution G A intron_variant MELA-AU 6 38376853 38376853 single base substitution C T intron_variant MELA-AU 6 38376953 38376953 single base substitution G A intron_variant MELA-AU 6 38377008 38377008 single base substitution A G intron_variant MELA-AU 6 38377619 38377619 insertion of <=200bp - A intron_variant MELA-AU 6 38378157 38378157 single base substitution G A intron_variant MELA-AU 6 38379435 38379435 single base substitution G A intron_variant MELA-AU 6 38379682 38379682 single base substitution A G intron_variant MELA-AU 6 38380419 38380419 single base substitution G A intron_variant MELA-AU 6 38380561 38380561 single base substitution G A intron_variant MELA-AU 6 38382792 38382792 single base substitution T A intron_variant MELA-AU 6 38382842 38382843 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38383076 38383076 single base substitution G A intron_variant MELA-AU 6 38383137 38383137 single base substitution A T intron_variant MELA-AU 6 38383477 38383477 single base substitution C T intron_variant MELA-AU 6 38383509 38383509 single base substitution G A intron_variant MELA-AU 6 38383836 38383836 single base substitution G A intron_variant MELA-AU 6 38384001 38384001 single base substitution G A intron_variant MELA-AU 6 38384402 38384402 single base substitution G A intron_variant MELA-AU 6 38384680 38384680 single base substitution C T intron_variant MELA-AU 6 38384691 38384691 single base substitution G A intron_variant MELA-AU 6 38385210 38385211 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38385378 38385378 single base substitution C T intron_variant MELA-AU 6 38385572 38385572 single base substitution G A intron_variant MELA-AU 6 38386344 38386344 single base substitution G A intron_variant MELA-AU 6 38386441 38386441 single base substitution C A intron_variant MELA-AU 6 38386662 38386662 single base substitution G A intron_variant MELA-AU 6 38386664 38386664 single base substitution G A intron_variant MELA-AU 6 38386881 38386881 single base substitution G A intron_variant MELA-AU 6 38387220 38387220 single base substitution C T intron_variant MELA-AU 6 38387312 38387312 single base substitution G A intron_variant MELA-AU 6 38387364 38387364 single base substitution G A intron_variant MELA-AU 6 38387603 38387603 single base substitution G A intron_variant MELA-AU 6 38387999 38387999 single base substitution G A intron_variant MELA-AU 6 38388022 38388022 single base substitution G A intron_variant MELA-AU 6 38388159 38388159 single base substitution T C intron_variant MELA-AU 6 38388257 38388257 single base substitution G A intron_variant MELA-AU 6 38388273 38388273 single base substitution G A intron_variant MELA-AU 6 38388565 38388565 single base substitution G A intron_variant MELA-AU 6 38388753 38388753 single base substitution A G intron_variant MELA-AU 6 38388800 38388800 single base substitution T C intron_variant MELA-AU 6 38389540 38389540 single base substitution T C intron_variant MELA-AU 6 38390452 38390452 single base substitution C T intron_variant MELA-AU 6 38390851 38390851 single base substitution G A intron_variant MELA-AU 6 38391859 38391859 single base substitution A G intron_variant MELA-AU 6 38391978 38391978 single base substitution C T intron_variant MELA-AU 6 38392435 38392435 single base substitution G A intron_variant MELA-AU 6 38392656 38392656 single base substitution C T intron_variant MELA-AU 6 38392791 38392791 single base substitution G A intron_variant MELA-AU 6 38393130 38393130 single base substitution T C intron_variant MELA-AU 6 38393288 38393288 single base substitution G A intron_variant MELA-AU 6 38393540 38393540 single base substitution A T intron_variant MELA-AU 6 38393593 38393600 deletion of <=200bp GAAGGTGG - intron_variant MELA-AU 6 38394079 38394079 single base substitution G A intron_variant MELA-AU 6 38394514 38394514 single base substitution G A intron_variant MELA-AU 6 38394596 38394596 single base substitution C T intron_variant MELA-AU 6 38394784 38394784 single base substitution G A intron_variant MELA-AU 6 38394869 38394869 single base substitution G C intron_variant MELA-AU 6 38395058 38395058 single base substitution G A intron_variant MELA-AU 6 38395327 38395327 single base substitution G A intron_variant MELA-AU 6 38396048 38396048 single base substitution G A intron_variant MELA-AU 6 38396115 38396115 single base substitution A C intron_variant MELA-AU 6 38396196 38396196 single base substitution A C intron_variant MELA-AU 6 38396271 38396271 single base substitution G A intron_variant MELA-AU 6 38396723 38396723 single base substitution G A intron_variant MELA-AU 6 38396826 38396826 single base substitution G A intron_variant MELA-AU 6 38396885 38396885 single base substitution G A intron_variant MELA-AU 6 38396979 38396980 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38397226 38397226 single base substitution C T intron_variant MELA-AU 6 38397919 38397919 single base substitution G A intron_variant MELA-AU 6 38397948 38397948 single base substitution C G intron_variant MELA-AU 6 38398106 38398108 multiple base substitution (>=2bp and <=200bp) TTG CCT intron_variant MELA-AU 6 38398221 38398221 single base substitution G A intron_variant MELA-AU 6 38398275 38398275 single base substitution G A intron_variant MELA-AU 6 38398892 38398892 single base substitution C T intron_variant MELA-AU 6 38398907 38398907 single base substitution C T intron_variant MELA-AU 6 38400110 38400110 single base substitution C T intron_variant MELA-AU 6 38400258 38400258 single base substitution G A intron_variant MELA-AU 6 38400991 38400991 single base substitution G A intron_variant MELA-AU 6 38401327 38401327 single base substitution G A intron_variant MELA-AU 6 38401390 38401391 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 38402133 38402133 single base substitution T A intron_variant MELA-AU 6 38402204 38402204 insertion of <=200bp - C intron_variant MELA-AU 6 38402675 38402675 single base substitution G A intron_variant MELA-AU 6 38402706 38402706 single base substitution C A intron_variant MELA-AU 6 38403090 38403090 single base substitution A G intron_variant MELA-AU 6 38403150 38403150 single base substitution C T intron_variant MELA-AU 6 38403578 38403578 single base substitution G A intron_variant MELA-AU 6 38403963 38403963 single base substitution C T intron_variant MELA-AU 6 38404126 38404126 single base substitution C A intron_variant MELA-AU 6 38404349 38404349 single base substitution A G intron_variant MELA-AU 6 38404676 38404676 single base substitution T C intron_variant MELA-AU 6 38405640 38405640 single base substitution G A intron_variant MELA-AU 6 38405676 38405676 single base substitution G A intron_variant MELA-AU 6 38405830 38405830 single base substitution G A intron_variant MELA-AU 6 38406165 38406165 single base substitution G A intron_variant MELA-AU 6 38406218 38406218 single base substitution T A intron_variant MELA-AU 6 38406319 38406319 single base substitution G T intron_variant MELA-AU 6 38406863 38406863 single base substitution T C intron_variant MELA-AU 6 38407411 38407411 single base substitution C A intron_variant MELA-AU 6 38407689 38407689 single base substitution G A intron_variant MELA-AU 6 38408114 38408114 single base substitution G A intron_variant MELA-AU 6 38408304 38408304 single base substitution G A intron_variant MELA-AU 6 38408313 38408313 single base substitution A C intron_variant MELA-AU 6 38408502 38408502 single base substitution A T intron_variant MELA-AU 6 38408689 38408689 single base substitution G A intron_variant MELA-AU 6 38409018 38409018 single base substitution C T intron_variant MELA-AU 6 38409059 38409059 single base substitution G A intron_variant MELA-AU 6 38409218 38409218 single base substitution G A intron_variant MELA-AU 6 38409323 38409323 single base substitution G A intron_variant MELA-AU 6 38409354 38409354 single base substitution A T intron_variant MELA-AU 6 38409396 38409396 single base substitution T C intron_variant MELA-AU 6 38409431 38409431 single base substitution G A intron_variant MELA-AU 6 38409578 38409578 single base substitution T C intron_variant MELA-AU 6 38410178 38410178 single base substitution G T intron_variant MELA-AU 6 38410904 38410904 single base substitution G A intron_variant MELA-AU 6 38411698 38411698 deletion of <=200bp C - intron_variant MELA-AU 6 38412342 38412342 single base substitution C T intron_variant MELA-AU 6 38413084 38413084 single base substitution G A intron_variant MELA-AU 6 38413206 38413206 single base substitution G A intron_variant MELA-AU 6 38413357 38413357 single base substitution G A intron_variant MELA-AU 6 38413703 38413703 single base substitution G A intron_variant MELA-AU 6 38414284 38414284 single base substitution C T intron_variant MELA-AU 6 38414512 38414512 single base substitution G A intron_variant MELA-AU 6 38414925 38414925 single base substitution G A intron_variant MELA-AU 6 38415042 38415042 single base substitution G A intron_variant MELA-AU 6 38415285 38415285 single base substitution G A intron_variant MELA-AU 6 38415481 38415482 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38415542 38415543 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38416008 38416008 single base substitution G A intron_variant MELA-AU 6 38416021 38416021 single base substitution A G intron_variant MELA-AU 6 38416050 38416050 single base substitution G A intron_variant MELA-AU 6 38416109 38416109 single base substitution G A intron_variant MELA-AU 6 38416951 38416951 single base substitution G A intron_variant MELA-AU 6 38416986 38416986 single base substitution G A intron_variant MELA-AU 6 38417290 38417290 single base substitution G A intron_variant MELA-AU 6 38417292 38417292 single base substitution G A intron_variant MELA-AU 6 38417297 38417297 single base substitution G A intron_variant MELA-AU 6 38417530 38417530 single base substitution G A intron_variant MELA-AU 6 38417621 38417621 single base substitution G A intron_variant MELA-AU 6 38417711 38417711 single base substitution G A intron_variant MELA-AU 6 38418529 38418529 single base substitution C T intron_variant MELA-AU 6 38418643 38418643 single base substitution G A intron_variant MELA-AU 6 38418853 38418853 single base substitution T A intron_variant MELA-AU 6 38419193 38419193 single base substitution C T intron_variant MELA-AU 6 38419195 38419195 single base substitution A C intron_variant MELA-AU 6 38419355 38419355 single base substitution G A intron_variant MELA-AU 6 38419520 38419520 single base substitution C T intron_variant MELA-AU 6 38419631 38419631 single base substitution G A intron_variant MELA-AU 6 38419665 38419665 single base substitution G A intron_variant MELA-AU 6 38419776 38419776 single base substitution G A intron_variant MELA-AU 6 38420033 38420033 single base substitution C T intron_variant MELA-AU 6 38420407 38420407 single base substitution C T intron_variant MELA-AU 6 38420514 38420514 single base substitution G T intron_variant MELA-AU 6 38421058 38421058 single base substitution G A intron_variant MELA-AU 6 38421774 38421774 single base substitution G A intron_variant MELA-AU 6 38422076 38422076 single base substitution A T intron_variant MELA-AU 6 38422078 38422078 single base substitution T A intron_variant MELA-AU 6 38422546 38422546 single base substitution C A intron_variant MELA-AU 6 38422641 38422642 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 6 38422792 38422792 single base substitution G A intron_variant MELA-AU 6 38422820 38422820 single base substitution G A intron_variant MELA-AU 6 38423446 38423446 single base substitution G A intron_variant MELA-AU 6 38423619 38423619 single base substitution A G intron_variant MELA-AU 6 38423879 38423879 single base substitution T C intron_variant MELA-AU 6 38423906 38423906 single base substitution G A intron_variant MELA-AU 6 38424242 38424242 single base substitution G A intron_variant MELA-AU 6 38424837 38424837 single base substitution G A intron_variant MELA-AU 6 38424877 38424877 single base substitution G A intron_variant MELA-AU 6 38425048 38425048 single base substitution C T intron_variant MELA-AU 6 38425277 38425277 single base substitution G A intron_variant MELA-AU 6 38425925 38425925 single base substitution G A intron_variant MELA-AU 6 38425985 38425985 single base substitution G A intron_variant MELA-AU 6 38425993 38425993 single base substitution C T intron_variant MELA-AU 6 38426100 38426100 single base substitution A T intron_variant MELA-AU 6 38426145 38426145 single base substitution C T intron_variant MELA-AU 6 38426928 38426928 single base substitution G A intron_variant MELA-AU 6 38426930 38426930 single base substitution G A intron_variant MELA-AU 6 38427030 38427030 single base substitution G A intron_variant MELA-AU 6 38427368 38427368 single base substitution G A intron_variant MELA-AU 6 38427853 38427853 single base substitution A G intron_variant MELA-AU 6 38429925 38429925 single base substitution G A intron_variant MELA-AU 6 38430025 38430025 single base substitution G A intron_variant MELA-AU 6 38430132 38430132 single base substitution G A intron_variant MELA-AU 6 38430405 38430405 single base substitution C T intron_variant MELA-AU 6 38431010 38431010 single base substitution C T intron_variant MELA-AU 6 38431339 38431339 single base substitution G A intron_variant MELA-AU 6 38431742 38431742 single base substitution G A intron_variant MELA-AU 6 38431815 38431815 single base substitution G A intron_variant MELA-AU 6 38432158 38432158 single base substitution G A intron_variant MELA-AU 6 38432214 38432214 single base substitution T C intron_variant MELA-AU 6 38432439 38432439 single base substitution G A intron_variant MELA-AU 6 38432694 38432694 single base substitution G A intron_variant MELA-AU 6 38433158 38433158 single base substitution C T intron_variant MELA-AU 6 38433261 38433261 single base substitution G C intron_variant MELA-AU 6 38434258 38434258 single base substitution G A intron_variant MELA-AU 6 38434892 38434892 single base substitution T A intron_variant MELA-AU 6 38435301 38435301 single base substitution G A intron_variant MELA-AU 6 38436062 38436062 single base substitution A G intron_variant MELA-AU 6 38436079 38436080 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 6 38437866 38437866 single base substitution G A intron_variant MELA-AU 6 38438041 38438041 single base substitution G A intron_variant MELA-AU 6 38438175 38438175 single base substitution G A intron_variant MELA-AU 6 38438325 38438325 single base substitution C T intron_variant MELA-AU 6 38438673 38438673 single base substitution A T intron_variant MELA-AU 6 38438713 38438713 single base substitution G A intron_variant MELA-AU 6 38439118 38439125 deletion of <=200bp AAGCAAGG - intron_variant MELA-AU 6 38439762 38439762 single base substitution G A intron_variant MELA-AU 6 38439794 38439794 single base substitution G A intron_variant MELA-AU 6 38439883 38439884 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38440126 38440126 single base substitution T G intron_variant MELA-AU 6 38440325 38440325 single base substitution A G intron_variant MELA-AU 6 38440459 38440459 single base substitution G A intron_variant MELA-AU 6 38440606 38440606 single base substitution C G intron_variant MELA-AU 6 38440843 38440843 single base substitution G A intron_variant MELA-AU 6 38441057 38441057 single base substitution C G intron_variant MELA-AU 6 38441602 38441602 single base substitution G A intron_variant MELA-AU 6 38441973 38441973 single base substitution G A intron_variant MELA-AU 6 38442144 38442144 single base substitution G A intron_variant MELA-AU 6 38442218 38442218 single base substitution G A intron_variant MELA-AU 6 38442355 38442355 single base substitution G A intron_variant MELA-AU 6 38442365 38442365 single base substitution G C intron_variant MELA-AU 6 38443276 38443276 single base substitution A C intron_variant MELA-AU 6 38443342 38443342 single base substitution C T intron_variant MELA-AU 6 38443642 38443642 single base substitution A T intron_variant MELA-AU 6 38444359 38444359 single base substitution C T intron_variant MELA-AU 6 38444426 38444426 single base substitution A T intron_variant MELA-AU 6 38445031 38445031 single base substitution G A intron_variant MELA-AU 6 38445919 38445919 single base substitution C T intron_variant MELA-AU 6 38446727 38446727 single base substitution A T intron_variant MELA-AU 6 38446815 38446815 single base substitution C T intron_variant MELA-AU 6 38446928 38446928 single base substitution C A intron_variant MELA-AU 6 38447024 38447024 single base substitution C T intron_variant MELA-AU 6 38447201 38447201 single base substitution G A intron_variant MELA-AU 6 38447285 38447285 single base substitution A G intron_variant MELA-AU 6 38447482 38447482 single base substitution G A intron_variant MELA-AU 6 38447639 38447639 single base substitution G A intron_variant MELA-AU 6 38447852 38447852 single base substitution A G intron_variant MELA-AU 6 38448475 38448475 single base substitution A T intron_variant MELA-AU 6 38448551 38448551 single base substitution G A intron_variant MELA-AU 6 38448960 38448960 single base substitution A G intron_variant MELA-AU 6 38449359 38449359 single base substitution G A intron_variant MELA-AU 6 38449450 38449450 single base substitution A T intron_variant MELA-AU 6 38450554 38450554 single base substitution G A intron_variant MELA-AU 6 38450655 38450655 single base substitution T C intron_variant MELA-AU 6 38450706 38450706 single base substitution G A intron_variant MELA-AU 6 38451241 38451241 single base substitution C T intron_variant MELA-AU 6 38452021 38452021 single base substitution G A intron_variant MELA-AU 6 38452606 38452606 single base substitution C T intron_variant MELA-AU 6 38452640 38452640 single base substitution G A intron_variant MELA-AU 6 38453201 38453201 single base substitution G A intron_variant MELA-AU 6 38453326 38453326 single base substitution G A intron_variant MELA-AU 6 38453944 38453944 single base substitution G A intron_variant MELA-AU 6 38455428 38455428 single base substitution G A intron_variant MELA-AU 6 38455446 38455446 single base substitution G A intron_variant MELA-AU 6 38455460 38455460 single base substitution G A intron_variant MELA-AU 6 38455481 38455481 single base substitution A G intron_variant MELA-AU 6 38456024 38456024 single base substitution A C intron_variant MELA-AU 6 38456202 38456202 single base substitution G A intron_variant MELA-AU 6 38456587 38456587 single base substitution G A intron_variant MELA-AU 6 38456954 38456954 single base substitution G A intron_variant MELA-AU 6 38457137 38457137 single base substitution G A intron_variant MELA-AU 6 38457480 38457480 single base substitution G A intron_variant MELA-AU 6 38457706 38457706 single base substitution A G intron_variant MELA-AU 6 38458618 38458618 single base substitution G A intron_variant MELA-AU 6 38458640 38458640 single base substitution A G intron_variant MELA-AU 6 38458733 38458733 single base substitution G A intron_variant MELA-AU 6 38458828 38458828 single base substitution G A intron_variant MELA-AU 6 38458922 38458922 single base substitution G A intron_variant MELA-AU 6 38459190 38459190 single base substitution C T intron_variant MELA-AU 6 38459357 38459357 single base substitution G A intron_variant MELA-AU 6 38459980 38459980 single base substitution C T intron_variant MELA-AU 6 38460086 38460086 single base substitution C G intron_variant MELA-AU 6 38460932 38460932 single base substitution C T intron_variant MELA-AU 6 38461296 38461296 single base substitution C A intron_variant MELA-AU 6 38462087 38462087 single base substitution C T intron_variant MELA-AU 6 38462171 38462171 single base substitution G A intron_variant MELA-AU 6 38462329 38462329 single base substitution C T intron_variant MELA-AU 6 38462422 38462422 single base substitution C T intron_variant MELA-AU 6 38462774 38462774 single base substitution G A intron_variant MELA-AU 6 38463006 38463006 single base substitution G A intron_variant MELA-AU 6 38463483 38463483 single base substitution C T intron_variant MELA-AU 6 38463594 38463594 single base substitution G A intron_variant MELA-AU 6 38464405 38464405 single base substitution G A intron_variant MELA-AU 6 38464462 38464462 single base substitution G A intron_variant MELA-AU 6 38464763 38464763 single base substitution T A intron_variant MELA-AU 6 38465095 38465095 single base substitution G A intron_variant MELA-AU 6 38465470 38465470 single base substitution C T intron_variant MELA-AU 6 38465527 38465527 single base substitution A G intron_variant MELA-AU 6 38466398 38466398 single base substitution G A intron_variant MELA-AU 6 38466849 38466849 single base substitution C T intron_variant MELA-AU 6 38467032 38467032 single base substitution C T intron_variant MELA-AU 6 38467653 38467653 single base substitution A G intron_variant MELA-AU 6 38467762 38467762 single base substitution T C intron_variant MELA-AU 6 38468102 38468102 single base substitution C A intron_variant MELA-AU 6 38468239 38468239 single base substitution G A intron_variant MELA-AU 6 38468413 38468413 single base substitution G A intron_variant MELA-AU 6 38468589 38468589 single base substitution A T intron_variant MELA-AU 6 38468833 38468833 single base substitution G A intron_variant MELA-AU 6 38469554 38469554 single base substitution C T intron_variant MELA-AU 6 38469699 38469699 single base substitution A T intron_variant MELA-AU 6 38470118 38470118 single base substitution G A intron_variant MELA-AU 6 38470293 38470293 single base substitution G A intron_variant MELA-AU 6 38470804 38470804 single base substitution G A intron_variant MELA-AU 6 38470838 38470838 single base substitution G A intron_variant MELA-AU 6 38471433 38471433 single base substitution C A intron_variant MELA-AU 6 38471700 38471700 single base substitution C T intron_variant MELA-AU 6 38471938 38471938 single base substitution G A intron_variant MELA-AU 6 38472354 38472354 single base substitution G A intron_variant MELA-AU 6 38472945 38472945 single base substitution G A intron_variant MELA-AU 6 38473017 38473017 single base substitution G A intron_variant MELA-AU 6 38473604 38473604 single base substitution G A intron_variant MELA-AU 6 38473946 38473946 single base substitution A T intron_variant MELA-AU 6 38474101 38474101 single base substitution T A intron_variant MELA-AU 6 38474345 38474345 single base substitution C T intron_variant MELA-AU 6 38474547 38474547 deletion of <=200bp T - intron_variant MELA-AU 6 38475230 38475230 single base substitution C T intron_variant MELA-AU 6 38475589 38475589 single base substitution G A intron_variant MELA-AU 6 38475640 38475640 single base substitution C T intron_variant MELA-AU 6 38475658 38475658 single base substitution G A intron_variant MELA-AU 6 38475744 38475744 single base substitution G A intron_variant MELA-AU 6 38475862 38475862 single base substitution G A intron_variant MELA-AU 6 38475933 38475933 single base substitution A G intron_variant MELA-AU 6 38476212 38476212 single base substitution T C intron_variant MELA-AU 6 38476526 38476526 single base substitution C T intron_variant MELA-AU 6 38476663 38476663 single base substitution G A intron_variant MELA-AU 6 38477453 38477453 single base substitution A C intron_variant MELA-AU 6 38477926 38477926 single base substitution G A intron_variant MELA-AU 6 38478740 38478740 single base substitution A T intron_variant MELA-AU 6 38479175 38479175 single base substitution G A intron_variant MELA-AU 6 38479252 38479252 single base substitution G A intron_variant MELA-AU 6 38479665 38479665 single base substitution G A intron_variant MELA-AU 6 38479772 38479772 single base substitution G A intron_variant MELA-AU 6 38480069 38480069 single base substitution G A intron_variant MELA-AU 6 38480113 38480113 single base substitution C T intron_variant MELA-AU 6 38480363 38480363 single base substitution G A intron_variant MELA-AU 6 38480366 38480366 single base substitution G A intron_variant MELA-AU 6 38480777 38480777 single base substitution G A intron_variant MELA-AU 6 38480811 38480811 single base substitution G A intron_variant MELA-AU 6 38480914 38480914 single base substitution T C intron_variant MELA-AU 6 38481368 38481368 single base substitution A G intron_variant MELA-AU 6 38481680 38481680 single base substitution A T intron_variant MELA-AU 6 38482543 38482543 single base substitution G T intron_variant MELA-AU 6 38482831 38482831 single base substitution G A intron_variant MELA-AU 6 38483155 38483155 single base substitution A C intron_variant MELA-AU 6 38483692 38483692 single base substitution A G intron_variant MELA-AU 6 38483839 38483839 single base substitution G A intron_variant MELA-AU 6 38484053 38484053 single base substitution C T intron_variant MELA-AU 6 38484356 38484356 single base substitution C A intron_variant MELA-AU 6 38484599 38484599 single base substitution G A intron_variant MELA-AU 6 38484782 38484782 single base substitution G A intron_variant MELA-AU 6 38485525 38485525 single base substitution A C intron_variant MELA-AU 6 38485641 38485641 single base substitution G A intron_variant MELA-AU 6 38485739 38485739 single base substitution T C intron_variant MELA-AU 6 38485994 38485994 single base substitution G A intron_variant MELA-AU 6 38486462 38486462 single base substitution G A intron_variant MELA-AU 6 38487322 38487322 single base substitution C A intron_variant MELA-AU 6 38488381 38488381 single base substitution G A intron_variant MELA-AU 6 38488568 38488568 single base substitution T A intron_variant MELA-AU 6 38488838 38488838 single base substitution G A intron_variant MELA-AU 6 38489355 38489355 single base substitution G A intron_variant MELA-AU 6 38489458 38489458 single base substitution C T intron_variant MELA-AU 6 38489707 38489707 single base substitution T C intron_variant MELA-AU 6 38490154 38490154 single base substitution G A intron_variant MELA-AU 6 38490521 38490521 single base substitution G A intron_variant MELA-AU 6 38490631 38490631 single base substitution G A intron_variant MELA-AU 6 38490839 38490839 single base substitution A T intron_variant MELA-AU 6 38490841 38490841 single base substitution C T intron_variant MELA-AU 6 38491546 38491546 single base substitution A G intron_variant MELA-AU 6 38491592 38491592 single base substitution G A intron_variant MELA-AU 6 38491951 38491951 single base substitution G A intron_variant MELA-AU 6 38492215 38492215 single base substitution G A intron_variant MELA-AU 6 38492756 38492756 single base substitution G A intron_variant MELA-AU 6 38492852 38492852 single base substitution G A intron_variant MELA-AU 6 38492923 38492923 single base substitution G A intron_variant MELA-AU 6 38493332 38493332 single base substitution G A intron_variant MELA-AU 6 38493343 38493343 single base substitution G A intron_variant MELA-AU 6 38493518 38493518 single base substitution G A intron_variant MELA-AU 6 38493588 38493588 single base substitution A C intron_variant MELA-AU 6 38493766 38493766 single base substitution C T intron_variant MELA-AU 6 38494180 38494180 single base substitution G A intron_variant MELA-AU 6 38494191 38494191 single base substitution G A intron_variant MELA-AU 6 38494219 38494219 single base substitution G A intron_variant MELA-AU 6 38494220 38494220 single base substitution G A intron_variant MELA-AU 6 38494936 38494936 single base substitution C A intron_variant MELA-AU 6 38495027 38495027 single base substitution G A intron_variant MELA-AU 6 38495275 38495275 single base substitution T C intron_variant MELA-AU 6 38495628 38495628 single base substitution G A intron_variant MELA-AU 6 38495772 38495772 single base substitution G A intron_variant MELA-AU 6 38495788 38495788 single base substitution G T intron_variant MELA-AU 6 38495871 38495871 single base substitution G A intron_variant MELA-AU 6 38497054 38497054 single base substitution G A intron_variant MELA-AU 6 38497813 38497813 single base substitution G A intron_variant MELA-AU 6 38498230 38498230 single base substitution G A intron_variant MELA-AU 6 38498523 38498523 single base substitution G A intron_variant MELA-AU 6 38498586 38498586 single base substitution T C intron_variant MELA-AU 6 38498711 38498711 single base substitution G A intron_variant MELA-AU 6 38498782 38498782 single base substitution G A intron_variant MELA-AU 6 38498933 38498933 single base substitution C T intron_variant MELA-AU 6 38500148 38500148 single base substitution G A intron_variant MELA-AU 6 38500529 38500529 single base substitution G A intron_variant MELA-AU 6 38500870 38500870 single base substitution G A intron_variant MELA-AU 6 38501013 38501013 single base substitution G A intron_variant MELA-AU 6 38501116 38501116 single base substitution G A intron_variant MELA-AU 6 38501509 38501509 single base substitution G A intron_variant MELA-AU 6 38501860 38501860 single base substitution G A intron_variant MELA-AU 6 38502425 38502425 single base substitution G A intron_variant MELA-AU 6 38502541 38502541 single base substitution A T intron_variant MELA-AU 6 38502709 38502709 single base substitution G A intron_variant MELA-AU 6 38503167 38503167 single base substitution G A intron_variant MELA-AU 6 38503450 38503450 single base substitution G A intron_variant MELA-AU 6 38504375 38504375 single base substitution G A intron_variant MELA-AU 6 38505145 38505145 single base substitution C A intron_variant MELA-AU 6 38505351 38505351 single base substitution C T intron_variant MELA-AU 6 38505486 38505486 single base substitution C T intron_variant MELA-AU 6 38506648 38506648 single base substitution C T intron_variant MELA-AU 6 38506966 38506966 single base substitution C T intron_variant MELA-AU 6 38509145 38509145 single base substitution G A intron_variant MELA-AU 6 38509180 38509180 single base substitution G A intron_variant MELA-AU 6 38509368 38509368 single base substitution G C intron_variant MELA-AU 6 38509794 38509794 single base substitution G A intron_variant MELA-AU 6 38510916 38510917 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38511300 38511300 single base substitution T C intron_variant MELA-AU 6 38511504 38511504 single base substitution C T intron_variant MELA-AU 6 38511790 38511790 single base substitution G A intron_variant MELA-AU 6 38511837 38511837 single base substitution C T intron_variant MELA-AU 6 38512501 38512501 single base substitution G A intron_variant MELA-AU 6 38513003 38513003 single base substitution G A intron_variant MELA-AU 6 38513325 38513325 single base substitution G A intron_variant MELA-AU 6 38513463 38513463 single base substitution G A intron_variant MELA-AU 6 38513478 38513478 single base substitution C T intron_variant MELA-AU 6 38513818 38513818 single base substitution C T intron_variant MELA-AU 6 38514104 38514104 single base substitution T A intron_variant MELA-AU 6 38514301 38514301 single base substitution A T intron_variant MELA-AU 6 38514315 38514315 single base substitution G A intron_variant MELA-AU 6 38514478 38514478 single base substitution T A intron_variant MELA-AU 6 38514578 38514578 single base substitution G A intron_variant MELA-AU 6 38514630 38514630 single base substitution G A intron_variant MELA-AU 6 38514664 38514664 single base substitution G A intron_variant MELA-AU 6 38515216 38515216 single base substitution G A intron_variant MELA-AU 6 38515249 38515249 single base substitution C T intron_variant MELA-AU 6 38516184 38516184 single base substitution C T intron_variant MELA-AU 6 38516532 38516532 single base substitution C A intron_variant MELA-AU 6 38517711 38517711 single base substitution G A intron_variant MELA-AU 6 38518274 38518274 single base substitution A G intron_variant MELA-AU 6 38518606 38518606 single base substitution C T intron_variant MELA-AU 6 38518929 38518929 single base substitution C T intron_variant MELA-AU 6 38519214 38519214 single base substitution G A intron_variant MELA-AU 6 38519408 38519408 single base substitution G A intron_variant MELA-AU 6 38519610 38519610 single base substitution A T intron_variant MELA-AU 6 38519982 38519982 single base substitution G A intron_variant MELA-AU 6 38520171 38520171 single base substitution G A intron_variant MELA-AU 6 38520470 38520470 single base substitution G A intron_variant MELA-AU 6 38520585 38520585 single base substitution C T intron_variant MELA-AU 6 38521254 38521254 single base substitution G A intron_variant MELA-AU 6 38521320 38521320 single base substitution T G intron_variant MELA-AU 6 38522183 38522183 single base substitution A T intron_variant MELA-AU 6 38523613 38523613 single base substitution G A intron_variant MELA-AU 6 38524417 38524417 single base substitution T C intron_variant MELA-AU 6 38524797 38524797 single base substitution A G intron_variant MELA-AU 6 38525145 38525145 single base substitution T C intron_variant MELA-AU 6 38525276 38525276 single base substitution A C intron_variant MELA-AU 6 38525321 38525321 single base substitution G A intron_variant MELA-AU 6 38525381 38525381 single base substitution C T intron_variant MELA-AU 6 38525658 38525658 single base substitution C G intron_variant MELA-AU 6 38525973 38525973 single base substitution A G intron_variant MELA-AU 6 38526100 38526100 single base substitution G A intron_variant MELA-AU 6 38526121 38526121 single base substitution G A intron_variant MELA-AU 6 38526387 38526387 single base substitution G A intron_variant MELA-AU 6 38526644 38526644 single base substitution G A intron_variant MELA-AU 6 38526667 38526667 single base substitution C T intron_variant MELA-AU 6 38526856 38526856 single base substitution G A intron_variant MELA-AU 6 38526866 38526866 single base substitution C T intron_variant MELA-AU 6 38526897 38526897 single base substitution A G intron_variant MELA-AU 6 38526939 38526939 single base substitution G T intron_variant MELA-AU 6 38527116 38527116 single base substitution G A intron_variant MELA-AU 6 38527397 38527397 single base substitution G A intron_variant MELA-AU 6 38527700 38527700 single base substitution A T intron_variant MELA-AU 6 38527777 38527777 single base substitution C T intron_variant MELA-AU 6 38527794 38527794 single base substitution T A intron_variant MELA-AU 6 38527921 38527921 single base substitution G A intron_variant MELA-AU 6 38527977 38527977 single base substitution G A intron_variant MELA-AU 6 38527978 38527978 single base substitution G A intron_variant MELA-AU 6 38528203 38528203 single base substitution T C intron_variant MELA-AU 6 38528433 38528433 single base substitution A T intron_variant MELA-AU 6 38528583 38528583 single base substitution C T intron_variant MELA-AU 6 38529183 38529183 single base substitution T C intron_variant MELA-AU 6 38529462 38529462 single base substitution A T intron_variant MELA-AU 6 38529581 38529581 single base substitution G A intron_variant MELA-AU 6 38529650 38529650 single base substitution G A intron_variant MELA-AU 6 38529694 38529694 single base substitution G A intron_variant MELA-AU 6 38530827 38530827 single base substitution G T intron_variant MELA-AU 6 38530859 38530859 single base substitution G A intron_variant MELA-AU 6 38530912 38530912 single base substitution G A intron_variant MELA-AU 6 38531254 38531254 single base substitution C T intron_variant MELA-AU 6 38531432 38531432 single base substitution T G intron_variant MELA-AU 6 38531621 38531621 single base substitution G A intron_variant MELA-AU 6 38531841 38531841 single base substitution A T intron_variant MELA-AU 6 38532133 38532133 single base substitution C T intron_variant MELA-AU 6 38532287 38532287 single base substitution G A intron_variant MELA-AU 6 38532383 38532383 single base substitution G A intron_variant MELA-AU 6 38532493 38532493 single base substitution T A intron_variant MELA-AU 6 38532672 38532672 single base substitution A T intron_variant MELA-AU 6 38533116 38533116 single base substitution C T intron_variant MELA-AU 6 38533144 38533144 single base substitution C G intron_variant MELA-AU 6 38533186 38533186 single base substitution G A intron_variant MELA-AU 6 38533225 38533225 single base substitution G A intron_variant MELA-AU 6 38533462 38533462 single base substitution G A intron_variant MELA-AU 6 38533554 38533554 single base substitution A T intron_variant MELA-AU 6 38533831 38533831 single base substitution A T intron_variant MELA-AU 6 38534054 38534054 single base substitution T A intron_variant MELA-AU 6 38534392 38534392 single base substitution G A intron_variant MELA-AU 6 38534438 38534438 single base substitution G A intron_variant MELA-AU 6 38534742 38534742 single base substitution T A intron_variant MELA-AU 6 38535738 38535738 single base substitution G A intron_variant MELA-AU 6 38535739 38535739 single base substitution G A intron_variant MELA-AU 6 38536295 38536295 single base substitution A G intron_variant MELA-AU 6 38536431 38536431 single base substitution G A intron_variant MELA-AU 6 38536687 38536687 single base substitution A G intron_variant MELA-AU 6 38536767 38536767 single base substitution G A intron_variant MELA-AU 6 38536798 38536798 single base substitution G A intron_variant MELA-AU 6 38537034 38537034 single base substitution C T intron_variant MELA-AU 6 38537150 38537150 single base substitution G T intron_variant MELA-AU 6 38537564 38537565 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 6 38537565 38537565 single base substitution G A intron_variant MELA-AU 6 38537899 38537899 single base substitution A T intron_variant MELA-AU 6 38538031 38538031 single base substitution G A intron_variant MELA-AU 6 38538129 38538129 single base substitution G A intron_variant MELA-AU 6 38539142 38539142 single base substitution G A intron_variant MELA-AU 6 38539230 38539230 single base substitution G A intron_variant MELA-AU 6 38539773 38539773 single base substitution A C intron_variant MELA-AU 6 38540107 38540107 single base substitution C T intron_variant MELA-AU 6 38540926 38540926 single base substitution G A intron_variant MELA-AU 6 38541727 38541727 single base substitution A G intron_variant MELA-AU 6 38541788 38541788 single base substitution G A intron_variant MELA-AU 6 38542227 38542227 single base substitution G A intron_variant MELA-AU 6 38542645 38542645 single base substitution C A intron_variant MELA-AU 6 38542648 38542648 single base substitution G A intron_variant MELA-AU 6 38542820 38542820 single base substitution G A intron_variant MELA-AU 6 38543388 38543388 single base substitution T C intron_variant MELA-AU 6 38543451 38543451 single base substitution G A intron_variant MELA-AU 6 38543581 38543581 single base substitution T C intron_variant MELA-AU 6 38544150 38544150 single base substitution G A intron_variant MELA-AU 6 38545510 38545510 single base substitution G A intron_variant MELA-AU 6 38545880 38545880 single base substitution A T intron_variant MELA-AU 6 38545900 38545900 single base substitution G A intron_variant MELA-AU 6 38545954 38545954 single base substitution A G intron_variant MELA-AU 6 38546435 38546435 single base substitution G A intron_variant MELA-AU 6 38546991 38546991 single base substitution G A intron_variant MELA-AU 6 38547156 38547156 single base substitution G A intron_variant MELA-AU 6 38547553 38547553 single base substitution G A intron_variant MELA-AU 6 38548958 38548958 single base substitution A T intron_variant MELA-AU 6 38549149 38549149 single base substitution A T intron_variant MELA-AU 6 38549682 38549682 single base substitution G A intron_variant MELA-AU 6 38550348 38550348 single base substitution G A intron_variant MELA-AU 6 38550615 38550615 single base substitution A C intron_variant MELA-AU 6 38551040 38551040 single base substitution G A intron_variant MELA-AU 6 38551183 38551183 single base substitution G A intron_variant MELA-AU 6 38551256 38551256 single base substitution T C intron_variant MELA-AU 6 38551460 38551460 single base substitution G A intron_variant MELA-AU 6 38551895 38551895 single base substitution G A intron_variant MELA-AU 6 38552073 38552073 single base substitution C T intron_variant MELA-AU 6 38552211 38552211 single base substitution G A intron_variant MELA-AU 6 38552226 38552226 single base substitution G C intron_variant MELA-AU 6 38552230 38552230 single base substitution G A intron_variant MELA-AU 6 38552241 38552241 single base substitution G A intron_variant MELA-AU 6 38552345 38552345 single base substitution T G intron_variant MELA-AU 6 38552437 38552437 single base substitution C A intron_variant MELA-AU 6 38552507 38552507 single base substitution T A intron_variant MELA-AU 6 38552811 38552811 single base substitution G A intron_variant MELA-AU 6 38553479 38553479 single base substitution G A intron_variant MELA-AU 6 38554003 38554003 single base substitution G A intron_variant MELA-AU 6 38554143 38554143 single base substitution G A intron_variant MELA-AU 6 38554145 38554145 single base substitution A G intron_variant MELA-AU 6 38554742 38554742 single base substitution G A intron_variant MELA-AU 6 38555241 38555241 single base substitution G A intron_variant MELA-AU 6 38555321 38555321 single base substitution G A intron_variant MELA-AU 6 38555499 38555499 single base substitution C T intron_variant MELA-AU 6 38555558 38555558 single base substitution G A intron_variant MELA-AU 6 38555634 38555634 single base substitution G A intron_variant MELA-AU 6 38555701 38555701 single base substitution C T intron_variant MELA-AU 6 38556538 38556538 single base substitution T C intron_variant MELA-AU 6 38557598 38557598 single base substitution G A downstream_gene_variant MELA-AU 6 38557598 38557598 single base substitution G A intron_variant MELA-AU 6 38557929 38557929 single base substitution G A downstream_gene_variant MELA-AU 6 38557929 38557929 single base substitution G A intron_variant MELA-AU 6 38558265 38558265 single base substitution C T downstream_gene_variant MELA-AU 6 38558265 38558265 single base substitution C T intron_variant MELA-AU 6 38558349 38558349 single base substitution G A downstream_gene_variant MELA-AU 6 38558349 38558349 single base substitution G A intron_variant MELA-AU 6 38558454 38558454 single base substitution G A downstream_gene_variant MELA-AU 6 38558454 38558454 single base substitution G A intron_variant MELA-AU 6 38558782 38558782 single base substitution A T downstream_gene_variant MELA-AU 6 38558782 38558782 single base substitution A T intron_variant MELA-AU 6 38559005 38559005 single base substitution A C downstream_gene_variant MELA-AU 6 38559005 38559005 single base substitution A C intron_variant MELA-AU 6 38559060 38559060 single base substitution A G downstream_gene_variant MELA-AU 6 38559060 38559060 single base substitution A G intron_variant MELA-AU 6 38559752 38559753 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 38559752 38559753 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38560153 38560153 single base substitution G A downstream_gene_variant MELA-AU 6 38560153 38560153 single base substitution G A intron_variant MELA-AU 6 38560194 38560194 single base substitution G A downstream_gene_variant MELA-AU 6 38560194 38560194 single base substitution G A intron_variant MELA-AU 6 38560339 38560339 single base substitution G A downstream_gene_variant MELA-AU 6 38560339 38560339 single base substitution G A intron_variant MELA-AU 6 38560427 38560427 single base substitution G A downstream_gene_variant MELA-AU 6 38560427 38560427 single base substitution G A exon_variant MELA-AU 6 38560427 38560427 single base substitution G A missense_variant P179S 535C>T MELA-AU 6 38560427 38560427 single base substitution G A missense_variant P188S 562C>T MELA-AU 6 38560427 38560427 single base substitution G A missense_variant P247S 739C>T MELA-AU 6 38560692 38560692 single base substitution G A downstream_gene_variant MELA-AU 6 38560692 38560692 single base substitution G A intron_variant MELA-AU 6 38561622 38561622 single base substitution A C downstream_gene_variant MELA-AU 6 38561622 38561622 single base substitution A C intron_variant MELA-AU 6 38561635 38561635 single base substitution A G downstream_gene_variant MELA-AU 6 38561635 38561635 single base substitution A G intron_variant MELA-AU 6 38561772 38561772 single base substitution G A downstream_gene_variant MELA-AU 6 38561772 38561772 single base substitution G A exon_variant MELA-AU 6 38561772 38561772 single base substitution G A missense_variant L105F 313C>T MELA-AU 6 38561772 38561772 single base substitution G A missense_variant L114F 340C>T MELA-AU 6 38561772 38561772 single base substitution G A missense_variant L173F 517C>T MELA-AU 6 38562115 38562115 single base substitution G A 5_prime_UTR_variant MELA-AU 6 38562115 38562115 single base substitution G A intron_variant MELA-AU 6 38562115 38562115 single base substitution G A upstream_gene_variant MELA-AU 6 38562165 38562165 single base substitution G A intron_variant MELA-AU 6 38562165 38562165 single base substitution G A upstream_gene_variant MELA-AU 6 38562226 38562226 single base substitution G A intron_variant MELA-AU 6 38562226 38562226 single base substitution G A upstream_gene_variant MELA-AU 6 38562588 38562588 single base substitution G A intron_variant MELA-AU 6 38562588 38562588 single base substitution G A upstream_gene_variant MELA-AU 6 38562715 38562715 single base substitution G A intron_variant MELA-AU 6 38562715 38562715 single base substitution G A upstream_gene_variant MELA-AU 6 38562780 38562781 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38562780 38562781 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 38563658 38563659 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 6 38563658 38563659 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38563658 38563659 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 38563750 38563750 single base substitution G A 5_prime_UTR_variant MELA-AU 6 38563750 38563750 single base substitution G A intron_variant MELA-AU 6 38563750 38563750 single base substitution G A upstream_gene_variant MELA-AU 6 38564057 38564057 single base substitution C T intron_variant MELA-AU 6 38564057 38564057 single base substitution C T upstream_gene_variant MELA-AU 6 38564124 38564124 single base substitution G A intron_variant MELA-AU 6 38564124 38564124 single base substitution G A upstream_gene_variant MELA-AU 6 38564178 38564178 single base substitution T C intron_variant MELA-AU 6 38564178 38564178 single base substitution T C upstream_gene_variant MELA-AU 6 38564471 38564471 single base substitution G A intron_variant MELA-AU 6 38564471 38564471 single base substitution G A upstream_gene_variant MELA-AU 6 38564650 38564650 single base substitution G A intron_variant MELA-AU 6 38564650 38564650 single base substitution G A upstream_gene_variant MELA-AU 6 38565065 38565065 single base substitution T A intron_variant MELA-AU 6 38565065 38565065 single base substitution T A upstream_gene_variant MELA-AU 6 38565204 38565204 single base substitution C T intron_variant MELA-AU 6 38565204 38565204 single base substitution C T upstream_gene_variant MELA-AU 6 38565353 38565353 single base substitution G A intron_variant MELA-AU 6 38565353 38565353 single base substitution G A upstream_gene_variant MELA-AU 6 38565403 38565403 single base substitution G A intron_variant MELA-AU 6 38565403 38565403 single base substitution G A upstream_gene_variant MELA-AU 6 38565454 38565454 single base substitution G A intron_variant MELA-AU 6 38565454 38565454 single base substitution G A upstream_gene_variant MELA-AU 6 38565687 38565687 single base substitution G A splice_region_variant MELA-AU 6 38565687 38565687 single base substitution G A stop_gained R62* 184C>T MELA-AU 6 38565687 38565687 single base substitution G A upstream_gene_variant MELA-AU 6 38566210 38566210 single base substitution A G intron_variant MELA-AU 6 38566210 38566210 single base substitution A G upstream_gene_variant MELA-AU 6 38566219 38566219 single base substitution C T intron_variant MELA-AU 6 38566219 38566219 single base substitution C T upstream_gene_variant MELA-AU 6 38566677 38566677 single base substitution G A intron_variant MELA-AU 6 38566677 38566677 single base substitution G A upstream_gene_variant MELA-AU 6 38566873 38566873 single base substitution T C intron_variant MELA-AU 6 38566873 38566873 single base substitution T C upstream_gene_variant MELA-AU 6 38567545 38567545 single base substitution G A intron_variant MELA-AU 6 38567545 38567545 single base substitution G A upstream_gene_variant MELA-AU 6 38567554 38567554 single base substitution C T intron_variant MELA-AU 6 38567554 38567554 single base substitution C T upstream_gene_variant MELA-AU 6 38567842 38567842 single base substitution G A intron_variant MELA-AU 6 38567842 38567842 single base substitution G A upstream_gene_variant MELA-AU 6 38568076 38568076 single base substitution A T intron_variant MELA-AU 6 38568076 38568076 single base substitution A T upstream_gene_variant MELA-AU 6 38568724 38568724 single base substitution T G intron_variant MELA-AU 6 38568724 38568724 single base substitution T G upstream_gene_variant MELA-AU 6 38568730 38568730 single base substitution A C intron_variant MELA-AU 6 38568730 38568730 single base substitution A C upstream_gene_variant MELA-AU 6 38568797 38568797 single base substitution A G intron_variant MELA-AU 6 38568797 38568797 single base substitution A G upstream_gene_variant MELA-AU 6 38569040 38569040 single base substitution G A intron_variant MELA-AU 6 38569040 38569040 single base substitution G A upstream_gene_variant MELA-AU 6 38569093 38569093 single base substitution T A intron_variant MELA-AU 6 38569093 38569093 single base substitution T A upstream_gene_variant MELA-AU 6 38569357 38569357 single base substitution G A intron_variant MELA-AU 6 38569357 38569357 single base substitution G A upstream_gene_variant MELA-AU 6 38569524 38569524 single base substitution G A intron_variant MELA-AU 6 38569524 38569524 single base substitution G A upstream_gene_variant MELA-AU 6 38569564 38569564 single base substitution G A intron_variant MELA-AU 6 38569564 38569564 single base substitution G A upstream_gene_variant MELA-AU 6 38569810 38569810 single base substitution G A intron_variant MELA-AU 6 38569810 38569810 single base substitution G A upstream_gene_variant MELA-AU 6 38569949 38569949 single base substitution G A intron_variant MELA-AU 6 38569949 38569949 single base substitution G A upstream_gene_variant MELA-AU 6 38570044 38570044 single base substitution G A intron_variant MELA-AU 6 38570044 38570044 single base substitution G A upstream_gene_variant MELA-AU 6 38570491 38570491 single base substitution G A intron_variant MELA-AU 6 38570491 38570491 single base substitution G A upstream_gene_variant MELA-AU 6 38570605 38570605 single base substitution T C intron_variant MELA-AU 6 38570605 38570605 single base substitution T C upstream_gene_variant MELA-AU 6 38571288 38571288 single base substitution G A intron_variant MELA-AU 6 38571876 38571876 single base substitution G A intron_variant MELA-AU 6 38572718 38572718 single base substitution C T intron_variant MELA-AU 6 38573526 38573526 single base substitution C T intron_variant MELA-AU 6 38573672 38573672 single base substitution C T intron_variant MELA-AU 6 38574583 38574583 single base substitution A G intron_variant MELA-AU 6 38575108 38575108 single base substitution G A intron_variant MELA-AU 6 38576076 38576076 single base substitution G A intron_variant MELA-AU 6 38576390 38576390 single base substitution G A intron_variant MELA-AU 6 38576511 38576511 single base substitution A G intron_variant MELA-AU 6 38576585 38576585 single base substitution G A intron_variant MELA-AU 6 38576873 38576873 single base substitution G A intron_variant MELA-AU 6 38577415 38577415 single base substitution T C intron_variant MELA-AU 6 38577870 38577870 single base substitution T C intron_variant MELA-AU 6 38578062 38578062 single base substitution G A intron_variant MELA-AU 6 38578451 38578451 single base substitution G A intron_variant MELA-AU 6 38578738 38578738 single base substitution A T intron_variant MELA-AU 6 38579041 38579041 single base substitution G A intron_variant MELA-AU 6 38579057 38579057 single base substitution G A intron_variant MELA-AU 6 38579129 38579129 single base substitution G A intron_variant MELA-AU 6 38579420 38579420 single base substitution A G intron_variant MELA-AU 6 38579695 38579695 single base substitution G A intron_variant MELA-AU 6 38579758 38579758 single base substitution C T intron_variant MELA-AU 6 38580863 38580863 single base substitution C T intron_variant MELA-AU 6 38581135 38581135 single base substitution C T intron_variant MELA-AU 6 38581158 38581158 single base substitution G A intron_variant MELA-AU 6 38581316 38581316 single base substitution G A intron_variant MELA-AU 6 38582438 38582438 single base substitution C T intron_variant MELA-AU 6 38582633 38582633 single base substitution G A intron_variant MELA-AU 6 38582916 38582916 single base substitution T C intron_variant MELA-AU 6 38583502 38583502 single base substitution C T intron_variant MELA-AU 6 38583589 38583589 single base substitution T C intron_variant MELA-AU 6 38583994 38583994 single base substitution C A intron_variant MELA-AU 6 38584309 38584309 single base substitution A T intron_variant MELA-AU 6 38584338 38584338 single base substitution G A intron_variant MELA-AU 6 38584351 38584351 single base substitution G A intron_variant MELA-AU 6 38584413 38584413 single base substitution G A intron_variant MELA-AU 6 38584455 38584455 single base substitution G A intron_variant MELA-AU 6 38584493 38584493 single base substitution G A intron_variant MELA-AU 6 38584710 38584710 single base substitution G A intron_variant MELA-AU 6 38584934 38584934 single base substitution G A intron_variant MELA-AU 6 38585196 38585196 single base substitution A C intron_variant MELA-AU 6 38585361 38585361 single base substitution G A intron_variant MELA-AU 6 38585583 38585583 single base substitution G A intron_variant MELA-AU 6 38585657 38585658 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 38585726 38585726 single base substitution G A intron_variant MELA-AU 6 38585789 38585789 single base substitution G A intron_variant MELA-AU 6 38585875 38585875 single base substitution G A intron_variant MELA-AU 6 38586396 38586396 single base substitution G A intron_variant MELA-AU 6 38586476 38586476 single base substitution T C intron_variant MELA-AU 6 38586716 38586716 single base substitution G A intron_variant MELA-AU 6 38586805 38586805 single base substitution G A intron_variant MELA-AU 6 38586819 38586819 single base substitution A G intron_variant MELA-AU 6 38586935 38586935 single base substitution G A intron_variant MELA-AU 6 38587094 38587094 single base substitution A T intron_variant MELA-AU 6 38587118 38587118 single base substitution G A intron_variant MELA-AU 6 38587427 38587427 single base substitution G A intron_variant MELA-AU 6 38587597 38587597 single base substitution A G intron_variant MELA-AU 6 38587611 38587611 single base substitution G C intron_variant MELA-AU 6 38587687 38587687 single base substitution G A intron_variant MELA-AU 6 38587806 38587806 single base substitution A G intron_variant MELA-AU 6 38588226 38588226 single base substitution G A intron_variant MELA-AU 6 38588991 38588991 single base substitution G A intron_variant MELA-AU 6 38589221 38589221 single base substitution G A intron_variant MELA-AU 6 38589236 38589236 single base substitution G A intron_variant MELA-AU 6 38589315 38589315 single base substitution C A intron_variant MELA-AU 6 38589406 38589406 single base substitution C T intron_variant MELA-AU 6 38589682 38589682 single base substitution C T intron_variant MELA-AU 6 38589965 38589965 single base substitution G A intron_variant MELA-AU 6 38590603 38590603 single base substitution G T intron_variant MELA-AU 6 38590749 38590749 single base substitution G A intron_variant MELA-AU 6 38591382 38591382 single base substitution G A intron_variant MELA-AU 6 38591414 38591414 single base substitution G A intron_variant MELA-AU 6 38591699 38591699 single base substitution G A intron_variant MELA-AU 6 38591802 38591802 single base substitution G A intron_variant MELA-AU 6 38591844 38591844 single base substitution G A intron_variant MELA-AU 6 38592002 38592002 single base substitution G A intron_variant MELA-AU 6 38592601 38592601 single base substitution A T intron_variant MELA-AU 6 38592602 38592602 single base substitution G A intron_variant MELA-AU 6 38593100 38593100 single base substitution C T intron_variant MELA-AU 6 38593451 38593451 single base substitution G A intron_variant MELA-AU 6 38594036 38594036 single base substitution G A intron_variant MELA-AU 6 38594157 38594157 single base substitution C T intron_variant MELA-AU 6 38594782 38594782 single base substitution G A intron_variant MELA-AU 6 38594919 38594919 single base substitution C T intron_variant MELA-AU 6 38595378 38595403 deletion of <=200bp AATGGTAAGCTGTTTCAAAGAGGTGG - intron_variant MELA-AU 6 38596420 38596420 single base substitution T C intron_variant MELA-AU 6 38596545 38596545 single base substitution T C intron_variant MELA-AU 6 38596743 38596743 single base substitution G A intron_variant MELA-AU 6 38596951 38596951 single base substitution G A intron_variant MELA-AU 6 38597524 38597524 single base substitution G A intron_variant MELA-AU 6 38597909 38597909 single base substitution G A intron_variant MELA-AU 6 38598103 38598103 single base substitution G A intron_variant MELA-AU 6 38598352 38598352 single base substitution G A intron_variant MELA-AU 6 38599831 38599831 single base substitution G A intron_variant MELA-AU 6 38600307 38600307 single base substitution G A intron_variant MELA-AU 6 38600615 38600615 single base substitution G A intron_variant MELA-AU 6 38601035 38601035 single base substitution G A intron_variant MELA-AU 6 38601808 38601808 single base substitution T G intron_variant MELA-AU 6 38601885 38601885 single base substitution A G intron_variant MELA-AU 6 38602160 38602160 single base substitution G C intron_variant MELA-AU 6 38602231 38602231 single base substitution G A intron_variant MELA-AU 6 38602608 38602608 single base substitution G A intron_variant MELA-AU 6 38604794 38604794 single base substitution C T intron_variant MELA-AU 6 38605462 38605462 single base substitution A C intron_variant MELA-AU 6 38606203 38606203 single base substitution G A intron_variant MELA-AU 6 38607273 38607273 single base substitution G A intron_variant MELA-AU 6 38607462 38607462 single base substitution G A intron_variant MELA-AU 6 38607463 38607463 single base substitution G A intron_variant MELA-AU 6 38607466 38607466 single base substitution A T intron_variant MELA-AU 6 38608241 38608241 single base substitution T A upstream_gene_variant MELA-AU 6 38609155 38609156 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 38609252 38609252 single base substitution G A upstream_gene_variant MELA-AU 6 38609323 38609323 single base substitution C T upstream_gene_variant MELA-AU 6 38609888 38609888 single base substitution A C upstream_gene_variant MELA-AU 6 38610009 38610009 single base substitution C T upstream_gene_variant MELA-AU 6 38610195 38610195 single base substitution A C upstream_gene_variant MELA-AU 6 38610451 38610451 single base substitution C T upstream_gene_variant MELA-AU 6 38611686 38611686 single base substitution G A upstream_gene_variant ORCA-IN 6 38170002 38170002 single base substitution G C intron_variant ORCA-IN 6 38172957 38172957 single base substitution C A intron_variant ORCA-IN 6 38177920 38177920 single base substitution C T intron_variant ORCA-IN 6 38222247 38222247 insertion of <=200bp - A intron_variant ORCA-IN 6 38231936 38231936 single base substitution G A intron_variant ORCA-IN 6 38278574 38278574 single base substitution T C intron_variant ORCA-IN 6 38280483 38280483 single base substitution G C intron_variant ORCA-IN 6 38295949 38295949 single base substitution C A intron_variant ORCA-IN 6 38296381 38296381 single base substitution G T intron_variant ORCA-IN 6 38303747 38303747 single base substitution G A intron_variant ORCA-IN 6 38350090 38350090 single base substitution T A intron_variant ORCA-IN 6 38373752 38373752 single base substitution G A intron_variant ORCA-IN 6 38393739 38393739 single base substitution A C intron_variant ORCA-IN 6 38397476 38397476 single base substitution C G intron_variant ORCA-IN 6 38473261 38473261 single base substitution G A intron_variant ORCA-IN 6 38526021 38526021 single base substitution G C intron_variant ORCA-IN 6 38529696 38529696 single base substitution A G intron_variant ORCA-IN 6 38548178 38548178 single base substitution C A exon_variant ORCA-IN 6 38548178 38548178 single base substitution C A missense_variant A216S 646G>T ORCA-IN 6 38548178 38548178 single base substitution C A missense_variant A225S 673G>T ORCA-IN 6 38548178 38548178 single base substitution C A missense_variant A284S 850G>T ORCA-IN 6 38574283 38574283 single base substitution G A intron_variant ORCA-IN 6 38574387 38574387 single base substitution G A intron_variant ORCA-IN 6 38575475 38575475 single base substitution C T intron_variant ORCA-IN 6 38584752 38584752 single base substitution G A intron_variant ORCA-IN 6 38599361 38599361 single base substitution G A intron_variant OV-AU 6 38152850 38152850 single base substitution A C intron_variant OV-AU 6 38153877 38153877 single base substitution C G intron_variant OV-AU 6 38156449 38156449 single base substitution T C intron_variant OV-AU 6 38161157 38161157 single base substitution A G intron_variant OV-AU 6 38161508 38161508 single base substitution G T intron_variant OV-AU 6 38166001 38166001 single base substitution G T intron_variant OV-AU 6 38170010 38170010 single base substitution G A intron_variant OV-AU 6 38179202 38179202 single base substitution C A intron_variant OV-AU 6 38183041 38183041 single base substitution T C intron_variant OV-AU 6 38183288 38183288 single base substitution G A intron_variant OV-AU 6 38190549 38190549 single base substitution C G intron_variant OV-AU 6 38195752 38195752 single base substitution A C intron_variant OV-AU 6 38197432 38197432 single base substitution G T intron_variant OV-AU 6 38209320 38209320 single base substitution G T intron_variant OV-AU 6 38209565 38209565 single base substitution A G intron_variant OV-AU 6 38210395 38210395 single base substitution G A intron_variant OV-AU 6 38212446 38212446 single base substitution G A intron_variant OV-AU 6 38214887 38214887 single base substitution T G intron_variant OV-AU 6 38218100 38218100 single base substitution C T intron_variant OV-AU 6 38218910 38218910 single base substitution A C intron_variant OV-AU 6 38232508 38232508 single base substitution G A intron_variant OV-AU 6 38232848 38232848 single base substitution C A intron_variant OV-AU 6 38233584 38233584 single base substitution C A intron_variant OV-AU 6 38234167 38234167 single base substitution G A intron_variant OV-AU 6 38237426 38237426 single base substitution C A intron_variant OV-AU 6 38244281 38244281 single base substitution A T intron_variant OV-AU 6 38244637 38244637 single base substitution C A intron_variant OV-AU 6 38244869 38244869 single base substitution C T intron_variant OV-AU 6 38257853 38257853 single base substitution G T intron_variant OV-AU 6 38265067 38265067 single base substitution G C intron_variant OV-AU 6 38266749 38266749 single base substitution A C intron_variant OV-AU 6 38272337 38272337 single base substitution A C intron_variant OV-AU 6 38278231 38278231 single base substitution T C intron_variant OV-AU 6 38281183 38281183 single base substitution C G intron_variant OV-AU 6 38285248 38285248 single base substitution G C intron_variant OV-AU 6 38293403 38293403 single base substitution G T intron_variant OV-AU 6 38294744 38294744 single base substitution T A intron_variant OV-AU 6 38295381 38295381 single base substitution T A intron_variant OV-AU 6 38299504 38299504 single base substitution G A intron_variant OV-AU 6 38304120 38304120 single base substitution G C intron_variant OV-AU 6 38309406 38309406 single base substitution A C intron_variant OV-AU 6 38320025 38320025 single base substitution C T intron_variant OV-AU 6 38321785 38321785 single base substitution C G intron_variant OV-AU 6 38325225 38325225 single base substitution G A intron_variant OV-AU 6 38327313 38327313 single base substitution G A intron_variant OV-AU 6 38332508 38332508 single base substitution G A intron_variant OV-AU 6 38337012 38337012 single base substitution T A intron_variant OV-AU 6 38337265 38337265 single base substitution G A intron_variant OV-AU 6 38345548 38345548 single base substitution A G intron_variant OV-AU 6 38354817 38354817 single base substitution G A intron_variant OV-AU 6 38363054 38363054 single base substitution T A intron_variant OV-AU 6 38364316 38364316 single base substitution A G intron_variant OV-AU 6 38367197 38367197 single base substitution T C intron_variant OV-AU 6 38368901 38368901 single base substitution C A intron_variant OV-AU 6 38369464 38369464 single base substitution A T intron_variant OV-AU 6 38380556 38380556 single base substitution A T intron_variant OV-AU 6 38381706 38381706 single base substitution G A intron_variant OV-AU 6 38382375 38382375 single base substitution G C intron_variant OV-AU 6 38388887 38388887 single base substitution C A intron_variant OV-AU 6 38389861 38389861 single base substitution G C intron_variant OV-AU 6 38390558 38390558 single base substitution T C intron_variant OV-AU 6 38392473 38392473 single base substitution A C intron_variant OV-AU 6 38397128 38397128 single base substitution G A intron_variant OV-AU 6 38408635 38408635 single base substitution G A intron_variant OV-AU 6 38409999 38409999 single base substitution C G intron_variant OV-AU 6 38411922 38411922 single base substitution A G intron_variant OV-AU 6 38418451 38418451 single base substitution C A intron_variant OV-AU 6 38422904 38422904 single base substitution T C intron_variant OV-AU 6 38425571 38425571 single base substitution C A intron_variant OV-AU 6 38438077 38438077 single base substitution A G intron_variant OV-AU 6 38438436 38438436 single base substitution A C intron_variant OV-AU 6 38441979 38441979 single base substitution T C intron_variant OV-AU 6 38454041 38454041 single base substitution G A intron_variant OV-AU 6 38457067 38457067 single base substitution C A intron_variant OV-AU 6 38460502 38460502 single base substitution T G intron_variant OV-AU 6 38461219 38461219 single base substitution T C intron_variant OV-AU 6 38476316 38476316 single base substitution T C intron_variant OV-AU 6 38478854 38478854 single base substitution T G intron_variant OV-AU 6 38481345 38481345 single base substitution A C intron_variant OV-AU 6 38481589 38481589 single base substitution T G intron_variant OV-AU 6 38481704 38481704 single base substitution A T intron_variant OV-AU 6 38486219 38486219 single base substitution G T intron_variant OV-AU 6 38486447 38486447 single base substitution G T intron_variant OV-AU 6 38493960 38493960 single base substitution T C intron_variant OV-AU 6 38494066 38494066 single base substitution A C intron_variant OV-AU 6 38501556 38501556 single base substitution G C intron_variant OV-AU 6 38502022 38502022 single base substitution T G intron_variant OV-AU 6 38503056 38503056 single base substitution T C intron_variant OV-AU 6 38511419 38511419 single base substitution G A intron_variant OV-AU 6 38516410 38516410 single base substitution G T intron_variant OV-AU 6 38522364 38522364 single base substitution C A intron_variant OV-AU 6 38524148 38524148 single base substitution T G intron_variant OV-AU 6 38524994 38524994 single base substitution C T intron_variant OV-AU 6 38528799 38528799 single base substitution A T intron_variant OV-AU 6 38531425 38531425 single base substitution A C intron_variant OV-AU 6 38539525 38539525 single base substitution A G intron_variant OV-AU 6 38540024 38540024 single base substitution G T intron_variant OV-AU 6 38540025 38540025 single base substitution T A intron_variant OV-AU 6 38556933 38556933 single base substitution T A downstream_gene_variant OV-AU 6 38556933 38556933 single base substitution T A intron_variant OV-AU 6 38567029 38567029 single base substitution A G intron_variant OV-AU 6 38567029 38567029 single base substitution A G upstream_gene_variant OV-AU 6 38572861 38572861 single base substitution C A intron_variant OV-AU 6 38575474 38575474 single base substitution T A intron_variant OV-AU 6 38577006 38577006 single base substitution C T intron_variant OV-AU 6 38586557 38586557 single base substitution C G intron_variant OV-AU 6 38586558 38586558 single base substitution T A intron_variant OV-AU 6 38589385 38589385 single base substitution T G intron_variant OV-AU 6 38589802 38589802 single base substitution G A intron_variant OV-AU 6 38591154 38591154 single base substitution G C intron_variant OV-AU 6 38594752 38594752 single base substitution T G intron_variant OV-AU 6 38596719 38596719 single base substitution A T intron_variant OV-AU 6 38596942 38596942 single base substitution T A intron_variant OV-AU 6 38598638 38598638 single base substitution G C intron_variant OV-AU 6 38601251 38601251 single base substitution G C intron_variant OV-AU 6 38609088 38609088 single base substitution G A upstream_gene_variant PACA-AU 6 38137248 38137248 single base substitution T C 3_prime_UTR_variant PACA-AU 6 38141545 38141545 single base substitution C T 3_prime_UTR_variant PACA-AU 6 38141545 38141545 single base substitution C T downstream_gene_variant PACA-AU 6 38142219 38142219 single base substitution G T 3_prime_UTR_variant PACA-AU 6 38142219 38142219 single base substitution G T downstream_gene_variant PACA-AU 6 38142643 38142643 single base substitution G A 3_prime_UTR_variant PACA-AU 6 38142643 38142643 single base substitution G A downstream_gene_variant PACA-AU 6 38146661 38146661 single base substitution G A intron_variant PACA-AU 6 38153069 38153069 single base substitution T C intron_variant PACA-AU 6 38157638 38157638 single base substitution C T intron_variant PACA-AU 6 38163237 38163237 single base substitution T G intron_variant PACA-AU 6 38169870 38169870 single base substitution T G intron_variant PACA-AU 6 38170843 38170843 deletion of <=200bp A - intron_variant PACA-AU 6 38176500 38176500 single base substitution A T intron_variant PACA-AU 6 38177375 38177382 deletion of <=200bp CTCAAAAC - intron_variant PACA-AU 6 38178046 38178046 single base substitution G A intron_variant PACA-AU 6 38178047 38178047 single base substitution C A intron_variant PACA-AU 6 38178880 38178880 single base substitution T G intron_variant PACA-AU 6 38180853 38180853 single base substitution A C intron_variant PACA-AU 6 38181842 38181842 deletion of <=200bp A - intron_variant PACA-AU 6 38182144 38182144 single base substitution G A intron_variant PACA-AU 6 38182732 38182732 single base substitution C G intron_variant PACA-AU 6 38182749 38182749 single base substitution C A intron_variant PACA-AU 6 38191158 38191158 single base substitution T C intron_variant PACA-AU 6 38191753 38191753 single base substitution C T intron_variant PACA-AU 6 38193726 38193726 single base substitution C A intron_variant PACA-AU 6 38196932 38196932 single base substitution C G intron_variant PACA-AU 6 38202556 38202556 insertion of <=200bp - T intron_variant PACA-AU 6 38209079 38209079 single base substitution T C intron_variant PACA-AU 6 38210479 38210479 single base substitution G C intron_variant PACA-AU 6 38218130 38218130 single base substitution A C intron_variant PACA-AU 6 38221575 38221575 single base substitution C A intron_variant PACA-AU 6 38229147 38229147 deletion of <=200bp C - intron_variant PACA-AU 6 38234442 38234442 single base substitution G A intron_variant PACA-AU 6 38235711 38235711 single base substitution G A intron_variant PACA-AU 6 38236206 38236208 deletion of <=200bp GAC - intron_variant PACA-AU 6 38241133 38241133 single base substitution G C intron_variant PACA-AU 6 38247213 38247213 single base substitution C G intron_variant PACA-AU 6 38248232 38248232 single base substitution A T intron_variant PACA-AU 6 38256960 38256960 single base substitution A G intron_variant PACA-AU 6 38257158 38257158 single base substitution T A intron_variant PACA-AU 6 38258937 38258937 single base substitution C A intron_variant PACA-AU 6 38259939 38259939 single base substitution C G intron_variant PACA-AU 6 38264540 38264540 single base substitution G A intron_variant PACA-AU 6 38264970 38264970 single base substitution C T intron_variant PACA-AU 6 38265203 38265203 single base substitution T C intron_variant PACA-AU 6 38270295 38270295 single base substitution A G intron_variant PACA-AU 6 38271899 38271899 single base substitution T C intron_variant PACA-AU 6 38272066 38272066 single base substitution G A intron_variant PACA-AU 6 38272337 38272337 single base substitution A C intron_variant PACA-AU 6 38272857 38272857 insertion of <=200bp - A intron_variant PACA-AU 6 38276564 38276564 single base substitution A T intron_variant PACA-AU 6 38278216 38278236 deletion of <=200bp GCAAAATATATAATTTATACT - intron_variant PACA-AU 6 38287549 38287549 single base substitution A C intron_variant PACA-AU 6 38295836 38295836 insertion of <=200bp - T intron_variant PACA-AU 6 38297885 38297885 single base substitution C A intron_variant PACA-AU 6 38298927 38298927 single base substitution G C intron_variant PACA-AU 6 38310040 38310040 single base substitution G T intron_variant PACA-AU 6 38314014 38314014 single base substitution A G intron_variant PACA-AU 6 38322484 38322484 single base substitution C T intron_variant PACA-AU 6 38334144 38334144 single base substitution T C intron_variant PACA-AU 6 38343050 38343050 single base substitution C A intron_variant PACA-AU 6 38343512 38343512 single base substitution C A intron_variant PACA-AU 6 38350426 38350426 single base substitution G A intron_variant PACA-AU 6 38353907 38353907 single base substitution T C intron_variant PACA-AU 6 38369420 38369420 single base substitution C T intron_variant PACA-AU 6 38370699 38370699 single base substitution T A intron_variant PACA-AU 6 38370915 38370915 single base substitution G A intron_variant PACA-AU 6 38375677 38375677 single base substitution A C intron_variant PACA-AU 6 38378732 38378732 insertion of <=200bp - CT intron_variant PACA-AU 6 38391207 38391207 single base substitution C T intron_variant PACA-AU 6 38391557 38391557 deletion of <=200bp A - intron_variant PACA-AU 6 38392888 38392888 single base substitution G A intron_variant PACA-AU 6 38396031 38396031 single base substitution A G intron_variant PACA-AU 6 38400629 38400629 single base substitution G A intron_variant PACA-AU 6 38403866 38403866 single base substitution C A intron_variant PACA-AU 6 38404210 38404210 single base substitution G A intron_variant PACA-AU 6 38405365 38405365 single base substitution C T intron_variant PACA-AU 6 38410029 38410029 single base substitution C T intron_variant PACA-AU 6 38415399 38415399 single base substitution G A intron_variant PACA-AU 6 38417496 38417496 single base substitution C T intron_variant PACA-AU 6 38419748 38419748 single base substitution A G intron_variant PACA-AU 6 38430847 38430847 single base substitution C T intron_variant PACA-AU 6 38440993 38440993 single base substitution G T intron_variant PACA-AU 6 38444609 38444609 single base substitution T C intron_variant PACA-AU 6 38447603 38447603 single base substitution C G intron_variant PACA-AU 6 38451643 38451643 single base substitution C T intron_variant PACA-AU 6 38453372 38453372 single base substitution G C intron_variant PACA-AU 6 38457485 38457485 single base substitution G A intron_variant PACA-AU 6 38460878 38460878 single base substitution C A intron_variant PACA-AU 6 38463343 38463343 single base substitution A G intron_variant PACA-AU 6 38471855 38471855 single base substitution T C intron_variant PACA-AU 6 38479760 38479760 deletion of <=200bp T - intron_variant PACA-AU 6 38481074 38481074 single base substitution A T intron_variant PACA-AU 6 38497741 38497741 single base substitution A G intron_variant PACA-AU 6 38500908 38500908 single base substitution A T intron_variant PACA-AU 6 38502755 38502755 single base substitution T A intron_variant PACA-AU 6 38503828 38503828 single base substitution G T intron_variant PACA-AU 6 38504714 38504714 single base substitution G A intron_variant PACA-AU 6 38506871 38506871 insertion of <=200bp - A intron_variant PACA-AU 6 38509749 38509749 single base substitution G T intron_variant PACA-AU 6 38522012 38522012 single base substitution G C intron_variant PACA-AU 6 38529617 38529617 single base substitution G T intron_variant PACA-AU 6 38529670 38529670 single base substitution G T intron_variant PACA-AU 6 38530665 38530665 single base substitution T C intron_variant PACA-AU 6 38531946 38531946 single base substitution G A intron_variant PACA-AU 6 38533743 38533743 single base substitution G T intron_variant PACA-AU 6 38539688 38539688 single base substitution A T intron_variant PACA-AU 6 38543006 38543006 single base substitution T A intron_variant PACA-AU 6 38543016 38543016 single base substitution A G intron_variant PACA-AU 6 38546138 38546138 deletion of <=200bp G - intron_variant PACA-AU 6 38559156 38559156 single base substitution A C downstream_gene_variant PACA-AU 6 38559156 38559156 single base substitution A C intron_variant PACA-AU 6 38560572 38560572 single base substitution G A downstream_gene_variant PACA-AU 6 38560572 38560572 single base substitution G A exon_variant PACA-AU 6 38560572 38560572 single base substitution G A synonymous_variant P130P 390C>T PACA-AU 6 38560572 38560572 single base substitution G A synonymous_variant P139P 417C>T PACA-AU 6 38560572 38560572 single base substitution G A synonymous_variant P198P 594C>T PACA-AU 6 38565885 38565885 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 6 38565885 38565885 single base substitution G A intron_variant PACA-AU 6 38565885 38565885 single base substitution G A upstream_gene_variant PACA-AU 6 38571722 38571722 single base substitution C A intron_variant PACA-AU 6 38582509 38582509 single base substitution C G intron_variant PACA-AU 6 38592052 38592052 single base substitution G A intron_variant PACA-AU 6 38595039 38595039 single base substitution T C intron_variant PACA-AU 6 38597890 38597890 single base substitution A C intron_variant PACA-AU 6 38601603 38601603 deletion of <=200bp C - intron_variant PACA-AU 6 38602362 38602362 single base substitution G A intron_variant PACA-AU 6 38611687 38611687 single base substitution G A upstream_gene_variant PACA-AU 6 38612843 38612843 single base substitution G T upstream_gene_variant PACA-CA 6 38131766 38131766 single base substitution G A downstream_gene_variant PACA-CA 6 38131923 38131923 single base substitution G T downstream_gene_variant PACA-CA 6 38135375 38135375 single base substitution T C downstream_gene_variant PACA-CA 6 38136826 38136826 single base substitution C T 3_prime_UTR_variant PACA-CA 6 38139531 38139531 single base substitution T C 3_prime_UTR_variant PACA-CA 6 38139531 38139531 single base substitution T C downstream_gene_variant PACA-CA 6 38146738 38146738 single base substitution C A intron_variant PACA-CA 6 38151392 38151392 single base substitution A T intron_variant PACA-CA 6 38152358 38152358 single base substitution C T intron_variant PACA-CA 6 38152757 38152757 single base substitution G A intron_variant PACA-CA 6 38159059 38159059 single base substitution G A intron_variant PACA-CA 6 38165828 38165828 insertion of <=200bp - A intron_variant PACA-CA 6 38167024 38167024 insertion of <=200bp - C intron_variant PACA-CA 6 38167025 38167025 deletion of <=200bp C - intron_variant PACA-CA 6 38168505 38168505 single base substitution G A intron_variant PACA-CA 6 38170991 38170991 single base substitution T G intron_variant PACA-CA 6 38171177 38171177 single base substitution T G intron_variant PACA-CA 6 38171291 38171291 single base substitution C T intron_variant PACA-CA 6 38172182 38172182 single base substitution C T intron_variant PACA-CA 6 38174367 38174367 single base substitution G C intron_variant PACA-CA 6 38177878 38177878 single base substitution C T intron_variant PACA-CA 6 38178472 38178472 single base substitution G A intron_variant PACA-CA 6 38181016 38181016 single base substitution G A intron_variant PACA-CA 6 38182997 38182997 single base substitution G A intron_variant PACA-CA 6 38186732 38186732 single base substitution C T intron_variant PACA-CA 6 38190881 38190881 single base substitution C T intron_variant PACA-CA 6 38191702 38191702 single base substitution G T intron_variant PACA-CA 6 38191958 38191958 single base substitution C G intron_variant PACA-CA 6 38194800 38194800 single base substitution C T intron_variant PACA-CA 6 38195449 38195449 single base substitution C T intron_variant PACA-CA 6 38195612 38195612 single base substitution C G intron_variant PACA-CA 6 38196546 38196546 single base substitution A G intron_variant PACA-CA 6 38198555 38198555 single base substitution C T intron_variant PACA-CA 6 38199324 38199324 single base substitution G T intron_variant PACA-CA 6 38199988 38199988 single base substitution A G intron_variant PACA-CA 6 38201043 38201043 single base substitution A T intron_variant PACA-CA 6 38202228 38202228 single base substitution G A intron_variant PACA-CA 6 38207724 38207724 single base substitution A T intron_variant PACA-CA 6 38209471 38209471 single base substitution C T intron_variant PACA-CA 6 38211198 38211198 single base substitution C A intron_variant PACA-CA 6 38211582 38211582 single base substitution G A intron_variant PACA-CA 6 38211904 38211904 deletion of <=200bp T - intron_variant PACA-CA 6 38212578 38212578 single base substitution G A intron_variant PACA-CA 6 38213684 38213684 insertion of <=200bp - T intron_variant PACA-CA 6 38217015 38217015 single base substitution C A intron_variant PACA-CA 6 38220104 38220104 single base substitution G A intron_variant PACA-CA 6 38223829 38223829 single base substitution G A intron_variant PACA-CA 6 38224642 38224642 single base substitution T C intron_variant PACA-CA 6 38226391 38226391 single base substitution G A intron_variant PACA-CA 6 38228726 38228726 single base substitution T C intron_variant PACA-CA 6 38230873 38230873 single base substitution C G intron_variant PACA-CA 6 38237591 38237591 single base substitution A G intron_variant PACA-CA 6 38237643 38237643 single base substitution T C intron_variant PACA-CA 6 38239906 38239906 single base substitution T C intron_variant PACA-CA 6 38246460 38246460 single base substitution A G intron_variant PACA-CA 6 38247976 38247976 single base substitution C A intron_variant PACA-CA 6 38250406 38250406 single base substitution C T intron_variant PACA-CA 6 38251970 38251970 deletion of <=200bp A - intron_variant PACA-CA 6 38257149 38257149 insertion of <=200bp - A intron_variant PACA-CA 6 38257150 38257150 deletion of <=200bp A - intron_variant PACA-CA 6 38258938 38258938 single base substitution C T intron_variant PACA-CA 6 38259033 38259033 single base substitution T C intron_variant PACA-CA 6 38261472 38261472 single base substitution A G intron_variant PACA-CA 6 38261750 38261750 insertion of <=200bp - A intron_variant PACA-CA 6 38262051 38262051 single base substitution C G intron_variant PACA-CA 6 38262713 38262713 single base substitution G A intron_variant PACA-CA 6 38263489 38263489 single base substitution A T intron_variant PACA-CA 6 38265450 38265450 single base substitution T G intron_variant PACA-CA 6 38269898 38269898 single base substitution G C intron_variant PACA-CA 6 38270680 38270680 single base substitution G C intron_variant PACA-CA 6 38272340 38272340 single base substitution A C intron_variant PACA-CA 6 38272432 38272432 single base substitution C T intron_variant PACA-CA 6 38272661 38272661 single base substitution T C intron_variant PACA-CA 6 38273942 38273942 single base substitution G A intron_variant PACA-CA 6 38289244 38289244 single base substitution G A intron_variant PACA-CA 6 38290253 38290253 single base substitution C A intron_variant PACA-CA 6 38299868 38299868 single base substitution G A intron_variant PACA-CA 6 38301590 38301590 single base substitution C T intron_variant PACA-CA 6 38301887 38301887 single base substitution C T intron_variant PACA-CA 6 38302538 38302538 single base substitution A G intron_variant PACA-CA 6 38303799 38303799 single base substitution A G intron_variant PACA-CA 6 38304899 38304899 deletion of <=200bp A - intron_variant PACA-CA 6 38311014 38311014 single base substitution T A intron_variant PACA-CA 6 38313234 38313234 single base substitution A C intron_variant PACA-CA 6 38314824 38314824 single base substitution G C intron_variant PACA-CA 6 38317033 38317033 single base substitution T C intron_variant PACA-CA 6 38317537 38317537 single base substitution G A intron_variant PACA-CA 6 38317633 38317633 single base substitution G A intron_variant PACA-CA 6 38320675 38320675 single base substitution G A intron_variant PACA-CA 6 38328192 38328192 insertion of <=200bp - A intron_variant PACA-CA 6 38333844 38333844 single base substitution T C intron_variant PACA-CA 6 38335917 38335917 single base substitution G A intron_variant PACA-CA 6 38345881 38345881 single base substitution C T intron_variant PACA-CA 6 38346026 38346026 single base substitution T C intron_variant PACA-CA 6 38350476 38350479 deletion of <=200bp ACAA - intron_variant PACA-CA 6 38354672 38354672 single base substitution G T intron_variant PACA-CA 6 38360438 38360438 single base substitution T A intron_variant PACA-CA 6 38370034 38370034 single base substitution C T intron_variant PACA-CA 6 38372700 38372700 single base substitution A G intron_variant PACA-CA 6 38373619 38373619 single base substitution C T intron_variant PACA-CA 6 38375374 38375374 single base substitution T G intron_variant PACA-CA 6 38376077 38376077 single base substitution T C intron_variant PACA-CA 6 38377979 38377979 single base substitution G A intron_variant PACA-CA 6 38386622 38386622 single base substitution G A intron_variant PACA-CA 6 38391085 38391085 single base substitution T A intron_variant PACA-CA 6 38392317 38392317 single base substitution G A intron_variant PACA-CA 6 38394610 38394610 single base substitution C T intron_variant PACA-CA 6 38397258 38397258 single base substitution C T intron_variant PACA-CA 6 38409031 38409031 single base substitution C T intron_variant PACA-CA 6 38409597 38409597 single base substitution A G intron_variant PACA-CA 6 38409874 38409874 single base substitution C G intron_variant PACA-CA 6 38412696 38412696 single base substitution G A intron_variant PACA-CA 6 38412704 38412704 single base substitution G A intron_variant PACA-CA 6 38412736 38412736 single base substitution G A intron_variant PACA-CA 6 38412823 38412823 single base substitution G A intron_variant PACA-CA 6 38413782 38413782 single base substitution C G intron_variant PACA-CA 6 38414095 38414095 single base substitution T A intron_variant PACA-CA 6 38414848 38414848 single base substitution A C intron_variant PACA-CA 6 38415021 38415021 single base substitution G A intron_variant PACA-CA 6 38415626 38415626 single base substitution A C intron_variant PACA-CA 6 38416319 38416319 single base substitution G A intron_variant PACA-CA 6 38417552 38417552 single base substitution A T intron_variant PACA-CA 6 38418345 38418345 single base substitution A T intron_variant PACA-CA 6 38418910 38418910 single base substitution T C intron_variant PACA-CA 6 38419312 38419312 single base substitution C T intron_variant PACA-CA 6 38419379 38419379 single base substitution T A intron_variant PACA-CA 6 38420491 38420491 single base substitution T C intron_variant PACA-CA 6 38424159 38424159 single base substitution G A intron_variant PACA-CA 6 38425270 38425270 single base substitution A T intron_variant PACA-CA 6 38425524 38425524 single base substitution A G intron_variant PACA-CA 6 38430356 38430356 single base substitution A G intron_variant PACA-CA 6 38432875 38432875 single base substitution C T intron_variant PACA-CA 6 38435688 38435688 single base substitution T C intron_variant PACA-CA 6 38438868 38438868 single base substitution C T intron_variant PACA-CA 6 38442578 38442578 insertion of <=200bp - A intron_variant PACA-CA 6 38443206 38443206 single base substitution A G intron_variant PACA-CA 6 38445851 38445851 single base substitution T C intron_variant PACA-CA 6 38454672 38454672 single base substitution G C intron_variant PACA-CA 6 38463812 38463812 single base substitution C T intron_variant PACA-CA 6 38467641 38467646 deletion of <=200bp TGTTAC - intron_variant PACA-CA 6 38469341 38469341 single base substitution C G intron_variant PACA-CA 6 38471891 38471891 single base substitution G A intron_variant PACA-CA 6 38473480 38473480 single base substitution C T intron_variant PACA-CA 6 38477948 38477948 single base substitution C T intron_variant PACA-CA 6 38479844 38479844 single base substitution G T intron_variant PACA-CA 6 38491564 38491564 single base substitution C T intron_variant PACA-CA 6 38492085 38492085 insertion of <=200bp - A intron_variant PACA-CA 6 38492220 38492220 single base substitution G C intron_variant PACA-CA 6 38502276 38502276 single base substitution G A intron_variant PACA-CA 6 38503012 38503012 single base substitution G C intron_variant PACA-CA 6 38505901 38505901 single base substitution C T intron_variant PACA-CA 6 38508635 38508635 single base substitution T G intron_variant PACA-CA 6 38509296 38509296 single base substitution C T intron_variant PACA-CA 6 38511425 38511425 single base substitution G A intron_variant PACA-CA 6 38515474 38515474 single base substitution G C intron_variant PACA-CA 6 38515815 38515815 single base substitution T A intron_variant PACA-CA 6 38517870 38517870 single base substitution G A intron_variant PACA-CA 6 38521135 38521135 single base substitution T C intron_variant PACA-CA 6 38524298 38524298 single base substitution T C intron_variant PACA-CA 6 38526866 38526866 single base substitution C T intron_variant PACA-CA 6 38528348 38528348 single base substitution A C intron_variant PACA-CA 6 38528865 38528865 single base substitution T C intron_variant PACA-CA 6 38532592 38532592 single base substitution C T intron_variant PACA-CA 6 38543428 38543428 single base substitution A G intron_variant PACA-CA 6 38546247 38546247 single base substitution A G intron_variant PACA-CA 6 38546761 38546761 single base substitution A C intron_variant PACA-CA 6 38548169 38548169 single base substitution C A exon_variant PACA-CA 6 38548169 38548169 single base substitution C A missense_variant V219L 655G>T PACA-CA 6 38548169 38548169 single base substitution C A missense_variant V228L 682G>T PACA-CA 6 38548169 38548169 single base substitution C A missense_variant V287L 859G>T PACA-CA 6 38548306 38548306 single base substitution T C intron_variant PACA-CA 6 38549839 38549839 single base substitution A T intron_variant PACA-CA 6 38551350 38551350 single base substitution T C intron_variant PACA-CA 6 38554778 38554778 single base substitution G C intron_variant PACA-CA 6 38557777 38557777 single base substitution C G downstream_gene_variant PACA-CA 6 38557777 38557777 single base substitution C G intron_variant PACA-CA 6 38559687 38559687 single base substitution G A downstream_gene_variant PACA-CA 6 38559687 38559687 single base substitution G A intron_variant PACA-CA 6 38560171 38560171 single base substitution T A downstream_gene_variant PACA-CA 6 38560171 38560171 single base substitution T A intron_variant PACA-CA 6 38562673 38562673 single base substitution T A intron_variant PACA-CA 6 38562673 38562673 single base substitution T A upstream_gene_variant PACA-CA 6 38562681 38562681 single base substitution T G intron_variant PACA-CA 6 38562681 38562681 single base substitution T G upstream_gene_variant PACA-CA 6 38562783 38562783 insertion of <=200bp - A intron_variant PACA-CA 6 38562783 38562783 insertion of <=200bp - A upstream_gene_variant PACA-CA 6 38564152 38564152 deletion of <=200bp T - intron_variant PACA-CA 6 38564152 38564152 deletion of <=200bp T - upstream_gene_variant PACA-CA 6 38564449 38564449 single base substitution C T intron_variant PACA-CA 6 38564449 38564449 single base substitution C T upstream_gene_variant PACA-CA 6 38564716 38564716 single base substitution T C intron_variant PACA-CA 6 38564716 38564716 single base substitution T C upstream_gene_variant PACA-CA 6 38565060 38565060 single base substitution A G intron_variant PACA-CA 6 38565060 38565060 single base substitution A G upstream_gene_variant PACA-CA 6 38565848 38565848 single base substitution C T intron_variant PACA-CA 6 38565848 38565848 single base substitution C T missense_variant R8H 23G>A PACA-CA 6 38565848 38565848 single base substitution C T upstream_gene_variant PACA-CA 6 38569586 38569586 insertion of <=200bp - A intron_variant PACA-CA 6 38569586 38569586 insertion of <=200bp - A upstream_gene_variant PACA-CA 6 38576481 38576481 single base substitution T C intron_variant PACA-CA 6 38580128 38580128 single base substitution G A intron_variant PACA-CA 6 38586589 38586589 single base substitution A C intron_variant PACA-CA 6 38588547 38588547 single base substitution T C intron_variant PACA-CA 6 38589228 38589228 single base substitution C A intron_variant PACA-CA 6 38589631 38589631 single base substitution C T intron_variant PACA-CA 6 38589924 38589924 single base substitution A G intron_variant PACA-CA 6 38592123 38592123 single base substitution T C intron_variant PACA-CA 6 38593806 38593806 single base substitution T A intron_variant PACA-CA 6 38599144 38599144 single base substitution C G intron_variant PACA-CA 6 38602352 38602352 single base substitution T A intron_variant PACA-CA 6 38606073 38606073 deletion of <=200bp A - intron_variant PACA-CA 6 38609531 38609531 deletion of <=200bp C - upstream_gene_variant PAEN-AU 6 38134880 38134880 single base substitution A C downstream_gene_variant PAEN-AU 6 38152850 38152850 single base substitution A C intron_variant PAEN-AU 6 38271731 38271731 single base substitution A G intron_variant PAEN-AU 6 38293392 38293392 single base substitution T G intron_variant PAEN-AU 6 38342151 38342151 single base substitution C G intron_variant PAEN-AU 6 38370868 38370868 single base substitution G A intron_variant PAEN-AU 6 38370869 38370869 single base substitution G A intron_variant PAEN-AU 6 38375377 38375377 single base substitution T C intron_variant PAEN-AU 6 38385093 38385093 single base substitution T C intron_variant PAEN-AU 6 38393822 38393822 single base substitution T C intron_variant PAEN-AU 6 38400529 38400529 single base substitution C T intron_variant PAEN-AU 6 38410782 38410782 single base substitution T A intron_variant PAEN-AU 6 38423764 38423764 single base substitution C T intron_variant PAEN-AU 6 38516250 38516250 single base substitution C T intron_variant PAEN-AU 6 38554194 38554194 single base substitution A G intron_variant PAEN-IT 6 38136504 38136504 single base substitution G T 3_prime_UTR_variant PAEN-IT 6 38156258 38156258 single base substitution G A intron_variant PAEN-IT 6 38178701 38178701 single base substitution G T intron_variant PAEN-IT 6 38220693 38220693 single base substitution G A intron_variant PAEN-IT 6 38378152 38378152 single base substitution G C intron_variant PAEN-IT 6 38382182 38382182 single base substitution G C intron_variant PAEN-IT 6 38426686 38426686 single base substitution A T intron_variant PAEN-IT 6 38438750 38438750 single base substitution C A intron_variant PAEN-IT 6 38453633 38453633 single base substitution T C intron_variant PAEN-IT 6 38475966 38475966 single base substitution A C intron_variant PAEN-IT 6 38493784 38493784 single base substitution G T intron_variant PAEN-IT 6 38531084 38531084 single base substitution A G intron_variant PAEN-IT 6 38559675 38559675 single base substitution G A downstream_gene_variant PAEN-IT 6 38559675 38559675 single base substitution G A intron_variant PAEN-IT 6 38601394 38601394 single base substitution T C intron_variant PAEN-IT 6 38606770 38606770 single base substitution G T intron_variant PBCA-DE 6 38144954 38144954 single base substitution C T intron_variant PBCA-DE 6 38146172 38146172 single base substitution C A intron_variant PBCA-DE 6 38147161 38147161 single base substitution G A intron_variant PBCA-DE 6 38174622 38174622 deletion of <=200bp A - intron_variant PBCA-DE 6 38179366 38179366 insertion of <=200bp - AAAA intron_variant PBCA-DE 6 38209142 38209142 single base substitution C T intron_variant PBCA-DE 6 38212254 38212254 deletion of <=200bp T - intron_variant PBCA-DE 6 38214379 38214379 insertion of <=200bp - A intron_variant PBCA-DE 6 38216689 38216689 single base substitution G A intron_variant PBCA-DE 6 38223594 38223594 single base substitution G T intron_variant PBCA-DE 6 38224662 38224662 single base substitution T G intron_variant PBCA-DE 6 38232393 38232393 single base substitution G A intron_variant PBCA-DE 6 38247786 38247786 deletion of <=200bp T - intron_variant PBCA-DE 6 38253580 38253580 single base substitution G T intron_variant PBCA-DE 6 38264578 38264578 single base substitution G A intron_variant PBCA-DE 6 38271119 38271119 single base substitution C T intron_variant PBCA-DE 6 38271709 38271710 deletion of <=200bp GT - intron_variant PBCA-DE 6 38282195 38282195 insertion of <=200bp - T intron_variant PBCA-DE 6 38293753 38293753 single base substitution G A intron_variant PBCA-DE 6 38294909 38294909 deletion of <=200bp T - intron_variant PBCA-DE 6 38296745 38296746 deletion of <=200bp TG - intron_variant PBCA-DE 6 38297222 38297222 single base substitution C T intron_variant PBCA-DE 6 38302401 38302401 single base substitution C A intron_variant PBCA-DE 6 38310798 38310798 single base substitution C T intron_variant PBCA-DE 6 38315448 38315450 deletion of <=200bp CAT - intron_variant PBCA-DE 6 38327820 38327820 single base substitution C T intron_variant PBCA-DE 6 38342122 38342122 single base substitution A G intron_variant PBCA-DE 6 38342162 38342162 single base substitution C T intron_variant PBCA-DE 6 38351053 38351053 single base substitution A T intron_variant PBCA-DE 6 38351054 38351054 single base substitution T A intron_variant PBCA-DE 6 38351873 38351873 single base substitution G A intron_variant PBCA-DE 6 38354248 38354248 single base substitution C T intron_variant PBCA-DE 6 38355819 38355819 single base substitution T G intron_variant PBCA-DE 6 38364471 38364471 single base substitution C T intron_variant PBCA-DE 6 38377282 38377282 single base substitution A T intron_variant PBCA-DE 6 38378497 38378497 single base substitution A G intron_variant PBCA-DE 6 38389540 38389540 single base substitution T A intron_variant PBCA-DE 6 38409366 38409366 insertion of <=200bp - T intron_variant PBCA-DE 6 38417309 38417309 deletion of <=200bp A - intron_variant PBCA-DE 6 38424245 38424245 insertion of <=200bp - A intron_variant PBCA-DE 6 38425380 38425380 single base substitution C A intron_variant PBCA-DE 6 38425381 38425381 single base substitution T G intron_variant PBCA-DE 6 38426352 38426352 single base substitution A G intron_variant PBCA-DE 6 38428575 38428575 insertion of <=200bp - T intron_variant PBCA-DE 6 38429687 38429687 single base substitution C T intron_variant PBCA-DE 6 38429838 38429838 single base substitution C A intron_variant PBCA-DE 6 38432020 38432020 single base substitution G A intron_variant PBCA-DE 6 38432925 38432925 single base substitution G C intron_variant PBCA-DE 6 38453848 38453848 single base substitution C T intron_variant PBCA-DE 6 38481224 38481224 deletion of <=200bp A - intron_variant PBCA-DE 6 38482498 38482498 single base substitution G A intron_variant PBCA-DE 6 38492285 38492285 single base substitution C A intron_variant PBCA-DE 6 38495113 38495113 single base substitution G T intron_variant PBCA-DE 6 38502597 38502597 single base substitution C T intron_variant PBCA-DE 6 38516380 38516380 single base substitution T C intron_variant PBCA-DE 6 38535668 38535668 deletion of <=200bp A - intron_variant PBCA-DE 6 38536154 38536154 single base substitution A G intron_variant PBCA-DE 6 38538295 38538295 single base substitution T C intron_variant PBCA-DE 6 38542841 38542841 single base substitution C A intron_variant PBCA-DE 6 38551407 38551407 single base substitution C A intron_variant PBCA-DE 6 38563128 38563128 insertion of <=200bp - T intron_variant PBCA-DE 6 38563128 38563128 insertion of <=200bp - T upstream_gene_variant PBCA-DE 6 38566699 38566699 single base substitution A T intron_variant PBCA-DE 6 38566699 38566699 single base substitution A T upstream_gene_variant PBCA-DE 6 38567074 38567074 deletion of <=200bp A - intron_variant PBCA-DE 6 38567074 38567074 deletion of <=200bp A - upstream_gene_variant PBCA-DE 6 38571680 38571680 single base substitution T A intron_variant PBCA-DE 6 38577146 38577146 insertion of <=200bp - A intron_variant PBCA-DE 6 38577654 38577654 deletion of <=200bp A - intron_variant PBCA-DE 6 38578721 38578721 single base substitution C T intron_variant PBCA-DE 6 38586167 38586167 single base substitution C A intron_variant PBCA-DE 6 38589747 38589747 single base substitution T C intron_variant PBCA-DE 6 38595638 38595638 single base substitution G T intron_variant PBCA-DE 6 38599664 38599664 single base substitution G A intron_variant PBCA-DE 6 38602353 38602353 single base substitution A T intron_variant PRAD-CA 6 38146785 38146785 single base substitution C T intron_variant PRAD-CA 6 38196492 38196492 single base substitution A G intron_variant PRAD-CA 6 38217083 38217083 single base substitution T G intron_variant PRAD-CA 6 38219022 38219022 single base substitution G A intron_variant PRAD-CA 6 38264987 38264987 single base substitution C A intron_variant PRAD-CA 6 38272336 38272336 single base substitution A C intron_variant PRAD-CA 6 38287645 38287645 single base substitution G T intron_variant PRAD-CA 6 38297345 38297345 single base substitution C T intron_variant PRAD-CA 6 38333394 38333394 single base substitution C T intron_variant PRAD-CA 6 38342122 38342122 single base substitution A G intron_variant PRAD-CA 6 38343666 38343666 single base substitution G A intron_variant PRAD-CA 6 38343667 38343667 single base substitution A G intron_variant PRAD-CA 6 38381619 38381619 single base substitution A T intron_variant PRAD-CA 6 38410793 38410793 single base substitution T A intron_variant PRAD-CA 6 38422150 38422150 single base substitution T C intron_variant PRAD-CA 6 38460671 38460671 single base substitution T C intron_variant PRAD-CA 6 38493235 38493235 single base substitution G A intron_variant PRAD-CA 6 38494477 38494477 single base substitution G C intron_variant PRAD-CA 6 38494747 38494747 single base substitution T C intron_variant PRAD-CA 6 38497859 38497859 single base substitution G A intron_variant PRAD-CA 6 38502918 38502918 single base substitution T A intron_variant PRAD-CA 6 38524334 38524334 single base substitution A T intron_variant PRAD-CA 6 38578817 38578817 single base substitution G C intron_variant PRAD-UK 6 38151267 38151267 single base substitution A G intron_variant PRAD-UK 6 38193492 38193492 single base substitution A T intron_variant PRAD-UK 6 38195858 38195858 single base substitution C T intron_variant PRAD-UK 6 38203461 38203461 single base substitution G A intron_variant PRAD-UK 6 38243176 38243176 single base substitution A G intron_variant PRAD-UK 6 38243690 38243691 deletion of <=200bp TT - intron_variant PRAD-UK 6 38252592 38252592 single base substitution G C intron_variant PRAD-UK 6 38264111 38264111 single base substitution C A intron_variant PRAD-UK 6 38264777 38264777 single base substitution T C intron_variant PRAD-UK 6 38268114 38268114 single base substitution C T intron_variant PRAD-UK 6 38277061 38277061 single base substitution G A intron_variant PRAD-UK 6 38318942 38318942 single base substitution T G intron_variant PRAD-UK 6 38327033 38327033 single base substitution G C intron_variant PRAD-UK 6 38335744 38335744 single base substitution G C intron_variant PRAD-UK 6 38336373 38336373 single base substitution T A intron_variant PRAD-UK 6 38343711 38343726 deletion of <=200bp GAAAGAAGGAAAGAAG - intron_variant PRAD-UK 6 38353267 38353267 single base substitution T C intron_variant PRAD-UK 6 38358542 38358554 deletion of <=200bp TTTAATACAATCG - intron_variant PRAD-UK 6 38360726 38360726 single base substitution C T intron_variant PRAD-UK 6 38364199 38364199 single base substitution G A intron_variant PRAD-UK 6 38391557 38391557 deletion of <=200bp A - intron_variant PRAD-UK 6 38411911 38411911 single base substitution G C intron_variant PRAD-UK 6 38418034 38418047 multiple base substitution (>=2bp and <=200bp) GGTGTTTAGCAGGG GCAA intron_variant PRAD-UK 6 38422684 38422684 single base substitution T G intron_variant PRAD-UK 6 38444515 38444515 single base substitution A C intron_variant PRAD-UK 6 38446339 38446339 single base substitution A T intron_variant PRAD-UK 6 38446470 38446470 single base substitution T A intron_variant PRAD-UK 6 38461952 38461952 single base substitution A C intron_variant PRAD-UK 6 38463269 38463269 single base substitution C A intron_variant PRAD-UK 6 38475183 38475183 single base substitution C G intron_variant PRAD-UK 6 38480291 38480291 single base substitution C G intron_variant PRAD-UK 6 38495170 38495170 single base substitution G C intron_variant PRAD-UK 6 38504878 38504878 single base substitution T C intron_variant PRAD-UK 6 38528891 38528891 single base substitution G A intron_variant PRAD-UK 6 38568699 38568699 single base substitution G C intron_variant PRAD-UK 6 38568699 38568699 single base substitution G C upstream_gene_variant PRAD-UK 6 38569826 38569826 single base substitution G A intron_variant PRAD-UK 6 38569826 38569826 single base substitution G A upstream_gene_variant PRAD-UK 6 38575692 38575692 single base substitution A C intron_variant PRAD-UK 6 38578400 38578400 single base substitution G T intron_variant PRAD-UK 6 38578694 38578694 insertion of <=200bp - G intron_variant PRAD-UK 6 38586185 38586185 single base substitution T A intron_variant PRAD-UK 6 38590247 38590247 single base substitution T A intron_variant PRAD-UK 6 38599772 38599772 single base substitution C T intron_variant PRAD-UK 6 38601136 38601136 single base substitution G C intron_variant PRAD-US 6 38545497 38545497 single base substitution T A splice_acceptor_variant PRAD-US 6 38548004 38548004 single base substitution G A exon_variant PRAD-US 6 38548004 38548004 single base substitution G A stop_gained R274* 820C>T PRAD-US 6 38548004 38548004 single base substitution G A stop_gained R283* 847C>T PRAD-US 6 38548004 38548004 single base substitution G A stop_gained R342* 1024C>T READ-US 6 38560599 38560599 single base substitution G A downstream_gene_variant READ-US 6 38560599 38560599 single base substitution G A exon_variant READ-US 6 38560599 38560599 single base substitution G A synonymous_variant I121I 363C>T READ-US 6 38560599 38560599 single base substitution G A synonymous_variant I130I 390C>T READ-US 6 38560599 38560599 single base substitution G A synonymous_variant I189I 567C>T RECA-EU 6 38136257 38136257 single base substitution A T 3_prime_UTR_variant RECA-EU 6 38154598 38154598 single base substitution G C intron_variant RECA-EU 6 38162239 38162239 single base substitution G T intron_variant RECA-EU 6 38174701 38174701 single base substitution G A intron_variant RECA-EU 6 38176334 38176334 single base substitution C T intron_variant RECA-EU 6 38179130 38179130 single base substitution G T intron_variant RECA-EU 6 38185222 38185222 single base substitution G A intron_variant RECA-EU 6 38190039 38190039 single base substitution T G intron_variant RECA-EU 6 38199793 38199793 single base substitution A G intron_variant RECA-EU 6 38210760 38210760 single base substitution C G intron_variant RECA-EU 6 38224138 38224138 single base substitution A T intron_variant RECA-EU 6 38247264 38247264 single base substitution C A intron_variant RECA-EU 6 38252025 38252025 single base substitution T G intron_variant RECA-EU 6 38254279 38254279 single base substitution T A intron_variant RECA-EU 6 38279921 38279921 single base substitution G A intron_variant RECA-EU 6 38327075 38327075 single base substitution C T intron_variant RECA-EU 6 38348612 38348612 single base substitution C T intron_variant RECA-EU 6 38361001 38361001 single base substitution A T intron_variant RECA-EU 6 38366390 38366390 single base substitution G T intron_variant RECA-EU 6 38369334 38369334 single base substitution G T intron_variant RECA-EU 6 38384737 38384737 single base substitution G T intron_variant RECA-EU 6 38391173 38391173 single base substitution C A intron_variant RECA-EU 6 38407328 38407328 single base substitution G C intron_variant RECA-EU 6 38414252 38414252 single base substitution T A intron_variant RECA-EU 6 38415443 38415443 single base substitution G C intron_variant RECA-EU 6 38436069 38436069 single base substitution A T intron_variant RECA-EU 6 38437486 38437486 single base substitution C A intron_variant RECA-EU 6 38438745 38438745 single base substitution A T intron_variant RECA-EU 6 38443809 38443809 single base substitution G A intron_variant RECA-EU 6 38450572 38450572 single base substitution A T intron_variant RECA-EU 6 38472558 38472558 single base substitution G A intron_variant RECA-EU 6 38475991 38475991 single base substitution A C intron_variant RECA-EU 6 38494607 38494607 single base substitution C G intron_variant RECA-EU 6 38500587 38500587 single base substitution T G intron_variant RECA-EU 6 38509288 38509288 single base substitution G A intron_variant RECA-EU 6 38512028 38512028 single base substitution G T intron_variant RECA-EU 6 38512029 38512029 single base substitution C T intron_variant RECA-EU 6 38527449 38527449 single base substitution A T intron_variant RECA-EU 6 38527845 38527845 single base substitution A T intron_variant RECA-EU 6 38527847 38527847 single base substitution A T intron_variant RECA-EU 6 38536538 38536538 single base substitution T A intron_variant RECA-EU 6 38537745 38537745 single base substitution G A intron_variant RECA-EU 6 38554577 38554577 single base substitution G A intron_variant RECA-EU 6 38559399 38559399 single base substitution T A downstream_gene_variant RECA-EU 6 38559399 38559399 single base substitution T A intron_variant RECA-EU 6 38562461 38562461 single base substitution A T intron_variant RECA-EU 6 38562461 38562461 single base substitution A T upstream_gene_variant RECA-EU 6 38566931 38566931 single base substitution A T intron_variant RECA-EU 6 38566931 38566931 single base substitution A T upstream_gene_variant RECA-EU 6 38581103 38581103 single base substitution A T intron_variant RECA-EU 6 38600949 38600949 single base substitution C A intron_variant RECA-EU 6 38605460 38605460 single base substitution G A intron_variant SKCA-BR 6 38131926 38131926 single base substitution G T downstream_gene_variant SKCA-BR 6 38132711 38132711 single base substitution G A downstream_gene_variant SKCA-BR 6 38135101 38135101 single base substitution T G downstream_gene_variant SKCA-BR 6 38139622 38139634 deletion of <=200bp CAAAAAAAAAAAA - 3_prime_UTR_variant SKCA-BR 6 38139622 38139634 deletion of <=200bp CAAAAAAAAAAAA - downstream_gene_variant SKCA-BR 6 38140755 38140755 single base substitution C G 3_prime_UTR_variant SKCA-BR 6 38140755 38140755 single base substitution C G downstream_gene_variant SKCA-BR 6 38146446 38146446 single base substitution A T intron_variant SKCA-BR 6 38149222 38149222 single base substitution C T intron_variant SKCA-BR 6 38150055 38150055 single base substitution C T intron_variant SKCA-BR 6 38154941 38154941 single base substitution G A intron_variant SKCA-BR 6 38160658 38160658 single base substitution G A intron_variant SKCA-BR 6 38162239 38162239 single base substitution G A intron_variant SKCA-BR 6 38165058 38165058 single base substitution C T intron_variant SKCA-BR 6 38165857 38165857 single base substitution G A intron_variant SKCA-BR 6 38165945 38165945 single base substitution G A intron_variant SKCA-BR 6 38166332 38166332 single base substitution G A intron_variant SKCA-BR 6 38166806 38166806 single base substitution G A intron_variant SKCA-BR 6 38167301 38167301 single base substitution G A intron_variant SKCA-BR 6 38172441 38172441 single base substitution G A intron_variant SKCA-BR 6 38173136 38173136 single base substitution A C intron_variant SKCA-BR 6 38174108 38174108 single base substitution C T intron_variant SKCA-BR 6 38174109 38174109 single base substitution C T intron_variant SKCA-BR 6 38177569 38177569 single base substitution G A intron_variant SKCA-BR 6 38177751 38177751 single base substitution A C intron_variant SKCA-BR 6 38181685 38181685 single base substitution T A intron_variant SKCA-BR 6 38181800 38181800 single base substitution A C intron_variant SKCA-BR 6 38184331 38184331 single base substitution T G intron_variant SKCA-BR 6 38184928 38184929 deletion of <=200bp CA - intron_variant SKCA-BR 6 38186910 38186910 single base substitution T C intron_variant SKCA-BR 6 38188698 38188698 single base substitution A T intron_variant SKCA-BR 6 38196127 38196127 insertion of <=200bp - CCAA intron_variant SKCA-BR 6 38196970 38196970 insertion of <=200bp - CA intron_variant SKCA-BR 6 38197735 38197735 single base substitution A T intron_variant SKCA-BR 6 38203796 38203796 single base substitution G A intron_variant SKCA-BR 6 38211856 38211856 single base substitution C T intron_variant SKCA-BR 6 38211972 38211972 single base substitution G A intron_variant SKCA-BR 6 38214483 38214483 single base substitution C T intron_variant SKCA-BR 6 38216014 38216014 single base substitution G A intron_variant SKCA-BR 6 38216694 38216694 single base substitution A G intron_variant SKCA-BR 6 38217534 38217534 insertion of <=200bp - CA intron_variant SKCA-BR 6 38222018 38222018 single base substitution A G intron_variant SKCA-BR 6 38223076 38223076 single base substitution T A intron_variant SKCA-BR 6 38225617 38225617 single base substitution G A intron_variant SKCA-BR 6 38225628 38225628 single base substitution G A intron_variant SKCA-BR 6 38228093 38228093 single base substitution G A intron_variant SKCA-BR 6 38234367 38234381 deletion of <=200bp AGAAAGGAAAGAAAG - intron_variant SKCA-BR 6 38234380 38234381 deletion of <=200bp AG - intron_variant SKCA-BR 6 38234381 38234389 deletion of <=200bp GGAAAGAAA - intron_variant SKCA-BR 6 38235337 38235337 single base substitution C T intron_variant SKCA-BR 6 38235900 38235900 single base substitution T C intron_variant SKCA-BR 6 38238436 38238436 single base substitution A C intron_variant SKCA-BR 6 38239749 38239749 single base substitution T G intron_variant SKCA-BR 6 38241736 38241736 single base substitution A T intron_variant SKCA-BR 6 38243148 38243148 single base substitution T C intron_variant SKCA-BR 6 38244145 38244145 single base substitution G A intron_variant SKCA-BR 6 38244373 38244373 single base substitution A T intron_variant SKCA-BR 6 38244834 38244834 single base substitution G A intron_variant SKCA-BR 6 38245522 38245522 single base substitution G A intron_variant SKCA-BR 6 38245646 38245646 single base substitution C T intron_variant SKCA-BR 6 38252535 38252535 single base substitution A G intron_variant SKCA-BR 6 38253691 38253691 single base substitution G A intron_variant SKCA-BR 6 38255173 38255173 single base substitution C T intron_variant SKCA-BR 6 38258430 38258430 single base substitution C T intron_variant SKCA-BR 6 38259799 38259799 single base substitution G A intron_variant SKCA-BR 6 38260426 38260426 single base substitution G A intron_variant SKCA-BR 6 38260987 38260987 single base substitution G A intron_variant SKCA-BR 6 38261906 38261906 single base substitution T C intron_variant SKCA-BR 6 38265824 38265824 single base substitution G A intron_variant SKCA-BR 6 38269005 38269005 single base substitution A C intron_variant SKCA-BR 6 38270261 38270275 deletion of <=200bp GTATATATATATATA - intron_variant SKCA-BR 6 38270904 38270904 single base substitution G A intron_variant SKCA-BR 6 38274138 38274138 single base substitution T C intron_variant SKCA-BR 6 38278569 38278569 insertion of <=200bp - CTTTGT intron_variant SKCA-BR 6 38282433 38282433 single base substitution C T intron_variant SKCA-BR 6 38282709 38282709 single base substitution T C intron_variant SKCA-BR 6 38285127 38285127 single base substitution G A intron_variant SKCA-BR 6 38285602 38285602 single base substitution C A intron_variant SKCA-BR 6 38291787 38291787 single base substitution G A intron_variant SKCA-BR 6 38291811 38291811 single base substitution G A intron_variant SKCA-BR 6 38299632 38299632 single base substitution G A intron_variant SKCA-BR 6 38301779 38301779 single base substitution G A intron_variant SKCA-BR 6 38302060 38302060 single base substitution G T intron_variant SKCA-BR 6 38302552 38302552 single base substitution G A intron_variant SKCA-BR 6 38303063 38303063 single base substitution C T intron_variant SKCA-BR 6 38307398 38307398 single base substitution G A intron_variant SKCA-BR 6 38309303 38309303 single base substitution G A intron_variant SKCA-BR 6 38310269 38310269 single base substitution G A intron_variant SKCA-BR 6 38310429 38310429 single base substitution G A intron_variant SKCA-BR 6 38312396 38312396 single base substitution G A intron_variant SKCA-BR 6 38313319 38313319 single base substitution C A intron_variant SKCA-BR 6 38319280 38319280 insertion of <=200bp - GTTT intron_variant SKCA-BR 6 38327659 38327659 single base substitution G A intron_variant SKCA-BR 6 38329654 38329654 single base substitution A G intron_variant SKCA-BR 6 38337109 38337109 single base substitution A G intron_variant SKCA-BR 6 38338669 38338670 deletion of <=200bp AT - intron_variant SKCA-BR 6 38339969 38339969 single base substitution A C intron_variant SKCA-BR 6 38341338 38341338 single base substitution C T intron_variant SKCA-BR 6 38342045 38342046 deletion of <=200bp GA - intron_variant SKCA-BR 6 38342080 38342080 single base substitution T C intron_variant SKCA-BR 6 38343667 38343667 insertion of <=200bp - AAAAGAAAG intron_variant SKCA-BR 6 38343667 38343667 insertion of <=200bp - AAAAG intron_variant SKCA-BR 6 38343726 38343726 single base substitution G A intron_variant SKCA-BR 6 38347084 38347084 single base substitution A T intron_variant SKCA-BR 6 38347720 38347720 single base substitution G A intron_variant SKCA-BR 6 38350945 38350945 single base substitution C T intron_variant SKCA-BR 6 38351832 38351832 single base substitution C T intron_variant SKCA-BR 6 38352544 38352544 single base substitution G A intron_variant SKCA-BR 6 38353374 38353374 single base substitution T C intron_variant SKCA-BR 6 38354406 38354407 deletion of <=200bp CT - intron_variant SKCA-BR 6 38358641 38358645 deletion of <=200bp CTTTA - intron_variant SKCA-BR 6 38361286 38361286 single base substitution T A intron_variant SKCA-BR 6 38363653 38363653 single base substitution C T intron_variant SKCA-BR 6 38363808 38363808 single base substitution G A intron_variant SKCA-BR 6 38364229 38364229 single base substitution G A intron_variant SKCA-BR 6 38365050 38365050 single base substitution C A intron_variant SKCA-BR 6 38371078 38371078 single base substitution T C intron_variant SKCA-BR 6 38372883 38372883 single base substitution G A intron_variant SKCA-BR 6 38374429 38374429 single base substitution G A intron_variant SKCA-BR 6 38374451 38374451 single base substitution C T intron_variant SKCA-BR 6 38376823 38376823 single base substitution C T intron_variant SKCA-BR 6 38377413 38377413 single base substitution A G intron_variant SKCA-BR 6 38378358 38378358 single base substitution T C intron_variant SKCA-BR 6 38380817 38380817 single base substitution G A intron_variant SKCA-BR 6 38384113 38384114 deletion of <=200bp CT - intron_variant SKCA-BR 6 38385576 38385579 deletion of <=200bp GAAA - intron_variant SKCA-BR 6 38385578 38385578 single base substitution A G intron_variant SKCA-BR 6 38388428 38388428 single base substitution T A intron_variant SKCA-BR 6 38388845 38388845 insertion of <=200bp - GTTTTAGAAAACAGT intron_variant SKCA-BR 6 38390725 38390725 single base substitution C T intron_variant SKCA-BR 6 38392891 38392892 deletion of <=200bp CT - intron_variant SKCA-BR 6 38393703 38393703 insertion of <=200bp - TACAC intron_variant SKCA-BR 6 38393937 38393937 single base substitution G A intron_variant SKCA-BR 6 38394203 38394203 single base substitution G A intron_variant SKCA-BR 6 38395095 38395095 single base substitution C T intron_variant SKCA-BR 6 38395677 38395677 single base substitution T G intron_variant SKCA-BR 6 38397088 38397088 single base substitution A G intron_variant SKCA-BR 6 38397235 38397235 insertion of <=200bp - AAAT intron_variant SKCA-BR 6 38397248 38397248 single base substitution G A intron_variant SKCA-BR 6 38397252 38397252 single base substitution G A intron_variant SKCA-BR 6 38401307 38401307 single base substitution A C intron_variant SKCA-BR 6 38402976 38402976 single base substitution T G intron_variant SKCA-BR 6 38409050 38409050 single base substitution C T intron_variant SKCA-BR 6 38410776 38410776 single base substitution G A intron_variant SKCA-BR 6 38412800 38412800 single base substitution A G intron_variant SKCA-BR 6 38412833 38412833 single base substitution A G intron_variant SKCA-BR 6 38412880 38412880 single base substitution A C intron_variant SKCA-BR 6 38414387 38414387 single base substitution C G intron_variant SKCA-BR 6 38416187 38416187 single base substitution G A intron_variant SKCA-BR 6 38417433 38417433 single base substitution C A intron_variant SKCA-BR 6 38419665 38419665 single base substitution G A intron_variant SKCA-BR 6 38421178 38421178 single base substitution C T intron_variant SKCA-BR 6 38425236 38425236 single base substitution G A intron_variant SKCA-BR 6 38432261 38432261 insertion of <=200bp - ATTTTC intron_variant SKCA-BR 6 38432492 38432492 single base substitution G A intron_variant SKCA-BR 6 38433503 38433537 deletion of <=200bp ATATATATATATATATATATATATATATATGTATG - intron_variant SKCA-BR 6 38433529 38433533 deletion of <=200bp ATATG - intron_variant SKCA-BR 6 38434059 38434068 deletion of <=200bp CTTTTTTTTT - intron_variant SKCA-BR 6 38437098 38437098 insertion of <=200bp - CT intron_variant SKCA-BR 6 38437367 38437367 single base substitution T C intron_variant SKCA-BR 6 38438882 38438882 single base substitution G A intron_variant SKCA-BR 6 38440290 38440290 single base substitution G T intron_variant SKCA-BR 6 38441680 38441680 single base substitution T A intron_variant SKCA-BR 6 38444497 38444497 single base substitution G A intron_variant SKCA-BR 6 38445283 38445303 deletion of <=200bp AGAGTTATCTTTATCTGAAAT - intron_variant SKCA-BR 6 38445370 38445370 single base substitution C T intron_variant SKCA-BR 6 38446914 38446914 single base substitution C T intron_variant SKCA-BR 6 38453990 38453990 single base substitution T G intron_variant SKCA-BR 6 38456263 38456263 single base substitution G A intron_variant SKCA-BR 6 38458325 38458325 single base substitution A C intron_variant SKCA-BR 6 38460218 38460218 single base substitution G A intron_variant SKCA-BR 6 38460219 38460219 single base substitution G A intron_variant SKCA-BR 6 38461352 38461352 single base substitution A T intron_variant SKCA-BR 6 38466542 38466542 single base substitution A C intron_variant SKCA-BR 6 38479116 38479117 deletion of <=200bp CT - intron_variant SKCA-BR 6 38479182 38479182 single base substitution G A intron_variant SKCA-BR 6 38480914 38480914 single base substitution T C intron_variant SKCA-BR 6 38484167 38484167 single base substitution G A intron_variant SKCA-BR 6 38488095 38488095 single base substitution G A intron_variant SKCA-BR 6 38488305 38488305 single base substitution G A intron_variant SKCA-BR 6 38489834 38489834 single base substitution A C intron_variant SKCA-BR 6 38492994 38492994 single base substitution G A intron_variant SKCA-BR 6 38493061 38493061 single base substitution G A intron_variant SKCA-BR 6 38493155 38493155 single base substitution A T intron_variant SKCA-BR 6 38493397 38493397 single base substitution G A intron_variant SKCA-BR 6 38496458 38496458 single base substitution G A intron_variant SKCA-BR 6 38499078 38499078 single base substitution T C intron_variant SKCA-BR 6 38499079 38499079 single base substitution G T intron_variant SKCA-BR 6 38500560 38500560 single base substitution C A intron_variant SKCA-BR 6 38500890 38500890 single base substitution A T intron_variant SKCA-BR 6 38502251 38502251 insertion of <=200bp - CAA intron_variant SKCA-BR 6 38502513 38502513 single base substitution G A intron_variant SKCA-BR 6 38503133 38503133 single base substitution G A intron_variant SKCA-BR 6 38505029 38505029 single base substitution G A intron_variant SKCA-BR 6 38506957 38506957 single base substitution C A intron_variant SKCA-BR 6 38507513 38507513 single base substitution A G intron_variant SKCA-BR 6 38507906 38507906 single base substitution T G intron_variant SKCA-BR 6 38509180 38509180 single base substitution G A intron_variant SKCA-BR 6 38511444 38511444 single base substitution A C intron_variant SKCA-BR 6 38513556 38513556 single base substitution A C intron_variant SKCA-BR 6 38516200 38516200 single base substitution C T intron_variant SKCA-BR 6 38518901 38518901 insertion of <=200bp - CTTTA intron_variant SKCA-BR 6 38524181 38524181 single base substitution G A intron_variant SKCA-BR 6 38524322 38524332 deletion of <=200bp TGTGTGAGAGA - intron_variant SKCA-BR 6 38526033 38526033 insertion of <=200bp - TA intron_variant SKCA-BR 6 38532589 38532589 single base substitution A G intron_variant SKCA-BR 6 38537362 38537362 single base substitution C T intron_variant SKCA-BR 6 38537552 38537552 insertion of <=200bp - CG intron_variant SKCA-BR 6 38537566 38537566 single base substitution A G intron_variant SKCA-BR 6 38537574 38537574 single base substitution G T intron_variant SKCA-BR 6 38537593 38537593 single base substitution C T intron_variant SKCA-BR 6 38537606 38537606 single base substitution G A intron_variant SKCA-BR 6 38537629 38537629 single base substitution C A intron_variant SKCA-BR 6 38537863 38537863 single base substitution G A intron_variant SKCA-BR 6 38542677 38542677 single base substitution C T intron_variant SKCA-BR 6 38543827 38543827 single base substitution T G intron_variant SKCA-BR 6 38546583 38546583 single base substitution C A intron_variant SKCA-BR 6 38546927 38546927 single base substitution G A intron_variant SKCA-BR 6 38552080 38552080 single base substitution G A intron_variant SKCA-BR 6 38553145 38553145 single base substitution G C intron_variant SKCA-BR 6 38553147 38553147 single base substitution T C intron_variant SKCA-BR 6 38556940 38556940 single base substitution T C downstream_gene_variant SKCA-BR 6 38556940 38556940 single base substitution T C intron_variant SKCA-BR 6 38557905 38557905 single base substitution G A downstream_gene_variant SKCA-BR 6 38557905 38557905 single base substitution G A intron_variant SKCA-BR 6 38558470 38558470 single base substitution T C downstream_gene_variant SKCA-BR 6 38558470 38558470 single base substitution T C intron_variant SKCA-BR 6 38560154 38560154 single base substitution G A downstream_gene_variant SKCA-BR 6 38560154 38560154 single base substitution G A intron_variant SKCA-BR 6 38561351 38561351 single base substitution G A downstream_gene_variant SKCA-BR 6 38561351 38561351 single base substitution G A intron_variant SKCA-BR 6 38562699 38562699 single base substitution G A intron_variant SKCA-BR 6 38562699 38562699 single base substitution G A upstream_gene_variant SKCA-BR 6 38563205 38563205 single base substitution G A intron_variant SKCA-BR 6 38563205 38563205 single base substitution G A upstream_gene_variant SKCA-BR 6 38572827 38572827 insertion of <=200bp - CT intron_variant SKCA-BR 6 38573188 38573188 single base substitution A T intron_variant SKCA-BR 6 38582033 38582033 single base substitution T C intron_variant SKCA-BR 6 38588474 38588474 single base substitution G T intron_variant SKCA-BR 6 38589313 38589313 single base substitution G A intron_variant SKCA-BR 6 38589494 38589494 single base substitution G A intron_variant SKCA-BR 6 38589590 38589590 single base substitution G A intron_variant SKCA-BR 6 38594338 38594338 single base substitution G A intron_variant SKCA-BR 6 38594896 38594896 single base substitution C T intron_variant SKCA-BR 6 38595126 38595126 single base substitution A C intron_variant SKCA-BR 6 38600025 38600025 single base substitution T A intron_variant SKCA-BR 6 38604427 38604427 single base substitution T C intron_variant SKCA-BR 6 38612520 38612520 single base substitution A G upstream_gene_variant SKCM-US 6 38142888 38142888 single base substitution G A 3_prime_UTR_variant SKCM-US 6 38142888 38142888 single base substitution G A missense_variant S503L 1508C>T SKCM-US 6 38142888 38142888 single base substitution G A missense_variant S541L 1622C>T SKCM-US 6 38142888 38142888 single base substitution G A missense_variant S571L 1712C>T SKCM-US 6 38160295 38160295 single base substitution C T splice_region_variant SKCM-US 6 38256186 38256186 single base substitution C T 3_prime_UTR_variant SKCM-US 6 38256186 38256186 single base substitution C T missense_variant G371E 1112G>A SKCM-US 6 38256186 38256186 single base substitution C T missense_variant G409E 1226G>A SKCM-US 6 38256186 38256186 single base substitution C T missense_variant G439E 1316G>A SKCM-US 6 38312841 38312841 single base substitution T C 3_prime_UTR_variant SKCM-US 6 38312841 38312841 single base substitution T C missense_variant T327A 979A>G SKCM-US 6 38312841 38312841 single base substitution T C missense_variant T365A 1093A>G SKCM-US 6 38312841 38312841 single base substitution T C missense_variant T395A 1183A>G SKCM-US 6 38545387 38545387 single base substitution G A exon_variant SKCM-US 6 38545387 38545387 single base substitution G A synonymous_variant A313A 939C>T SKCM-US 6 38545387 38545387 single base substitution G A synonymous_variant A322A 966C>T SKCM-US 6 38545387 38545387 single base substitution G A synonymous_variant A381A 1143C>T SKCM-US 6 38547997 38547997 single base substitution C G exon_variant SKCM-US 6 38547997 38547997 single base substitution C G missense_variant S276T 827G>C SKCM-US 6 38547997 38547997 single base substitution C G missense_variant S285T 854G>C SKCM-US 6 38547997 38547997 single base substitution C G missense_variant S344T 1031G>C SKCM-US 6 38548061 38548061 single base substitution C T exon_variant SKCM-US 6 38548061 38548061 single base substitution C T missense_variant E255K 763G>A SKCM-US 6 38548061 38548061 single base substitution C T missense_variant E264K 790G>A SKCM-US 6 38548061 38548061 single base substitution C T missense_variant E323K 967G>A SKCM-US 6 38560427 38560427 single base substitution G A downstream_gene_variant SKCM-US 6 38560427 38560427 single base substitution G A exon_variant SKCM-US 6 38560427 38560427 single base substitution G A missense_variant P179S 535C>T SKCM-US 6 38560427 38560427 single base substitution G A missense_variant P188S 562C>T SKCM-US 6 38560427 38560427 single base substitution G A missense_variant P247S 739C>T SKCM-US 6 38560550 38560550 single base substitution A G downstream_gene_variant SKCM-US 6 38560550 38560550 single base substitution A G exon_variant SKCM-US 6 38560550 38560550 single base substitution A G synonymous_variant L138L 412T>C SKCM-US 6 38560550 38560550 single base substitution A G synonymous_variant L147L 439T>C SKCM-US 6 38560550 38560550 single base substitution A G synonymous_variant L206L 616T>C SKCM-US 6 38560556 38560556 single base substitution G A downstream_gene_variant SKCM-US 6 38560556 38560556 single base substitution G A exon_variant SKCM-US 6 38560556 38560556 single base substitution G A synonymous_variant L136L 406C>T SKCM-US 6 38560556 38560556 single base substitution G A synonymous_variant L145L 433C>T SKCM-US 6 38560556 38560556 single base substitution G A synonymous_variant L204L 610C>T SKCM-US 6 38561815 38561815 single base substitution A C downstream_gene_variant SKCM-US 6 38561815 38561815 single base substitution A C exon_variant SKCM-US 6 38561815 38561815 single base substitution A C synonymous_variant T158T 474T>G SKCM-US 6 38561815 38561815 single base substitution A C synonymous_variant T90T 270T>G SKCM-US 6 38561815 38561815 single base substitution A C synonymous_variant T99T 297T>G SKCM-US 6 38561937 38561937 single base substitution G A downstream_gene_variant SKCM-US 6 38561937 38561937 single base substitution G A exon_variant SKCM-US 6 38561937 38561937 single base substitution G A missense_variant H118Y 352C>T SKCM-US 6 38561937 38561937 single base substitution G A missense_variant H50Y 148C>T SKCM-US 6 38561937 38561937 single base substitution G A missense_variant H59Y 175C>T SKCM-US 6 38565687 38565687 single base substitution G A splice_region_variant SKCM-US 6 38565687 38565687 single base substitution G A stop_gained R62* 184C>T SKCM-US 6 38565687 38565687 single base substitution G A upstream_gene_variant SKCM-US 6 38565854 38565854 single base substitution G A intron_variant SKCM-US 6 38565854 38565854 single base substitution G A missense_variant P6L 17C>T SKCM-US 6 38565854 38565854 single base substitution G A upstream_gene_variant STAD-US 6 38142774 38142774 single base substitution C T 3_prime_UTR_variant STAD-US 6 38142774 38142774 single base substitution C T missense_variant R541Q 1622G>A STAD-US 6 38142774 38142774 single base substitution C T missense_variant R579Q 1736G>A STAD-US 6 38142774 38142774 single base substitution C T missense_variant R609Q 1826G>A STAD-US 6 38160312 38160312 single base substitution G A 3_prime_UTR_variant STAD-US 6 38160312 38160312 single base substitution G A missense_variant H474Y 1420C>T STAD-US 6 38160312 38160312 single base substitution G A missense_variant H512Y 1534C>T STAD-US 6 38160312 38160312 single base substitution G A missense_variant H542Y 1624C>T STAD-US 6 38548022 38548022 single base substitution G A exon_variant STAD-US 6 38548022 38548022 single base substitution G A missense_variant R268W 802C>T STAD-US 6 38548022 38548022 single base substitution G A missense_variant R277W 829C>T STAD-US 6 38548022 38548022 single base substitution G A missense_variant R336W 1006C>T STAD-US 6 38560367 38560367 single base substitution A G downstream_gene_variant STAD-US 6 38560367 38560367 single base substitution A G exon_variant STAD-US 6 38560367 38560367 single base substitution A G missense_variant Y199H 595T>C STAD-US 6 38560367 38560367 single base substitution A G missense_variant Y208H 622T>C STAD-US 6 38560367 38560367 single base substitution A G missense_variant Y267H 799T>C STAD-US 6 38560397 38560397 single base substitution G T downstream_gene_variant STAD-US 6 38560397 38560397 single base substitution G T exon_variant STAD-US 6 38560397 38560397 single base substitution G T synonymous_variant R189R 565C>A STAD-US 6 38560397 38560397 single base substitution G T synonymous_variant R198R 592C>A STAD-US 6 38560397 38560397 single base substitution G T synonymous_variant R257R 769C>A STAD-US 6 38560444 38560444 single base substitution G A downstream_gene_variant STAD-US 6 38560444 38560444 single base substitution G A exon_variant STAD-US 6 38560444 38560444 single base substitution G A missense_variant P173L 518C>T STAD-US 6 38560444 38560444 single base substitution G A missense_variant P182L 545C>T STAD-US 6 38560444 38560444 single base substitution G A missense_variant P241L 722C>T STAD-US 6 38561911 38561911 single base substitution C T downstream_gene_variant STAD-US 6 38561911 38561911 single base substitution C T exon_variant STAD-US 6 38561911 38561911 single base substitution C T synonymous_variant E126E 378G>A STAD-US 6 38561911 38561911 single base substitution C T synonymous_variant E58E 174G>A STAD-US 6 38561911 38561911 single base substitution C T synonymous_variant E67E 201G>A STAD-US 6 38561952 38561952 single base substitution A G downstream_gene_variant STAD-US 6 38561952 38561952 single base substitution A G exon_variant STAD-US 6 38561952 38561952 single base substitution A G missense_variant F113L 337T>C STAD-US 6 38561952 38561952 single base substitution A G missense_variant F45L 133T>C STAD-US 6 38561952 38561952 single base substitution A G missense_variant F54L 160T>C STAD-US 6 38562036 38562036 single base substitution C T exon_variant STAD-US 6 38562036 38562036 single base substitution C T missense_variant A17T 49G>A STAD-US 6 38562036 38562036 single base substitution C T missense_variant A26T 76G>A STAD-US 6 38562036 38562036 single base substitution C T missense_variant A85T 253G>A STAD-US 6 38562049 38562049 single base substitution G T exon_variant STAD-US 6 38562049 38562049 single base substitution G T synonymous_variant L12L 36C>A STAD-US 6 38562049 38562049 single base substitution G T synonymous_variant L21L 63C>A STAD-US 6 38562049 38562049 single base substitution G T synonymous_variant L80L 240C>A STAD-US 6 38565763 38565763 single base substitution G A 5_prime_UTR_variant STAD-US 6 38565763 38565763 single base substitution G A synonymous_variant G36G 108C>T STAD-US 6 38565763 38565763 single base substitution G A upstream_gene_variant THCA-SA 6 38136622 38136622 single base substitution C T 3_prime_UTR_variant THCA-SA 6 38142004 38142004 single base substitution G T 3_prime_UTR_variant THCA-SA 6 38142004 38142004 single base substitution G T downstream_gene_variant UCEC-US 6 38142950 38142950 single base substitution G A 3_prime_UTR_variant UCEC-US 6 38142950 38142950 single base substitution G A synonymous_variant H482H 1446C>T UCEC-US 6 38142950 38142950 single base substitution G A synonymous_variant H520H 1560C>T UCEC-US 6 38142950 38142950 single base substitution G A synonymous_variant H550H 1650C>T UCEC-US 6 38256131 38256131 single base substitution C A 3_prime_UTR_variant UCEC-US 6 38256131 38256131 single base substitution C A missense_variant W389C 1167G>T UCEC-US 6 38256131 38256131 single base substitution C A missense_variant W427C 1281G>T UCEC-US 6 38256131 38256131 single base substitution C A missense_variant W457C 1371G>T UCEC-US 6 38256151 38256151 single base substitution C T 3_prime_UTR_variant UCEC-US 6 38256151 38256151 single base substitution C T missense_variant D383N 1147G>A UCEC-US 6 38256151 38256151 single base substitution C T missense_variant D421N 1261G>A UCEC-US 6 38256151 38256151 single base substitution C T missense_variant D451N 1351G>A UCEC-US 6 38312862 38312862 single base substitution G A 3_prime_UTR_variant UCEC-US 6 38312862 38312862 single base substitution G A stop_gained R320* 958C>T UCEC-US 6 38312862 38312862 single base substitution G A stop_gained R358* 1072C>T UCEC-US 6 38312862 38312862 single base substitution G A stop_gained R388* 1162C>T UCEC-US 6 38548205 38548205 single base substitution C A exon_variant UCEC-US 6 38548205 38548205 single base substitution C A stop_gained E207* 619G>T UCEC-US 6 38548205 38548205 single base substitution C A stop_gained E216* 646G>T UCEC-US 6 38548205 38548205 single base substitution C A stop_gained E275* 823G>T UCEC-US 6 38560565 38560565 single base substitution C A downstream_gene_variant UCEC-US 6 38560565 38560565 single base substitution C A exon_variant UCEC-US 6 38560565 38560565 single base substitution C A missense_variant D133Y 397G>T UCEC-US 6 38560565 38560565 single base substitution C A missense_variant D142Y 424G>T UCEC-US 6 38560565 38560565 single base substitution C A missense_variant D201Y 601G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D9-A1JW-06 COSM3076756 c.1508C>T p.S503L Substitution - Missense 6:38175112-38175112 - CSCC-29-T COSM4458119 c.868C>T p.L290F Substitution - Missense 6:38577682-38577682 - ATL049 COSM5710101 c.1412T>C p.V471A Substitution - Missense 6:38192544-38192544 - HCC2998 COSM1078743 c.397G>T p.D133Y Substitution - Missense 6:38592789-38592789 - TCGA-D8-A1XK-01 COSM3830402 c.33T>C p.P11P Substitution - coding silent 6:38594276-38594276 - TCGA-A8-A06Q-01 COSM451386 c.755C>T p.S252F Substitution - Missense 6:38580293-38580293 - KM12 COSM3076748 c.1621C>T p.R541W Substitution - Missense 6:38174999-38174999 - TCGA-FC-7961-01 COSM484016 c.831-2A>T p.? Unknown 6:38577721-38577721 - S02292 COSM5688108 c.1336G>T p.D446Y Substitution - Missense 6:38256431-38256431 - 587316 COSM1185044 c.280T>C p.C94R Substitution - Missense 6:38594029-38594029 - SC_9081 COSM5548019 c.1060+4_1060+7delAGTA p.? Unknown 6:38344977-38344980 - TCGA-14-3476-01 COSM3411048 c.1116C>A p.V372V Substitution - coding silent 6:38288406-38288406 - T3021 COSM4666364 c.683T>C p.L228S Substitution - Missense 6:38580365-38580365 - CHC1712T COSM4791977 c.430C>T p.H144Y Substitution - Missense 6:38592756-38592756 - TCGA-CD-A4MJ-01 COSM3873647 c.565C>A p.R189R Substitution - coding silent 6:38592621-38592621 - TCGA-EE-A2GO-06 COSM3626456 c.412T>C p.L138L Substitution - coding silent 6:38592774-38592774 - TCGA-EE-A3AG-06 COSM3626452 c.827G>C p.S276T Substitution - Missense 6:38580221-38580221 - PD24202a COSM5774271 c.808C>G p.L270V Substitution - Missense 6:38580240-38580240 - TCGA-G4-6586-01 COSM1444183 c.1496delA p.N499fs*>46 Deletion - Frameshift 6:38175124-38175124 - TCGA-EE-A2GB-06 COSM3626454 c.535C>T p.P179S Substitution - Missense 6:38592651-38592651 - TCGA-HU-A4G8-01 COSM3873628 c.1622G>A p.R541Q Substitution - Missense 6:38174998-38174998 - ESCC-184T COSM3941726 c.1019T>A p.M340K Substitution - Missense 6:38345025-38345025 - TCGA-EI-6917-01 COSM3430597 c.363C>T p.I121I Substitution - coding silent 6:38592823-38592823 - OSCC-GB_00250111 COSM3715498 c.646G>T p.A216S Substitution - Missense 6:38580402-38580402 - HCC2998 COSM3076776 c.1021T>C p.F341L Substitution - Missense 6:38345023-38345023 - PD9604a COSM5792622 c.1117A>G p.S373G Substitution - Missense 6:38288405-38288405 - ESCC_143 COSM5644382 c.1531G>A p.A511T Substitution - Missense 6:38175089-38175089 - TCGA-BR-4257-01 COSM3873649 c.518C>T p.P173L Substitution - Missense 6:38592668-38592668 - TCGA-BR-A4QL-01 COSM3873643 c.802C>T p.R268W Substitution - Missense 6:38580246-38580246 - 381_T COSM3949150 c.202A>G p.I68V Substitution - Missense 6:38594107-38594107 - BD236T COSM4435890 c.1557G>A p.A519A Substitution - coding silent 6:38175063-38175063 - CSCC-44-T COSM4513167 c.725C>G p.S242* Substitution - Nonsense 6:38580323-38580323 - TCGA-D3-A2JO-06 COSM3626439 c.1437G>A p.E479E Substitution - coding silent 6:38192519-38192519 - TCGA-BR-8683-01 COSM3873651 c.174G>A p.E58E Substitution - coding silent 6:38594135-38594135 - TCGA-B5-A0JY-01 COSM1078743 c.397G>T p.D133Y Substitution - Missense 6:38592789-38592789 - 2334191 COSM318958 c.1630C>A p.Q544K Substitution - Missense 6:38174990-38174990 - TCGA-BR-6452-01 COSM3873645 c.595T>C p.Y199H Substitution - Missense 6:38592591-38592591 - CSCC-27-T COSM4565694 c.36_37CC>TT p.Q13* Substitution - Nonsense 6:38594272-38594273 - sysucc-1317T COSM1185042 c.565C>T p.R189* Substitution - Nonsense 6:38592621-38592621 - HCC2998 COSM1078743 c.397G>T p.D133Y Substitution - Missense 6:38592789-38592789 - HCC078T COSM5806111 c.1224A>G p.A408A Substitution - coding silent 6:38288298-38288298 - CHC1152T COSM4791246 c.1370C>T p.S457L Substitution - Missense 6:38192586-38192586 - T3610 COSM4666360 c.1546G>A p.D516N Substitution - Missense 6:38175074-38175074 - ESO-H63 COSM1246306 c.638A>G p.K213R Substitution - Missense 6:38580410-38580410 - TCGA-AA-A03J-01 COSM301161 c.1605C>T p.N535N Substitution - coding silent 6:38175015-38175015 - LIM1215 COSM4354926 c.1609C>T p.R537C Substitution - Missense 6:38175011-38175011 - CSCC-44-T COSM4497928 c.304C>T p.Q102* Substitution - Nonsense 6:38594005-38594005 - TCGA-G2-A3VY-01 COSM3777629 c.311T>C p.V104A Substitution - Missense 6:38593998-38593998 - CLL058 COSM1292313 c.1194A>G p.L398L Substitution - coding silent 6:38288328-38288328 - TCGA-AX-A0J0-01 COSM1078729 c.958C>T p.R320* Substitution - Nonsense 6:38345086-38345086 - CHC1712T COSM4791977 c.430C>T p.H144Y Substitution - Missense 6:38592756-38592756 - pfg129T COSM4753155 c.98C>T p.T33M Substitution - Missense 6:38594211-38594211 - pfg122T COSM379382 c.1394C>T p.A465V Substitution - Missense 6:38192562-38192562 - TCGA-AA-3966-01 COSM272397 c.1097C>T p.A366V Substitution - Missense 6:38288425-38288425 - PT42 COSM5925246 c.1060G>A p.V354I Substitution - Missense 6:38344984-38344984 - TCGA-BR-8687-01 COSM3873653 c.133T>C p.F45L Substitution - Missense 6:38594176-38594176 - H COSM5414915 c.317C>A p.S106* Substitution - Nonsense 6:38593992-38593992 - YUKAT COSM5405168 c.44C>T p.T15I Substitution - Missense 6:38594265-38594265 - LUAD-D02085 COSM363410 c.1317A>T p.Q439H Substitution - Missense 6:38256450-38256450 - PT49 COSM5935083 c.346-8C>T p.? Unknown 6:38592848-38592848 - TCGA-BP-4761-01 COSM3366484 c.1270G>T p.D424Y Substitution - Missense 6:38256497-38256497 - TCGA-19-5955-01 COSM3411046 c.1230G>A p.P410P Substitution - coding silent 6:38288292-38288292 - TCGA-AA-A010-01 COSM279217 c.1028A>G p.N343S Substitution - Missense 6:38345016-38345016 - MedB-1 COSM5620366 c.4C>T p.R2* Substitution - Nonsense 6:38594305-38594305 - TCGA-29-1701-01 COSM1329713 c.91C>T p.R31W Substitution - Missense 6:38594218-38594218 - 10-276 COSM3736860 c.691G>A p.D231N Substitution - Missense 6:38580357-38580357 - 587376 COSM1078743 c.397G>T p.D133Y Substitution - Missense 6:38592789-38592789 - TCGA-FP-A4BE-01 COSM3873630 c.1420C>T p.H474Y Substitution - Missense 6:38192536-38192536 - AA COSM5414915 c.317C>A p.S106* Substitution - Nonsense 6:38593992-38593992 - TCGA-EE-A2MP-06 COSM3626458 c.406C>T p.L136L Substitution - coding silent 6:38592780-38592780 - CRC-02T COSM5455495 c.394A>G p.K132E Substitution - Missense 6:38592792-38592792 - ASHPC_0030_Pa_P COSM4962705 c.655G>T p.V219L Substitution - Missense 6:38580393-38580393 - TCGA-C5-A1ML-01 COSM4837556 c.369A>G p.L123L Substitution - coding silent 6:38592817-38592817 - HCT15 COSM1672359 c.230C>A p.T77N Substitution - Missense 6:38594079-38594079 - TCGA-CZ-5452-01 COSM484013 c.1397C>A p.S466Y Substitution - Missense 6:38192559-38192559 - TCGA-AA-3815-01 COSM1444187 c.803G>A p.R268Q Substitution - Missense 6:38580245-38580245 - TCGA-B7-5816-01 COSM3873657 c.36C>A p.L12L Substitution - coding silent 6:38594273-38594273 - TCGA-G3-A25W-01 COSM4927400 c.1116C>T p.V372V Substitution - coding silent 6:38288406-38288406 - TCGA-ER-A19E-06 COSM3076810 c.763G>A p.E255K Substitution - Missense 6:38580285-38580285 - 49M COSM5589852 c.459C>T p.I153I Substitution - coding silent 6:38592727-38592727 - TCGA-DA-A1I0-06 COSM3626450 c.939C>T p.A313A Substitution - coding silent 6:38577611-38577611 - T3021 COSM4666362 c.1534G>A p.G512S Substitution - Missense 6:38175086-38175086 - 452 COSM4435890 c.1557G>A p.A519A Substitution - coding silent 6:38175063-38175063 - 1517_CLM COSM5756853 c.1523C>T p.T508I Substitution - Missense 6:38175097-38175097 - PD6722a COSM5778788 c.7G>C p.E3Q Substitution - Missense 6:38594302-38594302 - TCGA-Q1-A73O-01 COSM4835490 c.778C>G p.Q260E Substitution - Missense 6:38580270-38580270 - 1517_PT COSM5756853 c.1523C>T p.T508I Substitution - Missense 6:38175097-38175097 - CHC1152T COSM4791246 c.1370C>T p.S457L Substitution - Missense 6:38192586-38192586 - TCGA-CH-5767-01 COSM1131874 c.820C>T p.R274* Substitution - Nonsense 6:38580228-38580228 - ESCC_117 COSM5640085 c.94G>A p.A32T Substitution - Missense 6:38594215-38594215 - BD114T COSM3873649 c.518C>T p.P173L Substitution - Missense 6:38592668-38592668 - TCGA-B0-5096-01 COSM484016 c.831-2A>T p.? Unknown 6:38577721-38577721 - TCGA-EB-A24D-01 COSM3626443 c.979A>G p.T327A Substitution - Missense 6:38345065-38345065 - TCGA-06-0214-01 COSM3411044 c.1355G>T p.C452F Substitution - Missense 6:38256412-38256412 - S02275 COSM5682890 c.1289A>G p.Y430C Substitution - Missense 6:38256478-38256478 - HCT-15 COSM1672359 c.230C>A p.T77N Substitution - Missense 6:38594079-38594079 - S02293 COSM5688580 c.313C>T p.L105F Substitution - Missense 6:38593996-38593996 - LUAD-RT-S01702 COSM379382 c.1394C>T p.A465V Substitution - Missense 6:38192562-38192562 - PD24206a COSM5801007 c.839delC p.S280fs*16 Deletion - Frameshift 6:38577711-38577711 - CCK81 COSM3076808 c.818A>G p.D273G Substitution - Missense 6:38580230-38580230 - CSCC-56-T COSM4568702 c.1076T>C p.V359A Substitution - Missense 6:38288446-38288446 - TCGA-D9-A6EC-06 COSM4402822 c.270T>G p.T90T Substitution - coding silent 6:38594039-38594039 - 25T COSM3715498 c.646G>T p.A216S Substitution - Missense 6:38580402-38580402 - TCGA-A5-A0VO-01 COSM1078726 c.1147G>A p.D383N Substitution - Missense 6:38288375-38288375 - 390 COSM4427854 c.1220T>G p.L407W Substitution - Missense 6:38288302-38288302 - 24 COSM4778097 c.919C>A p.Q307K Substitution - Missense 6:38577631-38577631 - 8057600 COSM4946635 c.390C>T p.P130P Substitution - coding silent 6:38592796-38592796 - BD223T COSM5496513 c.400A>G p.I134V Substitution - Missense 6:38592786-38592786 - TCGA-AX-A0J1-01 COSM1078723 c.1167G>T p.W389C Substitution - Missense 6:38288355-38288355 - 40M COSM5584582 c.411C>T p.A137A Substitution - coding silent 6:38592775-38592775 - EGC15 COSM5061757 c.432C>T p.H144H Substitution - coding silent 6:38592754-38592754 - CSCC-20-T COSM4530638 c.1510G>A p.G504R Substitution - Missense 6:38175110-38175110 - TCGA-D1-A16Y-01 COSM1078740 c.619G>T p.E207* Substitution - Nonsense 6:38580429-38580429 - ESCC_162 COSM5647922 c.390C>G p.P130P Substitution - coding silent 6:38592796-38592796 - TCGA-EE-A2MR-06 COSM3626460 c.148C>T p.H50Y Substitution - Missense 6:38594161-38594161 - TCGA-EE-A2MD-06 COSM3626441 c.1112G>A p.G371E Substitution - Missense 6:38288410-38288410 - TCGA-JW-A5VJ-01 COSM451386 c.755C>T p.S252F Substitution - Missense 6:38580293-38580293 - Pat_41_B COSM3076748 c.1621C>T p.R541W Substitution - Missense 6:38174999-38174999 - TCGA-F1-6177-01 COSM3873655 c.49G>A p.A17T Substitution - Missense 6:38594260-38594260 - TCGA-34-5928-01 COSM742133 c.502C>G p.L168V Substitution - Missense 6:38592684-38592684 - 587220 COSM1185042 c.565C>T p.R189* Substitution - Nonsense 6:38592621-38592621 - UPCI:SCC090 COSM3076824 c.383C>T p.A128V Substitution - Missense 6:38592803-38592803 - TCGA-AP-A059-01 COSM1078720 c.1446C>T p.H482H Substitution - coding silent 6:38175174-38175174 - ESO-105 COSM1246304 c.206T>G p.L69R Substitution - Missense 6:38594103-38594103 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.603843;Hs.603844;Hs.603847;Hs.603849;Hs.603850;Hs.603851;Hs.603852;Hs.603853;Hs.603854;Hs.603855;Hs.603856;Hs.603857;Hs.603858 6p21 611237

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L137R c.410T>G 6 38561879 ESCA AG - IntronicDeletion . c.1641+7479_1641+7480delTC 6 38152816 CLL A G Synonymous p.H25H c.75T>C 6 38565796 COREAD A G Synonymous p.L206L c.616T>C 6 38560550 CM A T IntronicSNV . c.1155-58426T>A 6 38371295 CLL C A Missense p.A431S c.1291G>T 6 38256211 HNSC C A Missense p.C520F c.1559G>T 6 38224188 GBM C A Missense p.D492Y c.1474G>T 6 38224273 RCCC C A Nonsense p.E275* c.823G>T 6 38548205 UCEC C G Missense p.S344T c.1031G>C 6 38547997 CM C - IntronicDeletion . c.814+4947delG 6 38555405 ESCA C T IntronicSNV . c.1264+12817G>A 6 38299943 CLL C T IntronicSNV . c.1264+24015G>A 6 38288745 CLL C T IntronicSNV . c.1642-1996G>A 6 38144954 MB C T Missense p.A85T c.253G>A 6 38562036 STAD C T Missense p.D451N c.1351G>A 6 38256151 UCEC C T Missense p.E323K c.967G>A 6 38548061 CM C T Missense p.G439E c.1316G>A 6 38256186 CM C T Missense p.S4N c.11G>A 6 38565860 CM C T Synonymous p.E547E c.1641G>A 6 38160295 CM C T Synonymous p.P478P c.1434G>A 6 38256068 GBM G A Missense p.P241L c.722C>T 6 38560444 STAD G A Missense p.P247S c.739C>T 6 38560427 CM G A Missense p.P6L c.17C>T 6 38565854 CM G A Missense p.S320F c.959C>T 6 38548069 BRCA G A Missense p.S571L c.1712C>T 6 38142888 CM G A Nonsense p.R342* c.1024C>T 6 38548004 PRAD G A Nonsense p.R62* c.184C>T 6 38565687 CM G A Synonymous p.A381A c.1143C>T 6 38545387 CM G A Synonymous p.L204L c.610C>T 6 38560556 CM G A Synonymous p.N603N c.1809C>T 6 38142791 COREAD G A Synonymous p.S330S c.990C>T 6 38548038 CM G C 3-UTRSNV . c.1836+142C>G 6 38142622 ESCA G C Missense p.L236V c.706C>G 6 38560460 LUSC GG AA IntronicBlockSubstitution . c.814+4063_814+4064delinsTT 6 38556288 CM GG TT Missense p.P155Q c.464_465delinsAA 6 38561824 CM G T Missense p.N608K c.1824C>A 6 38142776 BRCA G T Missense p.Q612K c.1834C>A 6 38142766 SCLC G T Missense p.S534Y c.1601C>A 6 38160335 RCCC G T Synonymous p.L80L c.240C>A 6 38562049 STAD G T Synonymous p.V440V c.1320C>A 6 38256182 GBM T A SpliceAcceptorSNV . c.1035-2A>T 6 38545497 PRAD T C IntronicSNV . c.1155-29213A>G 6 38342082 CLL T C IntronicSNV . c.814+5241A>G 6 38555111 CM T C Missense p.K281R c.842A>G 6 38548186 ESCA T C Missense p.T395A c.1183A>G 6 38312841 CM T C Synonymous p.L466L c.1398A>G 6 38256104 CLL T C Synonymous p.Q301Q c.903A>G 6 38548125 LUAD