Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 4 186536002 186536002 + Missense_Mutation SNP C C G TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr4:186536002C>G c.2866G>C c.(2866-2868)Gag>Cag p.E956Q BLCA 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S BLCA 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S BLCA 4 186544572 186544572 + Nonsense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:186544572G>A c.1999C>T c.(1999-2001)Cga>Tga p.R667* BLCA 4 186544663 186544663 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr4:186544663G>A c.1908C>T c.(1906-1908)taC>taT p.Y636Y BLCA 4 186544731 186544731 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr4:186544731C>G c.1840G>C c.(1840-1842)Gag>Cag p.E614Q BLCA 4 186544867 186544867 + Silent SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 g.chr4:186544867C>A c.1704G>T c.(1702-1704)cgG>cgT p.R568R BLCA 4 186545261 186545261 + Missense_Mutation SNP C C T TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr4:186545261C>T c.1310G>A c.(1309-1311)aGg>aAg p.R437K BLCA 4 186545479 186545479 + Silent SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr4:186545479G>A c.1092C>T c.(1090-1092)aaC>aaT p.N364N BLCA 4 186545479 186545479 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 g.chr4:186545479G>A c.1092C>T c.(1090-1092)aaC>aaT p.N364N BLCA 4 186548048 186548048 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr4:186548048G>A c.860C>T c.(859-861)tCa>tTa p.S287L BLCA 4 186570784 186570784 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr4:186570784G>A c.406C>T c.(406-408)Cag>Tag p.Q136* BLCA 4 186583280 186583280 + Silent SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr4:186583280G>C c.72C>G c.(70-72)gtC>gtG p.V24V BRCA 4 186510869 186510869 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr4:186510869C>T c.3205G>A c.(3205-3207)Gat>Aat p.D1069N BRCA 4 186544158 186544158 + Missense_Mutation SNP A A T TCGA-A2-A0SV-01A-11D-A099-09 TCGA-A2-A0SV-10A-01W-A097-09 g.chr4:186544158A>T c.2413T>A c.(2413-2415)Tgc>Agc p.C805S BRCA 4 186544246 186544246 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr4:186544246C>G c.2325G>C c.(2323-2325)ctG>ctC p.L775L BRCA 4 186544315 186544315 + Silent SNP C C T TCGA-B6-A40C-01A-11D-A23C-09 TCGA-B6-A40C-10A-01D-A23C-09 g.chr4:186544315C>T c.2256G>A c.(2254-2256)ccG>ccA p.P752P BRCA 4 186544436 186544436 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:186544436G>A c.2135C>T c.(2134-2136)tCg>tTg p.S712L BRCA 4 186544746 186544747 + Frame_Shift_Ins INS - - T TCGA-A8-A09E-01A-11W-A019-09 TCGA-A8-A09E-10A-01W-A021-09 g.chr4:186544746_186544747insT c.1824_1825insA c.(1822-1827)agtgacfs p.D609fs BRCA 4 186544917 186544917 + Missense_Mutation SNP C C G TCGA-A8-A081-01A-11W-A019-09 TCGA-A8-A081-10A-01W-A021-09 g.chr4:186544917C>G c.1654G>C c.(1654-1656)Gag>Cag p.E552Q BRCA 4 186545132 186545132 + Missense_Mutation SNP T T C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 g.chr4:186545132T>C c.1439A>G c.(1438-1440)tAc>tGc p.Y480C BRCA 4 186545551 186545551 + Silent SNP C C T TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 g.chr4:186545551C>T c.1020G>A c.(1018-1020)caG>caA p.Q340Q BRCA 4 186578664 186578664 + Missense_Mutation SNP C C G TCGA-A8-A08L-01A-11W-A019-09 TCGA-A8-A08L-10A-01W-A021-09 g.chr4:186578664C>G c.181G>C c.(181-183)Gag>Cag p.E61Q CESC 4 186578742 186578742 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr4:186578742C>T c.103G>A c.(103-105)Gac>Aac p.D35N COAD 4 186536017 186536017 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:186536017C>T c.2851G>A c.(2851-2853)Gca>Aca p.A951T COAD 4 186536214 186536214 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:186536214C>T c.2739G>A c.(2737-2739)ccG>ccA p.P913P COAD 4 186544108 186544108 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr4:186544108G>A c.2463C>T c.(2461-2463)aaC>aaT p.N821N COAD 4 186544215 186544215 + Missense_Mutation SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:186544215G>T c.2356C>A c.(2356-2358)Cct>Act p.P786T COAD 4 186544295 186544295 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr4:186544295C>T c.2276G>A c.(2275-2277)cGc>cAc p.R759H COAD 4 186544436 186544436 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:186544436G>A c.2135C>T c.(2134-2136)tCg>tTg p.S712L COAD 4 186544439 186544439 + Frame_Shift_Del DEL T T - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:186544439delT c.2132delA c.(2131-2133)aatfs p.N711fs COAD 4 186544619 186544619 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:186544619C>T c.1952G>A c.(1951-1953)cGc>cAc p.R651H COAD 4 186544835 186544835 + Missense_Mutation SNP A A G TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr4:186544835A>G c.1736T>C c.(1735-1737)aTt>aCt p.I579T COAD 4 186545077 186545077 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr4:186545077C>T c.1494G>A c.(1492-1494)acG>acA p.T498T COAD 4 186545198 186545198 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:186545198C>T c.1373G>A c.(1372-1374)cGc>cAc p.R458H COAD 4 186545255 186545255 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:186545255C>T c.1316G>A c.(1315-1317)aGa>aAa p.R439K COAD 4 186545274 186545274 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:186545274T>C c.1297A>G c.(1297-1299)Aac>Gac p.N433D COAD 4 186548067 186548067 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:186548067G>A c.841C>T c.(841-843)Cga>Tga p.R281* COAD 4 186548140 186548140 + Silent SNP C C A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr4:186548140C>A c.768G>T c.(766-768)cgG>cgT p.R256R COAD 4 186559309 186559309 + Intron SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:186559309C>T COAD 4 186560143 186560143 + Intron SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:186560143C>T COAD 4 186577772 186577773 + Intron INS - - A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:186577772_186577773insA COAD 4 186578601 186578601 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr4:186578601C>T c.244G>A c.(244-246)Gga>Aga p.G82R COAD 4 186583259 186583259 + Splice_Site SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:186583259G>A c.93C>T c.(91-93)ctC>ctT p.L31L COAD 4 186598516 186598516 + Intron SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:186598516C>T COAD 4 186598550 186598550 + Intron SNP T T G TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr4:186598550T>G COAD 4 186598563 186598564 + Intron INS - - T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:186598563_186598564insT COAD 4 186599612 186599612 + 5'UTR SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:186599612G>A COADREAD 4 186536017 186536017 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr4:186536017C>T c.2851G>A c.(2851-2853)Gca>Aca p.A951T COADREAD 4 186536214 186536214 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:186536214C>T c.2739G>A c.(2737-2739)ccG>ccA p.P913P COADREAD 4 186544108 186544108 + Silent SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr4:186544108G>A c.2463C>T c.(2461-2463)aaC>aaT p.N821N COADREAD 4 186544215 186544215 + Missense_Mutation SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:186544215G>T c.2356C>A c.(2356-2358)Cct>Act p.P786T COADREAD 4 186544295 186544295 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr4:186544295C>T c.2276G>A c.(2275-2277)cGc>cAc p.R759H COADREAD 4 186544436 186544436 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:186544436G>A c.2135C>T c.(2134-2136)tCg>tTg p.S712L COADREAD 4 186544439 186544439 + Frame_Shift_Del DEL T T - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:186544439delT c.2132delA c.(2131-2133)aatfs p.N711fs COADREAD 4 186544619 186544619 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:186544619C>T c.1952G>A c.(1951-1953)cGc>cAc p.R651H COADREAD 4 186544776 186544776 + Missense_Mutation SNP C C T TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr4:186544776C>T c.1795G>A c.(1795-1797)Gac>Aac p.D599N COADREAD 4 186544835 186544835 + Missense_Mutation SNP A A G TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr4:186544835A>G c.1736T>C c.(1735-1737)aTt>aCt p.I579T COADREAD 4 186545077 186545077 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr4:186545077C>T c.1494G>A c.(1492-1494)acG>acA p.T498T COADREAD 4 186545170 186545170 + Silent SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr4:186545170G>A c.1401C>T c.(1399-1401)tcC>tcT p.S467S COADREAD 4 186545198 186545198 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:186545198C>T c.1373G>A c.(1372-1374)cGc>cAc p.R458H COADREAD 4 186545255 186545255 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr4:186545255C>T c.1316G>A c.(1315-1317)aGa>aAa p.R439K COADREAD 4 186545274 186545274 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:186545274T>C c.1297A>G c.(1297-1299)Aac>Gac p.N433D COADREAD 4 186548027 186548027 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:186548027G>T c.881C>A c.(880-882)tCt>tAt p.S294Y COADREAD 4 186548067 186548067 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:186548067G>A c.841C>T c.(841-843)Cga>Tga p.R281* COADREAD 4 186548140 186548140 + Silent SNP C C A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr4:186548140C>A c.768G>T c.(766-768)cgG>cgT p.R256R COADREAD 4 186559309 186559309 + Intron SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:186559309C>T COADREAD 4 186560143 186560143 + Intron SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr4:186560143C>T COADREAD 4 186567890 186567890 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:186567890G>A c.616C>T c.(616-618)Cgg>Tgg p.R206W COADREAD 4 186577772 186577773 + Intron INS - - A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:186577772_186577773insA COADREAD 4 186578601 186578601 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr4:186578601C>T c.244G>A c.(244-246)Gga>Aga p.G82R COADREAD 4 186583259 186583259 + Splice_Site SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:186583259G>A c.93C>T c.(91-93)ctC>ctT p.L31L COADREAD 4 186598368 186598368 + Intron SNP G G A TCGA-DT-5265-01A-21D-1826-10 TCGA-DT-5265-10A-01D-1826-10 g.chr4:186598368G>A COADREAD 4 186598516 186598516 + Intron SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:186598516C>T COADREAD 4 186598550 186598550 + Intron SNP T T G TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr4:186598550T>G COADREAD 4 186598556 186598556 + Intron SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr4:186598556A>G COADREAD 4 186598563 186598564 + Intron INS - - T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:186598563_186598564insT COADREAD 4 186599612 186599612 + 5'UTR SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:186599612G>A DLBC 4 186536235 186536235 + Silent SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr4:186536235G>A c.2718C>T c.(2716-2718)caC>caT p.H906H DLBC 4 186545346 186545346 + Missense_Mutation SNP A A T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr4:186545346A>T c.1225T>A c.(1225-1227)Tta>Ata p.L409I DLBC 4 186573817 186573817 + Splice_Site SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr4:186573817C>T c.333G>A c.(331-333)ccG>ccA p.P111P ESCA 4 186532968 186532968 + Missense_Mutation SNP G G A TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 g.chr4:186532968G>A c.3050C>T c.(3049-3051)tCt>tTt p.S1017F ESCA 4 186541266 186541266 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr4:186541266T>C c.2543A>G c.(2542-2544)gAc>gGc p.D848G ESCA 4 186544439 186544439 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr4:186544439delT c.2132delA c.(2131-2133)aatfs p.N711fs ESCA 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del ESCA 4 186545131 186545131 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr4:186545131G>A c.1440C>T c.(1438-1440)taC>taT p.Y480Y ESCA 4 186583259 186583259 + Splice_Site SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr4:186583259G>A c.93C>T c.(91-93)ctC>ctT p.L31L ESCA 4 186583327 186583327 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr4:186583327A>G c.25T>C c.(25-27)Tcc>Ccc p.S9P ESCA 4 186598368 186598368 + Intron SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr4:186598368G>T ESCA 4 186598448 186598448 + Intron SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr4:186598448G>T GBM 4 186545046 186545046 + Missense_Mutation SNP G G A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 g.chr4:186545046G>A c.1525C>T c.(1525-1527)Cgc>Tgc p.R509C GBM 4 186545050 186545050 + Silent SNP G G A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 g.chr4:186545050G>A c.1521C>T c.(1519-1521)ccC>ccT p.P507P GBMLGG 4 186536048 186536048 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186536048G>A c.2820C>T c.(2818-2820)atC>atT p.I940I GBMLGG 4 186536109 186536109 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186536109A>T c.2759T>A c.(2758-2760)cTc>cAc p.L920H GBMLGG 4 186544169 186544169 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186544169T>C c.2402A>G c.(2401-2403)tAc>tGc p.Y801C GBMLGG 4 186544816 186544816 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186544816G>A c.1755C>T c.(1753-1755)agC>agT p.S585S GBMLGG 4 186545046 186545046 + Missense_Mutation SNP G G A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 g.chr4:186545046G>A c.1525C>T c.(1525-1527)Cgc>Tgc p.R509C GBMLGG 4 186545050 186545050 + Silent SNP G G A TCGA-06-0126-01A-01D-1490-08 TCGA-06-0126-10A-01D-1490-08 g.chr4:186545050G>A c.1521C>T c.(1519-1521)ccC>ccT p.P507P GBMLGG 4 186559269 186559269 + Intron DEL C C - TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 g.chr4:186559269delC GBMLGG 4 186573858 186573858 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186573858A>G c.292T>C c.(292-294)Tac>Cac p.Y98H HNSC 4 186533086 186533086 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr4:186533086C>T c.2932G>A c.(2932-2934)Ggt>Agt p.G978S HNSC 4 186536271 186536271 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr4:186536271C>T c.2682G>A c.(2680-2682)agG>agA p.R894R HNSC 4 186544294 186544294 + Silent SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr4:186544294G>T c.2277C>A c.(2275-2277)cgC>cgA p.R759R HNSC 4 186544587 186544587 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr4:186544587G>T c.1984C>A c.(1984-1986)Ccg>Acg p.P662T HNSC 4 186544853 186544853 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 g.chr4:186544853G>C c.1718C>G c.(1717-1719)tCt>tGt p.S573C HNSC 4 186545017 186545017 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr4:186545017C>G c.1554G>C c.(1552-1554)caG>caC p.Q518H HNSC 4 186545169 186545169 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 g.chr4:186545169C>T c.1402G>A c.(1402-1404)Gag>Aag p.E468K HNSC 4 186545293 186545293 + Silent SNP G G A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr4:186545293G>A c.1278C>T c.(1276-1278)taC>taT p.Y426Y HNSC 4 186545417 186545417 + Missense_Mutation SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr4:186545417T>C c.1154A>G c.(1153-1155)gAc>gGc p.D385G HNSC 4 186545444 186545444 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr4:186545444G>A c.1127C>T c.(1126-1128)tCt>tTt p.S376F HNSC 4 186545478 186545478 + Missense_Mutation SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 g.chr4:186545478C>A c.1093G>T c.(1093-1095)Gca>Tca p.A365S HNSC 4 186545479 186545479 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:186545479G>A c.1092C>T c.(1090-1092)aaC>aaT p.N364N HNSC 4 186545502 186545502 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 g.chr4:186545502C>T c.1069G>A c.(1069-1071)Ggc>Agc p.G357S HNSC 4 186556511 186556511 + Intron SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr4:186556511C>T HNSC 4 186567862 186567862 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr4:186567862T>C c.644A>G c.(643-645)tAt>tGt p.Y215C HNSC 4 186567895 186567895 + Missense_Mutation SNP T T A TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr4:186567895T>A c.611A>T c.(610-612)aAa>aTa p.K204I KICH 4 186560084 186560084 + Intron SNP G G A TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr4:186560084G>A KIPAN 4 186508841 186508841 + Splice_Site SNP C C T TCGA-CJ-4638-01A-02D-1386-10 TCGA-CJ-4638-11A-01D-1251-10 g.chr4:186508841C>T c.3243G>A c.(3241-3243)ggG>ggA p.G1081G KIPAN 4 186545056 186545067 + In_Frame_Del DEL CATGTCCCGGGG CATGTCCCGGGG - TCGA-B2-4098-01A-01D-1458-08 TCGA-B2-4098-10A-01D-1458-08 g.chr4:186545056_186545067delCATGTCCCGGGG c.1504_1515delCCCCGGGACATG c.(1504-1515)ccccgggacatgdel p.PRDM502del KIPAN 4 186545113 186545114 + Missense_Mutation DNP GT GT AG TCGA-BQ-5890-01A-11D-1589-08 TCGA-BQ-5890-11A-01D-1589-08 g.chr4:186545113_186545114GT>AG c.1457_1458AC>CT c.(1456-1458)cAC>cCT p.H486P KIPAN 4 186545257 186545257 + Missense_Mutation SNP G G C TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr4:186545257G>C c.1314C>G c.(1312-1314)atC>atG p.I438M KIPAN 4 186545386 186545386 + Missense_Mutation SNP G G T TCGA-A4-8515-01A-11D-2396-08 TCGA-A4-8515-10A-01D-2396-08 g.chr4:186545386G>T c.1185C>A c.(1183-1185)ttC>ttA p.F395L KIPAN 4 186548090 186548090 + Missense_Mutation SNP C C T TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr4:186548090C>T c.818G>A c.(817-819)aGt>aAt p.S273N KIPAN 4 186560084 186560084 + Intron SNP G G A TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr4:186560084G>A KIRC 4 186508841 186508841 + Splice_Site SNP C C T TCGA-CJ-4638-01A-02D-1386-10 TCGA-CJ-4638-11A-01D-1251-10 g.chr4:186508841C>T c.3243G>A c.(3241-3243)ggG>ggA p.G1081G KIRC 4 186545056 186545067 + In_Frame_Del DEL CATGTCCCGGGG CATGTCCCGGGG - TCGA-B2-4098-01A-01D-1458-08 TCGA-B2-4098-10A-01D-1458-08 g.chr4:186545056_186545067delCATGTCCCGGGG c.1504_1515delCCCCGGGACATG c.(1504-1515)ccccgggacatgdel p.PRDM502del KIRC 4 186545257 186545257 + Missense_Mutation SNP G G C TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr4:186545257G>C c.1314C>G c.(1312-1314)atC>atG p.I438M KIRC 4 186548090 186548090 + Missense_Mutation SNP C C T TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr4:186548090C>T c.818G>A c.(817-819)aGt>aAt p.S273N KIRP 4 186545113 186545114 + Missense_Mutation DNP GT GT AG TCGA-BQ-5890-01A-11D-1589-08 TCGA-BQ-5890-11A-01D-1589-08 g.chr4:186545113_186545114GT>AG c.1457_1458AC>CT c.(1456-1458)cAC>cCT p.H486P KIRP 4 186545386 186545386 + Missense_Mutation SNP G G T TCGA-A4-8515-01A-11D-2396-08 TCGA-A4-8515-10A-01D-2396-08 g.chr4:186545386G>T c.1185C>A c.(1183-1185)ttC>ttA p.F395L LAML 4 186544675 186544675 + Silent SNP G G A TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 g.chr4:186544675G>A c.1896C>T c.(1894-1896)tcC>tcT p.S632S LGG 4 186536048 186536048 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186536048G>A c.2820C>T c.(2818-2820)atC>atT p.I940I LGG 4 186536109 186536109 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186536109A>T c.2759T>A c.(2758-2760)cTc>cAc p.L920H LGG 4 186544169 186544169 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186544169T>C c.2402A>G c.(2401-2403)tAc>tGc p.Y801C LGG 4 186544816 186544816 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186544816G>A c.1755C>T c.(1753-1755)agC>agT p.S585S LGG 4 186559269 186559269 + Intron DEL C C - TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 g.chr4:186559269delC LGG 4 186573858 186573858 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:186573858A>G c.292T>C c.(292-294)Tac>Cac p.Y98H LIHC 4 186533094 186533094 + Nonsense_Mutation SNP C C T TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chr4:186533094C>T c.2924G>A c.(2923-2925)tGg>tAg p.W975* LIHC 4 186544299 186544299 + Missense_Mutation SNP G G T TCGA-HP-A5N0-01A-11D-A28X-10 TCGA-HP-A5N0-10A-01D-A28X-10 g.chr4:186544299G>T c.2272C>A c.(2272-2274)Cac>Aac p.H758N LIHC 4 186544464 186544464 + Missense_Mutation SNP G G T TCGA-5C-A9VH-01A-11D-A36X-10 TCGA-5C-A9VH-10A-01D-A370-10 g.chr4:186544464G>T c.2107C>A c.(2107-2109)Cct>Act p.P703T LIHC 4 186544675 186544675 + Silent SNP G G A TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr4:186544675G>A c.1896C>T c.(1894-1896)tcC>tcT p.S632S LIHC 4 186544895 186544895 + Missense_Mutation SNP T T C TCGA-DD-AADG-01A-11D-A40R-10 TCGA-DD-AADG-10A-01D-A40U-10 g.chr4:186544895T>C c.1676A>G c.(1675-1677)aAt>aGt p.N559S LIHC 4 186567931 186567931 + Missense_Mutation SNP T T C TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr4:186567931T>C c.575A>G c.(574-576)gAc>gGc p.D192G LIHC 4 186570678 186570678 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr4:186570678delG c.512delC c.(511-513)ccafs p.P171fs LIHC 4 186583322 186583322 + Frame_Shift_Del DEL G G - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr4:186583322delG c.30delC c.(28-30)cccfs p.P10fs LIHC 4 186598269 186598273 + Intron DEL TCCTG TCCTG - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr4:186598269_186598273delTCCTG LIHC 4 186598318 186598318 + Intron SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr4:186598318T>C LUAD 4 186515056 186515056 + Nonsense_Mutation SNP G G A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr4:186515056G>A c.3118C>T c.(3118-3120)Caa>Taa p.Q1040* LUAD 4 186515086 186515086 + Nonsense_Mutation SNP G G A TCGA-MP-A4TD-01A-32D-A25L-08 TCGA-MP-A4TD-10A-01D-A25L-08 g.chr4:186515086G>A c.3088C>T c.(3088-3090)Cag>Tag p.Q1030* LUAD 4 186536069 186536069 + Silent SNP C C T TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr4:186536069C>T c.2799G>A c.(2797-2799)ccG>ccA p.P933P LUAD 4 186539747 186539747 + Silent SNP C C T TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 g.chr4:186539747C>T c.2631G>A c.(2629-2631)caG>caA p.Q877Q LUAD 4 186541230 186541230 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr4:186541230G>A c.2579C>T c.(2578-2580)aCt>aTt p.T860I LUAD 4 186544260 186544260 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr4:186544260T>A c.2311A>T c.(2311-2313)Agg>Tgg p.R771W LUAD 4 186544274 186544274 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr4:186544274G>A c.2297C>T c.(2296-2298)cCa>cTa p.P766L LUAD 4 186544288 186544288 + Silent SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr4:186544288G>A c.2283C>T c.(2281-2283)atC>atT p.I761I LUAD 4 186544296 186544296 + Missense_Mutation SNP G G A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr4:186544296G>A c.2275C>T c.(2275-2277)Cgc>Tgc p.R759C LUAD 4 186544784 186544784 + Missense_Mutation SNP G G C TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr4:186544784G>C c.1787C>G c.(1786-1788)tCc>tGc p.S596C LUAD 4 186544881 186544881 + Missense_Mutation SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr4:186544881G>A c.1690C>T c.(1690-1692)Ccc>Tcc p.P564S LUAD 4 186545479 186545479 + Silent SNP G G A TCGA-44-A47F-01A-11D-A24D-08 TCGA-44-A47F-10A-01D-A24F-08 g.chr4:186545479G>A c.1092C>T c.(1090-1092)aaC>aaT p.N364N LUAD 4 186551728 186551728 + Missense_Mutation SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr4:186551728C>T c.709G>A c.(709-711)Gac>Aac p.D237N LUAD 4 186570747 186570747 + Missense_Mutation SNP G G A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr4:186570747G>A c.443C>T c.(442-444)cCt>cTt p.P148L LUAD 4 186578624 186578624 + Missense_Mutation SNP C C A TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr4:186578624C>A c.221G>T c.(220-222)gGg>gTg p.G74V LUSC 4 186510909 186510909 + Silent SNP C C T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr4:186510909C>T c.3165G>A c.(3163-3165)agG>agA p.R1055R LUSC 4 186533109 186533109 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr4:186533109C>T c.2909G>A c.(2908-2910)aGa>aAa p.R970K LUSC 4 186536046 186536046 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:186536046C>T c.2822G>A c.(2821-2823)gGa>gAa p.G941E LUSC 4 186544316 186544316 + Missense_Mutation SNP G G T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr4:186544316G>T c.2255C>A c.(2254-2256)cCg>cAg p.P752Q LUSC 4 186544783 186544783 + Silent SNP G G A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 g.chr4:186544783G>A c.1788C>T c.(1786-1788)tcC>tcT p.S596S LUSC 4 186545038 186545038 + Silent SNP G G A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr4:186545038G>A c.1533C>T c.(1531-1533)tcC>tcT p.S511S LUSC 4 186545420 186545420 + Missense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr4:186545420C>A c.1151G>T c.(1150-1152)tGt>tTt p.C384F LUSC 4 186578704 186578704 + Silent SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr4:186578704G>T c.141C>A c.(139-141)acC>acA p.T47T OV 4 186536052 186536052 + Missense_Mutation SNP T T C TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 g.chr4:186536052T>C c.2816A>G c.(2815-2817)gAa>gGa p.E939G OV 4 186544080 186544080 + Missense_Mutation SNP C C T TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 g.chr4:186544080C>T c.2491G>A c.(2491-2493)Ggt>Agt p.G831S OV 4 186544515 186544515 + Nonsense_Mutation SNP T T A TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr4:186544515T>A c.2056A>T c.(2056-2058)Aga>Tga p.R686* OV 4 186573818 186573818 + Missense_Mutation SNP G G A TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 g.chr4:186573818G>A c.332C>T c.(331-333)cCg>cTg p.P111L PAAD 4 186515044 186515044 + Frame_Shift_Del DEL C C - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 g.chr4:186515044delC c.3130delG c.(3130-3132)gaafs p.E1044fs PAAD 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S PAAD 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S PAAD 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S PAAD 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S PAAD 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S PAAD 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr4:186544317G>A c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S PAAD 4 186544436 186544436 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 g.chr4:186544436G>T c.2135C>A c.(2134-2136)tCg>tAg p.S712* PAAD 4 186544438 186544439 + Frame_Shift_Ins INS - - T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 g.chr4:186544438_186544439insT c.2132_2133insA c.(2131-2133)aatfs p.N711fs PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-11A-11D-A36O-08 g.chr4:186544620_186544622delGGT c.1949_1951delACC c.(1948-1953)caccgc>cgc p.H650del PAAD 4 186544636 186544636 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr4:186544636G>A c.1935C>T c.(1933-1935)caC>caT p.H645H PAAD 4 186544639 186544639 + Silent SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr4:186544639A>G c.1932T>C c.(1930-1932)caT>caC p.H644H PAAD 4 186544639 186544639 + Silent SNP A A G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr4:186544639A>G c.1932T>C c.(1930-1932)caT>caC p.H644H PAAD 4 186545525 186545525 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:186545525G>A c.1046C>T c.(1045-1047)cCa>cTa p.P349L PCPG 4 186544307 186544307 + Missense_Mutation SNP C C T TCGA-QR-A70J-01A-11D-A35D-08 TCGA-QR-A70J-10A-01D-A35B-08 g.chr4:186544307C>T c.2264G>A c.(2263-2265)aGc>aAc p.S755N PCPG 4 186544636 186544636 + Silent SNP G G A TCGA-WB-A80N-01A-11D-A35I-08 TCGA-WB-A80N-10A-01D-A35G-08 g.chr4:186544636G>A c.1935C>T c.(1933-1935)caC>caT p.H645H PCPG 4 186544639 186544639 + Silent SNP A A G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 g.chr4:186544639A>G c.1932T>C c.(1930-1932)caT>caC p.H644H PRAD 4 186536198 186536198 + Splice_Site SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:186536198C>T c.e16+1 PRAD 4 186545236 186545236 + Missense_Mutation SNP G G T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 g.chr4:186545236G>T c.1335C>A c.(1333-1335)aaC>aaA p.N445K PRAD 4 186545479 186545479 + Silent SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 g.chr4:186545479G>A c.1092C>T c.(1090-1092)aaC>aaT p.N364N READ 4 186544776 186544776 + Missense_Mutation SNP C C T TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr4:186544776C>T c.1795G>A c.(1795-1797)Gac>Aac p.D599N READ 4 186545170 186545170 + Silent SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr4:186545170G>A c.1401C>T c.(1399-1401)tcC>tcT p.S467S READ 4 186548027 186548027 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:186548027G>T c.881C>A c.(880-882)tCt>tAt p.S294Y READ 4 186567890 186567890 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:186567890G>A c.616C>T c.(616-618)Cgg>Tgg p.R206W READ 4 186598368 186598368 + Intron SNP G G A TCGA-DT-5265-01A-21D-1826-10 TCGA-DT-5265-10A-01D-1826-10 g.chr4:186598368G>A READ 4 186598556 186598556 + Intron SNP A A G TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr4:186598556A>G SARC 4 186544971 186544971 + Missense_Mutation SNP C C T TCGA-QQ-A5VB-01A-11D-A36J-09 TCGA-QQ-A5VB-11B-11D-A36M-09 g.chr4:186544971C>T c.1600G>A c.(1600-1602)Gta>Ata p.V534I SARC 4 186578613 186578613 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr4:186578613C>T c.232G>A c.(232-234)Gtg>Atg p.V78M SKCM 4 186536215 186536215 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr4:186536215G>A c.2738C>T c.(2737-2739)cCg>cTg p.P913L SKCM 4 186541233 186541233 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:186541233C>T c.2576G>A c.(2575-2577)gGa>gAa p.G859E SKCM 4 186544450 186544450 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr4:186544450C>T c.2121G>A c.(2119-2121)cgG>cgA p.R707R SKCM 4 186544533 186544533 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:186544533C>T c.2038G>A c.(2038-2040)Gaa>Aaa p.E680K SKCM 4 186544548 186544548 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:186544548C>T c.2023G>A c.(2023-2025)Gaa>Aaa p.E675K SKCM 4 186544548 186544548 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:186544548C>T c.2023G>A c.(2023-2025)Gaa>Aaa p.E675K SKCM 4 186544571 186544571 + Missense_Mutation SNP C C T TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr4:186544571C>T c.2000G>A c.(1999-2001)cGa>cAa p.R667Q SKCM 4 186544635 186544635 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr4:186544635G>A c.1936C>T c.(1936-1938)Cac>Tac p.H646Y SKCM 4 186544650 186544650 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr4:186544650G>A c.1921C>T c.(1921-1923)Cac>Tac p.H641Y SKCM 4 186544688 186544688 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr4:186544688G>A c.1883C>T c.(1882-1884)tCc>tTc p.S628F SKCM 4 186545032 186545032 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr4:186545032G>A c.1539C>T c.(1537-1539)ttC>ttT p.F513F SKCM 4 186545032 186545032 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr4:186545032G>A c.1539C>T c.(1537-1539)ttC>ttT p.F513F SKCM 4 186545032 186545032 + Silent SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr4:186545032G>A c.1539C>T c.(1537-1539)ttC>ttT p.F513F SKCM 4 186545077 186545077 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr4:186545077C>T c.1494G>A c.(1492-1494)acG>acA p.T498T SKCM 4 186545156 186545156 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:186545156G>A c.1415C>T c.(1414-1416)tCc>tTc p.S472F SKCM 4 186545280 186545280 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:186545280G>A c.1291C>T c.(1291-1293)Cgc>Tgc p.R431C SKCM 4 186545288 186545288 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr4:186545288G>A c.1283C>T c.(1282-1284)cCg>cTg p.P428L SKCM 4 186545335 186545335 + Silent SNP C C T TCGA-FS-A1ZH-06A-11D-A197-08 TCGA-FS-A1ZH-10A-01D-A199-08 g.chr4:186545335C>T c.1236G>A c.(1234-1236)gaG>gaA p.E412E SKCM 4 186545351 186545351 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr4:186545351G>A c.1220C>T c.(1219-1221)tCc>tTc p.S407F SKCM 4 186545428 186545428 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 g.chr4:186545428G>A c.1143C>T c.(1141-1143)tcC>tcT p.S381S SKCM 4 186545434 186545434 + Silent SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr4:186545434G>A c.1137C>T c.(1135-1137)atC>atT p.I379I SKCM 4 186545533 186545533 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:186545533C>T c.1038G>A c.(1036-1038)cgG>cgA p.R346R SKCM 4 186545539 186545539 + Silent SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr4:186545539G>A c.1032C>T c.(1030-1032)gtC>gtT p.V344V SKCM 4 186545620 186545620 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr4:186545620G>A c.951C>T c.(949-951)tcC>tcT p.S317S SKCM 4 186545621 186545621 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr4:186545621G>A c.950C>T c.(949-951)tCc>tTc p.S317F SKCM 4 186548051 186548051 + Missense_Mutation SNP C C T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr4:186548051C>T c.857G>A c.(856-858)gGa>gAa p.G286E SKCM 4 186548105 186548105 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr4:186548105C>T c.803G>A c.(802-804)gGc>gAc p.G268D SKCM 4 186551710 186551710 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr4:186551710G>A c.727C>T c.(727-729)Ccc>Tcc p.P243S SKCM 4 186559240 186559240 + Intron SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:186559240C>T SKCM 4 186567923 186567923 + Missense_Mutation SNP G G A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr4:186567923G>A c.583C>T c.(583-585)Cct>Tct p.P195S SKCM 4 186583354 186583354 + 5'UTR SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr4:186583354G>A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 186510884 186510884 single base substitution C T downstream_gene_variant BLCA-CN 4 186510884 186510884 single base substitution C T exon_variant BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E1064K 3190G>A BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E1164K 3490G>A BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E608K 1822G>A BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E625K 1873G>A BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E630K 1888G>A BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E695K 2083G>A BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E788K 2362G>A BLCA-CN 4 186510884 186510884 single base substitution C T missense_variant E968K 2902G>A BLCA-US 4 186544731 186544731 single base substitution C G downstream_gene_variant BLCA-US 4 186544731 186544731 single base substitution C G intron_variant BLCA-US 4 186544731 186544731 single base substitution C G missense_variant E518Q 1552G>C BLCA-US 4 186544731 186544731 single base substitution C G missense_variant E614Q 1840G>C BLCA-US 4 186544731 186544731 single base substitution C G missense_variant E714Q 2140G>C BLCA-US 4 186544867 186544867 single base substitution C A downstream_gene_variant BLCA-US 4 186544867 186544867 single base substitution C A intron_variant BLCA-US 4 186544867 186544867 single base substitution C A synonymous_variant R472R 1416G>T BLCA-US 4 186544867 186544867 single base substitution C A synonymous_variant R568R 1704G>T BLCA-US 4 186544867 186544867 single base substitution C A synonymous_variant R668R 2004G>T BLCA-US 4 186545479 186545479 single base substitution G A downstream_gene_variant BLCA-US 4 186545479 186545479 single base substitution G A exon_variant BLCA-US 4 186545479 186545479 single base substitution G A intron_variant BLCA-US 4 186545479 186545479 single base substitution G A synonymous_variant N268N 804C>T BLCA-US 4 186545479 186545479 single base substitution G A synonymous_variant N364N 1092C>T BLCA-US 4 186545479 186545479 single base substitution G A synonymous_variant N464N 1392C>T BOCA-FR 4 186511094 186511094 single base substitution T C downstream_gene_variant BOCA-FR 4 186511094 186511094 single base substitution T C intron_variant BOCA-FR 4 186511094 186511094 single base substitution T C upstream_gene_variant BOCA-FR 4 186668863 186668863 single base substitution T C intron_variant BOCA-FR 4 186670286 186670286 single base substitution G C intron_variant BOCA-FR 4 186672810 186672810 single base substitution T C intron_variant BRCA-EU 4 186503077 186503077 deletion of <=200bp C - downstream_gene_variant BRCA-EU 4 186505544 186505544 single base substitution C T downstream_gene_variant BRCA-EU 4 186506684 186506684 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 186506684 186506684 single base substitution C T downstream_gene_variant BRCA-EU 4 186507601 186507601 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 186507601 186507601 single base substitution C G downstream_gene_variant BRCA-EU 4 186508868 186508868 deletion of <=200bp G - intron_variant BRCA-EU 4 186509425 186509425 single base substitution C G intron_variant BRCA-EU 4 186510640 186510640 single base substitution A T downstream_gene_variant BRCA-EU 4 186510640 186510640 single base substitution A T intron_variant BRCA-EU 4 186510804 186510804 single base substitution G A downstream_gene_variant BRCA-EU 4 186510804 186510804 single base substitution G A intron_variant BRCA-EU 4 186511365 186511365 single base substitution C T downstream_gene_variant BRCA-EU 4 186511365 186511365 single base substitution C T intron_variant BRCA-EU 4 186511365 186511365 single base substitution C T upstream_gene_variant BRCA-EU 4 186511508 186511508 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 186511508 186511508 insertion of <=200bp - T intron_variant BRCA-EU 4 186511508 186511508 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 186512636 186512636 single base substitution G A downstream_gene_variant BRCA-EU 4 186512636 186512636 single base substitution G A intron_variant BRCA-EU 4 186512636 186512636 single base substitution G A upstream_gene_variant BRCA-EU 4 186513855 186513855 single base substitution G A downstream_gene_variant BRCA-EU 4 186513855 186513855 single base substitution G A intron_variant BRCA-EU 4 186513855 186513855 single base substitution G A upstream_gene_variant BRCA-EU 4 186514672 186514672 single base substitution C T downstream_gene_variant BRCA-EU 4 186514672 186514672 single base substitution C T intron_variant BRCA-EU 4 186514672 186514672 single base substitution C T upstream_gene_variant BRCA-EU 4 186514826 186514826 single base substitution A C downstream_gene_variant BRCA-EU 4 186514826 186514826 single base substitution A C intron_variant BRCA-EU 4 186514826 186514826 single base substitution A C upstream_gene_variant BRCA-EU 4 186515441 186515441 single base substitution C G intron_variant BRCA-EU 4 186515441 186515441 single base substitution C G upstream_gene_variant BRCA-EU 4 186515725 186515725 single base substitution G A intron_variant BRCA-EU 4 186515725 186515725 single base substitution G A upstream_gene_variant BRCA-EU 4 186518133 186518133 single base substitution G C intron_variant BRCA-EU 4 186518570 186518570 single base substitution C T intron_variant BRCA-EU 4 186519447 186519447 single base substitution C A intron_variant BRCA-EU 4 186520223 186520223 single base substitution C G intron_variant BRCA-EU 4 186520663 186520663 single base substitution C T intron_variant BRCA-EU 4 186520827 186520827 single base substitution T A intron_variant BRCA-EU 4 186522692 186522692 deletion of <=200bp G - intron_variant BRCA-EU 4 186525487 186525487 single base substitution G A downstream_gene_variant BRCA-EU 4 186525487 186525487 single base substitution G A intron_variant BRCA-EU 4 186527171 186527171 single base substitution G A downstream_gene_variant BRCA-EU 4 186527171 186527171 single base substitution G A intron_variant BRCA-EU 4 186528782 186528782 single base substitution A C intron_variant BRCA-EU 4 186528891 186528891 single base substitution C G intron_variant BRCA-EU 4 186530046 186530046 single base substitution C G intron_variant BRCA-EU 4 186530492 186530492 single base substitution C T intron_variant BRCA-EU 4 186531729 186531729 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 186531729 186531729 deletion of <=200bp A - intron_variant BRCA-EU 4 186535775 186535775 single base substitution C T downstream_gene_variant BRCA-EU 4 186535775 186535775 single base substitution C T intron_variant BRCA-EU 4 186535932 186535932 single base substitution C A downstream_gene_variant BRCA-EU 4 186535932 186535932 single base substitution C A exon_variant BRCA-EU 4 186535932 186535932 single base substitution C A intron_variant BRCA-EU 4 186536011 186536011 single base substitution T C downstream_gene_variant BRCA-EU 4 186536011 186536011 single base substitution T C exon_variant BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T1053A 3157A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T497A 1489A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T514A 1540A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T519A 1555A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T544A 1630A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T584A 1750A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T677A 2029A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T857A 2569A>G BRCA-EU 4 186536011 186536011 single base substitution T C missense_variant T953A 2857A>G BRCA-EU 4 186536474 186536474 single base substitution C G downstream_gene_variant BRCA-EU 4 186536474 186536474 single base substitution C G intron_variant BRCA-EU 4 186536474 186536474 single base substitution C G upstream_gene_variant BRCA-EU 4 186537038 186537038 single base substitution T C downstream_gene_variant BRCA-EU 4 186537038 186537038 single base substitution T C intron_variant BRCA-EU 4 186537038 186537038 single base substitution T C upstream_gene_variant BRCA-EU 4 186538690 186538690 single base substitution T C downstream_gene_variant BRCA-EU 4 186538690 186538690 single base substitution T C intron_variant BRCA-EU 4 186538690 186538690 single base substitution T C upstream_gene_variant BRCA-EU 4 186540066 186540066 single base substitution A C intron_variant BRCA-EU 4 186540066 186540066 single base substitution A C upstream_gene_variant BRCA-EU 4 186540539 186540539 single base substitution C G downstream_gene_variant BRCA-EU 4 186540539 186540539 single base substitution C G intron_variant BRCA-EU 4 186540539 186540539 single base substitution C G upstream_gene_variant BRCA-EU 4 186541715 186541715 single base substitution A C downstream_gene_variant BRCA-EU 4 186541715 186541715 single base substitution A C intron_variant BRCA-EU 4 186542410 186542410 single base substitution T C downstream_gene_variant BRCA-EU 4 186542410 186542410 single base substitution T C intron_variant BRCA-EU 4 186542798 186542798 single base substitution G C downstream_gene_variant BRCA-EU 4 186542798 186542798 single base substitution G C intron_variant BRCA-EU 4 186544196 186544196 single base substitution G T downstream_gene_variant BRCA-EU 4 186544196 186544196 single base substitution G T intron_variant BRCA-EU 4 186544196 186544196 single base substitution G T missense_variant P696H 2087C>A BRCA-EU 4 186544196 186544196 single base substitution G T missense_variant P792H 2375C>A BRCA-EU 4 186544196 186544196 single base substitution G T missense_variant P892H 2675C>A BRCA-EU 4 186545479 186545479 single base substitution G A downstream_gene_variant BRCA-EU 4 186545479 186545479 single base substitution G A exon_variant BRCA-EU 4 186545479 186545479 single base substitution G A intron_variant BRCA-EU 4 186545479 186545479 single base substitution G A synonymous_variant N268N 804C>T BRCA-EU 4 186545479 186545479 single base substitution G A synonymous_variant N364N 1092C>T BRCA-EU 4 186545479 186545479 single base substitution G A synonymous_variant N464N 1392C>T BRCA-EU 4 186546226 186546226 single base substitution A T downstream_gene_variant BRCA-EU 4 186546226 186546226 single base substitution A T intron_variant BRCA-EU 4 186546887 186546887 single base substitution C G downstream_gene_variant BRCA-EU 4 186546887 186546887 single base substitution C G intron_variant BRCA-EU 4 186547514 186547514 single base substitution C T downstream_gene_variant BRCA-EU 4 186547514 186547514 single base substitution C T intron_variant BRCA-EU 4 186547624 186547624 single base substitution T A downstream_gene_variant BRCA-EU 4 186547624 186547624 single base substitution T A intron_variant BRCA-EU 4 186547748 186547748 single base substitution C G downstream_gene_variant BRCA-EU 4 186547748 186547748 single base substitution C G intron_variant BRCA-EU 4 186548395 186548395 single base substitution C G downstream_gene_variant BRCA-EU 4 186548395 186548395 single base substitution C G intron_variant BRCA-EU 4 186548395 186548395 single base substitution C G upstream_gene_variant BRCA-EU 4 186551359 186551359 single base substitution A T downstream_gene_variant BRCA-EU 4 186551359 186551359 single base substitution A T intron_variant BRCA-EU 4 186551359 186551359 single base substitution A T upstream_gene_variant BRCA-EU 4 186551360 186551360 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 186551360 186551360 insertion of <=200bp - T intron_variant BRCA-EU 4 186551360 186551360 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 186551542 186551542 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 186551542 186551542 deletion of <=200bp A - intron_variant BRCA-EU 4 186551542 186551542 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 186552294 186552294 single base substitution T C intron_variant BRCA-EU 4 186552294 186552294 single base substitution T C upstream_gene_variant BRCA-EU 4 186552298 186552298 single base substitution A G intron_variant BRCA-EU 4 186552298 186552298 single base substitution A G upstream_gene_variant BRCA-EU 4 186552338 186552338 single base substitution G C intron_variant BRCA-EU 4 186552338 186552338 single base substitution G C upstream_gene_variant BRCA-EU 4 186552607 186552607 single base substitution G A intron_variant BRCA-EU 4 186552607 186552607 single base substitution G A upstream_gene_variant BRCA-EU 4 186552611 186552611 single base substitution G A intron_variant BRCA-EU 4 186552611 186552611 single base substitution G A upstream_gene_variant BRCA-EU 4 186553002 186553002 single base substitution C A intron_variant BRCA-EU 4 186553002 186553002 single base substitution C A upstream_gene_variant BRCA-EU 4 186553862 186553862 single base substitution T G intron_variant BRCA-EU 4 186554240 186554240 single base substitution C A intron_variant BRCA-EU 4 186554713 186554716 deletion of <=200bp ATTA - intron_variant BRCA-EU 4 186555792 186555792 single base substitution C G downstream_gene_variant BRCA-EU 4 186555792 186555792 single base substitution C G intron_variant BRCA-EU 4 186557343 186557343 single base substitution A G downstream_gene_variant BRCA-EU 4 186557343 186557343 single base substitution A G intron_variant BRCA-EU 4 186558044 186558044 single base substitution G A downstream_gene_variant BRCA-EU 4 186558044 186558044 single base substitution G A intron_variant BRCA-EU 4 186562027 186562027 single base substitution T C downstream_gene_variant BRCA-EU 4 186562027 186562027 single base substitution T C intron_variant BRCA-EU 4 186562906 186562906 single base substitution C G downstream_gene_variant BRCA-EU 4 186562906 186562906 single base substitution C G intron_variant BRCA-EU 4 186563112 186563112 single base substitution C T downstream_gene_variant BRCA-EU 4 186563112 186563112 single base substitution C T intron_variant BRCA-EU 4 186563922 186563922 single base substitution G C downstream_gene_variant BRCA-EU 4 186563922 186563922 single base substitution G C intron_variant BRCA-EU 4 186565949 186565949 single base substitution C T downstream_gene_variant BRCA-EU 4 186565949 186565949 single base substitution C T intron_variant BRCA-EU 4 186567310 186567310 single base substitution A G downstream_gene_variant BRCA-EU 4 186567310 186567310 single base substitution A G intron_variant BRCA-EU 4 186569808 186569808 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 186569808 186569808 deletion of <=200bp A - intron_variant BRCA-EU 4 186570678 186570678 single base substitution G A downstream_gene_variant BRCA-EU 4 186570678 186570678 single base substitution G A exon_variant BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P114L 341C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P171L 512C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P217L 650C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P240L 719C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P242L 725C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P257L 770C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P271L 812C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P28L 83C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P350L 1049C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P68L 203C>T BRCA-EU 4 186570678 186570678 single base substitution G A missense_variant P75L 224C>T BRCA-EU 4 186571599 186571599 single base substitution G A downstream_gene_variant BRCA-EU 4 186571599 186571599 single base substitution G A intron_variant BRCA-EU 4 186571599 186571599 single base substitution G A upstream_gene_variant BRCA-EU 4 186572320 186572320 single base substitution G C downstream_gene_variant BRCA-EU 4 186572320 186572320 single base substitution G C intron_variant BRCA-EU 4 186572320 186572320 single base substitution G C upstream_gene_variant BRCA-EU 4 186572468 186572468 single base substitution C G downstream_gene_variant BRCA-EU 4 186572468 186572468 single base substitution C G intron_variant BRCA-EU 4 186572468 186572468 single base substitution C G upstream_gene_variant BRCA-EU 4 186572671 186572671 single base substitution T C downstream_gene_variant BRCA-EU 4 186572671 186572671 single base substitution T C intron_variant BRCA-EU 4 186572671 186572671 single base substitution T C upstream_gene_variant BRCA-EU 4 186572882 186572882 single base substitution C T downstream_gene_variant BRCA-EU 4 186572882 186572882 single base substitution C T intron_variant BRCA-EU 4 186572882 186572882 single base substitution C T upstream_gene_variant BRCA-EU 4 186575187 186575187 single base substitution G T downstream_gene_variant BRCA-EU 4 186575187 186575187 single base substitution G T intron_variant BRCA-EU 4 186575187 186575187 single base substitution G T upstream_gene_variant BRCA-EU 4 186575825 186575825 single base substitution C G downstream_gene_variant BRCA-EU 4 186575825 186575825 single base substitution C G intron_variant BRCA-EU 4 186575825 186575825 single base substitution C G upstream_gene_variant BRCA-EU 4 186576024 186576024 single base substitution T A downstream_gene_variant BRCA-EU 4 186576024 186576024 single base substitution T A intron_variant BRCA-EU 4 186576024 186576024 single base substitution T A upstream_gene_variant BRCA-EU 4 186576025 186576025 single base substitution C G downstream_gene_variant BRCA-EU 4 186576025 186576025 single base substitution C G intron_variant BRCA-EU 4 186576025 186576025 single base substitution C G upstream_gene_variant BRCA-EU 4 186578034 186578034 single base substitution T C 5_prime_UTR_variant BRCA-EU 4 186578034 186578034 single base substitution T C downstream_gene_variant BRCA-EU 4 186578034 186578034 single base substitution T C exon_variant BRCA-EU 4 186578034 186578034 single base substitution T C intron_variant BRCA-EU 4 186578034 186578034 single base substitution T C upstream_gene_variant BRCA-EU 4 186579476 186579476 single base substitution C T downstream_gene_variant BRCA-EU 4 186579476 186579476 single base substitution C T intron_variant BRCA-EU 4 186579476 186579476 single base substitution C T upstream_gene_variant BRCA-EU 4 186579942 186579942 single base substitution C T downstream_gene_variant BRCA-EU 4 186579942 186579942 single base substitution C T intron_variant BRCA-EU 4 186579942 186579942 single base substitution C T upstream_gene_variant BRCA-EU 4 186580284 186580284 single base substitution T C downstream_gene_variant BRCA-EU 4 186580284 186580284 single base substitution T C intron_variant BRCA-EU 4 186580284 186580284 single base substitution T C upstream_gene_variant BRCA-EU 4 186583949 186583949 single base substitution C G downstream_gene_variant BRCA-EU 4 186583949 186583949 single base substitution C G intron_variant BRCA-EU 4 186584017 186584017 single base substitution C A downstream_gene_variant BRCA-EU 4 186584017 186584017 single base substitution C A intron_variant BRCA-EU 4 186584063 186584063 single base substitution C G downstream_gene_variant BRCA-EU 4 186584063 186584063 single base substitution C G intron_variant BRCA-EU 4 186584120 186584120 single base substitution C G downstream_gene_variant BRCA-EU 4 186584120 186584120 single base substitution C G intron_variant BRCA-EU 4 186585458 186585458 single base substitution T C downstream_gene_variant BRCA-EU 4 186585458 186585458 single base substitution T C intron_variant BRCA-EU 4 186588508 186588518 deletion of <=200bp GCACGTTGTTA - intron_variant BRCA-EU 4 186591878 186591878 single base substitution C T intron_variant BRCA-EU 4 186593286 186593286 single base substitution T C intron_variant BRCA-EU 4 186593397 186593397 single base substitution C G intron_variant BRCA-EU 4 186593427 186593427 single base substitution A C intron_variant BRCA-EU 4 186594925 186594925 single base substitution C T downstream_gene_variant BRCA-EU 4 186594925 186594925 single base substitution C T intron_variant BRCA-EU 4 186595721 186595721 single base substitution C G downstream_gene_variant BRCA-EU 4 186595721 186595721 single base substitution C G intron_variant BRCA-EU 4 186596221 186596221 single base substitution A C downstream_gene_variant BRCA-EU 4 186596221 186596221 single base substitution A C intron_variant BRCA-EU 4 186596393 186596393 single base substitution T C downstream_gene_variant BRCA-EU 4 186596393 186596393 single base substitution T C intron_variant BRCA-EU 4 186596867 186596867 single base substitution T C downstream_gene_variant BRCA-EU 4 186596867 186596867 single base substitution T C intron_variant BRCA-EU 4 186597541 186597541 single base substitution A G downstream_gene_variant BRCA-EU 4 186597541 186597541 single base substitution A G intron_variant BRCA-EU 4 186597701 186597701 single base substitution A G downstream_gene_variant BRCA-EU 4 186597701 186597701 single base substitution A G intron_variant BRCA-EU 4 186598600 186598600 single base substitution C T downstream_gene_variant BRCA-EU 4 186598600 186598600 single base substitution C T intron_variant BRCA-EU 4 186598600 186598600 single base substitution C T missense_variant E150K 448G>A BRCA-EU 4 186598600 186598600 single base substitution C T missense_variant E15K 43G>A BRCA-EU 4 186598724 186598724 single base substitution G A 5_prime_UTR_variant BRCA-EU 4 186598724 186598724 single base substitution G A downstream_gene_variant BRCA-EU 4 186598724 186598724 single base substitution G A exon_variant BRCA-EU 4 186598724 186598724 single base substitution G A intron_variant BRCA-EU 4 186598724 186598724 single base substitution G A synonymous_variant V108V 324C>T BRCA-EU 4 186600415 186600415 single base substitution C T intron_variant BRCA-EU 4 186601108 186601108 single base substitution G A downstream_gene_variant BRCA-EU 4 186601108 186601108 single base substitution G A intron_variant BRCA-EU 4 186602545 186602545 single base substitution A G downstream_gene_variant BRCA-EU 4 186602545 186602545 single base substitution A G intron_variant BRCA-EU 4 186602652 186602652 single base substitution G T downstream_gene_variant BRCA-EU 4 186602652 186602652 single base substitution G T intron_variant BRCA-EU 4 186603259 186603259 single base substitution C T downstream_gene_variant BRCA-EU 4 186603259 186603259 single base substitution C T intron_variant BRCA-EU 4 186603436 186603436 single base substitution C T downstream_gene_variant BRCA-EU 4 186603436 186603436 single base substitution C T intron_variant BRCA-EU 4 186605057 186605057 single base substitution A T downstream_gene_variant BRCA-EU 4 186605057 186605057 single base substitution A T intron_variant BRCA-EU 4 186605655 186605655 single base substitution A C downstream_gene_variant BRCA-EU 4 186605655 186605655 single base substitution A C intron_variant BRCA-EU 4 186605962 186605962 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 186605962 186605962 single base substitution C T downstream_gene_variant BRCA-EU 4 186605962 186605962 single base substitution C T exon_variant BRCA-EU 4 186605962 186605962 single base substitution C T intron_variant BRCA-EU 4 186605962 186605962 single base substitution C T missense_variant V17I 49G>A BRCA-EU 4 186605962 186605962 single base substitution C T missense_variant V3I 7G>A BRCA-EU 4 186606524 186606524 deletion of <=200bp T - intron_variant BRCA-EU 4 186606744 186606744 single base substitution G A intron_variant BRCA-EU 4 186610812 186610812 single base substitution G A intron_variant BRCA-EU 4 186612596 186612596 single base substitution T C intron_variant BRCA-EU 4 186612596 186612596 single base substitution T C upstream_gene_variant BRCA-EU 4 186612652 186612652 single base substitution C T intron_variant BRCA-EU 4 186612652 186612652 single base substitution C T upstream_gene_variant BRCA-EU 4 186613537 186613537 single base substitution A T intron_variant BRCA-EU 4 186613537 186613537 single base substitution A T upstream_gene_variant BRCA-EU 4 186616196 186616196 single base substitution A C intron_variant BRCA-EU 4 186616196 186616196 single base substitution A C upstream_gene_variant BRCA-EU 4 186616860 186616860 single base substitution A G intron_variant BRCA-EU 4 186620687 186620687 single base substitution C T intron_variant BRCA-EU 4 186629249 186629249 single base substitution G C intron_variant BRCA-EU 4 186630183 186630183 deletion of <=200bp T - intron_variant BRCA-EU 4 186630872 186630872 single base substitution C G intron_variant BRCA-EU 4 186632136 186632136 single base substitution T G intron_variant BRCA-EU 4 186634629 186634629 single base substitution G C intron_variant BRCA-EU 4 186636155 186636155 single base substitution T C intron_variant BRCA-EU 4 186641222 186641222 single base substitution A T intron_variant BRCA-EU 4 186643687 186643687 single base substitution G A intron_variant BRCA-EU 4 186645670 186645670 single base substitution C A intron_variant BRCA-EU 4 186645672 186645672 single base substitution T A intron_variant BRCA-EU 4 186645693 186645693 single base substitution C T intron_variant BRCA-EU 4 186647339 186647339 single base substitution A C intron_variant BRCA-EU 4 186648074 186648074 single base substitution G A intron_variant BRCA-EU 4 186653147 186653147 single base substitution A G intron_variant BRCA-EU 4 186657557 186657557 single base substitution G A intron_variant BRCA-EU 4 186657890 186657890 single base substitution G T intron_variant BRCA-EU 4 186659621 186659621 single base substitution G C intron_variant BRCA-EU 4 186660270 186660270 single base substitution G C intron_variant BRCA-EU 4 186660461 186660461 single base substitution G C intron_variant BRCA-EU 4 186662380 186662380 single base substitution T C intron_variant BRCA-EU 4 186662380 186662380 single base substitution T C upstream_gene_variant BRCA-EU 4 186664160 186664160 single base substitution G C intron_variant BRCA-EU 4 186664160 186664160 single base substitution G C upstream_gene_variant BRCA-EU 4 186664379 186664379 single base substitution C T intron_variant BRCA-EU 4 186664379 186664379 single base substitution C T upstream_gene_variant BRCA-EU 4 186664593 186664593 single base substitution G A intron_variant BRCA-EU 4 186664593 186664593 single base substitution G A upstream_gene_variant BRCA-EU 4 186669718 186669718 deletion of <=200bp C - intron_variant BRCA-EU 4 186670399 186670399 single base substitution A G intron_variant BRCA-EU 4 186670601 186670601 single base substitution G C intron_variant BRCA-EU 4 186671346 186671346 single base substitution G A intron_variant BRCA-EU 4 186671529 186671529 single base substitution G T intron_variant BRCA-EU 4 186672779 186672779 single base substitution C T intron_variant BRCA-EU 4 186674589 186674589 single base substitution G C downstream_gene_variant BRCA-EU 4 186674589 186674589 single base substitution G C intron_variant BRCA-EU 4 186677599 186677599 single base substitution C A downstream_gene_variant BRCA-EU 4 186677599 186677599 single base substitution C A intron_variant BRCA-EU 4 186679472 186679472 single base substitution C T intron_variant BRCA-EU 4 186679777 186679777 single base substitution G A intron_variant BRCA-EU 4 186681987 186681987 single base substitution C A intron_variant BRCA-EU 4 186682245 186682245 single base substitution G A intron_variant BRCA-EU 4 186683242 186683242 single base substitution G A intron_variant BRCA-EU 4 186683242 186683242 single base substitution G A upstream_gene_variant BRCA-EU 4 186683394 186683394 single base substitution G C intron_variant BRCA-EU 4 186683394 186683394 single base substitution G C upstream_gene_variant BRCA-EU 4 186683629 186683629 single base substitution G T intron_variant BRCA-EU 4 186683629 186683629 single base substitution G T upstream_gene_variant BRCA-EU 4 186684873 186684873 single base substitution G C intron_variant BRCA-EU 4 186684873 186684873 single base substitution G C upstream_gene_variant BRCA-EU 4 186686195 186686195 insertion of <=200bp - T intron_variant BRCA-EU 4 186686195 186686195 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 186686346 186686346 single base substitution G A intron_variant BRCA-EU 4 186686346 186686346 single base substitution G A upstream_gene_variant BRCA-EU 4 186686370 186686370 single base substitution A C intron_variant BRCA-EU 4 186686370 186686370 single base substitution A C upstream_gene_variant BRCA-EU 4 186688886 186688886 single base substitution C G downstream_gene_variant BRCA-EU 4 186688886 186688886 single base substitution C G intron_variant BRCA-EU 4 186690861 186690861 single base substitution C G downstream_gene_variant BRCA-EU 4 186690861 186690861 single base substitution C G intron_variant BRCA-EU 4 186692026 186692026 single base substitution G C downstream_gene_variant BRCA-EU 4 186692026 186692026 single base substitution G C intron_variant BRCA-EU 4 186692709 186692709 single base substitution G A downstream_gene_variant BRCA-EU 4 186692709 186692709 single base substitution G A exon_variant BRCA-EU 4 186692709 186692709 single base substitution G A intron_variant BRCA-EU 4 186693405 186693405 single base substitution G A downstream_gene_variant BRCA-EU 4 186693405 186693405 single base substitution G A exon_variant BRCA-EU 4 186693405 186693405 single base substitution G A intron_variant BRCA-EU 4 186695354 186695354 single base substitution G A downstream_gene_variant BRCA-EU 4 186695354 186695354 single base substitution G A exon_variant BRCA-EU 4 186695354 186695354 single base substitution G A intron_variant BRCA-EU 4 186696350 186696353 deletion of <=200bp AATT - downstream_gene_variant BRCA-EU 4 186696350 186696353 deletion of <=200bp AATT - exon_variant BRCA-EU 4 186696350 186696353 deletion of <=200bp AATT - intron_variant BRCA-EU 4 186696723 186696723 single base substitution G C intron_variant BRCA-EU 4 186696723 186696723 single base substitution G C upstream_gene_variant BRCA-EU 4 186699031 186699031 single base substitution C A intron_variant BRCA-EU 4 186699031 186699031 single base substitution C A upstream_gene_variant BRCA-EU 4 186699296 186699296 single base substitution A G intron_variant BRCA-EU 4 186699296 186699296 single base substitution A G upstream_gene_variant BRCA-EU 4 186700073 186700073 single base substitution G A intron_variant BRCA-EU 4 186700073 186700073 single base substitution G A upstream_gene_variant BRCA-EU 4 186700983 186700983 single base substitution C T intron_variant BRCA-EU 4 186700983 186700983 single base substitution C T upstream_gene_variant BRCA-EU 4 186701353 186701353 single base substitution G C intron_variant BRCA-EU 4 186701353 186701353 single base substitution G C upstream_gene_variant BRCA-EU 4 186701555 186701555 single base substitution C G intron_variant BRCA-EU 4 186701555 186701555 single base substitution C G upstream_gene_variant BRCA-EU 4 186702795 186702795 single base substitution C T intron_variant BRCA-EU 4 186703847 186703847 single base substitution G A intron_variant BRCA-EU 4 186704159 186704159 single base substitution G A intron_variant BRCA-EU 4 186704165 186704165 single base substitution T A intron_variant BRCA-EU 4 186705379 186705379 single base substitution G T intron_variant BRCA-EU 4 186709738 186709738 single base substitution G C intron_variant BRCA-EU 4 186709924 186709924 single base substitution C T intron_variant BRCA-EU 4 186710447 186710447 single base substitution C A intron_variant BRCA-EU 4 186711286 186711287 deletion of <=200bp TA - intron_variant BRCA-EU 4 186711760 186711760 single base substitution C G intron_variant BRCA-EU 4 186711760 186711760 single base substitution C T intron_variant BRCA-EU 4 186711883 186711883 single base substitution T A intron_variant BRCA-EU 4 186712346 186712346 single base substitution T C intron_variant BRCA-EU 4 186714753 186714753 single base substitution G A intron_variant BRCA-EU 4 186715042 186715042 single base substitution A T intron_variant BRCA-EU 4 186715236 186715236 insertion of <=200bp - A intron_variant BRCA-EU 4 186715421 186715421 single base substitution A T intron_variant BRCA-EU 4 186716492 186716492 single base substitution C T intron_variant BRCA-EU 4 186716851 186716851 single base substitution A G intron_variant BRCA-EU 4 186717180 186717180 single base substitution C A intron_variant BRCA-EU 4 186717223 186717223 insertion of <=200bp - T intron_variant BRCA-EU 4 186720151 186720151 single base substitution C T intron_variant BRCA-EU 4 186721118 186721118 single base substitution G A intron_variant BRCA-EU 4 186721126 186721126 single base substitution C T intron_variant BRCA-EU 4 186723737 186723737 single base substitution G A intron_variant BRCA-EU 4 186729330 186729330 single base substitution G A intron_variant BRCA-EU 4 186733198 186733198 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 186733198 186733198 single base substitution C T exon_variant BRCA-EU 4 186733198 186733198 single base substitution C T intron_variant BRCA-EU 4 186733198 186733198 single base substitution C T upstream_gene_variant BRCA-EU 4 186733489 186733490 deletion of <=200bp CT - intron_variant BRCA-EU 4 186733489 186733490 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 4 186733671 186733671 deletion of <=200bp T - intron_variant BRCA-EU 4 186733671 186733671 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 186734776 186734776 single base substitution C A intron_variant BRCA-EU 4 186734776 186734776 single base substitution C A upstream_gene_variant BRCA-EU 4 186734956 186734956 single base substitution C T intron_variant BRCA-EU 4 186734956 186734956 single base substitution C T upstream_gene_variant BRCA-EU 4 186737853 186737853 single base substitution C T intron_variant BRCA-EU 4 186737853 186737853 single base substitution C T upstream_gene_variant BRCA-EU 4 186741968 186741968 single base substitution C A intron_variant BRCA-EU 4 186742824 186742824 single base substitution C T intron_variant BRCA-EU 4 186743285 186743285 single base substitution G C intron_variant BRCA-EU 4 186745066 186745066 single base substitution C T intron_variant BRCA-EU 4 186745965 186745965 single base substitution C T intron_variant BRCA-EU 4 186746491 186746491 single base substitution C G intron_variant BRCA-EU 4 186746797 186746797 single base substitution C G intron_variant BRCA-EU 4 186750300 186750300 single base substitution T C intron_variant BRCA-EU 4 186751009 186751009 single base substitution C G intron_variant BRCA-EU 4 186751542 186751542 deletion of <=200bp T - intron_variant BRCA-EU 4 186752700 186752700 single base substitution G A intron_variant BRCA-EU 4 186754680 186754680 single base substitution T G intron_variant BRCA-EU 4 186755369 186755369 single base substitution C G intron_variant BRCA-EU 4 186755752 186755752 single base substitution T C intron_variant BRCA-EU 4 186756785 186756785 single base substitution A G intron_variant BRCA-EU 4 186757207 186757207 single base substitution G C intron_variant BRCA-EU 4 186758454 186758454 single base substitution T C intron_variant BRCA-EU 4 186759774 186759774 single base substitution T A intron_variant BRCA-EU 4 186759866 186759866 single base substitution G A intron_variant BRCA-EU 4 186760040 186760040 single base substitution C T intron_variant BRCA-EU 4 186760213 186760213 single base substitution G A intron_variant BRCA-EU 4 186763456 186763456 single base substitution A G intron_variant BRCA-EU 4 186765116 186765116 single base substitution C T intron_variant BRCA-EU 4 186765229 186765229 single base substitution G A intron_variant BRCA-EU 4 186766471 186766471 single base substitution G A intron_variant BRCA-EU 4 186767904 186767904 single base substitution C A intron_variant BRCA-EU 4 186768431 186768431 single base substitution A G intron_variant BRCA-EU 4 186768995 186768995 single base substitution T C intron_variant BRCA-EU 4 186770180 186770180 single base substitution C T intron_variant BRCA-EU 4 186770818 186770818 single base substitution A T intron_variant BRCA-EU 4 186771027 186771027 single base substitution C G intron_variant BRCA-EU 4 186771641 186771641 single base substitution T C intron_variant BRCA-EU 4 186773513 186773513 single base substitution A T intron_variant BRCA-EU 4 186774912 186774912 deletion of <=200bp T - intron_variant BRCA-EU 4 186777724 186777724 single base substitution C G intron_variant BRCA-EU 4 186778238 186778238 single base substitution A T intron_variant BRCA-EU 4 186780804 186780804 single base substitution G A intron_variant BRCA-EU 4 186782553 186782553 single base substitution C G intron_variant BRCA-EU 4 186784540 186784540 single base substitution G A intron_variant BRCA-EU 4 186785771 186785771 single base substitution A G intron_variant BRCA-EU 4 186785928 186785928 single base substitution T C intron_variant BRCA-EU 4 186786467 186786467 single base substitution C T intron_variant BRCA-EU 4 186786469 186786469 single base substitution C G intron_variant BRCA-EU 4 186786528 186786528 single base substitution C T intron_variant BRCA-EU 4 186786795 186786795 single base substitution C G intron_variant BRCA-EU 4 186788176 186788176 single base substitution T C intron_variant BRCA-EU 4 186791394 186791394 single base substitution G A intron_variant BRCA-EU 4 186793472 186793472 single base substitution C A intron_variant BRCA-EU 4 186793621 186793621 single base substitution G A intron_variant BRCA-EU 4 186795710 186795710 deletion of <=200bp T - intron_variant BRCA-EU 4 186795997 186795997 insertion of <=200bp - A intron_variant BRCA-EU 4 186796459 186796459 single base substitution G C intron_variant BRCA-EU 4 186797489 186797489 single base substitution T A intron_variant BRCA-EU 4 186798477 186798477 deletion of <=200bp A - intron_variant BRCA-EU 4 186800362 186800362 single base substitution C T intron_variant BRCA-EU 4 186800377 186800377 single base substitution T A intron_variant BRCA-EU 4 186800743 186800743 single base substitution C T intron_variant BRCA-EU 4 186801050 186801050 single base substitution C A intron_variant BRCA-EU 4 186801188 186801188 single base substitution G C intron_variant BRCA-EU 4 186801951 186801951 single base substitution T G intron_variant BRCA-EU 4 186802043 186802043 single base substitution G A intron_variant BRCA-EU 4 186803212 186803212 single base substitution C G intron_variant BRCA-EU 4 186804132 186804132 single base substitution C A intron_variant BRCA-EU 4 186805108 186805108 single base substitution C G intron_variant BRCA-EU 4 186806030 186806030 single base substitution A G intron_variant BRCA-EU 4 186806233 186806233 single base substitution A T intron_variant BRCA-EU 4 186806256 186806256 single base substitution A T intron_variant BRCA-EU 4 186806264 186806264 single base substitution A T intron_variant BRCA-EU 4 186806365 186806365 single base substitution G A intron_variant BRCA-EU 4 186808247 186808247 single base substitution C T intron_variant BRCA-EU 4 186809001 186809001 single base substitution C T intron_variant BRCA-EU 4 186810184 186810208 deletion of <=200bp CTGAGTGAGCTTCCTAAGCTTCCCT - intron_variant BRCA-EU 4 186812652 186812652 single base substitution C T intron_variant BRCA-EU 4 186812807 186812807 single base substitution C T intron_variant BRCA-EU 4 186812953 186812953 single base substitution T C intron_variant BRCA-EU 4 186813051 186813051 single base substitution C T intron_variant BRCA-EU 4 186813086 186813109 deletion of <=200bp TCAAGGGATTCCCCTGCCTCAGCC - intron_variant BRCA-EU 4 186814347 186814347 single base substitution C T intron_variant BRCA-EU 4 186814442 186814442 single base substitution A T intron_variant BRCA-EU 4 186814716 186814716 single base substitution G C intron_variant BRCA-EU 4 186817435 186817435 single base substitution G A intron_variant BRCA-EU 4 186820052 186820052 single base substitution T A intron_variant BRCA-EU 4 186823633 186823633 single base substitution C T intron_variant BRCA-EU 4 186823715 186823715 single base substitution C T intron_variant BRCA-EU 4 186825225 186825225 deletion of <=200bp A - intron_variant BRCA-EU 4 186825712 186825712 single base substitution C T intron_variant BRCA-EU 4 186826890 186826890 single base substitution T A intron_variant BRCA-EU 4 186829999 186829999 single base substitution A T intron_variant BRCA-EU 4 186830140 186830140 single base substitution C G intron_variant BRCA-EU 4 186832698 186832698 insertion of <=200bp - G intron_variant BRCA-EU 4 186833095 186833095 single base substitution C T intron_variant BRCA-EU 4 186834035 186834035 single base substitution C G intron_variant BRCA-EU 4 186836892 186836892 single base substitution G C intron_variant BRCA-EU 4 186837154 186837154 single base substitution G A intron_variant BRCA-EU 4 186837723 186837723 single base substitution G A intron_variant BRCA-EU 4 186837994 186837994 single base substitution T A intron_variant BRCA-EU 4 186838497 186838497 single base substitution C T intron_variant BRCA-EU 4 186839613 186839613 single base substitution C T intron_variant BRCA-EU 4 186841239 186841250 deletion of <=200bp TTGGAAAATGAG - intron_variant BRCA-EU 4 186841379 186841379 single base substitution G C intron_variant BRCA-EU 4 186843299 186843299 single base substitution G T intron_variant BRCA-EU 4 186843551 186843551 single base substitution G A intron_variant BRCA-EU 4 186844274 186844274 single base substitution C A intron_variant BRCA-EU 4 186844811 186844811 single base substitution G C intron_variant BRCA-EU 4 186848483 186848483 single base substitution G A intron_variant BRCA-EU 4 186849009 186849009 single base substitution C G intron_variant BRCA-EU 4 186849298 186849298 single base substitution A G intron_variant BRCA-EU 4 186849492 186849492 single base substitution A T intron_variant BRCA-EU 4 186849760 186849760 single base substitution C T intron_variant BRCA-EU 4 186849784 186849784 single base substitution C T intron_variant BRCA-EU 4 186850640 186850640 single base substitution T C intron_variant BRCA-EU 4 186851687 186851687 single base substitution C T intron_variant BRCA-EU 4 186852071 186852071 single base substitution G A intron_variant BRCA-EU 4 186852432 186852432 single base substitution A C intron_variant BRCA-EU 4 186853968 186853968 single base substitution G A intron_variant BRCA-EU 4 186856400 186856400 single base substitution T C intron_variant BRCA-EU 4 186856400 186856400 single base substitution T C upstream_gene_variant BRCA-EU 4 186856423 186856423 single base substitution C A intron_variant BRCA-EU 4 186856423 186856423 single base substitution C A upstream_gene_variant BRCA-EU 4 186857341 186857341 single base substitution T C intron_variant BRCA-EU 4 186857341 186857341 single base substitution T C upstream_gene_variant BRCA-EU 4 186862123 186862123 single base substitution C G intron_variant BRCA-EU 4 186862583 186862583 single base substitution C A intron_variant BRCA-EU 4 186862854 186862854 single base substitution C G intron_variant BRCA-EU 4 186862911 186862911 single base substitution C T intron_variant BRCA-EU 4 186864542 186864542 single base substitution G C intron_variant BRCA-EU 4 186865872 186865872 single base substitution T C intron_variant BRCA-EU 4 186866750 186866750 single base substitution T A intron_variant BRCA-EU 4 186868570 186868570 deletion of <=200bp T - intron_variant BRCA-EU 4 186869967 186869967 single base substitution A C intron_variant BRCA-EU 4 186870489 186870489 single base substitution T C intron_variant BRCA-EU 4 186870721 186870721 single base substitution G A intron_variant BRCA-EU 4 186871760 186871760 single base substitution C T intron_variant BRCA-EU 4 186872540 186872540 single base substitution T G intron_variant BRCA-EU 4 186874338 186874338 single base substitution G A intron_variant BRCA-EU 4 186874623 186874623 single base substitution G A intron_variant BRCA-EU 4 186874802 186874802 single base substitution C T intron_variant BRCA-EU 4 186875896 186875896 single base substitution G T intron_variant BRCA-EU 4 186876799 186876799 single base substitution G C intron_variant BRCA-EU 4 186877233 186877233 single base substitution C G intron_variant BRCA-EU 4 186877657 186877657 single base substitution C G 5_prime_UTR_variant BRCA-EU 4 186877657 186877657 single base substitution C G upstream_gene_variant BRCA-EU 4 186879033 186879033 single base substitution A G upstream_gene_variant BRCA-EU 4 186879166 186879166 single base substitution C G upstream_gene_variant BRCA-EU 4 186879287 186879287 single base substitution C G upstream_gene_variant BRCA-EU 4 186881694 186881694 single base substitution T C upstream_gene_variant BRCA-EU 4 186882355 186882355 single base substitution G C upstream_gene_variant BRCA-FR 4 186517909 186517909 single base substitution G C intron_variant BRCA-FR 4 186520223 186520223 single base substitution C G intron_variant BRCA-FR 4 186530046 186530046 single base substitution C G intron_variant BRCA-FR 4 186551359 186551359 single base substitution A T downstream_gene_variant BRCA-FR 4 186551359 186551359 single base substitution A T intron_variant BRCA-FR 4 186551359 186551359 single base substitution A T upstream_gene_variant BRCA-FR 4 186552160 186552160 single base substitution C T intron_variant BRCA-FR 4 186552160 186552160 single base substitution C T upstream_gene_variant BRCA-FR 4 186552298 186552298 single base substitution A G intron_variant BRCA-FR 4 186552298 186552298 single base substitution A G upstream_gene_variant BRCA-FR 4 186552611 186552611 single base substitution G A intron_variant BRCA-FR 4 186552611 186552611 single base substitution G A upstream_gene_variant BRCA-FR 4 186553002 186553002 single base substitution C A intron_variant BRCA-FR 4 186553002 186553002 single base substitution C A upstream_gene_variant BRCA-FR 4 186558044 186558044 single base substitution G A downstream_gene_variant BRCA-FR 4 186558044 186558044 single base substitution G A intron_variant BRCA-FR 4 186558483 186558483 single base substitution G C downstream_gene_variant BRCA-FR 4 186558483 186558483 single base substitution G C intron_variant BRCA-FR 4 186575825 186575825 single base substitution C G downstream_gene_variant BRCA-FR 4 186575825 186575825 single base substitution C G intron_variant BRCA-FR 4 186575825 186575825 single base substitution C G upstream_gene_variant BRCA-FR 4 186585764 186585764 single base substitution C T downstream_gene_variant BRCA-FR 4 186585764 186585764 single base substitution C T intron_variant BRCA-FR 4 186598600 186598600 single base substitution C T downstream_gene_variant BRCA-FR 4 186598600 186598600 single base substitution C T intron_variant BRCA-FR 4 186598600 186598600 single base substitution C T missense_variant E150K 448G>A BRCA-FR 4 186598600 186598600 single base substitution C T missense_variant E15K 43G>A BRCA-FR 4 186605057 186605057 single base substitution A T downstream_gene_variant BRCA-FR 4 186605057 186605057 single base substitution A T intron_variant BRCA-FR 4 186606274 186606274 single base substitution C T intron_variant BRCA-FR 4 186612652 186612652 single base substitution C T intron_variant BRCA-FR 4 186612652 186612652 single base substitution C T upstream_gene_variant BRCA-FR 4 186613537 186613537 single base substitution A T intron_variant BRCA-FR 4 186613537 186613537 single base substitution A T upstream_gene_variant BRCA-FR 4 186641222 186641222 single base substitution A T intron_variant BRCA-FR 4 186643337 186643337 single base substitution G T intron_variant BRCA-FR 4 186643687 186643687 single base substitution G A intron_variant BRCA-FR 4 186686370 186686370 single base substitution A C intron_variant BRCA-FR 4 186686370 186686370 single base substitution A C upstream_gene_variant BRCA-FR 4 186692026 186692026 single base substitution G C downstream_gene_variant BRCA-FR 4 186692026 186692026 single base substitution G C intron_variant BRCA-FR 4 186701040 186701040 single base substitution C A intron_variant BRCA-FR 4 186701040 186701040 single base substitution C A upstream_gene_variant BRCA-FR 4 186711760 186711760 single base substitution C G intron_variant BRCA-FR 4 186717180 186717180 single base substitution C A intron_variant BRCA-FR 4 186721118 186721118 single base substitution G A intron_variant BRCA-FR 4 186729330 186729330 single base substitution G A intron_variant BRCA-FR 4 186729493 186729493 single base substitution T G intron_variant BRCA-FR 4 186733304 186733304 single base substitution G A 5_prime_UTR_variant BRCA-FR 4 186733304 186733304 single base substitution G A exon_variant BRCA-FR 4 186733304 186733304 single base substitution G A intron_variant BRCA-FR 4 186733304 186733304 single base substitution G A upstream_gene_variant BRCA-FR 4 186733514 186733514 single base substitution C T intron_variant BRCA-FR 4 186733514 186733514 single base substitution C T upstream_gene_variant BRCA-FR 4 186740340 186740340 single base substitution T C intron_variant BRCA-FR 4 186749643 186749643 single base substitution G A intron_variant BRCA-FR 4 186755615 186755615 single base substitution A T intron_variant BRCA-FR 4 186756687 186756687 single base substitution G C intron_variant BRCA-FR 4 186759651 186759651 single base substitution C G intron_variant BRCA-FR 4 186768431 186768431 single base substitution A G intron_variant BRCA-FR 4 186771027 186771027 single base substitution C G intron_variant BRCA-FR 4 186786795 186786795 single base substitution C G intron_variant BRCA-FR 4 186789435 186789435 single base substitution C T intron_variant BRCA-FR 4 186791394 186791394 single base substitution G A intron_variant BRCA-FR 4 186823633 186823633 single base substitution C T intron_variant BRCA-FR 4 186839613 186839613 single base substitution C T intron_variant BRCA-FR 4 186843551 186843551 single base substitution G A intron_variant BRCA-FR 4 186849009 186849009 single base substitution C G intron_variant BRCA-FR 4 186850640 186850640 single base substitution T C intron_variant BRCA-FR 4 186856539 186856539 single base substitution C T intron_variant BRCA-FR 4 186856539 186856539 single base substitution C T upstream_gene_variant BRCA-FR 4 186861793 186861793 single base substitution C T intron_variant BRCA-FR 4 186864542 186864542 single base substitution G C intron_variant BRCA-FR 4 186870721 186870721 single base substitution G A intron_variant BRCA-FR 4 186877657 186877657 single base substitution C G 5_prime_UTR_variant BRCA-FR 4 186877657 186877657 single base substitution C G upstream_gene_variant BRCA-FR 4 186879166 186879166 single base substitution C G upstream_gene_variant BRCA-FR 4 186879287 186879287 single base substitution C G upstream_gene_variant BRCA-UK 4 186530492 186530492 single base substitution C T intron_variant BRCA-UK 4 186552264 186552270 deletion of <=200bp TCATCTG - intron_variant BRCA-UK 4 186552264 186552270 deletion of <=200bp TCATCTG - upstream_gene_variant BRCA-UK 4 186564394 186564394 single base substitution C T downstream_gene_variant BRCA-UK 4 186564394 186564394 single base substitution C T intron_variant BRCA-UK 4 186660461 186660461 single base substitution G C intron_variant BRCA-UK 4 186679472 186679472 single base substitution C T intron_variant BRCA-UK 4 186703847 186703847 single base substitution G A intron_variant BRCA-UK 4 186704159 186704159 single base substitution G A intron_variant BRCA-UK 4 186742824 186742824 single base substitution C T intron_variant BRCA-UK 4 186770180 186770180 single base substitution C T intron_variant BRCA-UK 4 186793443 186793443 single base substitution G A intron_variant BRCA-UK 4 186800377 186800377 single base substitution T A intron_variant BRCA-UK 4 186839100 186839100 single base substitution C G intron_variant BRCA-UK 4 186841379 186841379 single base substitution G C intron_variant BRCA-UK 4 186862123 186862123 single base substitution C G intron_variant BRCA-UK 4 186862854 186862854 single base substitution C G intron_variant BRCA-US 4 186510869 186510869 single base substitution C T downstream_gene_variant BRCA-US 4 186510869 186510869 single base substitution C T exon_variant BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D1069N 3205G>A BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D1169N 3505G>A BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D613N 1837G>A BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D630N 1888G>A BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D635N 1903G>A BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D700N 2098G>A BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D793N 2377G>A BRCA-US 4 186510869 186510869 single base substitution C T missense_variant D973N 2917G>A BRCA-US 4 186528172 186528172 single base substitution G A exon_variant BRCA-US 4 186528172 186528172 single base substitution G A intron_variant BRCA-US 4 186544158 186544158 single base substitution A T downstream_gene_variant BRCA-US 4 186544158 186544158 single base substitution A T intron_variant BRCA-US 4 186544158 186544158 single base substitution A T missense_variant C709S 2125T>A BRCA-US 4 186544158 186544158 single base substitution A T missense_variant C805S 2413T>A BRCA-US 4 186544158 186544158 single base substitution A T missense_variant C905S 2713T>A BRCA-US 4 186544246 186544246 single base substitution C G downstream_gene_variant BRCA-US 4 186544246 186544246 single base substitution C G intron_variant BRCA-US 4 186544246 186544246 single base substitution C G synonymous_variant L679L 2037G>C BRCA-US 4 186544246 186544246 single base substitution C G synonymous_variant L775L 2325G>C BRCA-US 4 186544246 186544246 single base substitution C G synonymous_variant L875L 2625G>C BRCA-US 4 186544315 186544315 single base substitution C T downstream_gene_variant BRCA-US 4 186544315 186544315 single base substitution C T intron_variant BRCA-US 4 186544315 186544315 single base substitution C T synonymous_variant P656P 1968G>A BRCA-US 4 186544315 186544315 single base substitution C T synonymous_variant P752P 2256G>A BRCA-US 4 186544315 186544315 single base substitution C T synonymous_variant P852P 2556G>A BRCA-US 4 186544436 186544436 single base substitution G A downstream_gene_variant BRCA-US 4 186544436 186544436 single base substitution G A intron_variant BRCA-US 4 186544436 186544436 single base substitution G A missense_variant S616L 1847C>T BRCA-US 4 186544436 186544436 single base substitution G A missense_variant S712L 2135C>T BRCA-US 4 186544436 186544436 single base substitution G A missense_variant S812L 2435C>T BRCA-US 4 186544746 186544746 insertion of <=200bp - T downstream_gene_variant BRCA-US 4 186544746 186544746 insertion of <=200bp - T frameshift_variant D513E? BRCA-US 4 186544746 186544746 insertion of <=200bp - T frameshift_variant D609E? BRCA-US 4 186544746 186544746 insertion of <=200bp - T frameshift_variant D709E? BRCA-US 4 186544746 186544746 insertion of <=200bp - T intron_variant BRCA-US 4 186544917 186544917 single base substitution C G downstream_gene_variant BRCA-US 4 186544917 186544917 single base substitution C G intron_variant BRCA-US 4 186544917 186544917 single base substitution C G missense_variant E456Q 1366G>C BRCA-US 4 186544917 186544917 single base substitution C G missense_variant E552Q 1654G>C BRCA-US 4 186544917 186544917 single base substitution C G missense_variant E652Q 1954G>C BRCA-US 4 186545132 186545132 single base substitution T C downstream_gene_variant BRCA-US 4 186545132 186545132 single base substitution T C intron_variant BRCA-US 4 186545132 186545132 single base substitution T C missense_variant Y384C 1151A>G BRCA-US 4 186545132 186545132 single base substitution T C missense_variant Y480C 1439A>G BRCA-US 4 186545132 186545132 single base substitution T C missense_variant Y580C 1739A>G BRCA-US 4 186545551 186545551 single base substitution C T downstream_gene_variant BRCA-US 4 186545551 186545551 single base substitution C T exon_variant BRCA-US 4 186545551 186545551 single base substitution C T intron_variant BRCA-US 4 186545551 186545551 single base substitution C T synonymous_variant Q244Q 732G>A BRCA-US 4 186545551 186545551 single base substitution C T synonymous_variant Q340Q 1020G>A BRCA-US 4 186545551 186545551 single base substitution C T synonymous_variant Q440Q 1320G>A BRCA-US 4 186578664 186578664 single base substitution C G downstream_gene_variant BRCA-US 4 186578664 186578664 single base substitution C G exon_variant BRCA-US 4 186578664 186578664 single base substitution C G missense_variant E107Q 319G>C BRCA-US 4 186578664 186578664 single base substitution C G missense_variant E130Q 388G>C BRCA-US 4 186578664 186578664 single base substitution C G missense_variant E147Q 439G>C BRCA-US 4 186578664 186578664 single base substitution C G missense_variant E161Q 481G>C BRCA-US 4 186578664 186578664 single base substitution C G missense_variant E240Q 718G>C BRCA-US 4 186578664 186578664 single base substitution C G missense_variant E4Q 10G>C BRCA-US 4 186578664 186578664 single base substitution C G missense_variant E61Q 181G>C BRCA-US 4 186578664 186578664 single base substitution C G upstream_gene_variant BTCA-JP 4 186535906 186535906 single base substitution T C downstream_gene_variant BTCA-JP 4 186535906 186535906 single base substitution T C exon_variant BTCA-JP 4 186535906 186535906 single base substitution T C intron_variant BTCA-JP 4 186539880 186539880 single base substitution G T intron_variant BTCA-JP 4 186539880 186539880 single base substitution G T upstream_gene_variant BTCA-JP 4 186544585 186544585 single base substitution C T downstream_gene_variant BTCA-JP 4 186544585 186544585 single base substitution C T intron_variant BTCA-JP 4 186544585 186544585 single base substitution C T synonymous_variant P566P 1698G>A BTCA-JP 4 186544585 186544585 single base substitution C T synonymous_variant P662P 1986G>A BTCA-JP 4 186544585 186544585 single base substitution C T synonymous_variant P762P 2286G>A BTCA-JP 4 186545487 186545487 single base substitution G A downstream_gene_variant BTCA-JP 4 186545487 186545487 single base substitution G A exon_variant BTCA-JP 4 186545487 186545487 single base substitution G A intron_variant BTCA-JP 4 186545487 186545487 single base substitution G A missense_variant R266W 796C>T BTCA-JP 4 186545487 186545487 single base substitution G A missense_variant R362W 1084C>T BTCA-JP 4 186545487 186545487 single base substitution G A missense_variant R462W 1384C>T BTCA-JP 4 186545497 186545497 single base substitution C T downstream_gene_variant BTCA-JP 4 186545497 186545497 single base substitution C T exon_variant BTCA-JP 4 186545497 186545497 single base substitution C T intron_variant BTCA-JP 4 186545497 186545497 single base substitution C T stop_gained W262* 786G>A BTCA-JP 4 186545497 186545497 single base substitution C T stop_gained W358* 1074G>A BTCA-JP 4 186545497 186545497 single base substitution C T stop_gained W458* 1374G>A BTCA-JP 4 186587262 186587262 single base substitution G A downstream_gene_variant BTCA-JP 4 186587262 186587262 single base substitution G A intron_variant BTCA-JP 4 186587262 186587262 single base substitution G A synonymous_variant S95S 285C>T BTCA-JP 4 186598299 186598302 deletion of <=200bp GAAA - downstream_gene_variant BTCA-JP 4 186598299 186598302 deletion of <=200bp GAAA - frameshift_variant LS114 BTCA-JP 4 186598299 186598302 deletion of <=200bp GAAA - intron_variant BTCA-JP 4 186599839 186599839 single base substitution C T intron_variant CESC-US 4 186578742 186578742 single base substitution C T downstream_gene_variant CESC-US 4 186578742 186578742 single base substitution C T exon_variant CESC-US 4 186578742 186578742 single base substitution C T missense_variant D104N 310G>A CESC-US 4 186578742 186578742 single base substitution C T missense_variant D121N 361G>A CESC-US 4 186578742 186578742 single base substitution C T missense_variant D135N 403G>A CESC-US 4 186578742 186578742 single base substitution C T missense_variant D214N 640G>A CESC-US 4 186578742 186578742 single base substitution C T missense_variant D35N 103G>A CESC-US 4 186578742 186578742 single base substitution C T missense_variant D81N 241G>A CESC-US 4 186578742 186578742 single base substitution C T missense_variant D98N 292G>A CESC-US 4 186578742 186578742 single base substitution C T upstream_gene_variant CLLE-ES 4 186515381 186515381 single base substitution G T intron_variant CLLE-ES 4 186515381 186515381 single base substitution G T upstream_gene_variant CLLE-ES 4 186520347 186520347 single base substitution T G intron_variant CLLE-ES 4 186523760 186523760 single base substitution C A downstream_gene_variant CLLE-ES 4 186523760 186523760 single base substitution C A intron_variant CLLE-ES 4 186527900 186527900 single base substitution C T downstream_gene_variant CLLE-ES 4 186527900 186527900 single base substitution C T intron_variant CLLE-ES 4 186543310 186543310 single base substitution G A downstream_gene_variant CLLE-ES 4 186543310 186543310 single base substitution G A intron_variant CLLE-ES 4 186556994 186556994 single base substitution T A downstream_gene_variant CLLE-ES 4 186556994 186556994 single base substitution T A intron_variant CLLE-ES 4 186564082 186564082 single base substitution C A downstream_gene_variant CLLE-ES 4 186564082 186564082 single base substitution C A intron_variant CLLE-ES 4 186591143 186591143 single base substitution C T intron_variant CLLE-ES 4 186612349 186612349 single base substitution C T intron_variant CLLE-ES 4 186612349 186612349 single base substitution C T upstream_gene_variant CLLE-ES 4 186616594 186616594 single base substitution T G intron_variant CLLE-ES 4 186616594 186616594 single base substitution T G upstream_gene_variant CLLE-ES 4 186618509 186618509 single base substitution G A intron_variant CLLE-ES 4 186621481 186621481 single base substitution T A intron_variant CLLE-ES 4 186629950 186629950 single base substitution G A intron_variant CLLE-ES 4 186637961 186637961 single base substitution C T intron_variant CLLE-ES 4 186638290 186638290 single base substitution G A intron_variant CLLE-ES 4 186653102 186653102 single base substitution C T intron_variant CLLE-ES 4 186655832 186655832 single base substitution A T intron_variant CLLE-ES 4 186679777 186679777 single base substitution G A intron_variant CLLE-ES 4 186680642 186680642 single base substitution T C intron_variant CLLE-ES 4 186689657 186689657 single base substitution C A downstream_gene_variant CLLE-ES 4 186689657 186689657 single base substitution C A intron_variant CLLE-ES 4 186689862 186689862 single base substitution A C downstream_gene_variant CLLE-ES 4 186689862 186689862 single base substitution A C intron_variant CLLE-ES 4 186693535 186693535 single base substitution C T downstream_gene_variant CLLE-ES 4 186693535 186693535 single base substitution C T exon_variant CLLE-ES 4 186693535 186693535 single base substitution C T intron_variant CLLE-ES 4 186699827 186699827 single base substitution G T intron_variant CLLE-ES 4 186699827 186699827 single base substitution G T upstream_gene_variant CLLE-ES 4 186704646 186704646 single base substitution T A intron_variant CLLE-ES 4 186711771 186711771 single base substitution T C intron_variant CLLE-ES 4 186719325 186719325 single base substitution G T intron_variant CLLE-ES 4 186719331 186719331 single base substitution C A intron_variant CLLE-ES 4 186722416 186722416 single base substitution T C intron_variant CLLE-ES 4 186723933 186723933 single base substitution T A intron_variant CLLE-ES 4 186728650 186728650 single base substitution G T intron_variant CLLE-ES 4 186730171 186730171 single base substitution C T intron_variant CLLE-ES 4 186734632 186734632 single base substitution C A intron_variant CLLE-ES 4 186734632 186734632 single base substitution C A upstream_gene_variant CLLE-ES 4 186734706 186734706 single base substitution G A intron_variant CLLE-ES 4 186734706 186734706 single base substitution G A upstream_gene_variant CLLE-ES 4 186752742 186752742 single base substitution G A intron_variant CLLE-ES 4 186758664 186758664 single base substitution G A intron_variant CLLE-ES 4 186760057 186760057 single base substitution G A intron_variant CLLE-ES 4 186769163 186769163 single base substitution T C intron_variant CLLE-ES 4 186771129 186771129 single base substitution G A intron_variant CLLE-ES 4 186772117 186772117 single base substitution G A intron_variant CLLE-ES 4 186779013 186779013 single base substitution C T intron_variant CLLE-ES 4 186786146 186786146 single base substitution C T intron_variant CLLE-ES 4 186793191 186793191 single base substitution C T intron_variant CLLE-ES 4 186803451 186803451 single base substitution C T intron_variant CLLE-ES 4 186815369 186815369 single base substitution A C intron_variant CLLE-ES 4 186824740 186824740 single base substitution C T intron_variant CLLE-ES 4 186825575 186825575 single base substitution T C intron_variant CLLE-ES 4 186852561 186852561 single base substitution C T intron_variant CLLE-ES 4 186863072 186863072 single base substitution C T intron_variant CLLE-ES 4 186868666 186868666 single base substitution C T intron_variant CLLE-ES 4 186871221 186871221 single base substitution C A intron_variant CLLE-ES 4 186877164 186877164 single base substitution A G intron_variant CLLE-ES 4 186878125 186878125 single base substitution A C upstream_gene_variant CLLE-ES 4 186878346 186878346 single base substitution G T upstream_gene_variant CLLE-ES 4 186879224 186879224 single base substitution C T upstream_gene_variant CLLE-ES 4 186880529 186880529 single base substitution C T upstream_gene_variant COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E1044E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E1144E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E588E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E605E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E610E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E635E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E675E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E768E? COAD-US 4 186515043 186515043 insertion of <=200bp - C frameshift_variant E948E? COAD-US 4 186515043 186515043 insertion of <=200bp - C upstream_gene_variant COAD-US 4 186536017 186536017 single base substitution C T downstream_gene_variant COAD-US 4 186536017 186536017 single base substitution C T exon_variant COAD-US 4 186536017 186536017 single base substitution C T missense_variant A1051T 3151G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A495T 1483G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A512T 1534G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A517T 1549G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A542T 1624G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A582T 1744G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A675T 2023G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A855T 2563G>A COAD-US 4 186536017 186536017 single base substitution C T missense_variant A951T 2851G>A COAD-US 4 186536214 186536214 single base substitution C T downstream_gene_variant COAD-US 4 186536214 186536214 single base substitution C T exon_variant COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P1013P 3039G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P262P 786G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P457P 1371G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P474P 1422G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P479P 1437G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P504P 1512G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P544P 1632G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P637P 1911G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P817P 2451G>A COAD-US 4 186536214 186536214 single base substitution C T synonymous_variant P913P 2739G>A COAD-US 4 186544108 186544108 single base substitution G A downstream_gene_variant COAD-US 4 186544108 186544108 single base substitution G A intron_variant COAD-US 4 186544108 186544108 single base substitution G A synonymous_variant N725N 2175C>T COAD-US 4 186544108 186544108 single base substitution G A synonymous_variant N821N 2463C>T COAD-US 4 186544108 186544108 single base substitution G A synonymous_variant N921N 2763C>T COAD-US 4 186544436 186544436 single base substitution G A downstream_gene_variant COAD-US 4 186544436 186544436 single base substitution G A intron_variant COAD-US 4 186544436 186544436 single base substitution G A missense_variant S616L 1847C>T COAD-US 4 186544436 186544436 single base substitution G A missense_variant S712L 2135C>T COAD-US 4 186544436 186544436 single base substitution G A missense_variant S812L 2435C>T COAD-US 4 186544761 186544761 single base substitution C A downstream_gene_variant COAD-US 4 186544761 186544761 single base substitution C A intron_variant COAD-US 4 186544761 186544761 single base substitution C A missense_variant V508L 1522G>T COAD-US 4 186544761 186544761 single base substitution C A missense_variant V604L 1810G>T COAD-US 4 186544761 186544761 single base substitution C A missense_variant V704L 2110G>T COAD-US 4 186544835 186544835 single base substitution A G downstream_gene_variant COAD-US 4 186544835 186544835 single base substitution A G intron_variant COAD-US 4 186544835 186544835 single base substitution A G missense_variant I483T 1448T>C COAD-US 4 186544835 186544835 single base substitution A G missense_variant I579T 1736T>C COAD-US 4 186544835 186544835 single base substitution A G missense_variant I679T 2036T>C COAD-US 4 186544879 186544879 single base substitution G C downstream_gene_variant COAD-US 4 186544879 186544879 single base substitution G C intron_variant COAD-US 4 186544879 186544879 single base substitution G C synonymous_variant P468P 1404C>G COAD-US 4 186544879 186544879 single base substitution G C synonymous_variant P564P 1692C>G COAD-US 4 186544879 186544879 single base substitution G C synonymous_variant P664P 1992C>G COAD-US 4 186545198 186545198 single base substitution C T downstream_gene_variant COAD-US 4 186545198 186545198 single base substitution C T intron_variant COAD-US 4 186545198 186545198 single base substitution C T missense_variant R362H 1085G>A COAD-US 4 186545198 186545198 single base substitution C T missense_variant R458H 1373G>A COAD-US 4 186545198 186545198 single base substitution C T missense_variant R558H 1673G>A COAD-US 4 186545274 186545274 single base substitution T C downstream_gene_variant COAD-US 4 186545274 186545274 single base substitution T C intron_variant COAD-US 4 186545274 186545274 single base substitution T C missense_variant N337D 1009A>G COAD-US 4 186545274 186545274 single base substitution T C missense_variant N433D 1297A>G COAD-US 4 186545274 186545274 single base substitution T C missense_variant N533D 1597A>G COAD-US 4 186548067 186548067 single base substitution G A downstream_gene_variant COAD-US 4 186548067 186548067 single base substitution G A exon_variant COAD-US 4 186548067 186548067 single base substitution G A stop_gained R157* 469C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R185* 553C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R224* 670C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R226* 676C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R281* 841C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R352* 1054C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R369* 1105C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R374* 1120C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R381* 1141C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R399* 1195C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R439* 1315C>T COAD-US 4 186548067 186548067 single base substitution G A stop_gained R532* 1594C>T COAD-US 4 186548067 186548067 single base substitution G A upstream_gene_variant COAD-US 4 186548140 186548140 single base substitution C A downstream_gene_variant COAD-US 4 186548140 186548140 single base substitution C A exon_variant COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R132R 396G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R160R 480G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R199R 597G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R201R 603G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R256R 768G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R327R 981G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R344R 1032G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R349R 1047G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R356R 1068G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R374R 1122G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R414R 1242G>T COAD-US 4 186548140 186548140 single base substitution C A synonymous_variant R507R 1521G>T COAD-US 4 186548140 186548140 single base substitution C A upstream_gene_variant COAD-US 4 186559309 186559309 single base substitution C T downstream_gene_variant COAD-US 4 186559309 186559309 single base substitution C T intron_variant COAD-US 4 186559309 186559309 single base substitution C T missense_variant R277H 830G>A COAD-US 4 186560143 186560143 single base substitution C T exon_variant COAD-US 4 186560143 186560143 single base substitution C T intron_variant COAD-US 4 186560143 186560143 single base substitution C T missense_variant R141Q 422G>A COAD-US 4 186560143 186560143 single base substitution C T missense_variant R290Q 869G>A COAD-US 4 186560143 186560143 single base substitution C T missense_variant R330Q 989G>A COAD-US 4 186560143 186560143 single base substitution C T missense_variant R423Q 1268G>A COAD-US 4 186577772 186577772 insertion of <=200bp - A downstream_gene_variant COAD-US 4 186577772 186577772 insertion of <=200bp - A exon_variant COAD-US 4 186577772 186577772 insertion of <=200bp - A frameshift_variant L7L? COAD-US 4 186577772 186577772 insertion of <=200bp - A intron_variant COAD-US 4 186577772 186577772 insertion of <=200bp - A upstream_gene_variant COAD-US 4 186583299 186583299 single base substitution G A downstream_gene_variant COAD-US 4 186583299 186583299 single base substitution G A exon_variant COAD-US 4 186583299 186583299 single base substitution G A missense_variant S104L 311C>T COAD-US 4 186583299 186583299 single base substitution G A missense_variant S118L 353C>T COAD-US 4 186583299 186583299 single base substitution G A missense_variant S18L 53C>T COAD-US 4 186583299 186583299 single base substitution G A missense_variant S197L 590C>T COAD-US 4 186583299 186583299 single base substitution G A missense_variant S64L 191C>T COAD-US 4 186583299 186583299 single base substitution G A missense_variant S81L 242C>T COAD-US 4 186583299 186583299 single base substitution G A missense_variant S87L 260C>T COAD-US 4 186583299 186583299 single base substitution G A upstream_gene_variant COAD-US 4 186598516 186598516 single base substitution C T downstream_gene_variant COAD-US 4 186598516 186598516 single base substitution C T intron_variant COAD-US 4 186598516 186598516 single base substitution C T missense_variant A178T 532G>A COAD-US 4 186598516 186598516 single base substitution C T missense_variant A43T 127G>A COAD-US 4 186598563 186598563 insertion of <=200bp - T downstream_gene_variant COAD-US 4 186598563 186598563 insertion of <=200bp - T frameshift_variant I162I? COAD-US 4 186598563 186598563 insertion of <=200bp - T frameshift_variant I27I? COAD-US 4 186598563 186598563 insertion of <=200bp - T intron_variant COAD-US 4 186599612 186599612 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 4 186599612 186599612 single base substitution G A exon_variant COAD-US 4 186599612 186599612 single base substitution G A stop_gained R20* 58C>T COAD-US 4 186599612 186599612 single base substitution G A stop_gained R37* 109C>T COAD-US 4 186599612 186599612 single base substitution G A stop_gained R43* 127C>T COAD-US 4 186599612 186599612 single base substitution G A stop_gained R51* 151C>T COAD-US 4 186599612 186599612 single base substitution G A stop_gained R60* 178C>T COAD-US 4 186599612 186599612 single base substitution G A stop_gained R74* 220C>T COAD-US 4 186599616 186599616 single base substitution G A 5_prime_UTR_variant COAD-US 4 186599616 186599616 single base substitution G A exon_variant COAD-US 4 186599616 186599616 single base substitution G A synonymous_variant S18S 54C>T COAD-US 4 186599616 186599616 single base substitution G A synonymous_variant S35S 105C>T COAD-US 4 186599616 186599616 single base substitution G A synonymous_variant S41S 123C>T COAD-US 4 186599616 186599616 single base substitution G A synonymous_variant S49S 147C>T COAD-US 4 186599616 186599616 single base substitution G A synonymous_variant S58S 174C>T COAD-US 4 186599616 186599616 single base substitution G A synonymous_variant S72S 216C>T COCA-CN 4 186503393 186503393 single base substitution G A downstream_gene_variant COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R1031H 3092G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R1131H 3392G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R575H 1724G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R592H 1775G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R597H 1790G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R622H 1865G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R662H 1985G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R755H 2264G>A COCA-CN 4 186515082 186515082 single base substitution C T missense_variant R935H 2804G>A COCA-CN 4 186515082 186515082 single base substitution C T upstream_gene_variant COCA-CN 4 186535967 186535967 single base substitution A C downstream_gene_variant COCA-CN 4 186535967 186535967 single base substitution A C exon_variant COCA-CN 4 186535967 186535967 single base substitution A C intron_variant COCA-CN 4 186544195 186544195 single base substitution G A downstream_gene_variant COCA-CN 4 186544195 186544195 single base substitution G A intron_variant COCA-CN 4 186544195 186544195 single base substitution G A synonymous_variant P696P 2088C>T COCA-CN 4 186544195 186544195 single base substitution G A synonymous_variant P792P 2376C>T COCA-CN 4 186544195 186544195 single base substitution G A synonymous_variant P892P 2676C>T COCA-CN 4 186544616 186544616 single base substitution T C downstream_gene_variant COCA-CN 4 186544616 186544616 single base substitution T C intron_variant COCA-CN 4 186544616 186544616 single base substitution T C missense_variant H556R 1667A>G COCA-CN 4 186544616 186544616 single base substitution T C missense_variant H652R 1955A>G COCA-CN 4 186544616 186544616 single base substitution T C missense_variant H752R 2255A>G COCA-CN 4 186545170 186545170 single base substitution G A downstream_gene_variant COCA-CN 4 186545170 186545170 single base substitution G A intron_variant COCA-CN 4 186545170 186545170 single base substitution G A synonymous_variant S371S 1113C>T COCA-CN 4 186545170 186545170 single base substitution G A synonymous_variant S467S 1401C>T COCA-CN 4 186545170 186545170 single base substitution G A synonymous_variant S567S 1701C>T COCA-CN 4 186545308 186545308 single base substitution C T downstream_gene_variant COCA-CN 4 186545308 186545308 single base substitution C T intron_variant COCA-CN 4 186545308 186545308 single base substitution C T synonymous_variant A325A 975G>A COCA-CN 4 186545308 186545308 single base substitution C T synonymous_variant A421A 1263G>A COCA-CN 4 186545308 186545308 single base substitution C T synonymous_variant A521A 1563G>A COCA-CN 4 186545361 186545361 single base substitution T C downstream_gene_variant COCA-CN 4 186545361 186545361 single base substitution T C intron_variant COCA-CN 4 186545361 186545361 single base substitution T C missense_variant S308G 922A>G COCA-CN 4 186545361 186545361 single base substitution T C missense_variant S404G 1210A>G COCA-CN 4 186545361 186545361 single base substitution T C missense_variant S504G 1510A>G COCA-CN 4 186545434 186545434 single base substitution G A downstream_gene_variant COCA-CN 4 186545434 186545434 single base substitution G A exon_variant COCA-CN 4 186545434 186545434 single base substitution G A intron_variant COCA-CN 4 186545434 186545434 single base substitution G A synonymous_variant I283I 849C>T COCA-CN 4 186545434 186545434 single base substitution G A synonymous_variant I379I 1137C>T COCA-CN 4 186545434 186545434 single base substitution G A synonymous_variant I479I 1437C>T COCA-CN 4 186547956 186547956 single base substitution A C downstream_gene_variant COCA-CN 4 186547956 186547956 single base substitution A C intron_variant COCA-CN 4 186551641 186551641 single base substitution T A downstream_gene_variant COCA-CN 4 186551641 186551641 single base substitution T A intron_variant COCA-CN 4 186551641 186551641 single base substitution T A upstream_gene_variant COCA-CN 4 186559109 186559109 single base substitution T C downstream_gene_variant COCA-CN 4 186559109 186559109 single base substitution T C intron_variant COCA-CN 4 186568566 186568566 single base substitution C T intron_variant COCA-CN 4 186568569 186568569 single base substitution T C intron_variant COCA-CN 4 186574014 186574014 single base substitution C G downstream_gene_variant COCA-CN 4 186574014 186574014 single base substitution C G intron_variant COCA-CN 4 186574014 186574014 single base substitution C G upstream_gene_variant COCA-CN 4 186587193 186587193 single base substitution C T downstream_gene_variant COCA-CN 4 186587193 186587193 single base substitution C T intron_variant COCA-CN 4 186587193 186587193 single base substitution C T synonymous_variant P118P 354G>A COCA-CN 4 186598111 186598111 single base substitution C T downstream_gene_variant COCA-CN 4 186598111 186598111 single base substitution C T intron_variant COCA-CN 4 186598694 186598694 single base substitution T G 5_prime_UTR_variant COCA-CN 4 186598694 186598694 single base substitution T G downstream_gene_variant COCA-CN 4 186598694 186598694 single base substitution T G exon_variant COCA-CN 4 186598694 186598694 single base substitution T G intron_variant COCA-CN 4 186598694 186598694 single base substitution T G missense_variant Q118H 354A>C COCA-CN 4 186611711 186611711 single base substitution C T intron_variant COCA-CN 4 186611711 186611711 single base substitution C T splice_region_variant COCA-CN 4 186621547 186621547 single base substitution C A intron_variant COCA-CN 4 186645419 186645419 single base substitution A C intron_variant COCA-CN 4 186688514 186688514 single base substitution C G downstream_gene_variant COCA-CN 4 186688514 186688514 single base substitution C G intron_variant COCA-CN 4 186688522 186688522 single base substitution C T downstream_gene_variant COCA-CN 4 186688522 186688522 single base substitution C T intron_variant COCA-CN 4 186698002 186698002 single base substitution T C intron_variant COCA-CN 4 186698002 186698002 single base substitution T C upstream_gene_variant COCA-CN 4 186717690 186717690 single base substitution G A intron_variant COCA-CN 4 186717694 186717694 single base substitution G A intron_variant COCA-CN 4 186748493 186748493 single base substitution T C intron_variant COCA-CN 4 186748499 186748499 single base substitution T C intron_variant COCA-CN 4 186748505 186748505 single base substitution T C intron_variant COCA-CN 4 186748538 186748538 single base substitution T C intron_variant COCA-CN 4 186748694 186748694 single base substitution T C intron_variant COCA-CN 4 186748775 186748775 single base substitution T C intron_variant COCA-CN 4 186748779 186748779 single base substitution C T intron_variant COCA-CN 4 186748856 186748856 single base substitution C T intron_variant COCA-CN 4 186748859 186748859 single base substitution T C intron_variant COCA-CN 4 186749043 186749043 single base substitution C A intron_variant COCA-CN 4 186749238 186749238 single base substitution C T intron_variant COCA-CN 4 186778522 186778522 single base substitution A G intron_variant COCA-CN 4 186778531 186778531 single base substitution G A intron_variant COCA-CN 4 186778635 186778635 single base substitution A C intron_variant COCA-CN 4 186788257 186788257 single base substitution C A intron_variant COCA-CN 4 186797272 186797272 single base substitution G T intron_variant COCA-CN 4 186812119 186812119 single base substitution C T intron_variant COCA-CN 4 186813365 186813365 single base substitution A C intron_variant COCA-CN 4 186838724 186838724 single base substitution C G intron_variant COCA-CN 4 186851294 186851294 single base substitution A T intron_variant COCA-CN 4 186854171 186854171 single base substitution A C exon_variant COCA-CN 4 186854171 186854171 single base substitution A C intron_variant EOPC-DE 4 186535755 186535755 single base substitution C T downstream_gene_variant EOPC-DE 4 186535755 186535755 single base substitution C T intron_variant EOPC-DE 4 186587631 186587631 single base substitution G A intron_variant EOPC-DE 4 186718113 186718113 single base substitution T G intron_variant EOPC-DE 4 186741941 186741941 single base substitution T G intron_variant EOPC-DE 4 186748919 186748919 single base substitution T C intron_variant EOPC-DE 4 186768504 186768504 single base substitution C G intron_variant EOPC-DE 4 186814651 186814651 single base substitution G A intron_variant ESAD-UK 4 186501734 186501734 single base substitution C A downstream_gene_variant ESAD-UK 4 186503925 186503925 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 186504734 186504734 single base substitution G A downstream_gene_variant ESAD-UK 4 186504863 186504863 single base substitution T C downstream_gene_variant ESAD-UK 4 186508184 186508184 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 186508184 186508184 single base substitution C T downstream_gene_variant ESAD-UK 4 186508334 186508334 single base substitution A C 3_prime_UTR_variant ESAD-UK 4 186508334 186508334 single base substitution A C downstream_gene_variant ESAD-UK 4 186508776 186508776 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 186508776 186508776 single base substitution G A exon_variant ESAD-UK 4 186508891 186508891 single base substitution C T intron_variant ESAD-UK 4 186510294 186510294 single base substitution G A downstream_gene_variant ESAD-UK 4 186510294 186510294 single base substitution G A intron_variant ESAD-UK 4 186511981 186511981 single base substitution T G downstream_gene_variant ESAD-UK 4 186511981 186511981 single base substitution T G intron_variant ESAD-UK 4 186511981 186511981 single base substitution T G upstream_gene_variant ESAD-UK 4 186515204 186515204 single base substitution C A intron_variant ESAD-UK 4 186515204 186515204 single base substitution C A upstream_gene_variant ESAD-UK 4 186518933 186518933 single base substitution A C intron_variant ESAD-UK 4 186519094 186519094 single base substitution C A intron_variant ESAD-UK 4 186519122 186519122 single base substitution A G intron_variant ESAD-UK 4 186519643 186519643 single base substitution T C intron_variant ESAD-UK 4 186521710 186521710 single base substitution C T intron_variant ESAD-UK 4 186522498 186522498 single base substitution C T intron_variant ESAD-UK 4 186523604 186523604 single base substitution A G downstream_gene_variant ESAD-UK 4 186523604 186523604 single base substitution A G intron_variant ESAD-UK 4 186523699 186523699 single base substitution T G downstream_gene_variant ESAD-UK 4 186523699 186523699 single base substitution T G intron_variant ESAD-UK 4 186524447 186524447 single base substitution C T downstream_gene_variant ESAD-UK 4 186524447 186524447 single base substitution C T intron_variant ESAD-UK 4 186526017 186526017 single base substitution C T downstream_gene_variant ESAD-UK 4 186526017 186526017 single base substitution C T intron_variant ESAD-UK 4 186528785 186528785 single base substitution A T intron_variant ESAD-UK 4 186529134 186529134 single base substitution C T intron_variant ESAD-UK 4 186531034 186531034 insertion of <=200bp - T downstream_gene_variant ESAD-UK 4 186531034 186531034 insertion of <=200bp - T intron_variant ESAD-UK 4 186531652 186531652 single base substitution G A downstream_gene_variant ESAD-UK 4 186531652 186531652 single base substitution G A intron_variant ESAD-UK 4 186534483 186534483 insertion of <=200bp - CA downstream_gene_variant ESAD-UK 4 186534483 186534483 insertion of <=200bp - CA intron_variant ESAD-UK 4 186535659 186535659 single base substitution T A downstream_gene_variant ESAD-UK 4 186535659 186535659 single base substitution T A intron_variant ESAD-UK 4 186536613 186536613 single base substitution T G downstream_gene_variant ESAD-UK 4 186536613 186536613 single base substitution T G intron_variant ESAD-UK 4 186536613 186536613 single base substitution T G upstream_gene_variant ESAD-UK 4 186541089 186541089 single base substitution G A downstream_gene_variant ESAD-UK 4 186541089 186541089 single base substitution G A intron_variant ESAD-UK 4 186541089 186541089 single base substitution G A upstream_gene_variant ESAD-UK 4 186542289 186542289 single base substitution G C downstream_gene_variant ESAD-UK 4 186542289 186542289 single base substitution G C intron_variant ESAD-UK 4 186551129 186551129 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 186551129 186551129 deletion of <=200bp T - intron_variant ESAD-UK 4 186551129 186551129 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 186551129 186551129 insertion of <=200bp - T downstream_gene_variant ESAD-UK 4 186551129 186551129 insertion of <=200bp - T intron_variant ESAD-UK 4 186551129 186551129 insertion of <=200bp - T upstream_gene_variant ESAD-UK 4 186552058 186552058 single base substitution C A intron_variant ESAD-UK 4 186552058 186552058 single base substitution C A upstream_gene_variant ESAD-UK 4 186552100 186552100 single base substitution G A intron_variant ESAD-UK 4 186552100 186552100 single base substitution G A upstream_gene_variant ESAD-UK 4 186553857 186553857 single base substitution G C intron_variant ESAD-UK 4 186554238 186554238 single base substitution T C intron_variant ESAD-UK 4 186557906 186557906 single base substitution G A downstream_gene_variant ESAD-UK 4 186557906 186557906 single base substitution G A intron_variant ESAD-UK 4 186558813 186558813 deletion of <=200bp G - downstream_gene_variant ESAD-UK 4 186558813 186558813 deletion of <=200bp G - intron_variant ESAD-UK 4 186563558 186563558 single base substitution A T downstream_gene_variant ESAD-UK 4 186563558 186563558 single base substitution A T intron_variant ESAD-UK 4 186563570 186563570 single base substitution A T downstream_gene_variant ESAD-UK 4 186563570 186563570 single base substitution A T intron_variant ESAD-UK 4 186565020 186565020 single base substitution G A downstream_gene_variant ESAD-UK 4 186565020 186565020 single base substitution G A intron_variant ESAD-UK 4 186565123 186565123 single base substitution C T downstream_gene_variant ESAD-UK 4 186565123 186565123 single base substitution C T intron_variant ESAD-UK 4 186567311 186567311 single base substitution T G downstream_gene_variant ESAD-UK 4 186567311 186567311 single base substitution T G intron_variant ESAD-UK 4 186567370 186567370 single base substitution G A downstream_gene_variant ESAD-UK 4 186567370 186567370 single base substitution G A exon_variant ESAD-UK 4 186567370 186567370 single base substitution G A intron_variant ESAD-UK 4 186569086 186569086 single base substitution G A downstream_gene_variant ESAD-UK 4 186569086 186569086 single base substitution G A intron_variant ESAD-UK 4 186570022 186570022 single base substitution C T downstream_gene_variant ESAD-UK 4 186570022 186570022 single base substitution C T intron_variant ESAD-UK 4 186570570 186570570 single base substitution T G downstream_gene_variant ESAD-UK 4 186570570 186570570 single base substitution T G intron_variant ESAD-UK 4 186576364 186576364 single base substitution T C downstream_gene_variant ESAD-UK 4 186576364 186576364 single base substitution T C intron_variant ESAD-UK 4 186576364 186576364 single base substitution T C upstream_gene_variant ESAD-UK 4 186578602 186578602 single base substitution G A downstream_gene_variant ESAD-UK 4 186578602 186578602 single base substitution G A exon_variant ESAD-UK 4 186578602 186578602 single base substitution G A synonymous_variant S127S 381C>T ESAD-UK 4 186578602 186578602 single base substitution G A synonymous_variant S150S 450C>T ESAD-UK 4 186578602 186578602 single base substitution G A synonymous_variant S167S 501C>T ESAD-UK 4 186578602 186578602 single base substitution G A synonymous_variant S181S 543C>T ESAD-UK 4 186578602 186578602 single base substitution G A synonymous_variant S24S 72C>T ESAD-UK 4 186578602 186578602 single base substitution G A synonymous_variant S260S 780C>T ESAD-UK 4 186578602 186578602 single base substitution G A synonymous_variant S81S 243C>T ESAD-UK 4 186578602 186578602 single base substitution G A upstream_gene_variant ESAD-UK 4 186579515 186579515 single base substitution C T downstream_gene_variant ESAD-UK 4 186579515 186579515 single base substitution C T intron_variant ESAD-UK 4 186579515 186579515 single base substitution C T upstream_gene_variant ESAD-UK 4 186579569 186579569 single base substitution A T downstream_gene_variant ESAD-UK 4 186579569 186579569 single base substitution A T intron_variant ESAD-UK 4 186579569 186579569 single base substitution A T upstream_gene_variant ESAD-UK 4 186580855 186580855 single base substitution G A downstream_gene_variant ESAD-UK 4 186580855 186580855 single base substitution G A intron_variant ESAD-UK 4 186580855 186580855 single base substitution G A upstream_gene_variant ESAD-UK 4 186580896 186580896 single base substitution C T downstream_gene_variant ESAD-UK 4 186580896 186580896 single base substitution C T intron_variant ESAD-UK 4 186580896 186580896 single base substitution C T upstream_gene_variant ESAD-UK 4 186590883 186590883 single base substitution G A intron_variant ESAD-UK 4 186591379 186591379 single base substitution A T intron_variant ESAD-UK 4 186591430 186591430 single base substitution T C intron_variant ESAD-UK 4 186592739 186592739 deletion of <=200bp A - intron_variant ESAD-UK 4 186593500 186593500 single base substitution C T intron_variant ESAD-UK 4 186594660 186594660 single base substitution C G downstream_gene_variant ESAD-UK 4 186594660 186594660 single base substitution C G intron_variant ESAD-UK 4 186595483 186595483 single base substitution T C downstream_gene_variant ESAD-UK 4 186595483 186595483 single base substitution T C intron_variant ESAD-UK 4 186599122 186599122 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 4 186599122 186599122 insertion of <=200bp - AT intron_variant ESAD-UK 4 186600322 186600322 single base substitution G A intron_variant ESAD-UK 4 186604523 186604523 single base substitution G A downstream_gene_variant ESAD-UK 4 186604523 186604523 single base substitution G A intron_variant ESAD-UK 4 186608536 186608536 single base substitution C T intron_variant ESAD-UK 4 186613783 186613783 single base substitution T C intron_variant ESAD-UK 4 186613783 186613783 single base substitution T C upstream_gene_variant ESAD-UK 4 186617949 186617949 single base substitution C T intron_variant ESAD-UK 4 186620017 186620017 insertion of <=200bp - T intron_variant ESAD-UK 4 186622295 186622295 single base substitution C A intron_variant ESAD-UK 4 186623688 186623688 single base substitution A T intron_variant ESAD-UK 4 186627203 186627203 single base substitution G A intron_variant ESAD-UK 4 186627289 186627289 single base substitution C T intron_variant ESAD-UK 4 186628376 186628378 deletion of <=200bp AAA - intron_variant ESAD-UK 4 186629005 186629005 single base substitution G A intron_variant ESAD-UK 4 186630566 186630566 single base substitution C T intron_variant ESAD-UK 4 186634018 186634018 single base substitution G A intron_variant ESAD-UK 4 186635568 186635568 single base substitution A G intron_variant ESAD-UK 4 186636062 186636062 single base substitution T C intron_variant ESAD-UK 4 186637494 186637494 single base substitution T C intron_variant ESAD-UK 4 186637753 186637753 deletion of <=200bp T - intron_variant ESAD-UK 4 186643272 186643272 single base substitution C G intron_variant ESAD-UK 4 186646114 186646114 single base substitution C G intron_variant ESAD-UK 4 186648422 186648422 single base substitution C T intron_variant ESAD-UK 4 186649289 186649289 single base substitution G T intron_variant ESAD-UK 4 186651143 186651143 single base substitution A G intron_variant ESAD-UK 4 186651279 186651279 single base substitution T G intron_variant ESAD-UK 4 186656778 186656778 single base substitution C T intron_variant ESAD-UK 4 186658094 186658094 single base substitution C T intron_variant ESAD-UK 4 186660036 186660036 single base substitution A T intron_variant ESAD-UK 4 186668184 186668184 single base substitution C T intron_variant ESAD-UK 4 186668833 186668833 single base substitution G T intron_variant ESAD-UK 4 186670250 186670250 single base substitution C G intron_variant ESAD-UK 4 186671389 186671389 single base substitution G A intron_variant ESAD-UK 4 186672710 186672710 single base substitution G T intron_variant ESAD-UK 4 186673574 186673574 single base substitution C T downstream_gene_variant ESAD-UK 4 186673574 186673574 single base substitution C T intron_variant ESAD-UK 4 186674446 186674446 single base substitution T C downstream_gene_variant ESAD-UK 4 186674446 186674446 single base substitution T C intron_variant ESAD-UK 4 186675893 186675893 single base substitution C T downstream_gene_variant ESAD-UK 4 186675893 186675893 single base substitution C T intron_variant ESAD-UK 4 186676294 186676294 single base substitution C T downstream_gene_variant ESAD-UK 4 186676294 186676294 single base substitution C T intron_variant ESAD-UK 4 186678995 186678995 single base substitution G T intron_variant ESAD-UK 4 186680267 186680267 single base substitution G A intron_variant ESAD-UK 4 186681157 186681157 single base substitution C A intron_variant ESAD-UK 4 186683428 186683428 single base substitution T A intron_variant ESAD-UK 4 186683428 186683428 single base substitution T A upstream_gene_variant ESAD-UK 4 186683730 186683730 single base substitution C T intron_variant ESAD-UK 4 186683730 186683730 single base substitution C T upstream_gene_variant ESAD-UK 4 186683754 186683754 single base substitution C A intron_variant ESAD-UK 4 186683754 186683754 single base substitution C A upstream_gene_variant ESAD-UK 4 186684504 186684504 single base substitution G A intron_variant ESAD-UK 4 186684504 186684504 single base substitution G A upstream_gene_variant ESAD-UK 4 186686623 186686623 single base substitution C T intron_variant ESAD-UK 4 186686623 186686623 single base substitution C T upstream_gene_variant ESAD-UK 4 186686650 186686650 single base substitution C T intron_variant ESAD-UK 4 186686650 186686650 single base substitution C T upstream_gene_variant ESAD-UK 4 186686735 186686735 single base substitution A C intron_variant ESAD-UK 4 186686735 186686735 single base substitution A C upstream_gene_variant ESAD-UK 4 186691449 186691449 single base substitution T C downstream_gene_variant ESAD-UK 4 186691449 186691449 single base substitution T C intron_variant ESAD-UK 4 186693808 186693808 single base substitution C T downstream_gene_variant ESAD-UK 4 186693808 186693808 single base substitution C T exon_variant ESAD-UK 4 186693808 186693808 single base substitution C T intron_variant ESAD-UK 4 186694215 186694215 insertion of <=200bp - C downstream_gene_variant ESAD-UK 4 186694215 186694215 insertion of <=200bp - C exon_variant ESAD-UK 4 186694215 186694215 insertion of <=200bp - C intron_variant ESAD-UK 4 186695093 186695093 single base substitution C G downstream_gene_variant ESAD-UK 4 186695093 186695093 single base substitution C G exon_variant ESAD-UK 4 186695093 186695093 single base substitution C G intron_variant ESAD-UK 4 186695574 186695574 deletion of <=200bp A - downstream_gene_variant ESAD-UK 4 186695574 186695574 deletion of <=200bp A - exon_variant ESAD-UK 4 186695574 186695574 deletion of <=200bp A - intron_variant ESAD-UK 4 186697476 186697476 single base substitution G C intron_variant ESAD-UK 4 186697476 186697476 single base substitution G C upstream_gene_variant ESAD-UK 4 186699642 186699642 insertion of <=200bp - A intron_variant ESAD-UK 4 186699642 186699642 insertion of <=200bp - A upstream_gene_variant ESAD-UK 4 186703663 186703663 single base substitution A T intron_variant ESAD-UK 4 186708266 186708266 single base substitution T C intron_variant ESAD-UK 4 186709603 186709603 single base substitution A C intron_variant ESAD-UK 4 186709884 186709884 single base substitution G A intron_variant ESAD-UK 4 186710245 186710245 single base substitution C T intron_variant ESAD-UK 4 186711742 186711742 single base substitution A G intron_variant ESAD-UK 4 186712181 186712181 single base substitution T C intron_variant ESAD-UK 4 186712882 186712882 single base substitution T C intron_variant ESAD-UK 4 186714524 186714524 single base substitution G A intron_variant ESAD-UK 4 186715045 186715045 single base substitution G A intron_variant ESAD-UK 4 186715415 186715415 single base substitution T C intron_variant ESAD-UK 4 186717367 186717367 single base substitution G A intron_variant ESAD-UK 4 186718573 186718573 single base substitution T A intron_variant ESAD-UK 4 186720340 186720340 single base substitution A C intron_variant ESAD-UK 4 186720546 186720546 single base substitution C A intron_variant ESAD-UK 4 186724644 186724644 single base substitution C A intron_variant ESAD-UK 4 186725198 186725198 single base substitution G A intron_variant ESAD-UK 4 186728823 186728823 single base substitution G A intron_variant ESAD-UK 4 186730219 186730219 deletion of <=200bp G - intron_variant ESAD-UK 4 186732976 186732976 single base substitution G T 5_prime_UTR_variant ESAD-UK 4 186732976 186732976 single base substitution G T exon_variant ESAD-UK 4 186732976 186732976 single base substitution G T intron_variant ESAD-UK 4 186732976 186732976 single base substitution G T upstream_gene_variant ESAD-UK 4 186734417 186734417 single base substitution C A intron_variant ESAD-UK 4 186734417 186734417 single base substitution C A upstream_gene_variant ESAD-UK 4 186735810 186735810 single base substitution C A intron_variant ESAD-UK 4 186735810 186735810 single base substitution C A upstream_gene_variant ESAD-UK 4 186736741 186736741 single base substitution C T intron_variant ESAD-UK 4 186736741 186736741 single base substitution C T upstream_gene_variant ESAD-UK 4 186737159 186737159 single base substitution A C intron_variant ESAD-UK 4 186737159 186737159 single base substitution A C upstream_gene_variant ESAD-UK 4 186739605 186739605 single base substitution A C intron_variant ESAD-UK 4 186740661 186740661 single base substitution C T intron_variant ESAD-UK 4 186742130 186742130 single base substitution G T intron_variant ESAD-UK 4 186744216 186744216 single base substitution A T intron_variant ESAD-UK 4 186746958 186746958 single base substitution A T intron_variant ESAD-UK 4 186747940 186747940 single base substitution A T intron_variant ESAD-UK 4 186761848 186761848 single base substitution G A intron_variant ESAD-UK 4 186763082 186763082 single base substitution C T intron_variant ESAD-UK 4 186764783 186764783 single base substitution A C intron_variant ESAD-UK 4 186765584 186765584 single base substitution G A intron_variant ESAD-UK 4 186770956 186770956 single base substitution C T intron_variant ESAD-UK 4 186771001 186771001 single base substitution G C intron_variant ESAD-UK 4 186774628 186774628 single base substitution G A intron_variant ESAD-UK 4 186775502 186775502 single base substitution T G intron_variant ESAD-UK 4 186776990 186776990 single base substitution A C intron_variant ESAD-UK 4 186779881 186779881 single base substitution C T intron_variant ESAD-UK 4 186782571 186782571 single base substitution A C intron_variant ESAD-UK 4 186783042 186783042 single base substitution C T intron_variant ESAD-UK 4 186784014 186784014 single base substitution T C intron_variant ESAD-UK 4 186784322 186784322 single base substitution G A intron_variant ESAD-UK 4 186785770 186785770 single base substitution T G intron_variant ESAD-UK 4 186786108 186786108 single base substitution G T intron_variant ESAD-UK 4 186786297 186786297 single base substitution T G intron_variant ESAD-UK 4 186787423 186787423 single base substitution G A intron_variant ESAD-UK 4 186791304 186791304 single base substitution T G intron_variant ESAD-UK 4 186791567 186791567 single base substitution G A intron_variant ESAD-UK 4 186791749 186791749 single base substitution C T intron_variant ESAD-UK 4 186792342 186792342 deletion of <=200bp T - intron_variant ESAD-UK 4 186794126 186794126 single base substitution C T intron_variant ESAD-UK 4 186794863 186794863 single base substitution C A intron_variant ESAD-UK 4 186795518 186795518 single base substitution C T intron_variant ESAD-UK 4 186798477 186798477 deletion of <=200bp A - intron_variant ESAD-UK 4 186799645 186799645 single base substitution G A intron_variant ESAD-UK 4 186802741 186802741 single base substitution T G intron_variant ESAD-UK 4 186806181 186806181 single base substitution T G intron_variant ESAD-UK 4 186807962 186807962 single base substitution C A intron_variant ESAD-UK 4 186810957 186810957 single base substitution T G intron_variant ESAD-UK 4 186811486 186811486 single base substitution C T intron_variant ESAD-UK 4 186812311 186812311 insertion of <=200bp - T intron_variant ESAD-UK 4 186815246 186815246 single base substitution G T intron_variant ESAD-UK 4 186817042 186817042 single base substitution A C intron_variant ESAD-UK 4 186818959 186818959 single base substitution G A intron_variant ESAD-UK 4 186821047 186821047 single base substitution A G intron_variant ESAD-UK 4 186821747 186821747 single base substitution G T intron_variant ESAD-UK 4 186821754 186821754 deletion of <=200bp A - intron_variant ESAD-UK 4 186821946 186821946 insertion of <=200bp - AG intron_variant ESAD-UK 4 186821983 186821983 single base substitution C G intron_variant ESAD-UK 4 186822657 186822657 single base substitution C A intron_variant ESAD-UK 4 186825539 186825539 single base substitution G A intron_variant ESAD-UK 4 186825998 186825998 single base substitution C A intron_variant ESAD-UK 4 186831646 186831646 single base substitution C A intron_variant ESAD-UK 4 186832113 186832113 single base substitution T A intron_variant ESAD-UK 4 186832115 186832115 single base substitution A T intron_variant ESAD-UK 4 186832831 186832831 single base substitution C T intron_variant ESAD-UK 4 186837776 186837776 single base substitution C A intron_variant ESAD-UK 4 186838390 186838390 single base substitution C G intron_variant ESAD-UK 4 186840637 186840637 single base substitution T C intron_variant ESAD-UK 4 186845686 186845686 single base substitution G A intron_variant ESAD-UK 4 186846104 186846104 single base substitution G A intron_variant ESAD-UK 4 186848422 186848422 deletion of <=200bp T - intron_variant ESAD-UK 4 186849326 186849326 single base substitution A C intron_variant ESAD-UK 4 186849381 186849381 single base substitution G A intron_variant ESAD-UK 4 186849710 186849710 insertion of <=200bp - T intron_variant ESAD-UK 4 186851072 186851072 single base substitution T G intron_variant ESAD-UK 4 186852305 186852305 single base substitution T G intron_variant ESAD-UK 4 186852491 186852491 single base substitution T C intron_variant ESAD-UK 4 186854784 186854784 single base substitution G A intron_variant ESAD-UK 4 186854784 186854784 single base substitution G A upstream_gene_variant ESAD-UK 4 186855014 186855014 single base substitution G T intron_variant ESAD-UK 4 186855014 186855014 single base substitution G T upstream_gene_variant ESAD-UK 4 186856277 186856277 single base substitution A G intron_variant ESAD-UK 4 186856277 186856277 single base substitution A G upstream_gene_variant ESAD-UK 4 186856829 186856829 deletion of <=200bp A - intron_variant ESAD-UK 4 186856829 186856829 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 186857124 186857124 single base substitution G A intron_variant ESAD-UK 4 186857124 186857124 single base substitution G A upstream_gene_variant ESAD-UK 4 186857629 186857629 single base substitution G A intron_variant ESAD-UK 4 186857629 186857629 single base substitution G A upstream_gene_variant ESAD-UK 4 186857694 186857694 single base substitution G C intron_variant ESAD-UK 4 186857694 186857694 single base substitution G C upstream_gene_variant ESAD-UK 4 186858310 186858310 single base substitution C A intron_variant ESAD-UK 4 186858310 186858310 single base substitution C A upstream_gene_variant ESAD-UK 4 186858504 186858504 single base substitution G C intron_variant ESAD-UK 4 186858504 186858504 single base substitution G C upstream_gene_variant ESAD-UK 4 186858675 186858675 single base substitution T G intron_variant ESAD-UK 4 186858675 186858675 single base substitution T G upstream_gene_variant ESAD-UK 4 186859625 186859625 single base substitution A C intron_variant ESAD-UK 4 186860733 186860733 single base substitution C T intron_variant ESAD-UK 4 186860781 186860781 single base substitution C T intron_variant ESAD-UK 4 186860956 186860956 single base substitution G A intron_variant ESAD-UK 4 186862428 186862428 single base substitution G A intron_variant ESAD-UK 4 186862604 186862604 single base substitution T G intron_variant ESAD-UK 4 186863080 186863080 single base substitution G A intron_variant ESAD-UK 4 186863273 186863273 deletion of <=200bp C - intron_variant ESAD-UK 4 186865348 186865348 single base substitution T A intron_variant ESAD-UK 4 186865851 186865851 single base substitution G T intron_variant ESAD-UK 4 186867412 186867412 single base substitution G A intron_variant ESAD-UK 4 186868034 186868034 single base substitution C A intron_variant ESAD-UK 4 186868636 186868636 single base substitution G A intron_variant ESAD-UK 4 186871902 186871902 single base substitution C T intron_variant ESAD-UK 4 186873970 186873970 single base substitution C T intron_variant ESAD-UK 4 186874163 186874163 single base substitution G A intron_variant ESAD-UK 4 186876097 186876097 single base substitution A C intron_variant ESAD-UK 4 186876106 186876106 single base substitution C G intron_variant ESAD-UK 4 186877000 186877000 single base substitution C T intron_variant ESAD-UK 4 186877488 186877488 single base substitution C T 5_prime_UTR_variant ESAD-UK 4 186877488 186877488 single base substitution C T exon_variant ESAD-UK 4 186878725 186878725 single base substitution C T upstream_gene_variant ESAD-UK 4 186878992 186878992 single base substitution A G upstream_gene_variant ESAD-UK 4 186879444 186879444 single base substitution C A upstream_gene_variant ESAD-UK 4 186880934 186880934 single base substitution G T upstream_gene_variant ESAD-UK 4 186881869 186881869 single base substitution C T upstream_gene_variant ESAD-UK 4 186882513 186882513 single base substitution G T upstream_gene_variant ESCA-CN 4 186507361 186507361 single base substitution A C 3_prime_UTR_variant ESCA-CN 4 186507361 186507361 single base substitution A C downstream_gene_variant ESCA-CN 4 186544076 186544076 insertion of <=200bp - CA downstream_gene_variant ESCA-CN 4 186544076 186544076 insertion of <=200bp - CA frameshift_variant A736A? ESCA-CN 4 186544076 186544076 insertion of <=200bp - CA frameshift_variant A832A? ESCA-CN 4 186544076 186544076 insertion of <=200bp - CA frameshift_variant A932A? ESCA-CN 4 186544076 186544076 insertion of <=200bp - CA intron_variant ESCA-CN 4 186544768 186544768 single base substitution G A downstream_gene_variant ESCA-CN 4 186544768 186544768 single base substitution G A intron_variant ESCA-CN 4 186544768 186544768 single base substitution G A synonymous_variant D505D 1515C>T ESCA-CN 4 186544768 186544768 single base substitution G A synonymous_variant D601D 1803C>T ESCA-CN 4 186544768 186544768 single base substitution G A synonymous_variant D701D 2103C>T ESCA-CN 4 186567884 186567884 single base substitution C G exon_variant ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E105Q 313G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E112Q 334G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E151Q 451G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E208Q 622G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E254Q 760G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E277Q 829G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E279Q 835G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E294Q 880G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E308Q 922G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E387Q 1159G>C ESCA-CN 4 186567884 186567884 single base substitution C G missense_variant E65Q 193G>C GACA-CN 4 186578579 186578579 single base substitution G A downstream_gene_variant GACA-CN 4 186578579 186578579 single base substitution G A missense_variant T135M 404C>T GACA-CN 4 186578579 186578579 single base substitution G A missense_variant T158M 473C>T GACA-CN 4 186578579 186578579 single base substitution G A missense_variant T175M 524C>T GACA-CN 4 186578579 186578579 single base substitution G A missense_variant T189M 566C>T GACA-CN 4 186578579 186578579 single base substitution G A missense_variant T268M 803C>T GACA-CN 4 186578579 186578579 single base substitution G A missense_variant T32M 95C>T GACA-CN 4 186578579 186578579 single base substitution G A missense_variant T89M 266C>T GACA-CN 4 186578579 186578579 single base substitution G A splice_region_variant GACA-CN 4 186578579 186578579 single base substitution G A upstream_gene_variant GBM-US 4 186545046 186545046 single base substitution G A downstream_gene_variant GBM-US 4 186545046 186545046 single base substitution G A intron_variant GBM-US 4 186545046 186545046 single base substitution G A missense_variant R413C 1237C>T GBM-US 4 186545046 186545046 single base substitution G A missense_variant R509C 1525C>T GBM-US 4 186545046 186545046 single base substitution G A missense_variant R609C 1825C>T GBM-US 4 186545050 186545050 single base substitution G A downstream_gene_variant GBM-US 4 186545050 186545050 single base substitution G A intron_variant GBM-US 4 186545050 186545050 single base substitution G A synonymous_variant P411P 1233C>T GBM-US 4 186545050 186545050 single base substitution G A synonymous_variant P507P 1521C>T GBM-US 4 186545050 186545050 single base substitution G A synonymous_variant P607P 1821C>T KIRC-US 4 186508841 186508841 single base substitution C T splice_region_variant KIRC-US 4 186545257 186545257 single base substitution G C downstream_gene_variant KIRC-US 4 186545257 186545257 single base substitution G C intron_variant KIRC-US 4 186545257 186545257 single base substitution G C missense_variant I342M 1026C>G KIRC-US 4 186545257 186545257 single base substitution G C missense_variant I438M 1314C>G KIRC-US 4 186545257 186545257 single base substitution G C missense_variant I538M 1614C>G KIRC-US 4 186548090 186548090 single base substitution C T downstream_gene_variant KIRC-US 4 186548090 186548090 single base substitution C T exon_variant KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S149N 446G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S177N 530G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S216N 647G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S218N 653G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S273N 818G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S344N 1031G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S361N 1082G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S366N 1097G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S373N 1118G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S391N 1172G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S431N 1292G>A KIRC-US 4 186548090 186548090 single base substitution C T missense_variant S524N 1571G>A KIRC-US 4 186548090 186548090 single base substitution C T upstream_gene_variant KIRP-US 4 186545113 186545113 single base substitution G A downstream_gene_variant KIRP-US 4 186545113 186545113 single base substitution G A intron_variant KIRP-US 4 186545113 186545113 single base substitution G A synonymous_variant H390H 1170C>T KIRP-US 4 186545113 186545113 single base substitution G A synonymous_variant H486H 1458C>T KIRP-US 4 186545113 186545113 single base substitution G A synonymous_variant H586H 1758C>T KIRP-US 4 186545114 186545114 single base substitution T G downstream_gene_variant KIRP-US 4 186545114 186545114 single base substitution T G intron_variant KIRP-US 4 186545114 186545114 single base substitution T G missense_variant H390P 1169A>C KIRP-US 4 186545114 186545114 single base substitution T G missense_variant H486P 1457A>C KIRP-US 4 186545114 186545114 single base substitution T G missense_variant H586P 1757A>C KIRP-US 4 186545386 186545386 single base substitution G T downstream_gene_variant KIRP-US 4 186545386 186545386 single base substitution G T intron_variant KIRP-US 4 186545386 186545386 single base substitution G T missense_variant F299L 897C>A KIRP-US 4 186545386 186545386 single base substitution G T missense_variant F395L 1185C>A KIRP-US 4 186545386 186545386 single base substitution G T missense_variant F495L 1485C>A LAML-KR 4 186568073 186568073 single base substitution G A intron_variant LAML-KR 4 186570240 186570240 single base substitution C G downstream_gene_variant LAML-KR 4 186570240 186570240 single base substitution C G intron_variant LAML-KR 4 186652646 186652646 single base substitution G A intron_variant LAML-KR 4 186717824 186717824 single base substitution G A intron_variant LAML-KR 4 186766186 186766186 single base substitution G T intron_variant LAML-KR 4 186782767 186782767 single base substitution C T intron_variant LAML-KR 4 186797272 186797272 single base substitution G T intron_variant LAML-KR 4 186807728 186807728 single base substitution G A intron_variant LAML-KR 4 186812119 186812119 single base substitution C T intron_variant LICA-CN 4 186544236 186544236 single base substitution T A downstream_gene_variant LICA-CN 4 186544236 186544236 single base substitution T A intron_variant LICA-CN 4 186544236 186544236 single base substitution T A missense_variant R683W 2047A>T LICA-CN 4 186544236 186544236 single base substitution T A missense_variant R779W 2335A>T LICA-CN 4 186544236 186544236 single base substitution T A missense_variant R879W 2635A>T LICA-CN 4 186544623 186544623 single base substitution G A downstream_gene_variant LICA-CN 4 186544623 186544623 single base substitution G A intron_variant LICA-CN 4 186544623 186544623 single base substitution G A missense_variant H554Y 1660C>T LICA-CN 4 186544623 186544623 single base substitution G A missense_variant H650Y 1948C>T LICA-CN 4 186544623 186544623 single base substitution G A missense_variant H750Y 2248C>T LICA-CN 4 186544875 186544875 single base substitution G C downstream_gene_variant LICA-CN 4 186544875 186544875 single base substitution G C intron_variant LICA-CN 4 186544875 186544875 single base substitution G C missense_variant R470G 1408C>G LICA-CN 4 186544875 186544875 single base substitution G C missense_variant R566G 1696C>G LICA-CN 4 186544875 186544875 single base substitution G C missense_variant R666G 1996C>G LICA-CN 4 186583265 186583265 single base substitution T A downstream_gene_variant LICA-CN 4 186583265 186583265 single base substitution T A exon_variant LICA-CN 4 186583265 186583265 single base substitution T A synonymous_variant T115T 345A>T LICA-CN 4 186583265 186583265 single base substitution T A synonymous_variant T129T 387A>T LICA-CN 4 186583265 186583265 single base substitution T A synonymous_variant T208T 624A>T LICA-CN 4 186583265 186583265 single base substitution T A synonymous_variant T29T 87A>T LICA-CN 4 186583265 186583265 single base substitution T A synonymous_variant T75T 225A>T LICA-CN 4 186583265 186583265 single base substitution T A synonymous_variant T92T 276A>T LICA-CN 4 186583265 186583265 single base substitution T A synonymous_variant T98T 294A>T LICA-CN 4 186583265 186583265 single base substitution T A upstream_gene_variant LICA-FR 4 186505893 186505893 single base substitution C T downstream_gene_variant LICA-FR 4 186508339 186508339 single base substitution A G 3_prime_UTR_variant LICA-FR 4 186508339 186508339 single base substitution A G downstream_gene_variant LICA-FR 4 186511132 186511132 single base substitution T C downstream_gene_variant LICA-FR 4 186511132 186511132 single base substitution T C intron_variant LICA-FR 4 186511132 186511132 single base substitution T C upstream_gene_variant LICA-FR 4 186532262 186532262 single base substitution T C downstream_gene_variant LICA-FR 4 186532262 186532262 single base substitution T C intron_variant LICA-FR 4 186544728 186544728 single base substitution C T downstream_gene_variant LICA-FR 4 186544728 186544728 single base substitution C T intron_variant LICA-FR 4 186544728 186544728 single base substitution C T missense_variant G519R 1555G>A LICA-FR 4 186544728 186544728 single base substitution C T missense_variant G615R 1843G>A LICA-FR 4 186544728 186544728 single base substitution C T missense_variant G715R 2143G>A LICA-FR 4 186544985 186544985 single base substitution T C downstream_gene_variant LICA-FR 4 186544985 186544985 single base substitution T C intron_variant LICA-FR 4 186544985 186544985 single base substitution T C missense_variant D433G 1298A>G LICA-FR 4 186544985 186544985 single base substitution T C missense_variant D529G 1586A>G LICA-FR 4 186544985 186544985 single base substitution T C missense_variant D629G 1886A>G LICA-FR 4 186548093 186548093 single base substitution T C downstream_gene_variant LICA-FR 4 186548093 186548093 single base substitution T C exon_variant LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q148R 443A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q176R 527A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q215R 644A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q217R 650A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q272R 815A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q343R 1028A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q360R 1079A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q365R 1094A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q372R 1115A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q390R 1169A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q430R 1289A>G LICA-FR 4 186548093 186548093 single base substitution T C missense_variant Q523R 1568A>G LICA-FR 4 186548093 186548093 single base substitution T C upstream_gene_variant LICA-FR 4 186548528 186548528 single base substitution T A downstream_gene_variant LICA-FR 4 186548528 186548528 single base substitution T A intron_variant LICA-FR 4 186548528 186548528 single base substitution T A upstream_gene_variant LICA-FR 4 186549362 186549362 single base substitution T C downstream_gene_variant LICA-FR 4 186549362 186549362 single base substitution T C intron_variant LICA-FR 4 186549362 186549362 single base substitution T C upstream_gene_variant LICA-FR 4 186574479 186574479 single base substitution T C downstream_gene_variant LICA-FR 4 186574479 186574479 single base substitution T C intron_variant LICA-FR 4 186574479 186574479 single base substitution T C upstream_gene_variant LICA-FR 4 186586547 186586547 single base substitution T G downstream_gene_variant LICA-FR 4 186586547 186586547 single base substitution T G intron_variant LICA-FR 4 186590169 186590169 single base substitution T G intron_variant LICA-FR 4 186652816 186652816 single base substitution A C intron_variant LICA-FR 4 186655556 186655556 single base substitution A C intron_variant LICA-FR 4 186658315 186658315 single base substitution C T intron_variant LICA-FR 4 186662547 186662547 single base substitution C T intron_variant LICA-FR 4 186662547 186662547 single base substitution C T upstream_gene_variant LICA-FR 4 186678678 186678678 single base substitution A G intron_variant LICA-FR 4 186687663 186687670 deletion of <=200bp ATATTCAC - downstream_gene_variant LICA-FR 4 186687663 186687670 deletion of <=200bp ATATTCAC - intron_variant LICA-FR 4 186687663 186687670 deletion of <=200bp ATATTCAC - upstream_gene_variant LICA-FR 4 186699418 186699418 single base substitution G A intron_variant LICA-FR 4 186699418 186699418 single base substitution G A upstream_gene_variant LICA-FR 4 186724470 186724470 insertion of <=200bp - A intron_variant LICA-FR 4 186727074 186727074 single base substitution A T intron_variant LICA-FR 4 186728874 186728874 single base substitution T C intron_variant LICA-FR 4 186748496 186748496 single base substitution T C intron_variant LICA-FR 4 186766652 186766652 single base substitution A G intron_variant LICA-FR 4 186792513 186792513 single base substitution G C intron_variant LICA-FR 4 186807728 186807728 single base substitution G A intron_variant LICA-FR 4 186811281 186811281 single base substitution T C intron_variant LICA-FR 4 186814728 186814728 single base substitution A T intron_variant LICA-FR 4 186818047 186818047 deletion of <=200bp A - intron_variant LICA-FR 4 186843284 186843284 single base substitution A G intron_variant LICA-FR 4 186847709 186847709 deletion of <=200bp G - intron_variant LICA-FR 4 186870949 186870949 single base substitution G T intron_variant LIHC-US 4 186533094 186533094 single base substitution C T downstream_gene_variant LIHC-US 4 186533094 186533094 single base substitution C T exon_variant LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W1075* 3224G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W519* 1556G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W536* 1607G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W541* 1622G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W566* 1697G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W606* 1817G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W699* 2096G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W879* 2636G>A LIHC-US 4 186533094 186533094 single base substitution C T stop_gained W975* 2924G>A LIHC-US 4 186544299 186544299 single base substitution G T downstream_gene_variant LIHC-US 4 186544299 186544299 single base substitution G T intron_variant LIHC-US 4 186544299 186544299 single base substitution G T missense_variant H662N 1984C>A LIHC-US 4 186544299 186544299 single base substitution G T missense_variant H758N 2272C>A LIHC-US 4 186544299 186544299 single base substitution G T missense_variant H858N 2572C>A LIHC-US 4 186598269 186598273 deletion of <=200bp TCCTG - downstream_gene_variant LIHC-US 4 186598269 186598273 deletion of <=200bp TCCTG - frameshift_variant QD124 LIHC-US 4 186598269 186598273 deletion of <=200bp TCCTG - intron_variant LINC-JP 4 186507353 186507353 single base substitution A C 3_prime_UTR_variant LINC-JP 4 186507353 186507353 single base substitution A C downstream_gene_variant LINC-JP 4 186510850 186510850 single base substitution T C downstream_gene_variant LINC-JP 4 186510850 186510850 single base substitution T C exon_variant LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D1075G 3224A>G LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D1175G 3524A>G LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D619G 1856A>G LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D636G 1907A>G LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D641G 1922A>G LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D706G 2117A>G LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D799G 2396A>G LINC-JP 4 186510850 186510850 single base substitution T C missense_variant D979G 2936A>G LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E1044* 3130G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E1144* 3430G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E588* 1762G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E605* 1813G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E610* 1828G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E635* 1903G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E675* 2023G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E768* 2302G>T LINC-JP 4 186515044 186515044 single base substitution C A stop_gained E948* 2842G>T LINC-JP 4 186515044 186515044 single base substitution C A upstream_gene_variant LINC-JP 4 186517672 186517672 single base substitution G A intron_variant LINC-JP 4 186517673 186517673 single base substitution C A intron_variant LINC-JP 4 186518673 186518673 single base substitution A C intron_variant LINC-JP 4 186525961 186525961 single base substitution C T downstream_gene_variant LINC-JP 4 186525961 186525961 single base substitution C T intron_variant LINC-JP 4 186526045 186526056 deletion of <=200bp AGCGTGTCACAA - downstream_gene_variant LINC-JP 4 186526045 186526056 deletion of <=200bp AGCGTGTCACAA - intron_variant LINC-JP 4 186529208 186529208 single base substitution A G intron_variant LINC-JP 4 186534182 186534182 single base substitution A C downstream_gene_variant LINC-JP 4 186534182 186534182 single base substitution A C intron_variant LINC-JP 4 186534421 186534421 single base substitution G C downstream_gene_variant LINC-JP 4 186534421 186534421 single base substitution G C intron_variant LINC-JP 4 186535313 186535313 single base substitution G T downstream_gene_variant LINC-JP 4 186535313 186535313 single base substitution G T intron_variant LINC-JP 4 186538264 186538264 single base substitution T C downstream_gene_variant LINC-JP 4 186538264 186538264 single base substitution T C intron_variant LINC-JP 4 186538264 186538264 single base substitution T C upstream_gene_variant LINC-JP 4 186539816 186539816 single base substitution T C intron_variant LINC-JP 4 186539816 186539816 single base substitution T C upstream_gene_variant LINC-JP 4 186539823 186539830 deletion of <=200bp TTTGAATT - intron_variant LINC-JP 4 186539823 186539830 deletion of <=200bp TTTGAATT - upstream_gene_variant LINC-JP 4 186539834 186539835 deletion of <=200bp TA - intron_variant LINC-JP 4 186539834 186539835 deletion of <=200bp TA - upstream_gene_variant LINC-JP 4 186540039 186540039 single base substitution G T intron_variant LINC-JP 4 186540039 186540039 single base substitution G T upstream_gene_variant LINC-JP 4 186544575 186544575 single base substitution T C downstream_gene_variant LINC-JP 4 186544575 186544575 single base substitution T C intron_variant LINC-JP 4 186544575 186544575 single base substitution T C missense_variant T570A 1708A>G LINC-JP 4 186544575 186544575 single base substitution T C missense_variant T666A 1996A>G LINC-JP 4 186544575 186544575 single base substitution T C missense_variant T766A 2296A>G LINC-JP 4 186544639 186544639 single base substitution A G downstream_gene_variant LINC-JP 4 186544639 186544639 single base substitution A G intron_variant LINC-JP 4 186544639 186544639 single base substitution A G synonymous_variant H548H 1644T>C LINC-JP 4 186544639 186544639 single base substitution A G synonymous_variant H644H 1932T>C LINC-JP 4 186544639 186544639 single base substitution A G synonymous_variant H744H 2232T>C LINC-JP 4 186544942 186544942 single base substitution T C downstream_gene_variant LINC-JP 4 186544942 186544942 single base substitution T C intron_variant LINC-JP 4 186544942 186544942 single base substitution T C synonymous_variant L447L 1341A>G LINC-JP 4 186544942 186544942 single base substitution T C synonymous_variant L543L 1629A>G LINC-JP 4 186544942 186544942 single base substitution T C synonymous_variant L643L 1929A>G LINC-JP 4 186546964 186546964 single base substitution T C downstream_gene_variant LINC-JP 4 186546964 186546964 single base substitution T C intron_variant LINC-JP 4 186554626 186554626 insertion of <=200bp - TT intron_variant LINC-JP 4 186558489 186558489 single base substitution T C downstream_gene_variant LINC-JP 4 186558489 186558489 single base substitution T C intron_variant LINC-JP 4 186559162 186559162 single base substitution T A downstream_gene_variant LINC-JP 4 186559162 186559162 single base substitution T A intron_variant LINC-JP 4 186562915 186562915 deletion of <=200bp A - downstream_gene_variant LINC-JP 4 186562915 186562915 deletion of <=200bp A - intron_variant LINC-JP 4 186566084 186566084 single base substitution C T downstream_gene_variant LINC-JP 4 186566084 186566084 single base substitution C T intron_variant LINC-JP 4 186567573 186567573 single base substitution A G downstream_gene_variant LINC-JP 4 186567573 186567573 single base substitution A G exon_variant LINC-JP 4 186567573 186567573 single base substitution A G intron_variant LINC-JP 4 186567590 186567590 single base substitution T A downstream_gene_variant LINC-JP 4 186567590 186567590 single base substitution T A exon_variant LINC-JP 4 186567590 186567590 single base substitution T A intron_variant LINC-JP 4 186575160 186575160 single base substitution C T downstream_gene_variant LINC-JP 4 186575160 186575160 single base substitution C T intron_variant LINC-JP 4 186575160 186575160 single base substitution C T upstream_gene_variant LINC-JP 4 186575969 186575969 single base substitution C T downstream_gene_variant LINC-JP 4 186575969 186575969 single base substitution C T intron_variant LINC-JP 4 186575969 186575969 single base substitution C T upstream_gene_variant LINC-JP 4 186577595 186577595 deletion of <=200bp T - downstream_gene_variant LINC-JP 4 186577595 186577595 deletion of <=200bp T - intron_variant LINC-JP 4 186577595 186577595 deletion of <=200bp T - upstream_gene_variant LINC-JP 4 186578920 186578920 single base substitution C T downstream_gene_variant LINC-JP 4 186578920 186578920 single base substitution C T intron_variant LINC-JP 4 186578920 186578920 single base substitution C T upstream_gene_variant LINC-JP 4 186582789 186582789 single base substitution T C downstream_gene_variant LINC-JP 4 186582789 186582789 single base substitution T C intron_variant LINC-JP 4 186582789 186582789 single base substitution T C upstream_gene_variant LINC-JP 4 186583406 186583406 single base substitution G A downstream_gene_variant LINC-JP 4 186583406 186583406 single base substitution G A intron_variant LINC-JP 4 186583406 186583406 single base substitution G A upstream_gene_variant LINC-JP 4 186587384 186587384 single base substitution A C intron_variant LINC-JP 4 186591133 186591133 single base substitution G A intron_variant LINC-JP 4 186598918 186598918 single base substitution C T downstream_gene_variant LINC-JP 4 186598918 186598918 single base substitution C T intron_variant LINC-JP 4 186600001 186600001 single base substitution T C intron_variant LINC-JP 4 186601293 186601293 single base substitution T C downstream_gene_variant LINC-JP 4 186601293 186601293 single base substitution T C intron_variant LINC-JP 4 186604184 186604184 single base substitution G A downstream_gene_variant LINC-JP 4 186604184 186604184 single base substitution G A intron_variant LINC-JP 4 186605976 186605976 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 4 186605976 186605976 single base substitution C T exon_variant LINC-JP 4 186605976 186605976 single base substitution C T intron_variant LINC-JP 4 186605976 186605976 single base substitution C T missense_variant R12H 35G>A LINC-JP 4 186609918 186609918 single base substitution T G intron_variant LINC-JP 4 186615565 186615565 single base substitution G A intron_variant LINC-JP 4 186615565 186615565 single base substitution G A upstream_gene_variant LINC-JP 4 186618172 186618172 single base substitution A G intron_variant LINC-JP 4 186627747 186627747 single base substitution T C intron_variant LINC-JP 4 186629555 186629555 single base substitution T C intron_variant LINC-JP 4 186650966 186650966 single base substitution G T intron_variant LINC-JP 4 186660910 186660910 single base substitution G A intron_variant LINC-JP 4 186668628 186668628 single base substitution T C intron_variant LINC-JP 4 186670623 186670623 single base substitution A C intron_variant LINC-JP 4 186670624 186670624 single base substitution C T intron_variant LINC-JP 4 186676565 186676565 single base substitution C T downstream_gene_variant LINC-JP 4 186676565 186676565 single base substitution C T intron_variant LINC-JP 4 186677182 186677182 single base substitution C A downstream_gene_variant LINC-JP 4 186677182 186677182 single base substitution C A intron_variant LINC-JP 4 186680491 186680491 single base substitution T C intron_variant LINC-JP 4 186687031 186687031 single base substitution T C intron_variant LINC-JP 4 186687031 186687031 single base substitution T C upstream_gene_variant LINC-JP 4 186693599 186693599 single base substitution G C downstream_gene_variant LINC-JP 4 186693599 186693599 single base substitution G C exon_variant LINC-JP 4 186693599 186693599 single base substitution G C intron_variant LINC-JP 4 186699029 186699029 single base substitution T C intron_variant LINC-JP 4 186699029 186699029 single base substitution T C upstream_gene_variant LINC-JP 4 186727590 186727590 single base substitution A T intron_variant LINC-JP 4 186731955 186731955 single base substitution T G 5_prime_UTR_variant LINC-JP 4 186731955 186731955 single base substitution T G intron_variant LINC-JP 4 186732549 186732549 single base substitution G A intron_variant LINC-JP 4 186732549 186732549 single base substitution G A upstream_gene_variant LINC-JP 4 186740184 186740184 single base substitution G C intron_variant LINC-JP 4 186772773 186772773 single base substitution C G intron_variant LINC-JP 4 186777776 186777776 single base substitution C A intron_variant LINC-JP 4 186795480 186795480 single base substitution A G intron_variant LINC-JP 4 186796021 186796021 insertion of <=200bp - GC intron_variant LINC-JP 4 186797272 186797272 single base substitution G T intron_variant LINC-JP 4 186797274 186797274 single base substitution T G intron_variant LINC-JP 4 186816155 186816155 single base substitution G T intron_variant LINC-JP 4 186820470 186820470 single base substitution C T intron_variant LINC-JP 4 186830148 186830148 single base substitution A G intron_variant LINC-JP 4 186834610 186834610 single base substitution A G intron_variant LINC-JP 4 186844410 186844410 single base substitution G A intron_variant LINC-JP 4 186846464 186846464 single base substitution C T intron_variant LINC-JP 4 186849347 186849347 single base substitution C A intron_variant LINC-JP 4 186867494 186867494 deletion of <=200bp A - intron_variant LINC-JP 4 186868099 186868099 single base substitution C T intron_variant LIRI-JP 4 186502462 186502462 single base substitution G A downstream_gene_variant LIRI-JP 4 186502618 186502618 single base substitution C A downstream_gene_variant LIRI-JP 4 186502619 186502619 single base substitution C A downstream_gene_variant LIRI-JP 4 186504459 186504459 single base substitution T G downstream_gene_variant LIRI-JP 4 186504788 186504788 single base substitution G T downstream_gene_variant LIRI-JP 4 186505390 186505390 single base substitution T C downstream_gene_variant LIRI-JP 4 186505484 186505484 single base substitution C A downstream_gene_variant LIRI-JP 4 186505756 186505756 single base substitution T C downstream_gene_variant LIRI-JP 4 186505986 186505986 single base substitution C T downstream_gene_variant LIRI-JP 4 186506787 186506787 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 186506787 186506787 single base substitution T C downstream_gene_variant LIRI-JP 4 186507773 186507773 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 186507773 186507773 single base substitution A G downstream_gene_variant LIRI-JP 4 186508605 186508605 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 186508605 186508605 single base substitution G A exon_variant LIRI-JP 4 186508811 186508811 single base substitution A C exon_variant LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T1091T 3273T>G LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T1191T 3573T>G LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T635T 1905T>G LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T652T 1956T>G LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T657T 1971T>G LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T722T 2166T>G LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T815T 2445T>G LIRI-JP 4 186508811 186508811 single base substitution A C synonymous_variant T995T 2985T>G LIRI-JP 4 186510063 186510063 single base substitution C T downstream_gene_variant LIRI-JP 4 186510063 186510063 single base substitution C T intron_variant LIRI-JP 4 186510585 186510585 single base substitution A T downstream_gene_variant LIRI-JP 4 186510585 186510585 single base substitution A T intron_variant LIRI-JP 4 186510679 186510679 single base substitution T C downstream_gene_variant LIRI-JP 4 186510679 186510679 single base substitution T C intron_variant LIRI-JP 4 186511001 186511001 single base substitution T C downstream_gene_variant LIRI-JP 4 186511001 186511001 single base substitution T C intron_variant LIRI-JP 4 186511001 186511001 single base substitution T C upstream_gene_variant LIRI-JP 4 186511745 186511745 single base substitution T C downstream_gene_variant LIRI-JP 4 186511745 186511745 single base substitution T C intron_variant LIRI-JP 4 186511745 186511745 single base substitution T C upstream_gene_variant LIRI-JP 4 186512385 186512385 single base substitution C T downstream_gene_variant LIRI-JP 4 186512385 186512385 single base substitution C T intron_variant LIRI-JP 4 186512385 186512385 single base substitution C T upstream_gene_variant LIRI-JP 4 186514013 186514013 single base substitution T C downstream_gene_variant LIRI-JP 4 186514013 186514013 single base substitution T C intron_variant LIRI-JP 4 186514013 186514013 single base substitution T C upstream_gene_variant LIRI-JP 4 186518524 186518524 single base substitution C T intron_variant LIRI-JP 4 186518974 186518974 single base substitution T C intron_variant LIRI-JP 4 186520367 186520367 single base substitution G A intron_variant LIRI-JP 4 186524042 186524042 single base substitution G A downstream_gene_variant LIRI-JP 4 186524042 186524042 single base substitution G A intron_variant LIRI-JP 4 186525351 186525351 single base substitution A G downstream_gene_variant LIRI-JP 4 186525351 186525351 single base substitution A G intron_variant LIRI-JP 4 186525765 186525765 single base substitution C T downstream_gene_variant LIRI-JP 4 186525765 186525765 single base substitution C T intron_variant LIRI-JP 4 186526620 186526620 single base substitution G A downstream_gene_variant LIRI-JP 4 186526620 186526620 single base substitution G A intron_variant LIRI-JP 4 186526621 186526621 single base substitution G T downstream_gene_variant LIRI-JP 4 186526621 186526621 single base substitution G T intron_variant LIRI-JP 4 186529882 186529882 single base substitution T C intron_variant LIRI-JP 4 186530509 186530509 single base substitution G A intron_variant LIRI-JP 4 186530510 186530510 single base substitution C A intron_variant LIRI-JP 4 186531562 186531562 single base substitution T G downstream_gene_variant LIRI-JP 4 186531562 186531562 single base substitution T G intron_variant LIRI-JP 4 186532466 186532471 deletion of <=200bp TTTGTG - downstream_gene_variant LIRI-JP 4 186532466 186532471 deletion of <=200bp TTTGTG - intron_variant LIRI-JP 4 186532933 186532933 single base substitution C T downstream_gene_variant LIRI-JP 4 186532933 186532933 single base substitution C T splice_donor_variant LIRI-JP 4 186533747 186533747 single base substitution A C downstream_gene_variant LIRI-JP 4 186533747 186533747 single base substitution A C intron_variant LIRI-JP 4 186533781 186533781 single base substitution T C downstream_gene_variant LIRI-JP 4 186533781 186533781 single base substitution T C intron_variant LIRI-JP 4 186533983 186533983 single base substitution A C downstream_gene_variant LIRI-JP 4 186533983 186533983 single base substitution A C intron_variant LIRI-JP 4 186535974 186535974 single base substitution A G downstream_gene_variant LIRI-JP 4 186535974 186535974 single base substitution A G exon_variant LIRI-JP 4 186535974 186535974 single base substitution A G intron_variant LIRI-JP 4 186536239 186536239 single base substitution T A downstream_gene_variant LIRI-JP 4 186536239 186536239 single base substitution T A exon_variant LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H1005L 3014A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H254L 761A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H449L 1346A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H466L 1397A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H471L 1412A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H496L 1487A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H536L 1607A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H629L 1886A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H809L 2426A>T LIRI-JP 4 186536239 186536239 single base substitution T A missense_variant H905L 2714A>T LIRI-JP 4 186536935 186536935 single base substitution T C downstream_gene_variant LIRI-JP 4 186536935 186536935 single base substitution T C intron_variant LIRI-JP 4 186536935 186536935 single base substitution T C upstream_gene_variant LIRI-JP 4 186539775 186539775 single base substitution G T exon_variant LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A217E 650C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A284E 851C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A412E 1235C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A429E 1286C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A434E 1301C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A459E 1376C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A499E 1496C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A592E 1775C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A772E 2315C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A868E 2603C>A LIRI-JP 4 186539775 186539775 single base substitution G T missense_variant A968E 2903C>A LIRI-JP 4 186539775 186539775 single base substitution G T upstream_gene_variant LIRI-JP 4 186542106 186542121 deletion of <=200bp TGCATGTAGTTCTTAA - downstream_gene_variant LIRI-JP 4 186542106 186542121 deletion of <=200bp TGCATGTAGTTCTTAA - intron_variant LIRI-JP 4 186542504 186542504 single base substitution A C downstream_gene_variant LIRI-JP 4 186542504 186542504 single base substitution A C intron_variant LIRI-JP 4 186545041 186545041 single base substitution G C downstream_gene_variant LIRI-JP 4 186545041 186545041 single base substitution G C intron_variant LIRI-JP 4 186545041 186545041 single base substitution G C missense_variant I414M 1242C>G LIRI-JP 4 186545041 186545041 single base substitution G C missense_variant I510M 1530C>G LIRI-JP 4 186545041 186545041 single base substitution G C missense_variant I610M 1830C>G LIRI-JP 4 186546717 186546717 single base substitution T G downstream_gene_variant LIRI-JP 4 186546717 186546717 single base substitution T G intron_variant LIRI-JP 4 186547358 186547358 single base substitution A T downstream_gene_variant LIRI-JP 4 186547358 186547358 single base substitution A T intron_variant LIRI-JP 4 186549849 186549849 single base substitution G A downstream_gene_variant LIRI-JP 4 186549849 186549849 single base substitution G A intron_variant LIRI-JP 4 186549849 186549849 single base substitution G A upstream_gene_variant LIRI-JP 4 186555298 186555298 single base substitution T C downstream_gene_variant LIRI-JP 4 186555298 186555298 single base substitution T C intron_variant LIRI-JP 4 186556378 186556378 single base substitution A G downstream_gene_variant LIRI-JP 4 186556378 186556378 single base substitution A G intron_variant LIRI-JP 4 186561038 186561038 single base substitution T C intron_variant LIRI-JP 4 186561343 186561343 single base substitution G A intron_variant LIRI-JP 4 186566134 186566134 single base substitution T C downstream_gene_variant LIRI-JP 4 186566134 186566134 single base substitution T C intron_variant LIRI-JP 4 186566868 186566868 single base substitution C G downstream_gene_variant LIRI-JP 4 186566868 186566868 single base substitution C G exon_variant LIRI-JP 4 186566868 186566868 single base substitution C G intron_variant LIRI-JP 4 186567645 186567645 single base substitution T C downstream_gene_variant LIRI-JP 4 186567645 186567645 single base substitution T C exon_variant LIRI-JP 4 186567645 186567645 single base substitution T C intron_variant LIRI-JP 4 186569307 186569307 single base substitution G T downstream_gene_variant LIRI-JP 4 186569307 186569307 single base substitution G T intron_variant LIRI-JP 4 186569513 186569513 single base substitution G A downstream_gene_variant LIRI-JP 4 186569513 186569513 single base substitution G A intron_variant LIRI-JP 4 186570092 186570092 single base substitution T C downstream_gene_variant LIRI-JP 4 186570092 186570092 single base substitution T C intron_variant LIRI-JP 4 186570397 186570397 single base substitution T A downstream_gene_variant LIRI-JP 4 186570397 186570397 single base substitution T A intron_variant LIRI-JP 4 186572134 186572134 single base substitution C T downstream_gene_variant LIRI-JP 4 186572134 186572134 single base substitution C T intron_variant LIRI-JP 4 186572134 186572134 single base substitution C T upstream_gene_variant LIRI-JP 4 186572279 186572279 single base substitution G T downstream_gene_variant LIRI-JP 4 186572279 186572279 single base substitution G T intron_variant LIRI-JP 4 186572279 186572279 single base substitution G T upstream_gene_variant LIRI-JP 4 186573577 186573577 single base substitution G A downstream_gene_variant LIRI-JP 4 186573577 186573577 single base substitution G A intron_variant LIRI-JP 4 186573577 186573577 single base substitution G A upstream_gene_variant LIRI-JP 4 186575440 186575440 single base substitution T C downstream_gene_variant LIRI-JP 4 186575440 186575440 single base substitution T C intron_variant LIRI-JP 4 186575440 186575440 single base substitution T C upstream_gene_variant LIRI-JP 4 186576382 186576382 single base substitution G T downstream_gene_variant LIRI-JP 4 186576382 186576382 single base substitution G T intron_variant LIRI-JP 4 186576382 186576382 single base substitution G T upstream_gene_variant LIRI-JP 4 186577068 186577068 single base substitution A G downstream_gene_variant LIRI-JP 4 186577068 186577068 single base substitution A G intron_variant LIRI-JP 4 186577068 186577068 single base substitution A G upstream_gene_variant LIRI-JP 4 186578019 186578019 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 4 186578019 186578019 single base substitution G A downstream_gene_variant LIRI-JP 4 186578019 186578019 single base substitution G A exon_variant LIRI-JP 4 186578019 186578019 single base substitution G A intron_variant LIRI-JP 4 186578019 186578019 single base substitution G A upstream_gene_variant LIRI-JP 4 186581247 186581247 deletion of <=200bp T - downstream_gene_variant LIRI-JP 4 186581247 186581247 deletion of <=200bp T - intron_variant LIRI-JP 4 186581247 186581247 deletion of <=200bp T - upstream_gene_variant LIRI-JP 4 186584234 186584234 single base substitution C T downstream_gene_variant LIRI-JP 4 186584234 186584234 single base substitution C T intron_variant LIRI-JP 4 186584316 186584316 single base substitution G T downstream_gene_variant LIRI-JP 4 186584316 186584316 single base substitution G T intron_variant LIRI-JP 4 186586730 186586730 single base substitution G C downstream_gene_variant LIRI-JP 4 186586730 186586730 single base substitution G C intron_variant LIRI-JP 4 186587380 186587380 single base substitution A G intron_variant LIRI-JP 4 186588943 186588943 single base substitution C A intron_variant LIRI-JP 4 186589305 186589305 single base substitution C T intron_variant LIRI-JP 4 186589972 186589972 single base substitution G T intron_variant LIRI-JP 4 186590797 186590797 single base substitution T G intron_variant LIRI-JP 4 186591278 186591278 single base substitution C T intron_variant LIRI-JP 4 186592827 186592827 single base substitution G T intron_variant LIRI-JP 4 186595589 186595589 single base substitution T C downstream_gene_variant LIRI-JP 4 186595589 186595589 single base substitution T C intron_variant LIRI-JP 4 186595610 186595610 single base substitution T C downstream_gene_variant LIRI-JP 4 186595610 186595610 single base substitution T C intron_variant LIRI-JP 4 186596105 186596105 single base substitution T C downstream_gene_variant LIRI-JP 4 186596105 186596105 single base substitution T C intron_variant LIRI-JP 4 186596799 186596799 single base substitution T C downstream_gene_variant LIRI-JP 4 186596799 186596799 single base substitution T C intron_variant LIRI-JP 4 186597622 186597622 single base substitution C T downstream_gene_variant LIRI-JP 4 186597622 186597622 single base substitution C T intron_variant LIRI-JP 4 186602699 186602699 deletion of <=200bp T - downstream_gene_variant LIRI-JP 4 186602699 186602699 deletion of <=200bp T - intron_variant LIRI-JP 4 186603953 186603953 single base substitution T C downstream_gene_variant LIRI-JP 4 186603953 186603953 single base substitution T C intron_variant LIRI-JP 4 186606402 186606402 single base substitution T C intron_variant LIRI-JP 4 186607764 186607764 single base substitution T C intron_variant LIRI-JP 4 186608112 186608112 single base substitution T C intron_variant LIRI-JP 4 186608855 186608855 single base substitution G A intron_variant LIRI-JP 4 186610851 186610851 single base substitution T C intron_variant LIRI-JP 4 186610903 186610903 single base substitution C A intron_variant LIRI-JP 4 186614027 186614030 deletion of <=200bp AATT - intron_variant LIRI-JP 4 186614027 186614030 deletion of <=200bp AATT - upstream_gene_variant LIRI-JP 4 186614605 186614605 insertion of <=200bp - A intron_variant LIRI-JP 4 186614605 186614605 insertion of <=200bp - A upstream_gene_variant LIRI-JP 4 186615200 186615200 single base substitution C A intron_variant LIRI-JP 4 186615200 186615200 single base substitution C A upstream_gene_variant LIRI-JP 4 186615491 186615491 insertion of <=200bp - A intron_variant LIRI-JP 4 186615491 186615491 insertion of <=200bp - A upstream_gene_variant LIRI-JP 4 186616771 186616771 single base substitution T C intron_variant LIRI-JP 4 186617069 186617069 single base substitution T A intron_variant LIRI-JP 4 186617097 186617097 single base substitution A G intron_variant LIRI-JP 4 186618102 186618102 single base substitution C G intron_variant LIRI-JP 4 186618874 186618874 single base substitution A G intron_variant LIRI-JP 4 186619235 186619235 single base substitution T C intron_variant LIRI-JP 4 186619486 186619486 single base substitution C T intron_variant LIRI-JP 4 186620132 186620132 single base substitution T C intron_variant LIRI-JP 4 186622180 186622180 single base substitution C G intron_variant LIRI-JP 4 186624164 186624164 single base substitution T C intron_variant LIRI-JP 4 186624941 186624941 single base substitution T C intron_variant LIRI-JP 4 186629861 186629861 single base substitution T C intron_variant LIRI-JP 4 186635751 186635751 single base substitution T C intron_variant LIRI-JP 4 186636596 186636596 single base substitution T C intron_variant LIRI-JP 4 186637418 186637418 single base substitution G A intron_variant LIRI-JP 4 186637419 186637419 single base substitution C A intron_variant LIRI-JP 4 186638988 186638988 single base substitution C T intron_variant LIRI-JP 4 186639340 186639340 single base substitution G T intron_variant LIRI-JP 4 186641900 186641900 single base substitution G A intron_variant LIRI-JP 4 186643355 186643355 single base substitution T C intron_variant LIRI-JP 4 186643437 186643437 single base substitution A C intron_variant LIRI-JP 4 186644592 186644592 single base substitution T C intron_variant LIRI-JP 4 186645009 186645009 insertion of <=200bp - A intron_variant LIRI-JP 4 186645122 186645122 single base substitution C A intron_variant LIRI-JP 4 186645357 186645357 single base substitution T C intron_variant LIRI-JP 4 186648043 186648043 single base substitution C T intron_variant LIRI-JP 4 186648100 186648100 single base substitution A C intron_variant LIRI-JP 4 186648896 186648896 single base substitution T A intron_variant LIRI-JP 4 186650967 186650967 single base substitution T C intron_variant LIRI-JP 4 186651414 186651414 single base substitution A C intron_variant LIRI-JP 4 186653127 186653127 single base substitution T C intron_variant LIRI-JP 4 186653361 186653361 single base substitution G A intron_variant LIRI-JP 4 186654737 186654737 single base substitution C T intron_variant LIRI-JP 4 186655539 186655539 single base substitution T C intron_variant LIRI-JP 4 186656914 186656914 single base substitution A G intron_variant LIRI-JP 4 186659201 186659201 single base substitution A G intron_variant LIRI-JP 4 186662378 186662378 single base substitution T C intron_variant LIRI-JP 4 186662378 186662378 single base substitution T C upstream_gene_variant LIRI-JP 4 186663802 186663802 single base substitution G A intron_variant LIRI-JP 4 186663802 186663802 single base substitution G A upstream_gene_variant LIRI-JP 4 186666988 186666988 single base substitution T C intron_variant LIRI-JP 4 186668032 186668032 single base substitution G A intron_variant LIRI-JP 4 186668170 186668170 single base substitution G A intron_variant LIRI-JP 4 186670974 186670974 single base substitution G A intron_variant LIRI-JP 4 186673316 186673316 single base substitution T C downstream_gene_variant LIRI-JP 4 186673316 186673316 single base substitution T C intron_variant LIRI-JP 4 186673983 186673983 single base substitution A C downstream_gene_variant LIRI-JP 4 186673983 186673983 single base substitution A C intron_variant LIRI-JP 4 186673991 186673991 single base substitution A G downstream_gene_variant LIRI-JP 4 186673991 186673991 single base substitution A G intron_variant LIRI-JP 4 186674968 186674968 single base substitution T A downstream_gene_variant LIRI-JP 4 186674968 186674968 single base substitution T A intron_variant LIRI-JP 4 186682156 186682156 single base substitution T C intron_variant LIRI-JP 4 186682770 186682770 single base substitution T C intron_variant LIRI-JP 4 186682770 186682770 single base substitution T C upstream_gene_variant LIRI-JP 4 186684388 186684388 single base substitution C G intron_variant LIRI-JP 4 186684388 186684388 single base substitution C G upstream_gene_variant LIRI-JP 4 186685739 186685739 single base substitution T C intron_variant LIRI-JP 4 186685739 186685739 single base substitution T C upstream_gene_variant LIRI-JP 4 186687288 186687288 single base substitution G A downstream_gene_variant LIRI-JP 4 186687288 186687288 single base substitution G A intron_variant LIRI-JP 4 186687288 186687288 single base substitution G A upstream_gene_variant LIRI-JP 4 186689947 186689947 single base substitution C T downstream_gene_variant LIRI-JP 4 186689947 186689947 single base substitution C T intron_variant LIRI-JP 4 186690713 186690713 single base substitution C T downstream_gene_variant LIRI-JP 4 186690713 186690713 single base substitution C T intron_variant LIRI-JP 4 186692269 186692269 single base substitution G C downstream_gene_variant LIRI-JP 4 186692269 186692269 single base substitution G C exon_variant LIRI-JP 4 186692269 186692269 single base substitution G C intron_variant LIRI-JP 4 186692339 186692339 single base substitution T G downstream_gene_variant LIRI-JP 4 186692339 186692339 single base substitution T G exon_variant LIRI-JP 4 186692339 186692339 single base substitution T G intron_variant LIRI-JP 4 186692354 186692354 single base substitution A G downstream_gene_variant LIRI-JP 4 186692354 186692354 single base substitution A G exon_variant LIRI-JP 4 186692354 186692354 single base substitution A G intron_variant LIRI-JP 4 186692396 186692396 single base substitution C A downstream_gene_variant LIRI-JP 4 186692396 186692396 single base substitution C A exon_variant LIRI-JP 4 186692396 186692396 single base substitution C A intron_variant LIRI-JP 4 186693073 186693073 single base substitution T C downstream_gene_variant LIRI-JP 4 186693073 186693073 single base substitution T C exon_variant LIRI-JP 4 186693073 186693073 single base substitution T C intron_variant LIRI-JP 4 186693751 186693751 single base substitution A G downstream_gene_variant LIRI-JP 4 186693751 186693751 single base substitution A G exon_variant LIRI-JP 4 186693751 186693751 single base substitution A G intron_variant LIRI-JP 4 186699685 186699685 single base substitution G C intron_variant LIRI-JP 4 186699685 186699685 single base substitution G C upstream_gene_variant LIRI-JP 4 186699824 186699824 single base substitution T C intron_variant LIRI-JP 4 186699824 186699824 single base substitution T C upstream_gene_variant LIRI-JP 4 186700542 186700542 single base substitution T A intron_variant LIRI-JP 4 186700542 186700542 single base substitution T A upstream_gene_variant LIRI-JP 4 186701380 186701380 single base substitution G C intron_variant LIRI-JP 4 186701380 186701380 single base substitution G C upstream_gene_variant LIRI-JP 4 186703893 186703893 single base substitution A C intron_variant LIRI-JP 4 186703912 186703912 single base substitution A C intron_variant LIRI-JP 4 186703961 186703961 single base substitution A C intron_variant LIRI-JP 4 186704065 186704065 single base substitution T C intron_variant LIRI-JP 4 186705070 186705070 single base substitution C T intron_variant LIRI-JP 4 186706179 186706179 single base substitution A G intron_variant LIRI-JP 4 186708362 186708362 single base substitution T G intron_variant LIRI-JP 4 186712140 186712140 single base substitution T A intron_variant LIRI-JP 4 186712552 186712552 single base substitution G A intron_variant LIRI-JP 4 186716367 186716367 single base substitution A T intron_variant LIRI-JP 4 186716888 186716888 single base substitution G A intron_variant LIRI-JP 4 186717332 186717332 single base substitution T C intron_variant LIRI-JP 4 186718273 186718273 single base substitution T C intron_variant LIRI-JP 4 186719800 186719800 single base substitution T G intron_variant LIRI-JP 4 186720559 186720559 single base substitution A C intron_variant LIRI-JP 4 186721082 186721082 single base substitution T C intron_variant LIRI-JP 4 186722035 186722035 single base substitution A G intron_variant LIRI-JP 4 186722667 186722667 single base substitution A G intron_variant LIRI-JP 4 186722971 186722971 single base substitution T C intron_variant LIRI-JP 4 186726213 186726213 single base substitution A G intron_variant LIRI-JP 4 186726218 186726218 single base substitution T C intron_variant LIRI-JP 4 186727011 186727011 single base substitution T C intron_variant LIRI-JP 4 186731234 186731234 single base substitution T C intron_variant LIRI-JP 4 186731500 186731500 single base substitution A G intron_variant LIRI-JP 4 186731520 186731520 single base substitution T C intron_variant LIRI-JP 4 186732662 186732662 single base substitution T C intron_variant LIRI-JP 4 186732662 186732662 single base substitution T C upstream_gene_variant LIRI-JP 4 186734236 186734236 single base substitution T G 5_prime_UTR_variant LIRI-JP 4 186734236 186734236 single base substitution T G intron_variant LIRI-JP 4 186734236 186734236 single base substitution T G upstream_gene_variant LIRI-JP 4 186734386 186734386 single base substitution T C intron_variant LIRI-JP 4 186734386 186734386 single base substitution T C upstream_gene_variant LIRI-JP 4 186734965 186734965 single base substitution T A intron_variant LIRI-JP 4 186734965 186734965 single base substitution T A upstream_gene_variant LIRI-JP 4 186735459 186735459 single base substitution G A intron_variant LIRI-JP 4 186735459 186735459 single base substitution G A upstream_gene_variant LIRI-JP 4 186737995 186737995 single base substitution T G intron_variant LIRI-JP 4 186737995 186737995 single base substitution T G upstream_gene_variant LIRI-JP 4 186739993 186739993 single base substitution A G intron_variant LIRI-JP 4 186741303 186741303 single base substitution C T intron_variant LIRI-JP 4 186742200 186742200 single base substitution A G intron_variant LIRI-JP 4 186742532 186742532 single base substitution G C intron_variant LIRI-JP 4 186743718 186743718 single base substitution A G intron_variant LIRI-JP 4 186744793 186744793 single base substitution A G intron_variant LIRI-JP 4 186744963 186744963 single base substitution C T intron_variant LIRI-JP 4 186747243 186747243 single base substitution C G intron_variant LIRI-JP 4 186749886 186749886 single base substitution A G intron_variant LIRI-JP 4 186752061 186752061 single base substitution A G intron_variant LIRI-JP 4 186756618 186756618 single base substitution A T intron_variant LIRI-JP 4 186757276 186757276 single base substitution T G intron_variant LIRI-JP 4 186762981 186762981 single base substitution T A intron_variant LIRI-JP 4 186763283 186763283 single base substitution T C intron_variant LIRI-JP 4 186764066 186764066 single base substitution C T intron_variant LIRI-JP 4 186767481 186767481 single base substitution T A intron_variant LIRI-JP 4 186770195 186770195 single base substitution T C intron_variant LIRI-JP 4 186770437 186770437 single base substitution G T intron_variant LIRI-JP 4 186775431 186775431 single base substitution C T intron_variant LIRI-JP 4 186779263 186779263 single base substitution C T intron_variant LIRI-JP 4 186781035 186781035 single base substitution A G intron_variant LIRI-JP 4 186781489 186781489 single base substitution T C intron_variant LIRI-JP 4 186784383 186784383 single base substitution C T intron_variant LIRI-JP 4 186784985 186784985 single base substitution A T intron_variant LIRI-JP 4 186785415 186785415 single base substitution A G intron_variant LIRI-JP 4 186788070 186788070 single base substitution T C intron_variant LIRI-JP 4 186788251 186788251 single base substitution C A intron_variant LIRI-JP 4 186790207 186790207 single base substitution T C intron_variant LIRI-JP 4 186792136 186792136 single base substitution A G intron_variant LIRI-JP 4 186793623 186793623 single base substitution G A intron_variant LIRI-JP 4 186799616 186799616 single base substitution C T intron_variant LIRI-JP 4 186800701 186800701 single base substitution G C intron_variant LIRI-JP 4 186800761 186800761 single base substitution A T intron_variant LIRI-JP 4 186802875 186802875 single base substitution T G intron_variant LIRI-JP 4 186803767 186803767 single base substitution G A intron_variant LIRI-JP 4 186804271 186804271 single base substitution C A intron_variant LIRI-JP 4 186805217 186805217 single base substitution C A intron_variant LIRI-JP 4 186805728 186805728 single base substitution G T intron_variant LIRI-JP 4 186805790 186805790 single base substitution C T intron_variant LIRI-JP 4 186807517 186807517 single base substitution G A intron_variant LIRI-JP 4 186810935 186810935 single base substitution A G intron_variant LIRI-JP 4 186811681 186811681 single base substitution G A intron_variant LIRI-JP 4 186812849 186812849 single base substitution C G intron_variant LIRI-JP 4 186816052 186816052 single base substitution G A intron_variant LIRI-JP 4 186819279 186819279 single base substitution T C intron_variant LIRI-JP 4 186819843 186819843 single base substitution T C intron_variant LIRI-JP 4 186820438 186820438 single base substitution G A intron_variant LIRI-JP 4 186823359 186823359 single base substitution C T intron_variant LIRI-JP 4 186828887 186828887 single base substitution C T intron_variant LIRI-JP 4 186831612 186831612 single base substitution C T intron_variant LIRI-JP 4 186832114 186832114 insertion of <=200bp - A intron_variant LIRI-JP 4 186832219 186832219 single base substitution C A intron_variant LIRI-JP 4 186833573 186833573 single base substitution T C intron_variant LIRI-JP 4 186834717 186834717 single base substitution A T intron_variant LIRI-JP 4 186834852 186834852 single base substitution G T intron_variant LIRI-JP 4 186836706 186836706 single base substitution T C intron_variant LIRI-JP 4 186837379 186837379 single base substitution T A intron_variant LIRI-JP 4 186839463 186839463 single base substitution A G intron_variant LIRI-JP 4 186843653 186843653 single base substitution A G intron_variant LIRI-JP 4 186847705 186847705 insertion of <=200bp - T intron_variant LIRI-JP 4 186848232 186848232 single base substitution A G intron_variant LIRI-JP 4 186851188 186851188 single base substitution A G intron_variant LIRI-JP 4 186853268 186853269 deletion of <=200bp AC - intron_variant LIRI-JP 4 186853793 186853793 single base substitution T C intron_variant LIRI-JP 4 186853916 186853916 single base substitution A G intron_variant LIRI-JP 4 186855376 186855376 single base substitution C G intron_variant LIRI-JP 4 186855376 186855376 single base substitution C G upstream_gene_variant LIRI-JP 4 186856711 186856711 single base substitution G T intron_variant LIRI-JP 4 186856711 186856711 single base substitution G T upstream_gene_variant LIRI-JP 4 186859338 186859338 single base substitution G A intron_variant LIRI-JP 4 186859338 186859338 single base substitution G A upstream_gene_variant LIRI-JP 4 186860589 186860589 single base substitution C G intron_variant LIRI-JP 4 186860653 186860653 single base substitution A G intron_variant LIRI-JP 4 186860754 186860754 single base substitution T G intron_variant LIRI-JP 4 186861928 186861928 single base substitution T C intron_variant LIRI-JP 4 186862757 186862757 single base substitution C T intron_variant LIRI-JP 4 186863400 186863400 single base substitution G T intron_variant LIRI-JP 4 186864180 186864180 single base substitution T C intron_variant LIRI-JP 4 186866830 186866830 single base substitution C A intron_variant LIRI-JP 4 186867265 186867265 single base substitution T C intron_variant LIRI-JP 4 186867756 186867756 deletion of <=200bp A - intron_variant LIRI-JP 4 186868208 186868208 single base substitution C T intron_variant LIRI-JP 4 186870217 186870217 single base substitution C G intron_variant LIRI-JP 4 186870991 186870991 single base substitution A G intron_variant LIRI-JP 4 186872311 186872311 single base substitution G A intron_variant LIRI-JP 4 186875600 186875607 deletion of <=200bp TTACTTGC - intron_variant LIRI-JP 4 186876082 186876082 single base substitution G T intron_variant LIRI-JP 4 186878129 186878129 single base substitution A T upstream_gene_variant LIRI-JP 4 186878310 186878310 single base substitution G A upstream_gene_variant LIRI-JP 4 186881098 186881098 single base substitution C A upstream_gene_variant LIRI-JP 4 186882588 186882588 single base substitution G T upstream_gene_variant LUSC-KR 4 186506318 186506318 single base substitution C G downstream_gene_variant LUSC-KR 4 186506319 186506319 single base substitution G A downstream_gene_variant LUSC-KR 4 186507021 186507021 single base substitution A G 3_prime_UTR_variant LUSC-KR 4 186507021 186507021 single base substitution A G downstream_gene_variant LUSC-KR 4 186507409 186507409 single base substitution C T 3_prime_UTR_variant LUSC-KR 4 186507409 186507409 single base substitution C T downstream_gene_variant LUSC-KR 4 186507976 186507976 single base substitution C T 3_prime_UTR_variant LUSC-KR 4 186507976 186507976 single base substitution C T downstream_gene_variant LUSC-KR 4 186510401 186510401 single base substitution C T downstream_gene_variant LUSC-KR 4 186510401 186510401 single base substitution C T intron_variant LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G1042G 3126G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G1142G 3426G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G586G 1758G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G603G 1809G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G608G 1824G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G633G 1899G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G673G 2019G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G766G 2298G>A LUSC-KR 4 186515048 186515048 single base substitution C T synonymous_variant G946G 2838G>A LUSC-KR 4 186515048 186515048 single base substitution C T upstream_gene_variant LUSC-KR 4 186523513 186523513 single base substitution T A downstream_gene_variant LUSC-KR 4 186523513 186523513 single base substitution T A intron_variant LUSC-KR 4 186526780 186526780 single base substitution C A downstream_gene_variant LUSC-KR 4 186526780 186526780 single base substitution C A intron_variant LUSC-KR 4 186527415 186527415 single base substitution G A downstream_gene_variant LUSC-KR 4 186527415 186527415 single base substitution G A intron_variant LUSC-KR 4 186528460 186528460 single base substitution G A exon_variant LUSC-KR 4 186528460 186528460 single base substitution G A intron_variant LUSC-KR 4 186535337 186535337 single base substitution G T downstream_gene_variant LUSC-KR 4 186535337 186535337 single base substitution G T intron_variant LUSC-KR 4 186538188 186538188 single base substitution C A downstream_gene_variant LUSC-KR 4 186538188 186538188 single base substitution C A intron_variant LUSC-KR 4 186538188 186538188 single base substitution C A upstream_gene_variant LUSC-KR 4 186539269 186539269 single base substitution C G downstream_gene_variant LUSC-KR 4 186539269 186539269 single base substitution C G intron_variant LUSC-KR 4 186539269 186539269 single base substitution C G upstream_gene_variant LUSC-KR 4 186545061 186545061 single base substitution C A downstream_gene_variant LUSC-KR 4 186545061 186545061 single base substitution C A intron_variant LUSC-KR 4 186545061 186545061 single base substitution C A missense_variant D408Y 1222G>T LUSC-KR 4 186545061 186545061 single base substitution C A missense_variant D504Y 1510G>T LUSC-KR 4 186545061 186545061 single base substitution C A missense_variant D604Y 1810G>T LUSC-KR 4 186548562 186548562 single base substitution G A downstream_gene_variant LUSC-KR 4 186548562 186548562 single base substitution G A intron_variant LUSC-KR 4 186548562 186548562 single base substitution G A upstream_gene_variant LUSC-KR 4 186559109 186559109 single base substitution T C downstream_gene_variant LUSC-KR 4 186559109 186559109 single base substitution T C intron_variant LUSC-KR 4 186560366 186560366 single base substitution C A intron_variant LUSC-KR 4 186561335 186561335 single base substitution G T intron_variant LUSC-KR 4 186562133 186562133 single base substitution C G downstream_gene_variant LUSC-KR 4 186562133 186562133 single base substitution C G intron_variant LUSC-KR 4 186568595 186568595 single base substitution C G intron_variant LUSC-KR 4 186570152 186570152 single base substitution G T downstream_gene_variant LUSC-KR 4 186570152 186570152 single base substitution G T intron_variant LUSC-KR 4 186573741 186573741 single base substitution C G downstream_gene_variant LUSC-KR 4 186573741 186573741 single base substitution C G intron_variant LUSC-KR 4 186573741 186573741 single base substitution C G upstream_gene_variant LUSC-KR 4 186582257 186582257 single base substitution C T downstream_gene_variant LUSC-KR 4 186582257 186582257 single base substitution C T intron_variant LUSC-KR 4 186582257 186582257 single base substitution C T upstream_gene_variant LUSC-KR 4 186584624 186584624 single base substitution C T downstream_gene_variant LUSC-KR 4 186584624 186584624 single base substitution C T intron_variant LUSC-KR 4 186589712 186589712 single base substitution C A intron_variant LUSC-KR 4 186593536 186593536 single base substitution A G downstream_gene_variant LUSC-KR 4 186593536 186593536 single base substitution A G intron_variant LUSC-KR 4 186595309 186595309 single base substitution C T downstream_gene_variant LUSC-KR 4 186595309 186595309 single base substitution C T intron_variant LUSC-KR 4 186597796 186597796 single base substitution T C downstream_gene_variant LUSC-KR 4 186597796 186597796 single base substitution T C intron_variant LUSC-KR 4 186598106 186598106 single base substitution C T downstream_gene_variant LUSC-KR 4 186598106 186598106 single base substitution C T intron_variant LUSC-KR 4 186599689 186599689 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 4 186599689 186599689 single base substitution T C exon_variant LUSC-KR 4 186599689 186599689 single base substitution T C intron_variant LUSC-KR 4 186599689 186599689 single base substitution T C missense_variant Y17C 50A>G LUSC-KR 4 186599689 186599689 single base substitution T C missense_variant Y34C 101A>G LUSC-KR 4 186599689 186599689 single base substitution T C missense_variant Y48C 143A>G LUSC-KR 4 186605735 186605735 single base substitution A C downstream_gene_variant LUSC-KR 4 186605735 186605735 single base substitution A C intron_variant LUSC-KR 4 186611663 186611663 single base substitution C T intron_variant LUSC-KR 4 186614273 186614273 single base substitution G A intron_variant LUSC-KR 4 186614273 186614273 single base substitution G A upstream_gene_variant LUSC-KR 4 186619379 186619379 single base substitution C A intron_variant LUSC-KR 4 186626845 186626845 single base substitution C A intron_variant LUSC-KR 4 186633167 186633167 single base substitution C A intron_variant LUSC-KR 4 186636115 186636115 single base substitution G T intron_variant LUSC-KR 4 186639552 186639552 single base substitution T C intron_variant LUSC-KR 4 186641216 186641216 single base substitution G T intron_variant LUSC-KR 4 186662583 186662583 single base substitution A G intron_variant LUSC-KR 4 186662583 186662583 single base substitution A G upstream_gene_variant LUSC-KR 4 186664779 186664779 single base substitution C T intron_variant LUSC-KR 4 186664779 186664779 single base substitution C T upstream_gene_variant LUSC-KR 4 186665913 186665913 single base substitution C A intron_variant LUSC-KR 4 186665913 186665913 single base substitution C A upstream_gene_variant LUSC-KR 4 186668052 186668052 single base substitution C T intron_variant LUSC-KR 4 186677520 186677520 single base substitution A G downstream_gene_variant LUSC-KR 4 186677520 186677520 single base substitution A G intron_variant LUSC-KR 4 186677897 186677897 single base substitution C T downstream_gene_variant LUSC-KR 4 186677897 186677897 single base substitution C T intron_variant LUSC-KR 4 186678454 186678454 single base substitution T G exon_variant LUSC-KR 4 186678454 186678454 single base substitution T G intron_variant LUSC-KR 4 186688279 186688279 single base substitution G A downstream_gene_variant LUSC-KR 4 186688279 186688279 single base substitution G A intron_variant LUSC-KR 4 186689821 186689821 single base substitution C T downstream_gene_variant LUSC-KR 4 186689821 186689821 single base substitution C T intron_variant LUSC-KR 4 186690106 186690106 single base substitution T A downstream_gene_variant LUSC-KR 4 186690106 186690106 single base substitution T A intron_variant LUSC-KR 4 186691125 186691125 single base substitution G C downstream_gene_variant LUSC-KR 4 186691125 186691125 single base substitution G C intron_variant LUSC-KR 4 186693056 186693056 single base substitution G A downstream_gene_variant LUSC-KR 4 186693056 186693056 single base substitution G A exon_variant LUSC-KR 4 186693056 186693056 single base substitution G A intron_variant LUSC-KR 4 186700189 186700189 single base substitution T A intron_variant LUSC-KR 4 186700189 186700189 single base substitution T A upstream_gene_variant LUSC-KR 4 186711526 186711526 single base substitution T C intron_variant LUSC-KR 4 186713813 186713813 single base substitution C G intron_variant LUSC-KR 4 186714205 186714205 single base substitution G T intron_variant LUSC-KR 4 186714523 186714523 single base substitution C A intron_variant LUSC-KR 4 186718093 186718093 single base substitution A G intron_variant LUSC-KR 4 186718971 186718971 single base substitution C T intron_variant LUSC-KR 4 186735314 186735314 single base substitution T G intron_variant LUSC-KR 4 186735314 186735314 single base substitution T G upstream_gene_variant LUSC-KR 4 186735974 186735974 single base substitution C T intron_variant LUSC-KR 4 186735974 186735974 single base substitution C T upstream_gene_variant LUSC-KR 4 186743805 186743805 single base substitution A G intron_variant LUSC-KR 4 186746392 186746392 single base substitution C T intron_variant LUSC-KR 4 186754247 186754247 single base substitution T A intron_variant LUSC-KR 4 186755753 186755753 single base substitution C A intron_variant LUSC-KR 4 186759318 186759318 single base substitution G A intron_variant LUSC-KR 4 186760298 186760298 single base substitution T A intron_variant LUSC-KR 4 186762832 186762832 single base substitution C G intron_variant LUSC-KR 4 186764181 186764181 single base substitution G T intron_variant LUSC-KR 4 186765338 186765338 single base substitution G A intron_variant LUSC-KR 4 186772525 186772525 single base substitution G T intron_variant LUSC-KR 4 186773460 186773460 single base substitution G A intron_variant LUSC-KR 4 186774421 186774421 single base substitution C A intron_variant LUSC-KR 4 186777195 186777195 single base substitution C A intron_variant LUSC-KR 4 186778969 186778969 single base substitution C A intron_variant LUSC-KR 4 186778970 186778970 single base substitution C A intron_variant LUSC-KR 4 186786015 186786015 single base substitution G A intron_variant LUSC-KR 4 186792049 186792049 single base substitution C T intron_variant LUSC-KR 4 186797694 186797694 single base substitution T A intron_variant LUSC-KR 4 186806149 186806149 single base substitution G A intron_variant LUSC-KR 4 186806952 186806952 single base substitution G T intron_variant LUSC-KR 4 186810868 186810868 single base substitution G C intron_variant LUSC-KR 4 186812119 186812119 single base substitution C T intron_variant LUSC-KR 4 186813111 186813111 single base substitution C T intron_variant LUSC-KR 4 186815222 186815222 single base substitution T A intron_variant LUSC-KR 4 186815283 186815283 single base substitution A C intron_variant LUSC-KR 4 186815947 186815947 single base substitution C T intron_variant LUSC-KR 4 186816544 186816544 single base substitution C A intron_variant LUSC-KR 4 186819186 186819186 single base substitution G C intron_variant LUSC-KR 4 186819975 186819975 single base substitution G A intron_variant LUSC-KR 4 186825898 186825898 single base substitution G C intron_variant LUSC-KR 4 186827392 186827392 single base substitution G T intron_variant LUSC-KR 4 186832773 186832773 single base substitution G T intron_variant LUSC-KR 4 186832815 186832815 single base substitution G C intron_variant LUSC-KR 4 186834936 186834936 single base substitution C G intron_variant LUSC-KR 4 186836438 186836438 single base substitution C T intron_variant LUSC-KR 4 186838376 186838376 single base substitution C A intron_variant LUSC-KR 4 186844432 186844432 single base substitution T C intron_variant LUSC-KR 4 186846413 186846413 single base substitution C A intron_variant LUSC-KR 4 186849997 186849997 single base substitution G A intron_variant LUSC-KR 4 186852978 186852978 single base substitution T C intron_variant LUSC-KR 4 186853604 186853604 single base substitution C T intron_variant LUSC-KR 4 186856795 186856795 single base substitution G C intron_variant LUSC-KR 4 186856795 186856795 single base substitution G C upstream_gene_variant LUSC-KR 4 186857661 186857661 single base substitution G C intron_variant LUSC-KR 4 186857661 186857661 single base substitution G C upstream_gene_variant LUSC-KR 4 186857812 186857812 single base substitution A G intron_variant LUSC-KR 4 186857812 186857812 single base substitution A G upstream_gene_variant LUSC-KR 4 186859182 186859182 single base substitution G T intron_variant LUSC-KR 4 186859182 186859182 single base substitution G T upstream_gene_variant LUSC-KR 4 186863849 186863849 single base substitution T A intron_variant LUSC-KR 4 186864781 186864781 single base substitution T C intron_variant LUSC-KR 4 186868145 186868145 single base substitution G T intron_variant LUSC-KR 4 186868376 186868376 single base substitution G C intron_variant LUSC-KR 4 186876458 186876458 single base substitution G A intron_variant LUSC-KR 4 186878432 186878432 single base substitution C A upstream_gene_variant LUSC-KR 4 186879437 186879437 single base substitution C A upstream_gene_variant LUSC-US 4 186510909 186510909 single base substitution C T downstream_gene_variant LUSC-US 4 186510909 186510909 single base substitution C T exon_variant LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R1055R 3165G>A LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R1155R 3465G>A LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R599R 1797G>A LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R616R 1848G>A LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R621R 1863G>A LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R686R 2058G>A LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R779R 2337G>A LUSC-US 4 186510909 186510909 single base substitution C T synonymous_variant R959R 2877G>A LUSC-US 4 186533109 186533109 single base substitution C T downstream_gene_variant LUSC-US 4 186533109 186533109 single base substitution C T exon_variant LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R1070K 3209G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R514K 1541G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R531K 1592G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R536K 1607G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R561K 1682G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R601K 1802G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R694K 2081G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R874K 2621G>A LUSC-US 4 186533109 186533109 single base substitution C T missense_variant R970K 2909G>A LUSC-US 4 186536046 186536046 single base substitution C T downstream_gene_variant LUSC-US 4 186536046 186536046 single base substitution C T exon_variant LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G1041E 3122G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G290E 869G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G485E 1454G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G502E 1505G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G507E 1520G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G532E 1595G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G572E 1715G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G665E 1994G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G845E 2534G>A LUSC-US 4 186536046 186536046 single base substitution C T missense_variant G941E 2822G>A LUSC-US 4 186544316 186544316 single base substitution G T downstream_gene_variant LUSC-US 4 186544316 186544316 single base substitution G T intron_variant LUSC-US 4 186544316 186544316 single base substitution G T missense_variant P656Q 1967C>A LUSC-US 4 186544316 186544316 single base substitution G T missense_variant P752Q 2255C>A LUSC-US 4 186544316 186544316 single base substitution G T missense_variant P852Q 2555C>A LUSC-US 4 186544783 186544783 single base substitution G A downstream_gene_variant LUSC-US 4 186544783 186544783 single base substitution G A intron_variant LUSC-US 4 186544783 186544783 single base substitution G A synonymous_variant S500S 1500C>T LUSC-US 4 186544783 186544783 single base substitution G A synonymous_variant S596S 1788C>T LUSC-US 4 186544783 186544783 single base substitution G A synonymous_variant S696S 2088C>T LUSC-US 4 186545038 186545038 single base substitution G A downstream_gene_variant LUSC-US 4 186545038 186545038 single base substitution G A intron_variant LUSC-US 4 186545038 186545038 single base substitution G A synonymous_variant S415S 1245C>T LUSC-US 4 186545038 186545038 single base substitution G A synonymous_variant S511S 1533C>T LUSC-US 4 186545038 186545038 single base substitution G A synonymous_variant S611S 1833C>T LUSC-US 4 186545420 186545420 single base substitution C A downstream_gene_variant LUSC-US 4 186545420 186545420 single base substitution C A exon_variant LUSC-US 4 186545420 186545420 single base substitution C A intron_variant LUSC-US 4 186545420 186545420 single base substitution C A missense_variant C288F 863G>T LUSC-US 4 186545420 186545420 single base substitution C A missense_variant C384F 1151G>T LUSC-US 4 186545420 186545420 single base substitution C A missense_variant C484F 1451G>T LUSC-US 4 186578704 186578704 single base substitution G T downstream_gene_variant LUSC-US 4 186578704 186578704 single base substitution G T exon_variant LUSC-US 4 186578704 186578704 single base substitution G T synonymous_variant T116T 348C>A LUSC-US 4 186578704 186578704 single base substitution G T synonymous_variant T133T 399C>A LUSC-US 4 186578704 186578704 single base substitution G T synonymous_variant T147T 441C>A LUSC-US 4 186578704 186578704 single base substitution G T synonymous_variant T226T 678C>A LUSC-US 4 186578704 186578704 single base substitution G T synonymous_variant T47T 141C>A LUSC-US 4 186578704 186578704 single base substitution G T synonymous_variant T93T 279C>A LUSC-US 4 186578704 186578704 single base substitution G T upstream_gene_variant MALY-DE 4 186512132 186512132 single base substitution C G downstream_gene_variant MALY-DE 4 186512132 186512132 single base substitution C G intron_variant MALY-DE 4 186512132 186512132 single base substitution C G upstream_gene_variant MALY-DE 4 186512744 186512744 single base substitution T C downstream_gene_variant MALY-DE 4 186512744 186512744 single base substitution T C intron_variant MALY-DE 4 186512744 186512744 single base substitution T C upstream_gene_variant MALY-DE 4 186516367 186516367 single base substitution T C intron_variant MALY-DE 4 186524980 186524980 single base substitution A G downstream_gene_variant MALY-DE 4 186524980 186524980 single base substitution A G intron_variant MALY-DE 4 186526170 186526170 single base substitution T C downstream_gene_variant MALY-DE 4 186526170 186526170 single base substitution T C intron_variant MALY-DE 4 186526571 186526571 single base substitution G A downstream_gene_variant MALY-DE 4 186526571 186526571 single base substitution G A intron_variant MALY-DE 4 186533131 186533131 single base substitution C A downstream_gene_variant MALY-DE 4 186533131 186533131 single base substitution C A exon_variant MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D1063Y 3187G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D507Y 1519G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D524Y 1570G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D529Y 1585G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D554Y 1660G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D594Y 1780G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D687Y 2059G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D867Y 2599G>T MALY-DE 4 186533131 186533131 single base substitution C A missense_variant D963Y 2887G>T MALY-DE 4 186533710 186533710 single base substitution C T downstream_gene_variant MALY-DE 4 186533710 186533710 single base substitution C T intron_variant MALY-DE 4 186533998 186533998 single base substitution T C downstream_gene_variant MALY-DE 4 186533998 186533998 single base substitution T C intron_variant MALY-DE 4 186540991 186540991 single base substitution C T downstream_gene_variant MALY-DE 4 186540991 186540991 single base substitution C T intron_variant MALY-DE 4 186540991 186540991 single base substitution C T upstream_gene_variant MALY-DE 4 186543186 186543186 single base substitution G A downstream_gene_variant MALY-DE 4 186543186 186543186 single base substitution G A intron_variant MALY-DE 4 186545292 186545292 single base substitution C T downstream_gene_variant MALY-DE 4 186545292 186545292 single base substitution C T intron_variant MALY-DE 4 186545292 186545292 single base substitution C T missense_variant V331I 991G>A MALY-DE 4 186545292 186545292 single base substitution C T missense_variant V427I 1279G>A MALY-DE 4 186545292 186545292 single base substitution C T missense_variant V527I 1579G>A MALY-DE 4 186545487 186545487 single base substitution G A downstream_gene_variant MALY-DE 4 186545487 186545487 single base substitution G A exon_variant MALY-DE 4 186545487 186545487 single base substitution G A intron_variant MALY-DE 4 186545487 186545487 single base substitution G A missense_variant R266W 796C>T MALY-DE 4 186545487 186545487 single base substitution G A missense_variant R362W 1084C>T MALY-DE 4 186545487 186545487 single base substitution G A missense_variant R462W 1384C>T MALY-DE 4 186549485 186549485 deletion of <=200bp A - downstream_gene_variant MALY-DE 4 186549485 186549485 deletion of <=200bp A - intron_variant MALY-DE 4 186549485 186549485 deletion of <=200bp A - upstream_gene_variant MALY-DE 4 186549845 186549845 single base substitution G A downstream_gene_variant MALY-DE 4 186549845 186549845 single base substitution G A intron_variant MALY-DE 4 186549845 186549845 single base substitution G A upstream_gene_variant MALY-DE 4 186551024 186551024 single base substitution T C downstream_gene_variant MALY-DE 4 186551024 186551024 single base substitution T C intron_variant MALY-DE 4 186551024 186551024 single base substitution T C upstream_gene_variant MALY-DE 4 186555607 186555607 single base substitution T A downstream_gene_variant MALY-DE 4 186555607 186555607 single base substitution T A intron_variant MALY-DE 4 186560318 186560318 single base substitution T C intron_variant MALY-DE 4 186562800 186562800 single base substitution T G downstream_gene_variant MALY-DE 4 186562800 186562800 single base substitution T G intron_variant MALY-DE 4 186565037 186565037 single base substitution C T downstream_gene_variant MALY-DE 4 186565037 186565037 single base substitution C T intron_variant MALY-DE 4 186570288 186570288 single base substitution T G downstream_gene_variant MALY-DE 4 186570288 186570288 single base substitution T G intron_variant MALY-DE 4 186570444 186570444 single base substitution C T downstream_gene_variant MALY-DE 4 186570444 186570444 single base substitution C T intron_variant MALY-DE 4 186573120 186573120 deletion of <=200bp T - downstream_gene_variant MALY-DE 4 186573120 186573120 deletion of <=200bp T - intron_variant MALY-DE 4 186573120 186573120 deletion of <=200bp T - upstream_gene_variant MALY-DE 4 186574534 186574534 single base substitution G A downstream_gene_variant MALY-DE 4 186574534 186574534 single base substitution G A intron_variant MALY-DE 4 186574534 186574534 single base substitution G A upstream_gene_variant MALY-DE 4 186577505 186577505 single base substitution T A downstream_gene_variant MALY-DE 4 186577505 186577505 single base substitution T A intron_variant MALY-DE 4 186577505 186577505 single base substitution T A upstream_gene_variant MALY-DE 4 186582094 186582094 single base substitution T G downstream_gene_variant MALY-DE 4 186582094 186582094 single base substitution T G intron_variant MALY-DE 4 186582094 186582094 single base substitution T G upstream_gene_variant MALY-DE 4 186583011 186583011 single base substitution C G downstream_gene_variant MALY-DE 4 186583011 186583011 single base substitution C G intron_variant MALY-DE 4 186583011 186583011 single base substitution C G upstream_gene_variant MALY-DE 4 186583177 186583177 single base substitution T G downstream_gene_variant MALY-DE 4 186583177 186583177 single base substitution T G intron_variant MALY-DE 4 186583177 186583177 single base substitution T G upstream_gene_variant MALY-DE 4 186586815 186586815 single base substitution G A downstream_gene_variant MALY-DE 4 186586815 186586815 single base substitution G A intron_variant MALY-DE 4 186590990 186590990 single base substitution C T intron_variant MALY-DE 4 186596279 186596279 single base substitution A G downstream_gene_variant MALY-DE 4 186596279 186596279 single base substitution A G intron_variant MALY-DE 4 186599122 186599122 insertion of <=200bp - AT downstream_gene_variant MALY-DE 4 186599122 186599122 insertion of <=200bp - AT intron_variant MALY-DE 4 186599512 186599512 single base substitution C A downstream_gene_variant MALY-DE 4 186599512 186599512 single base substitution C A intron_variant MALY-DE 4 186605645 186605645 deletion of <=200bp A - downstream_gene_variant MALY-DE 4 186605645 186605645 deletion of <=200bp A - intron_variant MALY-DE 4 186609643 186609643 single base substitution T C intron_variant MALY-DE 4 186620583 186620583 single base substitution G A intron_variant MALY-DE 4 186623328 186623328 single base substitution T C intron_variant MALY-DE 4 186623736 186623736 single base substitution C T intron_variant MALY-DE 4 186629421 186629421 single base substitution A C intron_variant MALY-DE 4 186632115 186632115 single base substitution A C intron_variant MALY-DE 4 186635406 186635406 single base substitution G T intron_variant MALY-DE 4 186638014 186638014 single base substitution G A intron_variant MALY-DE 4 186639385 186639385 deletion of <=200bp A - intron_variant MALY-DE 4 186646274 186646274 single base substitution C G intron_variant MALY-DE 4 186646424 186646424 single base substitution G A intron_variant MALY-DE 4 186648525 186648525 single base substitution C T intron_variant MALY-DE 4 186649589 186649589 single base substitution T G intron_variant MALY-DE 4 186650822 186650822 single base substitution T G intron_variant MALY-DE 4 186651231 186651231 single base substitution C T intron_variant MALY-DE 4 186659288 186659288 single base substitution C A intron_variant MALY-DE 4 186659476 186659476 single base substitution G A intron_variant MALY-DE 4 186662051 186662051 single base substitution T G intron_variant MALY-DE 4 186662051 186662051 single base substitution T G upstream_gene_variant MALY-DE 4 186662907 186662907 deletion of <=200bp A - intron_variant MALY-DE 4 186662907 186662907 deletion of <=200bp A - upstream_gene_variant MALY-DE 4 186664113 186664113 single base substitution T G intron_variant MALY-DE 4 186664113 186664113 single base substitution T G upstream_gene_variant MALY-DE 4 186664637 186664637 single base substitution T C intron_variant MALY-DE 4 186664637 186664637 single base substitution T C upstream_gene_variant MALY-DE 4 186667144 186667144 single base substitution C T intron_variant MALY-DE 4 186668036 186668036 single base substitution T A intron_variant MALY-DE 4 186671465 186671465 single base substitution C T intron_variant MALY-DE 4 186672250 186672250 single base substitution A G intron_variant MALY-DE 4 186675234 186675234 single base substitution A C downstream_gene_variant MALY-DE 4 186675234 186675234 single base substitution A C intron_variant MALY-DE 4 186681898 186681898 single base substitution A C intron_variant MALY-DE 4 186683621 186683621 single base substitution C T intron_variant MALY-DE 4 186683621 186683621 single base substitution C T upstream_gene_variant MALY-DE 4 186684901 186684901 single base substitution T C intron_variant MALY-DE 4 186684901 186684901 single base substitution T C upstream_gene_variant MALY-DE 4 186685130 186685130 insertion of <=200bp - T intron_variant MALY-DE 4 186685130 186685130 insertion of <=200bp - T upstream_gene_variant MALY-DE 4 186693783 186693783 single base substitution C T downstream_gene_variant MALY-DE 4 186693783 186693783 single base substitution C T exon_variant MALY-DE 4 186693783 186693783 single base substitution C T intron_variant MALY-DE 4 186701162 186701174 deletion of <=200bp TTTTTTTTTTTTT - intron_variant MALY-DE 4 186701162 186701174 deletion of <=200bp TTTTTTTTTTTTT - upstream_gene_variant MALY-DE 4 186702808 186702808 single base substitution G C intron_variant MALY-DE 4 186712739 186712739 single base substitution T C intron_variant MALY-DE 4 186716814 186716814 single base substitution T A intron_variant MALY-DE 4 186717453 186717453 single base substitution C T intron_variant MALY-DE 4 186719500 186719500 single base substitution A G intron_variant MALY-DE 4 186722535 186722535 single base substitution G A intron_variant MALY-DE 4 186724550 186724550 single base substitution C A intron_variant MALY-DE 4 186724937 186724944 deletion of <=200bp ATAAAAAG - intron_variant MALY-DE 4 186725281 186725281 single base substitution T C intron_variant MALY-DE 4 186731567 186731567 single base substitution A C intron_variant MALY-DE 4 186732755 186732755 single base substitution T C intron_variant MALY-DE 4 186732755 186732755 single base substitution T C upstream_gene_variant MALY-DE 4 186743152 186743152 single base substitution A G intron_variant MALY-DE 4 186747756 186747756 single base substitution C T intron_variant MALY-DE 4 186749097 186749097 insertion of <=200bp - ATT intron_variant MALY-DE 4 186749127 186749127 insertion of <=200bp - ACCA intron_variant MALY-DE 4 186752113 186752113 single base substitution T G intron_variant MALY-DE 4 186755786 186755786 single base substitution A G intron_variant MALY-DE 4 186759073 186759073 single base substitution C T intron_variant MALY-DE 4 186764290 186764290 single base substitution T G intron_variant MALY-DE 4 186766324 186766324 single base substitution C T intron_variant MALY-DE 4 186770033 186770033 single base substitution A C intron_variant MALY-DE 4 186771233 186771233 single base substitution T C intron_variant MALY-DE 4 186773548 186773548 single base substitution G T intron_variant MALY-DE 4 186775528 186775528 single base substitution A G intron_variant MALY-DE 4 186782458 186782458 single base substitution T G intron_variant MALY-DE 4 186782985 186782985 single base substitution T C intron_variant MALY-DE 4 186783290 186783291 deletion of <=200bp TG - intron_variant MALY-DE 4 186786098 186786098 single base substitution A G intron_variant MALY-DE 4 186786169 186786169 single base substitution G A intron_variant MALY-DE 4 186786910 186786910 single base substitution C T intron_variant MALY-DE 4 186787220 186787220 deletion of <=200bp A - intron_variant MALY-DE 4 186789331 186789331 single base substitution G A intron_variant MALY-DE 4 186789700 186789700 single base substitution C A intron_variant MALY-DE 4 186795322 186795322 single base substitution G A intron_variant MALY-DE 4 186796951 186796951 single base substitution T G intron_variant MALY-DE 4 186803115 186803115 single base substitution T C intron_variant MALY-DE 4 186803344 186803344 single base substitution A G intron_variant MALY-DE 4 186805267 186805267 single base substitution G A intron_variant MALY-DE 4 186810434 186810434 single base substitution G T intron_variant MALY-DE 4 186813708 186813708 single base substitution G A intron_variant MALY-DE 4 186815538 186815538 deletion of <=200bp A - intron_variant MALY-DE 4 186821946 186821947 deletion of <=200bp AG - intron_variant MALY-DE 4 186822065 186822065 single base substitution A C intron_variant MALY-DE 4 186822905 186822905 single base substitution A G intron_variant MALY-DE 4 186824921 186824921 single base substitution C T intron_variant MALY-DE 4 186827196 186827196 insertion of <=200bp - T intron_variant MALY-DE 4 186829049 186829049 single base substitution C G intron_variant MALY-DE 4 186831507 186831507 single base substitution G T intron_variant MALY-DE 4 186832115 186832115 single base substitution A T intron_variant MALY-DE 4 186834371 186834371 single base substitution C T intron_variant MALY-DE 4 186835392 186835392 single base substitution G A intron_variant MALY-DE 4 186845117 186845117 single base substitution C T intron_variant MALY-DE 4 186845374 186845374 single base substitution T G intron_variant MALY-DE 4 186849627 186849627 single base substitution G A intron_variant MALY-DE 4 186850429 186850429 single base substitution C T intron_variant MALY-DE 4 186852079 186852079 single base substitution T A intron_variant MALY-DE 4 186852962 186852962 single base substitution G C intron_variant MALY-DE 4 186859980 186859980 single base substitution C T intron_variant MALY-DE 4 186860672 186860672 single base substitution T C intron_variant MALY-DE 4 186860821 186860821 single base substitution C T intron_variant MALY-DE 4 186867481 186867481 single base substitution C T intron_variant MALY-DE 4 186867824 186867824 single base substitution C T intron_variant MALY-DE 4 186867825 186867825 single base substitution T C intron_variant MALY-DE 4 186870667 186870667 single base substitution C T intron_variant MALY-DE 4 186872881 186872881 single base substitution G T intron_variant MALY-DE 4 186877401 186877401 single base substitution G A 5_prime_UTR_variant MALY-DE 4 186877401 186877401 single base substitution G A exon_variant MALY-DE 4 186881933 186881933 single base substitution C T upstream_gene_variant MELA-AU 4 186501745 186501745 single base substitution G A downstream_gene_variant MELA-AU 4 186501821 186501821 single base substitution C T downstream_gene_variant MELA-AU 4 186502305 186502305 single base substitution G T downstream_gene_variant MELA-AU 4 186502829 186502829 single base substitution C T downstream_gene_variant MELA-AU 4 186503584 186503584 single base substitution C T downstream_gene_variant MELA-AU 4 186503723 186503723 single base substitution C T downstream_gene_variant MELA-AU 4 186504762 186504762 single base substitution G A downstream_gene_variant MELA-AU 4 186505206 186505206 single base substitution G A downstream_gene_variant MELA-AU 4 186505673 186505673 single base substitution G A downstream_gene_variant MELA-AU 4 186506397 186506397 single base substitution C T downstream_gene_variant MELA-AU 4 186506561 186506561 single base substitution T C downstream_gene_variant MELA-AU 4 186506606 186506606 single base substitution C T 3_prime_UTR_variant MELA-AU 4 186506606 186506606 single base substitution C T downstream_gene_variant MELA-AU 4 186506714 186506714 single base substitution G A 3_prime_UTR_variant MELA-AU 4 186506714 186506714 single base substitution G A downstream_gene_variant MELA-AU 4 186506938 186506938 single base substitution C T 3_prime_UTR_variant MELA-AU 4 186506938 186506938 single base substitution C T downstream_gene_variant MELA-AU 4 186508117 186508117 single base substitution T G 3_prime_UTR_variant MELA-AU 4 186508117 186508117 single base substitution T G downstream_gene_variant MELA-AU 4 186510732 186510732 single base substitution G A downstream_gene_variant MELA-AU 4 186510732 186510732 single base substitution G A intron_variant MELA-AU 4 186510817 186510817 single base substitution G T downstream_gene_variant MELA-AU 4 186510817 186510817 single base substitution G T intron_variant MELA-AU 4 186511320 186511320 single base substitution T G downstream_gene_variant MELA-AU 4 186511320 186511320 single base substitution T G intron_variant MELA-AU 4 186511320 186511320 single base substitution T G upstream_gene_variant MELA-AU 4 186512038 186512038 single base substitution G A downstream_gene_variant MELA-AU 4 186512038 186512038 single base substitution G A intron_variant MELA-AU 4 186512038 186512038 single base substitution G A upstream_gene_variant MELA-AU 4 186513237 186513237 single base substitution G A downstream_gene_variant MELA-AU 4 186513237 186513237 single base substitution G A intron_variant MELA-AU 4 186513237 186513237 single base substitution G A upstream_gene_variant MELA-AU 4 186514479 186514479 single base substitution C T downstream_gene_variant MELA-AU 4 186514479 186514479 single base substitution C T intron_variant MELA-AU 4 186514479 186514479 single base substitution C T upstream_gene_variant MELA-AU 4 186514861 186514861 single base substitution A G downstream_gene_variant MELA-AU 4 186514861 186514861 single base substitution A G intron_variant MELA-AU 4 186514861 186514861 single base substitution A G upstream_gene_variant MELA-AU 4 186515257 186515257 single base substitution A T intron_variant MELA-AU 4 186515257 186515257 single base substitution A T upstream_gene_variant MELA-AU 4 186515571 186515572 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186515571 186515572 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 186515779 186515779 single base substitution C T intron_variant MELA-AU 4 186515779 186515779 single base substitution C T upstream_gene_variant MELA-AU 4 186516022 186516022 single base substitution G C intron_variant MELA-AU 4 186516092 186516092 single base substitution C T intron_variant MELA-AU 4 186516239 186516239 single base substitution C G intron_variant MELA-AU 4 186517540 186517540 single base substitution A G intron_variant MELA-AU 4 186517759 186517759 single base substitution G A intron_variant MELA-AU 4 186521053 186521053 single base substitution G A intron_variant MELA-AU 4 186521586 186521586 single base substitution G A intron_variant MELA-AU 4 186521815 186521815 single base substitution G A intron_variant MELA-AU 4 186522001 186522001 single base substitution G A intron_variant MELA-AU 4 186522590 186522590 single base substitution G A intron_variant MELA-AU 4 186522718 186522718 single base substitution C T intron_variant MELA-AU 4 186522884 186522884 single base substitution G A intron_variant MELA-AU 4 186523011 186523011 single base substitution G A intron_variant MELA-AU 4 186524212 186524212 single base substitution A T downstream_gene_variant MELA-AU 4 186524212 186524212 single base substitution A T intron_variant MELA-AU 4 186524299 186524299 single base substitution C T downstream_gene_variant MELA-AU 4 186524299 186524299 single base substitution C T intron_variant MELA-AU 4 186524338 186524338 single base substitution G A downstream_gene_variant MELA-AU 4 186524338 186524338 single base substitution G A intron_variant MELA-AU 4 186524632 186524632 single base substitution T C downstream_gene_variant MELA-AU 4 186524632 186524632 single base substitution T C intron_variant MELA-AU 4 186525140 186525140 single base substitution G A downstream_gene_variant MELA-AU 4 186525140 186525140 single base substitution G A intron_variant MELA-AU 4 186525647 186525647 single base substitution G A downstream_gene_variant MELA-AU 4 186525647 186525647 single base substitution G A intron_variant MELA-AU 4 186525685 186525685 single base substitution T C downstream_gene_variant MELA-AU 4 186525685 186525685 single base substitution T C intron_variant MELA-AU 4 186525730 186525730 single base substitution T A downstream_gene_variant MELA-AU 4 186525730 186525730 single base substitution T A intron_variant MELA-AU 4 186525895 186525895 single base substitution C T downstream_gene_variant MELA-AU 4 186525895 186525895 single base substitution C T intron_variant MELA-AU 4 186526103 186526103 single base substitution G A downstream_gene_variant MELA-AU 4 186526103 186526103 single base substitution G A intron_variant MELA-AU 4 186526118 186526118 single base substitution G A downstream_gene_variant MELA-AU 4 186526118 186526118 single base substitution G A intron_variant MELA-AU 4 186526213 186526213 single base substitution G A downstream_gene_variant MELA-AU 4 186526213 186526213 single base substitution G A intron_variant MELA-AU 4 186526999 186526999 single base substitution G A downstream_gene_variant MELA-AU 4 186526999 186526999 single base substitution G A intron_variant MELA-AU 4 186527060 186527060 single base substitution C T downstream_gene_variant MELA-AU 4 186527060 186527060 single base substitution C T intron_variant MELA-AU 4 186527339 186527339 single base substitution T A downstream_gene_variant MELA-AU 4 186527339 186527339 single base substitution T A intron_variant MELA-AU 4 186527530 186527530 single base substitution G A downstream_gene_variant MELA-AU 4 186527530 186527530 single base substitution G A intron_variant MELA-AU 4 186527537 186527537 single base substitution G A downstream_gene_variant MELA-AU 4 186527537 186527537 single base substitution G A intron_variant MELA-AU 4 186527714 186527714 single base substitution C T downstream_gene_variant MELA-AU 4 186527714 186527714 single base substitution C T intron_variant MELA-AU 4 186528069 186528069 single base substitution G A downstream_gene_variant MELA-AU 4 186528069 186528069 single base substitution G A intron_variant MELA-AU 4 186528583 186528583 single base substitution G A intron_variant MELA-AU 4 186528586 186528586 single base substitution A G intron_variant MELA-AU 4 186529080 186529080 single base substitution C T intron_variant MELA-AU 4 186529653 186529653 single base substitution C T intron_variant MELA-AU 4 186529917 186529917 single base substitution G A intron_variant MELA-AU 4 186529982 186529982 single base substitution G A intron_variant MELA-AU 4 186530616 186530616 single base substitution C T intron_variant MELA-AU 4 186531320 186531320 single base substitution T C downstream_gene_variant MELA-AU 4 186531320 186531320 single base substitution T C intron_variant MELA-AU 4 186531576 186531576 single base substitution G A downstream_gene_variant MELA-AU 4 186531576 186531576 single base substitution G A intron_variant MELA-AU 4 186531608 186531608 single base substitution G A downstream_gene_variant MELA-AU 4 186531608 186531608 single base substitution G A intron_variant MELA-AU 4 186532131 186532131 single base substitution T C downstream_gene_variant MELA-AU 4 186532131 186532131 single base substitution T C intron_variant MELA-AU 4 186532980 186532980 single base substitution G A downstream_gene_variant MELA-AU 4 186532980 186532980 single base substitution G A exon_variant MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P1013L 3038C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P1113L 3338C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P557L 1670C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P574L 1721C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P579L 1736C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P604L 1811C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P644L 1931C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P737L 2210C>T MELA-AU 4 186532980 186532980 single base substitution G A missense_variant P917L 2750C>T MELA-AU 4 186533375 186533375 single base substitution T G downstream_gene_variant MELA-AU 4 186533375 186533375 single base substitution T G intron_variant MELA-AU 4 186533900 186533900 single base substitution T A downstream_gene_variant MELA-AU 4 186533900 186533900 single base substitution T A intron_variant MELA-AU 4 186534050 186534050 single base substitution C T downstream_gene_variant MELA-AU 4 186534050 186534050 single base substitution C T intron_variant MELA-AU 4 186534064 186534064 single base substitution C T downstream_gene_variant MELA-AU 4 186534064 186534064 single base substitution C T intron_variant MELA-AU 4 186534151 186534151 single base substitution C T downstream_gene_variant MELA-AU 4 186534151 186534151 single base substitution C T intron_variant MELA-AU 4 186534551 186534551 single base substitution C T downstream_gene_variant MELA-AU 4 186534551 186534551 single base substitution C T intron_variant MELA-AU 4 186534852 186534852 single base substitution C T downstream_gene_variant MELA-AU 4 186534852 186534852 single base substitution C T intron_variant MELA-AU 4 186535074 186535074 single base substitution G A downstream_gene_variant MELA-AU 4 186535074 186535074 single base substitution G A intron_variant MELA-AU 4 186535349 186535349 single base substitution C T downstream_gene_variant MELA-AU 4 186535349 186535349 single base substitution C T intron_variant MELA-AU 4 186535368 186535368 single base substitution C T downstream_gene_variant MELA-AU 4 186535368 186535368 single base substitution C T intron_variant MELA-AU 4 186535402 186535402 single base substitution T C downstream_gene_variant MELA-AU 4 186535402 186535402 single base substitution T C intron_variant MELA-AU 4 186535815 186535815 single base substitution G A downstream_gene_variant MELA-AU 4 186535815 186535815 single base substitution G A exon_variant MELA-AU 4 186535815 186535815 single base substitution G A intron_variant MELA-AU 4 186536271 186536271 single base substitution C T downstream_gene_variant MELA-AU 4 186536271 186536271 single base substitution C T exon_variant MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R243R 729G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R438R 1314G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R455R 1365G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R460R 1380G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R485R 1455G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R525R 1575G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R618R 1854G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R798R 2394G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R894R 2682G>A MELA-AU 4 186536271 186536271 single base substitution C T synonymous_variant R994R 2982G>A MELA-AU 4 186536317 186536317 single base substitution G A downstream_gene_variant MELA-AU 4 186536317 186536317 single base substitution G A exon_variant MELA-AU 4 186536317 186536317 single base substitution G A splice_region_variant MELA-AU 4 186536510 186536510 single base substitution G A downstream_gene_variant MELA-AU 4 186536510 186536510 single base substitution G A intron_variant MELA-AU 4 186536510 186536510 single base substitution G A upstream_gene_variant MELA-AU 4 186537154 186537154 single base substitution C T downstream_gene_variant MELA-AU 4 186537154 186537154 single base substitution C T intron_variant MELA-AU 4 186537154 186537154 single base substitution C T upstream_gene_variant MELA-AU 4 186537436 186537436 single base substitution G A downstream_gene_variant MELA-AU 4 186537436 186537436 single base substitution G A intron_variant MELA-AU 4 186537436 186537436 single base substitution G A upstream_gene_variant MELA-AU 4 186537715 186537715 single base substitution A G downstream_gene_variant MELA-AU 4 186537715 186537715 single base substitution A G intron_variant MELA-AU 4 186537715 186537715 single base substitution A G upstream_gene_variant MELA-AU 4 186538123 186538123 single base substitution G A downstream_gene_variant MELA-AU 4 186538123 186538123 single base substitution G A intron_variant MELA-AU 4 186538123 186538123 single base substitution G A upstream_gene_variant MELA-AU 4 186538547 186538547 single base substitution C T downstream_gene_variant MELA-AU 4 186538547 186538547 single base substitution C T intron_variant MELA-AU 4 186538547 186538547 single base substitution C T upstream_gene_variant MELA-AU 4 186539037 186539037 single base substitution C T downstream_gene_variant MELA-AU 4 186539037 186539037 single base substitution C T intron_variant MELA-AU 4 186539037 186539037 single base substitution C T upstream_gene_variant MELA-AU 4 186540178 186540178 single base substitution G A intron_variant MELA-AU 4 186540178 186540178 single base substitution G A upstream_gene_variant MELA-AU 4 186540463 186540463 single base substitution C T downstream_gene_variant MELA-AU 4 186540463 186540463 single base substitution C T intron_variant MELA-AU 4 186540463 186540463 single base substitution C T upstream_gene_variant MELA-AU 4 186540639 186540639 single base substitution C T downstream_gene_variant MELA-AU 4 186540639 186540639 single base substitution C T intron_variant MELA-AU 4 186540639 186540639 single base substitution C T upstream_gene_variant MELA-AU 4 186541082 186541082 single base substitution G A downstream_gene_variant MELA-AU 4 186541082 186541082 single base substitution G A intron_variant MELA-AU 4 186541082 186541082 single base substitution G A upstream_gene_variant MELA-AU 4 186541321 186541321 single base substitution G A downstream_gene_variant MELA-AU 4 186541321 186541321 single base substitution G A intron_variant MELA-AU 4 186541321 186541321 single base substitution G A upstream_gene_variant MELA-AU 4 186541366 186541366 single base substitution C T downstream_gene_variant MELA-AU 4 186541366 186541366 single base substitution C T intron_variant MELA-AU 4 186541366 186541366 single base substitution C T upstream_gene_variant MELA-AU 4 186541398 186541398 single base substitution C T downstream_gene_variant MELA-AU 4 186541398 186541398 single base substitution C T intron_variant MELA-AU 4 186541615 186541615 single base substitution A T downstream_gene_variant MELA-AU 4 186541615 186541615 single base substitution A T intron_variant MELA-AU 4 186541626 186541626 single base substitution C T downstream_gene_variant MELA-AU 4 186541626 186541626 single base substitution C T intron_variant MELA-AU 4 186541694 186541694 single base substitution G A downstream_gene_variant MELA-AU 4 186541694 186541694 single base substitution G A intron_variant MELA-AU 4 186541774 186541774 single base substitution G A downstream_gene_variant MELA-AU 4 186541774 186541774 single base substitution G A intron_variant MELA-AU 4 186541845 186541845 single base substitution C T downstream_gene_variant MELA-AU 4 186541845 186541845 single base substitution C T intron_variant MELA-AU 4 186542231 186542231 single base substitution A C downstream_gene_variant MELA-AU 4 186542231 186542231 single base substitution A C intron_variant MELA-AU 4 186543799 186543799 single base substitution G A downstream_gene_variant MELA-AU 4 186543799 186543799 single base substitution G A intron_variant MELA-AU 4 186543821 186543821 single base substitution C T downstream_gene_variant MELA-AU 4 186543821 186543821 single base substitution C T intron_variant MELA-AU 4 186544099 186544099 single base substitution G A downstream_gene_variant MELA-AU 4 186544099 186544099 single base substitution G A intron_variant MELA-AU 4 186544099 186544099 single base substitution G A synonymous_variant C728C 2184C>T MELA-AU 4 186544099 186544099 single base substitution G A synonymous_variant C824C 2472C>T MELA-AU 4 186544099 186544099 single base substitution G A synonymous_variant C924C 2772C>T MELA-AU 4 186544684 186544684 single base substitution G A downstream_gene_variant MELA-AU 4 186544684 186544684 single base substitution G A intron_variant MELA-AU 4 186544684 186544684 single base substitution G A synonymous_variant F533F 1599C>T MELA-AU 4 186544684 186544684 single base substitution G A synonymous_variant F629F 1887C>T MELA-AU 4 186544684 186544684 single base substitution G A synonymous_variant F729F 2187C>T MELA-AU 4 186544805 186544805 single base substitution G A downstream_gene_variant MELA-AU 4 186544805 186544805 single base substitution G A intron_variant MELA-AU 4 186544805 186544805 single base substitution G A missense_variant P493L 1478C>T MELA-AU 4 186544805 186544805 single base substitution G A missense_variant P589L 1766C>T MELA-AU 4 186544805 186544805 single base substitution G A missense_variant P689L 2066C>T MELA-AU 4 186544921 186544921 single base substitution G A downstream_gene_variant MELA-AU 4 186544921 186544921 single base substitution G A intron_variant MELA-AU 4 186544921 186544921 single base substitution G A synonymous_variant S454S 1362C>T MELA-AU 4 186544921 186544921 single base substitution G A synonymous_variant S550S 1650C>T MELA-AU 4 186544921 186544921 single base substitution G A synonymous_variant S650S 1950C>T MELA-AU 4 186544946 186544946 single base substitution C T downstream_gene_variant MELA-AU 4 186544946 186544946 single base substitution C T intron_variant MELA-AU 4 186544946 186544946 single base substitution C T missense_variant G446D 1337G>A MELA-AU 4 186544946 186544946 single base substitution C T missense_variant G542D 1625G>A MELA-AU 4 186544946 186544946 single base substitution C T missense_variant G642D 1925G>A MELA-AU 4 186545031 186545031 single base substitution C T downstream_gene_variant MELA-AU 4 186545031 186545031 single base substitution C T intron_variant MELA-AU 4 186545031 186545031 single base substitution C T missense_variant E418K 1252G>A MELA-AU 4 186545031 186545031 single base substitution C T missense_variant E514K 1540G>A MELA-AU 4 186545031 186545031 single base substitution C T missense_variant E614K 1840G>A MELA-AU 4 186545032 186545032 single base substitution G A downstream_gene_variant MELA-AU 4 186545032 186545032 single base substitution G A intron_variant MELA-AU 4 186545032 186545032 single base substitution G A synonymous_variant F417F 1251C>T MELA-AU 4 186545032 186545032 single base substitution G A synonymous_variant F513F 1539C>T MELA-AU 4 186545032 186545032 single base substitution G A synonymous_variant F613F 1839C>T MELA-AU 4 186545055 186545055 single base substitution C T downstream_gene_variant MELA-AU 4 186545055 186545055 single base substitution C T intron_variant MELA-AU 4 186545055 186545055 single base substitution C T missense_variant V410M 1228G>A MELA-AU 4 186545055 186545055 single base substitution C T missense_variant V506M 1516G>A MELA-AU 4 186545055 186545055 single base substitution C T missense_variant V606M 1816G>A MELA-AU 4 186545062 186545062 single base substitution C T downstream_gene_variant MELA-AU 4 186545062 186545062 single base substitution C T intron_variant MELA-AU 4 186545062 186545062 single base substitution C T synonymous_variant R407R 1221G>A MELA-AU 4 186545062 186545062 single base substitution C T synonymous_variant R503R 1509G>A MELA-AU 4 186545062 186545062 single base substitution C T synonymous_variant R603R 1809G>A MELA-AU 4 186545076 186545076 single base substitution C T downstream_gene_variant MELA-AU 4 186545076 186545076 single base substitution C T intron_variant MELA-AU 4 186545076 186545076 single base substitution C T missense_variant E403K 1207G>A MELA-AU 4 186545076 186545076 single base substitution C T missense_variant E499K 1495G>A MELA-AU 4 186545076 186545076 single base substitution C T missense_variant E599K 1795G>A MELA-AU 4 186545325 186545325 single base substitution C T downstream_gene_variant MELA-AU 4 186545325 186545325 single base substitution C T intron_variant MELA-AU 4 186545325 186545325 single base substitution C T missense_variant E320K 958G>A MELA-AU 4 186545325 186545325 single base substitution C T missense_variant E416K 1246G>A MELA-AU 4 186545325 186545325 single base substitution C T missense_variant E516K 1546G>A MELA-AU 4 186545403 186545403 single base substitution C T downstream_gene_variant MELA-AU 4 186545403 186545403 single base substitution C T exon_variant MELA-AU 4 186545403 186545403 single base substitution C T intron_variant MELA-AU 4 186545403 186545403 single base substitution C T missense_variant D294N 880G>A MELA-AU 4 186545403 186545403 single base substitution C T missense_variant D390N 1168G>A MELA-AU 4 186545403 186545403 single base substitution C T missense_variant D490N 1468G>A MELA-AU 4 186545693 186545693 single base substitution G A downstream_gene_variant MELA-AU 4 186545693 186545693 single base substitution G A intron_variant MELA-AU 4 186546095 186546095 single base substitution C T downstream_gene_variant MELA-AU 4 186546095 186546095 single base substitution C T intron_variant MELA-AU 4 186546101 186546101 single base substitution G A downstream_gene_variant MELA-AU 4 186546101 186546101 single base substitution G A intron_variant MELA-AU 4 186546297 186546297 single base substitution G A downstream_gene_variant MELA-AU 4 186546297 186546297 single base substitution G A intron_variant MELA-AU 4 186546979 186546979 single base substitution C T downstream_gene_variant MELA-AU 4 186546979 186546979 single base substitution C T intron_variant MELA-AU 4 186547198 186547198 single base substitution G A downstream_gene_variant MELA-AU 4 186547198 186547198 single base substitution G A intron_variant MELA-AU 4 186547447 186547447 single base substitution G A downstream_gene_variant MELA-AU 4 186547447 186547447 single base substitution G A intron_variant MELA-AU 4 186547911 186547911 single base substitution G A downstream_gene_variant MELA-AU 4 186547911 186547911 single base substitution G A intron_variant MELA-AU 4 186547986 186547986 single base substitution C T downstream_gene_variant MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D184N 550G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D251N 751G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D379N 1135G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D396N 1186G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D401N 1201G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D426N 1276G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D466N 1396G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant D559N 1675G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant G212S 634G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant G308S 922G>A MELA-AU 4 186547986 186547986 single base substitution C T missense_variant G408S 1222G>A MELA-AU 4 186547986 186547986 single base substitution C T splice_region_variant MELA-AU 4 186547986 186547986 single base substitution C T synonymous_variant ?253 MELA-AU 4 186548304 186548304 single base substitution G A downstream_gene_variant MELA-AU 4 186548304 186548304 single base substitution G A intron_variant MELA-AU 4 186548304 186548304 single base substitution G A upstream_gene_variant MELA-AU 4 186548583 186548583 single base substitution G A downstream_gene_variant MELA-AU 4 186548583 186548583 single base substitution G A intron_variant MELA-AU 4 186548583 186548583 single base substitution G A upstream_gene_variant MELA-AU 4 186548767 186548767 single base substitution C T downstream_gene_variant MELA-AU 4 186548767 186548767 single base substitution C T intron_variant MELA-AU 4 186548767 186548767 single base substitution C T upstream_gene_variant MELA-AU 4 186548822 186548822 single base substitution C T downstream_gene_variant MELA-AU 4 186548822 186548822 single base substitution C T intron_variant MELA-AU 4 186548822 186548822 single base substitution C T upstream_gene_variant MELA-AU 4 186549062 186549062 single base substitution C T downstream_gene_variant MELA-AU 4 186549062 186549062 single base substitution C T intron_variant MELA-AU 4 186549062 186549062 single base substitution C T upstream_gene_variant MELA-AU 4 186549084 186549084 single base substitution G A downstream_gene_variant MELA-AU 4 186549084 186549084 single base substitution G A intron_variant MELA-AU 4 186549084 186549084 single base substitution G A upstream_gene_variant MELA-AU 4 186549167 186549167 single base substitution C T downstream_gene_variant MELA-AU 4 186549167 186549167 single base substitution C T intron_variant MELA-AU 4 186549167 186549167 single base substitution C T upstream_gene_variant MELA-AU 4 186549170 186549170 single base substitution T A downstream_gene_variant MELA-AU 4 186549170 186549170 single base substitution T A intron_variant MELA-AU 4 186549170 186549170 single base substitution T A upstream_gene_variant MELA-AU 4 186549510 186549510 single base substitution G A downstream_gene_variant MELA-AU 4 186549510 186549510 single base substitution G A intron_variant MELA-AU 4 186549510 186549510 single base substitution G A upstream_gene_variant MELA-AU 4 186549739 186549739 single base substitution C T downstream_gene_variant MELA-AU 4 186549739 186549739 single base substitution C T intron_variant MELA-AU 4 186549739 186549739 single base substitution C T upstream_gene_variant MELA-AU 4 186550317 186550317 single base substitution G A downstream_gene_variant MELA-AU 4 186550317 186550317 single base substitution G A intron_variant MELA-AU 4 186550317 186550317 single base substitution G A upstream_gene_variant MELA-AU 4 186550597 186550597 single base substitution A T downstream_gene_variant MELA-AU 4 186550597 186550597 single base substitution A T intron_variant MELA-AU 4 186550597 186550597 single base substitution A T upstream_gene_variant MELA-AU 4 186550820 186550820 single base substitution G A downstream_gene_variant MELA-AU 4 186550820 186550820 single base substitution G A intron_variant MELA-AU 4 186550820 186550820 single base substitution G A upstream_gene_variant MELA-AU 4 186550931 186550931 single base substitution G T downstream_gene_variant MELA-AU 4 186550931 186550931 single base substitution G T intron_variant MELA-AU 4 186550931 186550931 single base substitution G T upstream_gene_variant MELA-AU 4 186551016 186551016 single base substitution G A downstream_gene_variant MELA-AU 4 186551016 186551016 single base substitution G A intron_variant MELA-AU 4 186551016 186551016 single base substitution G A upstream_gene_variant MELA-AU 4 186551061 186551061 single base substitution G A downstream_gene_variant MELA-AU 4 186551061 186551061 single base substitution G A intron_variant MELA-AU 4 186551061 186551061 single base substitution G A upstream_gene_variant MELA-AU 4 186551210 186551210 single base substitution G A downstream_gene_variant MELA-AU 4 186551210 186551210 single base substitution G A intron_variant MELA-AU 4 186551210 186551210 single base substitution G A upstream_gene_variant MELA-AU 4 186551454 186551454 single base substitution G A downstream_gene_variant MELA-AU 4 186551454 186551454 single base substitution G A intron_variant MELA-AU 4 186551454 186551454 single base substitution G A upstream_gene_variant MELA-AU 4 186551463 186551463 single base substitution G A downstream_gene_variant MELA-AU 4 186551463 186551463 single base substitution G A intron_variant MELA-AU 4 186551463 186551463 single base substitution G A upstream_gene_variant MELA-AU 4 186551534 186551534 single base substitution G A downstream_gene_variant MELA-AU 4 186551534 186551534 single base substitution G A intron_variant MELA-AU 4 186551534 186551534 single base substitution G A upstream_gene_variant MELA-AU 4 186552351 186552351 single base substitution G A intron_variant MELA-AU 4 186552351 186552351 single base substitution G A upstream_gene_variant MELA-AU 4 186552661 186552661 single base substitution A G intron_variant MELA-AU 4 186552661 186552661 single base substitution A G upstream_gene_variant MELA-AU 4 186552768 186552768 single base substitution G A intron_variant MELA-AU 4 186552768 186552768 single base substitution G A upstream_gene_variant MELA-AU 4 186552902 186552902 single base substitution G A intron_variant MELA-AU 4 186552902 186552902 single base substitution G A upstream_gene_variant MELA-AU 4 186553085 186553085 single base substitution C T intron_variant MELA-AU 4 186553142 186553142 single base substitution G A intron_variant MELA-AU 4 186553461 186553461 single base substitution C T intron_variant MELA-AU 4 186553676 186553676 single base substitution C T intron_variant MELA-AU 4 186553715 186553715 single base substitution C T intron_variant MELA-AU 4 186553747 186553747 single base substitution G A intron_variant MELA-AU 4 186553778 186553778 single base substitution C T intron_variant MELA-AU 4 186553814 186553814 single base substitution G A intron_variant MELA-AU 4 186554422 186554422 single base substitution T C intron_variant MELA-AU 4 186554739 186554739 single base substitution G A intron_variant MELA-AU 4 186554799 186554799 single base substitution C T intron_variant MELA-AU 4 186555355 186555355 single base substitution G A downstream_gene_variant MELA-AU 4 186555355 186555355 single base substitution G A intron_variant MELA-AU 4 186555669 186555669 single base substitution C T downstream_gene_variant MELA-AU 4 186555669 186555669 single base substitution C T intron_variant MELA-AU 4 186555698 186555698 single base substitution C T downstream_gene_variant MELA-AU 4 186555698 186555698 single base substitution C T intron_variant MELA-AU 4 186556237 186556237 single base substitution T G downstream_gene_variant MELA-AU 4 186556237 186556237 single base substitution T G intron_variant MELA-AU 4 186556278 186556278 single base substitution A C downstream_gene_variant MELA-AU 4 186556278 186556278 single base substitution A C intron_variant MELA-AU 4 186556299 186556299 single base substitution G A downstream_gene_variant MELA-AU 4 186556299 186556299 single base substitution G A intron_variant MELA-AU 4 186556548 186556548 single base substitution C T downstream_gene_variant MELA-AU 4 186556548 186556548 single base substitution C T exon_variant MELA-AU 4 186556548 186556548 single base substitution C T intron_variant MELA-AU 4 186556548 186556548 single base substitution C T synonymous_variant L303L 909G>A MELA-AU 4 186556548 186556548 single base substitution C T synonymous_variant L308L 924G>A MELA-AU 4 186556548 186556548 single base substitution C T synonymous_variant L333L 999G>A MELA-AU 4 186556548 186556548 single base substitution C T synonymous_variant L373L 1119G>A MELA-AU 4 186556548 186556548 single base substitution C T synonymous_variant L466L 1398G>A MELA-AU 4 186556548 186556548 single base substitution C T synonymous_variant L91L 273G>A MELA-AU 4 186556571 186556571 single base substitution T C downstream_gene_variant MELA-AU 4 186556571 186556571 single base substitution T C intron_variant MELA-AU 4 186556571 186556571 single base substitution T C splice_region_variant MELA-AU 4 186556602 186556602 single base substitution G A downstream_gene_variant MELA-AU 4 186556602 186556602 single base substitution G A intron_variant MELA-AU 4 186556888 186556888 single base substitution G A downstream_gene_variant MELA-AU 4 186556888 186556888 single base substitution G A intron_variant MELA-AU 4 186557049 186557049 single base substitution G T downstream_gene_variant MELA-AU 4 186557049 186557049 single base substitution G T intron_variant MELA-AU 4 186557376 186557376 single base substitution C T downstream_gene_variant MELA-AU 4 186557376 186557376 single base substitution C T intron_variant MELA-AU 4 186557473 186557473 single base substitution C T downstream_gene_variant MELA-AU 4 186557473 186557473 single base substitution C T intron_variant MELA-AU 4 186557600 186557600 single base substitution G A downstream_gene_variant MELA-AU 4 186557600 186557600 single base substitution G A intron_variant MELA-AU 4 186557906 186557906 single base substitution G A downstream_gene_variant MELA-AU 4 186557906 186557906 single base substitution G A intron_variant MELA-AU 4 186558054 186558054 single base substitution G A downstream_gene_variant MELA-AU 4 186558054 186558054 single base substitution G A intron_variant MELA-AU 4 186558070 186558070 single base substitution G A downstream_gene_variant MELA-AU 4 186558070 186558070 single base substitution G A intron_variant MELA-AU 4 186558176 186558176 single base substitution G A downstream_gene_variant MELA-AU 4 186558176 186558176 single base substitution G A intron_variant MELA-AU 4 186558755 186558755 single base substitution C T downstream_gene_variant MELA-AU 4 186558755 186558755 single base substitution C T intron_variant MELA-AU 4 186558778 186558778 single base substitution C T downstream_gene_variant MELA-AU 4 186558778 186558778 single base substitution C T intron_variant MELA-AU 4 186558943 186558943 single base substitution A C downstream_gene_variant MELA-AU 4 186558943 186558943 single base substitution A C intron_variant MELA-AU 4 186559334 186559334 single base substitution G A downstream_gene_variant MELA-AU 4 186559334 186559334 single base substitution G A intron_variant MELA-AU 4 186559564 186559564 single base substitution T G downstream_gene_variant MELA-AU 4 186559564 186559564 single base substitution T G intron_variant MELA-AU 4 186559635 186559635 single base substitution C A downstream_gene_variant MELA-AU 4 186559635 186559635 single base substitution C A intron_variant MELA-AU 4 186559636 186559636 single base substitution G A downstream_gene_variant MELA-AU 4 186559636 186559636 single base substitution G A intron_variant MELA-AU 4 186559940 186559941 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 186559940 186559941 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186559953 186559953 single base substitution C T downstream_gene_variant MELA-AU 4 186559953 186559953 single base substitution C T intron_variant MELA-AU 4 186560019 186560019 single base substitution G A downstream_gene_variant MELA-AU 4 186560019 186560019 single base substitution G A intron_variant MELA-AU 4 186560399 186560399 single base substitution C T intron_variant MELA-AU 4 186560505 186560505 single base substitution C T intron_variant MELA-AU 4 186561013 186561014 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186561679 186561679 single base substitution A T intron_variant MELA-AU 4 186562049 186562049 single base substitution G A downstream_gene_variant MELA-AU 4 186562049 186562049 single base substitution G A intron_variant MELA-AU 4 186562643 186562643 single base substitution A G downstream_gene_variant MELA-AU 4 186562643 186562643 single base substitution A G intron_variant MELA-AU 4 186563112 186563112 single base substitution C T downstream_gene_variant MELA-AU 4 186563112 186563112 single base substitution C T intron_variant MELA-AU 4 186563742 186563742 single base substitution G A downstream_gene_variant MELA-AU 4 186563742 186563742 single base substitution G A intron_variant MELA-AU 4 186563830 186563830 single base substitution G T downstream_gene_variant MELA-AU 4 186563830 186563830 single base substitution G T intron_variant MELA-AU 4 186563963 186563963 single base substitution G A downstream_gene_variant MELA-AU 4 186563963 186563963 single base substitution G A intron_variant MELA-AU 4 186564079 186564079 single base substitution G A downstream_gene_variant MELA-AU 4 186564079 186564079 single base substitution G A intron_variant MELA-AU 4 186564417 186564417 single base substitution G A downstream_gene_variant MELA-AU 4 186564417 186564417 single base substitution G A intron_variant MELA-AU 4 186564436 186564436 single base substitution G A downstream_gene_variant MELA-AU 4 186564436 186564436 single base substitution G A intron_variant MELA-AU 4 186565242 186565242 single base substitution G A downstream_gene_variant MELA-AU 4 186565242 186565242 single base substitution G A intron_variant MELA-AU 4 186565725 186565725 single base substitution C T downstream_gene_variant MELA-AU 4 186565725 186565725 single base substitution C T intron_variant MELA-AU 4 186566381 186566381 single base substitution G A downstream_gene_variant MELA-AU 4 186566381 186566381 single base substitution G A intron_variant MELA-AU 4 186566487 186566487 single base substitution G A downstream_gene_variant MELA-AU 4 186566487 186566487 single base substitution G A intron_variant MELA-AU 4 186566517 186566517 single base substitution T C downstream_gene_variant MELA-AU 4 186566517 186566517 single base substitution T C intron_variant MELA-AU 4 186566893 186566893 single base substitution G A downstream_gene_variant MELA-AU 4 186566893 186566893 single base substitution G A exon_variant MELA-AU 4 186566893 186566893 single base substitution G A intron_variant MELA-AU 4 186566975 186566975 single base substitution A T downstream_gene_variant MELA-AU 4 186566975 186566975 single base substitution A T exon_variant MELA-AU 4 186566975 186566975 single base substitution A T intron_variant MELA-AU 4 186567023 186567023 single base substitution G A downstream_gene_variant MELA-AU 4 186567023 186567023 single base substitution G A exon_variant MELA-AU 4 186567023 186567023 single base substitution G A intron_variant MELA-AU 4 186568571 186568571 single base substitution T A intron_variant MELA-AU 4 186568721 186568721 single base substitution G A intron_variant MELA-AU 4 186568782 186568782 single base substitution C T intron_variant MELA-AU 4 186569060 186569060 single base substitution G A downstream_gene_variant MELA-AU 4 186569060 186569060 single base substitution G A intron_variant MELA-AU 4 186569200 186569200 single base substitution C T downstream_gene_variant MELA-AU 4 186569200 186569200 single base substitution C T intron_variant MELA-AU 4 186570218 186570218 single base substitution T C downstream_gene_variant MELA-AU 4 186570218 186570218 single base substitution T C intron_variant MELA-AU 4 186570222 186570222 single base substitution G A downstream_gene_variant MELA-AU 4 186570222 186570222 single base substitution G A intron_variant MELA-AU 4 186570654 186570654 single base substitution G A downstream_gene_variant MELA-AU 4 186570654 186570654 single base substitution G A exon_variant MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P122L 365C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P179L 536C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P225L 674C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P248L 743C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P250L 749C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P265L 794C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P279L 836C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P358L 1073C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P36L 107C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P76L 227C>T MELA-AU 4 186570654 186570654 single base substitution G A missense_variant P83L 248C>T MELA-AU 4 186571147 186571147 single base substitution G A downstream_gene_variant MELA-AU 4 186571147 186571147 single base substitution G A intron_variant MELA-AU 4 186571147 186571147 single base substitution G A upstream_gene_variant MELA-AU 4 186571152 186571152 single base substitution T C downstream_gene_variant MELA-AU 4 186571152 186571152 single base substitution T C intron_variant MELA-AU 4 186571152 186571152 single base substitution T C upstream_gene_variant MELA-AU 4 186571410 186571410 single base substitution G A downstream_gene_variant MELA-AU 4 186571410 186571410 single base substitution G A intron_variant MELA-AU 4 186571410 186571410 single base substitution G A upstream_gene_variant MELA-AU 4 186571789 186571789 single base substitution T C downstream_gene_variant MELA-AU 4 186571789 186571789 single base substitution T C intron_variant MELA-AU 4 186571789 186571789 single base substitution T C upstream_gene_variant MELA-AU 4 186571885 186571885 single base substitution G A downstream_gene_variant MELA-AU 4 186571885 186571885 single base substitution G A intron_variant MELA-AU 4 186571885 186571885 single base substitution G A upstream_gene_variant MELA-AU 4 186572033 186572033 single base substitution G A downstream_gene_variant MELA-AU 4 186572033 186572033 single base substitution G A intron_variant MELA-AU 4 186572033 186572033 single base substitution G A upstream_gene_variant MELA-AU 4 186572123 186572123 single base substitution G A downstream_gene_variant MELA-AU 4 186572123 186572123 single base substitution G A intron_variant MELA-AU 4 186572123 186572123 single base substitution G A upstream_gene_variant MELA-AU 4 186572213 186572213 single base substitution G A downstream_gene_variant MELA-AU 4 186572213 186572213 single base substitution G A intron_variant MELA-AU 4 186572213 186572213 single base substitution G A upstream_gene_variant MELA-AU 4 186572328 186572328 single base substitution G A downstream_gene_variant MELA-AU 4 186572328 186572328 single base substitution G A intron_variant MELA-AU 4 186572328 186572328 single base substitution G A upstream_gene_variant MELA-AU 4 186572349 186572349 single base substitution C T downstream_gene_variant MELA-AU 4 186572349 186572349 single base substitution C T intron_variant MELA-AU 4 186572349 186572349 single base substitution C T upstream_gene_variant MELA-AU 4 186572360 186572360 single base substitution C G downstream_gene_variant MELA-AU 4 186572360 186572360 single base substitution C G intron_variant MELA-AU 4 186572360 186572360 single base substitution C G upstream_gene_variant MELA-AU 4 186572708 186572708 single base substitution G A downstream_gene_variant MELA-AU 4 186572708 186572708 single base substitution G A intron_variant MELA-AU 4 186572708 186572708 single base substitution G A upstream_gene_variant MELA-AU 4 186572929 186572929 single base substitution C T downstream_gene_variant MELA-AU 4 186572929 186572929 single base substitution C T intron_variant MELA-AU 4 186572929 186572929 single base substitution C T upstream_gene_variant MELA-AU 4 186573095 186573095 single base substitution C T downstream_gene_variant MELA-AU 4 186573095 186573095 single base substitution C T intron_variant MELA-AU 4 186573095 186573095 single base substitution C T upstream_gene_variant MELA-AU 4 186573381 186573381 single base substitution A G downstream_gene_variant MELA-AU 4 186573381 186573381 single base substitution A G intron_variant MELA-AU 4 186573381 186573381 single base substitution A G upstream_gene_variant MELA-AU 4 186573708 186573708 single base substitution G A downstream_gene_variant MELA-AU 4 186573708 186573708 single base substitution G A intron_variant MELA-AU 4 186573708 186573708 single base substitution G A upstream_gene_variant MELA-AU 4 186574419 186574419 single base substitution C T downstream_gene_variant MELA-AU 4 186574419 186574419 single base substitution C T intron_variant MELA-AU 4 186574419 186574419 single base substitution C T upstream_gene_variant MELA-AU 4 186574529 186574529 single base substitution C T downstream_gene_variant MELA-AU 4 186574529 186574529 single base substitution C T intron_variant MELA-AU 4 186574529 186574529 single base substitution C T upstream_gene_variant MELA-AU 4 186574556 186574556 single base substitution G A downstream_gene_variant MELA-AU 4 186574556 186574556 single base substitution G A intron_variant MELA-AU 4 186574556 186574556 single base substitution G A upstream_gene_variant MELA-AU 4 186574591 186574591 single base substitution T G downstream_gene_variant MELA-AU 4 186574591 186574591 single base substitution T G intron_variant MELA-AU 4 186574591 186574591 single base substitution T G upstream_gene_variant MELA-AU 4 186574659 186574659 single base substitution G A downstream_gene_variant MELA-AU 4 186574659 186574659 single base substitution G A intron_variant MELA-AU 4 186574659 186574659 single base substitution G A upstream_gene_variant MELA-AU 4 186574687 186574687 single base substitution G T downstream_gene_variant MELA-AU 4 186574687 186574687 single base substitution G T intron_variant MELA-AU 4 186574687 186574687 single base substitution G T upstream_gene_variant MELA-AU 4 186574830 186574830 single base substitution G A downstream_gene_variant MELA-AU 4 186574830 186574830 single base substitution G A intron_variant MELA-AU 4 186574830 186574830 single base substitution G A upstream_gene_variant MELA-AU 4 186575302 186575302 single base substitution C T downstream_gene_variant MELA-AU 4 186575302 186575302 single base substitution C T intron_variant MELA-AU 4 186575302 186575302 single base substitution C T upstream_gene_variant MELA-AU 4 186575466 186575466 single base substitution G A downstream_gene_variant MELA-AU 4 186575466 186575466 single base substitution G A intron_variant MELA-AU 4 186575466 186575466 single base substitution G A upstream_gene_variant MELA-AU 4 186575496 186575496 single base substitution C T downstream_gene_variant MELA-AU 4 186575496 186575496 single base substitution C T intron_variant MELA-AU 4 186575496 186575496 single base substitution C T upstream_gene_variant MELA-AU 4 186575518 186575518 single base substitution G A downstream_gene_variant MELA-AU 4 186575518 186575518 single base substitution G A intron_variant MELA-AU 4 186575518 186575518 single base substitution G A upstream_gene_variant MELA-AU 4 186575578 186575578 single base substitution A T downstream_gene_variant MELA-AU 4 186575578 186575578 single base substitution A T intron_variant MELA-AU 4 186575578 186575578 single base substitution A T upstream_gene_variant MELA-AU 4 186575993 186575993 single base substitution G A downstream_gene_variant MELA-AU 4 186575993 186575993 single base substitution G A intron_variant MELA-AU 4 186575993 186575993 single base substitution G A upstream_gene_variant MELA-AU 4 186576869 186576869 single base substitution G C downstream_gene_variant MELA-AU 4 186576869 186576869 single base substitution G C intron_variant MELA-AU 4 186576869 186576869 single base substitution G C upstream_gene_variant MELA-AU 4 186577226 186577226 single base substitution G A downstream_gene_variant MELA-AU 4 186577226 186577226 single base substitution G A intron_variant MELA-AU 4 186577226 186577226 single base substitution G A upstream_gene_variant MELA-AU 4 186577602 186577602 single base substitution T C downstream_gene_variant MELA-AU 4 186577602 186577602 single base substitution T C intron_variant MELA-AU 4 186577602 186577602 single base substitution T C upstream_gene_variant MELA-AU 4 186578461 186578461 single base substitution G A downstream_gene_variant MELA-AU 4 186578461 186578461 single base substitution G A intron_variant MELA-AU 4 186578461 186578461 single base substitution G A upstream_gene_variant MELA-AU 4 186578479 186578479 single base substitution C T downstream_gene_variant MELA-AU 4 186578479 186578479 single base substitution C T intron_variant MELA-AU 4 186578479 186578479 single base substitution C T upstream_gene_variant MELA-AU 4 186578679 186578679 single base substitution G A downstream_gene_variant MELA-AU 4 186578679 186578679 single base substitution G A exon_variant MELA-AU 4 186578679 186578679 single base substitution G A stop_gained R102* 304C>T MELA-AU 4 186578679 186578679 single base substitution G A stop_gained R125* 373C>T MELA-AU 4 186578679 186578679 single base substitution G A stop_gained R142* 424C>T MELA-AU 4 186578679 186578679 single base substitution G A stop_gained R156* 466C>T MELA-AU 4 186578679 186578679 single base substitution G A stop_gained R235* 703C>T MELA-AU 4 186578679 186578679 single base substitution G A stop_gained R56* 166C>T MELA-AU 4 186578679 186578679 single base substitution G A synonymous_variant ?56 MELA-AU 4 186578679 186578679 single base substitution G A upstream_gene_variant MELA-AU 4 186579234 186579234 single base substitution A C downstream_gene_variant MELA-AU 4 186579234 186579234 single base substitution A C intron_variant MELA-AU 4 186579234 186579234 single base substitution A C upstream_gene_variant MELA-AU 4 186579315 186579315 single base substitution C T downstream_gene_variant MELA-AU 4 186579315 186579315 single base substitution C T intron_variant MELA-AU 4 186579315 186579315 single base substitution C T upstream_gene_variant MELA-AU 4 186579611 186579611 single base substitution A T downstream_gene_variant MELA-AU 4 186579611 186579611 single base substitution A T intron_variant MELA-AU 4 186579611 186579611 single base substitution A T upstream_gene_variant MELA-AU 4 186579915 186579915 single base substitution A G downstream_gene_variant MELA-AU 4 186579915 186579915 single base substitution A G intron_variant MELA-AU 4 186579915 186579915 single base substitution A G upstream_gene_variant MELA-AU 4 186581122 186581122 single base substitution T G downstream_gene_variant MELA-AU 4 186581122 186581122 single base substitution T G intron_variant MELA-AU 4 186581122 186581122 single base substitution T G upstream_gene_variant MELA-AU 4 186581230 186581230 single base substitution G A downstream_gene_variant MELA-AU 4 186581230 186581230 single base substitution G A intron_variant MELA-AU 4 186581230 186581230 single base substitution G A upstream_gene_variant MELA-AU 4 186582176 186582176 single base substitution C T downstream_gene_variant MELA-AU 4 186582176 186582176 single base substitution C T intron_variant MELA-AU 4 186582176 186582176 single base substitution C T upstream_gene_variant MELA-AU 4 186582413 186582413 single base substitution G A downstream_gene_variant MELA-AU 4 186582413 186582413 single base substitution G A intron_variant MELA-AU 4 186582413 186582413 single base substitution G A upstream_gene_variant MELA-AU 4 186582422 186582422 single base substitution T G downstream_gene_variant MELA-AU 4 186582422 186582422 single base substitution T G intron_variant MELA-AU 4 186582422 186582422 single base substitution T G upstream_gene_variant MELA-AU 4 186582445 186582445 single base substitution A G downstream_gene_variant MELA-AU 4 186582445 186582445 single base substitution A G intron_variant MELA-AU 4 186582445 186582445 single base substitution A G upstream_gene_variant MELA-AU 4 186582659 186582659 single base substitution G A downstream_gene_variant MELA-AU 4 186582659 186582659 single base substitution G A intron_variant MELA-AU 4 186582659 186582659 single base substitution G A upstream_gene_variant MELA-AU 4 186582819 186582819 single base substitution C T downstream_gene_variant MELA-AU 4 186582819 186582819 single base substitution C T intron_variant MELA-AU 4 186582819 186582819 single base substitution C T upstream_gene_variant MELA-AU 4 186583058 186583058 single base substitution G A downstream_gene_variant MELA-AU 4 186583058 186583058 single base substitution G A intron_variant MELA-AU 4 186583058 186583058 single base substitution G A upstream_gene_variant MELA-AU 4 186583475 186583475 single base substitution G A downstream_gene_variant MELA-AU 4 186583475 186583475 single base substitution G A intron_variant MELA-AU 4 186583475 186583475 single base substitution G A upstream_gene_variant MELA-AU 4 186583992 186583992 single base substitution C T downstream_gene_variant MELA-AU 4 186583992 186583992 single base substitution C T intron_variant MELA-AU 4 186584064 186584064 single base substitution C T downstream_gene_variant MELA-AU 4 186584064 186584064 single base substitution C T intron_variant MELA-AU 4 186584206 186584206 single base substitution G A downstream_gene_variant MELA-AU 4 186584206 186584206 single base substitution G A intron_variant MELA-AU 4 186584446 186584446 single base substitution C T downstream_gene_variant MELA-AU 4 186584446 186584446 single base substitution C T intron_variant MELA-AU 4 186584772 186584772 single base substitution G A downstream_gene_variant MELA-AU 4 186584772 186584772 single base substitution G A intron_variant MELA-AU 4 186584787 186584787 single base substitution C T downstream_gene_variant MELA-AU 4 186584787 186584787 single base substitution C T intron_variant MELA-AU 4 186584968 186584968 single base substitution G A downstream_gene_variant MELA-AU 4 186584968 186584968 single base substitution G A intron_variant MELA-AU 4 186585143 186585143 single base substitution G A downstream_gene_variant MELA-AU 4 186585143 186585143 single base substitution G A intron_variant MELA-AU 4 186585496 186585496 single base substitution C T downstream_gene_variant MELA-AU 4 186585496 186585496 single base substitution C T intron_variant MELA-AU 4 186586150 186586150 single base substitution C T downstream_gene_variant MELA-AU 4 186586150 186586150 single base substitution C T intron_variant MELA-AU 4 186586316 186586316 single base substitution G A downstream_gene_variant MELA-AU 4 186586316 186586316 single base substitution G A intron_variant MELA-AU 4 186586407 186586407 single base substitution G A downstream_gene_variant MELA-AU 4 186586407 186586407 single base substitution G A intron_variant MELA-AU 4 186587143 186587143 single base substitution G A downstream_gene_variant MELA-AU 4 186587143 186587143 single base substitution G A intron_variant MELA-AU 4 186587631 186587631 single base substitution G A intron_variant MELA-AU 4 186587875 186587875 single base substitution C T intron_variant MELA-AU 4 186587907 186587907 single base substitution C T intron_variant MELA-AU 4 186587980 186587980 single base substitution G A intron_variant MELA-AU 4 186588151 186588151 single base substitution G A intron_variant MELA-AU 4 186588189 186588189 single base substitution C T intron_variant MELA-AU 4 186588194 186588194 single base substitution G A intron_variant MELA-AU 4 186588516 186588516 single base substitution T C intron_variant MELA-AU 4 186588615 186588615 single base substitution C T intron_variant MELA-AU 4 186588703 186588703 single base substitution G A intron_variant MELA-AU 4 186588752 186588752 single base substitution C T intron_variant MELA-AU 4 186588857 186588857 single base substitution T C intron_variant MELA-AU 4 186589172 186589172 single base substitution G A intron_variant MELA-AU 4 186589286 186589286 single base substitution A C intron_variant MELA-AU 4 186589495 186589495 single base substitution G A intron_variant MELA-AU 4 186589516 186589516 single base substitution G A intron_variant MELA-AU 4 186589703 186589703 single base substitution C T intron_variant MELA-AU 4 186589715 186589715 single base substitution G A intron_variant MELA-AU 4 186589859 186589859 single base substitution G A intron_variant MELA-AU 4 186590282 186590282 single base substitution G A intron_variant MELA-AU 4 186590466 186590466 single base substitution C T intron_variant MELA-AU 4 186590513 186590513 single base substitution C T intron_variant MELA-AU 4 186591379 186591379 single base substitution A T intron_variant MELA-AU 4 186591518 186591518 single base substitution G A intron_variant MELA-AU 4 186591532 186591533 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186591843 186591843 single base substitution G A intron_variant MELA-AU 4 186591883 186591883 single base substitution C T intron_variant MELA-AU 4 186591891 186591891 single base substitution G A intron_variant MELA-AU 4 186592377 186592377 single base substitution G A intron_variant MELA-AU 4 186592719 186592719 single base substitution G A intron_variant MELA-AU 4 186592788 186592788 single base substitution G A intron_variant MELA-AU 4 186592854 186592854 single base substitution G A intron_variant MELA-AU 4 186593283 186593283 single base substitution T C intron_variant MELA-AU 4 186593382 186593382 single base substitution A T intron_variant MELA-AU 4 186593772 186593772 single base substitution G A downstream_gene_variant MELA-AU 4 186593772 186593772 single base substitution G A intron_variant MELA-AU 4 186593920 186593920 single base substitution G A downstream_gene_variant MELA-AU 4 186593920 186593920 single base substitution G A intron_variant MELA-AU 4 186594274 186594274 single base substitution G A downstream_gene_variant MELA-AU 4 186594274 186594274 single base substitution G A intron_variant MELA-AU 4 186594322 186594322 single base substitution G A downstream_gene_variant MELA-AU 4 186594322 186594322 single base substitution G A intron_variant MELA-AU 4 186594870 186594870 single base substitution G A downstream_gene_variant MELA-AU 4 186594870 186594870 single base substitution G A intron_variant MELA-AU 4 186595122 186595122 single base substitution C T downstream_gene_variant MELA-AU 4 186595122 186595122 single base substitution C T intron_variant MELA-AU 4 186595662 186595662 single base substitution C T downstream_gene_variant MELA-AU 4 186595662 186595662 single base substitution C T intron_variant MELA-AU 4 186595879 186595879 single base substitution G A downstream_gene_variant MELA-AU 4 186595879 186595879 single base substitution G A intron_variant MELA-AU 4 186595928 186595928 single base substitution C A downstream_gene_variant MELA-AU 4 186595928 186595928 single base substitution C A intron_variant MELA-AU 4 186596375 186596375 single base substitution G A downstream_gene_variant MELA-AU 4 186596375 186596375 single base substitution G A intron_variant MELA-AU 4 186596453 186596453 single base substitution C A downstream_gene_variant MELA-AU 4 186596453 186596453 single base substitution C A intron_variant MELA-AU 4 186596540 186596540 single base substitution C T downstream_gene_variant MELA-AU 4 186596540 186596540 single base substitution C T intron_variant MELA-AU 4 186596592 186596592 deletion of <=200bp G - downstream_gene_variant MELA-AU 4 186596592 186596592 deletion of <=200bp G - intron_variant MELA-AU 4 186596725 186596725 single base substitution G A downstream_gene_variant MELA-AU 4 186596725 186596725 single base substitution G A intron_variant MELA-AU 4 186596823 186596823 single base substitution A G downstream_gene_variant MELA-AU 4 186596823 186596823 single base substitution A G intron_variant MELA-AU 4 186596990 186596990 single base substitution G A downstream_gene_variant MELA-AU 4 186596990 186596990 single base substitution G A intron_variant MELA-AU 4 186597015 186597015 single base substitution G A downstream_gene_variant MELA-AU 4 186597015 186597015 single base substitution G A intron_variant MELA-AU 4 186597238 186597238 single base substitution C T downstream_gene_variant MELA-AU 4 186597238 186597238 single base substitution C T intron_variant MELA-AU 4 186597576 186597576 single base substitution G A downstream_gene_variant MELA-AU 4 186597576 186597576 single base substitution G A intron_variant MELA-AU 4 186597635 186597635 single base substitution G A downstream_gene_variant MELA-AU 4 186597635 186597635 single base substitution G A intron_variant MELA-AU 4 186598285 186598285 single base substitution G A downstream_gene_variant MELA-AU 4 186598285 186598285 single base substitution G A intron_variant MELA-AU 4 186598285 186598285 single base substitution G A missense_variant P120S 358C>T MELA-AU 4 186598303 186598303 single base substitution G A downstream_gene_variant MELA-AU 4 186598303 186598303 single base substitution G A intron_variant MELA-AU 4 186598303 186598303 single base substitution G A missense_variant L114F 340C>T MELA-AU 4 186599053 186599053 single base substitution A G downstream_gene_variant MELA-AU 4 186599053 186599053 single base substitution A G intron_variant MELA-AU 4 186599437 186599437 single base substitution G C downstream_gene_variant MELA-AU 4 186599437 186599437 single base substitution G C intron_variant MELA-AU 4 186599926 186599926 single base substitution T A intron_variant MELA-AU 4 186600121 186600121 single base substitution G A intron_variant MELA-AU 4 186600220 186600220 single base substitution A T intron_variant MELA-AU 4 186600710 186600710 single base substitution G A intron_variant MELA-AU 4 186600867 186600867 single base substitution C T intron_variant MELA-AU 4 186600910 186600910 single base substitution C T intron_variant MELA-AU 4 186601204 186601204 single base substitution G A downstream_gene_variant MELA-AU 4 186601204 186601204 single base substitution G A intron_variant MELA-AU 4 186601596 186601596 single base substitution G A downstream_gene_variant MELA-AU 4 186601596 186601596 single base substitution G A intron_variant MELA-AU 4 186601668 186601668 single base substitution G A downstream_gene_variant MELA-AU 4 186601668 186601668 single base substitution G A intron_variant MELA-AU 4 186601961 186601961 single base substitution G A downstream_gene_variant MELA-AU 4 186601961 186601961 single base substitution G A intron_variant MELA-AU 4 186602100 186602100 single base substitution C T downstream_gene_variant MELA-AU 4 186602100 186602100 single base substitution C T intron_variant MELA-AU 4 186602524 186602524 single base substitution G A downstream_gene_variant MELA-AU 4 186602524 186602524 single base substitution G A intron_variant MELA-AU 4 186602768 186602768 single base substitution C T downstream_gene_variant MELA-AU 4 186602768 186602768 single base substitution C T intron_variant MELA-AU 4 186602773 186602773 single base substitution C T downstream_gene_variant MELA-AU 4 186602773 186602773 single base substitution C T intron_variant MELA-AU 4 186602946 186602946 single base substitution C T downstream_gene_variant MELA-AU 4 186602946 186602946 single base substitution C T intron_variant MELA-AU 4 186603267 186603267 single base substitution C T downstream_gene_variant MELA-AU 4 186603267 186603267 single base substitution C T intron_variant MELA-AU 4 186603453 186603453 single base substitution C T downstream_gene_variant MELA-AU 4 186603453 186603453 single base substitution C T intron_variant MELA-AU 4 186603574 186603574 single base substitution G A downstream_gene_variant MELA-AU 4 186603574 186603574 single base substitution G A intron_variant MELA-AU 4 186603667 186603667 single base substitution G A downstream_gene_variant MELA-AU 4 186603667 186603667 single base substitution G A intron_variant MELA-AU 4 186603801 186603801 single base substitution G C downstream_gene_variant MELA-AU 4 186603801 186603801 single base substitution G C intron_variant MELA-AU 4 186603813 186603813 single base substitution G A downstream_gene_variant MELA-AU 4 186603813 186603813 single base substitution G A intron_variant MELA-AU 4 186604514 186604514 single base substitution G A downstream_gene_variant MELA-AU 4 186604514 186604514 single base substitution G A intron_variant MELA-AU 4 186604546 186604546 single base substitution T C downstream_gene_variant MELA-AU 4 186604546 186604546 single base substitution T C intron_variant MELA-AU 4 186604879 186604879 single base substitution C T downstream_gene_variant MELA-AU 4 186604879 186604879 single base substitution C T intron_variant MELA-AU 4 186604901 186604901 single base substitution G A downstream_gene_variant MELA-AU 4 186604901 186604901 single base substitution G A intron_variant MELA-AU 4 186605083 186605083 single base substitution C T downstream_gene_variant MELA-AU 4 186605083 186605083 single base substitution C T intron_variant MELA-AU 4 186605163 186605163 single base substitution G A downstream_gene_variant MELA-AU 4 186605163 186605163 single base substitution G A intron_variant MELA-AU 4 186605205 186605205 single base substitution G A downstream_gene_variant MELA-AU 4 186605205 186605205 single base substitution G A intron_variant MELA-AU 4 186605383 186605383 single base substitution G A downstream_gene_variant MELA-AU 4 186605383 186605383 single base substitution G A intron_variant MELA-AU 4 186605821 186605821 single base substitution C T downstream_gene_variant MELA-AU 4 186605821 186605821 single base substitution C T intron_variant MELA-AU 4 186606112 186606112 single base substitution G A intron_variant MELA-AU 4 186606176 186606176 single base substitution G A intron_variant MELA-AU 4 186606199 186606199 single base substitution G A intron_variant MELA-AU 4 186606200 186606200 single base substitution G A intron_variant MELA-AU 4 186606319 186606319 single base substitution T A intron_variant MELA-AU 4 186607041 186607041 single base substitution G A intron_variant MELA-AU 4 186607109 186607109 single base substitution G A intron_variant MELA-AU 4 186607970 186607970 single base substitution G A intron_variant MELA-AU 4 186608600 186608600 single base substitution T A intron_variant MELA-AU 4 186608964 186608964 single base substitution G A intron_variant MELA-AU 4 186609060 186609060 single base substitution C T intron_variant MELA-AU 4 186609721 186609721 single base substitution G A intron_variant MELA-AU 4 186610083 186610083 single base substitution C T intron_variant MELA-AU 4 186610354 186610354 single base substitution G A intron_variant MELA-AU 4 186610436 186610436 single base substitution G A intron_variant MELA-AU 4 186610743 186610744 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186610819 186610819 single base substitution G A intron_variant MELA-AU 4 186611164 186611164 single base substitution T G intron_variant MELA-AU 4 186611396 186611396 single base substitution G A intron_variant MELA-AU 4 186611682 186611682 single base substitution G A intron_variant MELA-AU 4 186611765 186611765 single base substitution C T intron_variant MELA-AU 4 186611765 186611765 single base substitution C T splice_region_variant MELA-AU 4 186611765 186611765 single base substitution C T upstream_gene_variant MELA-AU 4 186612019 186612019 single base substitution G A intron_variant MELA-AU 4 186612019 186612019 single base substitution G A upstream_gene_variant MELA-AU 4 186612350 186612350 single base substitution G A intron_variant MELA-AU 4 186612350 186612350 single base substitution G A upstream_gene_variant MELA-AU 4 186612888 186612888 single base substitution G A intron_variant MELA-AU 4 186612888 186612888 single base substitution G A upstream_gene_variant MELA-AU 4 186612967 186612967 single base substitution C T intron_variant MELA-AU 4 186612967 186612967 single base substitution C T upstream_gene_variant MELA-AU 4 186613021 186613021 single base substitution C T intron_variant MELA-AU 4 186613021 186613021 single base substitution C T upstream_gene_variant MELA-AU 4 186613374 186613374 single base substitution C T intron_variant MELA-AU 4 186613374 186613374 single base substitution C T upstream_gene_variant MELA-AU 4 186613465 186613465 single base substitution G A intron_variant MELA-AU 4 186613465 186613465 single base substitution G A upstream_gene_variant MELA-AU 4 186613492 186613492 single base substitution C T intron_variant MELA-AU 4 186613492 186613492 single base substitution C T upstream_gene_variant MELA-AU 4 186613868 186613868 single base substitution C T intron_variant MELA-AU 4 186613868 186613868 single base substitution C T upstream_gene_variant MELA-AU 4 186614432 186614432 single base substitution A T intron_variant MELA-AU 4 186614432 186614432 single base substitution A T upstream_gene_variant MELA-AU 4 186614708 186614709 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186614708 186614709 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 186614871 186614871 single base substitution G A intron_variant MELA-AU 4 186614871 186614871 single base substitution G A upstream_gene_variant MELA-AU 4 186615118 186615119 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186615118 186615119 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 186615184 186615184 single base substitution C T intron_variant MELA-AU 4 186615184 186615184 single base substitution C T upstream_gene_variant MELA-AU 4 186615580 186615580 single base substitution C T intron_variant MELA-AU 4 186615580 186615580 single base substitution C T upstream_gene_variant MELA-AU 4 186616064 186616064 single base substitution T C intron_variant MELA-AU 4 186616064 186616064 single base substitution T C upstream_gene_variant MELA-AU 4 186616163 186616163 single base substitution C T intron_variant MELA-AU 4 186616163 186616163 single base substitution C T upstream_gene_variant MELA-AU 4 186616292 186616292 single base substitution C T intron_variant MELA-AU 4 186616292 186616292 single base substitution C T upstream_gene_variant MELA-AU 4 186617389 186617389 single base substitution C T intron_variant MELA-AU 4 186617566 186617566 single base substitution T A intron_variant MELA-AU 4 186618013 186618013 single base substitution G A intron_variant MELA-AU 4 186618026 186618026 single base substitution T C intron_variant MELA-AU 4 186618208 186618208 single base substitution G A intron_variant MELA-AU 4 186618603 186618603 single base substitution C T intron_variant MELA-AU 4 186618678 186618678 single base substitution C T intron_variant MELA-AU 4 186618741 186618741 single base substitution G A intron_variant MELA-AU 4 186618771 186618771 single base substitution C T intron_variant MELA-AU 4 186618823 186618823 single base substitution G A intron_variant MELA-AU 4 186619513 186619513 single base substitution C T intron_variant MELA-AU 4 186619655 186619655 single base substitution G A intron_variant MELA-AU 4 186619745 186619745 single base substitution A G intron_variant MELA-AU 4 186619756 186619756 single base substitution A G intron_variant MELA-AU 4 186620356 186620356 single base substitution G A intron_variant MELA-AU 4 186620575 186620575 single base substitution G A intron_variant MELA-AU 4 186620630 186620630 single base substitution G A intron_variant MELA-AU 4 186620710 186620710 single base substitution G A intron_variant MELA-AU 4 186621248 186621248 single base substitution G A intron_variant MELA-AU 4 186621320 186621320 single base substitution G A intron_variant MELA-AU 4 186621630 186621630 single base substitution C T intron_variant MELA-AU 4 186621657 186621658 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186621806 186621806 single base substitution G A intron_variant MELA-AU 4 186621861 186621862 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186622309 186622309 single base substitution T C intron_variant MELA-AU 4 186622352 186622352 single base substitution G C intron_variant MELA-AU 4 186622453 186622453 single base substitution C T intron_variant MELA-AU 4 186623005 186623005 single base substitution A G intron_variant MELA-AU 4 186623280 186623280 single base substitution C T intron_variant MELA-AU 4 186623597 186623597 single base substitution G A intron_variant MELA-AU 4 186623778 186623778 single base substitution G A intron_variant MELA-AU 4 186623788 186623788 single base substitution G A intron_variant MELA-AU 4 186624357 186624357 single base substitution C T intron_variant MELA-AU 4 186625337 186625337 single base substitution G A intron_variant MELA-AU 4 186625390 186625390 single base substitution C T intron_variant MELA-AU 4 186625786 186625786 single base substitution T G intron_variant MELA-AU 4 186625903 186625903 single base substitution G A intron_variant MELA-AU 4 186626011 186626011 single base substitution G A intron_variant MELA-AU 4 186626123 186626123 single base substitution G A intron_variant MELA-AU 4 186626266 186626266 single base substitution C T intron_variant MELA-AU 4 186626343 186626343 single base substitution G A intron_variant MELA-AU 4 186626735 186626735 single base substitution C T intron_variant MELA-AU 4 186626736 186626736 single base substitution C T intron_variant MELA-AU 4 186626747 186626747 single base substitution A T intron_variant MELA-AU 4 186627093 186627093 single base substitution G A intron_variant MELA-AU 4 186627155 186627155 single base substitution G A intron_variant MELA-AU 4 186627203 186627203 single base substitution G A intron_variant MELA-AU 4 186627425 186627425 single base substitution C T intron_variant MELA-AU 4 186627625 186627625 single base substitution T C intron_variant MELA-AU 4 186627804 186627804 single base substitution C T intron_variant MELA-AU 4 186627908 186627908 single base substitution T A intron_variant MELA-AU 4 186628496 186628496 single base substitution G A intron_variant MELA-AU 4 186628603 186628603 single base substitution G A intron_variant MELA-AU 4 186628802 186628802 single base substitution C T intron_variant MELA-AU 4 186629055 186629055 single base substitution G A intron_variant MELA-AU 4 186629277 186629277 single base substitution C T intron_variant MELA-AU 4 186629465 186629465 single base substitution G A intron_variant MELA-AU 4 186629561 186629561 single base substitution G A intron_variant MELA-AU 4 186629839 186629839 single base substitution C T intron_variant MELA-AU 4 186630221 186630221 single base substitution G T intron_variant MELA-AU 4 186630307 186630307 single base substitution G A intron_variant MELA-AU 4 186630400 186630400 single base substitution C T intron_variant MELA-AU 4 186630583 186630583 single base substitution G A intron_variant MELA-AU 4 186630938 186630938 single base substitution C T intron_variant MELA-AU 4 186631028 186631028 single base substitution T A intron_variant MELA-AU 4 186632166 186632166 single base substitution C T intron_variant MELA-AU 4 186632543 186632543 single base substitution C T intron_variant MELA-AU 4 186632814 186632814 single base substitution C T intron_variant MELA-AU 4 186632983 186632983 single base substitution A T intron_variant MELA-AU 4 186633276 186633276 single base substitution G A intron_variant MELA-AU 4 186633563 186633564 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186633928 186633928 single base substitution C T intron_variant MELA-AU 4 186634407 186634407 single base substitution C T intron_variant MELA-AU 4 186634946 186634946 single base substitution C T intron_variant MELA-AU 4 186635941 186635941 single base substitution G A intron_variant MELA-AU 4 186636160 186636160 single base substitution G A intron_variant MELA-AU 4 186637368 186637368 single base substitution G A intron_variant MELA-AU 4 186637408 186637408 single base substitution T C intron_variant MELA-AU 4 186637903 186637903 single base substitution G A intron_variant MELA-AU 4 186638172 186638172 single base substitution C T intron_variant MELA-AU 4 186638533 186638533 single base substitution G A intron_variant MELA-AU 4 186638914 186638914 single base substitution C T intron_variant MELA-AU 4 186639092 186639092 single base substitution G A intron_variant MELA-AU 4 186639877 186639877 single base substitution C T intron_variant MELA-AU 4 186640347 186640347 single base substitution G A intron_variant MELA-AU 4 186640468 186640468 single base substitution G A intron_variant MELA-AU 4 186640599 186640599 single base substitution G A intron_variant MELA-AU 4 186641086 186641086 single base substitution C T intron_variant MELA-AU 4 186641329 186641329 single base substitution C G intron_variant MELA-AU 4 186641554 186641554 single base substitution C T intron_variant MELA-AU 4 186641728 186641728 single base substitution C T intron_variant MELA-AU 4 186642065 186642065 single base substitution C T intron_variant MELA-AU 4 186642135 186642135 single base substitution C T intron_variant MELA-AU 4 186642635 186642635 single base substitution C G intron_variant MELA-AU 4 186643229 186643229 single base substitution C A intron_variant MELA-AU 4 186644915 186644915 single base substitution A T intron_variant MELA-AU 4 186645221 186645221 single base substitution G A intron_variant MELA-AU 4 186645546 186645546 single base substitution T A intron_variant MELA-AU 4 186645609 186645609 single base substitution C T intron_variant MELA-AU 4 186645824 186645824 single base substitution C A intron_variant MELA-AU 4 186646675 186646675 single base substitution G A intron_variant MELA-AU 4 186647530 186647530 single base substitution C T intron_variant MELA-AU 4 186647596 186647596 single base substitution A T intron_variant MELA-AU 4 186648238 186648239 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 4 186648870 186648870 single base substitution G A intron_variant MELA-AU 4 186649187 186649187 single base substitution G A intron_variant MELA-AU 4 186649437 186649437 single base substitution C T intron_variant MELA-AU 4 186649800 186649800 single base substitution C T intron_variant MELA-AU 4 186649848 186649848 single base substitution A T intron_variant MELA-AU 4 186650577 186650577 single base substitution G A intron_variant MELA-AU 4 186651177 186651177 single base substitution G A intron_variant MELA-AU 4 186651970 186651970 single base substitution G A intron_variant MELA-AU 4 186652124 186652124 single base substitution C T intron_variant MELA-AU 4 186652155 186652155 single base substitution C T intron_variant MELA-AU 4 186653155 186653155 single base substitution G A intron_variant MELA-AU 4 186653370 186653370 single base substitution C T intron_variant MELA-AU 4 186653468 186653468 single base substitution G A intron_variant MELA-AU 4 186653527 186653527 single base substitution G A intron_variant MELA-AU 4 186653720 186653720 single base substitution C T intron_variant MELA-AU 4 186653778 186653778 single base substitution T C intron_variant MELA-AU 4 186654070 186654070 single base substitution G A intron_variant MELA-AU 4 186654335 186654335 single base substitution C T intron_variant MELA-AU 4 186654569 186654569 single base substitution C T intron_variant MELA-AU 4 186654772 186654772 single base substitution G A intron_variant MELA-AU 4 186654792 186654792 single base substitution G A intron_variant MELA-AU 4 186654944 186654944 single base substitution G A intron_variant MELA-AU 4 186655570 186655570 single base substitution T A intron_variant MELA-AU 4 186656223 186656223 single base substitution G A intron_variant MELA-AU 4 186656354 186656354 single base substitution G A intron_variant MELA-AU 4 186656357 186656357 single base substitution C T intron_variant MELA-AU 4 186656632 186656632 single base substitution G A intron_variant MELA-AU 4 186656732 186656732 single base substitution A G intron_variant MELA-AU 4 186657452 186657452 single base substitution A G intron_variant MELA-AU 4 186657818 186657818 single base substitution C T intron_variant MELA-AU 4 186658225 186658225 single base substitution C T intron_variant MELA-AU 4 186658231 186658231 single base substitution G A intron_variant MELA-AU 4 186658371 186658371 single base substitution C T intron_variant MELA-AU 4 186658493 186658493 single base substitution G A intron_variant MELA-AU 4 186658521 186658521 single base substitution G A intron_variant MELA-AU 4 186658543 186658543 single base substitution G A intron_variant MELA-AU 4 186658621 186658621 single base substitution C T intron_variant MELA-AU 4 186658655 186658655 single base substitution G A intron_variant MELA-AU 4 186658932 186658932 single base substitution C T intron_variant MELA-AU 4 186659161 186659161 single base substitution G A intron_variant MELA-AU 4 186659317 186659318 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186659632 186659632 single base substitution G A intron_variant MELA-AU 4 186659728 186659728 single base substitution C T intron_variant MELA-AU 4 186659788 186659788 single base substitution T C intron_variant MELA-AU 4 186659827 186659828 multiple base substitution (>=2bp and <=200bp) TT AG intron_variant MELA-AU 4 186660103 186660103 single base substitution G A intron_variant MELA-AU 4 186660112 186660112 single base substitution C T intron_variant MELA-AU 4 186660687 186660687 single base substitution G A intron_variant MELA-AU 4 186660721 186660721 single base substitution G A intron_variant MELA-AU 4 186660904 186660904 single base substitution G A intron_variant MELA-AU 4 186661217 186661217 single base substitution G A 5_prime_UTR_variant MELA-AU 4 186661217 186661217 single base substitution G A intron_variant MELA-AU 4 186661502 186661502 single base substitution G A intron_variant MELA-AU 4 186661502 186661502 single base substitution G A upstream_gene_variant MELA-AU 4 186662127 186662127 single base substitution G A intron_variant MELA-AU 4 186662127 186662127 single base substitution G A upstream_gene_variant MELA-AU 4 186662392 186662392 single base substitution A G intron_variant MELA-AU 4 186662392 186662392 single base substitution A G upstream_gene_variant MELA-AU 4 186662986 186662986 single base substitution G A intron_variant MELA-AU 4 186662986 186662986 single base substitution G A upstream_gene_variant MELA-AU 4 186663270 186663270 single base substitution G A intron_variant MELA-AU 4 186663270 186663270 single base substitution G A upstream_gene_variant MELA-AU 4 186663352 186663352 single base substitution C T intron_variant MELA-AU 4 186663352 186663352 single base substitution C T upstream_gene_variant MELA-AU 4 186663889 186663889 single base substitution G A intron_variant MELA-AU 4 186663889 186663889 single base substitution G A upstream_gene_variant MELA-AU 4 186663961 186663961 single base substitution C T intron_variant MELA-AU 4 186663961 186663961 single base substitution C T upstream_gene_variant MELA-AU 4 186664002 186664002 single base substitution G A intron_variant MELA-AU 4 186664002 186664002 single base substitution G A upstream_gene_variant MELA-AU 4 186664181 186664181 single base substitution C T intron_variant MELA-AU 4 186664181 186664181 single base substitution C T upstream_gene_variant MELA-AU 4 186664568 186664568 single base substitution G A intron_variant MELA-AU 4 186664568 186664568 single base substitution G A upstream_gene_variant MELA-AU 4 186665144 186665144 single base substitution C T intron_variant MELA-AU 4 186665144 186665144 single base substitution C T upstream_gene_variant MELA-AU 4 186665164 186665164 single base substitution C T intron_variant MELA-AU 4 186665164 186665164 single base substitution C T upstream_gene_variant MELA-AU 4 186665293 186665293 single base substitution C T intron_variant MELA-AU 4 186665293 186665293 single base substitution C T upstream_gene_variant MELA-AU 4 186665399 186665399 single base substitution G A intron_variant MELA-AU 4 186665399 186665399 single base substitution G A upstream_gene_variant MELA-AU 4 186665619 186665619 single base substitution G A intron_variant MELA-AU 4 186665619 186665619 single base substitution G A upstream_gene_variant MELA-AU 4 186666002 186666002 single base substitution G A intron_variant MELA-AU 4 186666002 186666002 single base substitution G A upstream_gene_variant MELA-AU 4 186666065 186666065 single base substitution C T intron_variant MELA-AU 4 186666065 186666065 single base substitution C T upstream_gene_variant MELA-AU 4 186666201 186666201 single base substitution G A intron_variant MELA-AU 4 186666201 186666201 single base substitution G A upstream_gene_variant MELA-AU 4 186666231 186666231 single base substitution C T intron_variant MELA-AU 4 186666231 186666231 single base substitution C T upstream_gene_variant MELA-AU 4 186666306 186666306 single base substitution G A intron_variant MELA-AU 4 186666306 186666306 single base substitution G A upstream_gene_variant MELA-AU 4 186666330 186666330 single base substitution G A intron_variant MELA-AU 4 186666330 186666330 single base substitution G A upstream_gene_variant MELA-AU 4 186666878 186666878 single base substitution T C intron_variant MELA-AU 4 186667110 186667110 single base substitution G A intron_variant MELA-AU 4 186667324 186667324 single base substitution C T intron_variant MELA-AU 4 186667371 186667371 single base substitution G A intron_variant MELA-AU 4 186667409 186667409 single base substitution G A intron_variant MELA-AU 4 186667501 186667501 single base substitution C T intron_variant MELA-AU 4 186667510 186667510 single base substitution G A intron_variant MELA-AU 4 186667654 186667654 single base substitution A C intron_variant MELA-AU 4 186667996 186667996 single base substitution G A intron_variant MELA-AU 4 186668251 186668251 single base substitution G A intron_variant MELA-AU 4 186668520 186668520 single base substitution G A intron_variant MELA-AU 4 186668611 186668611 single base substitution G T intron_variant MELA-AU 4 186668630 186668630 single base substitution C T intron_variant MELA-AU 4 186668703 186668703 single base substitution C T intron_variant MELA-AU 4 186668902 186668902 single base substitution C T intron_variant MELA-AU 4 186669072 186669072 single base substitution G A intron_variant MELA-AU 4 186669145 186669145 single base substitution A G intron_variant MELA-AU 4 186669624 186669624 single base substitution G A intron_variant MELA-AU 4 186669709 186669709 single base substitution G A intron_variant MELA-AU 4 186669752 186669752 single base substitution G C intron_variant MELA-AU 4 186669768 186669768 single base substitution G A intron_variant MELA-AU 4 186669849 186669849 single base substitution C T intron_variant MELA-AU 4 186670068 186670068 single base substitution C T intron_variant MELA-AU 4 186670099 186670099 single base substitution G A intron_variant MELA-AU 4 186670263 186670263 single base substitution G A intron_variant MELA-AU 4 186670353 186670353 single base substitution G A intron_variant MELA-AU 4 186670546 186670546 single base substitution C T intron_variant MELA-AU 4 186671771 186671771 single base substitution C T intron_variant MELA-AU 4 186671998 186671998 single base substitution G A intron_variant MELA-AU 4 186672404 186672404 single base substitution G A intron_variant MELA-AU 4 186672531 186672531 single base substitution G A intron_variant MELA-AU 4 186672639 186672639 single base substitution G A intron_variant MELA-AU 4 186672901 186672901 single base substitution C T intron_variant MELA-AU 4 186673083 186673083 single base substitution G A intron_variant MELA-AU 4 186673273 186673273 single base substitution G A downstream_gene_variant MELA-AU 4 186673273 186673273 single base substitution G A intron_variant MELA-AU 4 186673525 186673525 single base substitution G A downstream_gene_variant MELA-AU 4 186673525 186673525 single base substitution G A intron_variant MELA-AU 4 186673562 186673562 single base substitution T C downstream_gene_variant MELA-AU 4 186673562 186673562 single base substitution T C intron_variant MELA-AU 4 186673866 186673866 single base substitution G A downstream_gene_variant MELA-AU 4 186673866 186673866 single base substitution G A intron_variant MELA-AU 4 186674199 186674199 single base substitution C T downstream_gene_variant MELA-AU 4 186674199 186674199 single base substitution C T intron_variant MELA-AU 4 186674550 186674550 single base substitution G A downstream_gene_variant MELA-AU 4 186674550 186674550 single base substitution G A intron_variant MELA-AU 4 186675354 186675354 single base substitution G A downstream_gene_variant MELA-AU 4 186675354 186675354 single base substitution G A intron_variant MELA-AU 4 186675545 186675545 single base substitution C T downstream_gene_variant MELA-AU 4 186675545 186675545 single base substitution C T intron_variant MELA-AU 4 186675945 186675945 single base substitution C T downstream_gene_variant MELA-AU 4 186675945 186675945 single base substitution C T intron_variant MELA-AU 4 186676123 186676123 single base substitution G A downstream_gene_variant MELA-AU 4 186676123 186676123 single base substitution G A intron_variant MELA-AU 4 186677958 186677958 single base substitution C T downstream_gene_variant MELA-AU 4 186677958 186677958 single base substitution C T intron_variant MELA-AU 4 186678151 186678151 single base substitution A G downstream_gene_variant MELA-AU 4 186678151 186678151 single base substitution A G intron_variant MELA-AU 4 186678314 186678314 single base substitution G A exon_variant MELA-AU 4 186678314 186678314 single base substitution G A intron_variant MELA-AU 4 186678362 186678362 single base substitution C T exon_variant MELA-AU 4 186678362 186678362 single base substitution C T intron_variant MELA-AU 4 186678690 186678690 single base substitution C T intron_variant MELA-AU 4 186679017 186679017 single base substitution G A intron_variant MELA-AU 4 186679039 186679039 single base substitution C T intron_variant MELA-AU 4 186679106 186679106 single base substitution A G intron_variant MELA-AU 4 186679210 186679210 single base substitution C T intron_variant MELA-AU 4 186679422 186679422 single base substitution C T intron_variant MELA-AU 4 186679944 186679944 single base substitution G A intron_variant MELA-AU 4 186680094 186680094 single base substitution C A intron_variant MELA-AU 4 186680589 186680589 single base substitution G A intron_variant MELA-AU 4 186681207 186681207 single base substitution G A intron_variant MELA-AU 4 186681927 186681927 single base substitution C T intron_variant MELA-AU 4 186682479 186682479 single base substitution C T intron_variant MELA-AU 4 186682496 186682496 single base substitution C A intron_variant MELA-AU 4 186682790 186682790 single base substitution G A intron_variant MELA-AU 4 186682790 186682790 single base substitution G A upstream_gene_variant MELA-AU 4 186682812 186682812 single base substitution G A intron_variant MELA-AU 4 186682812 186682812 single base substitution G A upstream_gene_variant MELA-AU 4 186683172 186683172 single base substitution G A intron_variant MELA-AU 4 186683172 186683172 single base substitution G A upstream_gene_variant MELA-AU 4 186683411 186683411 single base substitution G A intron_variant MELA-AU 4 186683411 186683411 single base substitution G A upstream_gene_variant MELA-AU 4 186683679 186683679 single base substitution C T intron_variant MELA-AU 4 186683679 186683679 single base substitution C T upstream_gene_variant MELA-AU 4 186684186 186684186 single base substitution T A intron_variant MELA-AU 4 186684186 186684186 single base substitution T A upstream_gene_variant MELA-AU 4 186684481 186684481 single base substitution G A intron_variant MELA-AU 4 186684481 186684481 single base substitution G A upstream_gene_variant MELA-AU 4 186684486 186684486 single base substitution G A intron_variant MELA-AU 4 186684486 186684486 single base substitution G A upstream_gene_variant MELA-AU 4 186684586 186684586 single base substitution G A intron_variant MELA-AU 4 186684586 186684586 single base substitution G A upstream_gene_variant MELA-AU 4 186685061 186685061 single base substitution A T intron_variant MELA-AU 4 186685061 186685061 single base substitution A T upstream_gene_variant MELA-AU 4 186685200 186685200 single base substitution T C intron_variant MELA-AU 4 186685200 186685200 single base substitution T C upstream_gene_variant MELA-AU 4 186685425 186685425 single base substitution A G intron_variant MELA-AU 4 186685425 186685425 single base substitution A G upstream_gene_variant MELA-AU 4 186685882 186685882 single base substitution G C intron_variant MELA-AU 4 186685882 186685882 single base substitution G C upstream_gene_variant MELA-AU 4 186686431 186686431 single base substitution C T intron_variant MELA-AU 4 186686431 186686431 single base substitution C T upstream_gene_variant MELA-AU 4 186687079 186687079 single base substitution T C intron_variant MELA-AU 4 186687079 186687079 single base substitution T C upstream_gene_variant MELA-AU 4 186687491 186687491 single base substitution C A downstream_gene_variant MELA-AU 4 186687491 186687491 single base substitution C A intron_variant MELA-AU 4 186687491 186687491 single base substitution C A upstream_gene_variant MELA-AU 4 186687593 186687593 single base substitution G A downstream_gene_variant MELA-AU 4 186687593 186687593 single base substitution G A intron_variant MELA-AU 4 186687593 186687593 single base substitution G A upstream_gene_variant MELA-AU 4 186687599 186687599 single base substitution T A downstream_gene_variant MELA-AU 4 186687599 186687599 single base substitution T A intron_variant MELA-AU 4 186687599 186687599 single base substitution T A upstream_gene_variant MELA-AU 4 186687623 186687623 single base substitution C T downstream_gene_variant MELA-AU 4 186687623 186687623 single base substitution C T intron_variant MELA-AU 4 186687623 186687623 single base substitution C T upstream_gene_variant MELA-AU 4 186687829 186687830 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 186687829 186687830 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186687851 186687851 single base substitution G A downstream_gene_variant MELA-AU 4 186687851 186687851 single base substitution G A intron_variant MELA-AU 4 186687888 186687888 single base substitution C T downstream_gene_variant MELA-AU 4 186687888 186687888 single base substitution C T intron_variant MELA-AU 4 186688044 186688044 single base substitution T C downstream_gene_variant MELA-AU 4 186688044 186688044 single base substitution T C intron_variant MELA-AU 4 186688362 186688362 single base substitution G A downstream_gene_variant MELA-AU 4 186688362 186688362 single base substitution G A intron_variant MELA-AU 4 186689119 186689119 single base substitution C T downstream_gene_variant MELA-AU 4 186689119 186689119 single base substitution C T intron_variant MELA-AU 4 186689252 186689252 single base substitution C T downstream_gene_variant MELA-AU 4 186689252 186689252 single base substitution C T intron_variant MELA-AU 4 186689398 186689399 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 186689398 186689399 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186689495 186689495 single base substitution A G downstream_gene_variant MELA-AU 4 186689495 186689495 single base substitution A G intron_variant MELA-AU 4 186689818 186689818 single base substitution A T downstream_gene_variant MELA-AU 4 186689818 186689818 single base substitution A T intron_variant MELA-AU 4 186690016 186690016 single base substitution G A downstream_gene_variant MELA-AU 4 186690016 186690016 single base substitution G A intron_variant MELA-AU 4 186690380 186690380 single base substitution C T downstream_gene_variant MELA-AU 4 186690380 186690380 single base substitution C T intron_variant MELA-AU 4 186690772 186690772 single base substitution G C downstream_gene_variant MELA-AU 4 186690772 186690772 single base substitution G C intron_variant MELA-AU 4 186690864 186690864 single base substitution G A downstream_gene_variant MELA-AU 4 186690864 186690864 single base substitution G A intron_variant MELA-AU 4 186690992 186690992 single base substitution G A downstream_gene_variant MELA-AU 4 186690992 186690992 single base substitution G A intron_variant MELA-AU 4 186691296 186691296 single base substitution G A downstream_gene_variant MELA-AU 4 186691296 186691296 single base substitution G A intron_variant MELA-AU 4 186691474 186691474 single base substitution G A downstream_gene_variant MELA-AU 4 186691474 186691474 single base substitution G A intron_variant MELA-AU 4 186691732 186691732 single base substitution C T downstream_gene_variant MELA-AU 4 186691732 186691732 single base substitution C T intron_variant MELA-AU 4 186692225 186692225 single base substitution C T downstream_gene_variant MELA-AU 4 186692225 186692225 single base substitution C T exon_variant MELA-AU 4 186692225 186692225 single base substitution C T intron_variant MELA-AU 4 186692269 186692269 single base substitution G A downstream_gene_variant MELA-AU 4 186692269 186692269 single base substitution G A exon_variant MELA-AU 4 186692269 186692269 single base substitution G A intron_variant MELA-AU 4 186692335 186692335 single base substitution G A downstream_gene_variant MELA-AU 4 186692335 186692335 single base substitution G A exon_variant MELA-AU 4 186692335 186692335 single base substitution G A intron_variant MELA-AU 4 186692473 186692473 single base substitution G A downstream_gene_variant MELA-AU 4 186692473 186692473 single base substitution G A exon_variant MELA-AU 4 186692473 186692473 single base substitution G A intron_variant MELA-AU 4 186692534 186692534 single base substitution C T downstream_gene_variant MELA-AU 4 186692534 186692534 single base substitution C T exon_variant MELA-AU 4 186692534 186692534 single base substitution C T intron_variant MELA-AU 4 186692825 186692825 single base substitution G A downstream_gene_variant MELA-AU 4 186692825 186692825 single base substitution G A exon_variant MELA-AU 4 186692825 186692825 single base substitution G A intron_variant MELA-AU 4 186692856 186692856 deletion of <=200bp A - downstream_gene_variant MELA-AU 4 186692856 186692856 deletion of <=200bp A - exon_variant MELA-AU 4 186692856 186692856 deletion of <=200bp A - intron_variant MELA-AU 4 186692890 186692891 multiple base substitution (>=2bp and <=200bp) CA AT downstream_gene_variant MELA-AU 4 186692890 186692891 multiple base substitution (>=2bp and <=200bp) CA AT exon_variant MELA-AU 4 186692890 186692891 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 4 186692979 186692979 single base substitution G A downstream_gene_variant MELA-AU 4 186692979 186692979 single base substitution G A exon_variant MELA-AU 4 186692979 186692979 single base substitution G A intron_variant MELA-AU 4 186693264 186693264 single base substitution C T downstream_gene_variant MELA-AU 4 186693264 186693264 single base substitution C T exon_variant MELA-AU 4 186693264 186693264 single base substitution C T intron_variant MELA-AU 4 186693601 186693601 single base substitution G A downstream_gene_variant MELA-AU 4 186693601 186693601 single base substitution G A exon_variant MELA-AU 4 186693601 186693601 single base substitution G A intron_variant MELA-AU 4 186693662 186693662 single base substitution G A downstream_gene_variant MELA-AU 4 186693662 186693662 single base substitution G A exon_variant MELA-AU 4 186693662 186693662 single base substitution G A intron_variant MELA-AU 4 186693923 186693923 single base substitution T G downstream_gene_variant MELA-AU 4 186693923 186693923 single base substitution T G exon_variant MELA-AU 4 186693923 186693923 single base substitution T G intron_variant MELA-AU 4 186694144 186694144 single base substitution G A downstream_gene_variant MELA-AU 4 186694144 186694144 single base substitution G A exon_variant MELA-AU 4 186694144 186694144 single base substitution G A intron_variant MELA-AU 4 186694190 186694190 single base substitution G A downstream_gene_variant MELA-AU 4 186694190 186694190 single base substitution G A exon_variant MELA-AU 4 186694190 186694190 single base substitution G A intron_variant MELA-AU 4 186694444 186694444 single base substitution G A downstream_gene_variant MELA-AU 4 186694444 186694444 single base substitution G A exon_variant MELA-AU 4 186694444 186694444 single base substitution G A intron_variant MELA-AU 4 186696001 186696001 single base substitution G A downstream_gene_variant MELA-AU 4 186696001 186696001 single base substitution G A exon_variant MELA-AU 4 186696001 186696001 single base substitution G A intron_variant MELA-AU 4 186696526 186696526 single base substitution G A 5_prime_UTR_variant MELA-AU 4 186696526 186696526 single base substitution G A intron_variant MELA-AU 4 186696526 186696526 single base substitution G A splice_region_variant MELA-AU 4 186696526 186696526 single base substitution G A upstream_gene_variant MELA-AU 4 186696929 186696929 single base substitution G A 5_prime_UTR_variant MELA-AU 4 186696929 186696929 single base substitution G A exon_variant MELA-AU 4 186696929 186696929 single base substitution G A intron_variant MELA-AU 4 186696929 186696929 single base substitution G A upstream_gene_variant MELA-AU 4 186696956 186696956 single base substitution C T 5_prime_UTR_variant MELA-AU 4 186696956 186696956 single base substitution C T exon_variant MELA-AU 4 186696956 186696956 single base substitution C T intron_variant MELA-AU 4 186696956 186696956 single base substitution C T upstream_gene_variant MELA-AU 4 186697511 186697511 single base substitution T G intron_variant MELA-AU 4 186697511 186697511 single base substitution T G upstream_gene_variant MELA-AU 4 186698588 186698588 single base substitution C T intron_variant MELA-AU 4 186698588 186698588 single base substitution C T upstream_gene_variant MELA-AU 4 186698830 186698830 single base substitution T G intron_variant MELA-AU 4 186698830 186698830 single base substitution T G upstream_gene_variant MELA-AU 4 186698974 186698974 single base substitution G A intron_variant MELA-AU 4 186698974 186698974 single base substitution G A upstream_gene_variant MELA-AU 4 186699020 186699020 single base substitution C T intron_variant MELA-AU 4 186699020 186699020 single base substitution C T upstream_gene_variant MELA-AU 4 186699162 186699162 single base substitution G A intron_variant MELA-AU 4 186699162 186699162 single base substitution G A upstream_gene_variant MELA-AU 4 186699265 186699265 single base substitution C T intron_variant MELA-AU 4 186699265 186699265 single base substitution C T upstream_gene_variant MELA-AU 4 186699765 186699765 single base substitution C T intron_variant MELA-AU 4 186699765 186699765 single base substitution C T upstream_gene_variant MELA-AU 4 186700082 186700082 single base substitution T G intron_variant MELA-AU 4 186700082 186700082 single base substitution T G upstream_gene_variant MELA-AU 4 186700274 186700274 single base substitution C T intron_variant MELA-AU 4 186700274 186700274 single base substitution C T upstream_gene_variant MELA-AU 4 186700393 186700393 single base substitution A T intron_variant MELA-AU 4 186700393 186700393 single base substitution A T upstream_gene_variant MELA-AU 4 186702182 186702182 single base substitution C T intron_variant MELA-AU 4 186702446 186702446 single base substitution C T intron_variant MELA-AU 4 186702660 186702660 single base substitution C T intron_variant MELA-AU 4 186703035 186703035 single base substitution C T intron_variant MELA-AU 4 186703181 186703181 single base substitution C T intron_variant MELA-AU 4 186703302 186703302 single base substitution C T intron_variant MELA-AU 4 186703434 186703434 single base substitution T C intron_variant MELA-AU 4 186703981 186703981 single base substitution G A intron_variant MELA-AU 4 186704467 186704467 single base substitution C T intron_variant MELA-AU 4 186704981 186704981 single base substitution C T intron_variant MELA-AU 4 186705275 186705275 single base substitution G T intron_variant MELA-AU 4 186705541 186705541 single base substitution C T intron_variant MELA-AU 4 186705594 186705594 single base substitution T A intron_variant MELA-AU 4 186706090 186706090 single base substitution A G intron_variant MELA-AU 4 186706273 186706273 single base substitution G A intron_variant MELA-AU 4 186706317 186706317 single base substitution G A intron_variant MELA-AU 4 186706541 186706541 single base substitution C T intron_variant MELA-AU 4 186706617 186706617 single base substitution G A intron_variant MELA-AU 4 186706748 186706748 single base substitution G A intron_variant MELA-AU 4 186707111 186707111 single base substitution C T intron_variant MELA-AU 4 186707151 186707151 single base substitution G A intron_variant MELA-AU 4 186707256 186707256 single base substitution C T intron_variant MELA-AU 4 186707538 186707538 single base substitution C T intron_variant MELA-AU 4 186707606 186707606 single base substitution A G intron_variant MELA-AU 4 186707701 186707701 single base substitution G A intron_variant MELA-AU 4 186707718 186707718 single base substitution T C intron_variant MELA-AU 4 186707812 186707812 single base substitution C T intron_variant MELA-AU 4 186707844 186707844 single base substitution C T intron_variant MELA-AU 4 186708310 186708310 single base substitution G A intron_variant MELA-AU 4 186709037 186709037 single base substitution G A intron_variant MELA-AU 4 186709283 186709283 single base substitution C T intron_variant MELA-AU 4 186709320 186709321 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186709561 186709561 single base substitution G T intron_variant MELA-AU 4 186710000 186710000 single base substitution C T intron_variant MELA-AU 4 186710154 186710154 single base substitution G A intron_variant MELA-AU 4 186710243 186710243 single base substitution G A intron_variant MELA-AU 4 186710706 186710706 single base substitution G A intron_variant MELA-AU 4 186710723 186710723 single base substitution C T intron_variant MELA-AU 4 186710794 186710794 single base substitution C T intron_variant MELA-AU 4 186711064 186711064 single base substitution C T intron_variant MELA-AU 4 186711301 186711301 single base substitution G A intron_variant MELA-AU 4 186711475 186711475 single base substitution C T intron_variant MELA-AU 4 186711566 186711566 single base substitution C T intron_variant MELA-AU 4 186711578 186711578 single base substitution A T intron_variant MELA-AU 4 186711761 186711761 single base substitution A C intron_variant MELA-AU 4 186711969 186711969 single base substitution C T intron_variant MELA-AU 4 186712151 186712151 single base substitution G A intron_variant MELA-AU 4 186712300 186712300 single base substitution C T intron_variant MELA-AU 4 186712767 186712767 single base substitution C T intron_variant MELA-AU 4 186713420 186713420 single base substitution G A intron_variant MELA-AU 4 186713713 186713713 single base substitution G A intron_variant MELA-AU 4 186713785 186713785 single base substitution A G intron_variant MELA-AU 4 186713823 186713823 single base substitution C T intron_variant MELA-AU 4 186713973 186713973 single base substitution C T intron_variant MELA-AU 4 186714304 186714304 single base substitution G C intron_variant MELA-AU 4 186714506 186714506 single base substitution C T intron_variant MELA-AU 4 186714626 186714626 single base substitution G A intron_variant MELA-AU 4 186715342 186715342 single base substitution G A intron_variant MELA-AU 4 186715383 186715383 single base substitution G A intron_variant MELA-AU 4 186715802 186715802 single base substitution C T intron_variant MELA-AU 4 186716082 186716082 single base substitution C T intron_variant MELA-AU 4 186716113 186716113 single base substitution C T intron_variant MELA-AU 4 186716468 186716468 single base substitution G T intron_variant MELA-AU 4 186716571 186716571 single base substitution G A intron_variant MELA-AU 4 186716695 186716695 single base substitution C T intron_variant MELA-AU 4 186716737 186716737 single base substitution G A intron_variant MELA-AU 4 186717013 186717013 single base substitution T C intron_variant MELA-AU 4 186717120 186717120 single base substitution C T intron_variant MELA-AU 4 186717183 186717183 single base substitution C T intron_variant MELA-AU 4 186717194 186717194 single base substitution G T intron_variant MELA-AU 4 186718112 186718112 single base substitution C T intron_variant MELA-AU 4 186718258 186718258 single base substitution C T intron_variant MELA-AU 4 186718319 186718319 single base substitution C T intron_variant MELA-AU 4 186718326 186718326 single base substitution G A intron_variant MELA-AU 4 186718345 186718345 single base substitution C T intron_variant MELA-AU 4 186718479 186718479 single base substitution C T intron_variant MELA-AU 4 186718493 186718493 single base substitution C T intron_variant MELA-AU 4 186718564 186718564 single base substitution G A intron_variant MELA-AU 4 186718814 186718814 single base substitution G A intron_variant MELA-AU 4 186718849 186718849 single base substitution C T intron_variant MELA-AU 4 186719498 186719498 single base substitution C T intron_variant MELA-AU 4 186719730 186719730 single base substitution A G intron_variant MELA-AU 4 186720163 186720163 single base substitution C T intron_variant MELA-AU 4 186720259 186720259 single base substitution G A intron_variant MELA-AU 4 186720421 186720421 single base substitution C T intron_variant MELA-AU 4 186720613 186720613 single base substitution G A intron_variant MELA-AU 4 186720990 186720990 single base substitution C T intron_variant MELA-AU 4 186721276 186721276 single base substitution G A intron_variant MELA-AU 4 186721576 186721576 single base substitution C T intron_variant MELA-AU 4 186721624 186721624 single base substitution C T intron_variant MELA-AU 4 186721797 186721797 single base substitution C T intron_variant MELA-AU 4 186721803 186721803 single base substitution C T intron_variant MELA-AU 4 186721859 186721859 single base substitution C T intron_variant MELA-AU 4 186722472 186722472 single base substitution C T intron_variant MELA-AU 4 186722473 186722473 single base substitution C T intron_variant MELA-AU 4 186722652 186722653 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186722659 186722659 single base substitution G A intron_variant MELA-AU 4 186722742 186722742 single base substitution C G intron_variant MELA-AU 4 186722992 186722992 single base substitution G A intron_variant MELA-AU 4 186723641 186723641 single base substitution C T intron_variant MELA-AU 4 186724016 186724016 single base substitution C T intron_variant MELA-AU 4 186724175 186724175 single base substitution C T intron_variant MELA-AU 4 186724209 186724209 single base substitution C T intron_variant MELA-AU 4 186724506 186724506 single base substitution C T intron_variant MELA-AU 4 186724633 186724633 single base substitution G A intron_variant MELA-AU 4 186725110 186725110 single base substitution A C intron_variant MELA-AU 4 186725416 186725417 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186725417 186725417 single base substitution C T intron_variant MELA-AU 4 186725651 186725651 single base substitution G A intron_variant MELA-AU 4 186725771 186725771 single base substitution G A intron_variant MELA-AU 4 186726708 186726708 single base substitution C T intron_variant MELA-AU 4 186726786 186726786 single base substitution C T intron_variant MELA-AU 4 186727159 186727159 single base substitution A C intron_variant MELA-AU 4 186727246 186727246 single base substitution C T intron_variant MELA-AU 4 186727918 186727918 single base substitution C T intron_variant MELA-AU 4 186728292 186728292 single base substitution A G intron_variant MELA-AU 4 186728359 186728359 single base substitution G A intron_variant MELA-AU 4 186728417 186728417 single base substitution C T intron_variant MELA-AU 4 186728583 186728583 single base substitution G A intron_variant MELA-AU 4 186728835 186728835 single base substitution C T intron_variant MELA-AU 4 186729616 186729616 single base substitution C T intron_variant MELA-AU 4 186730133 186730133 single base substitution C T intron_variant MELA-AU 4 186730579 186730579 single base substitution G A intron_variant MELA-AU 4 186730777 186730777 single base substitution C T intron_variant MELA-AU 4 186730940 186730940 single base substitution C T intron_variant MELA-AU 4 186731028 186731028 single base substitution C T intron_variant MELA-AU 4 186731123 186731123 single base substitution G A intron_variant MELA-AU 4 186731139 186731139 single base substitution G A intron_variant MELA-AU 4 186731226 186731226 single base substitution C T intron_variant MELA-AU 4 186731562 186731562 single base substitution G A intron_variant MELA-AU 4 186731665 186731665 single base substitution T G intron_variant MELA-AU 4 186731743 186731743 single base substitution C T intron_variant MELA-AU 4 186731891 186731891 single base substitution G A intron_variant MELA-AU 4 186732138 186732139 multiple base substitution (>=2bp and <=200bp) CC TA 5_prime_UTR_variant MELA-AU 4 186732138 186732139 multiple base substitution (>=2bp and <=200bp) CC TA exon_variant MELA-AU 4 186732138 186732139 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 4 186732138 186732139 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 4 186732260 186732260 single base substitution C T intron_variant MELA-AU 4 186732260 186732260 single base substitution C T upstream_gene_variant MELA-AU 4 186732262 186732262 single base substitution C T intron_variant MELA-AU 4 186732262 186732262 single base substitution C T upstream_gene_variant MELA-AU 4 186732445 186732445 single base substitution C T intron_variant MELA-AU 4 186732445 186732445 single base substitution C T upstream_gene_variant MELA-AU 4 186732843 186732843 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 186732843 186732843 single base substitution G A exon_variant MELA-AU 4 186732843 186732843 single base substitution G A intron_variant MELA-AU 4 186732843 186732843 single base substitution G A upstream_gene_variant MELA-AU 4 186732857 186732857 single base substitution C T 5_prime_UTR_variant MELA-AU 4 186732857 186732857 single base substitution C T exon_variant MELA-AU 4 186732857 186732857 single base substitution C T intron_variant MELA-AU 4 186732857 186732857 single base substitution C T upstream_gene_variant MELA-AU 4 186733455 186733455 single base substitution G A intron_variant MELA-AU 4 186733455 186733455 single base substitution G A upstream_gene_variant MELA-AU 4 186733780 186733780 single base substitution G A intron_variant MELA-AU 4 186733780 186733780 single base substitution G A upstream_gene_variant MELA-AU 4 186733840 186733840 single base substitution C T intron_variant MELA-AU 4 186733840 186733840 single base substitution C T upstream_gene_variant MELA-AU 4 186734064 186734065 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186734064 186734065 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 186734817 186734817 single base substitution C T intron_variant MELA-AU 4 186734817 186734817 single base substitution C T upstream_gene_variant MELA-AU 4 186734905 186734905 single base substitution G A intron_variant MELA-AU 4 186734905 186734905 single base substitution G A upstream_gene_variant MELA-AU 4 186735247 186735247 single base substitution G A intron_variant MELA-AU 4 186735247 186735247 single base substitution G A upstream_gene_variant MELA-AU 4 186735790 186735790 single base substitution C T intron_variant MELA-AU 4 186735790 186735790 single base substitution C T upstream_gene_variant MELA-AU 4 186735862 186735862 single base substitution G A intron_variant MELA-AU 4 186735862 186735862 single base substitution G A upstream_gene_variant MELA-AU 4 186736015 186736015 single base substitution C T intron_variant MELA-AU 4 186736015 186736015 single base substitution C T upstream_gene_variant MELA-AU 4 186736102 186736102 single base substitution C T intron_variant MELA-AU 4 186736102 186736102 single base substitution C T upstream_gene_variant MELA-AU 4 186736540 186736540 single base substitution A G intron_variant MELA-AU 4 186736540 186736540 single base substitution A G upstream_gene_variant MELA-AU 4 186736641 186736641 single base substitution G A intron_variant MELA-AU 4 186736641 186736641 single base substitution G A upstream_gene_variant MELA-AU 4 186736720 186736720 single base substitution T A intron_variant MELA-AU 4 186736720 186736720 single base substitution T A upstream_gene_variant MELA-AU 4 186736818 186736818 single base substitution G A intron_variant MELA-AU 4 186736818 186736818 single base substitution G A upstream_gene_variant MELA-AU 4 186736977 186736977 single base substitution G A intron_variant MELA-AU 4 186736977 186736977 single base substitution G A upstream_gene_variant MELA-AU 4 186737030 186737030 single base substitution G A intron_variant MELA-AU 4 186737030 186737030 single base substitution G A upstream_gene_variant MELA-AU 4 186737278 186737278 single base substitution C T intron_variant MELA-AU 4 186737278 186737278 single base substitution C T upstream_gene_variant MELA-AU 4 186737461 186737462 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186737461 186737462 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 186737701 186737701 single base substitution G A intron_variant MELA-AU 4 186737701 186737701 single base substitution G A upstream_gene_variant MELA-AU 4 186737930 186737930 single base substitution G A intron_variant MELA-AU 4 186737930 186737930 single base substitution G A upstream_gene_variant MELA-AU 4 186738691 186738691 single base substitution C T intron_variant MELA-AU 4 186738691 186738691 single base substitution C T upstream_gene_variant MELA-AU 4 186738812 186738812 single base substitution G A intron_variant MELA-AU 4 186738812 186738812 single base substitution G A upstream_gene_variant MELA-AU 4 186738961 186738961 single base substitution C T intron_variant MELA-AU 4 186738961 186738961 single base substitution C T upstream_gene_variant MELA-AU 4 186739237 186739237 single base substitution G A intron_variant MELA-AU 4 186739237 186739237 single base substitution G A upstream_gene_variant MELA-AU 4 186739477 186739477 single base substitution G A intron_variant MELA-AU 4 186739534 186739535 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186739755 186739755 single base substitution C T intron_variant MELA-AU 4 186740088 186740088 single base substitution C T intron_variant MELA-AU 4 186740275 186740275 single base substitution G A intron_variant MELA-AU 4 186740351 186740352 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 4 186740479 186740479 single base substitution C T intron_variant MELA-AU 4 186740482 186740482 single base substitution C T intron_variant MELA-AU 4 186740542 186740542 single base substitution C T intron_variant MELA-AU 4 186740575 186740575 single base substitution C T intron_variant MELA-AU 4 186740653 186740653 single base substitution C T intron_variant MELA-AU 4 186740682 186740682 single base substitution C T intron_variant MELA-AU 4 186740816 186740816 single base substitution C T intron_variant MELA-AU 4 186741168 186741168 single base substitution C T intron_variant MELA-AU 4 186741248 186741248 single base substitution G A intron_variant MELA-AU 4 186741249 186741249 single base substitution G A intron_variant MELA-AU 4 186741270 186741270 single base substitution C T intron_variant MELA-AU 4 186741276 186741276 single base substitution G A intron_variant MELA-AU 4 186741353 186741353 single base substitution G A intron_variant MELA-AU 4 186741552 186741552 single base substitution C T intron_variant MELA-AU 4 186741636 186741636 single base substitution G A intron_variant MELA-AU 4 186741886 186741886 single base substitution C T intron_variant MELA-AU 4 186742006 186742006 single base substitution C T intron_variant MELA-AU 4 186742211 186742211 single base substitution C T intron_variant MELA-AU 4 186742287 186742287 single base substitution G A intron_variant MELA-AU 4 186742296 186742296 single base substitution G A intron_variant MELA-AU 4 186742309 186742309 single base substitution C T intron_variant MELA-AU 4 186742329 186742329 single base substitution G A intron_variant MELA-AU 4 186742517 186742517 single base substitution C T intron_variant MELA-AU 4 186742798 186742798 single base substitution G A intron_variant MELA-AU 4 186742835 186742835 single base substitution C T intron_variant MELA-AU 4 186743028 186743028 single base substitution G A intron_variant MELA-AU 4 186743426 186743426 single base substitution G A intron_variant MELA-AU 4 186743708 186743708 single base substitution T C intron_variant MELA-AU 4 186744292 186744292 single base substitution G A intron_variant MELA-AU 4 186744332 186744332 single base substitution G A intron_variant MELA-AU 4 186744516 186744516 single base substitution A T intron_variant MELA-AU 4 186745066 186745066 single base substitution C T intron_variant MELA-AU 4 186745116 186745116 single base substitution C T intron_variant MELA-AU 4 186745223 186745223 single base substitution C T intron_variant MELA-AU 4 186745426 186745426 single base substitution G A intron_variant MELA-AU 4 186745782 186745782 single base substitution G A intron_variant MELA-AU 4 186746046 186746046 single base substitution C T intron_variant MELA-AU 4 186746087 186746087 single base substitution G A intron_variant MELA-AU 4 186746088 186746088 single base substitution G A intron_variant MELA-AU 4 186746288 186746288 single base substitution C T intron_variant MELA-AU 4 186746540 186746540 single base substitution G A intron_variant MELA-AU 4 186746743 186746743 single base substitution T A intron_variant MELA-AU 4 186747024 186747024 single base substitution G A intron_variant MELA-AU 4 186747336 186747336 single base substitution C T intron_variant MELA-AU 4 186747422 186747422 single base substitution G A intron_variant MELA-AU 4 186747609 186747609 single base substitution T A intron_variant MELA-AU 4 186747750 186747750 single base substitution C T intron_variant MELA-AU 4 186747809 186747809 single base substitution G A intron_variant MELA-AU 4 186748919 186748919 single base substitution T C intron_variant MELA-AU 4 186749028 186749028 single base substitution C T intron_variant MELA-AU 4 186749271 186749271 single base substitution G A intron_variant MELA-AU 4 186749313 186749313 single base substitution G A intron_variant MELA-AU 4 186749411 186749411 single base substitution G A intron_variant MELA-AU 4 186749412 186749412 single base substitution G A intron_variant MELA-AU 4 186749690 186749690 single base substitution C T intron_variant MELA-AU 4 186749760 186749760 single base substitution A G intron_variant MELA-AU 4 186750100 186750101 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 4 186750407 186750408 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186750908 186750908 single base substitution G A intron_variant MELA-AU 4 186750920 186750920 single base substitution C T intron_variant MELA-AU 4 186751189 186751189 single base substitution C T intron_variant MELA-AU 4 186751212 186751212 single base substitution G A intron_variant MELA-AU 4 186751371 186751371 single base substitution G A intron_variant MELA-AU 4 186751674 186751674 single base substitution T C intron_variant MELA-AU 4 186751751 186751751 single base substitution C T intron_variant MELA-AU 4 186752266 186752266 single base substitution C T intron_variant MELA-AU 4 186752278 186752278 single base substitution C T intron_variant MELA-AU 4 186752502 186752502 single base substitution C T intron_variant MELA-AU 4 186753651 186753651 single base substitution G A intron_variant MELA-AU 4 186753748 186753748 single base substitution G A intron_variant MELA-AU 4 186754611 186754611 single base substitution C T intron_variant MELA-AU 4 186755118 186755118 single base substitution G A intron_variant MELA-AU 4 186755160 186755160 single base substitution G A intron_variant MELA-AU 4 186755473 186755473 single base substitution G A intron_variant MELA-AU 4 186755503 186755503 single base substitution G A intron_variant MELA-AU 4 186755557 186755557 single base substitution C T intron_variant MELA-AU 4 186755708 186755708 single base substitution C T intron_variant MELA-AU 4 186756093 186756093 single base substitution C T intron_variant MELA-AU 4 186756228 186756228 single base substitution C T intron_variant MELA-AU 4 186756333 186756333 single base substitution C T intron_variant MELA-AU 4 186756340 186756340 single base substitution A G intron_variant MELA-AU 4 186756370 186756393 deletion of <=200bp CTTTTCTTGATAAATTACCCATCC - intron_variant MELA-AU 4 186756424 186756424 single base substitution G A intron_variant MELA-AU 4 186756465 186756465 single base substitution G A intron_variant MELA-AU 4 186756528 186756528 single base substitution A G intron_variant MELA-AU 4 186756635 186756635 single base substitution C T intron_variant MELA-AU 4 186756757 186756757 single base substitution T C intron_variant MELA-AU 4 186756910 186756910 single base substitution G A intron_variant MELA-AU 4 186757076 186757076 single base substitution G A intron_variant MELA-AU 4 186757238 186757238 single base substitution G A intron_variant MELA-AU 4 186757459 186757459 single base substitution C T intron_variant MELA-AU 4 186757500 186757500 single base substitution C T intron_variant MELA-AU 4 186757696 186757696 single base substitution G A intron_variant MELA-AU 4 186757750 186757750 single base substitution C T intron_variant MELA-AU 4 186758652 186758652 single base substitution T G intron_variant MELA-AU 4 186758723 186758723 single base substitution T A intron_variant MELA-AU 4 186759657 186759657 single base substitution G A intron_variant MELA-AU 4 186760118 186760118 single base substitution C T intron_variant MELA-AU 4 186760801 186760801 single base substitution C T intron_variant MELA-AU 4 186761385 186761385 single base substitution C T intron_variant MELA-AU 4 186761439 186761439 single base substitution G A intron_variant MELA-AU 4 186761565 186761565 single base substitution C T intron_variant MELA-AU 4 186761685 186761685 single base substitution C T intron_variant MELA-AU 4 186761750 186761750 single base substitution A T intron_variant MELA-AU 4 186762018 186762018 single base substitution C T intron_variant MELA-AU 4 186762039 186762039 single base substitution G A intron_variant MELA-AU 4 186762133 186762133 single base substitution G A intron_variant MELA-AU 4 186762547 186762547 single base substitution C T intron_variant MELA-AU 4 186762813 186762813 single base substitution T G intron_variant MELA-AU 4 186762871 186762871 single base substitution C T intron_variant MELA-AU 4 186762949 186762949 single base substitution G A intron_variant MELA-AU 4 186763119 186763119 single base substitution A G intron_variant MELA-AU 4 186763150 186763151 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186763656 186763656 single base substitution C T intron_variant MELA-AU 4 186763910 186763910 single base substitution G A intron_variant MELA-AU 4 186763990 186763990 single base substitution G A intron_variant MELA-AU 4 186764260 186764260 single base substitution G A intron_variant MELA-AU 4 186764370 186764370 single base substitution G T intron_variant MELA-AU 4 186764692 186764692 single base substitution C T intron_variant MELA-AU 4 186765118 186765118 single base substitution T C intron_variant MELA-AU 4 186765188 186765188 single base substitution C T intron_variant MELA-AU 4 186765697 186765697 single base substitution G A intron_variant MELA-AU 4 186765725 186765725 single base substitution T C intron_variant MELA-AU 4 186765844 186765844 single base substitution G A intron_variant MELA-AU 4 186765857 186765857 single base substitution C T intron_variant MELA-AU 4 186765992 186765992 single base substitution G A intron_variant MELA-AU 4 186766109 186766109 single base substitution G A intron_variant MELA-AU 4 186766289 186766290 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186766321 186766321 single base substitution C T intron_variant MELA-AU 4 186766375 186766375 single base substitution G A intron_variant MELA-AU 4 186766638 186766638 single base substitution G A intron_variant MELA-AU 4 186766708 186766708 single base substitution G A intron_variant MELA-AU 4 186766709 186766709 single base substitution G A intron_variant MELA-AU 4 186766960 186766960 single base substitution G A intron_variant MELA-AU 4 186767008 186767008 single base substitution A T intron_variant MELA-AU 4 186767379 186767379 single base substitution G A intron_variant MELA-AU 4 186767417 186767417 single base substitution C T intron_variant MELA-AU 4 186767510 186767510 single base substitution G A intron_variant MELA-AU 4 186768162 186768163 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186768193 186768193 single base substitution G A intron_variant MELA-AU 4 186768467 186768467 single base substitution G A intron_variant MELA-AU 4 186768477 186768477 single base substitution G A intron_variant MELA-AU 4 186768639 186768639 single base substitution C T intron_variant MELA-AU 4 186769013 186769013 single base substitution C T intron_variant MELA-AU 4 186769222 186769222 single base substitution C T intron_variant MELA-AU 4 186769347 186769347 single base substitution C T intron_variant MELA-AU 4 186769765 186769765 single base substitution G A intron_variant MELA-AU 4 186770209 186770209 single base substitution G A intron_variant MELA-AU 4 186770370 186770370 single base substitution C T intron_variant MELA-AU 4 186770513 186770513 single base substitution C T intron_variant MELA-AU 4 186770526 186770526 single base substitution A G intron_variant MELA-AU 4 186771255 186771255 single base substitution G A intron_variant MELA-AU 4 186771556 186771556 single base substitution G A intron_variant MELA-AU 4 186772236 186772236 single base substitution C T intron_variant MELA-AU 4 186772304 186772304 single base substitution G A intron_variant MELA-AU 4 186772658 186772658 single base substitution C T intron_variant MELA-AU 4 186772834 186772835 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186773227 186773227 single base substitution C T intron_variant MELA-AU 4 186773325 186773325 single base substitution T C intron_variant MELA-AU 4 186773444 186773444 single base substitution A T intron_variant MELA-AU 4 186773907 186773907 single base substitution G A intron_variant MELA-AU 4 186774018 186774018 single base substitution C T intron_variant MELA-AU 4 186774502 186774502 single base substitution G A intron_variant MELA-AU 4 186774825 186774825 single base substitution G A intron_variant MELA-AU 4 186774929 186774929 single base substitution G A intron_variant MELA-AU 4 186774973 186774973 single base substitution G A intron_variant MELA-AU 4 186775146 186775146 single base substitution G A intron_variant MELA-AU 4 186775595 186775595 single base substitution G A intron_variant MELA-AU 4 186775782 186775782 single base substitution G A intron_variant MELA-AU 4 186775787 186775787 single base substitution C T intron_variant MELA-AU 4 186776236 186776236 single base substitution C G intron_variant MELA-AU 4 186776284 186776284 single base substitution C T intron_variant MELA-AU 4 186776375 186776375 single base substitution C T intron_variant MELA-AU 4 186776454 186776454 single base substitution G A intron_variant MELA-AU 4 186776655 186776655 single base substitution C T intron_variant MELA-AU 4 186777232 186777232 single base substitution C T intron_variant MELA-AU 4 186777507 186777507 single base substitution C T intron_variant MELA-AU 4 186777656 186777656 single base substitution G A intron_variant MELA-AU 4 186777700 186777700 single base substitution C T intron_variant MELA-AU 4 186777814 186777814 single base substitution C T intron_variant MELA-AU 4 186778061 186778061 single base substitution G A intron_variant MELA-AU 4 186778223 186778223 single base substitution G A intron_variant MELA-AU 4 186778464 186778464 single base substitution C T intron_variant MELA-AU 4 186778658 186778658 single base substitution G A intron_variant MELA-AU 4 186778824 186778824 single base substitution G A intron_variant MELA-AU 4 186778912 186778912 single base substitution G A intron_variant MELA-AU 4 186779233 186779233 single base substitution C T intron_variant MELA-AU 4 186779280 186779280 single base substitution G A intron_variant MELA-AU 4 186779346 186779346 single base substitution G A intron_variant MELA-AU 4 186779634 186779634 single base substitution C T intron_variant MELA-AU 4 186779686 186779686 single base substitution G A intron_variant MELA-AU 4 186779998 186779998 single base substitution C T intron_variant MELA-AU 4 186780071 186780071 deletion of <=200bp T - intron_variant MELA-AU 4 186780361 186780361 single base substitution G A intron_variant MELA-AU 4 186780928 186780928 single base substitution G A intron_variant MELA-AU 4 186781013 186781013 single base substitution C T intron_variant MELA-AU 4 186781650 186781650 single base substitution G A intron_variant MELA-AU 4 186781886 186781886 single base substitution G A intron_variant MELA-AU 4 186782069 186782069 single base substitution C T intron_variant MELA-AU 4 186782492 186782492 single base substitution G A intron_variant MELA-AU 4 186782620 186782620 single base substitution G A intron_variant MELA-AU 4 186783235 186783235 single base substitution G A intron_variant MELA-AU 4 186783379 186783379 single base substitution C G intron_variant MELA-AU 4 186783799 186783799 single base substitution C T intron_variant MELA-AU 4 186783861 186783861 single base substitution C A intron_variant MELA-AU 4 186783983 186783983 single base substitution T A intron_variant MELA-AU 4 186784189 186784189 single base substitution G A intron_variant MELA-AU 4 186784197 186784197 single base substitution G A intron_variant MELA-AU 4 186784486 186784486 single base substitution G A intron_variant MELA-AU 4 186784489 186784489 single base substitution T A intron_variant MELA-AU 4 186785036 186785036 single base substitution G A intron_variant MELA-AU 4 186785155 186785155 single base substitution C T intron_variant MELA-AU 4 186785316 186785316 single base substitution C A intron_variant MELA-AU 4 186785406 186785406 single base substitution C A intron_variant MELA-AU 4 186785705 186785705 single base substitution G A intron_variant MELA-AU 4 186785862 186785862 single base substitution C T intron_variant MELA-AU 4 186786004 186786004 single base substitution T C intron_variant MELA-AU 4 186786038 186786038 single base substitution C T intron_variant MELA-AU 4 186786093 186786093 single base substitution C T intron_variant MELA-AU 4 186786206 186786206 single base substitution C T intron_variant MELA-AU 4 186786239 186786239 single base substitution G A intron_variant MELA-AU 4 186786330 186786330 single base substitution C T intron_variant MELA-AU 4 186786520 186786520 single base substitution C T intron_variant MELA-AU 4 186786703 186786703 single base substitution T C intron_variant MELA-AU 4 186787159 186787159 single base substitution G A intron_variant MELA-AU 4 186787161 186787161 single base substitution A T intron_variant MELA-AU 4 186787451 186787451 single base substitution G A intron_variant MELA-AU 4 186787453 186787453 single base substitution A G intron_variant MELA-AU 4 186787547 186787547 single base substitution G A intron_variant MELA-AU 4 186787638 186787638 single base substitution G A intron_variant MELA-AU 4 186787646 186787646 single base substitution C T intron_variant MELA-AU 4 186787715 186787715 single base substitution G A intron_variant MELA-AU 4 186787800 186787800 single base substitution C T intron_variant MELA-AU 4 186788214 186788214 single base substitution G A intron_variant MELA-AU 4 186788610 186788611 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186789043 186789043 single base substitution A G intron_variant MELA-AU 4 186789153 186789153 single base substitution C T intron_variant MELA-AU 4 186789374 186789374 single base substitution G A intron_variant MELA-AU 4 186789414 186789414 single base substitution G A intron_variant MELA-AU 4 186789701 186789701 single base substitution G A intron_variant MELA-AU 4 186789720 186789720 single base substitution G A intron_variant MELA-AU 4 186789846 186789846 single base substitution G A intron_variant MELA-AU 4 186789860 186789860 single base substitution C T intron_variant MELA-AU 4 186789909 186789910 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186790099 186790099 single base substitution G A intron_variant MELA-AU 4 186790123 186790123 single base substitution G A intron_variant MELA-AU 4 186790491 186790491 single base substitution T C intron_variant MELA-AU 4 186790670 186790670 single base substitution C T intron_variant MELA-AU 4 186790828 186790828 single base substitution G A intron_variant MELA-AU 4 186790849 186790849 single base substitution G A intron_variant MELA-AU 4 186791021 186791022 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 186791149 186791149 single base substitution G A intron_variant MELA-AU 4 186791357 186791357 single base substitution G A intron_variant MELA-AU 4 186791418 186791418 single base substitution G A intron_variant MELA-AU 4 186791672 186791672 single base substitution T G intron_variant MELA-AU 4 186791725 186791725 single base substitution C A intron_variant MELA-AU 4 186792222 186792222 single base substitution C T intron_variant MELA-AU 4 186792392 186792392 single base substitution C T intron_variant MELA-AU 4 186792437 186792437 single base substitution G A intron_variant MELA-AU 4 186792798 186792798 single base substitution C T intron_variant MELA-AU 4 186793238 186793238 single base substitution G A intron_variant MELA-AU 4 186793334 186793334 single base substitution G A intron_variant MELA-AU 4 186793543 186793543 single base substitution C T intron_variant MELA-AU 4 186793623 186793623 single base substitution G A intron_variant MELA-AU 4 186793670 186793670 single base substitution G A intron_variant MELA-AU 4 186793768 186793768 single base substitution G A intron_variant MELA-AU 4 186793878 186793878 single base substitution G A intron_variant MELA-AU 4 186794226 186794226 single base substitution G A intron_variant MELA-AU 4 186794572 186794572 single base substitution C T intron_variant MELA-AU 4 186794901 186794901 single base substitution C T intron_variant MELA-AU 4 186795475 186795475 single base substitution G A intron_variant MELA-AU 4 186795666 186795666 single base substitution C T intron_variant MELA-AU 4 186795750 186795750 single base substitution C T intron_variant MELA-AU 4 186795955 186795955 single base substitution G A intron_variant MELA-AU 4 186796085 186796085 single base substitution T C intron_variant MELA-AU 4 186796095 186796095 single base substitution G A intron_variant MELA-AU 4 186796587 186796587 single base substitution C T intron_variant MELA-AU 4 186796895 186796895 single base substitution C T intron_variant MELA-AU 4 186797180 186797180 single base substitution C T intron_variant MELA-AU 4 186797365 186797365 single base substitution G A intron_variant MELA-AU 4 186797372 186797372 single base substitution C T intron_variant MELA-AU 4 186797490 186797490 single base substitution G A intron_variant MELA-AU 4 186797541 186797541 single base substitution C T intron_variant MELA-AU 4 186797548 186797548 single base substitution C T intron_variant MELA-AU 4 186798906 186798906 single base substitution C T intron_variant MELA-AU 4 186798907 186798907 single base substitution C T intron_variant MELA-AU 4 186799011 186799011 single base substitution G A intron_variant MELA-AU 4 186799636 186799636 single base substitution C T intron_variant MELA-AU 4 186799803 186799803 single base substitution C T intron_variant MELA-AU 4 186800914 186800914 single base substitution C T intron_variant MELA-AU 4 186801025 186801025 single base substitution C T intron_variant MELA-AU 4 186801050 186801050 single base substitution C T intron_variant MELA-AU 4 186801053 186801053 single base substitution C T intron_variant MELA-AU 4 186801133 186801133 single base substitution G A intron_variant MELA-AU 4 186801192 186801192 single base substitution T C intron_variant MELA-AU 4 186801198 186801198 single base substitution G A intron_variant MELA-AU 4 186801215 186801215 single base substitution C T intron_variant MELA-AU 4 186801923 186801923 single base substitution G A intron_variant MELA-AU 4 186802176 186802176 single base substitution G A intron_variant MELA-AU 4 186802222 186802222 single base substitution G A intron_variant MELA-AU 4 186802426 186802426 single base substitution G A intron_variant MELA-AU 4 186802687 186802687 single base substitution G A intron_variant MELA-AU 4 186802738 186802738 single base substitution G A intron_variant MELA-AU 4 186802934 186802934 single base substitution C A intron_variant MELA-AU 4 186802973 186802973 single base substitution G A intron_variant MELA-AU 4 186803122 186803122 single base substitution C T intron_variant MELA-AU 4 186803298 186803298 single base substitution G A intron_variant MELA-AU 4 186803849 186803849 single base substitution G A intron_variant MELA-AU 4 186803906 186803906 single base substitution G A intron_variant MELA-AU 4 186804232 186804232 single base substitution T C intron_variant MELA-AU 4 186804473 186804473 single base substitution G A intron_variant MELA-AU 4 186805122 186805122 single base substitution C T intron_variant MELA-AU 4 186805183 186805183 single base substitution G A intron_variant MELA-AU 4 186805201 186805201 single base substitution G A intron_variant MELA-AU 4 186805233 186805233 single base substitution G A intron_variant MELA-AU 4 186805411 186805411 single base substitution C T intron_variant MELA-AU 4 186805459 186805459 single base substitution C T intron_variant MELA-AU 4 186805831 186805831 single base substitution C T intron_variant MELA-AU 4 186805953 186805953 single base substitution G A intron_variant MELA-AU 4 186806101 186806101 single base substitution G A intron_variant MELA-AU 4 186806126 186806126 single base substitution G A intron_variant MELA-AU 4 186806390 186806390 single base substitution C T intron_variant MELA-AU 4 186806586 186806586 single base substitution G A intron_variant MELA-AU 4 186806725 186806725 single base substitution C T intron_variant MELA-AU 4 186806760 186806760 single base substitution G A intron_variant MELA-AU 4 186806771 186806771 single base substitution G A intron_variant MELA-AU 4 186806827 186806827 single base substitution A G intron_variant MELA-AU 4 186806939 186806939 single base substitution G T intron_variant MELA-AU 4 186807001 186807001 single base substitution G A intron_variant MELA-AU 4 186807331 186807331 single base substitution T C intron_variant MELA-AU 4 186807339 186807339 single base substitution C T intron_variant MELA-AU 4 186807794 186807794 single base substitution C A intron_variant MELA-AU 4 186808021 186808021 single base substitution G A intron_variant MELA-AU 4 186808470 186808470 single base substitution G A intron_variant MELA-AU 4 186808518 186808518 single base substitution G A intron_variant MELA-AU 4 186808696 186808696 single base substitution G A intron_variant MELA-AU 4 186809028 186809028 single base substitution C T intron_variant MELA-AU 4 186809268 186809268 single base substitution C T intron_variant MELA-AU 4 186809398 186809398 single base substitution G A intron_variant MELA-AU 4 186809474 186809474 single base substitution G A intron_variant MELA-AU 4 186809609 186809609 single base substitution C T intron_variant MELA-AU 4 186809626 186809626 single base substitution G A intron_variant MELA-AU 4 186809824 186809824 single base substitution C T intron_variant MELA-AU 4 186809851 186809851 single base substitution C T intron_variant MELA-AU 4 186809965 186809965 single base substitution G A intron_variant MELA-AU 4 186810372 186810372 single base substitution G A intron_variant MELA-AU 4 186810449 186810449 single base substitution A T intron_variant MELA-AU 4 186810700 186810700 single base substitution G A intron_variant MELA-AU 4 186810772 186810772 single base substitution C T intron_variant MELA-AU 4 186810870 186810870 single base substitution T A intron_variant MELA-AU 4 186811031 186811031 single base substitution A G intron_variant MELA-AU 4 186811395 186811395 single base substitution T A intron_variant MELA-AU 4 186811888 186811888 single base substitution C T intron_variant MELA-AU 4 186812067 186812067 single base substitution G A intron_variant MELA-AU 4 186812091 186812091 single base substitution G A intron_variant MELA-AU 4 186812119 186812119 single base substitution C T intron_variant MELA-AU 4 186812128 186812128 single base substitution G A intron_variant MELA-AU 4 186812214 186812214 single base substitution C T intron_variant MELA-AU 4 186812283 186812284 multiple base substitution (>=2bp and <=200bp) TG AC intron_variant MELA-AU 4 186812499 186812499 single base substitution C T intron_variant MELA-AU 4 186812819 186812819 single base substitution C T intron_variant MELA-AU 4 186812828 186812828 single base substitution A G intron_variant MELA-AU 4 186812925 186812925 single base substitution C T intron_variant MELA-AU 4 186813007 186813007 single base substitution G A intron_variant MELA-AU 4 186813013 186813013 single base substitution G A intron_variant MELA-AU 4 186813180 186813180 single base substitution G A intron_variant MELA-AU 4 186813200 186813200 single base substitution G A intron_variant MELA-AU 4 186813209 186813209 single base substitution G A intron_variant MELA-AU 4 186813259 186813259 single base substitution C T intron_variant MELA-AU 4 186813415 186813415 single base substitution C T intron_variant MELA-AU 4 186813828 186813828 single base substitution G A intron_variant MELA-AU 4 186814197 186814197 single base substitution G A intron_variant MELA-AU 4 186814332 186814332 single base substitution G A intron_variant MELA-AU 4 186814687 186814687 single base substitution C T intron_variant MELA-AU 4 186814892 186814892 single base substitution C T intron_variant MELA-AU 4 186814893 186814893 single base substitution C T intron_variant MELA-AU 4 186814899 186814899 single base substitution G A intron_variant MELA-AU 4 186815033 186815033 single base substitution C T intron_variant MELA-AU 4 186815092 186815092 single base substitution C T intron_variant MELA-AU 4 186815268 186815268 single base substitution G A intron_variant MELA-AU 4 186815364 186815364 single base substitution G A intron_variant MELA-AU 4 186815473 186815473 single base substitution G A 5_prime_UTR_variant MELA-AU 4 186815473 186815473 single base substitution G A exon_variant MELA-AU 4 186815473 186815473 single base substitution G A intron_variant MELA-AU 4 186815599 186815599 single base substitution G A intron_variant MELA-AU 4 186815652 186815652 single base substitution C T intron_variant MELA-AU 4 186815702 186815702 single base substitution C T intron_variant MELA-AU 4 186815778 186815778 single base substitution C T intron_variant MELA-AU 4 186816166 186816166 single base substitution C T intron_variant MELA-AU 4 186816441 186816441 single base substitution C T intron_variant MELA-AU 4 186817232 186817232 single base substitution C T intron_variant MELA-AU 4 186817303 186817303 single base substitution T C intron_variant MELA-AU 4 186817323 186817323 single base substitution G A intron_variant MELA-AU 4 186817464 186817464 single base substitution G A intron_variant MELA-AU 4 186817622 186817622 single base substitution C T intron_variant MELA-AU 4 186820162 186820162 single base substitution T G intron_variant MELA-AU 4 186820188 186820188 single base substitution C T intron_variant MELA-AU 4 186820553 186820553 single base substitution G A intron_variant MELA-AU 4 186820690 186820690 single base substitution C T intron_variant MELA-AU 4 186820725 186820725 single base substitution G A intron_variant MELA-AU 4 186820837 186820837 single base substitution G A intron_variant MELA-AU 4 186820944 186820944 single base substitution C T intron_variant MELA-AU 4 186821029 186821029 single base substitution G A intron_variant MELA-AU 4 186821069 186821069 single base substitution G A intron_variant MELA-AU 4 186821186 186821186 single base substitution C T intron_variant MELA-AU 4 186821461 186821461 single base substitution C T intron_variant MELA-AU 4 186821927 186821927 single base substitution G A intron_variant MELA-AU 4 186822329 186822329 single base substitution C T intron_variant MELA-AU 4 186822609 186822609 single base substitution C T intron_variant MELA-AU 4 186822664 186822664 single base substitution G A intron_variant MELA-AU 4 186822858 186822858 single base substitution T G intron_variant MELA-AU 4 186822978 186822978 single base substitution C T intron_variant MELA-AU 4 186823300 186823300 single base substitution C T intron_variant MELA-AU 4 186823682 186823682 single base substitution G A intron_variant MELA-AU 4 186823923 186823923 single base substitution A G intron_variant MELA-AU 4 186823932 186823932 single base substitution C T intron_variant MELA-AU 4 186823943 186823943 single base substitution G A intron_variant MELA-AU 4 186824367 186824367 single base substitution G A intron_variant MELA-AU 4 186824779 186824779 single base substitution G A intron_variant MELA-AU 4 186825083 186825083 single base substitution A T intron_variant MELA-AU 4 186825149 186825149 single base substitution C T intron_variant MELA-AU 4 186825243 186825243 single base substitution G A intron_variant MELA-AU 4 186825396 186825396 single base substitution G A intron_variant MELA-AU 4 186825621 186825621 single base substitution C T intron_variant MELA-AU 4 186825897 186825897 single base substitution G A intron_variant MELA-AU 4 186826376 186826376 single base substitution G A intron_variant MELA-AU 4 186826387 186826387 single base substitution T C intron_variant MELA-AU 4 186826493 186826493 single base substitution G A intron_variant MELA-AU 4 186826768 186826768 single base substitution C T intron_variant MELA-AU 4 186826849 186826849 single base substitution C T intron_variant MELA-AU 4 186827298 186827298 single base substitution C T intron_variant MELA-AU 4 186827358 186827358 single base substitution C T intron_variant MELA-AU 4 186827558 186827558 single base substitution G A intron_variant MELA-AU 4 186827668 186827668 single base substitution C T intron_variant MELA-AU 4 186827717 186827717 single base substitution C T intron_variant MELA-AU 4 186827791 186827791 single base substitution G A intron_variant MELA-AU 4 186827834 186827834 single base substitution C T intron_variant MELA-AU 4 186827896 186827896 single base substitution G A intron_variant MELA-AU 4 186827991 186827991 single base substitution G A intron_variant MELA-AU 4 186828379 186828379 single base substitution G A intron_variant MELA-AU 4 186828412 186828412 single base substitution C T intron_variant MELA-AU 4 186828654 186828654 single base substitution A C intron_variant MELA-AU 4 186828795 186828795 single base substitution G A intron_variant MELA-AU 4 186828876 186828876 single base substitution G A intron_variant MELA-AU 4 186829067 186829067 single base substitution C T intron_variant MELA-AU 4 186829650 186829650 single base substitution C T intron_variant MELA-AU 4 186829748 186829748 single base substitution C T intron_variant MELA-AU 4 186829832 186829832 single base substitution G A intron_variant MELA-AU 4 186829871 186829871 single base substitution T A intron_variant MELA-AU 4 186829902 186829902 single base substitution G A intron_variant MELA-AU 4 186829965 186829965 single base substitution C T intron_variant MELA-AU 4 186830378 186830378 single base substitution G A intron_variant MELA-AU 4 186830389 186830389 single base substitution T C intron_variant MELA-AU 4 186830437 186830437 single base substitution A C intron_variant MELA-AU 4 186830564 186830564 single base substitution G A intron_variant MELA-AU 4 186830717 186830717 single base substitution A G intron_variant MELA-AU 4 186830723 186830724 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 4 186830754 186830754 single base substitution T A intron_variant MELA-AU 4 186830774 186830774 single base substitution C T intron_variant MELA-AU 4 186831132 186831132 single base substitution C T intron_variant MELA-AU 4 186831147 186831147 single base substitution A T intron_variant MELA-AU 4 186831175 186831175 single base substitution C T intron_variant MELA-AU 4 186831303 186831303 single base substitution C T intron_variant MELA-AU 4 186831417 186831417 single base substitution G A intron_variant MELA-AU 4 186831443 186831443 single base substitution C T intron_variant MELA-AU 4 186831472 186831472 single base substitution C T intron_variant MELA-AU 4 186831550 186831550 single base substitution A T intron_variant MELA-AU 4 186831674 186831674 single base substitution C T intron_variant MELA-AU 4 186832309 186832309 single base substitution C T intron_variant MELA-AU 4 186832921 186832921 single base substitution C T intron_variant MELA-AU 4 186832941 186832941 single base substitution T A intron_variant MELA-AU 4 186832973 186832973 single base substitution T C intron_variant MELA-AU 4 186833530 186833530 single base substitution G A intron_variant MELA-AU 4 186834743 186834743 single base substitution C T intron_variant MELA-AU 4 186834897 186834897 single base substitution G A intron_variant MELA-AU 4 186835378 186835378 single base substitution C T intron_variant MELA-AU 4 186835656 186835656 single base substitution T G intron_variant MELA-AU 4 186835749 186835749 single base substitution G T intron_variant MELA-AU 4 186835845 186835845 single base substitution C T intron_variant MELA-AU 4 186836063 186836063 single base substitution C T intron_variant MELA-AU 4 186836107 186836107 single base substitution G A intron_variant MELA-AU 4 186836483 186836483 single base substitution C T intron_variant MELA-AU 4 186836743 186836743 single base substitution C T intron_variant MELA-AU 4 186836776 186836776 single base substitution C T intron_variant MELA-AU 4 186837381 186837381 single base substitution G A intron_variant MELA-AU 4 186837550 186837550 single base substitution C T intron_variant MELA-AU 4 186838119 186838119 single base substitution G A intron_variant MELA-AU 4 186838121 186838121 single base substitution G A intron_variant MELA-AU 4 186838251 186838251 single base substitution G A intron_variant MELA-AU 4 186838294 186838294 single base substitution G A intron_variant MELA-AU 4 186838339 186838339 single base substitution C T intron_variant MELA-AU 4 186838391 186838391 single base substitution A G intron_variant MELA-AU 4 186838444 186838444 single base substitution G A intron_variant MELA-AU 4 186838488 186838488 single base substitution C T intron_variant MELA-AU 4 186838546 186838546 single base substitution C T intron_variant MELA-AU 4 186838578 186838578 single base substitution C T intron_variant MELA-AU 4 186838615 186838615 single base substitution C T intron_variant MELA-AU 4 186838775 186838775 single base substitution A G intron_variant MELA-AU 4 186838971 186838971 single base substitution G A intron_variant MELA-AU 4 186839036 186839036 single base substitution G A intron_variant MELA-AU 4 186839158 186839158 single base substitution G A intron_variant MELA-AU 4 186839400 186839400 single base substitution C T intron_variant MELA-AU 4 186839596 186839596 single base substitution C T intron_variant MELA-AU 4 186839599 186839599 single base substitution C A intron_variant MELA-AU 4 186839844 186839844 single base substitution C T intron_variant MELA-AU 4 186841179 186841180 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 4 186841241 186841241 single base substitution G A intron_variant MELA-AU 4 186841610 186841610 single base substitution G A intron_variant MELA-AU 4 186841706 186841706 single base substitution G A intron_variant MELA-AU 4 186841848 186841848 single base substitution G A intron_variant MELA-AU 4 186841879 186841879 single base substitution G A intron_variant MELA-AU 4 186842040 186842040 single base substitution G A intron_variant MELA-AU 4 186842125 186842125 single base substitution G A intron_variant MELA-AU 4 186842130 186842130 single base substitution G A intron_variant MELA-AU 4 186842149 186842149 single base substitution C T intron_variant MELA-AU 4 186842153 186842153 single base substitution G A intron_variant MELA-AU 4 186842224 186842224 single base substitution G A intron_variant MELA-AU 4 186842235 186842235 single base substitution C T intron_variant MELA-AU 4 186842576 186842576 single base substitution A G intron_variant MELA-AU 4 186843139 186843139 single base substitution G A intron_variant MELA-AU 4 186844079 186844079 single base substitution C T intron_variant MELA-AU 4 186844440 186844440 single base substitution G A intron_variant MELA-AU 4 186844959 186844959 single base substitution C T intron_variant MELA-AU 4 186844996 186844996 single base substitution G A intron_variant MELA-AU 4 186845025 186845025 single base substitution T A intron_variant MELA-AU 4 186845407 186845407 single base substitution G A intron_variant MELA-AU 4 186845542 186845542 single base substitution G A intron_variant MELA-AU 4 186845816 186845816 single base substitution G A intron_variant MELA-AU 4 186846059 186846059 single base substitution C T intron_variant MELA-AU 4 186846070 186846070 single base substitution G A intron_variant MELA-AU 4 186846368 186846368 single base substitution C T intron_variant MELA-AU 4 186846540 186846540 single base substitution G A intron_variant MELA-AU 4 186846911 186846911 single base substitution G A intron_variant MELA-AU 4 186846945 186846945 single base substitution G A intron_variant MELA-AU 4 186847025 186847025 single base substitution G A intron_variant MELA-AU 4 186847034 186847034 single base substitution C T intron_variant MELA-AU 4 186847633 186847633 single base substitution A G intron_variant MELA-AU 4 186847674 186847674 single base substitution G A intron_variant MELA-AU 4 186847993 186847993 single base substitution G T intron_variant MELA-AU 4 186848014 186848014 single base substitution G A intron_variant MELA-AU 4 186848094 186848094 single base substitution A C intron_variant MELA-AU 4 186848722 186848722 single base substitution G A intron_variant MELA-AU 4 186849013 186849013 single base substitution G A intron_variant MELA-AU 4 186849131 186849131 single base substitution C T intron_variant MELA-AU 4 186849268 186849268 single base substitution A G intron_variant MELA-AU 4 186849309 186849309 single base substitution C T intron_variant MELA-AU 4 186849341 186849341 single base substitution C T intron_variant MELA-AU 4 186849351 186849351 single base substitution G A intron_variant MELA-AU 4 186849687 186849687 single base substitution C T intron_variant MELA-AU 4 186849723 186849723 single base substitution G A intron_variant MELA-AU 4 186849913 186849913 single base substitution G A intron_variant MELA-AU 4 186849935 186849935 single base substitution C T intron_variant MELA-AU 4 186850155 186850155 single base substitution G A intron_variant MELA-AU 4 186850993 186850993 single base substitution G A intron_variant MELA-AU 4 186851065 186851065 single base substitution G A intron_variant MELA-AU 4 186851147 186851147 single base substitution G A intron_variant MELA-AU 4 186851314 186851314 single base substitution G A intron_variant MELA-AU 4 186851547 186851547 single base substitution C T intron_variant MELA-AU 4 186851649 186851649 single base substitution T G intron_variant MELA-AU 4 186851995 186851995 single base substitution G A intron_variant MELA-AU 4 186852153 186852153 single base substitution G A intron_variant MELA-AU 4 186852267 186852267 single base substitution G A intron_variant MELA-AU 4 186852330 186852330 single base substitution G A intron_variant MELA-AU 4 186852375 186852375 single base substitution G A intron_variant MELA-AU 4 186852453 186852453 single base substitution T A intron_variant MELA-AU 4 186852966 186852966 single base substitution G C intron_variant MELA-AU 4 186852978 186852979 multiple base substitution (>=2bp and <=200bp) TG CA intron_variant MELA-AU 4 186853140 186853140 single base substitution C G intron_variant MELA-AU 4 186853409 186853409 single base substitution G A intron_variant MELA-AU 4 186853586 186853586 single base substitution G A intron_variant MELA-AU 4 186853682 186853682 single base substitution C T intron_variant MELA-AU 4 186853892 186853892 single base substitution G A intron_variant MELA-AU 4 186854295 186854295 single base substitution C T exon_variant MELA-AU 4 186854295 186854295 single base substitution C T intron_variant MELA-AU 4 186854641 186854641 single base substitution G A intron_variant MELA-AU 4 186854641 186854641 single base substitution G A upstream_gene_variant MELA-AU 4 186854699 186854699 single base substitution C T intron_variant MELA-AU 4 186854699 186854699 single base substitution C T upstream_gene_variant MELA-AU 4 186854759 186854759 single base substitution C T intron_variant MELA-AU 4 186854759 186854759 single base substitution C T upstream_gene_variant MELA-AU 4 186855201 186855201 single base substitution C T intron_variant MELA-AU 4 186855201 186855201 single base substitution C T upstream_gene_variant MELA-AU 4 186855377 186855377 single base substitution C T intron_variant MELA-AU 4 186855377 186855377 single base substitution C T upstream_gene_variant MELA-AU 4 186855381 186855381 single base substitution C T intron_variant MELA-AU 4 186855381 186855381 single base substitution C T upstream_gene_variant MELA-AU 4 186855429 186855429 single base substitution C T intron_variant MELA-AU 4 186855429 186855429 single base substitution C T upstream_gene_variant MELA-AU 4 186856450 186856450 single base substitution A G intron_variant MELA-AU 4 186856450 186856450 single base substitution A G upstream_gene_variant MELA-AU 4 186856580 186856580 single base substitution C T intron_variant MELA-AU 4 186856580 186856580 single base substitution C T upstream_gene_variant MELA-AU 4 186856725 186856725 single base substitution C T intron_variant MELA-AU 4 186856725 186856725 single base substitution C T upstream_gene_variant MELA-AU 4 186856760 186856760 single base substitution C T intron_variant MELA-AU 4 186856760 186856760 single base substitution C T upstream_gene_variant MELA-AU 4 186857271 186857271 single base substitution C T intron_variant MELA-AU 4 186857271 186857271 single base substitution C T upstream_gene_variant MELA-AU 4 186857718 186857718 single base substitution C T intron_variant MELA-AU 4 186857718 186857718 single base substitution C T upstream_gene_variant MELA-AU 4 186857899 186857899 single base substitution G A intron_variant MELA-AU 4 186857899 186857899 single base substitution G A upstream_gene_variant MELA-AU 4 186857923 186857923 single base substitution C T intron_variant MELA-AU 4 186857923 186857923 single base substitution C T upstream_gene_variant MELA-AU 4 186858106 186858106 deletion of <=200bp C - intron_variant MELA-AU 4 186858106 186858106 deletion of <=200bp C - upstream_gene_variant MELA-AU 4 186858657 186858657 single base substitution G A intron_variant MELA-AU 4 186858657 186858657 single base substitution G A upstream_gene_variant MELA-AU 4 186858989 186858989 single base substitution A G intron_variant MELA-AU 4 186858989 186858989 single base substitution A G upstream_gene_variant MELA-AU 4 186859254 186859254 single base substitution C T intron_variant MELA-AU 4 186859254 186859254 single base substitution C T upstream_gene_variant MELA-AU 4 186859679 186859679 single base substitution C T intron_variant MELA-AU 4 186859754 186859754 single base substitution C T intron_variant MELA-AU 4 186859777 186859777 single base substitution C T intron_variant MELA-AU 4 186859892 186859892 single base substitution T A intron_variant MELA-AU 4 186859968 186859968 single base substitution C T intron_variant MELA-AU 4 186860321 186860321 single base substitution C T intron_variant MELA-AU 4 186860324 186860324 single base substitution C T intron_variant MELA-AU 4 186860579 186860579 single base substitution C T intron_variant MELA-AU 4 186860651 186860651 single base substitution G A intron_variant MELA-AU 4 186860654 186860654 single base substitution C T intron_variant MELA-AU 4 186860724 186860724 single base substitution G A intron_variant MELA-AU 4 186860747 186860747 single base substitution C T intron_variant MELA-AU 4 186860787 186860787 single base substitution C T intron_variant MELA-AU 4 186860884 186860884 single base substitution G A intron_variant MELA-AU 4 186860921 186860922 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186861073 186861073 single base substitution C T intron_variant MELA-AU 4 186861310 186861310 single base substitution C T intron_variant MELA-AU 4 186861332 186861333 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186861396 186861396 single base substitution C T intron_variant MELA-AU 4 186861484 186861484 single base substitution T A intron_variant MELA-AU 4 186861958 186861959 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186862077 186862077 single base substitution G A intron_variant MELA-AU 4 186862109 186862109 single base substitution G C intron_variant MELA-AU 4 186862243 186862243 single base substitution C T intron_variant MELA-AU 4 186862402 186862402 single base substitution G A intron_variant MELA-AU 4 186862415 186862415 single base substitution G A intron_variant MELA-AU 4 186862925 186862925 single base substitution G A intron_variant MELA-AU 4 186863339 186863339 single base substitution C T intron_variant MELA-AU 4 186863462 186863462 single base substitution C T intron_variant MELA-AU 4 186863603 186863603 single base substitution C T intron_variant MELA-AU 4 186863703 186863703 single base substitution C T intron_variant MELA-AU 4 186863812 186863812 single base substitution C T intron_variant MELA-AU 4 186863867 186863867 single base substitution C T intron_variant MELA-AU 4 186863927 186863927 single base substitution G A intron_variant MELA-AU 4 186863947 186863947 single base substitution G A intron_variant MELA-AU 4 186864148 186864148 single base substitution A G intron_variant MELA-AU 4 186864408 186864408 single base substitution C T intron_variant MELA-AU 4 186864761 186864761 single base substitution G A intron_variant MELA-AU 4 186864799 186864799 single base substitution G A intron_variant MELA-AU 4 186864868 186864868 single base substitution G A intron_variant MELA-AU 4 186864991 186864991 single base substitution G A intron_variant MELA-AU 4 186865057 186865057 single base substitution G A intron_variant MELA-AU 4 186866203 186866203 single base substitution T C intron_variant MELA-AU 4 186866424 186866424 single base substitution A G intron_variant MELA-AU 4 186866516 186866516 single base substitution A C intron_variant MELA-AU 4 186866523 186866523 single base substitution G A intron_variant MELA-AU 4 186866745 186866745 single base substitution G A intron_variant MELA-AU 4 186866820 186866820 single base substitution G A intron_variant MELA-AU 4 186867093 186867093 single base substitution C T intron_variant MELA-AU 4 186867102 186867102 single base substitution G A intron_variant MELA-AU 4 186867320 186867320 single base substitution C T intron_variant MELA-AU 4 186867358 186867358 single base substitution G A intron_variant MELA-AU 4 186867523 186867523 single base substitution G A intron_variant MELA-AU 4 186867589 186867589 single base substitution T G intron_variant MELA-AU 4 186867679 186867679 single base substitution G A intron_variant MELA-AU 4 186868060 186868060 single base substitution C T intron_variant MELA-AU 4 186868174 186868174 single base substitution C T intron_variant MELA-AU 4 186868271 186868271 single base substitution C T intron_variant MELA-AU 4 186868285 186868285 single base substitution C T intron_variant MELA-AU 4 186868421 186868421 single base substitution G A intron_variant MELA-AU 4 186868488 186868488 single base substitution C T intron_variant MELA-AU 4 186868513 186868513 single base substitution C T intron_variant MELA-AU 4 186868553 186868553 single base substitution T G intron_variant MELA-AU 4 186868788 186868788 single base substitution G A intron_variant MELA-AU 4 186868795 186868795 single base substitution C T intron_variant MELA-AU 4 186868840 186868840 single base substitution C T intron_variant MELA-AU 4 186869084 186869084 single base substitution G A intron_variant MELA-AU 4 186869361 186869361 single base substitution C T intron_variant MELA-AU 4 186869376 186869376 single base substitution C T intron_variant MELA-AU 4 186869496 186869496 single base substitution G A intron_variant MELA-AU 4 186869505 186869506 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186869653 186869653 single base substitution A G intron_variant MELA-AU 4 186869892 186869892 single base substitution G A intron_variant MELA-AU 4 186869989 186869989 single base substitution A C intron_variant MELA-AU 4 186870146 186870146 single base substitution G A intron_variant MELA-AU 4 186870402 186870402 single base substitution C T intron_variant MELA-AU 4 186870682 186870682 single base substitution C T intron_variant MELA-AU 4 186870708 186870708 single base substitution G A intron_variant MELA-AU 4 186870753 186870753 single base substitution G A intron_variant MELA-AU 4 186870776 186870776 single base substitution G A intron_variant MELA-AU 4 186871204 186871204 single base substitution G A intron_variant MELA-AU 4 186871567 186871567 single base substitution C T intron_variant MELA-AU 4 186871570 186871570 single base substitution G A intron_variant MELA-AU 4 186871610 186871610 single base substitution G A intron_variant MELA-AU 4 186871709 186871709 single base substitution C T intron_variant MELA-AU 4 186872073 186872073 single base substitution G A intron_variant MELA-AU 4 186872278 186872278 single base substitution C T intron_variant MELA-AU 4 186872519 186872519 single base substitution C T intron_variant MELA-AU 4 186873099 186873099 single base substitution C T intron_variant MELA-AU 4 186873125 186873125 single base substitution C T intron_variant MELA-AU 4 186873313 186873313 single base substitution G A intron_variant MELA-AU 4 186873402 186873402 single base substitution G A intron_variant MELA-AU 4 186873413 186873413 single base substitution C T intron_variant MELA-AU 4 186873503 186873503 single base substitution C G intron_variant MELA-AU 4 186873534 186873534 single base substitution A T intron_variant MELA-AU 4 186873781 186873781 single base substitution G A intron_variant MELA-AU 4 186874077 186874077 single base substitution C T intron_variant MELA-AU 4 186874087 186874087 single base substitution T C intron_variant MELA-AU 4 186874109 186874109 single base substitution C T intron_variant MELA-AU 4 186874244 186874244 single base substitution G A intron_variant MELA-AU 4 186874293 186874293 single base substitution A G intron_variant MELA-AU 4 186874675 186874675 single base substitution C T intron_variant MELA-AU 4 186874897 186874897 single base substitution C T intron_variant MELA-AU 4 186874989 186874989 single base substitution C T intron_variant MELA-AU 4 186875081 186875081 single base substitution C T intron_variant MELA-AU 4 186875107 186875107 single base substitution C T intron_variant MELA-AU 4 186875138 186875138 single base substitution C T intron_variant MELA-AU 4 186875143 186875144 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 186875480 186875480 single base substitution T G intron_variant MELA-AU 4 186875635 186875635 single base substitution A T intron_variant MELA-AU 4 186875643 186875643 single base substitution T C intron_variant MELA-AU 4 186875747 186875747 single base substitution G A intron_variant MELA-AU 4 186875758 186875758 single base substitution G A intron_variant MELA-AU 4 186875909 186875909 single base substitution C T intron_variant MELA-AU 4 186876743 186876743 single base substitution T C intron_variant MELA-AU 4 186876894 186876894 single base substitution G A intron_variant MELA-AU 4 186877790 186877790 single base substitution G A 5_prime_UTR_variant MELA-AU 4 186877790 186877790 single base substitution G A upstream_gene_variant MELA-AU 4 186877845 186877845 single base substitution C T upstream_gene_variant MELA-AU 4 186878295 186878295 single base substitution G A upstream_gene_variant MELA-AU 4 186878433 186878433 single base substitution G A upstream_gene_variant MELA-AU 4 186878581 186878581 single base substitution G A upstream_gene_variant MELA-AU 4 186878747 186878747 single base substitution C T upstream_gene_variant MELA-AU 4 186878926 186878926 single base substitution G T upstream_gene_variant MELA-AU 4 186878976 186878976 single base substitution G A upstream_gene_variant MELA-AU 4 186879176 186879176 single base substitution G A upstream_gene_variant MELA-AU 4 186879238 186879238 single base substitution C T upstream_gene_variant MELA-AU 4 186879579 186879579 single base substitution C T upstream_gene_variant MELA-AU 4 186879919 186879919 single base substitution A G upstream_gene_variant MELA-AU 4 186879931 186879931 single base substitution G A upstream_gene_variant MELA-AU 4 186879982 186879982 single base substitution G A upstream_gene_variant MELA-AU 4 186879994 186879994 single base substitution G A upstream_gene_variant MELA-AU 4 186880375 186880375 single base substitution C T upstream_gene_variant MELA-AU 4 186880386 186880386 single base substitution C T upstream_gene_variant MELA-AU 4 186880405 186880405 single base substitution G A upstream_gene_variant MELA-AU 4 186880483 186880483 single base substitution G A upstream_gene_variant MELA-AU 4 186880583 186880583 single base substitution C T upstream_gene_variant MELA-AU 4 186880591 186880591 single base substitution C T upstream_gene_variant MELA-AU 4 186880605 186880605 single base substitution C T upstream_gene_variant MELA-AU 4 186880707 186880707 single base substitution G A upstream_gene_variant MELA-AU 4 186880954 186880954 single base substitution C T upstream_gene_variant MELA-AU 4 186880969 186880969 single base substitution G A upstream_gene_variant MELA-AU 4 186881314 186881314 single base substitution G A upstream_gene_variant MELA-AU 4 186881425 186881425 single base substitution G A upstream_gene_variant MELA-AU 4 186881723 186881723 single base substitution G A upstream_gene_variant MELA-AU 4 186881958 186881958 single base substitution G A upstream_gene_variant MELA-AU 4 186882008 186882008 single base substitution C T upstream_gene_variant MELA-AU 4 186882087 186882087 single base substitution C T upstream_gene_variant MELA-AU 4 186882188 186882188 single base substitution C T upstream_gene_variant MELA-AU 4 186882782 186882782 single base substitution C T upstream_gene_variant ORCA-IN 4 186522522 186522522 single base substitution A G intron_variant ORCA-IN 4 186571513 186571513 single base substitution C T downstream_gene_variant ORCA-IN 4 186571513 186571513 single base substitution C T intron_variant ORCA-IN 4 186571513 186571513 single base substitution C T upstream_gene_variant ORCA-IN 4 186603129 186603129 single base substitution C G downstream_gene_variant ORCA-IN 4 186603129 186603129 single base substitution C G intron_variant ORCA-IN 4 186603900 186603900 single base substitution C G downstream_gene_variant ORCA-IN 4 186603900 186603900 single base substitution C G intron_variant ORCA-IN 4 186605656 186605656 deletion of <=200bp C - downstream_gene_variant ORCA-IN 4 186605656 186605656 deletion of <=200bp C - intron_variant ORCA-IN 4 186644696 186644696 single base substitution G C intron_variant ORCA-IN 4 186646424 186646424 single base substitution G A intron_variant ORCA-IN 4 186649299 186649299 single base substitution C T intron_variant ORCA-IN 4 186665047 186665047 single base substitution T C intron_variant ORCA-IN 4 186665047 186665047 single base substitution T C upstream_gene_variant ORCA-IN 4 186667556 186667556 single base substitution C T intron_variant ORCA-IN 4 186678087 186678087 single base substitution T C downstream_gene_variant ORCA-IN 4 186678087 186678087 single base substitution T C intron_variant ORCA-IN 4 186683191 186683191 single base substitution G C intron_variant ORCA-IN 4 186683191 186683191 single base substitution G C upstream_gene_variant ORCA-IN 4 186701817 186701817 single base substitution G A intron_variant ORCA-IN 4 186701817 186701817 single base substitution G A upstream_gene_variant ORCA-IN 4 186711143 186711143 single base substitution C G intron_variant ORCA-IN 4 186711287 186711287 deletion of <=200bp A - intron_variant ORCA-IN 4 186719407 186719407 single base substitution C T intron_variant ORCA-IN 4 186727029 186727029 single base substitution G C intron_variant ORCA-IN 4 186730947 186730947 single base substitution C T intron_variant ORCA-IN 4 186731299 186731299 single base substitution A G intron_variant ORCA-IN 4 186738383 186738383 deletion of <=200bp C - intron_variant ORCA-IN 4 186738383 186738383 deletion of <=200bp C - upstream_gene_variant ORCA-IN 4 186773211 186773211 single base substitution G C intron_variant ORCA-IN 4 186773231 186773231 single base substitution C T intron_variant ORCA-IN 4 186775943 186775943 single base substitution G A intron_variant ORCA-IN 4 186791853 186791853 single base substitution C G intron_variant ORCA-IN 4 186797621 186797621 single base substitution G A intron_variant ORCA-IN 4 186799420 186799420 single base substitution G A intron_variant ORCA-IN 4 186802477 186802477 single base substitution C G intron_variant ORCA-IN 4 186809113 186809124 deletion of <=200bp TATGTGTGTGTG - intron_variant ORCA-IN 4 186825407 186825407 single base substitution G A intron_variant ORCA-IN 4 186880872 186880872 single base substitution T G upstream_gene_variant OV-AU 4 186502659 186502659 single base substitution T A downstream_gene_variant OV-AU 4 186505125 186505125 single base substitution A G downstream_gene_variant OV-AU 4 186517926 186517926 single base substitution A G intron_variant OV-AU 4 186519658 186519658 single base substitution T A intron_variant OV-AU 4 186523205 186523205 single base substitution G T downstream_gene_variant OV-AU 4 186523205 186523205 single base substitution G T intron_variant OV-AU 4 186524381 186524381 single base substitution C A downstream_gene_variant OV-AU 4 186524381 186524381 single base substitution C A intron_variant OV-AU 4 186539279 186539279 single base substitution C T downstream_gene_variant OV-AU 4 186539279 186539279 single base substitution C T intron_variant OV-AU 4 186539279 186539279 single base substitution C T upstream_gene_variant OV-AU 4 186541449 186541449 single base substitution G T downstream_gene_variant OV-AU 4 186541449 186541449 single base substitution G T intron_variant OV-AU 4 186543271 186543271 single base substitution C G downstream_gene_variant OV-AU 4 186543271 186543271 single base substitution C G intron_variant OV-AU 4 186545838 186545838 single base substitution C T downstream_gene_variant OV-AU 4 186545838 186545838 single base substitution C T intron_variant OV-AU 4 186548052 186548052 single base substitution C T downstream_gene_variant OV-AU 4 186548052 186548052 single base substitution C T exon_variant OV-AU 4 186548052 186548052 single base substitution C T missense_variant G162R 484G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G190R 568G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G229R 685G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G231R 691G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G286R 856G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G357R 1069G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G374R 1120G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G379R 1135G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G386R 1156G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G404R 1210G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G444R 1330G>A OV-AU 4 186548052 186548052 single base substitution C T missense_variant G537R 1609G>A OV-AU 4 186550060 186550060 single base substitution G A downstream_gene_variant OV-AU 4 186550060 186550060 single base substitution G A intron_variant OV-AU 4 186550060 186550060 single base substitution G A upstream_gene_variant OV-AU 4 186558361 186558361 single base substitution T G downstream_gene_variant OV-AU 4 186558361 186558361 single base substitution T G intron_variant OV-AU 4 186573890 186573890 single base substitution G T downstream_gene_variant OV-AU 4 186573890 186573890 single base substitution G T intron_variant OV-AU 4 186573890 186573890 single base substitution G T splice_region_variant OV-AU 4 186573890 186573890 single base substitution G T upstream_gene_variant OV-AU 4 186583776 186583776 single base substitution C T downstream_gene_variant OV-AU 4 186583776 186583776 single base substitution C T intron_variant OV-AU 4 186586219 186586219 single base substitution G C downstream_gene_variant OV-AU 4 186586219 186586219 single base substitution G C intron_variant OV-AU 4 186590917 186590917 single base substitution A T intron_variant OV-AU 4 186594319 186594319 single base substitution G T downstream_gene_variant OV-AU 4 186594319 186594319 single base substitution G T intron_variant OV-AU 4 186599958 186599958 single base substitution G T 5_prime_UTR_variant OV-AU 4 186599958 186599958 single base substitution G T exon_variant OV-AU 4 186599958 186599958 single base substitution G T missense_variant P10Q 29C>A OV-AU 4 186599958 186599958 single base substitution G T missense_variant P27Q 80C>A OV-AU 4 186599958 186599958 single base substitution G T missense_variant P41Q 122C>A OV-AU 4 186600866 186600866 single base substitution T A intron_variant OV-AU 4 186604011 186604011 single base substitution T C downstream_gene_variant OV-AU 4 186604011 186604011 single base substitution T C intron_variant OV-AU 4 186620275 186620275 single base substitution A T intron_variant OV-AU 4 186629999 186629999 single base substitution G C intron_variant OV-AU 4 186633442 186633442 single base substitution G T intron_variant OV-AU 4 186645747 186645747 single base substitution G T intron_variant OV-AU 4 186670999 186670999 single base substitution A G intron_variant OV-AU 4 186671257 186671257 single base substitution C A intron_variant OV-AU 4 186694509 186694509 single base substitution T C downstream_gene_variant OV-AU 4 186694509 186694509 single base substitution T C exon_variant OV-AU 4 186694509 186694509 single base substitution T C intron_variant OV-AU 4 186694876 186694876 single base substitution G T downstream_gene_variant OV-AU 4 186694876 186694876 single base substitution G T exon_variant OV-AU 4 186694876 186694876 single base substitution G T intron_variant OV-AU 4 186698953 186698953 single base substitution T G intron_variant OV-AU 4 186698953 186698953 single base substitution T G upstream_gene_variant OV-AU 4 186699593 186699593 single base substitution T C intron_variant OV-AU 4 186699593 186699593 single base substitution T C upstream_gene_variant OV-AU 4 186701012 186701012 single base substitution C G intron_variant OV-AU 4 186701012 186701012 single base substitution C G upstream_gene_variant OV-AU 4 186705519 186705519 single base substitution C T intron_variant OV-AU 4 186713370 186713370 single base substitution A T intron_variant OV-AU 4 186714525 186714525 single base substitution T C intron_variant OV-AU 4 186715776 186715776 single base substitution A G intron_variant OV-AU 4 186718436 186718436 single base substitution G T intron_variant OV-AU 4 186719705 186719705 single base substitution A G intron_variant OV-AU 4 186725986 186725986 single base substitution A G intron_variant OV-AU 4 186732365 186732365 single base substitution A T intron_variant OV-AU 4 186732365 186732365 single base substitution A T upstream_gene_variant OV-AU 4 186733225 186733225 single base substitution T A 5_prime_UTR_variant OV-AU 4 186733225 186733225 single base substitution T A exon_variant OV-AU 4 186733225 186733225 single base substitution T A intron_variant OV-AU 4 186733225 186733225 single base substitution T A upstream_gene_variant OV-AU 4 186735450 186735450 single base substitution C A intron_variant OV-AU 4 186735450 186735450 single base substitution C A upstream_gene_variant OV-AU 4 186742878 186742878 single base substitution C T intron_variant OV-AU 4 186746517 186746517 single base substitution G C intron_variant OV-AU 4 186747257 186747257 single base substitution T G intron_variant OV-AU 4 186747258 186747258 single base substitution T A intron_variant OV-AU 4 186747267 186747267 single base substitution A T intron_variant OV-AU 4 186747664 186747664 single base substitution A G intron_variant OV-AU 4 186748412 186748412 single base substitution C T intron_variant OV-AU 4 186761669 186761669 single base substitution C A intron_variant OV-AU 4 186765040 186765040 single base substitution A G intron_variant OV-AU 4 186765312 186765312 single base substitution T C intron_variant OV-AU 4 186767263 186767263 single base substitution G T intron_variant OV-AU 4 186772496 186772496 single base substitution T A intron_variant OV-AU 4 186772525 186772525 single base substitution G A intron_variant OV-AU 4 186772991 186772991 single base substitution C A intron_variant OV-AU 4 186779624 186779624 single base substitution C T intron_variant OV-AU 4 186787615 186787615 single base substitution A C intron_variant OV-AU 4 186788383 186788383 single base substitution C G intron_variant OV-AU 4 186788409 186788409 single base substitution C A intron_variant OV-AU 4 186802097 186802097 single base substitution G A intron_variant OV-AU 4 186802267 186802267 single base substitution A C intron_variant OV-AU 4 186803866 186803866 single base substitution T C intron_variant OV-AU 4 186805028 186805028 single base substitution T A intron_variant OV-AU 4 186805674 186805674 single base substitution G T intron_variant OV-AU 4 186806659 186806659 single base substitution G C intron_variant OV-AU 4 186809751 186809751 single base substitution G T intron_variant OV-AU 4 186810396 186810396 single base substitution C G intron_variant OV-AU 4 186811983 186811983 single base substitution G C intron_variant OV-AU 4 186813832 186813832 single base substitution A C intron_variant OV-AU 4 186818270 186818270 single base substitution C G intron_variant OV-AU 4 186827266 186827266 single base substitution C A intron_variant OV-AU 4 186828643 186828643 single base substitution C A intron_variant OV-AU 4 186829459 186829459 single base substitution A T intron_variant OV-AU 4 186830291 186830291 single base substitution G T intron_variant OV-AU 4 186831174 186831174 single base substitution C A intron_variant OV-AU 4 186832800 186832800 single base substitution G C intron_variant OV-AU 4 186833610 186833610 single base substitution G A intron_variant OV-AU 4 186835650 186835650 single base substitution G A intron_variant OV-AU 4 186838039 186838039 single base substitution A G intron_variant OV-AU 4 186840678 186840678 single base substitution A T intron_variant OV-AU 4 186847395 186847395 single base substitution G C intron_variant OV-AU 4 186852076 186852076 single base substitution G C intron_variant OV-AU 4 186852642 186852642 single base substitution G T intron_variant OV-AU 4 186866511 186866511 single base substitution G A intron_variant OV-AU 4 186868555 186868555 single base substitution C T intron_variant OV-AU 4 186868705 186868705 single base substitution C T intron_variant OV-AU 4 186870349 186870349 single base substitution C G intron_variant OV-AU 4 186870725 186870725 single base substitution G T intron_variant OV-AU 4 186873258 186873258 single base substitution A C intron_variant OV-AU 4 186877538 186877538 single base substitution C T 5_prime_UTR_variant OV-AU 4 186877538 186877538 single base substitution C T upstream_gene_variant OV-AU 4 186882760 186882760 single base substitution C A upstream_gene_variant OV-US 4 186536052 186536052 single base substitution T C downstream_gene_variant OV-US 4 186536052 186536052 single base substitution T C exon_variant OV-US 4 186536052 186536052 single base substitution T C missense_variant E1039G 3116A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E288G 863A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E483G 1448A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E500G 1499A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E505G 1514A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E530G 1589A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E570G 1709A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E663G 1988A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E843G 2528A>G OV-US 4 186536052 186536052 single base substitution T C missense_variant E939G 2816A>G PACA-AU 4 186503571 186503571 single base substitution C A downstream_gene_variant PACA-AU 4 186503572 186503572 single base substitution C A downstream_gene_variant PACA-AU 4 186508857 186508857 single base substitution G A intron_variant PACA-AU 4 186511706 186511706 single base substitution T C downstream_gene_variant PACA-AU 4 186511706 186511706 single base substitution T C intron_variant PACA-AU 4 186511706 186511706 single base substitution T C upstream_gene_variant PACA-AU 4 186519663 186519663 single base substitution A G intron_variant PACA-AU 4 186522109 186522109 single base substitution A G intron_variant PACA-AU 4 186538786 186538786 single base substitution G C downstream_gene_variant PACA-AU 4 186538786 186538786 single base substitution G C intron_variant PACA-AU 4 186538786 186538786 single base substitution G C upstream_gene_variant PACA-AU 4 186542789 186542789 insertion of <=200bp - A downstream_gene_variant PACA-AU 4 186542789 186542789 insertion of <=200bp - A intron_variant PACA-AU 4 186548538 186548538 single base substitution A T downstream_gene_variant PACA-AU 4 186548538 186548538 single base substitution A T intron_variant PACA-AU 4 186548538 186548538 single base substitution A T upstream_gene_variant PACA-AU 4 186550111 186550111 single base substitution G C downstream_gene_variant PACA-AU 4 186550111 186550111 single base substitution G C intron_variant PACA-AU 4 186550111 186550111 single base substitution G C upstream_gene_variant PACA-AU 4 186551611 186551611 single base substitution T C downstream_gene_variant PACA-AU 4 186551611 186551611 single base substitution T C intron_variant PACA-AU 4 186551611 186551611 single base substitution T C upstream_gene_variant PACA-AU 4 186553171 186553171 single base substitution C T intron_variant PACA-AU 4 186559439 186559439 single base substitution C T downstream_gene_variant PACA-AU 4 186559439 186559439 single base substitution C T intron_variant PACA-AU 4 186565301 186565301 single base substitution C T downstream_gene_variant PACA-AU 4 186565301 186565301 single base substitution C T intron_variant PACA-AU 4 186566252 186566252 single base substitution A G downstream_gene_variant PACA-AU 4 186566252 186566252 single base substitution A G intron_variant PACA-AU 4 186567150 186567150 deletion of <=200bp A - downstream_gene_variant PACA-AU 4 186567150 186567150 deletion of <=200bp A - exon_variant PACA-AU 4 186567150 186567150 deletion of <=200bp A - intron_variant PACA-AU 4 186578944 186578944 single base substitution G A downstream_gene_variant PACA-AU 4 186578944 186578944 single base substitution G A intron_variant PACA-AU 4 186578944 186578944 single base substitution G A upstream_gene_variant PACA-AU 4 186584234 186584234 single base substitution C T downstream_gene_variant PACA-AU 4 186584234 186584234 single base substitution C T intron_variant PACA-AU 4 186584336 186584336 single base substitution G A downstream_gene_variant PACA-AU 4 186584336 186584336 single base substitution G A intron_variant PACA-AU 4 186585176 186585176 insertion of <=200bp - T downstream_gene_variant PACA-AU 4 186585176 186585176 insertion of <=200bp - T intron_variant PACA-AU 4 186585244 186585244 single base substitution G A downstream_gene_variant PACA-AU 4 186585244 186585244 single base substitution G A intron_variant PACA-AU 4 186591762 186591762 single base substitution G T intron_variant PACA-AU 4 186602465 186602465 single base substitution G A downstream_gene_variant PACA-AU 4 186602465 186602465 single base substitution G A intron_variant PACA-AU 4 186607526 186607526 insertion of <=200bp - TTA intron_variant PACA-AU 4 186609616 186609616 single base substitution A G intron_variant PACA-AU 4 186610018 186610018 single base substitution T G intron_variant PACA-AU 4 186611082 186611082 single base substitution A G intron_variant PACA-AU 4 186611913 186611913 single base substitution A C intron_variant PACA-AU 4 186611913 186611913 single base substitution A C upstream_gene_variant PACA-AU 4 186618619 186618619 deletion of <=200bp T - intron_variant PACA-AU 4 186620591 186620591 single base substitution C T intron_variant PACA-AU 4 186623763 186623763 single base substitution C T intron_variant PACA-AU 4 186625511 186625511 single base substitution C T intron_variant PACA-AU 4 186631586 186631586 single base substitution A T intron_variant PACA-AU 4 186634622 186634622 deletion of <=200bp G - intron_variant PACA-AU 4 186636787 186636787 deletion of <=200bp A - intron_variant PACA-AU 4 186645212 186645212 single base substitution G A intron_variant PACA-AU 4 186645988 186645988 single base substitution C T intron_variant PACA-AU 4 186646048 186646048 single base substitution T A intron_variant PACA-AU 4 186650983 186650983 single base substitution C T intron_variant PACA-AU 4 186657564 186657564 single base substitution G A intron_variant PACA-AU 4 186657866 186657866 single base substitution G A intron_variant PACA-AU 4 186657973 186657973 single base substitution G A intron_variant PACA-AU 4 186658859 186658859 single base substitution G A intron_variant PACA-AU 4 186659169 186659169 single base substitution G C intron_variant PACA-AU 4 186664446 186664446 single base substitution T C intron_variant PACA-AU 4 186664446 186664446 single base substitution T C upstream_gene_variant PACA-AU 4 186667514 186667514 single base substitution A C intron_variant PACA-AU 4 186667541 186667541 single base substitution G T intron_variant PACA-AU 4 186668043 186668043 single base substitution C A intron_variant PACA-AU 4 186672513 186672513 single base substitution G A intron_variant PACA-AU 4 186682753 186682753 single base substitution G A intron_variant PACA-AU 4 186682753 186682753 single base substitution G A upstream_gene_variant PACA-AU 4 186684641 186684641 single base substitution A G intron_variant PACA-AU 4 186684641 186684641 single base substitution A G upstream_gene_variant PACA-AU 4 186686571 186686571 single base substitution C T intron_variant PACA-AU 4 186686571 186686571 single base substitution C T upstream_gene_variant PACA-AU 4 186690272 186690288 deletion of <=200bp AGTCAAAGGCACATGGG - downstream_gene_variant PACA-AU 4 186690272 186690288 deletion of <=200bp AGTCAAAGGCACATGGG - intron_variant PACA-AU 4 186693856 186693856 single base substitution A G downstream_gene_variant PACA-AU 4 186693856 186693856 single base substitution A G exon_variant PACA-AU 4 186693856 186693856 single base substitution A G intron_variant PACA-AU 4 186700468 186700468 deletion of <=200bp T - intron_variant PACA-AU 4 186700468 186700468 deletion of <=200bp T - upstream_gene_variant PACA-AU 4 186701667 186701667 single base substitution G A intron_variant PACA-AU 4 186701667 186701667 single base substitution G A upstream_gene_variant PACA-AU 4 186702501 186702501 single base substitution A G intron_variant PACA-AU 4 186704613 186704613 single base substitution C T intron_variant PACA-AU 4 186705210 186705210 single base substitution C A intron_variant PACA-AU 4 186710844 186710844 deletion of <=200bp T - intron_variant PACA-AU 4 186729245 186729245 single base substitution G T intron_variant PACA-AU 4 186729246 186729246 single base substitution C T intron_variant PACA-AU 4 186729247 186729247 single base substitution T A intron_variant PACA-AU 4 186733632 186733632 single base substitution G A intron_variant PACA-AU 4 186733632 186733632 single base substitution G A upstream_gene_variant PACA-AU 4 186733825 186733825 single base substitution T C intron_variant PACA-AU 4 186733825 186733825 single base substitution T C upstream_gene_variant PACA-AU 4 186740381 186740381 single base substitution A G intron_variant PACA-AU 4 186748442 186748442 single base substitution C T intron_variant PACA-AU 4 186749746 186749746 single base substitution A G intron_variant PACA-AU 4 186754407 186754407 single base substitution G C intron_variant PACA-AU 4 186763795 186763795 single base substitution A T intron_variant PACA-AU 4 186764527 186764527 single base substitution C A intron_variant PACA-AU 4 186764533 186764533 insertion of <=200bp - AT intron_variant PACA-AU 4 186765478 186765478 single base substitution A T intron_variant PACA-AU 4 186770180 186770180 single base substitution C T intron_variant PACA-AU 4 186772113 186772113 single base substitution T C intron_variant PACA-AU 4 186773643 186773643 single base substitution A G intron_variant PACA-AU 4 186775940 186775940 insertion of <=200bp - AG intron_variant PACA-AU 4 186778068 186778068 single base substitution T A intron_variant PACA-AU 4 186781609 186781609 single base substitution G A intron_variant PACA-AU 4 186789317 186789317 single base substitution T C intron_variant PACA-AU 4 186792256 186792256 single base substitution C A intron_variant PACA-AU 4 186793094 186793094 single base substitution T G intron_variant PACA-AU 4 186799250 186799250 single base substitution G A intron_variant PACA-AU 4 186801800 186801800 single base substitution T G intron_variant PACA-AU 4 186807581 186807581 single base substitution T C intron_variant PACA-AU 4 186809785 186809785 single base substitution C T intron_variant PACA-AU 4 186811013 186811013 single base substitution C T intron_variant PACA-AU 4 186813742 186813742 single base substitution T C intron_variant PACA-AU 4 186822248 186822248 single base substitution G A intron_variant PACA-AU 4 186822610 186822610 single base substitution G A intron_variant PACA-AU 4 186825754 186825754 single base substitution G A intron_variant PACA-AU 4 186826265 186826265 single base substitution A G intron_variant PACA-AU 4 186832235 186832235 single base substitution A G intron_variant PACA-AU 4 186834520 186834520 deletion of <=200bp A - intron_variant PACA-AU 4 186839794 186839794 single base substitution C T intron_variant PACA-AU 4 186840894 186840894 single base substitution G A intron_variant PACA-AU 4 186843714 186843714 insertion of <=200bp - T intron_variant PACA-AU 4 186845745 186845745 single base substitution G A intron_variant PACA-AU 4 186846166 186846166 single base substitution G A intron_variant PACA-AU 4 186853154 186853154 single base substitution C A intron_variant PACA-AU 4 186857019 186857019 single base substitution T A intron_variant PACA-AU 4 186857019 186857019 single base substitution T A upstream_gene_variant PACA-AU 4 186859817 186859817 single base substitution G A intron_variant PACA-AU 4 186860486 186860486 single base substitution A G intron_variant PACA-AU 4 186863281 186863281 insertion of <=200bp - A intron_variant PACA-AU 4 186866579 186866579 single base substitution G A intron_variant PACA-AU 4 186869226 186869226 single base substitution G A intron_variant PACA-AU 4 186870854 186870854 single base substitution T C intron_variant PACA-AU 4 186871733 186871733 single base substitution G A intron_variant PACA-AU 4 186881827 186881827 single base substitution A C upstream_gene_variant PACA-CA 4 186504198 186504198 single base substitution T A downstream_gene_variant PACA-CA 4 186506545 186506545 single base substitution T G downstream_gene_variant PACA-CA 4 186508805 186508805 single base substitution G T exon_variant PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P1093P 3279C>A PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P1193P 3579C>A PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P637P 1911C>A PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P654P 1962C>A PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P659P 1977C>A PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P724P 2172C>A PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P817P 2451C>A PACA-CA 4 186508805 186508805 single base substitution G T synonymous_variant P997P 2991C>A PACA-CA 4 186510732 186510732 single base substitution G A downstream_gene_variant PACA-CA 4 186510732 186510732 single base substitution G A intron_variant PACA-CA 4 186513261 186513261 insertion of <=200bp - A downstream_gene_variant PACA-CA 4 186513261 186513261 insertion of <=200bp - A intron_variant PACA-CA 4 186513261 186513261 insertion of <=200bp - A upstream_gene_variant PACA-CA 4 186518719 186518719 single base substitution G A intron_variant PACA-CA 4 186520872 186520872 single base substitution C T intron_variant PACA-CA 4 186524619 186524619 single base substitution C A downstream_gene_variant PACA-CA 4 186524619 186524619 single base substitution C A intron_variant PACA-CA 4 186525579 186525579 single base substitution G A downstream_gene_variant PACA-CA 4 186525579 186525579 single base substitution G A intron_variant PACA-CA 4 186527314 186527314 single base substitution T A downstream_gene_variant PACA-CA 4 186527314 186527314 single base substitution T A intron_variant PACA-CA 4 186532234 186532234 single base substitution G A downstream_gene_variant PACA-CA 4 186532234 186532234 single base substitution G A intron_variant PACA-CA 4 186538854 186538854 single base substitution C T downstream_gene_variant PACA-CA 4 186538854 186538854 single base substitution C T intron_variant PACA-CA 4 186538854 186538854 single base substitution C T upstream_gene_variant PACA-CA 4 186539230 186539230 single base substitution G A downstream_gene_variant PACA-CA 4 186539230 186539230 single base substitution G A intron_variant PACA-CA 4 186539230 186539230 single base substitution G A upstream_gene_variant PACA-CA 4 186543069 186543069 single base substitution C A downstream_gene_variant PACA-CA 4 186543069 186543069 single base substitution C A intron_variant PACA-CA 4 186544879 186544879 deletion of <=200bp G - downstream_gene_variant PACA-CA 4 186544879 186544879 deletion of <=200bp G - frameshift_variant P468 PACA-CA 4 186544879 186544879 deletion of <=200bp G - frameshift_variant P564 PACA-CA 4 186544879 186544879 deletion of <=200bp G - frameshift_variant P664 PACA-CA 4 186544879 186544879 deletion of <=200bp G - intron_variant PACA-CA 4 186544886 186544886 single base substitution C G downstream_gene_variant PACA-CA 4 186544886 186544886 single base substitution C G intron_variant PACA-CA 4 186544886 186544886 single base substitution C G missense_variant G466A 1397G>C PACA-CA 4 186544886 186544886 single base substitution C G missense_variant G562A 1685G>C PACA-CA 4 186544886 186544886 single base substitution C G missense_variant G662A 1985G>C PACA-CA 4 186555619 186555619 single base substitution C T downstream_gene_variant PACA-CA 4 186555619 186555619 single base substitution C T intron_variant PACA-CA 4 186556828 186556828 single base substitution C T downstream_gene_variant PACA-CA 4 186556828 186556828 single base substitution C T intron_variant PACA-CA 4 186561312 186561312 single base substitution G T intron_variant PACA-CA 4 186561615 186561615 single base substitution T A intron_variant PACA-CA 4 186566633 186566633 single base substitution A C downstream_gene_variant PACA-CA 4 186566633 186566633 single base substitution A C intron_variant PACA-CA 4 186569752 186569752 single base substitution T C downstream_gene_variant PACA-CA 4 186569752 186569752 single base substitution T C intron_variant PACA-CA 4 186579121 186579121 single base substitution A T downstream_gene_variant PACA-CA 4 186579121 186579121 single base substitution A T intron_variant PACA-CA 4 186579121 186579121 single base substitution A T upstream_gene_variant PACA-CA 4 186581255 186581255 single base substitution G T downstream_gene_variant PACA-CA 4 186581255 186581255 single base substitution G T intron_variant PACA-CA 4 186581255 186581255 single base substitution G T upstream_gene_variant PACA-CA 4 186581775 186581775 single base substitution T C downstream_gene_variant PACA-CA 4 186581775 186581775 single base substitution T C intron_variant PACA-CA 4 186581775 186581775 single base substitution T C upstream_gene_variant PACA-CA 4 186587396 186587396 single base substitution T G intron_variant PACA-CA 4 186588074 186588074 single base substitution A G intron_variant PACA-CA 4 186596016 186596016 single base substitution G C downstream_gene_variant PACA-CA 4 186596016 186596016 single base substitution G C intron_variant PACA-CA 4 186596356 186596356 single base substitution A G downstream_gene_variant PACA-CA 4 186596356 186596356 single base substitution A G intron_variant PACA-CA 4 186597470 186597470 single base substitution G C downstream_gene_variant PACA-CA 4 186597470 186597470 single base substitution G C intron_variant PACA-CA 4 186598250 186598250 single base substitution C T downstream_gene_variant PACA-CA 4 186598250 186598250 single base substitution C T intron_variant PACA-CA 4 186598250 186598250 single base substitution C T synonymous_variant Q131Q 393G>A PACA-CA 4 186599411 186599411 single base substitution G C downstream_gene_variant PACA-CA 4 186599411 186599411 single base substitution G C intron_variant PACA-CA 4 186602116 186602116 single base substitution T G downstream_gene_variant PACA-CA 4 186602116 186602116 single base substitution T G intron_variant PACA-CA 4 186602654 186602654 insertion of <=200bp - A downstream_gene_variant PACA-CA 4 186602654 186602654 insertion of <=200bp - A intron_variant PACA-CA 4 186602950 186602950 single base substitution G T downstream_gene_variant PACA-CA 4 186602950 186602950 single base substitution G T intron_variant PACA-CA 4 186602951 186602951 single base substitution C T downstream_gene_variant PACA-CA 4 186602951 186602951 single base substitution C T intron_variant PACA-CA 4 186609005 186609005 single base substitution T A intron_variant PACA-CA 4 186609645 186609645 insertion of <=200bp - TGA intron_variant PACA-CA 4 186611410 186611410 single base substitution G A intron_variant PACA-CA 4 186613143 186613143 single base substitution C T intron_variant PACA-CA 4 186613143 186613143 single base substitution C T upstream_gene_variant PACA-CA 4 186613662 186613662 single base substitution A C intron_variant PACA-CA 4 186613662 186613662 single base substitution A C upstream_gene_variant PACA-CA 4 186618509 186618509 single base substitution G A intron_variant PACA-CA 4 186631298 186631298 insertion of <=200bp - T intron_variant PACA-CA 4 186635041 186635041 single base substitution G C intron_variant PACA-CA 4 186636494 186636494 single base substitution T G intron_variant PACA-CA 4 186637767 186637767 single base substitution G A intron_variant PACA-CA 4 186639320 186639320 single base substitution C T intron_variant PACA-CA 4 186640310 186640310 single base substitution C T intron_variant PACA-CA 4 186641915 186641915 single base substitution T G intron_variant PACA-CA 4 186643732 186643732 insertion of <=200bp - A intron_variant PACA-CA 4 186643795 186643795 deletion of <=200bp A - intron_variant PACA-CA 4 186644805 186644805 single base substitution G A intron_variant PACA-CA 4 186652484 186652484 single base substitution A G intron_variant PACA-CA 4 186652904 186652904 single base substitution A C intron_variant PACA-CA 4 186659059 186659059 single base substitution G A intron_variant PACA-CA 4 186659438 186659438 single base substitution G A intron_variant PACA-CA 4 186659548 186659548 single base substitution A C intron_variant PACA-CA 4 186659707 186659707 single base substitution T G intron_variant PACA-CA 4 186666835 186666835 single base substitution C G intron_variant PACA-CA 4 186671260 186671260 single base substitution C T intron_variant PACA-CA 4 186671889 186671889 single base substitution T C intron_variant PACA-CA 4 186673455 186673455 single base substitution A T downstream_gene_variant PACA-CA 4 186673455 186673455 single base substitution A T intron_variant PACA-CA 4 186674541 186674541 single base substitution T C downstream_gene_variant PACA-CA 4 186674541 186674541 single base substitution T C intron_variant PACA-CA 4 186686279 186686279 single base substitution G A intron_variant PACA-CA 4 186686279 186686279 single base substitution G A upstream_gene_variant PACA-CA 4 186691604 186691604 single base substitution G A downstream_gene_variant PACA-CA 4 186691604 186691604 single base substitution G A intron_variant PACA-CA 4 186693221 186693221 single base substitution G A downstream_gene_variant PACA-CA 4 186693221 186693221 single base substitution G A exon_variant PACA-CA 4 186693221 186693221 single base substitution G A intron_variant PACA-CA 4 186695574 186695574 deletion of <=200bp A - downstream_gene_variant PACA-CA 4 186695574 186695574 deletion of <=200bp A - exon_variant PACA-CA 4 186695574 186695574 deletion of <=200bp A - intron_variant PACA-CA 4 186697643 186697643 single base substitution A C intron_variant PACA-CA 4 186697643 186697643 single base substitution A C upstream_gene_variant PACA-CA 4 186697720 186697720 single base substitution G A intron_variant PACA-CA 4 186697720 186697720 single base substitution G A upstream_gene_variant PACA-CA 4 186700084 186700084 single base substitution A C intron_variant PACA-CA 4 186700084 186700084 single base substitution A C upstream_gene_variant PACA-CA 4 186700766 186700766 single base substitution T A intron_variant PACA-CA 4 186700766 186700766 single base substitution T A upstream_gene_variant PACA-CA 4 186702710 186702710 single base substitution T C intron_variant PACA-CA 4 186711587 186711587 single base substitution A G intron_variant PACA-CA 4 186712863 186712863 insertion of <=200bp - A intron_variant PACA-CA 4 186713181 186713181 single base substitution G T intron_variant PACA-CA 4 186718396 186718396 single base substitution G A intron_variant PACA-CA 4 186723192 186723192 single base substitution C T intron_variant PACA-CA 4 186724469 186724469 insertion of <=200bp - A intron_variant PACA-CA 4 186727296 186727296 single base substitution T A intron_variant PACA-CA 4 186728744 186728744 single base substitution T G intron_variant PACA-CA 4 186731337 186731337 single base substitution C T intron_variant PACA-CA 4 186737213 186737213 single base substitution G T intron_variant PACA-CA 4 186737213 186737213 single base substitution G T upstream_gene_variant PACA-CA 4 186741267 186741267 single base substitution A G intron_variant PACA-CA 4 186742160 186742160 single base substitution G A intron_variant PACA-CA 4 186744613 186744613 single base substitution T A intron_variant PACA-CA 4 186746092 186746092 single base substitution C T intron_variant PACA-CA 4 186748411 186748415 deletion of <=200bp ACCAT - intron_variant PACA-CA 4 186750878 186750878 single base substitution G C intron_variant PACA-CA 4 186751891 186751891 single base substitution A G intron_variant PACA-CA 4 186755615 186755615 insertion of <=200bp - T intron_variant PACA-CA 4 186756248 186756248 single base substitution C T intron_variant PACA-CA 4 186760275 186760275 single base substitution G C intron_variant PACA-CA 4 186765949 186765949 single base substitution T C intron_variant PACA-CA 4 186767146 186767146 insertion of <=200bp - T intron_variant PACA-CA 4 186767462 186767462 single base substitution T C intron_variant PACA-CA 4 186767997 186767997 single base substitution T A intron_variant PACA-CA 4 186770174 186770174 single base substitution G A intron_variant PACA-CA 4 186774030 186774030 single base substitution C T intron_variant PACA-CA 4 186776708 186776708 single base substitution T C intron_variant PACA-CA 4 186790507 186790507 single base substitution T C intron_variant PACA-CA 4 186791156 186791156 single base substitution C G intron_variant PACA-CA 4 186794129 186794129 single base substitution C A intron_variant PACA-CA 4 186795756 186795756 single base substitution G A intron_variant PACA-CA 4 186798859 186798859 deletion of <=200bp A - intron_variant PACA-CA 4 186798957 186798957 insertion of <=200bp - A intron_variant PACA-CA 4 186800006 186800006 single base substitution G A intron_variant PACA-CA 4 186804178 186804178 single base substitution C T intron_variant PACA-CA 4 186806960 186806960 single base substitution C T intron_variant PACA-CA 4 186808354 186808354 single base substitution G A intron_variant PACA-CA 4 186808793 186808793 single base substitution G C intron_variant PACA-CA 4 186809541 186809541 single base substitution A T intron_variant PACA-CA 4 186811274 186811274 single base substitution C G intron_variant PACA-CA 4 186813700 186813700 single base substitution A C intron_variant PACA-CA 4 186818368 186818368 single base substitution G A intron_variant PACA-CA 4 186820618 186820618 single base substitution C T intron_variant PACA-CA 4 186821747 186821747 single base substitution G T intron_variant PACA-CA 4 186826280 186826280 single base substitution A T intron_variant PACA-CA 4 186827564 186827564 single base substitution T C intron_variant PACA-CA 4 186828454 186828454 single base substitution C T intron_variant PACA-CA 4 186829323 186829323 single base substitution C A intron_variant PACA-CA 4 186830447 186830447 single base substitution G A intron_variant PACA-CA 4 186830716 186830716 deletion of <=200bp A - intron_variant PACA-CA 4 186832677 186832706 deletion of <=200bp CCTGATTTTCTCCTTGAGTGCGCAAGTTTC - intron_variant PACA-CA 4 186835009 186835009 single base substitution A G intron_variant PACA-CA 4 186840911 186840911 single base substitution A G intron_variant PACA-CA 4 186841401 186841401 single base substitution T G intron_variant PACA-CA 4 186842273 186842273 single base substitution T C intron_variant PACA-CA 4 186845152 186845152 single base substitution G A intron_variant PACA-CA 4 186847298 186847298 single base substitution C T intron_variant PACA-CA 4 186850967 186850967 single base substitution C T intron_variant PACA-CA 4 186853154 186853154 single base substitution C A intron_variant PACA-CA 4 186853158 186853158 single base substitution A C intron_variant PACA-CA 4 186853738 186853738 single base substitution A G intron_variant PACA-CA 4 186855764 186855764 single base substitution A C intron_variant PACA-CA 4 186855764 186855764 single base substitution A C upstream_gene_variant PACA-CA 4 186857496 186857496 single base substitution A G intron_variant PACA-CA 4 186857496 186857496 single base substitution A G upstream_gene_variant PACA-CA 4 186858324 186858327 deletion of <=200bp AGTG - intron_variant PACA-CA 4 186858324 186858327 deletion of <=200bp AGTG - upstream_gene_variant PACA-CA 4 186859432 186859432 single base substitution G A intron_variant PACA-CA 4 186859432 186859432 single base substitution G A upstream_gene_variant PACA-CA 4 186859671 186859671 single base substitution T A intron_variant PACA-CA 4 186859894 186859894 insertion of <=200bp - C intron_variant PACA-CA 4 186862740 186862740 single base substitution C A intron_variant PACA-CA 4 186868569 186868569 insertion of <=200bp - T intron_variant PACA-CA 4 186869190 186869190 single base substitution T A intron_variant PACA-CA 4 186873083 186873083 single base substitution T A intron_variant PACA-CA 4 186874263 186874263 single base substitution G C intron_variant PACA-CA 4 186877121 186877121 single base substitution G T intron_variant PACA-CA 4 186878972 186878972 single base substitution A C upstream_gene_variant PAEN-AU 4 186521308 186521308 single base substitution C G intron_variant PAEN-AU 4 186540293 186540293 single base substitution G A intron_variant PAEN-AU 4 186540293 186540293 single base substitution G A upstream_gene_variant PAEN-AU 4 186546073 186546073 single base substitution G A downstream_gene_variant PAEN-AU 4 186546073 186546073 single base substitution G A intron_variant PAEN-AU 4 186560079 186560079 single base substitution A C exon_variant PAEN-AU 4 186560079 186560079 single base substitution A C intron_variant PAEN-AU 4 186560079 186560079 single base substitution A C missense_variant S162R 486T>G PAEN-AU 4 186560079 186560079 single base substitution A C missense_variant S311R 933T>G PAEN-AU 4 186560079 186560079 single base substitution A C missense_variant S351R 1053T>G PAEN-AU 4 186560079 186560079 single base substitution A C missense_variant S444R 1332T>G PAEN-AU 4 186562437 186562437 single base substitution A C downstream_gene_variant PAEN-AU 4 186562437 186562437 single base substitution A C intron_variant PAEN-AU 4 186573422 186573422 single base substitution T C downstream_gene_variant PAEN-AU 4 186573422 186573422 single base substitution T C intron_variant PAEN-AU 4 186573422 186573422 single base substitution T C upstream_gene_variant PAEN-AU 4 186747611 186747611 single base substitution C T intron_variant PAEN-AU 4 186748451 186748451 single base substitution T C intron_variant PAEN-AU 4 186759532 186759532 single base substitution G A intron_variant PAEN-AU 4 186764484 186764484 single base substitution T C intron_variant PAEN-IT 4 186525133 186525133 single base substitution C T downstream_gene_variant PAEN-IT 4 186525133 186525133 single base substitution C T intron_variant PAEN-IT 4 186530979 186530979 single base substitution C T downstream_gene_variant PAEN-IT 4 186530979 186530979 single base substitution C T intron_variant PAEN-IT 4 186532269 186532269 single base substitution C T downstream_gene_variant PAEN-IT 4 186532269 186532269 single base substitution C T intron_variant PAEN-IT 4 186540099 186540099 single base substitution C G intron_variant PAEN-IT 4 186540099 186540099 single base substitution C G upstream_gene_variant PAEN-IT 4 186543442 186543442 single base substitution G A downstream_gene_variant PAEN-IT 4 186543442 186543442 single base substitution G A intron_variant PAEN-IT 4 186560312 186560312 single base substitution G A intron_variant PAEN-IT 4 186566219 186566219 single base substitution G A downstream_gene_variant PAEN-IT 4 186566219 186566219 single base substitution G A intron_variant PAEN-IT 4 186603255 186603255 single base substitution T C downstream_gene_variant PAEN-IT 4 186603255 186603255 single base substitution T C intron_variant PAEN-IT 4 186605003 186605003 single base substitution T C downstream_gene_variant PAEN-IT 4 186605003 186605003 single base substitution T C intron_variant PAEN-IT 4 186774945 186774945 single base substitution G T intron_variant PAEN-IT 4 186790506 186790506 single base substitution G C intron_variant PAEN-IT 4 186845264 186845264 single base substitution G A intron_variant PAEN-IT 4 186849859 186849859 single base substitution C A intron_variant PAEN-IT 4 186864817 186864817 single base substitution G A intron_variant PBCA-DE 4 186504911 186504911 single base substitution T G downstream_gene_variant PBCA-DE 4 186505497 186505497 single base substitution G A downstream_gene_variant PBCA-DE 4 186505994 186505994 single base substitution A C downstream_gene_variant PBCA-DE 4 186514737 186514737 single base substitution G A downstream_gene_variant PBCA-DE 4 186514737 186514737 single base substitution G A intron_variant PBCA-DE 4 186514737 186514737 single base substitution G A upstream_gene_variant PBCA-DE 4 186518871 186518871 single base substitution G A intron_variant PBCA-DE 4 186520038 186520041 deletion of <=200bp AAAA - intron_variant PBCA-DE 4 186525781 186525781 single base substitution G A downstream_gene_variant PBCA-DE 4 186525781 186525781 single base substitution G A intron_variant PBCA-DE 4 186533832 186533832 deletion of <=200bp A - downstream_gene_variant PBCA-DE 4 186533832 186533832 deletion of <=200bp A - intron_variant PBCA-DE 4 186542899 186542899 deletion of <=200bp T - downstream_gene_variant PBCA-DE 4 186542899 186542899 deletion of <=200bp T - intron_variant PBCA-DE 4 186543374 186543374 single base substitution A C downstream_gene_variant PBCA-DE 4 186543374 186543374 single base substitution A C intron_variant PBCA-DE 4 186559117 186559117 single base substitution C T downstream_gene_variant PBCA-DE 4 186559117 186559117 single base substitution C T intron_variant PBCA-DE 4 186568073 186568073 single base substitution G A intron_variant PBCA-DE 4 186571290 186571290 single base substitution A T downstream_gene_variant PBCA-DE 4 186571290 186571290 single base substitution A T intron_variant PBCA-DE 4 186571290 186571290 single base substitution A T upstream_gene_variant PBCA-DE 4 186573145 186573145 single base substitution G T downstream_gene_variant PBCA-DE 4 186573145 186573145 single base substitution G T intron_variant PBCA-DE 4 186573145 186573145 single base substitution G T upstream_gene_variant PBCA-DE 4 186574592 186574592 single base substitution G T downstream_gene_variant PBCA-DE 4 186574592 186574592 single base substitution G T intron_variant PBCA-DE 4 186574592 186574592 single base substitution G T upstream_gene_variant PBCA-DE 4 186581173 186581173 single base substitution G T downstream_gene_variant PBCA-DE 4 186581173 186581173 single base substitution G T intron_variant PBCA-DE 4 186581173 186581173 single base substitution G T upstream_gene_variant PBCA-DE 4 186587105 186587105 single base substitution T G downstream_gene_variant PBCA-DE 4 186587105 186587105 single base substitution T G intron_variant PBCA-DE 4 186592827 186592827 single base substitution G T intron_variant PBCA-DE 4 186605645 186605645 deletion of <=200bp A - downstream_gene_variant PBCA-DE 4 186605645 186605645 deletion of <=200bp A - intron_variant PBCA-DE 4 186613892 186613892 single base substitution G T intron_variant PBCA-DE 4 186613892 186613892 single base substitution G T upstream_gene_variant PBCA-DE 4 186615830 186615830 insertion of <=200bp - T intron_variant PBCA-DE 4 186615830 186615830 insertion of <=200bp - T upstream_gene_variant PBCA-DE 4 186618178 186618178 single base substitution A G intron_variant PBCA-DE 4 186621512 186621512 single base substitution T G intron_variant PBCA-DE 4 186631299 186631299 insertion of <=200bp - T intron_variant PBCA-DE 4 186639055 186639055 single base substitution C T intron_variant PBCA-DE 4 186647124 186647124 insertion of <=200bp - T intron_variant PBCA-DE 4 186651297 186651297 single base substitution G A intron_variant PBCA-DE 4 186656818 186656818 single base substitution C T intron_variant PBCA-DE 4 186664542 186664542 single base substitution T G intron_variant PBCA-DE 4 186664542 186664542 single base substitution T G upstream_gene_variant PBCA-DE 4 186670101 186670101 single base substitution G A intron_variant PBCA-DE 4 186675505 186675505 single base substitution G T downstream_gene_variant PBCA-DE 4 186675505 186675505 single base substitution G T intron_variant PBCA-DE 4 186680663 186680663 single base substitution G A intron_variant PBCA-DE 4 186686994 186686994 insertion of <=200bp - T intron_variant PBCA-DE 4 186686994 186686994 insertion of <=200bp - T upstream_gene_variant PBCA-DE 4 186688300 186688300 single base substitution C T downstream_gene_variant PBCA-DE 4 186688300 186688300 single base substitution C T intron_variant PBCA-DE 4 186688465 186688466 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 4 186688465 186688466 deletion of <=200bp AC - intron_variant PBCA-DE 4 186702630 186702630 single base substitution C A intron_variant PBCA-DE 4 186702710 186702710 single base substitution T C intron_variant PBCA-DE 4 186707604 186707604 single base substitution C T intron_variant PBCA-DE 4 186708619 186708619 single base substitution C T intron_variant PBCA-DE 4 186723346 186723346 single base substitution C T intron_variant PBCA-DE 4 186726674 186726674 single base substitution C T intron_variant PBCA-DE 4 186729943 186729943 single base substitution G T intron_variant PBCA-DE 4 186734876 186734876 single base substitution T C intron_variant PBCA-DE 4 186734876 186734876 single base substitution T C upstream_gene_variant PBCA-DE 4 186737057 186737057 single base substitution T C intron_variant PBCA-DE 4 186737057 186737057 single base substitution T C upstream_gene_variant PBCA-DE 4 186739114 186739114 single base substitution G A intron_variant PBCA-DE 4 186739114 186739114 single base substitution G A upstream_gene_variant PBCA-DE 4 186739375 186739375 single base substitution G A intron_variant PBCA-DE 4 186740198 186740198 single base substitution G C intron_variant PBCA-DE 4 186746758 186746758 single base substitution G C intron_variant PBCA-DE 4 186748721 186748721 single base substitution T C intron_variant PBCA-DE 4 186748748 186748748 single base substitution T C intron_variant PBCA-DE 4 186748832 186748832 single base substitution T C intron_variant PBCA-DE 4 186749090 186749092 deletion of <=200bp CAT - intron_variant PBCA-DE 4 186749127 186749127 insertion of <=200bp - ACCA intron_variant PBCA-DE 4 186749570 186749570 single base substitution T A intron_variant PBCA-DE 4 186756913 186756913 single base substitution C G intron_variant PBCA-DE 4 186759476 186759476 single base substitution G A intron_variant PBCA-DE 4 186760842 186760842 single base substitution C T intron_variant PBCA-DE 4 186761504 186761504 single base substitution G T intron_variant PBCA-DE 4 186763193 186763193 single base substitution C T intron_variant PBCA-DE 4 186768206 186768206 single base substitution T C intron_variant PBCA-DE 4 186786833 186786833 single base substitution C T intron_variant PBCA-DE 4 186792975 186792975 single base substitution C T intron_variant PBCA-DE 4 186795428 186795428 single base substitution G A intron_variant PBCA-DE 4 186796013 186796013 deletion of <=200bp T - intron_variant PBCA-DE 4 186797264 186797264 single base substitution A T intron_variant PBCA-DE 4 186798016 186798016 single base substitution T C intron_variant PBCA-DE 4 186802223 186802223 single base substitution G A intron_variant PBCA-DE 4 186803879 186803879 single base substitution C G intron_variant PBCA-DE 4 186812244 186812267 deletion of <=200bp ATTCTGCTTATTCTTTGTTTTTTA - intron_variant PBCA-DE 4 186820994 186820994 single base substitution C T intron_variant PBCA-DE 4 186821946 186821947 deletion of <=200bp AG - intron_variant PBCA-DE 4 186827305 186827305 single base substitution A C intron_variant PBCA-DE 4 186832025 186832025 single base substitution C T intron_variant PBCA-DE 4 186833536 186833536 single base substitution C T intron_variant PBCA-DE 4 186834641 186834641 single base substitution T A intron_variant PBCA-DE 4 186837892 186837892 single base substitution C T intron_variant PBCA-DE 4 186841081 186841081 single base substitution G A intron_variant PBCA-DE 4 186842329 186842329 single base substitution C A intron_variant PBCA-DE 4 186844625 186844626 deletion of <=200bp AA - intron_variant PBCA-DE 4 186852962 186852962 single base substitution G C intron_variant PBCA-DE 4 186852978 186852978 single base substitution T C intron_variant PBCA-DE 4 186852979 186852979 single base substitution G A intron_variant PBCA-DE 4 186858324 186858327 deletion of <=200bp AGTG - intron_variant PBCA-DE 4 186858324 186858327 deletion of <=200bp AGTG - upstream_gene_variant PBCA-DE 4 186865490 186865490 single base substitution G C intron_variant PBCA-DE 4 186881044 186881044 single base substitution A C upstream_gene_variant PBCA-DE 4 186881807 186881807 single base substitution C A upstream_gene_variant PRAD-CA 4 186528184 186528184 single base substitution G A exon_variant PRAD-CA 4 186528184 186528184 single base substitution G A intron_variant PRAD-CA 4 186563958 186563958 single base substitution C A downstream_gene_variant PRAD-CA 4 186563958 186563958 single base substitution C A intron_variant PRAD-CA 4 186582392 186582392 single base substitution T G downstream_gene_variant PRAD-CA 4 186582392 186582392 single base substitution T G intron_variant PRAD-CA 4 186582392 186582392 single base substitution T G upstream_gene_variant PRAD-CA 4 186602396 186602396 single base substitution T C downstream_gene_variant PRAD-CA 4 186602396 186602396 single base substitution T C intron_variant PRAD-CA 4 186617091 186617091 single base substitution G C intron_variant PRAD-CA 4 186617391 186617391 single base substitution A G intron_variant PRAD-CA 4 186642353 186642353 single base substitution T G intron_variant PRAD-CA 4 186643688 186643688 single base substitution A C intron_variant PRAD-CA 4 186703539 186703539 single base substitution C T intron_variant PRAD-CA 4 186719676 186719676 single base substitution C A intron_variant PRAD-CA 4 186722819 186722819 single base substitution C T intron_variant PRAD-CA 4 186724070 186724070 single base substitution T C intron_variant PRAD-CA 4 186738159 186738159 single base substitution A C intron_variant PRAD-CA 4 186738159 186738159 single base substitution A C upstream_gene_variant PRAD-CA 4 186749142 186749142 single base substitution T C intron_variant PRAD-CA 4 186760235 186760235 single base substitution G T intron_variant PRAD-CA 4 186775957 186775957 single base substitution G T intron_variant PRAD-CA 4 186788676 186788676 single base substitution A G intron_variant PRAD-CA 4 186793557 186793557 single base substitution G T intron_variant PRAD-CA 4 186795606 186795606 single base substitution C A intron_variant PRAD-CA 4 186816860 186816860 single base substitution G T intron_variant PRAD-CA 4 186821152 186821152 single base substitution G T intron_variant PRAD-CA 4 186830571 186830571 single base substitution G C intron_variant PRAD-CA 4 186852849 186852849 single base substitution G A intron_variant PRAD-CA 4 186853156 186853156 single base substitution C A intron_variant PRAD-CA 4 186864892 186864892 single base substitution C T intron_variant PRAD-UK 4 186521654 186521654 single base substitution A G intron_variant PRAD-UK 4 186545944 186545944 deletion of <=200bp C - downstream_gene_variant PRAD-UK 4 186545944 186545944 deletion of <=200bp C - intron_variant PRAD-UK 4 186546066 186546066 single base substitution T C downstream_gene_variant PRAD-UK 4 186546066 186546066 single base substitution T C intron_variant PRAD-UK 4 186558854 186558854 single base substitution C A downstream_gene_variant PRAD-UK 4 186558854 186558854 single base substitution C A intron_variant PRAD-UK 4 186573964 186573964 single base substitution T C downstream_gene_variant PRAD-UK 4 186573964 186573964 single base substitution T C intron_variant PRAD-UK 4 186573964 186573964 single base substitution T C upstream_gene_variant PRAD-UK 4 186576851 186576851 single base substitution A C downstream_gene_variant PRAD-UK 4 186576851 186576851 single base substitution A C intron_variant PRAD-UK 4 186576851 186576851 single base substitution A C upstream_gene_variant PRAD-UK 4 186578614 186578614 deletion of <=200bp G - downstream_gene_variant PRAD-UK 4 186578614 186578614 deletion of <=200bp G - exon_variant PRAD-UK 4 186578614 186578614 deletion of <=200bp G - frameshift_variant P123 PRAD-UK 4 186578614 186578614 deletion of <=200bp G - frameshift_variant P146 PRAD-UK 4 186578614 186578614 deletion of <=200bp G - frameshift_variant P163 PRAD-UK 4 186578614 186578614 deletion of <=200bp G - frameshift_variant P177 PRAD-UK 4 186578614 186578614 deletion of <=200bp G - frameshift_variant P20 PRAD-UK 4 186578614 186578614 deletion of <=200bp G - frameshift_variant P256 PRAD-UK 4 186578614 186578614 deletion of <=200bp G - frameshift_variant P77 PRAD-UK 4 186578614 186578614 deletion of <=200bp G - upstream_gene_variant PRAD-UK 4 186583259 186583259 single base substitution G T downstream_gene_variant PRAD-UK 4 186583259 186583259 single base substitution G T splice_region_variant PRAD-UK 4 186583259 186583259 single base substitution G T upstream_gene_variant PRAD-UK 4 186593797 186593799 deletion of <=200bp TTC - downstream_gene_variant PRAD-UK 4 186593797 186593799 deletion of <=200bp TTC - intron_variant PRAD-UK 4 186599054 186599054 single base substitution T C downstream_gene_variant PRAD-UK 4 186599054 186599054 single base substitution T C intron_variant PRAD-UK 4 186600320 186600320 insertion of <=200bp - CAG intron_variant PRAD-UK 4 186600325 186600325 single base substitution C G intron_variant PRAD-UK 4 186605121 186605121 single base substitution A C downstream_gene_variant PRAD-UK 4 186605121 186605121 single base substitution A C intron_variant PRAD-UK 4 186614635 186614635 single base substitution A G intron_variant PRAD-UK 4 186614635 186614635 single base substitution A G upstream_gene_variant PRAD-UK 4 186650377 186650377 single base substitution A G intron_variant PRAD-UK 4 186653012 186653012 single base substitution C A intron_variant PRAD-UK 4 186664822 186664822 single base substitution T G intron_variant PRAD-UK 4 186664822 186664822 single base substitution T G upstream_gene_variant PRAD-UK 4 186670525 186670525 single base substitution A T intron_variant PRAD-UK 4 186674027 186674027 single base substitution G A downstream_gene_variant PRAD-UK 4 186674027 186674027 single base substitution G A intron_variant PRAD-UK 4 186693629 186693629 single base substitution G A downstream_gene_variant PRAD-UK 4 186693629 186693629 single base substitution G A exon_variant PRAD-UK 4 186693629 186693629 single base substitution G A intron_variant PRAD-UK 4 186702736 186702736 single base substitution G A intron_variant PRAD-UK 4 186713868 186713868 single base substitution G C intron_variant PRAD-UK 4 186725261 186725261 single base substitution A T intron_variant PRAD-UK 4 186740284 186740284 single base substitution G A intron_variant PRAD-UK 4 186762120 186762120 single base substitution T C intron_variant PRAD-UK 4 186765162 186765162 single base substitution G A intron_variant PRAD-UK 4 186780743 186780743 single base substitution C A intron_variant PRAD-UK 4 186798905 186798905 single base substitution T A intron_variant PRAD-UK 4 186814002 186814002 single base substitution A C intron_variant PRAD-UK 4 186814961 186814961 single base substitution G T intron_variant PRAD-UK 4 186817744 186817744 single base substitution A G intron_variant PRAD-UK 4 186817753 186817753 single base substitution A C intron_variant PRAD-UK 4 186819046 186819046 single base substitution C G intron_variant PRAD-UK 4 186821997 186821997 deletion of <=200bp A - intron_variant PRAD-UK 4 186825991 186826009 deletion of <=200bp GCTCATGCCTGTAATCCCA - intron_variant PRAD-UK 4 186832112 186832112 single base substitution T A intron_variant PRAD-UK 4 186832115 186832115 single base substitution A T intron_variant PRAD-UK 4 186841882 186841882 single base substitution T G intron_variant PRAD-UK 4 186849991 186849991 single base substitution C T intron_variant PRAD-UK 4 186858974 186858974 single base substitution T C intron_variant PRAD-UK 4 186858974 186858974 single base substitution T C upstream_gene_variant PRAD-UK 4 186878486 186878486 single base substitution G A upstream_gene_variant PRAD-UK 4 186881020 186881020 single base substitution C T upstream_gene_variant READ-US 4 186544776 186544776 single base substitution C T downstream_gene_variant READ-US 4 186544776 186544776 single base substitution C T intron_variant READ-US 4 186544776 186544776 single base substitution C T missense_variant D503N 1507G>A READ-US 4 186544776 186544776 single base substitution C T missense_variant D599N 1795G>A READ-US 4 186544776 186544776 single base substitution C T missense_variant D699N 2095G>A READ-US 4 186567839 186567839 single base substitution G T exon_variant READ-US 4 186567839 186567839 single base substitution G T intron_variant READ-US 4 186567839 186567839 single base substitution G T missense_variant L120I 358C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L127I 379C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L166I 496C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L223I 667C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L269I 805C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L292I 874C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L294I 880C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L309I 925C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L323I 967C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L402I 1204C>A READ-US 4 186567839 186567839 single base substitution G T missense_variant L80I 238C>A READ-US 4 186598368 186598368 single base substitution G A downstream_gene_variant READ-US 4 186598368 186598368 single base substitution G A intron_variant READ-US 4 186598368 186598368 single base substitution G A missense_variant P92L 275C>T RECA-EU 4 186511935 186511935 single base substitution A G downstream_gene_variant RECA-EU 4 186511935 186511935 single base substitution A G intron_variant RECA-EU 4 186511935 186511935 single base substitution A G upstream_gene_variant RECA-EU 4 186512694 186512694 single base substitution G A downstream_gene_variant RECA-EU 4 186512694 186512694 single base substitution G A intron_variant RECA-EU 4 186512694 186512694 single base substitution G A upstream_gene_variant RECA-EU 4 186536619 186536619 single base substitution G C downstream_gene_variant RECA-EU 4 186536619 186536619 single base substitution G C intron_variant RECA-EU 4 186536619 186536619 single base substitution G C upstream_gene_variant RECA-EU 4 186543538 186543538 single base substitution G T downstream_gene_variant RECA-EU 4 186543538 186543538 single base substitution G T intron_variant RECA-EU 4 186555802 186555802 single base substitution T A downstream_gene_variant RECA-EU 4 186555802 186555802 single base substitution T A intron_variant RECA-EU 4 186568225 186568225 single base substitution A C intron_variant RECA-EU 4 186570213 186570213 single base substitution C T downstream_gene_variant RECA-EU 4 186570213 186570213 single base substitution C T intron_variant RECA-EU 4 186583621 186583621 single base substitution G T downstream_gene_variant RECA-EU 4 186583621 186583621 single base substitution G T intron_variant RECA-EU 4 186583621 186583621 single base substitution G T upstream_gene_variant RECA-EU 4 186603628 186603628 single base substitution A G downstream_gene_variant RECA-EU 4 186603628 186603628 single base substitution A G intron_variant RECA-EU 4 186615491 186615491 single base substitution A C intron_variant RECA-EU 4 186615491 186615491 single base substitution A C upstream_gene_variant RECA-EU 4 186615763 186615763 single base substitution T C intron_variant RECA-EU 4 186615763 186615763 single base substitution T C upstream_gene_variant RECA-EU 4 186624337 186624337 single base substitution T C intron_variant RECA-EU 4 186632601 186632601 single base substitution T A intron_variant RECA-EU 4 186639645 186639645 single base substitution A G intron_variant RECA-EU 4 186651774 186651774 single base substitution A T intron_variant RECA-EU 4 186659425 186659425 single base substitution A C intron_variant RECA-EU 4 186659550 186659550 single base substitution C G intron_variant RECA-EU 4 186667487 186667487 single base substitution T G intron_variant RECA-EU 4 186670568 186670568 single base substitution G A intron_variant RECA-EU 4 186670899 186670899 single base substitution A T intron_variant RECA-EU 4 186672344 186672344 single base substitution A G intron_variant RECA-EU 4 186678045 186678045 single base substitution G A downstream_gene_variant RECA-EU 4 186678045 186678045 single base substitution G A intron_variant RECA-EU 4 186701882 186701882 single base substitution T C intron_variant RECA-EU 4 186701882 186701882 single base substitution T C upstream_gene_variant RECA-EU 4 186702852 186702852 single base substitution C G intron_variant RECA-EU 4 186703933 186703933 single base substitution A G intron_variant RECA-EU 4 186711245 186711245 single base substitution T A intron_variant RECA-EU 4 186711470 186711470 single base substitution T C intron_variant RECA-EU 4 186714174 186714174 single base substitution A G intron_variant RECA-EU 4 186715255 186715255 single base substitution T A intron_variant RECA-EU 4 186719075 186719075 single base substitution A T intron_variant RECA-EU 4 186728216 186728216 single base substitution A G intron_variant RECA-EU 4 186742098 186742098 single base substitution T C intron_variant RECA-EU 4 186748868 186748868 single base substitution C T intron_variant RECA-EU 4 186749145 186749145 single base substitution T C intron_variant RECA-EU 4 186750715 186750715 single base substitution G C intron_variant RECA-EU 4 186775871 186775871 single base substitution T C intron_variant RECA-EU 4 186780410 186780410 single base substitution T A intron_variant RECA-EU 4 186790894 186790894 single base substitution C T intron_variant RECA-EU 4 186791771 186791771 single base substitution G A intron_variant RECA-EU 4 186806374 186806374 single base substitution G A intron_variant RECA-EU 4 186827506 186827506 single base substitution T A intron_variant RECA-EU 4 186848572 186848572 single base substitution C A intron_variant RECA-EU 4 186848801 186848801 single base substitution T A intron_variant RECA-EU 4 186864552 186864552 single base substitution G A intron_variant RECA-EU 4 186870175 186870175 single base substitution G A intron_variant RECA-EU 4 186874944 186874944 single base substitution A C intron_variant RECA-EU 4 186877425 186877425 single base substitution G A 5_prime_UTR_variant RECA-EU 4 186877425 186877425 single base substitution G A exon_variant SKCA-BR 4 186505317 186505318 deletion of <=200bp GC - downstream_gene_variant SKCA-BR 4 186505317 186505319 deletion of <=200bp GCT - downstream_gene_variant SKCA-BR 4 186505836 186505836 single base substitution G A downstream_gene_variant SKCA-BR 4 186509741 186509741 insertion of <=200bp - TCTCCTTCCTCCTC intron_variant SKCA-BR 4 186509746 186509746 insertion of <=200bp - TTCCTCCTCCTCCTCCCTCCTCCTCCTCC intron_variant SKCA-BR 4 186509747 186509747 single base substitution C T intron_variant SKCA-BR 4 186511493 186511494 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 4 186511493 186511494 deletion of <=200bp TA - intron_variant SKCA-BR 4 186511493 186511494 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 4 186511497 186511497 single base substitution A G downstream_gene_variant SKCA-BR 4 186511497 186511497 single base substitution A G intron_variant SKCA-BR 4 186511497 186511497 single base substitution A G upstream_gene_variant SKCA-BR 4 186514152 186514152 single base substitution G A downstream_gene_variant SKCA-BR 4 186514152 186514152 single base substitution G A intron_variant SKCA-BR 4 186514152 186514152 single base substitution G A upstream_gene_variant SKCA-BR 4 186517002 186517002 single base substitution T C intron_variant SKCA-BR 4 186525001 186525001 single base substitution G A downstream_gene_variant SKCA-BR 4 186525001 186525001 single base substitution G A intron_variant SKCA-BR 4 186525128 186525128 single base substitution A C downstream_gene_variant SKCA-BR 4 186525128 186525128 single base substitution A C intron_variant SKCA-BR 4 186525867 186525867 single base substitution C T downstream_gene_variant SKCA-BR 4 186525867 186525867 single base substitution C T intron_variant SKCA-BR 4 186527552 186527552 single base substitution T C downstream_gene_variant SKCA-BR 4 186527552 186527552 single base substitution T C intron_variant SKCA-BR 4 186528109 186528109 single base substitution T C downstream_gene_variant SKCA-BR 4 186528109 186528109 single base substitution T C intron_variant SKCA-BR 4 186528210 186528210 single base substitution T G exon_variant SKCA-BR 4 186528210 186528210 single base substitution T G intron_variant SKCA-BR 4 186528224 186528224 single base substitution A G exon_variant SKCA-BR 4 186528224 186528224 single base substitution A G intron_variant SKCA-BR 4 186528879 186528879 single base substitution C T intron_variant SKCA-BR 4 186531879 186531879 single base substitution T A downstream_gene_variant SKCA-BR 4 186531879 186531879 single base substitution T A intron_variant SKCA-BR 4 186532210 186532210 single base substitution G A downstream_gene_variant SKCA-BR 4 186532210 186532210 single base substitution G A intron_variant SKCA-BR 4 186533645 186533645 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 4 186533645 186533645 insertion of <=200bp - AT intron_variant SKCA-BR 4 186533858 186533858 single base substitution G A downstream_gene_variant SKCA-BR 4 186533858 186533858 single base substitution G A intron_variant SKCA-BR 4 186536230 186536230 single base substitution C T downstream_gene_variant SKCA-BR 4 186536230 186536230 single base substitution C T exon_variant SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R1008K 3023G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R257K 770G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R452K 1355G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R469K 1406G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R474K 1421G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R499K 1496G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R539K 1616G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R632K 1895G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R812K 2435G>A SKCA-BR 4 186536230 186536230 single base substitution C T missense_variant R908K 2723G>A SKCA-BR 4 186538427 186538427 single base substitution G A downstream_gene_variant SKCA-BR 4 186538427 186538427 single base substitution G A intron_variant SKCA-BR 4 186538427 186538427 single base substitution G A upstream_gene_variant SKCA-BR 4 186538770 186538770 single base substitution A C downstream_gene_variant SKCA-BR 4 186538770 186538770 single base substitution A C intron_variant SKCA-BR 4 186538770 186538770 single base substitution A C upstream_gene_variant SKCA-BR 4 186550317 186550317 single base substitution G A downstream_gene_variant SKCA-BR 4 186550317 186550317 single base substitution G A intron_variant SKCA-BR 4 186550317 186550317 single base substitution G A upstream_gene_variant SKCA-BR 4 186550714 186550714 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 4 186550714 186550714 insertion of <=200bp - AT intron_variant SKCA-BR 4 186550714 186550714 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 4 186551139 186551139 single base substitution C T downstream_gene_variant SKCA-BR 4 186551139 186551139 single base substitution C T intron_variant SKCA-BR 4 186551139 186551139 single base substitution C T upstream_gene_variant SKCA-BR 4 186551624 186551624 single base substitution T G downstream_gene_variant SKCA-BR 4 186551624 186551624 single base substitution T G intron_variant SKCA-BR 4 186551624 186551624 single base substitution T G upstream_gene_variant SKCA-BR 4 186552845 186552845 single base substitution G A intron_variant SKCA-BR 4 186552845 186552845 single base substitution G A upstream_gene_variant SKCA-BR 4 186552914 186552914 insertion of <=200bp - CT intron_variant SKCA-BR 4 186552914 186552914 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 4 186553970 186553970 single base substitution C T intron_variant SKCA-BR 4 186554943 186554943 single base substitution C T intron_variant SKCA-BR 4 186554944 186554944 single base substitution T A intron_variant SKCA-BR 4 186556039 186556039 single base substitution T C downstream_gene_variant SKCA-BR 4 186556039 186556039 single base substitution T C intron_variant SKCA-BR 4 186556472 186556472 single base substitution G A downstream_gene_variant SKCA-BR 4 186556472 186556472 single base substitution G A intron_variant SKCA-BR 4 186557000 186557005 deletion of <=200bp ATTATT - downstream_gene_variant SKCA-BR 4 186557000 186557005 deletion of <=200bp ATTATT - intron_variant SKCA-BR 4 186557725 186557725 single base substitution G A downstream_gene_variant SKCA-BR 4 186557725 186557725 single base substitution G A intron_variant SKCA-BR 4 186560645 186560645 single base substitution A T intron_variant SKCA-BR 4 186562914 186562914 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 4 186562914 186562914 insertion of <=200bp - TA intron_variant SKCA-BR 4 186563666 186563666 single base substitution G A downstream_gene_variant SKCA-BR 4 186563666 186563666 single base substitution G A intron_variant SKCA-BR 4 186564110 186564110 single base substitution C T downstream_gene_variant SKCA-BR 4 186564110 186564110 single base substitution C T intron_variant SKCA-BR 4 186564608 186564608 single base substitution G A downstream_gene_variant SKCA-BR 4 186564608 186564608 single base substitution G A intron_variant SKCA-BR 4 186566561 186566561 single base substitution C T downstream_gene_variant SKCA-BR 4 186566561 186566561 single base substitution C T intron_variant SKCA-BR 4 186570537 186570537 single base substitution T G downstream_gene_variant SKCA-BR 4 186570537 186570537 single base substitution T G intron_variant SKCA-BR 4 186570578 186570578 single base substitution A T downstream_gene_variant SKCA-BR 4 186570578 186570578 single base substitution A T intron_variant SKCA-BR 4 186570587 186570587 single base substitution G A downstream_gene_variant SKCA-BR 4 186570587 186570587 single base substitution G A intron_variant SKCA-BR 4 186570610 186570610 single base substitution A G downstream_gene_variant SKCA-BR 4 186570610 186570610 single base substitution A G intron_variant SKCA-BR 4 186571742 186571742 single base substitution A T downstream_gene_variant SKCA-BR 4 186571742 186571742 single base substitution A T intron_variant SKCA-BR 4 186571742 186571742 single base substitution A T upstream_gene_variant SKCA-BR 4 186574534 186574534 single base substitution G A downstream_gene_variant SKCA-BR 4 186574534 186574534 single base substitution G A intron_variant SKCA-BR 4 186574534 186574534 single base substitution G A upstream_gene_variant SKCA-BR 4 186575323 186575323 single base substitution G T downstream_gene_variant SKCA-BR 4 186575323 186575323 single base substitution G T intron_variant SKCA-BR 4 186575323 186575323 single base substitution G T upstream_gene_variant SKCA-BR 4 186575954 186575954 single base substitution A C downstream_gene_variant SKCA-BR 4 186575954 186575954 single base substitution A C intron_variant SKCA-BR 4 186575954 186575954 single base substitution A C upstream_gene_variant SKCA-BR 4 186575961 186575961 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 4 186575961 186575961 insertion of <=200bp - CA intron_variant SKCA-BR 4 186575961 186575961 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 4 186576354 186576354 single base substitution G C downstream_gene_variant SKCA-BR 4 186576354 186576354 single base substitution G C intron_variant SKCA-BR 4 186576354 186576354 single base substitution G C upstream_gene_variant SKCA-BR 4 186577610 186577610 single base substitution C T downstream_gene_variant SKCA-BR 4 186577610 186577610 single base substitution C T intron_variant SKCA-BR 4 186577610 186577610 single base substitution C T upstream_gene_variant SKCA-BR 4 186580165 186580165 single base substitution G A downstream_gene_variant SKCA-BR 4 186580165 186580165 single base substitution G A intron_variant SKCA-BR 4 186580165 186580165 single base substitution G A upstream_gene_variant SKCA-BR 4 186580785 186580785 single base substitution C T downstream_gene_variant SKCA-BR 4 186580785 186580785 single base substitution C T intron_variant SKCA-BR 4 186580785 186580785 single base substitution C T upstream_gene_variant SKCA-BR 4 186583968 186583968 single base substitution G A downstream_gene_variant SKCA-BR 4 186583968 186583968 single base substitution G A intron_variant SKCA-BR 4 186584215 186584215 single base substitution C T downstream_gene_variant SKCA-BR 4 186584215 186584215 single base substitution C T intron_variant SKCA-BR 4 186585143 186585143 single base substitution G A downstream_gene_variant SKCA-BR 4 186585143 186585143 single base substitution G A intron_variant SKCA-BR 4 186590115 186590115 single base substitution G A intron_variant SKCA-BR 4 186590692 186590692 single base substitution G A intron_variant SKCA-BR 4 186591182 186591182 single base substitution G A intron_variant SKCA-BR 4 186591744 186591744 single base substitution G A intron_variant SKCA-BR 4 186592753 186592753 single base substitution C T intron_variant SKCA-BR 4 186592920 186592920 single base substitution C T intron_variant SKCA-BR 4 186595233 186595233 single base substitution C T downstream_gene_variant SKCA-BR 4 186595233 186595233 single base substitution C T intron_variant SKCA-BR 4 186596783 186596783 single base substitution A G downstream_gene_variant SKCA-BR 4 186596783 186596783 single base substitution A G intron_variant SKCA-BR 4 186598880 186598880 single base substitution A G downstream_gene_variant SKCA-BR 4 186598880 186598880 single base substitution A G intron_variant SKCA-BR 4 186599983 186599983 single base substitution G A splice_region_variant SKCA-BR 4 186604168 186604168 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 4 186604168 186604168 insertion of <=200bp - CA intron_variant SKCA-BR 4 186604200 186604200 single base substitution G A downstream_gene_variant SKCA-BR 4 186604200 186604200 single base substitution G A intron_variant SKCA-BR 4 186605223 186605223 single base substitution G A downstream_gene_variant SKCA-BR 4 186605223 186605223 single base substitution G A intron_variant SKCA-BR 4 186606572 186606572 single base substitution C T intron_variant SKCA-BR 4 186608117 186608117 single base substitution C T intron_variant SKCA-BR 4 186609245 186609245 single base substitution C T intron_variant SKCA-BR 4 186613868 186613868 single base substitution C T intron_variant SKCA-BR 4 186613868 186613868 single base substitution C T upstream_gene_variant SKCA-BR 4 186616195 186616195 single base substitution C T intron_variant SKCA-BR 4 186616195 186616195 single base substitution C T upstream_gene_variant SKCA-BR 4 186617344 186617344 single base substitution G A intron_variant SKCA-BR 4 186618312 186618312 single base substitution G A intron_variant SKCA-BR 4 186620355 186620355 single base substitution G A intron_variant SKCA-BR 4 186624332 186624332 single base substitution G A intron_variant SKCA-BR 4 186626624 186626624 single base substitution G A intron_variant SKCA-BR 4 186628114 186628114 single base substitution T A intron_variant SKCA-BR 4 186628289 186628289 single base substitution T A intron_variant SKCA-BR 4 186630236 186630236 single base substitution A G intron_variant SKCA-BR 4 186630458 186630458 insertion of <=200bp - CCT intron_variant SKCA-BR 4 186630458 186630458 insertion of <=200bp - CCTT intron_variant SKCA-BR 4 186633691 186633691 single base substitution T G intron_variant SKCA-BR 4 186635607 186635608 deletion of <=200bp CT - intron_variant SKCA-BR 4 186636398 186636398 single base substitution A G intron_variant SKCA-BR 4 186637066 186637066 single base substitution C A intron_variant SKCA-BR 4 186638280 186638280 single base substitution C T intron_variant SKCA-BR 4 186644303 186644303 single base substitution T A intron_variant SKCA-BR 4 186644321 186644321 single base substitution A C intron_variant SKCA-BR 4 186647286 186647286 single base substitution T G intron_variant SKCA-BR 4 186647572 186647572 single base substitution G T intron_variant SKCA-BR 4 186649993 186649993 single base substitution C T intron_variant SKCA-BR 4 186650064 186650064 single base substitution G A intron_variant SKCA-BR 4 186651439 186651439 single base substitution T G intron_variant SKCA-BR 4 186653871 186653871 single base substitution C T intron_variant SKCA-BR 4 186653937 186653937 single base substitution G A intron_variant SKCA-BR 4 186654078 186654078 single base substitution C T intron_variant SKCA-BR 4 186655305 186655305 single base substitution C G 5_prime_UTR_variant SKCA-BR 4 186655305 186655305 single base substitution C G intron_variant SKCA-BR 4 186656530 186656530 insertion of <=200bp - ATT intron_variant SKCA-BR 4 186656530 186656530 insertion of <=200bp - ATTT intron_variant SKCA-BR 4 186658156 186658156 single base substitution G A intron_variant SKCA-BR 4 186660687 186660687 single base substitution G A intron_variant SKCA-BR 4 186661854 186661854 single base substitution T C intron_variant SKCA-BR 4 186661854 186661854 single base substitution T C upstream_gene_variant SKCA-BR 4 186661917 186661917 single base substitution G A intron_variant SKCA-BR 4 186661917 186661917 single base substitution G A upstream_gene_variant SKCA-BR 4 186661967 186661967 single base substitution T C intron_variant SKCA-BR 4 186661967 186661967 single base substitution T C upstream_gene_variant SKCA-BR 4 186663397 186663397 single base substitution A C intron_variant SKCA-BR 4 186663397 186663397 single base substitution A C upstream_gene_variant SKCA-BR 4 186667109 186667109 single base substitution C T intron_variant SKCA-BR 4 186668251 186668251 single base substitution G A intron_variant SKCA-BR 4 186668660 186668660 single base substitution C T intron_variant SKCA-BR 4 186669367 186669367 single base substitution G A intron_variant SKCA-BR 4 186671287 186671287 single base substitution A C intron_variant SKCA-BR 4 186671479 186671479 single base substitution T C intron_variant SKCA-BR 4 186672404 186672404 single base substitution G A intron_variant SKCA-BR 4 186673807 186673807 single base substitution C T downstream_gene_variant SKCA-BR 4 186673807 186673807 single base substitution C T intron_variant SKCA-BR 4 186674294 186674294 single base substitution T G downstream_gene_variant SKCA-BR 4 186674294 186674294 single base substitution T G intron_variant SKCA-BR 4 186675210 186675210 single base substitution C T downstream_gene_variant SKCA-BR 4 186675210 186675210 single base substitution C T intron_variant SKCA-BR 4 186676066 186676066 single base substitution C T downstream_gene_variant SKCA-BR 4 186676066 186676066 single base substitution C T intron_variant SKCA-BR 4 186677455 186677455 single base substitution C T downstream_gene_variant SKCA-BR 4 186677455 186677455 single base substitution C T intron_variant SKCA-BR 4 186680246 186680246 single base substitution G A intron_variant SKCA-BR 4 186680427 186680427 single base substitution G A intron_variant SKCA-BR 4 186680799 186680799 single base substitution G A intron_variant SKCA-BR 4 186681212 186681212 single base substitution C T intron_variant SKCA-BR 4 186681927 186681927 single base substitution C T intron_variant SKCA-BR 4 186688671 186688674 deletion of <=200bp AAAG - downstream_gene_variant SKCA-BR 4 186688671 186688674 deletion of <=200bp AAAG - intron_variant SKCA-BR 4 186688672 186688674 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 4 186688672 186688674 deletion of <=200bp AAG - intron_variant SKCA-BR 4 186688673 186688674 deletion of <=200bp AG - downstream_gene_variant SKCA-BR 4 186688673 186688674 deletion of <=200bp AG - intron_variant SKCA-BR 4 186689865 186689865 insertion of <=200bp - AAC downstream_gene_variant SKCA-BR 4 186689865 186689865 insertion of <=200bp - AAC intron_variant SKCA-BR 4 186689866 186689866 single base substitution C A downstream_gene_variant SKCA-BR 4 186689866 186689866 single base substitution C A intron_variant SKCA-BR 4 186690264 186690264 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 4 186690264 186690264 insertion of <=200bp - AC intron_variant SKCA-BR 4 186690265 186690265 single base substitution A C downstream_gene_variant SKCA-BR 4 186690265 186690265 single base substitution A C intron_variant SKCA-BR 4 186691119 186691119 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 4 186691119 186691119 insertion of <=200bp - TA intron_variant SKCA-BR 4 186692218 186692218 single base substitution T C downstream_gene_variant SKCA-BR 4 186692218 186692218 single base substitution T C exon_variant SKCA-BR 4 186692218 186692218 single base substitution T C intron_variant SKCA-BR 4 186699881 186699881 single base substitution G A intron_variant SKCA-BR 4 186699881 186699881 single base substitution G A upstream_gene_variant SKCA-BR 4 186701330 186701330 single base substitution C T intron_variant SKCA-BR 4 186701330 186701330 single base substitution C T upstream_gene_variant SKCA-BR 4 186702408 186702408 single base substitution C T intron_variant SKCA-BR 4 186702826 186702826 single base substitution G A intron_variant SKCA-BR 4 186702830 186702830 single base substitution T C intron_variant SKCA-BR 4 186703877 186703877 single base substitution G A intron_variant SKCA-BR 4 186705239 186705239 single base substitution C T intron_variant SKCA-BR 4 186706980 186706980 single base substitution C T intron_variant SKCA-BR 4 186707096 186707096 single base substitution G A intron_variant SKCA-BR 4 186707151 186707151 single base substitution G A intron_variant SKCA-BR 4 186710781 186710781 single base substitution C T intron_variant SKCA-BR 4 186712645 186712645 single base substitution G A intron_variant SKCA-BR 4 186714158 186714158 single base substitution G A intron_variant SKCA-BR 4 186716039 186716039 single base substitution C A intron_variant SKCA-BR 4 186717694 186717694 single base substitution G A intron_variant SKCA-BR 4 186717743 186717743 single base substitution G A intron_variant SKCA-BR 4 186717824 186717824 single base substitution G A intron_variant SKCA-BR 4 186718580 186718580 single base substitution C T intron_variant SKCA-BR 4 186720430 186720430 single base substitution T A intron_variant SKCA-BR 4 186721682 186721682 single base substitution C T intron_variant SKCA-BR 4 186722818 186722820 deletion of <=200bp TCA - intron_variant SKCA-BR 4 186722949 186722949 single base substitution C T intron_variant SKCA-BR 4 186724652 186724652 single base substitution C T intron_variant SKCA-BR 4 186725944 186725944 single base substitution A T intron_variant SKCA-BR 4 186727532 186727532 single base substitution C T intron_variant SKCA-BR 4 186734210 186734210 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 4 186734210 186734210 single base substitution G A intron_variant SKCA-BR 4 186734210 186734210 single base substitution G A upstream_gene_variant SKCA-BR 4 186734859 186734859 single base substitution C T intron_variant SKCA-BR 4 186734859 186734859 single base substitution C T upstream_gene_variant SKCA-BR 4 186735707 186735711 deletion of <=200bp AAAAC - intron_variant SKCA-BR 4 186735707 186735711 deletion of <=200bp AAAAC - upstream_gene_variant SKCA-BR 4 186736964 186736964 single base substitution G A intron_variant SKCA-BR 4 186736964 186736964 single base substitution G A upstream_gene_variant SKCA-BR 4 186738791 186738791 single base substitution C T intron_variant SKCA-BR 4 186738791 186738791 single base substitution C T upstream_gene_variant SKCA-BR 4 186739979 186739979 insertion of <=200bp - CA intron_variant SKCA-BR 4 186743357 186743357 single base substitution A G intron_variant SKCA-BR 4 186745728 186745728 single base substitution G A intron_variant SKCA-BR 4 186747694 186747694 single base substitution G A intron_variant SKCA-BR 4 186748244 186748244 single base substitution C T intron_variant SKCA-BR 4 186748264 186748264 single base substitution G A intron_variant SKCA-BR 4 186748332 186748335 deletion of <=200bp CAGA - intron_variant SKCA-BR 4 186748335 186748335 single base substitution A C intron_variant SKCA-BR 4 186748346 186748346 single base substitution T C intron_variant SKCA-BR 4 186748388 186748388 single base substitution T C intron_variant SKCA-BR 4 186748400 186748400 single base substitution C T intron_variant SKCA-BR 4 186748484 186748484 single base substitution T C intron_variant SKCA-BR 4 186748520 186748520 single base substitution T C intron_variant SKCA-BR 4 186748523 186748523 single base substitution T C intron_variant SKCA-BR 4 186748544 186748544 single base substitution T C intron_variant SKCA-BR 4 186748553 186748553 single base substitution T C intron_variant SKCA-BR 4 186748559 186748559 single base substitution T C intron_variant SKCA-BR 4 186748562 186748562 single base substitution T C intron_variant SKCA-BR 4 186748565 186748565 single base substitution T C intron_variant SKCA-BR 4 186748598 186748598 single base substitution T C intron_variant SKCA-BR 4 186748646 186748646 single base substitution T C intron_variant SKCA-BR 4 186748697 186748697 single base substitution T C intron_variant SKCA-BR 4 186748742 186748742 single base substitution T C intron_variant SKCA-BR 4 186748781 186748781 single base substitution T C intron_variant SKCA-BR 4 186748823 186748823 single base substitution C T intron_variant SKCA-BR 4 186748841 186748841 single base substitution C T intron_variant SKCA-BR 4 186748856 186748856 single base substitution C T intron_variant SKCA-BR 4 186748895 186748895 single base substitution C T intron_variant SKCA-BR 4 186748925 186748925 single base substitution C T intron_variant SKCA-BR 4 186748942 186748942 single base substitution G A intron_variant SKCA-BR 4 186748958 186748958 single base substitution T C intron_variant SKCA-BR 4 186748975 186748975 single base substitution G A intron_variant SKCA-BR 4 186749148 186749151 deletion of <=200bp TCAC - intron_variant SKCA-BR 4 186749584 186749584 single base substitution G A intron_variant SKCA-BR 4 186750421 186750421 single base substitution T A intron_variant SKCA-BR 4 186751468 186751468 single base substitution G A intron_variant SKCA-BR 4 186752257 186752258 deletion of <=200bp AC - intron_variant SKCA-BR 4 186755080 186755080 single base substitution G A intron_variant SKCA-BR 4 186756779 186756779 single base substitution G T intron_variant SKCA-BR 4 186757431 186757431 single base substitution C T intron_variant SKCA-BR 4 186762897 186762897 single base substitution C A intron_variant SKCA-BR 4 186762976 186762976 single base substitution C T intron_variant SKCA-BR 4 186764003 186764003 single base substitution C T intron_variant SKCA-BR 4 186765072 186765072 single base substitution T C intron_variant SKCA-BR 4 186766628 186766628 single base substitution G A intron_variant SKCA-BR 4 186766764 186766764 single base substitution G A intron_variant SKCA-BR 4 186767875 186767875 single base substitution C T intron_variant SKCA-BR 4 186769240 186769240 single base substitution C T intron_variant SKCA-BR 4 186769765 186769765 single base substitution G A intron_variant SKCA-BR 4 186770628 186770628 insertion of <=200bp - AT intron_variant SKCA-BR 4 186772212 186772212 single base substitution G A intron_variant SKCA-BR 4 186772528 186772528 single base substitution C T intron_variant SKCA-BR 4 186772609 186772609 single base substitution G A intron_variant SKCA-BR 4 186775572 186775572 single base substitution C T intron_variant SKCA-BR 4 186775957 186775957 single base substitution G T intron_variant SKCA-BR 4 186776160 186776160 single base substitution C T intron_variant SKCA-BR 4 186777492 186777492 single base substitution C T intron_variant SKCA-BR 4 186778521 186778521 single base substitution C T intron_variant SKCA-BR 4 186779677 186779677 single base substitution A C intron_variant SKCA-BR 4 186779892 186779892 single base substitution A T intron_variant SKCA-BR 4 186783687 186783687 single base substitution C T intron_variant SKCA-BR 4 186783761 186783761 single base substitution A G intron_variant SKCA-BR 4 186786065 186786065 insertion of <=200bp - CAAAAA intron_variant SKCA-BR 4 186786143 186786143 single base substitution G C intron_variant SKCA-BR 4 186791156 186791156 single base substitution C T intron_variant SKCA-BR 4 186791647 186791647 single base substitution C T intron_variant SKCA-BR 4 186792264 186792264 single base substitution C T intron_variant SKCA-BR 4 186795995 186795995 insertion of <=200bp - GC intron_variant SKCA-BR 4 186796020 186796020 insertion of <=200bp - TTTTGC intron_variant SKCA-BR 4 186799028 186799028 single base substitution C A intron_variant SKCA-BR 4 186803659 186803659 single base substitution A T intron_variant SKCA-BR 4 186805420 186805420 single base substitution C T intron_variant SKCA-BR 4 186806725 186806725 single base substitution C T intron_variant SKCA-BR 4 186807979 186807979 insertion of <=200bp - AT intron_variant SKCA-BR 4 186809104 186809106 deletion of <=200bp GTA - intron_variant SKCA-BR 4 186809114 186809114 single base substitution A G intron_variant SKCA-BR 4 186809482 186809482 single base substitution G A intron_variant SKCA-BR 4 186810818 186810818 single base substitution C T intron_variant SKCA-BR 4 186811261 186811261 single base substitution G A intron_variant SKCA-BR 4 186811494 186811494 single base substitution A G intron_variant SKCA-BR 4 186812119 186812119 single base substitution C T intron_variant SKCA-BR 4 186812243 186812267 deletion of <=200bp GATTCTGCTTATTCTTTGTTTTTTA - intron_variant SKCA-BR 4 186815401 186815401 single base substitution A G intron_variant SKCA-BR 4 186816709 186816709 single base substitution A C intron_variant SKCA-BR 4 186819940 186819940 single base substitution C T intron_variant SKCA-BR 4 186821644 186821644 single base substitution T A intron_variant SKCA-BR 4 186822127 186822127 single base substitution T C intron_variant SKCA-BR 4 186822426 186822426 single base substitution C T intron_variant SKCA-BR 4 186822551 186822551 single base substitution T G intron_variant SKCA-BR 4 186824506 186824506 single base substitution T C intron_variant SKCA-BR 4 186825101 186825101 single base substitution C T intron_variant SKCA-BR 4 186827557 186827557 single base substitution G A intron_variant SKCA-BR 4 186827896 186827896 single base substitution G A intron_variant SKCA-BR 4 186828173 186828173 single base substitution C T intron_variant SKCA-BR 4 186829377 186829377 single base substitution C T intron_variant SKCA-BR 4 186831139 186831141 deletion of <=200bp GAA - intron_variant SKCA-BR 4 186832107 186832107 single base substitution G A intron_variant SKCA-BR 4 186833438 186833438 single base substitution T A intron_variant SKCA-BR 4 186836955 186836955 single base substitution G A intron_variant SKCA-BR 4 186837133 186837133 single base substitution G A intron_variant SKCA-BR 4 186846463 186846463 single base substitution G A intron_variant SKCA-BR 4 186846541 186846541 single base substitution G A intron_variant SKCA-BR 4 186847310 186847310 single base substitution G A intron_variant SKCA-BR 4 186847709 186847709 single base substitution G T intron_variant SKCA-BR 4 186848586 186848586 single base substitution C T intron_variant SKCA-BR 4 186849800 186849800 single base substitution T C intron_variant SKCA-BR 4 186849912 186849912 single base substitution G A intron_variant SKCA-BR 4 186849915 186849915 single base substitution T G intron_variant SKCA-BR 4 186849946 186849946 single base substitution C T intron_variant SKCA-BR 4 186850684 186850685 deletion of <=200bp GT - intron_variant SKCA-BR 4 186851818 186851818 single base substitution C T intron_variant SKCA-BR 4 186851995 186851995 single base substitution G A intron_variant SKCA-BR 4 186852978 186852978 single base substitution T C intron_variant SKCA-BR 4 186852979 186852979 single base substitution G A intron_variant SKCA-BR 4 186853298 186853298 single base substitution G A intron_variant SKCA-BR 4 186853396 186853396 single base substitution G A intron_variant SKCA-BR 4 186854783 186854783 single base substitution C A intron_variant SKCA-BR 4 186854783 186854783 single base substitution C A upstream_gene_variant SKCA-BR 4 186854895 186854895 single base substitution A C intron_variant SKCA-BR 4 186854895 186854895 single base substitution A C upstream_gene_variant SKCA-BR 4 186861291 186861291 single base substitution C T intron_variant SKCA-BR 4 186862846 186862846 single base substitution A C intron_variant SKCA-BR 4 186862855 186862855 single base substitution T C intron_variant SKCA-BR 4 186864509 186864509 single base substitution A T intron_variant SKCA-BR 4 186864539 186864539 single base substitution C T intron_variant SKCA-BR 4 186868175 186868175 single base substitution C T intron_variant SKCA-BR 4 186868304 186868304 single base substitution C T intron_variant SKCA-BR 4 186868934 186868934 single base substitution T A intron_variant SKCA-BR 4 186869538 186869538 single base substitution C T intron_variant SKCA-BR 4 186869864 186869864 single base substitution G T intron_variant SKCA-BR 4 186869974 186869974 single base substitution G A intron_variant SKCA-BR 4 186870901 186870901 single base substitution A G intron_variant SKCA-BR 4 186872028 186872028 single base substitution G A intron_variant SKCA-BR 4 186872365 186872365 single base substitution G A intron_variant SKCA-BR 4 186872720 186872720 single base substitution A G intron_variant SKCA-BR 4 186872923 186872923 single base substitution C T intron_variant SKCA-BR 4 186873303 186873303 single base substitution C T intron_variant SKCA-BR 4 186875072 186875072 single base substitution A G intron_variant SKCA-BR 4 186875425 186875425 single base substitution C T intron_variant SKCA-BR 4 186879148 186879148 single base substitution G A upstream_gene_variant SKCA-BR 4 186879303 186879303 single base substitution C G upstream_gene_variant SKCA-BR 4 186879363 186879363 single base substitution T C upstream_gene_variant SKCA-BR 4 186880531 186880531 single base substitution G A upstream_gene_variant SKCA-BR 4 186881925 186881925 single base substitution C T upstream_gene_variant SKCM-US 4 186536215 186536215 single base substitution G A downstream_gene_variant SKCM-US 4 186536215 186536215 single base substitution G A exon_variant SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P1013L 3038C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P262L 785C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P457L 1370C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P474L 1421C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P479L 1436C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P504L 1511C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P544L 1631C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P637L 1910C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P817L 2450C>T SKCM-US 4 186536215 186536215 single base substitution G A missense_variant P913L 2738C>T SKCM-US 4 186541233 186541233 single base substitution C T downstream_gene_variant SKCM-US 4 186541233 186541233 single base substitution C T exon_variant SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G208E 623G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G275E 824G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G403E 1208G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G420E 1259G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G425E 1274G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G450E 1349G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G490E 1469G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G583E 1748G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G763E 2288G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G859E 2576G>A SKCM-US 4 186541233 186541233 single base substitution C T missense_variant G959E 2876G>A SKCM-US 4 186541233 186541233 single base substitution C T upstream_gene_variant SKCM-US 4 186544089 186544089 single base substitution C T downstream_gene_variant SKCM-US 4 186544089 186544089 single base substitution C T intron_variant SKCM-US 4 186544089 186544089 single base substitution C T missense_variant D732N 2194G>A SKCM-US 4 186544089 186544089 single base substitution C T missense_variant D828N 2482G>A SKCM-US 4 186544089 186544089 single base substitution C T missense_variant D928N 2782G>A SKCM-US 4 186544450 186544450 single base substitution C T downstream_gene_variant SKCM-US 4 186544450 186544450 single base substitution C T intron_variant SKCM-US 4 186544450 186544450 single base substitution C T synonymous_variant R611R 1833G>A SKCM-US 4 186544450 186544450 single base substitution C T synonymous_variant R707R 2121G>A SKCM-US 4 186544450 186544450 single base substitution C T synonymous_variant R807R 2421G>A SKCM-US 4 186544533 186544533 single base substitution C T downstream_gene_variant SKCM-US 4 186544533 186544533 single base substitution C T intron_variant SKCM-US 4 186544533 186544533 single base substitution C T missense_variant E584K 1750G>A SKCM-US 4 186544533 186544533 single base substitution C T missense_variant E680K 2038G>A SKCM-US 4 186544533 186544533 single base substitution C T missense_variant E780K 2338G>A SKCM-US 4 186544548 186544548 single base substitution C T downstream_gene_variant SKCM-US 4 186544548 186544548 single base substitution C T intron_variant SKCM-US 4 186544548 186544548 single base substitution C T missense_variant E579K 1735G>A SKCM-US 4 186544548 186544548 single base substitution C T missense_variant E675K 2023G>A SKCM-US 4 186544548 186544548 single base substitution C T missense_variant E775K 2323G>A SKCM-US 4 186544571 186544571 single base substitution C T downstream_gene_variant SKCM-US 4 186544571 186544571 single base substitution C T intron_variant SKCM-US 4 186544571 186544571 single base substitution C T missense_variant R571Q 1712G>A SKCM-US 4 186544571 186544571 single base substitution C T missense_variant R667Q 2000G>A SKCM-US 4 186544571 186544571 single base substitution C T missense_variant R767Q 2300G>A SKCM-US 4 186544650 186544650 single base substitution G A downstream_gene_variant SKCM-US 4 186544650 186544650 single base substitution G A intron_variant SKCM-US 4 186544650 186544650 single base substitution G A missense_variant H545Y 1633C>T SKCM-US 4 186544650 186544650 single base substitution G A missense_variant H641Y 1921C>T SKCM-US 4 186544650 186544650 single base substitution G A missense_variant H741Y 2221C>T SKCM-US 4 186544688 186544688 single base substitution G A downstream_gene_variant SKCM-US 4 186544688 186544688 single base substitution G A intron_variant SKCM-US 4 186544688 186544688 single base substitution G A missense_variant S532F 1595C>T SKCM-US 4 186544688 186544688 single base substitution G A missense_variant S628F 1883C>T SKCM-US 4 186544688 186544688 single base substitution G A missense_variant S728F 2183C>T SKCM-US 4 186545032 186545032 single base substitution G A downstream_gene_variant SKCM-US 4 186545032 186545032 single base substitution G A intron_variant SKCM-US 4 186545032 186545032 single base substitution G A synonymous_variant F417F 1251C>T SKCM-US 4 186545032 186545032 single base substitution G A synonymous_variant F513F 1539C>T SKCM-US 4 186545032 186545032 single base substitution G A synonymous_variant F613F 1839C>T SKCM-US 4 186545077 186545077 single base substitution C T downstream_gene_variant SKCM-US 4 186545077 186545077 single base substitution C T intron_variant SKCM-US 4 186545077 186545077 single base substitution C T synonymous_variant T402T 1206G>A SKCM-US 4 186545077 186545077 single base substitution C T synonymous_variant T498T 1494G>A SKCM-US 4 186545077 186545077 single base substitution C T synonymous_variant T598T 1794G>A SKCM-US 4 186545156 186545156 single base substitution G A downstream_gene_variant SKCM-US 4 186545156 186545156 single base substitution G A intron_variant SKCM-US 4 186545156 186545156 single base substitution G A missense_variant S376F 1127C>T SKCM-US 4 186545156 186545156 single base substitution G A missense_variant S472F 1415C>T SKCM-US 4 186545156 186545156 single base substitution G A missense_variant S572F 1715C>T SKCM-US 4 186545280 186545280 single base substitution G A downstream_gene_variant SKCM-US 4 186545280 186545280 single base substitution G A intron_variant SKCM-US 4 186545280 186545280 single base substitution G A missense_variant R335C 1003C>T SKCM-US 4 186545280 186545280 single base substitution G A missense_variant R431C 1291C>T SKCM-US 4 186545280 186545280 single base substitution G A missense_variant R531C 1591C>T SKCM-US 4 186545288 186545288 single base substitution G A downstream_gene_variant SKCM-US 4 186545288 186545288 single base substitution G A intron_variant SKCM-US 4 186545288 186545288 single base substitution G A missense_variant P332L 995C>T SKCM-US 4 186545288 186545288 single base substitution G A missense_variant P428L 1283C>T SKCM-US 4 186545288 186545288 single base substitution G A missense_variant P528L 1583C>T SKCM-US 4 186545335 186545335 single base substitution C T downstream_gene_variant SKCM-US 4 186545335 186545335 single base substitution C T intron_variant SKCM-US 4 186545335 186545335 single base substitution C T synonymous_variant E316E 948G>A SKCM-US 4 186545335 186545335 single base substitution C T synonymous_variant E412E 1236G>A SKCM-US 4 186545335 186545335 single base substitution C T synonymous_variant E512E 1536G>A SKCM-US 4 186545351 186545351 single base substitution G A downstream_gene_variant SKCM-US 4 186545351 186545351 single base substitution G A intron_variant SKCM-US 4 186545351 186545351 single base substitution G A missense_variant S311F 932C>T SKCM-US 4 186545351 186545351 single base substitution G A missense_variant S407F 1220C>T SKCM-US 4 186545351 186545351 single base substitution G A missense_variant S507F 1520C>T SKCM-US 4 186545428 186545428 single base substitution G A downstream_gene_variant SKCM-US 4 186545428 186545428 single base substitution G A exon_variant SKCM-US 4 186545428 186545428 single base substitution G A intron_variant SKCM-US 4 186545428 186545428 single base substitution G A synonymous_variant S285S 855C>T SKCM-US 4 186545428 186545428 single base substitution G A synonymous_variant S381S 1143C>T SKCM-US 4 186545428 186545428 single base substitution G A synonymous_variant S481S 1443C>T SKCM-US 4 186545434 186545434 single base substitution G A downstream_gene_variant SKCM-US 4 186545434 186545434 single base substitution G A exon_variant SKCM-US 4 186545434 186545434 single base substitution G A intron_variant SKCM-US 4 186545434 186545434 single base substitution G A synonymous_variant I283I 849C>T SKCM-US 4 186545434 186545434 single base substitution G A synonymous_variant I379I 1137C>T SKCM-US 4 186545434 186545434 single base substitution G A synonymous_variant I479I 1437C>T SKCM-US 4 186545533 186545533 single base substitution C T downstream_gene_variant SKCM-US 4 186545533 186545533 single base substitution C T exon_variant SKCM-US 4 186545533 186545533 single base substitution C T intron_variant SKCM-US 4 186545533 186545533 single base substitution C T synonymous_variant R250R 750G>A SKCM-US 4 186545533 186545533 single base substitution C T synonymous_variant R346R 1038G>A SKCM-US 4 186545533 186545533 single base substitution C T synonymous_variant R446R 1338G>A SKCM-US 4 186545539 186545539 single base substitution G A downstream_gene_variant SKCM-US 4 186545539 186545539 single base substitution G A exon_variant SKCM-US 4 186545539 186545539 single base substitution G A intron_variant SKCM-US 4 186545539 186545539 single base substitution G A synonymous_variant V248V 744C>T SKCM-US 4 186545539 186545539 single base substitution G A synonymous_variant V344V 1032C>T SKCM-US 4 186545539 186545539 single base substitution G A synonymous_variant V444V 1332C>T SKCM-US 4 186545620 186545620 single base substitution G A downstream_gene_variant SKCM-US 4 186545620 186545620 single base substitution G A intron_variant SKCM-US 4 186545620 186545620 single base substitution G A synonymous_variant S221S 663C>T SKCM-US 4 186545620 186545620 single base substitution G A synonymous_variant S317S 951C>T SKCM-US 4 186545620 186545620 single base substitution G A synonymous_variant S417S 1251C>T SKCM-US 4 186545621 186545621 single base substitution G A downstream_gene_variant SKCM-US 4 186545621 186545621 single base substitution G A intron_variant SKCM-US 4 186545621 186545621 single base substitution G A missense_variant S221F 662C>T SKCM-US 4 186545621 186545621 single base substitution G A missense_variant S317F 950C>T SKCM-US 4 186545621 186545621 single base substitution G A missense_variant S417F 1250C>T SKCM-US 4 186548051 186548051 single base substitution C T downstream_gene_variant SKCM-US 4 186548051 186548051 single base substitution C T exon_variant SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G162E 485G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G190E 569G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G229E 686G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G231E 692G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G286E 857G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G357E 1070G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G374E 1121G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G379E 1136G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G386E 1157G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G404E 1211G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G444E 1331G>A SKCM-US 4 186548051 186548051 single base substitution C T missense_variant G537E 1610G>A SKCM-US 4 186551710 186551710 single base substitution G A exon_variant SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P119S 355C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P147S 439C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P186S 556C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P188S 562C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P243S 727C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P314S 940C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P331S 991C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P336S 1006C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P343S 1027C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P361S 1081C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P401S 1201C>T SKCM-US 4 186551710 186551710 single base substitution G A missense_variant P494S 1480C>T SKCM-US 4 186551710 186551710 single base substitution G A upstream_gene_variant SKCM-US 4 186570649 186570649 single base substitution G A downstream_gene_variant SKCM-US 4 186570649 186570649 single base substitution G A exon_variant SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R124* 370C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R181* 541C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R227* 679C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R250* 748C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R252* 754C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R267* 799C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R281* 841C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R360* 1078C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R38* 112C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R78* 232C>T SKCM-US 4 186570649 186570649 single base substitution G A stop_gained R85* 253C>T SKCM-US 4 186583354 186583354 single base substitution G A 5_prime_UTR_variant SKCM-US 4 186583354 186583354 single base substitution G A downstream_gene_variant SKCM-US 4 186583354 186583354 single base substitution G A exon_variant SKCM-US 4 186583354 186583354 single base substitution G A missense_variant P100S 298C>T SKCM-US 4 186583354 186583354 single base substitution G A missense_variant P179S 535C>T SKCM-US 4 186583354 186583354 single base substitution G A missense_variant P46S 136C>T SKCM-US 4 186583354 186583354 single base substitution G A missense_variant P63S 187C>T SKCM-US 4 186583354 186583354 single base substitution G A missense_variant P69S 205C>T SKCM-US 4 186583354 186583354 single base substitution G A missense_variant P86S 256C>T SKCM-US 4 186583354 186583354 single base substitution G A upstream_gene_variant STAD-US 4 186510856 186510856 deletion of <=200bp T - downstream_gene_variant STAD-US 4 186510856 186510856 deletion of <=200bp T - exon_variant STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K1073 STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K1173 STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K617 STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K634 STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K639 STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K704 STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K797 STAD-US 4 186510856 186510856 deletion of <=200bp T - frameshift_variant K977 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E1044 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E1144 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E588 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E605 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E610 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E635 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E675 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E768 STAD-US 4 186515044 186515044 deletion of <=200bp C - frameshift_variant E948 STAD-US 4 186515044 186515044 deletion of <=200bp C - upstream_gene_variant STAD-US 4 186533060 186533060 single base substitution T C downstream_gene_variant STAD-US 4 186533060 186533060 single base substitution T C exon_variant STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q1086Q 3258A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q530Q 1590A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q547Q 1641A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q552Q 1656A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q577Q 1731A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q617Q 1851A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q710Q 2130A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q890Q 2670A>G STAD-US 4 186533060 186533060 single base substitution T C synonymous_variant Q986Q 2958A>G STAD-US 4 186533064 186533064 single base substitution C A downstream_gene_variant STAD-US 4 186533064 186533064 single base substitution C A exon_variant STAD-US 4 186533064 186533064 single base substitution C A missense_variant R1085I 3254G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R529I 1586G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R546I 1637G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R551I 1652G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R576I 1727G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R616I 1847G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R709I 2126G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R889I 2666G>T STAD-US 4 186533064 186533064 single base substitution C A missense_variant R985I 2954G>T STAD-US 4 186536109 186536109 single base substitution A C downstream_gene_variant STAD-US 4 186536109 186536109 single base substitution A C exon_variant STAD-US 4 186536109 186536109 single base substitution A C missense_variant L1020R 3059T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L269R 806T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L464R 1391T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L481R 1442T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L486R 1457T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L511R 1532T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L551R 1652T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L644R 1931T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L824R 2471T>G STAD-US 4 186536109 186536109 single base substitution A C missense_variant L920R 2759T>G STAD-US 4 186544439 186544439 deletion of <=200bp T - downstream_gene_variant STAD-US 4 186544439 186544439 deletion of <=200bp T - frameshift_variant N615 STAD-US 4 186544439 186544439 deletion of <=200bp T - frameshift_variant N711 STAD-US 4 186544439 186544439 deletion of <=200bp T - frameshift_variant N811 STAD-US 4 186544439 186544439 deletion of <=200bp T - intron_variant STAD-US 4 186544479 186544479 single base substitution C T downstream_gene_variant STAD-US 4 186544479 186544479 single base substitution C T intron_variant STAD-US 4 186544479 186544479 single base substitution C T missense_variant A602T 1804G>A STAD-US 4 186544479 186544479 single base substitution C T missense_variant A698T 2092G>A STAD-US 4 186544479 186544479 single base substitution C T missense_variant A798T 2392G>A STAD-US 4 186544622 186544622 single base substitution T C downstream_gene_variant STAD-US 4 186544622 186544622 single base substitution T C intron_variant STAD-US 4 186544622 186544622 single base substitution T C missense_variant H554R 1661A>G STAD-US 4 186544622 186544622 single base substitution T C missense_variant H650R 1949A>G STAD-US 4 186544622 186544622 single base substitution T C missense_variant H750R 2249A>G STAD-US 4 186544768 186544768 single base substitution G A downstream_gene_variant STAD-US 4 186544768 186544768 single base substitution G A intron_variant STAD-US 4 186544768 186544768 single base substitution G A synonymous_variant D505D 1515C>T STAD-US 4 186544768 186544768 single base substitution G A synonymous_variant D601D 1803C>T STAD-US 4 186544768 186544768 single base substitution G A synonymous_variant D701D 2103C>T STAD-US 4 186544971 186544971 single base substitution C T downstream_gene_variant STAD-US 4 186544971 186544971 single base substitution C T intron_variant STAD-US 4 186544971 186544971 single base substitution C T missense_variant V438I 1312G>A STAD-US 4 186544971 186544971 single base substitution C T missense_variant V534I 1600G>A STAD-US 4 186544971 186544971 single base substitution C T missense_variant V634I 1900G>A STAD-US 4 186545449 186545449 single base substitution G A downstream_gene_variant STAD-US 4 186545449 186545449 single base substitution G A exon_variant STAD-US 4 186545449 186545449 single base substitution G A intron_variant STAD-US 4 186545449 186545449 single base substitution G A synonymous_variant T278T 834C>T STAD-US 4 186545449 186545449 single base substitution G A synonymous_variant T374T 1122C>T STAD-US 4 186545449 186545449 single base substitution G A synonymous_variant T474T 1422C>T STAD-US 4 186545480 186545480 deletion of <=200bp T - downstream_gene_variant STAD-US 4 186545480 186545480 deletion of <=200bp T - exon_variant STAD-US 4 186545480 186545480 deletion of <=200bp T - frameshift_variant N268 STAD-US 4 186545480 186545480 deletion of <=200bp T - frameshift_variant N364 STAD-US 4 186545480 186545480 deletion of <=200bp T - frameshift_variant N464 STAD-US 4 186545480 186545480 deletion of <=200bp T - intron_variant STAD-US 4 186545527 186545527 single base substitution T C downstream_gene_variant STAD-US 4 186545527 186545527 single base substitution T C exon_variant STAD-US 4 186545527 186545527 single base substitution T C intron_variant STAD-US 4 186545527 186545527 single base substitution T C synonymous_variant S252S 756A>G STAD-US 4 186545527 186545527 single base substitution T C synonymous_variant S348S 1044A>G STAD-US 4 186545527 186545527 single base substitution T C synonymous_variant S448S 1344A>G STAD-US 4 186578685 186578685 deletion of <=200bp G - downstream_gene_variant STAD-US 4 186578685 186578685 deletion of <=200bp G - exon_variant STAD-US 4 186578685 186578685 deletion of <=200bp G - frameshift_variant L100 STAD-US 4 186578685 186578685 deletion of <=200bp G - frameshift_variant L123 STAD-US 4 186578685 186578685 deletion of <=200bp G - frameshift_variant L140 STAD-US 4 186578685 186578685 deletion of <=200bp G - frameshift_variant L154 STAD-US 4 186578685 186578685 deletion of <=200bp G - frameshift_variant L233 STAD-US 4 186578685 186578685 deletion of <=200bp G - frameshift_variant L54 STAD-US 4 186578685 186578685 deletion of <=200bp G - upstream_gene_variant STAD-US 4 186578702 186578702 single base substitution G C downstream_gene_variant STAD-US 4 186578702 186578702 single base substitution G C exon_variant STAD-US 4 186578702 186578702 single base substitution G C missense_variant T117S 350C>G STAD-US 4 186578702 186578702 single base substitution G C missense_variant T134S 401C>G STAD-US 4 186578702 186578702 single base substitution G C missense_variant T148S 443C>G STAD-US 4 186578702 186578702 single base substitution G C missense_variant T227S 680C>G STAD-US 4 186578702 186578702 single base substitution G C missense_variant T48S 143C>G STAD-US 4 186578702 186578702 single base substitution G C missense_variant T94S 281C>G STAD-US 4 186578702 186578702 single base substitution G C upstream_gene_variant STAD-US 4 186583258 186583258 single base substitution C T downstream_gene_variant STAD-US 4 186583258 186583258 single base substitution C T missense_variant D101N 301G>A STAD-US 4 186583258 186583258 single base substitution C T missense_variant D118N 352G>A STAD-US 4 186583258 186583258 single base substitution C T missense_variant D132N 394G>A STAD-US 4 186583258 186583258 single base substitution C T missense_variant D211N 631G>A STAD-US 4 186583258 186583258 single base substitution C T missense_variant D32N 94G>A STAD-US 4 186583258 186583258 single base substitution C T missense_variant D78N 232G>A STAD-US 4 186583258 186583258 single base substitution C T missense_variant D95N 283G>A STAD-US 4 186583258 186583258 single base substitution C T splice_region_variant STAD-US 4 186583258 186583258 single base substitution C T upstream_gene_variant STAD-US 4 186583287 186583287 single base substitution C T downstream_gene_variant STAD-US 4 186583287 186583287 single base substitution C T exon_variant STAD-US 4 186583287 186583287 single base substitution C T missense_variant S108N 323G>A STAD-US 4 186583287 186583287 single base substitution C T missense_variant S122N 365G>A STAD-US 4 186583287 186583287 single base substitution C T missense_variant S201N 602G>A STAD-US 4 186583287 186583287 single base substitution C T missense_variant S22N 65G>A STAD-US 4 186583287 186583287 single base substitution C T missense_variant S68N 203G>A STAD-US 4 186583287 186583287 single base substitution C T missense_variant S85N 254G>A STAD-US 4 186583287 186583287 single base substitution C T missense_variant S91N 272G>A STAD-US 4 186583287 186583287 single base substitution C T upstream_gene_variant THCA-SA 4 186541301 186541301 single base substitution A G downstream_gene_variant THCA-SA 4 186541301 186541301 single base substitution A G exon_variant THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R185R 555T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R252R 756T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R380R 1140T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R397R 1191T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R402R 1206T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R427R 1281T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R467R 1401T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R560R 1680T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R740R 2220T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R836R 2508T>C THCA-SA 4 186541301 186541301 single base substitution A G synonymous_variant R936R 2808T>C THCA-SA 4 186541301 186541301 single base substitution A G upstream_gene_variant THCA-US 4 186545308 186545308 single base substitution C G downstream_gene_variant THCA-US 4 186545308 186545308 single base substitution C G intron_variant THCA-US 4 186545308 186545308 single base substitution C G synonymous_variant A325A 975G>C THCA-US 4 186545308 186545308 single base substitution C G synonymous_variant A421A 1263G>C THCA-US 4 186545308 186545308 single base substitution C G synonymous_variant A521A 1563G>C THCA-US 4 186578641 186578641 single base substitution T C downstream_gene_variant THCA-US 4 186578641 186578641 single base substitution T C exon_variant THCA-US 4 186578641 186578641 single base substitution T C synonymous_variant K114K 342A>G THCA-US 4 186578641 186578641 single base substitution T C synonymous_variant K11K 33A>G THCA-US 4 186578641 186578641 single base substitution T C synonymous_variant K137K 411A>G THCA-US 4 186578641 186578641 single base substitution T C synonymous_variant K154K 462A>G THCA-US 4 186578641 186578641 single base substitution T C synonymous_variant K168K 504A>G THCA-US 4 186578641 186578641 single base substitution T C synonymous_variant K247K 741A>G THCA-US 4 186578641 186578641 single base substitution T C synonymous_variant K68K 204A>G THCA-US 4 186578641 186578641 single base substitution T C upstream_gene_variant UCEC-US 4 186510865 186510865 single base substitution A C downstream_gene_variant UCEC-US 4 186510865 186510865 single base substitution A C exon_variant UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V1070G 3209T>G UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V1170G 3509T>G UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V614G 1841T>G UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V631G 1892T>G UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V636G 1907T>G UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V701G 2102T>G UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V794G 2381T>G UCEC-US 4 186510865 186510865 single base substitution A C missense_variant V974G 2921T>G UCEC-US 4 186532987 186532987 single base substitution G A downstream_gene_variant UCEC-US 4 186532987 186532987 single base substitution G A exon_variant UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P1011S 3031C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P1111S 3331C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P555S 1663C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P572S 1714C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P577S 1729C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P602S 1804C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P642S 1924C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P735S 2203C>T UCEC-US 4 186532987 186532987 single base substitution G A missense_variant P915S 2743C>T UCEC-US 4 186533063 186533063 single base substitution T C downstream_gene_variant UCEC-US 4 186533063 186533063 single base substitution T C exon_variant UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R1085R 3255A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R529R 1587A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R546R 1638A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R551R 1653A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R576R 1728A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R616R 1848A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R709R 2127A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R889R 2667A>G UCEC-US 4 186533063 186533063 single base substitution T C synonymous_variant R985R 2955A>G UCEC-US 4 186536018 186536018 single base substitution G A downstream_gene_variant UCEC-US 4 186536018 186536018 single base substitution G A exon_variant UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N1050N 3150C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N494N 1482C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N511N 1533C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N516N 1548C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N541N 1623C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N581N 1743C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N674N 2022C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N854N 2562C>T UCEC-US 4 186536018 186536018 single base substitution G A synonymous_variant N950N 2850C>T UCEC-US 4 186536285 186536285 single base substitution C T downstream_gene_variant UCEC-US 4 186536285 186536285 single base substitution C T exon_variant UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V239I 715G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V434I 1300G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V451I 1351G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V456I 1366G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V481I 1441G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V521I 1561G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V614I 1840G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V794I 2380G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V890I 2668G>A UCEC-US 4 186536285 186536285 single base substitution C T missense_variant V990I 2968G>A UCEC-US 4 186544264 186544264 single base substitution G A downstream_gene_variant UCEC-US 4 186544264 186544264 single base substitution G A intron_variant UCEC-US 4 186544264 186544264 single base substitution G A synonymous_variant P673P 2019C>T UCEC-US 4 186544264 186544264 single base substitution G A synonymous_variant P769P 2307C>T UCEC-US 4 186544264 186544264 single base substitution G A synonymous_variant P869P 2607C>T UCEC-US 4 186544278 186544278 single base substitution G A downstream_gene_variant UCEC-US 4 186544278 186544278 single base substitution G A intron_variant UCEC-US 4 186544278 186544278 single base substitution G A synonymous_variant L669L 2005C>T UCEC-US 4 186544278 186544278 single base substitution G A synonymous_variant L765L 2293C>T UCEC-US 4 186544278 186544278 single base substitution G A synonymous_variant L865L 2593C>T UCEC-US 4 186544361 186544361 single base substitution T C downstream_gene_variant UCEC-US 4 186544361 186544361 single base substitution T C intron_variant UCEC-US 4 186544361 186544361 single base substitution T C missense_variant D641G 1922A>G UCEC-US 4 186544361 186544361 single base substitution T C missense_variant D737G 2210A>G UCEC-US 4 186544361 186544361 single base substitution T C missense_variant D837G 2510A>G UCEC-US 4 186544524 186544524 single base substitution C T downstream_gene_variant UCEC-US 4 186544524 186544524 single base substitution C T intron_variant UCEC-US 4 186544524 186544524 single base substitution C T missense_variant E587K 1759G>A UCEC-US 4 186544524 186544524 single base substitution C T missense_variant E683K 2047G>A UCEC-US 4 186544524 186544524 single base substitution C T missense_variant E783K 2347G>A UCEC-US 4 186544548 186544548 single base substitution C T downstream_gene_variant UCEC-US 4 186544548 186544548 single base substitution C T intron_variant UCEC-US 4 186544548 186544548 single base substitution C T missense_variant E579K 1735G>A UCEC-US 4 186544548 186544548 single base substitution C T missense_variant E675K 2023G>A UCEC-US 4 186544548 186544548 single base substitution C T missense_variant E775K 2323G>A UCEC-US 4 186544809 186544809 single base substitution G A downstream_gene_variant UCEC-US 4 186544809 186544809 single base substitution G A intron_variant UCEC-US 4 186544809 186544809 single base substitution G A stop_gained Q492* 1474C>T UCEC-US 4 186544809 186544809 single base substitution G A stop_gained Q588* 1762C>T UCEC-US 4 186544809 186544809 single base substitution G A stop_gained Q688* 2062C>T UCEC-US 4 186544810 186544810 single base substitution C T downstream_gene_variant UCEC-US 4 186544810 186544810 single base substitution C T intron_variant UCEC-US 4 186544810 186544810 single base substitution C T synonymous_variant E491E 1473G>A UCEC-US 4 186544810 186544810 single base substitution C T synonymous_variant E587E 1761G>A UCEC-US 4 186544810 186544810 single base substitution C T synonymous_variant E687E 2061G>A UCEC-US 4 186545010 186545010 single base substitution T C downstream_gene_variant UCEC-US 4 186545010 186545010 single base substitution T C intron_variant UCEC-US 4 186545010 186545010 single base substitution T C missense_variant K425E 1273A>G UCEC-US 4 186545010 186545010 single base substitution T C missense_variant K521E 1561A>G UCEC-US 4 186545010 186545010 single base substitution T C missense_variant K621E 1861A>G UCEC-US 4 186545037 186545037 single base substitution C T downstream_gene_variant UCEC-US 4 186545037 186545037 single base substitution C T intron_variant UCEC-US 4 186545037 186545037 single base substitution C T missense_variant E416K 1246G>A UCEC-US 4 186545037 186545037 single base substitution C T missense_variant E512K 1534G>A UCEC-US 4 186545037 186545037 single base substitution C T missense_variant E612K 1834G>A UCEC-US 4 186545235 186545235 single base substitution C T downstream_gene_variant UCEC-US 4 186545235 186545235 single base substitution C T intron_variant UCEC-US 4 186545235 186545235 single base substitution C T missense_variant A350T 1048G>A UCEC-US 4 186545235 186545235 single base substitution C T missense_variant A446T 1336G>A UCEC-US 4 186545235 186545235 single base substitution C T missense_variant A546T 1636G>A UCEC-US 4 186545458 186545458 single base substitution C T downstream_gene_variant UCEC-US 4 186545458 186545458 single base substitution C T exon_variant UCEC-US 4 186545458 186545458 single base substitution C T intron_variant UCEC-US 4 186545458 186545458 single base substitution C T synonymous_variant T275T 825G>A UCEC-US 4 186545458 186545458 single base substitution C T synonymous_variant T371T 1113G>A UCEC-US 4 186545458 186545458 single base substitution C T synonymous_variant T471T 1413G>A UCEC-US 4 186545502 186545502 single base substitution C T downstream_gene_variant UCEC-US 4 186545502 186545502 single base substitution C T exon_variant UCEC-US 4 186545502 186545502 single base substitution C T intron_variant UCEC-US 4 186545502 186545502 single base substitution C T missense_variant G261S 781G>A UCEC-US 4 186545502 186545502 single base substitution C T missense_variant G357S 1069G>A UCEC-US 4 186545502 186545502 single base substitution C T missense_variant G457S 1369G>A UCEC-US 4 186559260 186559260 single base substitution G T downstream_gene_variant UCEC-US 4 186559260 186559260 single base substitution G T intron_variant UCEC-US 4 186559260 186559260 single base substitution G T missense_variant F293L 879C>A UCEC-US 4 186559306 186559306 single base substitution A G downstream_gene_variant UCEC-US 4 186559306 186559306 single base substitution A G intron_variant UCEC-US 4 186559306 186559306 single base substitution A G missense_variant I278T 833T>C UCEC-US 4 186559309 186559309 single base substitution C T downstream_gene_variant UCEC-US 4 186559309 186559309 single base substitution C T intron_variant UCEC-US 4 186559309 186559309 single base substitution C T missense_variant R277H 830G>A UCEC-US 4 186559310 186559310 single base substitution G A downstream_gene_variant UCEC-US 4 186559310 186559310 single base substitution G A intron_variant UCEC-US 4 186559310 186559310 single base substitution G A missense_variant R277C 829C>T UCEC-US 4 186560088 186560088 single base substitution C T exon_variant UCEC-US 4 186560088 186560088 single base substitution C T intron_variant UCEC-US 4 186560088 186560088 single base substitution C T synonymous_variant P159P 477G>A UCEC-US 4 186560088 186560088 single base substitution C T synonymous_variant P308P 924G>A UCEC-US 4 186560088 186560088 single base substitution C T synonymous_variant P348P 1044G>A UCEC-US 4 186560088 186560088 single base substitution C T synonymous_variant P441P 1323G>A UCEC-US 4 186560170 186560170 single base substitution G A exon_variant UCEC-US 4 186560170 186560170 single base substitution G A intron_variant UCEC-US 4 186560170 186560170 single base substitution G A missense_variant P132L 395C>T UCEC-US 4 186560170 186560170 single base substitution G A missense_variant P281L 842C>T UCEC-US 4 186560170 186560170 single base substitution G A missense_variant P321L 962C>T UCEC-US 4 186560170 186560170 single base substitution G A missense_variant P414L 1241C>T UCEC-US 4 186567882 186567882 single base substitution C T exon_variant UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E105E 315G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E112E 336G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E151E 453G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E208E 624G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E254E 762G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E277E 831G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E279E 837G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E294E 882G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E308E 924G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E387E 1161G>A UCEC-US 4 186567882 186567882 single base substitution C T synonymous_variant E65E 195G>A UCEC-US 4 186567890 186567890 single base substitution G A exon_variant UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R103W 307C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R110W 328C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R149W 445C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R206W 616C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R252W 754C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R275W 823C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R277W 829C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R292W 874C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R306W 916C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R385W 1153C>T UCEC-US 4 186567890 186567890 single base substitution G A missense_variant R63W 187C>T UCEC-US 4 186570637 186570637 single base substitution G A downstream_gene_variant UCEC-US 4 186570637 186570637 single base substitution G A exon_variant UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R128W 382C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R185W 553C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R231W 691C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R254W 760C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R256W 766C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R271W 811C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R285W 853C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R364W 1090C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R42W 124C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R82W 244C>T UCEC-US 4 186570637 186570637 single base substitution G A missense_variant R89W 265C>T UCEC-US 4 186570727 186570727 single base substitution C T downstream_gene_variant UCEC-US 4 186570727 186570727 single base substitution C T exon_variant UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D12N 34G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D155N 463G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D201N 601G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D224N 670G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D226N 676G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D241N 721G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D255N 763G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D334N 1000G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D52N 154G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D59N 175G>A UCEC-US 4 186570727 186570727 single base substitution C T missense_variant D98N 292G>A UCEC-US 4 186578641 186578641 single base substitution T C downstream_gene_variant UCEC-US 4 186578641 186578641 single base substitution T C exon_variant UCEC-US 4 186578641 186578641 single base substitution T C synonymous_variant K114K 342A>G UCEC-US 4 186578641 186578641 single base substitution T C synonymous_variant K11K 33A>G UCEC-US 4 186578641 186578641 single base substitution T C synonymous_variant K137K 411A>G UCEC-US 4 186578641 186578641 single base substitution T C synonymous_variant K154K 462A>G UCEC-US 4 186578641 186578641 single base substitution T C synonymous_variant K168K 504A>G UCEC-US 4 186578641 186578641 single base substitution T C synonymous_variant K247K 741A>G UCEC-US 4 186578641 186578641 single base substitution T C synonymous_variant K68K 204A>G UCEC-US 4 186578641 186578641 single base substitution T C upstream_gene_variant UCEC-US 4 186583271 186583271 single base substitution G A downstream_gene_variant UCEC-US 4 186583271 186583271 single base substitution G A exon_variant UCEC-US 4 186583271 186583271 single base substitution G A synonymous_variant H113H 339C>T UCEC-US 4 186583271 186583271 single base substitution G A synonymous_variant H127H 381C>T UCEC-US 4 186583271 186583271 single base substitution G A synonymous_variant H206H 618C>T UCEC-US 4 186583271 186583271 single base substitution G A synonymous_variant H27H 81C>T UCEC-US 4 186583271 186583271 single base substitution G A synonymous_variant H73H 219C>T UCEC-US 4 186583271 186583271 single base substitution G A synonymous_variant H90H 270C>T UCEC-US 4 186583271 186583271 single base substitution G A synonymous_variant H96H 288C>T UCEC-US 4 186583271 186583271 single base substitution G A upstream_gene_variant UCEC-US 4 186598371 186598371 single base substitution A G downstream_gene_variant UCEC-US 4 186598371 186598371 single base substitution A G intron_variant UCEC-US 4 186598371 186598371 single base substitution A G missense_variant V91A 272T>C UCEC-US 4 186599611 186599611 single base substitution C T 5_prime_UTR_variant UCEC-US 4 186599611 186599611 single base substitution C T exon_variant UCEC-US 4 186599611 186599611 single base substitution C T missense_variant R20Q 59G>A UCEC-US 4 186599611 186599611 single base substitution C T missense_variant R37Q 110G>A UCEC-US 4 186599611 186599611 single base substitution C T missense_variant R43Q 128G>A UCEC-US 4 186599611 186599611 single base substitution C T missense_variant R51Q 152G>A UCEC-US 4 186599611 186599611 single base substitution C T missense_variant R60Q 179G>A UCEC-US 4 186599611 186599611 single base substitution C T missense_variant R74Q 221G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-43-5668-01 COSM732914 c.3165G>A p.R1055R Substitution - coding silent 4:185589755-185589755 - T3527 COSM4729030 c.1472G>A p.R491H Substitution - Missense 4:185623945-185623945 - ESCC-D4 COSM5046225 c.335-1G>A p.? Unknown 4:185651829-185651829 - I2L-P7-Tumor-Organoid COSM5356164 c.1508G>A p.R503Q Substitution - Missense 4:185623909-185623909 - HCC28 COSM1618658 c.3224A>G p.D1075G Substitution - Missense 4:185589696-185589696 - 61 COSM5737145 c.1279G>A p.V427I Substitution - Missense 4:185624138-185624138 - CSCC-56-T COSM4483112 c.2374C>T p.P792S Substitution - Missense 4:185623043-185623043 - TCGA-AX-A0J1-01 COSM1053862 c.624G>A p.E208E Substitution - coding silent 4:185646728-185646728 - TCGA-A6-6650-01 COSM3696574 c.53C>T p.S18L Substitution - Missense 4:185662145-185662145 - PTC-28C COSM3760525 c.1692C>G p.P564P Substitution - coding silent 4:185623725-185623725 - TCGA-BR-6452-01 COSM4123758 c.2958A>G p.Q986Q Substitution - coding silent 4:185611906-185611906 - TCGA-BS-A0UV-01 COSM1053864 c.553C>T p.R185W Substitution - Missense 4:185649483-185649483 - TCGA-AP-A0LM-01 COSM1053850 c.2210A>G p.D737G Substitution - Missense 4:185623207-185623207 - T2643 COSM4729028 c.1683C>T p.S561S Substitution - coding silent 4:185623734-185623734 - CSCC-41-T COSM4501105 c.43C>T p.L15F Substitution - Missense 4:185662155-185662155 - YUOMEGA COSM5400952 c.1246G>A p.E416K Substitution - Missense 4:185624171-185624171 - MPCC_0032_Pa_C COSM3781137 c.3279C>A p.P1093P Substitution - coding silent 4:185587651-185587651 - PT08_1 COSM5893011 c.2113C>T p.P705S Substitution - Missense 4:185623304-185623304 - S0078 COSM5883992 c.3131A>T p.E1044V Substitution - Missense 4:185593889-185593889 - ESCC-017T COSM3940830 c.622G>C p.E208Q Substitution - Missense 4:185646730-185646730 - 585208 COSM326539 c.1867G>T p.D623Y Substitution - Missense 4:185623550-185623550 - SE20PT COSM1580087 c.266C>T p.T89M Substitution - Missense 4:185657425-185657425 - RK042_C01 COSM1633609 c.3084+1G>A p.? Unknown 4:185611779-185611779 - DLD1 COSM209090 c.2276G>A p.R759H Substitution - Missense 4:185623141-185623141 - TCGA-BR-6452-01 COSM4123773 c.2092G>A p.A698T Substitution - Missense 4:185623325-185623325 - 3101B7_041_T COSM5040655 c.1915A>T p.S639C Substitution - Missense 4:185623502-185623502 - BD124T COSM5491862 c.1074G>A p.W358* Substitution - Nonsense 4:185624343-185624343 - 234 COSM3730919 c.1205C>T p.S402L Substitution - Missense 4:185624212-185624212 - CSCC-38-T COSM4466227 c.1121C>T p.T374I Substitution - Missense 4:185624296-185624296 - HCT8 COSM3130812 c.1268G>A p.G423E Substitution - Missense 4:185624149-185624149 - 345973 COSM3130832 c.981C>A p.N327K Substitution - Missense 4:185624436-185624436 - 587222 COSM1227120 c.970C>T p.L324F Substitution - Missense 4:185624447-185624447 - TCGA-IR-A3LL-01 COSM4849984 c.103G>A p.D35N Substitution - Missense 4:185657588-185657588 - HCT-15 COSM209090 c.2276G>A p.R759H Substitution - Missense 4:185623141-185623141 - TCGA-HP-A5N0-01 COSM4942280 c.2272C>A p.H758N Substitution - Missense 4:185623145-185623145 - SB_07 COSM5753153 c.2344_2345CC>AT p.P782I Substitution - Missense 4:185623072-185623073 - TCGA-F1-6874-01 COSM3130950 c.143C>G p.T48S Substitution - Missense 4:185657548-185657548 - 11M COSM5577077 c.1027G>A p.D343N Substitution - Missense 4:185624390-185624390 - TCGA-60-2698-01 COSM732912 c.2909G>A p.R970K Substitution - Missense 4:185611955-185611955 - Pat_41_B COSM3602510 c.950C>T p.S317F Substitution - Missense 4:185624467-185624467 - CHC304T COSM4788431 c.1586A>G p.D529G Substitution - Missense 4:185623831-185623831 - 227 COSM4425996 c.3085-3C>T p.? Unknown 4:185593938-185593938 - RK254_C01 COSM4945705 c.2603C>A p.A868E Substitution - Missense 4:185618621-185618621 - TCGA-A6-2675-01 COSM3696572 c.1810G>T p.V604L Substitution - Missense 4:185623607-185623607 - 587228 COSM1227119 c.1187C>T p.P396L Substitution - Missense 4:185624230-185624230 - GC_296T1-GC_296N COSM4772118 c.144C>A p.T48T Substitution - coding silent 4:185657547-185657547 - MDS-15 COSM211032 c.3130_3131insC p.E1044fs*8 Insertion - Frameshift 4:185593889-185593890 - TCGA-D1-A16F-01 COSM1053856 c.1561A>G p.K521E Substitution - Missense 4:185623856-185623856 - CSCC-27-T COSM4534611 c.1804G>A p.G602R Substitution - Missense 4:185623613-185623613 - TCGA-AP-A051-01 COSM1053849 c.2293C>T p.L765L Substitution - coding silent 4:185623124-185623124 - TCGA-D7-A4YY-01 COSM4123785 c.65G>A p.S22N Substitution - Missense 4:185662133-185662133 - TCGA-AP-A0LM-01 COSM1053858 c.1336G>A p.A446T Substitution - Missense 4:185624081-185624081 - TCGA-AP-A0LM-01 COSM1053870 c.204A>G p.K68K Substitution - coding silent 4:185657487-185657487 - TCGA-D8-A1Y0-01 COSM1485873 c.1439A>G p.Y480C Substitution - Missense 4:185623978-185623978 - BN06 COSM1618670 c.1629A>G p.L543L Substitution - coding silent 4:185623788-185623788 - Pat_60_A COSM4171316 c.1156G>A p.D386N Substitution - Missense 4:185624261-185624261 - ESCC-D4 COSM5046212 c.426G>C p.K142N Substitution - Missense 4:185649610-185649610 - LUAD-NYU282 COSM372473 c.2851G>T p.A951S Substitution - Missense 4:185614863-185614863 - PT16_1 COSM5898247 c.2570G>A p.R857K Substitution - Missense 4:185620085-185620085 - HCT8 COSM209090 c.2276G>A p.R759H Substitution - Missense 4:185623141-185623141 - TCGA-D5-6927-01 COSM211511 c.3130_3131insG p.E1044fs*8 Insertion - Frameshift 4:185593889-185593890 - TCGA-ER-A19F-06 COSM3602508 c.951C>T p.S317S Substitution - coding silent 4:185624466-185624466 - T368 COSM3130892 c.602A>G p.D201G Substitution - Missense 4:185646750-185646750 - T3091 COSM3130668 c.3130delG p.E1044fs*>57 Deletion - Frameshift 4:185593890-185593890 - TCGA-EB-A431-01 COSM3602488 c.2482G>A p.D828N Substitution - Missense 4:185622935-185622935 - CHEWS008 COSM4584969 c.357T>C p.N119N Substitution - coding silent 4:185651806-185651806 - CSCC-49-T COSM4475526 c.1696C>T p.R566W Substitution - Missense 4:185623721-185623721 - TCGA-A3-3374-01 COSM1495701 c.2738C>A p.P913Q Substitution - Missense 4:185615061-185615061 - Sample_1 COSM4997637 c.1123G>A p.V375I Substitution - Missense 4:185624294-185624294 - MDS-15 COSM211511 c.3130_3131insG p.E1044fs*8 Insertion - Frameshift 4:185593889-185593890 - 37M COSM5584106 c.2361C>T p.L787L Substitution - coding silent 4:185623056-185623056 - RK189_C01 COSM1633614 c.1530C>G p.I510M Substitution - Missense 4:185623887-185623887 - TCGA-13-0890-01 COSM76546 c.2816A>G p.E939G Substitution - Missense 4:185614898-185614898 - 585258 COSM323518 c.61T>G p.S21A Substitution - Missense 4:185662137-185662137 - TCGA-EE-A29L-06 COSM3130790 c.1539C>T p.F513F Substitution - coding silent 4:185623878-185623878 - CHEWS027 COSM4584962 c.3143C>T p.A1048V Substitution - Missense 4:185589777-185589777 - CSCC-27-T COSM4523414 c.676G>A p.E226K Substitution - Missense 4:185646676-185646676 - TCGA-A4-8515-01 COSM3993593 c.1185C>A p.F395L Substitution - Missense 4:185624232-185624232 - CSCC-40-T COSM4564826 c.1186_1187CC>TT p.P396L Substitution - Missense 4:185624230-185624231 - L13 COSM5369146 c.679A>T p.R227* Substitution - Nonsense 4:185646673-185646673 - HCT15 COSM209090 c.2276G>A p.R759H Substitution - Missense 4:185623141-185623141 - cSCCP2 COSM137418 c.1168G>A p.D390N Substitution - Missense 4:185624249-185624249 - TCGA-AP-A056-01 COSM1053857 c.1534G>A p.E512K Substitution - Missense 4:185623883-185623883 - pfg143T COSM3130788 c.1692delC p.A565fs*49 Deletion - Frameshift 4:185623725-185623725 - TCGA-D1-A17U-01 COSM1053853 c.1935C>T p.H645H Substitution - coding silent 4:185623482-185623482 - 9227_T COSM5042872 c.2432G>A p.S811N Substitution - Missense 4:185622985-185622985 - DLD1 COSM3130812 c.1268G>A p.G423E Substitution - Missense 4:185624149-185624149 - T3498 COSM167267 c.616C>T p.R206W Substitution - Missense 4:185646736-185646736 - TCGA-B5-A11J-01 COSM1053855 c.1761G>A p.E587E Substitution - coding silent 4:185623656-185623656 - RK050_C01 COSM1633604 c.3273T>G p.T1091T Substitution - coding silent 4:185587657-185587657 - HCC2998 COSM3130766 c.2171A>C p.K724T Substitution - Missense 4:185623246-185623246 - TCGA-29-1699-01 COSM304487 c.2491G>A p.G831S Substitution - Missense 4:185622926-185622926 - J88_T COSM3946228 c.1510G>T p.D504Y Substitution - Missense 4:185623907-185623907 - I2L-P19Ta-Tumor-Biopsy COSM5355882 c.1556A>C p.K519T Substitution - Missense 4:185623861-185623861 - TCGA-AP-A0LM-01 COSM1053859 c.1113G>A p.T371T Substitution - coding silent 4:185624304-185624304 - TCGA-BF-A1PV-01 COSM1053852 c.2023G>A p.E675K Substitution - Missense 4:185623394-185623394 - LUAD-S01315 COSM345611 c.2863G>T p.V955L Substitution - Missense 4:185614851-185614851 - ESCC_3 COSM5622635 c.1424C>A p.S475Y Substitution - Missense 4:185623993-185623993 - TCGA-60-2707-01 COSM732906 c.1788C>T p.S596S Substitution - coding silent 4:185623629-185623629 - SW48 COSM3130668 c.3130delG p.E1044fs*>57 Deletion - Frameshift 4:185593890-185593890 - TCGA-A2-A0SV-01 COSM447680 c.2413T>A p.C805S Substitution - Missense 4:185623004-185623004 - TCGA-D3-A51G-06 COSM3602494 c.1921C>T p.H641Y Substitution - Missense 4:185623496-185623496 - 255 COSM1428926 c.841C>T p.R281* Substitution - Nonsense 4:185626913-185626913 - CSCC-47-T COSM4456640 c.480C>T p.A160A Substitution - coding silent 4:185649556-185649556 - PT55 COSM5941918 c.1138A>G p.K380E Substitution - Missense 4:185624279-185624279 - HCC064T COSM5809868 c.1696C>G p.R566G Substitution - Missense 4:185623721-185623721 - sysucc-1370T COSM5471864 c.2376C>T p.P792P Substitution - coding silent 4:185623041-185623041 - HCT8 COSM1053853 c.1935C>T p.H645H Substitution - coding silent 4:185623482-185623482 - TCGA-EE-A3AE-06 COSM3602496 c.1283C>T p.P428L Substitution - Missense 4:185624134-185624134 - TCGA-CG-5721-01 COSM4123775 c.1949A>G p.H650R Substitution - Missense 4:185623468-185623468 - HT115 COSM3130790 c.1539C>T p.F513F Substitution - coding silent 4:185623878-185623878 - BN06T COSM1618670 c.1629A>G p.L543L Substitution - coding silent 4:185623788-185623788 - TCGA-HU-8602-01 COSM3940828 c.1803C>T p.D601D Substitution - coding silent 4:185623614-185623614 - TCGA-EE-A29S-06 COSM3602510 c.950C>T p.S317F Substitution - Missense 4:185624467-185624467 - Pat_14_A COSM5866135 c.2416G>T p.G806W Substitution - Missense 4:185623001-185623001 - TCGA-D5-6928-01 COSM1428911 c.2851G>A p.A951T Substitution - Missense 4:185614863-185614863 - 2293776 COSM4607856 c.2626G>T p.A876S Substitution - Missense 4:185618598-185618598 - TCGA-46-3765-01 COSM733890 c.1151G>T p.C384F Substitution - Missense 4:185624266-185624266 - S00501 COSM315499 c.522A>C p.P174P Substitution - coding silent 4:185649514-185649514 - KM12 COSM3130954 c.25delT p.S9fs*56 Deletion - Frameshift 4:185662173-185662173 - 31 COSM327522 c.994T>A p.L332I Substitution - Missense 4:185624423-185624423 - 40M COSM5586642 c.885C>T p.F295F Substitution - coding silent 4:185626869-185626869 - CSCC-11-T COSM228975 c.1291C>T p.R431C Substitution - Missense 4:185624126-185624126 - TCGA-AG-3881-01 COSM288414 c.1401C>T p.S467S Substitution - coding silent 4:185624016-185624016 - SNU-175 COSM3130907 c.541C>T p.R181* Substitution - Nonsense 4:185649495-185649495 - TCGA-BH-A0DZ-01 COSM447678 c.3205G>A p.D1069N Substitution - Missense 4:185589715-185589715 - CSCC-5-T COSM4528659 c.801G>A p.R267R Substitution - coding silent 4:185626953-185626953 - TCGA-BR-4256-01 COSM3130824 c.1122C>T p.T374T Substitution - coding silent 4:185624295-185624295 - RKO COSM1428921 c.2132delA p.N711fs*65 Deletion - Frameshift 4:185623285-185623285 - 169 COSM3729287 c.2984A>G p.E995G Substitution - Missense 4:185611880-185611880 - SNU-175 COSM3130824 c.1122C>T p.T374T Substitution - coding silent 4:185624295-185624295 - I2L-P19Tb-Tumor-Biopsy COSM5355988 c.418G>A p.A140T Substitution - Missense 4:185649618-185649618 - ATL059 COSM5709183 c.1655A>G p.E552G Substitution - Missense 4:185623762-185623762 - TCGA-ER-A198-06 COSM3602504 c.1137C>T p.I379I Substitution - coding silent 4:185624280-185624280 - 587220 COSM1227118 c.1331G>A p.R444H Substitution - Missense 4:185624086-185624086 - T578 COSM4729017 c.3244A>G p.T1082A Substitution - Missense 4:185587686-185587686 - TCGA-18-3421-01 COSM733885 c.141C>A p.T47T Substitution - coding silent 4:185657550-185657550 - TCGA-BS-A0UL-01 COSM1053848 c.2307C>T p.P769P Substitution - coding silent 4:185623110-185623110 - 11_FL COSM4171316 c.1156G>A p.D386N Substitution - Missense 4:185624261-185624261 - HCC058T COSM5805485 c.2335A>T p.R779W Substitution - Missense 4:185623082-185623082 - TCGA-FW-A3R5-06 COSM3917540 c.1415C>T p.S472F Substitution - Missense 4:185624002-185624002 - TCGA-AB-2938-03 COSM1319354 c.1896C>T p.S632S Substitution - coding silent 4:185623521-185623521 - TCGA-EE-A2MG-06 COSM3602512 c.857G>A p.G286E Substitution - Missense 4:185626897-185626897 - TCGA-EE-A2MS-06 COSM1053852 c.2023G>A p.E675K Substitution - Missense 4:185623394-185623394 - CRC-8 COSM304487 c.2491G>A p.G831S Substitution - Missense 4:185622926-185622926 - RK150_C01 COSM3767803 c.2714A>T p.H905L Substitution - Missense 4:185615085-185615085 - TCGA-B6-A40C-01 COSM4391320 c.2256G>A p.P752P Substitution - coding silent 4:185623161-185623161 - TCGA-BH-A0B6-01 COSM3825610 c.2325G>C p.L775L Substitution - coding silent 4:185623092-185623092 - CHC609T COSM4958144 c.815A>G p.Q272R Substitution - Missense 4:185626939-185626939 - TCGA-EE-A29D-06 COSM3602517 c.727C>T p.P243S Substitution - Missense 4:185630556-185630556 - TCGA-CM-6680-01 COSM1428922 c.1736T>C p.I579T Substitution - Missense 4:185623681-185623681 - RK050_C COSM1633604 c.3273T>G p.T1091T Substitution - coding silent 4:185587657-185587657 - CSCC-40-T COSM4465819 c.1101C>T p.I367I Substitution - coding silent 4:185624316-185624316 - PT33 COSM5908439 c.1339C>T p.P447S Substitution - Missense 4:185624078-185624078 - PCSI_0090_Pa_X COSM3781142 c.1685G>C p.G562A Substitution - Missense 4:185623732-185623732 - PR-02-1899 COSM247518 c.2254C>T p.P752S Substitution - Missense 4:185623163-185623163 - TCGA-CU-A0YO-01 COSM420636 c.1704G>T p.R568R Substitution - coding silent 4:185623713-185623713 - PT51 COSM5938086 c.2767C>T p.P923S Substitution - Missense 4:185614947-185614947 - LUAD-YINHD COSM350997 c.3135-1G>A p.? Unknown 4:185589786-185589786 - TCGA-CZ-5459-01 COSM481117 c.1314C>G p.I438M Substitution - Missense 4:185624103-185624103 - ESCC-D4 COSM5046221 c.337G>A p.D113N Substitution - Missense 4:185651826-185651826 - HCC041T COSM5809461 c.1948C>T p.H650Y Substitution - Missense 4:185623469-185623469 - YUAKER COSM1053860 c.1069G>A p.G357S Substitution - Missense 4:185624348-185624348 - TCGA-CG-5721-01 COSM4123763 c.2954G>T p.R985I Substitution - Missense 4:185611910-185611910 - TCGA-FW-A3R5-06 COSM3917543 c.1038G>A p.R346R Substitution - coding silent 4:185624379-185624379 - CHC609T COSM4958144 c.815A>G p.Q272R Substitution - Missense 4:185626939-185626939 - T1743 COSM288414 c.1401C>T p.S467S Substitution - coding silent 4:185624016-185624016 - sysucc-1370T COSM5471866 c.1210A>G p.S404G Substitution - Missense 4:185624207-185624207 - PT46 COSM5928632 c.1706G>A p.R569Q Substitution - Missense 4:185623711-185623711 - HCC13T COSM1618668 c.1996A>G p.T666A Substitution - Missense 4:185623421-185623421 - KM12 COSM1684018 c.22delT p.S9fs*56 Deletion - Frameshift 4:185662176-185662176 - HCC28T COSM1618658 c.3224A>G p.D1075G Substitution - Missense 4:185589696-185589696 - ESCC-F54 COSM5048010 c.1037G>A p.R346Q Substitution - Missense 4:185624380-185624380 - TCGA-D3-A51G-06 COSM3130790 c.1539C>T p.F513F Substitution - coding silent 4:185623878-185623878 - CSCC-27-T COSM4536840 c.2050G>A p.E684K Substitution - Missense 4:185623367-185623367 - TCGA-G5-6641-01 COSM1566846 c.1795G>A p.D599N Substitution - Missense 4:185623622-185623622 - AOCS-108-1-7 COSM4135526 c.268-8C>A p.? Unknown 4:185652736-185652736 - HCC159T COSM3746655 c.1932T>C p.H644H Substitution - coding silent 4:185623485-185623485 - GC_312T-GC_312N COSM4773637 c.277C>T p.R93W Substitution - Missense 4:185652719-185652719 - 2492703 COSM5600547 c.1242C>T p.S414S Substitution - coding silent 4:185624175-185624175 - ESO-669 COSM1266428 c.534G>A p.P178P Substitution - coding silent 4:185649502-185649502 - TCGA-FW-A3R5-06 COSM3917538 c.2038G>A p.E680K Substitution - Missense 4:185623379-185623379 - ATL022 COSM3130907 c.541C>T p.R181* Substitution - Nonsense 4:185649495-185649495 - 13394 COSM732906 c.1788C>T p.S596S Substitution - coding silent 4:185623629-185623629 - TCGA-DJ-A2PN-01 COSM3373454 c.1263G>C p.A421A Substitution - coding silent 4:185624154-185624154 - TCGA-CA-6717-01 COSM1428915 c.2739G>A p.P913P Substitution - coding silent 4:185615060-185615060 - CHEWS031 COSM4584967 c.1465C>A p.L489M Substitution - Missense 4:185623952-185623952 - TCGA-BQ-5890-01 COSM3993591 c.1457A>C p.H486P Substitution - Missense 4:185623960-185623960 - PT08_1 COSM5893009 c.931G>A p.D311N Substitution - Missense 4:185624486-185624486 - TCGA-ER-A199-06 COSM3602506 c.1032C>T p.V344V Substitution - coding silent 4:185624385-185624385 - TCGA-D1-A17D-01 COSM1053846 c.2668G>A p.V890I Substitution - Missense 4:185615131-185615131 - ESCC-219T COSM3940828 c.1803C>T p.D601D Substitution - coding silent 4:185623614-185623614 - Pat_16_A COSM3130668 c.3130delG p.E1044fs*>57 Deletion - Frameshift 4:185593890-185593890 - Gp5D COSM3130822 c.1145G>A p.R382Q Substitution - Missense 4:185624272-185624272 - 587376 COSM228975 c.1291C>T p.R431C Substitution - Missense 4:185624126-185624126 - T578 COSM4729026 c.1897G>A p.E633K Substitution - Missense 4:185623520-185623520 - AOCS-064-3-3 COSM4135521 c.856G>A p.G286R Substitution - Missense 4:185626898-185626898 - TCGA-GV-A3JV-01 COSM1309938 c.1092C>T p.N364N Substitution - coding silent 4:185624325-185624325 - 35M COSM5582586 c.3277C>T p.P1093S Substitution - Missense 4:185587653-185587653 - CSCC-30-T COSM4534340 c.1779G>A p.V593V Substitution - coding silent 4:185623638-185623638 - LS411 COSM3130798 c.1467G>T p.L489L Substitution - coding silent 4:185623950-185623950 - CSCC-29-T COSM4519250 c.454_455AG>TA p.S152Y Substitution - Missense 4:185649581-185649582 - HCT8 COSM3130950 c.143C>G p.T48S Substitution - Missense 4:185657548-185657548 - TCGA-FS-A1ZH-06 COSM3602498 c.1236G>A p.E412E Substitution - coding silent 4:185624181-185624181 - I2L-P19Tb-Tumor-Organoid COSM5355988 c.418G>A p.A140T Substitution - Missense 4:185649618-185649618 - TCGA-EE-A29V-06 COSM3602490 c.2121G>A p.R707R Substitution - coding silent 4:185623296-185623296 - TCGA-FW-A3R5-06 COSM1053852 c.2023G>A p.E675K Substitution - Missense 4:185623394-185623394 - BD137T COSM5504847 c.1986G>A p.P662P Substitution - coding silent 4:185623431-185623431 - HCC2998 COSM1428920 c.2135C>T p.S712L Substitution - Missense 4:185623282-185623282 - TCGA-D9-A3Z3-06 COSM3602502 c.1143C>T p.S381S Substitution - coding silent 4:185624274-185624274 - TCGA-DI-A1NN-01 COSM1053844 c.2850C>T p.N950N Substitution - coding silent 4:185614864-185614864 - CSCC-27-T COSM4562220 c.379G>A p.G127S Substitution - Missense 4:185651784-185651784 - TCGA-CJ-5672-01 COSM481118 c.818G>A p.S273N Substitution - Missense 4:185626936-185626936 - TCGA-06-0126-01 COSM2149426 c.1521C>T p.P507P Substitution - coding silent 4:185623896-185623896 - CHC304T COSM4788431 c.1586A>G p.D529G Substitution - Missense 4:185623831-185623831 - B80-3 COSM1753667 c.3190G>A p.E1064K Substitution - Missense 4:185589730-185589730 - TCGA-D5-6540-01 COSM1428919 c.2463C>T p.N821N Substitution - coding silent 4:185622954-185622954 - BRC47 COSM5026249 c.1112C>T p.T371M Substitution - Missense 4:185624305-185624305 - QC2-39-T2 COSM5655498 c.3106C>G p.H1036D Substitution - Missense 4:185593914-185593914 - 53M COSM5595364 c.1402G>A p.E468K Substitution - Missense 4:185624015-185624015 - TCGA-AA-3510-01 COSM1428920 c.2135C>T p.S712L Substitution - Missense 4:185623282-185623282 - 2292387 COSM4610774 c.2216G>C p.C739S Substitution - Missense 4:185623201-185623201 - TCGA-EB-A431-01 COSM3130907 c.541C>T p.R181* Substitution - Nonsense 4:185649495-185649495 - TCGA-AA-3663-01 COSM1428923 c.1373G>A p.R458H Substitution - Missense 4:185624044-185624044 - CSCC-7-T COSM228975 c.1291C>T p.R431C Substitution - Missense 4:185624126-185624126 - HCC155T COSM5809461 c.1948C>T p.H650Y Substitution - Missense 4:185623469-185623469 - TCGA-B5-A0K2-01 COSM1053860 c.1069G>A p.G357S Substitution - Missense 4:185624348-185624348 - sysucc-311T COSM288414 c.1401C>T p.S467S Substitution - coding silent 4:185624016-185624016 - HCT15 COSM1053853 c.1935C>T p.H645H Substitution - coding silent 4:185623482-185623482 - 2492702 COSM5600547 c.1242C>T p.S414S Substitution - coding silent 4:185624175-185624175 - TCGA-B5-A11J-01 COSM1053854 c.1762C>T p.Q588* Substitution - Nonsense 4:185623655-185623655 - TCGA-DD-A1EB-01 COSM4928822 c.2924G>A p.W975* Substitution - Nonsense 4:185611940-185611940 - 223 COSM4425530 c.2065G>A p.E689K Substitution - Missense 4:185623352-185623352 - PR-00-1165 COSM247519 c.123G>A p.A41A Substitution - coding silent 4:185657568-185657568 - HCT15 COSM3130950 c.143C>G p.T48S Substitution - Missense 4:185657548-185657548 - TCGA-AA-3947-01 COSM296871 c.1952G>A p.R651H Substitution - Missense 4:185623465-185623465 - CHC892T COSM4796494 c.1843G>A p.G615R Substitution - Missense 4:185623574-185623574 - T3118 COSM4729024 c.2119C>T p.R707W Substitution - Missense 4:185623298-185623298 - TCGA-BR-4368-01 COSM4123781 c.94G>A p.D32N Substitution - Missense 4:185662104-185662104 - TCGA-24-1845-01 COSM1328586 c.2056A>T p.R686* Substitution - Nonsense 4:185623361-185623361 - TCGA-AX-A05Z-01 COSM1053866 c.463G>A p.D155N Substitution - Missense 4:185649573-185649573 - DLD1 COSM447678 c.3205G>A p.D1069N Substitution - Missense 4:185589715-185589715 - TCGA-EE-A20C-06 COSM3602500 c.1220C>T p.S407F Substitution - Missense 4:185624197-185624197 - HX15T COSM1618663 c.3130G>T p.E1044* Substitution - Nonsense 4:185593890-185593890 - PT52 COSM5939296 c.1104G>A p.W368* Substitution - Nonsense 4:185624313-185624313 - TCGA-06-0126 COSM2149426 c.1521C>T p.P507P Substitution - coding silent 4:185623896-185623896 - TCGA-FS-A1ZZ-06 COSM3130790 c.1539C>T p.F513F Substitution - coding silent 4:185623878-185623878 - ME044T COSM228975 c.1291C>T p.R431C Substitution - Missense 4:185624126-185624126 - Pat_63_A COSM5866139 c.1274C>T p.P425L Substitution - Missense 4:185624143-185624143 - TCGA-GV-A3QI-01 COSM1309937 c.1840G>C p.E614Q Substitution - Missense 4:185623577-185623577 - ESCC-D4 COSM5046217 c.340G>A p.D114N Substitution - Missense 4:185651823-185651823 - TCGA-B5-A11E-01 COSM1053840 c.3031C>T p.P1011S Substitution - Missense 4:185611833-185611833 - TCGA-D1-A17Q-01 COSM1053852 c.2023G>A p.E675K Substitution - Missense 4:185623394-185623394 - TCGA-66-2771-01 COSM733891 c.1533C>T p.S511S Substitution - coding silent 4:185623884-185623884 - HCC063T COSM5812284 c.87A>T p.T29T Substitution - coding silent 4:185662111-185662111 - CSCC-49-T COSM4457180 c.498C>T p.S166S Substitution - coding silent 4:185649538-185649538 - PT21_2 COSM4425530 c.2065G>A p.E689K Substitution - Missense 4:185623352-185623352 - TCGA-22-5471-01 COSM732907 c.2255C>A p.P752Q Substitution - Missense 4:185623162-185623162 - TCGA-D3-A3MU-06 COSM3602492 c.2000G>A p.R667Q Substitution - Missense 4:185623417-185623417 - TCGA-D3-A51G-06 COSM3130734 c.2738C>T p.P913L Substitution - Missense 4:185615061-185615061 - GC9_T COSM1580087 c.266C>T p.T89M Substitution - Missense 4:185657425-185657425 - TCGA-CA-6717-01 COSM1428926 c.841C>T p.R281* Substitution - Nonsense 4:185626913-185626913 - TCGA-74-6573-01 COSM3409202 c.1525C>T p.R509C Substitution - Missense 4:185623892-185623892 - T368 COSM3130788 c.1692delC p.A565fs*49 Deletion - Frameshift 4:185623725-185623725 - tumor_4147081 COSM5737145 c.1279G>A p.V427I Substitution - Missense 4:185624138-185624138 - T256 COSM1428915 c.2739G>A p.P913P Substitution - coding silent 4:185615060-185615060 - TCGA-29-1784-01 COSM1328582 c.332C>T p.P111L Substitution - Missense 4:185652664-185652664 - TCGA-AX-A0J0-01 COSM1053842 c.2955A>G p.R985R Substitution - coding silent 4:185611909-185611909 - T3152 COSM211511 c.3130_3131insG p.E1044fs*8 Insertion - Frameshift 4:185593889-185593890 - PD8609a COSM1309938 c.1092C>T p.N364N Substitution - coding silent 4:185624325-185624325 - QC2-39-T2 COSM5655503 c.709G>C p.D237H Substitution - Missense 4:185630574-185630574 - TCGA-A8-A081-01 COSM447681 c.1654G>C p.E552Q Substitution - Missense 4:185623763-185623763 - TCGA-A7-A4SA-01 COSM3825612 c.1020G>A p.Q340Q Substitution - coding silent 4:185624397-185624397 - PD18756a COSM5784007 c.2857A>G p.T953A Substitution - Missense 4:185614857-185614857 - 2492701 COSM5600547 c.1242C>T p.S414S Substitution - coding silent 4:185624175-185624175 - cSCCP8 COSM140505 c.686C>T p.A229V Substitution - Missense 4:185630597-185630597 - T464 COSM1053857 c.1534G>A p.E512K Substitution - Missense 4:185623883-185623883 - Pat_04_A COSM5866141 c.1256C>T p.P419L Substitution - Missense 4:185624161-185624161 - TCGA-EM-A2P3-01 COSM1053870 c.204A>G p.K68K Substitution - coding silent 4:185657487-185657487 - PT51 COSM5938081 c.2815G>A p.E939K Substitution - Missense 4:185614899-185614899 - T36 COSM3130668 c.3130delG p.E1044fs*>57 Deletion - Frameshift 4:185593890-185593890 - TCGA-AX-A0J1-01 COSM1053838 c.3209T>G p.V1070G Substitution - Missense 4:185589711-185589711 - TCGA-CJ-4638-01 COSM481114 c.3243G>A p.G1081G Substitution - coding silent 4:185587687-185587687 - TCGA-BR-8680-01 COSM4123768 c.2759T>G p.L920R Substitution - Missense 4:185614955-185614955 - STC232 COSM211511 c.3130_3131insG p.E1044fs*8 Insertion - Frameshift 4:185593889-185593890 - PT37 COSM5918523 c.1070G>A p.G357D Substitution - Missense 4:185624347-185624347 - TCGA-BQ-5890-01 COSM3993589 c.1458C>T p.H486H Substitution - coding silent 4:185623959-185623959 - YUQUEST COSM5400947 c.2733C>T p.I911I Substitution - coding silent 4:185615066-185615066 - TCGA-AD-6964-01 COSM1428925 c.1297A>G p.N433D Substitution - Missense 4:185624120-185624120 - CHC892T COSM4796494 c.1843G>A p.G615R Substitution - Missense 4:185623574-185623574 - 68 COSM5014468 c.157C>G p.P53A Substitution - Missense 4:185657534-185657534 - Pat_60_B COSM4171316 c.1156G>A p.D386N Substitution - Missense 4:185624261-185624261 - TCGA-61-2104-01 COSM111645 c.2643delG p.E881fs*37 Deletion - Frameshift 4:185615156-185615156 - RK042_C COSM1633609 c.3084+1G>A p.? Unknown 4:185611779-185611779 - SNU-C4 COSM4653794 c.358A>G p.T120A Substitution - Missense 4:185651805-185651805 - CSCC-45-T COSM4449639 c.2593-1G>A p.? Unknown 4:185618632-185618632 - TCGA-18-3409-01 COSM732910 c.2822G>A p.G941E Substitution - Missense 4:185614892-185614892 - LUAD-B00416 COSM331401 c.507T>C p.P169P Substitution - coding silent 4:185649529-185649529 - TCGA-D5-6538-01 COSM1428930 c.768G>T p.R256R Substitution - coding silent 4:185626986-185626986 - TCGA-BS-A0UF-01 COSM167267 c.616C>T p.R206W Substitution - Missense 4:185646736-185646736 - TCGA-FW-A3R5-06 COSM3917533 c.2576G>A p.G859E Substitution - Missense 4:185620079-185620079 - TCGA-B5-A11E-01 COSM1053872 c.81C>T p.H27H Substitution - coding silent 4:185662117-185662117 - CSCC-49-T COSM4520829 c.542G>T p.R181L Substitution - Missense 4:185649494-185649494 - SNU-175 COSM3130816 c.1218C>T p.G406G Substitution - coding silent 4:185624199-185624199 - TCGA-A8-A08L-01 COSM447682 c.181G>C p.E61Q Substitution - Missense 4:185657510-185657510 - SNUH_G73_S1 COSM4415134 c.2507G>A p.R836H Substitution - Missense 4:185620148-185620148 - TCGA-EI-6917-01 COSM3428386 c.667C>A p.L223I Substitution - Missense 4:185646685-185646685 - Au2 COSM5600547 c.1242C>T p.S414S Substitution - coding silent 4:185624175-185624175 - TCGA-EE-A3JD-06 COSM209091 c.1494G>A p.T498T Substitution - coding silent 4:185623923-185623923 - HCC13 COSM1618668 c.1996A>G p.T666A Substitution - Missense 4:185623421-185623421 - 4_PRE-TREATMENT COSM1724315 c.2238delG p.R748fs*28 Deletion - Frameshift 4:185623179-185623179 - B80-3-Tumor COSM1753667 c.3190G>A p.E1064K Substitution - Missense 4:185589730-185589730 - DLD1 COSM1053853 c.1935C>T p.H645H Substitution - coding silent 4:185623482-185623482 - LUAD-NYU704 COSM376199 c.2452G>C p.D818H Substitution - Missense 4:185622965-185622965 - cSCCP6 COSM136459 c.871C>T p.L291F Substitution - Missense 4:185626883-185626883 - HCT15 COSM3130812 c.1268G>A p.G423E Substitution - Missense 4:185624149-185624149 - Pat_58_B COSM5866137 c.1949_1951delACC p.H650delH Deletion - In frame 4:185623466-185623468 - TCGA-HU-A4GX-01 COSM4123777 c.1600G>A p.V534I Substitution - Missense 4:185623817-185623817 - TCGA-AX-A0J0-01 COSM1053851 c.2047G>A p.E683K Substitution - Missense 4:185623370-185623370 - 429 COSM4433304 c.828G>A p.R276R Substitution - coding silent 4:185626926-185626926 - TCGA-A8-A09E-01 COSM1485872 c.1824_1825insA p.D609fs*13 Insertion - Frameshift 4:185623592-185623593 - TCGA-CG-4465-01 COSM4123779 c.1044A>G p.S348S Substitution - coding silent 4:185624373-185624373 - CRC-06T COSM5457111 c.1263G>A p.A421A Substitution - coding silent 4:185624154-185624154 - 2492700 COSM5600547 c.1242C>T p.S414S Substitution - coding silent 4:185624175-185624175 - PD13420a COSM3130917 c.512C>T p.P171L Substitution - Missense 4:185649524-185649524 - CSCC-30-T COSM1053872 c.81C>T p.H27H Substitution - coding silent 4:185662117-185662117 - TCGA-AM-5820-01 COSM3760525 c.1692C>G p.P564P Substitution - coding silent 4:185623725-185623725 - TCGA-AN-A046-01 COSM1428920 c.2135C>T p.S712L Substitution - Missense 4:185623282-185623282 - I2L-P17-Tumor-Organoid COSM5355853 c.730A>T p.M244L Substitution - Missense 4:185630553-185630553 - TCGA-FW-A3R5-06 COSM228975 c.1291C>T p.R431C Substitution - Missense 4:185624126-185624126 - sysucc-1397T COSM5474691 c.1955A>G p.H652R Substitution - Missense 4:185623462-185623462 - TCGA-EE-A29D-06 COSM3130782 c.1883C>T p.S628F Substitution - Missense 4:185623534-185623534 - NPC11D COSM4996413 c.2987T>C p.V996A Substitution - Missense 4:185611877-185611877 - I2L-P19Ta-Tumor-Organoid COSM5355882 c.1556A>C p.K519T Substitution - Missense 4:185623861-185623861 - BD14T COSM5517095 c.1084C>T p.R362W Substitution - Missense 4:185624333-185624333 - Gp2D COSM3130822 c.1145G>A p.R382Q Substitution - Missense 4:185624272-185624272 - CSCC-7-T COSM4459339 c.583C>T p.P195S Substitution - Missense 4:185646769-185646769 - SS6003111 COSM5033050 c.243C>T p.S81S Substitution - coding silent 4:185657448-185657448 - ESCC_BICR_020T COSM5429291 c.2494_2495insTG p.A832fs*16 Insertion - Frameshift 4:185622922-185622923 - SWE-53 COSM1180394 c.1567A>G p.M523V Substitution - Missense 4:185623850-185623850 - LIM1899 COSM3130788 c.1692delC p.A565fs*49 Deletion - Frameshift 4:185623725-185623725 - PT08_2 COSM5893011 c.2113C>T p.P705S Substitution - Missense 4:185623304-185623304 - Au10 COSM5598801 c.860C>T p.S287L Substitution - Missense 4:185626894-185626894 - T1154 COSM4729033 c.1177G>A p.D393N Substitution - Missense 4:185624240-185624240 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.619665;Hs.619667;Hs.619668;Hs.619671;Hs.619673;Hs.619675;Hs.619676;Hs.619678;Hs.619679;Hs.619680;Hs.619682;Hs.619683;Hs.619687;Hs.619689;Hs.619691;Hs.619692;Hs.619693;Hs.619695;Hs.619696;Hs.619697;Hs.619698;Hs.619699;Hs.619700;Hs.619701;Hs.619702;Hs.619703;Hs.619704;Hs.619705;Hs.619706;Hs.619707;Hs.619708;Hs.619709;Hs.619710;Hs.619711;Hs.619712;Hs.619713;Hs.619716;Hs.619717;Hs.619718;Hs.619719;Hs.619720;Hs.619721;Hs.619722;Hs.619724;Hs.619725;Hs.619726;Hs.619728;Hs.619730;Hs.619731;Hs.619732;Hs.619733;Hs.619734;Hs.619735;Hs.619736;Hs.619737;Hs.619738;Hs.619739;Hs.619740;Hs.619741;Hs.619743;Hs.619744;Hs.619745;Hs.619746;Hs.619748;Hs.619749;Hs.619750;Hs.619751;Hs.619753;Hs.619754;Hs.619755;Hs.619756;Hs.619757;Hs.619759;Hs.619760;Hs.619761;Hs.619762;Hs.619763;Hs.619767;Hs.619768;Hs.619770;Hs.619771;Hs.619772;Hs.619776;Hs.619777;Hs.619778;Hs.619779;Hs.619780;Hs.619782;Hs.619784;Hs.619785;Hs.619786;Hs.619787;Hs.619791;Hs.619801;Hs.619806 4q35.1 2461476|CGAP|BC011883|A/C|non-coding||2559|Validated; 2422734|dbSNP|BC011883|G/T|coding|Ser371Ser|1676|Candidate Hs.655143 4q35.1 2461476|CGAP|BC011883|A/C|non-coding||2559|Validated; 2422734|dbSNP|BC011883|G/T|coding|Ser371Ser|1676|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S21A c.61T>G 4 186583291 SCLC A C Synonymous p.T1091T c.3273T>G 4 186508811 HC A G IntronicSNV . c.685-7554T>C 4 186559306 UCEC A T Missense p.C805S c.2413T>A 4 186544158 BRCA C A 5-UTRSNV . c.1-12G>T 4 186583363 HNSC C A IntronicSNV . c.1-135404G>T 4 186718755 PIA C A Missense p.A365S c.1093G>T 4 186545478 HNSC C A Missense p.C384F c.1151G>T 4 186545420 LUSC C A Missense p.D623Y c.1867G>T 4 186544704 SCLC C A Synonymous p.R568R c.1704G>T 4 186544867 BLCA CATATATAT - IntronicDeletion . c.1-26571_1-26563delATATATATG 4 186609914 CLL CATGTCCCGGGG - InFrameDeletion p.P502_M505delPRDM c.1504_1515delCCCCGGGACATG 4 186545056 RCCC C - Frameshift p.E1044Nfs*73 c.3130delG 4 186515044 STAD C - Frameshift p.E881Dfs*37 c.2643delG 4 186536310 OV C G Missense p.E552Q c.1654G>C 4 186544917 BRCA C G Missense p.E614Q c.1840G>C 4 186544731 BLCA C G Missense p.E61Q c.181G>C 4 186578664 BRCA C G Missense p.Q518H c.1554G>C 4 186545017 HNSC C G Synonymous p.A421A c.1263G>C 4 186545308 THCA C T 5-UTRSNV . c.1-16264G>A 4 186599615 RCCC C T IntronicSNV . c.684+7734G>A 4 186560088 UCEC C T Missense p.D32N c.94G>A 4 186583258 STAD C T Missense p.E468K c.1402G>A 4 186545169 HNSC C T Missense p.E675K c.2023G>A 4 186544548 CM C T Missense p.G268D c.803G>A 4 186548105 CM C T Missense p.G286E c.857G>A 4 186548051 CM C T Missense p.G357S c.1069G>A 4 186545502 HNSC C T Missense p.G357S c.1069G>A 4 186545502 UCEC C T Missense p.G637E c.1910G>A 4 186544661 CM C T Missense p.R667Q c.2000G>A 4 186544571 CM C T Missense p.S273N c.818G>A 4 186548090 RCCC C T Missense p.V593M c.1777G>A 4 186544794 CM C T Missense p.V890I c.2668G>A 4 186536285 UCEC C T Synonymous p.E412E c.1236G>A 4 186545335 CM C T Synonymous p.E587E c.1761G>A 4 186544810 UCEC C T Synonymous p.G1081G c.3243G>A 4 186508841 RCCC C T Synonymous p.Q877Q c.2631G>A 4 186539747 LUAD C T Synonymous p.R1055R c.3165G>A 4 186510909 LUSC C T Synonymous p.R566R c.1698G>A 4 186544873 CM C T Synonymous p.R707R c.2121G>A 4 186544450 CM C T Synonymous p.T498T c.1494G>A 4 186545077 CM G A IntronicSNV . c.267+559C>T 4 186578019 HC G A IntronicSNV . c.3134+303C>T 4 186514737 MB G A Missense p.A351V c.1052C>T 4 186545519 CM G A Missense p.A575V c.1724C>T 4 186544847 CM G A Missense p.P195S c.583C>T 4 186567923 CM G A Missense p.P428L c.1283C>T 4 186545288 CM G A Missense p.P539L c.1616C>T 4 186544955 LUAD G A Missense p.R431C c.1291C>T 4 186545280 CM G A Missense p.R509C c.1525C>T 4 186545046 GBM G A Missense p.S317F c.950C>T 4 186545621 CM G A Missense p.S376F c.1127C>T 4 186545444 HNSC G A Missense p.S407F c.1220C>T 4 186545351 CM G A Missense p.T371M c.1112C>T 4 186545459 BRCA G A Missense p.T860I c.2579C>T 4 186541230 LUAD G A Nonsense p.Q588* c.1762C>T 4 186544809 UCEC G A Synonymous p.F513F c.1539C>T 4 186545032 CM G A Synonymous p.I379I c.1137C>T 4 186545434 CM G A Synonymous p.I761I c.2283C>T 4 186544288 LUAD G A Synonymous p.N364N c.1092C>T 4 186545479 BLCA G A Synonymous p.N950N c.2850C>T 4 186536018 UCEC G A Synonymous p.P507P c.1521C>T 4 186545050 GBM G A Synonymous p.P769P c.2307C>T 4 186544264 UCEC G A Synonymous p.S30S c.90C>T 4 186583262 CM G A Synonymous p.S317S c.951C>T 4 186545620 CM G A Synonymous p.S467S c.1401C>T 4 186545170 COREAD G A Synonymous p.S511S c.1533C>T 4 186545038 LUSC G A Synonymous p.S596S c.1788C>T 4 186544783 LUSC G A Synonymous p.S596S c.1788C>T 4 186544783 NSCLC G A Synonymous p.S632S c.1896C>T 4 186544675 AML G A Synonymous p.T374T c.1122C>T 4 186545449 STAD G A Synonymous p.V344V c.1032C>T 4 186545539 CM G C Missense p.I438M c.1314C>G 4 186545257 RCCC G C Missense p.S573C c.1718C>G 4 186544853 HNSC G C Missense p.T48S c.143C>G 4 186578702 STAD GGTAGAAATCCTCCGAGTTTGAGAATCTT - IntronicDeletion . c.1-15125_1-15097delAAGATTCTCAAACTCGGAGGATTTCTACC 4 186598448 BRCA G T IntronicSNV . c.267+718C>A 4 186577860 RCCC G T Missense p.P662T c.1984C>A 4 186544587 HNSC G T Missense p.P752Q c.2255C>A 4 186544316 LUSC G T Synonymous p.T47T c.141C>A 4 186578704 LUSC T A Missense p.R771W c.2311A>T 4 186544260 LUAD T C IntronicSNV . c.1-109722A>G 4 186693073 HC T C IntronicSNV . c.1-139065A>G 4 186722416 CLL T C IntronicSNV . c.685-4791A>G 4 186556543 BRCA T C Missense p.D385G c.1154A>G 4 186545417 HNSC T C Missense p.E939G c.2816A>G 4 186536052 OV T C Missense p.K521E c.1561A>G 4 186545010 UCEC T C Missense p.Y215C c.644A>G 4 186567862 HNSC T C Missense p.Y480C c.1439A>G 4 186545132 BRCA T C Synonymous p.K68K c.204A>G 4 186578641 THCA T C Synonymous p.S348S c.1044A>G 4 186545527 STAD - T Frameshift p.S608Rfs*2 c.1823_1824insA 4 186544747 BRCA T G IntronicSNV . c.1-108988A>C 4 186692339 HC T G IntronicSNV . c.1-3754A>C 4 186587105 MB T G Synonymous p.P174P c.522A>C 4 186570668 SCLC