Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 108138963 108138963 + Splice_Site SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:108138963C>A c.2221G>T c.(2221-2223)Gaa>Taa p.E741* ACC 1 108291635 108291635 + Missense_Mutation SNP G G C TCGA-OR-A5JF-01A-11D-A29I-10 TCGA-OR-A5JF-10A-01D-A29L-10 g.chr1:108291635G>C c.1457C>G c.(1456-1458)aCa>aGa p.T486R ACC 1 108298065 108298065 + Missense_Mutation SNP A A C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:108298065A>C c.1157T>G c.(1156-1158)cTa>cGa p.L386R ACC 1 108417589 108417589 + Silent SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:108417589C>A c.255G>T c.(253-255)acG>acT p.T85T BLCA 1 108138883 108138883 + Missense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr1:108138883C>G c.2301G>C c.(2299-2301)aaG>aaC p.K767N BLCA 1 108145672 108145672 + Missense_Mutation SNP A A T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:108145672A>T c.2129T>A c.(2128-2130)aTt>aAt p.I710N BLCA 1 108145726 108145726 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 g.chr1:108145726C>A c.2075G>T c.(2074-2076)aGt>aTt p.S692I BLCA 1 108185292 108185292 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:108185292G>A c.1863C>T c.(1861-1863)gcC>gcT p.A621A BLCA 1 108247667 108247667 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr1:108247667C>G c.1519G>C c.(1519-1521)Gac>Cac p.D507H BLCA 1 108319912 108319912 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:108319912G>C c.387C>G c.(385-387)ttC>ttG p.F129L BLCA 1 108417567 108417567 + Missense_Mutation SNP G G T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr1:108417567G>T c.277C>A c.(277-279)Ctt>Att p.L93I BLCA 1 108417594 108417594 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr1:108417594C>T c.250G>A c.(250-252)Gag>Aag p.E84K BRCA 1 108226109 108226109 + Splice_Site SNP C C A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 g.chr1:108226109C>A c.e19+1 BRCA 1 108292204 108292204 + Missense_Mutation SNP T T G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 g.chr1:108292204T>G c.1272A>C c.(1270-1272)ttA>ttC p.L424F BRCA 1 108293776 108293776 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:108293776G>A c.1222C>T c.(1222-1224)Cga>Tga p.R408* BRCA 1 108299921 108299921 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 g.chr1:108299921C>G c.1048G>C c.(1048-1050)Gag>Cag p.E350Q BRCA 1 108299953 108299953 + Splice_Site SNP T T C TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 g.chr1:108299953T>C c.e11-2 BRCA 1 108303488 108303488 + Missense_Mutation SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr1:108303488C>G c.935G>C c.(934-936)aGa>aCa p.R312T BRCA 1 108507315 108507317 + In_Frame_Del DEL CTC CTC - TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 g.chr1:108507315_108507317delCTC c.175_177delGAG c.(175-177)gagdel p.E59del CESC 1 108116734 108116734 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr1:108116734C>G c.2437G>C c.(2437-2439)Gat>Cat p.D813H CESC 1 108292200 108292200 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 g.chr1:108292200C>G c.1276G>C c.(1276-1278)Gat>Cat p.D426H CESC 1 108315446 108315446 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr1:108315446C>T c.466G>A c.(466-468)Gaa>Aaa p.E156K CHOL 1 108247684 108247684 + Splice_Site SNP C C A TCGA-W5-AA2O-01A-11D-A417-09 TCGA-W5-AA2O-10A-01D-A41A-09 g.chr1:108247684C>A c.e16-1 COAD 1 108115978 108115978 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:108115978G>A c.2519C>T c.(2518-2520)tCc>tTc p.S840F COAD 1 108145748 108145748 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:108145748C>T c.2053G>A c.(2053-2055)Gaa>Aaa p.E685K COAD 1 108145748 108145748 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:108145748C>T c.2053G>A c.(2053-2055)Gaa>Aaa p.E685K COAD 1 108160195 108160195 + Nonsense_Mutation SNP G G T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr1:108160195G>T c.1974C>A c.(1972-1974)tgC>tgA p.C658* COAD 1 108160199 108160199 + Missense_Mutation SNP G G T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr1:108160199G>T c.1970C>A c.(1969-1971)cCt>cAt p.P657H COAD 1 108160213 108160213 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:108160213A>C c.1956T>G c.(1954-1956)agT>agG p.S652R COAD 1 108185302 108185302 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:108185302T>C c.1853A>G c.(1852-1854)cAg>cGg p.Q618R COAD 1 108185302 108185302 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr1:108185302T>C c.1853A>G c.(1852-1854)cAg>cGg p.Q618R COAD 1 108185361 108185361 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:108185361C>T c.1794G>A c.(1792-1794)caG>caA p.Q598Q COAD 1 108231023 108231023 + Missense_Mutation SNP C C T TCGA-AA-3867-01A-01W-0995-10 TCGA-AA-3867-10A-01W-0995-10 g.chr1:108231023C>T c.1711G>A c.(1711-1713)Ggg>Agg p.G571R COAD 1 108247245 108247245 + Missense_Mutation SNP A A C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:108247245A>C c.1632T>G c.(1630-1632)tgT>tgG p.C544W COAD 1 108291628 108291628 + Missense_Mutation SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:108291628A>C c.1464T>G c.(1462-1464)gaT>gaG p.D488E COAD 1 108291645 108291645 + Missense_Mutation SNP A A T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:108291645A>T c.1447T>A c.(1447-1449)Tat>Aat p.Y483N COAD 1 108291646 108291646 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:108291646A>C c.1446T>G c.(1444-1446)ttT>ttG p.F482L COAD 1 108298068 108298068 + Missense_Mutation SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr1:108298068T>C c.1154A>G c.(1153-1155)cAg>cGg p.Q385R COAD 1 108298101 108298101 + Missense_Mutation SNP T T C TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr1:108298101T>C c.1121A>G c.(1120-1122)gAt>gGt p.D374G COAD 1 108298101 108298101 + Missense_Mutation SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:108298101T>C c.1121A>G c.(1120-1122)gAt>gGt p.D374G COAD 1 108311110 108311110 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr1:108311110T>C c.670A>G c.(670-672)Aga>Gga p.R224G COAD 1 108313292 108313292 + Missense_Mutation SNP T T C TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:108313292T>C c.614A>G c.(613-615)gAa>gGa p.E205G COAD 1 108313293 108313293 + Nonsense_Mutation SNP C C A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr1:108313293C>A c.613G>T c.(613-615)Gaa>Taa p.E205* COAD 1 108313316 108313316 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:108313316A>G c.590T>C c.(589-591)cTa>cCa p.L197P COAD 1 108322074 108322074 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:108322074G>A c.362C>T c.(361-363)gCa>gTa p.A121V COAD 1 108322087 108322087 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:108322087G>A c.349C>T c.(349-351)Cga>Tga p.R117* COAD 1 108417523 108417523 + Splice_Site SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:108417523C>A c.321G>T c.(319-321)aaG>aaT p.K107N COAD 1 108417636 108417636 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:108417636G>T c.208C>A c.(208-210)Ctc>Atc p.L70I COAD 1 108507301 108507301 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:108507301G>A c.191C>T c.(190-192)cCg>cTg p.P64L COAD 1 108507337 108507337 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:108507337G>A c.155C>T c.(154-156)gCg>gTg p.A52V COAD 1 108507484 108507484 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:108507484G>A c.8C>T c.(7-9)cCg>cTg p.P3L COADREAD 1 108115978 108115978 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:108115978G>A c.2519C>T c.(2518-2520)tCc>tTc p.S840F COADREAD 1 108145748 108145748 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:108145748C>T c.2053G>A c.(2053-2055)Gaa>Aaa p.E685K COADREAD 1 108145748 108145748 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:108145748C>T c.2053G>A c.(2053-2055)Gaa>Aaa p.E685K COADREAD 1 108160195 108160195 + Nonsense_Mutation SNP G G T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr1:108160195G>T c.1974C>A c.(1972-1974)tgC>tgA p.C658* COADREAD 1 108160199 108160199 + Missense_Mutation SNP G G T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr1:108160199G>T c.1970C>A c.(1969-1971)cCt>cAt p.P657H COADREAD 1 108160213 108160213 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:108160213A>C c.1956T>G c.(1954-1956)agT>agG p.S652R COADREAD 1 108185302 108185302 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:108185302T>C c.1853A>G c.(1852-1854)cAg>cGg p.Q618R COADREAD 1 108185302 108185302 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr1:108185302T>C c.1853A>G c.(1852-1854)cAg>cGg p.Q618R COADREAD 1 108185361 108185361 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:108185361C>T c.1794G>A c.(1792-1794)caG>caA p.Q598Q COADREAD 1 108231023 108231023 + Missense_Mutation SNP C C T TCGA-AA-3867-01A-01W-0995-10 TCGA-AA-3867-10A-01W-0995-10 g.chr1:108231023C>T c.1711G>A c.(1711-1713)Ggg>Agg p.G571R COADREAD 1 108247245 108247245 + Missense_Mutation SNP A A C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:108247245A>C c.1632T>G c.(1630-1632)tgT>tgG p.C544W COADREAD 1 108291628 108291628 + Missense_Mutation SNP A A C TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:108291628A>C c.1464T>G c.(1462-1464)gaT>gaG p.D488E COADREAD 1 108291645 108291645 + Missense_Mutation SNP A A T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:108291645A>T c.1447T>A c.(1447-1449)Tat>Aat p.Y483N COADREAD 1 108291646 108291646 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:108291646A>C c.1446T>G c.(1444-1446)ttT>ttG p.F482L COADREAD 1 108293775 108293775 + Missense_Mutation SNP C C T TCGA-AG-A01Y-01A-41W-A096-10 TCGA-AG-A01Y-11A-11W-A096-10 g.chr1:108293775C>T c.1223G>A c.(1222-1224)cGa>cAa p.R408Q COADREAD 1 108298068 108298068 + Missense_Mutation SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr1:108298068T>C c.1154A>G c.(1153-1155)cAg>cGg p.Q385R COADREAD 1 108298101 108298101 + Missense_Mutation SNP T T C TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr1:108298101T>C c.1121A>G c.(1120-1122)gAt>gGt p.D374G COADREAD 1 108298101 108298101 + Missense_Mutation SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:108298101T>C c.1121A>G c.(1120-1122)gAt>gGt p.D374G COADREAD 1 108311110 108311110 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr1:108311110T>C c.670A>G c.(670-672)Aga>Gga p.R224G COADREAD 1 108313292 108313292 + Missense_Mutation SNP T T C TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:108313292T>C c.614A>G c.(613-615)gAa>gGa p.E205G COADREAD 1 108313293 108313293 + Missense_Mutation SNP C C T TCGA-AH-6547-01A-11D-1826-10 TCGA-AH-6547-11A-02D-1826-10 g.chr1:108313293C>T c.613G>A c.(613-615)Gaa>Aaa p.E205K COADREAD 1 108313293 108313293 + Nonsense_Mutation SNP C C A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr1:108313293C>A c.613G>T c.(613-615)Gaa>Taa p.E205* COADREAD 1 108313316 108313316 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:108313316A>G c.590T>C c.(589-591)cTa>cCa p.L197P COADREAD 1 108322074 108322074 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:108322074G>A c.362C>T c.(361-363)gCa>gTa p.A121V COADREAD 1 108322087 108322087 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:108322087G>A c.349C>T c.(349-351)Cga>Tga p.R117* COADREAD 1 108417523 108417523 + Splice_Site SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:108417523C>A c.321G>T c.(319-321)aaG>aaT p.K107N COADREAD 1 108417636 108417636 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:108417636G>T c.208C>A c.(208-210)Ctc>Atc p.L70I COADREAD 1 108507301 108507301 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr1:108507301G>A c.191C>T c.(190-192)cCg>cTg p.P64L COADREAD 1 108507337 108507337 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:108507337G>A c.155C>T c.(154-156)gCg>gTg p.A52V COADREAD 1 108507455 108507455 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:108507455G>T c.37C>A c.(37-39)Cat>Aat p.H13N COADREAD 1 108507465 108507465 + Silent SNP C C T TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr1:108507465C>T c.27G>A c.(25-27)caG>caA p.Q9Q COADREAD 1 108507484 108507484 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:108507484G>A c.8C>T c.(7-9)cCg>cTg p.P3L DLBC 1 108417534 108417534 + Missense_Mutation SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr1:108417534C>T c.310G>A c.(310-312)Gac>Aac p.D104N ESCA 1 108145687 108145687 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr1:108145687T>C c.2114A>G c.(2113-2115)gAa>gGa p.E705G ESCA 1 108185341 108185341 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr1:108185341C>A c.1814G>T c.(1813-1815)gGa>gTa p.G605V GBM 1 108417540 108417540 + Missense_Mutation SNP C C A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 g.chr1:108417540C>A c.304G>T c.(304-306)Gtt>Ttt p.V102F GBMLGG 1 108116774 108116774 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:108116774G>T c.2397C>A c.(2395-2397)ttC>ttA p.F799L GBMLGG 1 108299952 108299952 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:108299952C>T c.e11-1 GBMLGG 1 108319905 108319905 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:108319905C>A c.394G>T c.(394-396)Gaa>Taa p.E132* GBMLGG 1 108417540 108417540 + Missense_Mutation SNP C C A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 g.chr1:108417540C>A c.304G>T c.(304-306)Gtt>Ttt p.V102F HNSC 1 108116684 108116684 + Silent SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr1:108116684T>A c.2487A>T c.(2485-2487)ggA>ggT p.G829G HNSC 1 108247231 108247231 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr1:108247231G>A c.1646C>T c.(1645-1647)gCg>gTg p.A549V HNSC 1 108292090 108292090 + Missense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr1:108292090G>T c.1386C>A c.(1384-1386)aaC>aaA p.N462K HNSC 1 108298048 108298048 + Splice_Site SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr1:108298048C>T c.e12+1 HNSC 1 108307728 108307728 + Silent SNP C C T TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 g.chr1:108307728C>T c.891G>A c.(889-891)aaG>aaA p.K297K HNSC 1 108315464 108315464 + Splice_Site SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 g.chr1:108315464C>G c.448G>C c.(448-450)Gaa>Caa p.E150Q HNSC 1 108417604 108417604 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr1:108417604C>A c.240G>T c.(238-240)acG>acT p.T80T KICH 1 108303461 108303461 + Missense_Mutation SNP C C T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr1:108303461C>T c.962G>A c.(961-963)cGa>cAa p.R321Q KIPAN 1 108303461 108303461 + Missense_Mutation SNP C C T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr1:108303461C>T c.962G>A c.(961-963)cGa>cAa p.R321Q KIPAN 1 108307784 108307784 + Missense_Mutation SNP C C A TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chr1:108307784C>A c.835G>T c.(835-837)Ggg>Tgg p.G279W KIRP 1 108307784 108307784 + Missense_Mutation SNP C C A TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chr1:108307784C>A c.835G>T c.(835-837)Ggg>Tgg p.G279W LGG 1 108116774 108116774 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:108116774G>T c.2397C>A c.(2395-2397)ttC>ttA p.F799L LGG 1 108299952 108299952 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:108299952C>T c.e11-1 LGG 1 108319905 108319905 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:108319905C>A c.394G>T c.(394-396)Gaa>Taa p.E132* LIHC 1 108138911 108138911 + Missense_Mutation SNP A A G TCGA-WX-AA46-01A-11D-A38X-10 TCGA-WX-AA46-10A-01D-A38X-10 g.chr1:108138911A>G c.2273T>C c.(2272-2274)tTa>tCa p.L758S LIHC 1 108152569 108152569 + Missense_Mutation SNP A A T TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr1:108152569A>T c.1999T>A c.(1999-2001)Tat>Aat p.Y667N LIHC 1 108185361 108185361 + Missense_Mutation SNP C C A TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr1:108185361C>A c.1794G>T c.(1792-1794)caG>caT p.Q598H LIHC 1 108226149 108226149 + Missense_Mutation SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr1:108226149T>C c.1738A>G c.(1738-1740)Acc>Gcc p.T580A LIHC 1 108247593 108247593 + Missense_Mutation SNP C C G TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr1:108247593C>G c.1593G>C c.(1591-1593)caG>caC p.Q531H LIHC 1 108292166 108292166 + Missense_Mutation SNP T T A TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr1:108292166T>A c.1310A>T c.(1309-1311)gAt>gTt p.D437V LIHC 1 108315394 108315394 + Missense_Mutation SNP T T G TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr1:108315394T>G c.518A>C c.(517-519)tAt>tCt p.Y173S LIHC 1 108322079 108322079 + Silent SNP A A T TCGA-G3-A3CK-01A-11D-A20W-10 TCGA-G3-A3CK-10A-01D-A20W-10 g.chr1:108322079A>T c.357T>A c.(355-357)ccT>ccA p.P119P LIHC 1 108322109 108322109 + Missense_Mutation SNP T T C TCGA-DD-AADM-01A-11D-A40R-10 TCGA-DD-AADM-10A-01D-A40U-10 g.chr1:108322109T>C c.327A>G c.(325-327)atA>atG p.I109M LUAD 1 108116693 108116693 + Missense_Mutation SNP C C A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr1:108116693C>A c.2478G>T c.(2476-2478)tgG>tgT p.W826C LUAD 1 108116723 108116723 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr1:108116723C>T c.2448G>A c.(2446-2448)aaG>aaA p.K816K LUAD 1 108116777 108116777 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:108116777G>T c.2394C>A c.(2392-2394)gaC>gaA p.D798E LUAD 1 108138841 108138841 + Silent SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr1:108138841G>T c.2343C>A c.(2341-2343)ggC>ggA p.G781G LUAD 1 108138873 108138873 + Missense_Mutation SNP G G T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr1:108138873G>T c.2311C>A c.(2311-2313)Cat>Aat p.H771N LUAD 1 108138931 108138931 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:108138931G>T c.2253C>A c.(2251-2253)ctC>ctA p.L751L LUAD 1 108145771 108145771 + Missense_Mutation SNP A A G TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:108145771A>G c.2030T>C c.(2029-2031)aTg>aCg p.M677T LUAD 1 108152588 108152588 + Splice_Site SNP C C T TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr1:108152588C>T c.e22-1 LUAD 1 108160255 108160255 + Splice_Site SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr1:108160255C>A c.e21-1 LUAD 1 108185290 108185290 + Missense_Mutation SNP C C A TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr1:108185290C>A c.1865G>T c.(1864-1866)gGg>gTg p.G622V LUAD 1 108185291 108185291 + Missense_Mutation SNP C C A TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr1:108185291C>A c.1864G>T c.(1864-1866)Ggg>Tgg p.G622W LUAD 1 108185292 108185292 + Silent SNP G G C TCGA-38-6178-01A-11D-1753-08 TCGA-38-6178-10A-01D-1753-08 g.chr1:108185292G>C c.1863C>G c.(1861-1863)gcC>gcG p.A621A LUAD 1 108185308 108185308 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:108185308G>T c.1847C>A c.(1846-1848)cCt>cAt p.P616H LUAD 1 108185324 108185324 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr1:108185324G>T c.1831C>A c.(1831-1833)Ctg>Atg p.L611M LUAD 1 108185330 108185330 + Missense_Mutation SNP G G T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr1:108185330G>T c.1825C>A c.(1825-1827)Cca>Aca p.P609T LUAD 1 108185332 108185332 + Missense_Mutation SNP G G C TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr1:108185332G>C c.1823C>G c.(1822-1824)cCc>cGc p.P608R LUAD 1 108185332 108185332 + Missense_Mutation SNP G G T TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr1:108185332G>T c.1823C>A c.(1822-1824)cCc>cAc p.P608H LUAD 1 108247587 108247587 + Silent SNP G G A TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr1:108247587G>A c.1599C>T c.(1597-1599)ctC>ctT p.L533L LUAD 1 108247659 108247659 + Silent SNP T T A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:108247659T>A c.1527A>T c.(1525-1527)gcA>gcT p.A509A LUAD 1 108247681 108247681 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr1:108247681G>T c.1505C>A c.(1504-1506)tCt>tAt p.S502Y LUAD 1 108292216 108292216 + Splice_Site SNP C C A TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr1:108292216C>A c.1260G>T c.(1258-1260)agG>agT p.R420S LUAD 1 108298048 108298048 + Splice_Site SNP C C A TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr1:108298048C>A c.e12+1 LUAD 1 108299900 108299900 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:108299900C>A c.1069G>T c.(1069-1071)Gct>Tct p.A357S LUAD 1 108303496 108303496 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr1:108303496A>T c.927T>A c.(925-927)tgT>tgA p.C309* LUAD 1 108303503 108303503 + Splice_Site SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr1:108303503T>A c.e10-2 LUAD 1 108307697 108307697 + Splice_Site SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:108307697C>A c.e9+1 LUAD 1 108307757 108307757 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:108307757C>T c.862G>A c.(862-864)Gcc>Acc p.A288T LUAD 1 108307794 108307794 + Missense_Mutation SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr1:108307794C>A c.825G>T c.(823-825)ttG>ttT p.L275F LUAD 1 108309106 108309106 + Missense_Mutation SNP G G T TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr1:108309106G>T c.784C>A c.(784-786)Cag>Aag p.Q262K LUAD 1 108313263 108313263 + Missense_Mutation SNP C C G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:108313263C>G c.643G>C c.(643-645)Gaa>Caa p.E215Q LUAD 1 108313276 108313276 + Silent SNP A A G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:108313276A>G c.630T>C c.(628-630)acT>acC p.T210T LUAD 1 108313279 108313279 + Missense_Mutation SNP T T G TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:108313279T>G c.627A>C c.(625-627)gaA>gaC p.E209D LUAD 1 108313319 108313319 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:108313319C>G c.587G>C c.(586-588)tGt>tCt p.C196S LUAD 1 108315437 108315437 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr1:108315437G>C c.475C>G c.(475-477)Ctc>Gtc p.L159V LUAD 1 108319902 108319902 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr1:108319902C>G c.397G>C c.(397-399)Gaa>Caa p.E133Q LUAD 1 108322068 108322068 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 g.chr1:108322068G>A c.368C>T c.(367-369)gCc>gTc p.A123V LUAD 1 108507383 108507383 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chr1:108507383G>C c.109C>G c.(109-111)Ctc>Gtc p.L37V LUAD 1 108507399 108507399 + Missense_Mutation SNP G G T TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chr1:108507399G>T c.93C>A c.(91-93)ttC>ttA p.F31L LUAD 1 108507484 108507484 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:108507484G>T c.8C>A c.(7-9)cCg>cAg p.P3Q LUAD 1 108507486 108507486 + Silent SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr1:108507486C>T c.6G>A c.(4-6)gaG>gaA p.E2E LUSC 1 108145765 108145766 + Frame_Shift_Ins INS - - T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr1:108145765_108145766insT c.2035_2036insA c.(2035-2037)agafs p.R679fs OV 1 108160229 108160229 + Missense_Mutation SNP A A T TCGA-29-1694-01A-01W-0633-09 TCGA-29-1694-10A-01W-0633-09 g.chr1:108160229A>T c.1940T>A c.(1939-1941)gTt>gAt p.V647D OV 1 108298100 108298100 + Silent SNP A A G TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 g.chr1:108298100A>G c.1122T>C c.(1120-1122)gaT>gaC p.D374D OV 1 108299882 108299882 + Splice_Site SNP C C G TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 g.chr1:108299882C>G c.e11+1 OV 1 108311108 108311108 + Silent SNP T T C TCGA-25-1320-01A-01W-0492-08 TCGA-25-1320-10A-01W-0492-08 g.chr1:108311108T>C c.672A>G c.(670-672)agA>agG p.R224R OV 1 108313293 108313293 + Nonsense_Mutation SNP C C A TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 g.chr1:108313293C>A c.613G>T c.(613-615)Gaa>Taa p.E205* OV 1 108417536 108417536 + Missense_Mutation SNP C C A TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 g.chr1:108417536C>A c.308G>T c.(307-309)cGt>cTt p.R103L OV 1 108507379 108507379 + Missense_Mutation SNP C C G TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 g.chr1:108507379C>G c.113G>C c.(112-114)cGc>cCc p.R38P PAAD 1 108322082 108322082 + Silent SNP T T A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 g.chr1:108322082T>A c.354A>T c.(352-354)acA>acT p.T118T PRAD 1 108185257 108185257 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:108185257T>C c.1898A>G c.(1897-1899)cAc>cGc p.H633R PRAD 1 108231002 108231002 + Splice_Site SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 g.chr1:108231002C>T c.e18+1 PRAD 1 108247662 108247662 + Silent SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 g.chr1:108247662A>G c.1524T>C c.(1522-1524)taT>taC p.Y508Y PRAD 1 108417551 108417551 + Missense_Mutation SNP T T A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 g.chr1:108417551T>A c.293A>T c.(292-294)gAc>gTc p.D98V PRAD 1 108417620 108417620 + Missense_Mutation SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 g.chr1:108417620A>C c.224T>G c.(223-225)aTa>aGa p.I75R READ 1 108293775 108293775 + Missense_Mutation SNP C C T TCGA-AG-A01Y-01A-41W-A096-10 TCGA-AG-A01Y-11A-11W-A096-10 g.chr1:108293775C>T c.1223G>A c.(1222-1224)cGa>cAa p.R408Q READ 1 108313293 108313293 + Missense_Mutation SNP C C T TCGA-AH-6547-01A-11D-1826-10 TCGA-AH-6547-11A-02D-1826-10 g.chr1:108313293C>T c.613G>A c.(613-615)Gaa>Aaa p.E205K READ 1 108507455 108507455 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:108507455G>T c.37C>A c.(37-39)Cat>Aat p.H13N READ 1 108507465 108507465 + Silent SNP C C T TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr1:108507465C>T c.27G>A c.(25-27)caG>caA p.Q9Q SARC 1 108293737 108293737 + Splice_Site SNP A A G TCGA-IF-A4AK-01A-21D-A24N-09 TCGA-IF-A4AK-11A-11D-A24N-09 g.chr1:108293737A>G c.e13+1 SKCM 1 108145775 108145775 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:108145775C>T c.2026G>A c.(2026-2028)Gca>Aca p.A676T SKCM 1 108152553 108152553 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:108152553C>T c.2015G>A c.(2014-2016)tGg>tAg p.W672* SKCM 1 108226151 108226151 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:108226151C>T c.1736G>A c.(1735-1737)cGg>cAg p.R579Q SKCM 1 108247175 108247175 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr1:108247175C>T c.1702G>A c.(1702-1704)Ggt>Agt p.G568S SKCM 1 108292186 108292186 + Silent SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr1:108292186G>A c.1290C>T c.(1288-1290)atC>atT p.I430I SKCM 1 108293799 108293799 + Missense_Mutation SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr1:108293799C>T c.1199G>A c.(1198-1200)cGa>cAa p.R400Q SKCM 1 108303444 108303444 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:108303444G>A c.979C>T c.(979-981)Cct>Tct p.P327S SKCM 1 108303444 108303444 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr1:108303444G>A c.979C>T c.(979-981)Cct>Tct p.P327S SKCM 1 108303475 108303475 + Silent SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr1:108303475C>T c.948G>A c.(946-948)ggG>ggA p.G316G SKCM 1 108309157 108309157 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:108309157G>A c.733C>T c.(733-735)Cat>Tat p.H245Y SKCM 1 108311104 108311104 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr1:108311104G>A c.676C>T c.(676-678)Ctg>Ttg p.L226L SKCM 1 108313328 108313328 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:108313328C>T c.578G>A c.(577-579)cGa>cAa p.R193Q SKCM 1 108313335 108313335 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:108313335C>T c.571G>A c.(571-573)Gat>Aat p.D191N SKCM 1 108417609 108417609 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:108417609G>A c.235C>T c.(235-237)Ctc>Ttc p.L79F SKCM 1 108507321 108507321 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:108507321C>T c.171G>A c.(169-171)ctG>ctA p.L57L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 108145726 108145726 single base substitution C A 3_prime_UTR_variant BLCA-US 1 108145726 108145726 single base substitution C A exon_variant BLCA-US 1 108145726 108145726 single base substitution C A missense_variant S132I 395G>T BLCA-US 1 108145726 108145726 single base substitution C A missense_variant S692I 2075G>T BLCA-US 1 108145726 108145726 single base substitution C A missense_variant S96I 287G>T BLCA-US 1 108417594 108417594 single base substitution C T exon_variant BLCA-US 1 108417594 108417594 single base substitution C T missense_variant E19K 55G>A BLCA-US 1 108417594 108417594 single base substitution C T missense_variant E78K 232G>A BLCA-US 1 108417594 108417594 single base substitution C T missense_variant E84K 250G>A BOCA-FR 1 108191936 108191936 single base substitution G C intron_variant BOCA-FR 1 108383002 108383002 single base substitution T C intron_variant BOCA-FR 1 108429484 108429484 single base substitution A G intron_variant BOCA-FR 1 108459573 108459573 single base substitution G C intron_variant BOCA-FR 1 108462767 108462767 single base substitution A C intron_variant BRCA-EU 1 108109690 108109690 single base substitution C G downstream_gene_variant BRCA-EU 1 108110593 108110593 single base substitution A G downstream_gene_variant BRCA-EU 1 108111862 108111862 single base substitution G C downstream_gene_variant BRCA-EU 1 108112940 108112940 single base substitution G C downstream_gene_variant BRCA-EU 1 108115304 108115304 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 108115304 108115304 single base substitution A T downstream_gene_variant BRCA-EU 1 108115644 108115644 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 108115644 108115644 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 108115644 108115644 insertion of <=200bp - A exon_variant BRCA-EU 1 108118123 108118123 single base substitution A G intron_variant BRCA-EU 1 108122413 108122413 single base substitution C G intron_variant BRCA-EU 1 108122578 108122578 single base substitution C G intron_variant BRCA-EU 1 108123121 108123121 single base substitution T A intron_variant BRCA-EU 1 108123336 108123336 single base substitution G A intron_variant BRCA-EU 1 108124718 108124718 single base substitution T C intron_variant BRCA-EU 1 108124851 108124851 single base substitution T C intron_variant BRCA-EU 1 108125277 108125277 single base substitution A G intron_variant BRCA-EU 1 108126324 108126324 single base substitution T A intron_variant BRCA-EU 1 108127435 108127435 single base substitution T C intron_variant BRCA-EU 1 108127507 108127507 single base substitution C T intron_variant BRCA-EU 1 108127795 108127795 single base substitution C G intron_variant BRCA-EU 1 108128057 108128057 single base substitution C A intron_variant BRCA-EU 1 108128233 108128236 deletion of <=200bp TCTC - intron_variant BRCA-EU 1 108128497 108128497 single base substitution T C intron_variant BRCA-EU 1 108128622 108128622 single base substitution G A intron_variant BRCA-EU 1 108128641 108128641 single base substitution C T intron_variant BRCA-EU 1 108129171 108129171 single base substitution C T intron_variant BRCA-EU 1 108129868 108129868 single base substitution T C intron_variant BRCA-EU 1 108129875 108129875 single base substitution T C intron_variant BRCA-EU 1 108130041 108130041 single base substitution G T intron_variant BRCA-EU 1 108131115 108131115 single base substitution T C intron_variant BRCA-EU 1 108131625 108131625 deletion of <=200bp T - intron_variant BRCA-EU 1 108132103 108132103 single base substitution C T intron_variant BRCA-EU 1 108132359 108132359 single base substitution C A intron_variant BRCA-EU 1 108132940 108132940 single base substitution C G intron_variant BRCA-EU 1 108133417 108133417 single base substitution C T intron_variant BRCA-EU 1 108133423 108133423 single base substitution C T intron_variant BRCA-EU 1 108133468 108133468 single base substitution C A intron_variant BRCA-EU 1 108134492 108134492 single base substitution C T downstream_gene_variant BRCA-EU 1 108134492 108134492 single base substitution C T intron_variant BRCA-EU 1 108134819 108134819 single base substitution A G downstream_gene_variant BRCA-EU 1 108134819 108134819 single base substitution A G intron_variant BRCA-EU 1 108135131 108135131 single base substitution C G downstream_gene_variant BRCA-EU 1 108135131 108135131 single base substitution C G intron_variant BRCA-EU 1 108136757 108136757 single base substitution C G downstream_gene_variant BRCA-EU 1 108136757 108136757 single base substitution C G intron_variant BRCA-EU 1 108137703 108137703 single base substitution G T downstream_gene_variant BRCA-EU 1 108137703 108137703 single base substitution G T intron_variant BRCA-EU 1 108138114 108138114 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 108138114 108138114 deletion of <=200bp A - intron_variant BRCA-EU 1 108138129 108138129 single base substitution A T downstream_gene_variant BRCA-EU 1 108138129 108138129 single base substitution A T intron_variant BRCA-EU 1 108139139 108139139 single base substitution C A intron_variant BRCA-EU 1 108139734 108139734 single base substitution G A intron_variant BRCA-EU 1 108140567 108140567 single base substitution C G intron_variant BRCA-EU 1 108141123 108141123 single base substitution C G downstream_gene_variant BRCA-EU 1 108141123 108141123 single base substitution C G intron_variant BRCA-EU 1 108143573 108143573 single base substitution C T downstream_gene_variant BRCA-EU 1 108143573 108143573 single base substitution C T intron_variant BRCA-EU 1 108143935 108143935 single base substitution T C downstream_gene_variant BRCA-EU 1 108143935 108143935 single base substitution T C intron_variant BRCA-EU 1 108145045 108145045 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 108145045 108145045 single base substitution C G downstream_gene_variant BRCA-EU 1 108145045 108145045 single base substitution C G exon_variant BRCA-EU 1 108145045 108145045 single base substitution C G missense_variant E136Q 406G>C BRCA-EU 1 108145045 108145045 single base substitution C G missense_variant E172Q 514G>C BRCA-EU 1 108145045 108145045 single base substitution C G missense_variant E732Q 2194G>C BRCA-EU 1 108145103 108145103 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 108145103 108145103 single base substitution G T downstream_gene_variant BRCA-EU 1 108145103 108145103 single base substitution G T exon_variant BRCA-EU 1 108145103 108145103 single base substitution G T stop_gained Y116* 348C>A BRCA-EU 1 108145103 108145103 single base substitution G T stop_gained Y152* 456C>A BRCA-EU 1 108145103 108145103 single base substitution G T stop_gained Y712* 2136C>A BRCA-EU 1 108147017 108147021 deletion of <=200bp AAAAG - intron_variant BRCA-EU 1 108148038 108148038 single base substitution C T downstream_gene_variant BRCA-EU 1 108148038 108148038 single base substitution C T intron_variant BRCA-EU 1 108148668 108148668 single base substitution C G downstream_gene_variant BRCA-EU 1 108148668 108148668 single base substitution C G intron_variant BRCA-EU 1 108151352 108151352 single base substitution G C downstream_gene_variant BRCA-EU 1 108151352 108151352 single base substitution G C intron_variant BRCA-EU 1 108152981 108152981 single base substitution T C intron_variant BRCA-EU 1 108153271 108153271 single base substitution G A intron_variant BRCA-EU 1 108153571 108153571 single base substitution T C intron_variant BRCA-EU 1 108156184 108156184 single base substitution T C downstream_gene_variant BRCA-EU 1 108156184 108156184 single base substitution T C intron_variant BRCA-EU 1 108156538 108156538 single base substitution G C downstream_gene_variant BRCA-EU 1 108156538 108156538 single base substitution G C intron_variant BRCA-EU 1 108156722 108156722 single base substitution G A downstream_gene_variant BRCA-EU 1 108156722 108156722 single base substitution G A intron_variant BRCA-EU 1 108158224 108158224 single base substitution C T downstream_gene_variant BRCA-EU 1 108158224 108158224 single base substitution C T intron_variant BRCA-EU 1 108158931 108158931 single base substitution C A downstream_gene_variant BRCA-EU 1 108158931 108158931 single base substitution C A intron_variant BRCA-EU 1 108159102 108159102 single base substitution C T downstream_gene_variant BRCA-EU 1 108159102 108159102 single base substitution C T intron_variant BRCA-EU 1 108159611 108159611 single base substitution G C downstream_gene_variant BRCA-EU 1 108159611 108159611 single base substitution G C intron_variant BRCA-EU 1 108160472 108160472 single base substitution A G intron_variant BRCA-EU 1 108161354 108161354 single base substitution G C intron_variant BRCA-EU 1 108161890 108161890 single base substitution G C intron_variant BRCA-EU 1 108163166 108163166 single base substitution C A intron_variant BRCA-EU 1 108165472 108165472 single base substitution G T intron_variant BRCA-EU 1 108167819 108167819 deletion of <=200bp A - intron_variant BRCA-EU 1 108168642 108168642 deletion of <=200bp A - intron_variant BRCA-EU 1 108169247 108169247 single base substitution A C intron_variant BRCA-EU 1 108170399 108170399 single base substitution C G intron_variant BRCA-EU 1 108171584 108171584 single base substitution A T intron_variant BRCA-EU 1 108172240 108172240 deletion of <=200bp A - intron_variant BRCA-EU 1 108172499 108172500 deletion of <=200bp AT - intron_variant BRCA-EU 1 108173536 108173536 single base substitution C G intron_variant BRCA-EU 1 108175857 108175857 insertion of <=200bp - A intron_variant BRCA-EU 1 108176506 108176506 single base substitution C T intron_variant BRCA-EU 1 108177006 108177006 single base substitution T C intron_variant BRCA-EU 1 108178658 108178658 single base substitution A G intron_variant BRCA-EU 1 108178686 108178686 single base substitution T A intron_variant BRCA-EU 1 108178834 108178834 single base substitution C T intron_variant BRCA-EU 1 108179580 108179580 deletion of <=200bp C - intron_variant BRCA-EU 1 108179657 108179657 insertion of <=200bp - TATT intron_variant BRCA-EU 1 108180943 108180943 single base substitution C A intron_variant BRCA-EU 1 108180954 108180954 single base substitution A G intron_variant BRCA-EU 1 108180966 108180966 single base substitution A G intron_variant BRCA-EU 1 108182459 108182459 single base substitution G A intron_variant BRCA-EU 1 108183542 108183542 single base substitution G A intron_variant BRCA-EU 1 108183611 108183611 single base substitution G C intron_variant BRCA-EU 1 108184278 108184278 single base substitution A G intron_variant BRCA-EU 1 108184286 108184286 single base substitution G C intron_variant BRCA-EU 1 108184703 108184703 single base substitution G C intron_variant BRCA-EU 1 108187367 108187367 single base substitution A G intron_variant BRCA-EU 1 108187468 108187468 single base substitution G A intron_variant BRCA-EU 1 108191594 108191594 single base substitution G C intron_variant BRCA-EU 1 108191692 108191692 deletion of <=200bp C - intron_variant BRCA-EU 1 108191809 108191809 single base substitution G A intron_variant BRCA-EU 1 108192184 108192184 insertion of <=200bp - T intron_variant BRCA-EU 1 108192493 108192493 single base substitution A G intron_variant BRCA-EU 1 108192812 108192812 single base substitution A G intron_variant BRCA-EU 1 108193215 108193215 single base substitution C T intron_variant BRCA-EU 1 108195645 108195645 single base substitution T A intron_variant BRCA-EU 1 108197403 108197403 single base substitution T G intron_variant BRCA-EU 1 108202624 108202624 single base substitution G C intron_variant BRCA-EU 1 108203879 108203879 single base substitution G A intron_variant BRCA-EU 1 108204026 108204026 single base substitution C T intron_variant BRCA-EU 1 108207480 108207480 single base substitution G A downstream_gene_variant BRCA-EU 1 108207480 108207480 single base substitution G A intron_variant BRCA-EU 1 108210220 108210221 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 1 108210220 108210221 deletion of <=200bp AC - intron_variant BRCA-EU 1 108211606 108211606 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 108211606 108211606 single base substitution A C exon_variant BRCA-EU 1 108211606 108211606 single base substitution A C intron_variant BRCA-EU 1 108214465 108214465 single base substitution C G intron_variant BRCA-EU 1 108214690 108214690 single base substitution G C intron_variant BRCA-EU 1 108215737 108215737 single base substitution A T intron_variant BRCA-EU 1 108216170 108216170 single base substitution G C intron_variant BRCA-EU 1 108217417 108217417 single base substitution G T intron_variant BRCA-EU 1 108217417 108217417 single base substitution G T upstream_gene_variant BRCA-EU 1 108218167 108218167 single base substitution G A intron_variant BRCA-EU 1 108218167 108218167 single base substitution G A upstream_gene_variant BRCA-EU 1 108218361 108218361 single base substitution C G intron_variant BRCA-EU 1 108218361 108218361 single base substitution C G upstream_gene_variant BRCA-EU 1 108218685 108218685 single base substitution G A intron_variant BRCA-EU 1 108218685 108218685 single base substitution G A upstream_gene_variant BRCA-EU 1 108218794 108218794 deletion of <=200bp A - intron_variant BRCA-EU 1 108218794 108218794 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 108221347 108221350 deletion of <=200bp TTTA - intron_variant BRCA-EU 1 108221347 108221350 deletion of <=200bp TTTA - upstream_gene_variant BRCA-EU 1 108221949 108221950 deletion of <=200bp CT - intron_variant BRCA-EU 1 108221949 108221950 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 1 108223407 108223407 single base substitution T C intron_variant BRCA-EU 1 108223407 108223407 single base substitution T C upstream_gene_variant BRCA-EU 1 108224965 108224966 deletion of <=200bp CA - intron_variant BRCA-EU 1 108224965 108224966 deletion of <=200bp CA - upstream_gene_variant BRCA-EU 1 108225710 108225710 single base substitution G T intron_variant BRCA-EU 1 108226391 108226391 insertion of <=200bp - A intron_variant BRCA-EU 1 108227090 108227090 single base substitution C G intron_variant BRCA-EU 1 108228622 108228622 single base substitution G C intron_variant BRCA-EU 1 108228622 108228622 single base substitution G C upstream_gene_variant BRCA-EU 1 108228752 108228752 deletion of <=200bp A - intron_variant BRCA-EU 1 108228752 108228752 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 108230418 108230418 deletion of <=200bp T - intron_variant BRCA-EU 1 108230418 108230418 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 108231560 108231560 deletion of <=200bp A - intron_variant BRCA-EU 1 108231560 108231560 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 108232044 108232044 single base substitution C G intron_variant BRCA-EU 1 108232044 108232044 single base substitution C G upstream_gene_variant BRCA-EU 1 108232411 108232411 single base substitution C T intron_variant BRCA-EU 1 108232411 108232411 single base substitution C T upstream_gene_variant BRCA-EU 1 108234592 108234592 single base substitution A G intron_variant BRCA-EU 1 108234592 108234592 single base substitution A G upstream_gene_variant BRCA-EU 1 108237781 108237781 single base substitution G A intron_variant BRCA-EU 1 108237909 108237909 single base substitution G A intron_variant BRCA-EU 1 108239393 108239393 single base substitution G A intron_variant BRCA-EU 1 108239882 108239882 single base substitution G C intron_variant BRCA-EU 1 108240914 108240914 single base substitution G A intron_variant BRCA-EU 1 108242353 108242353 single base substitution C T intron_variant BRCA-EU 1 108243145 108243145 single base substitution G A intron_variant BRCA-EU 1 108244262 108244262 single base substitution C G intron_variant BRCA-EU 1 108244657 108244657 single base substitution C G intron_variant BRCA-EU 1 108245806 108245806 single base substitution A T intron_variant BRCA-EU 1 108246860 108246860 single base substitution G C intron_variant BRCA-EU 1 108247130 108247130 single base substitution G T intron_variant BRCA-EU 1 108247641 108247641 single base substitution G A exon_variant BRCA-EU 1 108247641 108247641 single base substitution G A synonymous_variant D450D 1350C>T BRCA-EU 1 108247641 108247641 single base substitution G A synonymous_variant D509D 1527C>T BRCA-EU 1 108247641 108247641 single base substitution G A synonymous_variant D515D 1545C>T BRCA-EU 1 108247641 108247641 single base substitution G A synonymous_variant D66D 198C>T BRCA-EU 1 108248361 108248361 single base substitution C G intron_variant BRCA-EU 1 108249023 108249023 single base substitution C T intron_variant BRCA-EU 1 108249086 108249086 single base substitution G T intron_variant BRCA-EU 1 108250159 108250159 single base substitution T A intron_variant BRCA-EU 1 108251575 108251575 deletion of <=200bp C - intron_variant BRCA-EU 1 108252273 108252273 single base substitution A C intron_variant BRCA-EU 1 108253283 108253283 single base substitution T C intron_variant BRCA-EU 1 108256385 108256385 single base substitution G C intron_variant BRCA-EU 1 108257203 108257203 single base substitution G C intron_variant BRCA-EU 1 108258076 108258076 single base substitution G A intron_variant BRCA-EU 1 108258402 108258402 single base substitution G A intron_variant BRCA-EU 1 108258893 108258893 deletion of <=200bp A - intron_variant BRCA-EU 1 108259717 108259717 single base substitution C T intron_variant BRCA-EU 1 108261128 108261128 single base substitution T C intron_variant BRCA-EU 1 108261180 108261180 single base substitution G C intron_variant BRCA-EU 1 108261269 108261269 single base substitution G C intron_variant BRCA-EU 1 108262073 108262074 deletion of <=200bp AT - intron_variant BRCA-EU 1 108263233 108263233 single base substitution G C intron_variant BRCA-EU 1 108265598 108265598 single base substitution C T intron_variant BRCA-EU 1 108265895 108265895 single base substitution C T intron_variant BRCA-EU 1 108266352 108266352 single base substitution C A intron_variant BRCA-EU 1 108268522 108268522 single base substitution C G intron_variant BRCA-EU 1 108269621 108269621 single base substitution G C intron_variant BRCA-EU 1 108270965 108270965 single base substitution C A intron_variant BRCA-EU 1 108271003 108271003 single base substitution G C intron_variant BRCA-EU 1 108272345 108272345 single base substitution G T intron_variant BRCA-EU 1 108272748 108272748 single base substitution C G intron_variant BRCA-EU 1 108272928 108272929 deletion of <=200bp AC - intron_variant BRCA-EU 1 108275215 108275215 single base substitution C T intron_variant BRCA-EU 1 108275598 108275598 single base substitution C G intron_variant BRCA-EU 1 108276410 108276410 single base substitution G A intron_variant BRCA-EU 1 108276748 108276748 single base substitution G A intron_variant BRCA-EU 1 108276844 108276844 single base substitution G C intron_variant BRCA-EU 1 108277136 108277136 single base substitution A G intron_variant BRCA-EU 1 108277633 108277633 single base substitution C G intron_variant BRCA-EU 1 108277791 108277791 single base substitution G C intron_variant BRCA-EU 1 108281801 108281801 single base substitution A G intron_variant BRCA-EU 1 108282948 108282948 single base substitution A G intron_variant BRCA-EU 1 108283827 108283827 single base substitution C T intron_variant BRCA-EU 1 108284146 108284146 single base substitution T G intron_variant BRCA-EU 1 108284736 108284736 single base substitution C T intron_variant BRCA-EU 1 108285856 108285856 single base substitution C T intron_variant BRCA-EU 1 108286706 108286706 single base substitution A G intron_variant BRCA-EU 1 108286728 108286728 single base substitution T G intron_variant BRCA-EU 1 108288736 108288736 single base substitution G T intron_variant BRCA-EU 1 108288944 108288944 single base substitution G T intron_variant BRCA-EU 1 108293560 108293560 single base substitution C A intron_variant BRCA-EU 1 108293560 108293560 single base substitution C A upstream_gene_variant BRCA-EU 1 108293914 108293914 single base substitution C A intron_variant BRCA-EU 1 108293914 108293914 single base substitution C A upstream_gene_variant BRCA-EU 1 108293938 108293938 deletion of <=200bp T - intron_variant BRCA-EU 1 108293938 108293938 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 108294527 108294527 single base substitution G C intron_variant BRCA-EU 1 108294527 108294527 single base substitution G C upstream_gene_variant BRCA-EU 1 108296183 108296183 single base substitution C T intron_variant BRCA-EU 1 108296183 108296183 single base substitution C T upstream_gene_variant BRCA-EU 1 108296528 108296528 single base substitution T G intron_variant BRCA-EU 1 108296528 108296528 single base substitution T G upstream_gene_variant BRCA-EU 1 108297775 108297775 deletion of <=200bp A - intron_variant BRCA-EU 1 108299073 108299073 single base substitution T C intron_variant BRCA-EU 1 108299113 108299113 single base substitution A C intron_variant BRCA-EU 1 108299120 108299120 single base substitution G A intron_variant BRCA-EU 1 108299936 108299936 insertion of <=200bp - T exon_variant BRCA-EU 1 108299936 108299936 insertion of <=200bp - T frameshift_variant T280N? BRCA-EU 1 108299936 108299936 insertion of <=200bp - T frameshift_variant T339N? BRCA-EU 1 108299936 108299936 insertion of <=200bp - T frameshift_variant T345N? BRCA-EU 1 108301031 108301031 single base substitution A G intron_variant BRCA-EU 1 108301522 108301522 insertion of <=200bp - T intron_variant BRCA-EU 1 108302392 108302392 deletion of <=200bp T - intron_variant BRCA-EU 1 108303013 108303013 single base substitution G C intron_variant BRCA-EU 1 108304137 108304137 single base substitution G A downstream_gene_variant BRCA-EU 1 108304137 108304137 single base substitution G A intron_variant BRCA-EU 1 108304280 108304280 single base substitution A T downstream_gene_variant BRCA-EU 1 108304280 108304280 single base substitution A T intron_variant BRCA-EU 1 108306659 108306659 single base substitution G C downstream_gene_variant BRCA-EU 1 108306659 108306659 single base substitution G C intron_variant BRCA-EU 1 108307788 108307788 single base substitution A G downstream_gene_variant BRCA-EU 1 108307788 108307788 single base substitution A G exon_variant BRCA-EU 1 108307788 108307788 single base substitution A G synonymous_variant I212I 636T>C BRCA-EU 1 108307788 108307788 single base substitution A G synonymous_variant I271I 813T>C BRCA-EU 1 108307788 108307788 single base substitution A G synonymous_variant I277I 831T>C BRCA-EU 1 108308592 108308592 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 108308592 108308592 deletion of <=200bp T - intron_variant BRCA-EU 1 108308707 108308707 single base substitution C G downstream_gene_variant BRCA-EU 1 108308707 108308707 single base substitution C G intron_variant BRCA-EU 1 108308830 108308830 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 108308830 108308830 deletion of <=200bp A - intron_variant BRCA-EU 1 108309113 108309113 single base substitution T C downstream_gene_variant BRCA-EU 1 108309113 108309113 single base substitution T C exon_variant BRCA-EU 1 108309113 108309113 single base substitution T C synonymous_variant K194K 582A>G BRCA-EU 1 108309113 108309113 single base substitution T C synonymous_variant K253K 759A>G BRCA-EU 1 108309113 108309113 single base substitution T C synonymous_variant K259K 777A>G BRCA-EU 1 108312030 108312030 single base substitution A C downstream_gene_variant BRCA-EU 1 108312030 108312030 single base substitution A C intron_variant BRCA-EU 1 108312541 108312541 single base substitution A T downstream_gene_variant BRCA-EU 1 108312541 108312541 single base substitution A T intron_variant BRCA-EU 1 108315356 108315356 single base substitution C T splice_donor_variant BRCA-EU 1 108316791 108316791 single base substitution C T intron_variant BRCA-EU 1 108317077 108317077 single base substitution A C intron_variant BRCA-EU 1 108317935 108317935 single base substitution G T intron_variant BRCA-EU 1 108319474 108319474 single base substitution C G intron_variant BRCA-EU 1 108319587 108319587 single base substitution C G intron_variant BRCA-EU 1 108320630 108320630 deletion of <=200bp T - intron_variant BRCA-EU 1 108323869 108323869 single base substitution A T intron_variant BRCA-EU 1 108324353 108324353 single base substitution T C intron_variant BRCA-EU 1 108327161 108327161 single base substitution T G intron_variant BRCA-EU 1 108327845 108327845 single base substitution G A intron_variant BRCA-EU 1 108329089 108329089 single base substitution G A intron_variant BRCA-EU 1 108329089 108329089 single base substitution G A upstream_gene_variant BRCA-EU 1 108329787 108329787 single base substitution G A intron_variant BRCA-EU 1 108329787 108329787 single base substitution G A upstream_gene_variant BRCA-EU 1 108330801 108330801 single base substitution T G intron_variant BRCA-EU 1 108330801 108330801 single base substitution T G upstream_gene_variant BRCA-EU 1 108331827 108331827 single base substitution T C intron_variant BRCA-EU 1 108331827 108331827 single base substitution T C upstream_gene_variant BRCA-EU 1 108332435 108332435 single base substitution C T intron_variant BRCA-EU 1 108332435 108332435 single base substitution C T upstream_gene_variant BRCA-EU 1 108332706 108332706 deletion of <=200bp C - intron_variant BRCA-EU 1 108332706 108332706 deletion of <=200bp C - upstream_gene_variant BRCA-EU 1 108332868 108332868 single base substitution T A intron_variant BRCA-EU 1 108332868 108332868 single base substitution T A upstream_gene_variant BRCA-EU 1 108333842 108333842 single base substitution C G intron_variant BRCA-EU 1 108336144 108336144 single base substitution A T intron_variant BRCA-EU 1 108336643 108336643 single base substitution C T intron_variant BRCA-EU 1 108337037 108337037 insertion of <=200bp - T intron_variant BRCA-EU 1 108338956 108338956 single base substitution C G intron_variant BRCA-EU 1 108339739 108339739 single base substitution G A intron_variant BRCA-EU 1 108341394 108341394 single base substitution T C intron_variant BRCA-EU 1 108342335 108342335 single base substitution C T intron_variant BRCA-EU 1 108344366 108344366 single base substitution C G intron_variant BRCA-EU 1 108344882 108344882 single base substitution C G intron_variant BRCA-EU 1 108344907 108344907 single base substitution C T intron_variant BRCA-EU 1 108345616 108345616 single base substitution T G intron_variant BRCA-EU 1 108347268 108347268 single base substitution G T intron_variant BRCA-EU 1 108347372 108347372 single base substitution A C intron_variant BRCA-EU 1 108347633 108347633 single base substitution T C intron_variant BRCA-EU 1 108348331 108348331 single base substitution A T intron_variant BRCA-EU 1 108349385 108349385 deletion of <=200bp A - intron_variant BRCA-EU 1 108349799 108349799 single base substitution G A intron_variant BRCA-EU 1 108349912 108349912 single base substitution G A intron_variant BRCA-EU 1 108349984 108349984 single base substitution G C intron_variant BRCA-EU 1 108350775 108350775 single base substitution C T intron_variant BRCA-EU 1 108350979 108350979 single base substitution T C intron_variant BRCA-EU 1 108351537 108351545 deletion of <=200bp TTTCTGGAC - intron_variant BRCA-EU 1 108351877 108351877 single base substitution A G intron_variant BRCA-EU 1 108351992 108351992 single base substitution C A intron_variant BRCA-EU 1 108353214 108353214 single base substitution G T intron_variant BRCA-EU 1 108357615 108357615 single base substitution G A intron_variant BRCA-EU 1 108358556 108358556 single base substitution T A intron_variant BRCA-EU 1 108359590 108359590 single base substitution G A intron_variant BRCA-EU 1 108359776 108359776 single base substitution C T intron_variant BRCA-EU 1 108360526 108360526 single base substitution T G intron_variant BRCA-EU 1 108361549 108361549 single base substitution A G intron_variant BRCA-EU 1 108362247 108362247 single base substitution A T intron_variant BRCA-EU 1 108362902 108362902 deletion of <=200bp A - intron_variant BRCA-EU 1 108363707 108363707 single base substitution T A intron_variant BRCA-EU 1 108363707 108363707 single base substitution T A upstream_gene_variant BRCA-EU 1 108364251 108364251 single base substitution G C intron_variant BRCA-EU 1 108364251 108364251 single base substitution G C upstream_gene_variant BRCA-EU 1 108364917 108364917 single base substitution T C intron_variant BRCA-EU 1 108364917 108364917 single base substitution T C upstream_gene_variant BRCA-EU 1 108364997 108364997 single base substitution C G intron_variant BRCA-EU 1 108364997 108364997 single base substitution C G upstream_gene_variant BRCA-EU 1 108366001 108366001 single base substitution T C intron_variant BRCA-EU 1 108366001 108366001 single base substitution T C upstream_gene_variant BRCA-EU 1 108366889 108366889 single base substitution G A intron_variant BRCA-EU 1 108366889 108366889 single base substitution G A upstream_gene_variant BRCA-EU 1 108367772 108367772 single base substitution C G intron_variant BRCA-EU 1 108367772 108367772 single base substitution C G upstream_gene_variant BRCA-EU 1 108368077 108368077 deletion of <=200bp G - intron_variant BRCA-EU 1 108368077 108368077 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 108369067 108369067 single base substitution C T intron_variant BRCA-EU 1 108369332 108369332 single base substitution C T intron_variant BRCA-EU 1 108373241 108373241 single base substitution G C intron_variant BRCA-EU 1 108374154 108374154 single base substitution C T intron_variant BRCA-EU 1 108374987 108374987 single base substitution G T intron_variant BRCA-EU 1 108375525 108375525 single base substitution C T intron_variant BRCA-EU 1 108376937 108376937 single base substitution C T intron_variant BRCA-EU 1 108379200 108379200 single base substitution G T intron_variant BRCA-EU 1 108380105 108380105 single base substitution C A intron_variant BRCA-EU 1 108380510 108380510 single base substitution C T intron_variant BRCA-EU 1 108381558 108381558 single base substitution G A intron_variant BRCA-EU 1 108381688 108381688 single base substitution C A intron_variant BRCA-EU 1 108381938 108381938 single base substitution G T intron_variant BRCA-EU 1 108382551 108382551 single base substitution A G intron_variant BRCA-EU 1 108383370 108383370 single base substitution G C intron_variant BRCA-EU 1 108383509 108383509 single base substitution C G intron_variant BRCA-EU 1 108384445 108384445 deletion of <=200bp A - intron_variant BRCA-EU 1 108385418 108385418 single base substitution G A intron_variant BRCA-EU 1 108386443 108386443 single base substitution G A intron_variant BRCA-EU 1 108388255 108388255 single base substitution A T intron_variant BRCA-EU 1 108390602 108390602 single base substitution A T intron_variant BRCA-EU 1 108391146 108391146 single base substitution T C intron_variant BRCA-EU 1 108392083 108392083 insertion of <=200bp - A intron_variant BRCA-EU 1 108392373 108392373 single base substitution G A intron_variant BRCA-EU 1 108392696 108392696 single base substitution A G intron_variant BRCA-EU 1 108392784 108392784 single base substitution G C intron_variant BRCA-EU 1 108394824 108394824 single base substitution T C intron_variant BRCA-EU 1 108395318 108395318 single base substitution A G intron_variant BRCA-EU 1 108395667 108395667 single base substitution G C intron_variant BRCA-EU 1 108396249 108396249 single base substitution A T intron_variant BRCA-EU 1 108398142 108398142 single base substitution A C intron_variant BRCA-EU 1 108399409 108399409 single base substitution A C intron_variant BRCA-EU 1 108399459 108399459 single base substitution G C intron_variant BRCA-EU 1 108399872 108399872 single base substitution C G intron_variant BRCA-EU 1 108402052 108402052 single base substitution A G intron_variant BRCA-EU 1 108402419 108402419 single base substitution C A intron_variant BRCA-EU 1 108403337 108403337 single base substitution G A intron_variant BRCA-EU 1 108405193 108405193 single base substitution C A intron_variant BRCA-EU 1 108405902 108405902 single base substitution A C intron_variant BRCA-EU 1 108407010 108407010 single base substitution G A intron_variant BRCA-EU 1 108407573 108407573 single base substitution G A intron_variant BRCA-EU 1 108408021 108408021 single base substitution G C intron_variant BRCA-EU 1 108410099 108410099 single base substitution G A intron_variant BRCA-EU 1 108410289 108410289 single base substitution G A intron_variant BRCA-EU 1 108411567 108411567 single base substitution A G intron_variant BRCA-EU 1 108412407 108412407 single base substitution A T intron_variant BRCA-EU 1 108413917 108413917 single base substitution G T intron_variant BRCA-EU 1 108414299 108414299 single base substitution A T intron_variant BRCA-EU 1 108416179 108416179 single base substitution G A intron_variant BRCA-EU 1 108416404 108416404 single base substitution C T intron_variant BRCA-EU 1 108418035 108418035 single base substitution C T intron_variant BRCA-EU 1 108418745 108418745 single base substitution A G intron_variant BRCA-EU 1 108418861 108418861 single base substitution C T intron_variant BRCA-EU 1 108419814 108419814 single base substitution C A intron_variant BRCA-EU 1 108420487 108420487 single base substitution C G intron_variant BRCA-EU 1 108420980 108420980 single base substitution A G intron_variant BRCA-EU 1 108421082 108421082 single base substitution T C intron_variant BRCA-EU 1 108422011 108422011 single base substitution T C intron_variant BRCA-EU 1 108422312 108422312 single base substitution C A intron_variant BRCA-EU 1 108422375 108422375 single base substitution T C intron_variant BRCA-EU 1 108422521 108422521 single base substitution C G intron_variant BRCA-EU 1 108423675 108423675 single base substitution C T intron_variant BRCA-EU 1 108424045 108424045 single base substitution A T intron_variant BRCA-EU 1 108425359 108425359 single base substitution T C intron_variant BRCA-EU 1 108426101 108426101 single base substitution T C intron_variant BRCA-EU 1 108429778 108429778 single base substitution C A intron_variant BRCA-EU 1 108431037 108431037 single base substitution C G intron_variant BRCA-EU 1 108431139 108431139 single base substitution G A intron_variant BRCA-EU 1 108433450 108433450 single base substitution C A intron_variant BRCA-EU 1 108433502 108433502 single base substitution C T intron_variant BRCA-EU 1 108434081 108434081 single base substitution G C intron_variant BRCA-EU 1 108435779 108435779 single base substitution A G intron_variant BRCA-EU 1 108436168 108436168 single base substitution A T intron_variant BRCA-EU 1 108436234 108436234 single base substitution A G intron_variant BRCA-EU 1 108438057 108438057 single base substitution C G intron_variant BRCA-EU 1 108438821 108438821 single base substitution G A intron_variant BRCA-EU 1 108439127 108439127 single base substitution A G intron_variant BRCA-EU 1 108439561 108439561 single base substitution G T intron_variant BRCA-EU 1 108439836 108439836 single base substitution C A intron_variant BRCA-EU 1 108439897 108439897 single base substitution G A intron_variant BRCA-EU 1 108441076 108441076 single base substitution G A intron_variant BRCA-EU 1 108442366 108442366 single base substitution G C intron_variant BRCA-EU 1 108445166 108445166 deletion of <=200bp T - intron_variant BRCA-EU 1 108445888 108445888 single base substitution C T intron_variant BRCA-EU 1 108448646 108448646 single base substitution C T intron_variant BRCA-EU 1 108449981 108449981 single base substitution G C intron_variant BRCA-EU 1 108450980 108450980 single base substitution G C intron_variant BRCA-EU 1 108452291 108452291 single base substitution A G intron_variant BRCA-EU 1 108452751 108452751 single base substitution G C intron_variant BRCA-EU 1 108453717 108453717 single base substitution A T intron_variant BRCA-EU 1 108455688 108455688 insertion of <=200bp - A intron_variant BRCA-EU 1 108456346 108456346 single base substitution C A intron_variant BRCA-EU 1 108456346 108456346 single base substitution C G intron_variant BRCA-EU 1 108457220 108457220 single base substitution A T intron_variant BRCA-EU 1 108457703 108457703 single base substitution G A intron_variant BRCA-EU 1 108457829 108457829 single base substitution C T intron_variant BRCA-EU 1 108458337 108458337 deletion of <=200bp C - intron_variant BRCA-EU 1 108460431 108460431 single base substitution T A intron_variant BRCA-EU 1 108460874 108460874 single base substitution G C intron_variant BRCA-EU 1 108463016 108463016 single base substitution C G intron_variant BRCA-EU 1 108463180 108463180 single base substitution C G intron_variant BRCA-EU 1 108464193 108464193 single base substitution C G intron_variant BRCA-EU 1 108466022 108466022 single base substitution G C intron_variant BRCA-EU 1 108466114 108466114 insertion of <=200bp - A intron_variant BRCA-EU 1 108467070 108467070 single base substitution G C intron_variant BRCA-EU 1 108467377 108467377 deletion of <=200bp A - intron_variant BRCA-EU 1 108467565 108467565 single base substitution C T intron_variant BRCA-EU 1 108468653 108468653 single base substitution G C intron_variant BRCA-EU 1 108468778 108468778 single base substitution C T intron_variant BRCA-EU 1 108469086 108469086 single base substitution C G intron_variant BRCA-EU 1 108470021 108470021 single base substitution C T intron_variant BRCA-EU 1 108472711 108472711 deletion of <=200bp A - intron_variant BRCA-EU 1 108473253 108473253 deletion of <=200bp T - intron_variant BRCA-EU 1 108474062 108474062 single base substitution T A intron_variant BRCA-EU 1 108474715 108474715 single base substitution T G intron_variant BRCA-EU 1 108475498 108475498 single base substitution A T intron_variant BRCA-EU 1 108476175 108476175 single base substitution G T intron_variant BRCA-EU 1 108477663 108477663 single base substitution G A intron_variant BRCA-EU 1 108479325 108479325 single base substitution G C intron_variant BRCA-EU 1 108480833 108480833 single base substitution G A intron_variant BRCA-EU 1 108481775 108481775 deletion of <=200bp T - intron_variant BRCA-EU 1 108482056 108482056 single base substitution C T intron_variant BRCA-EU 1 108484950 108484950 single base substitution C T intron_variant BRCA-EU 1 108485729 108485729 single base substitution C A intron_variant BRCA-EU 1 108488165 108488165 single base substitution T C intron_variant BRCA-EU 1 108488234 108488234 single base substitution T C intron_variant BRCA-EU 1 108488604 108488604 single base substitution G A intron_variant BRCA-EU 1 108489450 108489450 single base substitution C A intron_variant BRCA-EU 1 108490058 108490058 single base substitution G C intron_variant BRCA-EU 1 108490219 108490219 single base substitution A G intron_variant BRCA-EU 1 108490437 108490437 single base substitution T C intron_variant BRCA-EU 1 108490546 108490546 single base substitution C T intron_variant BRCA-EU 1 108491166 108491166 single base substitution T C intron_variant BRCA-EU 1 108492076 108492076 single base substitution G A intron_variant BRCA-EU 1 108492841 108492848 deletion of <=200bp TAAACATC - intron_variant BRCA-EU 1 108494064 108494064 single base substitution G C intron_variant BRCA-EU 1 108494718 108494718 single base substitution T C intron_variant BRCA-EU 1 108496842 108496842 deletion of <=200bp A - intron_variant BRCA-EU 1 108498136 108498136 insertion of <=200bp - A intron_variant BRCA-EU 1 108498416 108498416 single base substitution C T intron_variant BRCA-EU 1 108499427 108499427 single base substitution A T intron_variant BRCA-EU 1 108500168 108500168 single base substitution G C intron_variant BRCA-EU 1 108507282 108507282 single base substitution C T intron_variant BRCA-EU 1 108507282 108507282 single base substitution C T upstream_gene_variant BRCA-EU 1 108508233 108508233 single base substitution C A upstream_gene_variant BRCA-EU 1 108508775 108508775 single base substitution T C upstream_gene_variant BRCA-EU 1 108510149 108510149 single base substitution G A upstream_gene_variant BRCA-EU 1 108510708 108510708 single base substitution G A upstream_gene_variant BRCA-EU 1 108510790 108510790 single base substitution C T upstream_gene_variant BRCA-EU 1 108511401 108511401 single base substitution C T upstream_gene_variant BRCA-EU 1 108512387 108512387 single base substitution C T upstream_gene_variant BRCA-EU 1 108512659 108512659 single base substitution G A upstream_gene_variant BRCA-FR 1 108123336 108123336 single base substitution G A intron_variant BRCA-FR 1 108127507 108127507 single base substitution C T intron_variant BRCA-FR 1 108129868 108129868 single base substitution T C intron_variant BRCA-FR 1 108132213 108132213 single base substitution G A intron_variant BRCA-FR 1 108135131 108135131 single base substitution C G downstream_gene_variant BRCA-FR 1 108135131 108135131 single base substitution C G intron_variant BRCA-FR 1 108136757 108136757 single base substitution C G downstream_gene_variant BRCA-FR 1 108136757 108136757 single base substitution C G intron_variant BRCA-FR 1 108139773 108139773 single base substitution T C intron_variant BRCA-FR 1 108143806 108143806 single base substitution G C downstream_gene_variant BRCA-FR 1 108143806 108143806 single base substitution G C intron_variant BRCA-FR 1 108148038 108148038 single base substitution C T downstream_gene_variant BRCA-FR 1 108148038 108148038 single base substitution C T intron_variant BRCA-FR 1 108153571 108153571 single base substitution T C intron_variant BRCA-FR 1 108161354 108161354 single base substitution G C intron_variant BRCA-FR 1 108161890 108161890 single base substitution G C intron_variant BRCA-FR 1 108178658 108178658 single base substitution A G intron_variant BRCA-FR 1 108178686 108178686 single base substitution T A intron_variant BRCA-FR 1 108180943 108180943 single base substitution C A intron_variant BRCA-FR 1 108187673 108187673 single base substitution C G intron_variant BRCA-FR 1 108191594 108191594 single base substitution G C intron_variant BRCA-FR 1 108203879 108203879 single base substitution G A intron_variant BRCA-FR 1 108223407 108223407 single base substitution T C intron_variant BRCA-FR 1 108223407 108223407 single base substitution T C upstream_gene_variant BRCA-FR 1 108230262 108230262 single base substitution C A intron_variant BRCA-FR 1 108230262 108230262 single base substitution C A upstream_gene_variant BRCA-FR 1 108231433 108231433 single base substitution T C intron_variant BRCA-FR 1 108231433 108231433 single base substitution T C upstream_gene_variant BRCA-FR 1 108233136 108233136 single base substitution G A intron_variant BRCA-FR 1 108233136 108233136 single base substitution G A upstream_gene_variant BRCA-FR 1 108239393 108239393 single base substitution G A intron_variant BRCA-FR 1 108244657 108244657 single base substitution C G intron_variant BRCA-FR 1 108248361 108248361 single base substitution C G intron_variant BRCA-FR 1 108253672 108253672 single base substitution A T intron_variant BRCA-FR 1 108256385 108256385 single base substitution G C intron_variant BRCA-FR 1 108265895 108265895 single base substitution C T intron_variant BRCA-FR 1 108271003 108271003 single base substitution G C intron_variant BRCA-FR 1 108276410 108276410 single base substitution G A intron_variant BRCA-FR 1 108280372 108280372 single base substitution G T intron_variant BRCA-FR 1 108280792 108280792 single base substitution G A intron_variant BRCA-FR 1 108286728 108286728 single base substitution T G intron_variant BRCA-FR 1 108308707 108308707 single base substitution C G downstream_gene_variant BRCA-FR 1 108308707 108308707 single base substitution C G intron_variant BRCA-FR 1 108319474 108319474 single base substitution C G intron_variant BRCA-FR 1 108319587 108319587 single base substitution C G intron_variant BRCA-FR 1 108342729 108342729 single base substitution T C intron_variant BRCA-FR 1 108350979 108350979 single base substitution T C intron_variant BRCA-FR 1 108351992 108351992 single base substitution C A intron_variant BRCA-FR 1 108372889 108372889 single base substitution A C intron_variant BRCA-FR 1 108376937 108376937 single base substitution C T intron_variant BRCA-FR 1 108380105 108380105 single base substitution C A intron_variant BRCA-FR 1 108381558 108381558 single base substitution G A intron_variant BRCA-FR 1 108387771 108387771 single base substitution G A intron_variant BRCA-FR 1 108392784 108392784 single base substitution G C intron_variant BRCA-FR 1 108394311 108394311 single base substitution C T intron_variant BRCA-FR 1 108402052 108402052 single base substitution A G intron_variant BRCA-FR 1 108407573 108407573 single base substitution G A intron_variant BRCA-FR 1 108422011 108422011 single base substitution T C intron_variant BRCA-FR 1 108431037 108431037 single base substitution C G intron_variant BRCA-FR 1 108434081 108434081 single base substitution G C intron_variant BRCA-FR 1 108438821 108438821 single base substitution G A intron_variant BRCA-FR 1 108441717 108441717 single base substitution G A intron_variant BRCA-FR 1 108449024 108449024 single base substitution C T intron_variant BRCA-FR 1 108470021 108470021 single base substitution C T intron_variant BRCA-FR 1 108474062 108474062 single base substitution T A intron_variant BRCA-FR 1 108490546 108490546 single base substitution C T intron_variant BRCA-FR 1 108507282 108507282 single base substitution C T intron_variant BRCA-FR 1 108507282 108507282 single base substitution C T upstream_gene_variant BRCA-FR 1 108512659 108512659 single base substitution G A upstream_gene_variant BRCA-KR 1 108231031 108231031 single base substitution G A 5_prime_UTR_variant BRCA-KR 1 108231031 108231031 single base substitution G A exon_variant BRCA-KR 1 108231031 108231031 single base substitution G A intron_variant BRCA-KR 1 108231031 108231031 single base substitution G A missense_variant S8L 23C>T BRCA-KR 1 108231031 108231031 single base substitution G A splice_region_variant BRCA-KR 1 108231031 108231031 single base substitution G A upstream_gene_variant BRCA-KR 1 108231144 108231144 single base substitution C T exon_variant BRCA-KR 1 108231144 108231144 single base substitution C T intron_variant BRCA-KR 1 108231144 108231144 single base substitution C T upstream_gene_variant BRCA-UK 1 108138911 108138911 single base substitution A C 3_prime_UTR_variant BRCA-UK 1 108138911 108138911 single base substitution A C downstream_gene_variant BRCA-UK 1 108138911 108138911 single base substitution A C exon_variant BRCA-UK 1 108138911 108138911 single base substitution A C stop_gained L162* 485T>G BRCA-UK 1 108138911 108138911 single base substitution A C stop_gained L198* 593T>G BRCA-UK 1 108138911 108138911 single base substitution A C stop_gained L758* 2273T>G BRCA-UK 1 108180791 108180791 single base substitution C G intron_variant BRCA-UK 1 108198525 108198525 single base substitution C T intron_variant BRCA-UK 1 108213415 108213415 single base substitution C T intron_variant BRCA-UK 1 108214690 108214690 single base substitution G C intron_variant BRCA-UK 1 108232044 108232044 single base substitution C G intron_variant BRCA-UK 1 108232044 108232044 single base substitution C G upstream_gene_variant BRCA-UK 1 108234081 108234081 single base substitution G A intron_variant BRCA-UK 1 108234081 108234081 single base substitution G A upstream_gene_variant BRCA-UK 1 108238141 108238141 single base substitution G C intron_variant BRCA-UK 1 108238605 108238605 single base substitution G C intron_variant BRCA-UK 1 108247641 108247641 single base substitution G A exon_variant BRCA-UK 1 108247641 108247641 single base substitution G A synonymous_variant D450D 1350C>T BRCA-UK 1 108247641 108247641 single base substitution G A synonymous_variant D509D 1527C>T BRCA-UK 1 108247641 108247641 single base substitution G A synonymous_variant D515D 1545C>T BRCA-UK 1 108247641 108247641 single base substitution G A synonymous_variant D66D 198C>T BRCA-UK 1 108271585 108271585 single base substitution C A intron_variant BRCA-UK 1 108272345 108272345 single base substitution G T intron_variant BRCA-UK 1 108275598 108275598 single base substitution C G intron_variant BRCA-UK 1 108289612 108289632 deletion of <=200bp CTGCTTCAGTCTTGCGAGTAG - intron_variant BRCA-UK 1 108312030 108312030 single base substitution A C downstream_gene_variant BRCA-UK 1 108312030 108312030 single base substitution A C intron_variant BRCA-UK 1 108327845 108327845 single base substitution G A intron_variant BRCA-UK 1 108328385 108328385 single base substitution G C intron_variant BRCA-UK 1 108328385 108328385 single base substitution G C upstream_gene_variant BRCA-UK 1 108338956 108338956 single base substitution C G intron_variant BRCA-UK 1 108349799 108349799 single base substitution G A intron_variant BRCA-UK 1 108381938 108381938 single base substitution G T intron_variant BRCA-UK 1 108396249 108396249 single base substitution A T intron_variant BRCA-UK 1 108412343 108412343 single base substitution G A intron_variant BRCA-UK 1 108412479 108412479 single base substitution C G intron_variant BRCA-UK 1 108439897 108439897 single base substitution G A intron_variant BRCA-UK 1 108469086 108469086 single base substitution C G intron_variant BRCA-UK 1 108485720 108485720 single base substitution G A intron_variant BRCA-UK 1 108500168 108500168 single base substitution G C intron_variant BRCA-US 1 108226109 108226109 single base substitution C A intron_variant BRCA-US 1 108226109 108226109 single base substitution C A splice_donor_variant BRCA-US 1 108292204 108292204 single base substitution T G exon_variant BRCA-US 1 108292204 108292204 single base substitution T G missense_variant L359F 1077A>C BRCA-US 1 108292204 108292204 single base substitution T G missense_variant L418F 1254A>C BRCA-US 1 108292204 108292204 single base substitution T G missense_variant L424F 1272A>C BRCA-US 1 108292204 108292204 single base substitution T G upstream_gene_variant BRCA-US 1 108293776 108293776 single base substitution G A exon_variant BRCA-US 1 108293776 108293776 single base substitution G A stop_gained R343* 1027C>T BRCA-US 1 108293776 108293776 single base substitution G A stop_gained R402* 1204C>T BRCA-US 1 108293776 108293776 single base substitution G A stop_gained R408* 1222C>T BRCA-US 1 108293776 108293776 single base substitution G A upstream_gene_variant BRCA-US 1 108299921 108299921 single base substitution C G exon_variant BRCA-US 1 108299921 108299921 single base substitution C G missense_variant E285Q 853G>C BRCA-US 1 108299921 108299921 single base substitution C G missense_variant E344Q 1030G>C BRCA-US 1 108299921 108299921 single base substitution C G missense_variant E350Q 1048G>C BRCA-US 1 108303488 108303488 single base substitution C G exon_variant BRCA-US 1 108303488 108303488 single base substitution C G missense_variant R247T 740G>C BRCA-US 1 108303488 108303488 single base substitution C G missense_variant R306T 917G>C BRCA-US 1 108303488 108303488 single base substitution C G missense_variant R312T 935G>C BRCA-US 1 108507315 108507317 deletion of <=200bp CTC - 5_prime_UTR_variant BRCA-US 1 108507315 108507317 deletion of <=200bp CTC - inframe_deletion E53 BRCA-US 1 108507315 108507317 deletion of <=200bp CTC - inframe_deletion E59 BRCA-US 1 108507315 108507317 deletion of <=200bp CTC - upstream_gene_variant BTCA-JP 1 108118927 108118927 single base substitution C T intron_variant BTCA-JP 1 108138937 108138937 single base substitution A G 3_prime_UTR_variant BTCA-JP 1 108138937 108138937 single base substitution A G exon_variant BTCA-JP 1 108138937 108138937 single base substitution A G synonymous_variant H153H 459T>C BTCA-JP 1 108138937 108138937 single base substitution A G synonymous_variant H189H 567T>C BTCA-JP 1 108138937 108138937 single base substitution A G synonymous_variant H749H 2247T>C BTCA-JP 1 108145754 108145754 single base substitution C G 3_prime_UTR_variant BTCA-JP 1 108145754 108145754 single base substitution C G exon_variant BTCA-JP 1 108145754 108145754 single base substitution C G missense_variant E123Q 367G>C BTCA-JP 1 108145754 108145754 single base substitution C G missense_variant E683Q 2047G>C BTCA-JP 1 108145754 108145754 single base substitution C G missense_variant E87Q 259G>C BTCA-JP 1 108247319 108247319 single base substitution T G intron_variant BTCA-JP 1 108247421 108247421 single base substitution G A intron_variant BTCA-JP 1 108292301 108292301 insertion of <=200bp - T intron_variant BTCA-JP 1 108292301 108292301 insertion of <=200bp - T upstream_gene_variant BTCA-JP 1 108298124 108298124 single base substitution T C exon_variant BTCA-JP 1 108298124 108298124 single base substitution T C synonymous_variant Q301Q 903A>G BTCA-JP 1 108298124 108298124 single base substitution T C synonymous_variant Q360Q 1080A>G BTCA-JP 1 108298124 108298124 single base substitution T C synonymous_variant Q366Q 1098A>G BTCA-JP 1 108298188 108298188 single base substitution C G intron_variant BTCA-JP 1 108299767 108299767 single base substitution G A intron_variant BTCA-JP 1 108313113 108313113 single base substitution G T downstream_gene_variant BTCA-JP 1 108313113 108313113 single base substitution G T intron_variant BTCA-JP 1 108319982 108319982 single base substitution G A intron_variant BTCA-JP 1 108417481 108417481 single base substitution C T intron_variant CESC-US 1 108115882 108115882 single base substitution C G 3_prime_UTR_variant CESC-US 1 108115882 108115882 single base substitution C G exon_variant CESC-US 1 108116734 108116734 single base substitution C G 3_prime_UTR_variant CESC-US 1 108116734 108116734 single base substitution C G exon_variant CESC-US 1 108116734 108116734 single base substitution C G missense_variant D217H 649G>C CESC-US 1 108116734 108116734 single base substitution C G missense_variant D253H 757G>C CESC-US 1 108116734 108116734 single base substitution C G missense_variant D813H 2437G>C CESC-US 1 108116734 108116734 single base substitution C G missense_variant D841H 2521G>C CESC-US 1 108292200 108292200 single base substitution C G exon_variant CESC-US 1 108292200 108292200 single base substitution C G missense_variant D361H 1081G>C CESC-US 1 108292200 108292200 single base substitution C G missense_variant D420H 1258G>C CESC-US 1 108292200 108292200 single base substitution C G missense_variant D426H 1276G>C CESC-US 1 108292200 108292200 single base substitution C G upstream_gene_variant CESC-US 1 108315446 108315446 single base substitution C T exon_variant CESC-US 1 108315446 108315446 single base substitution C T missense_variant E150K 448G>A CESC-US 1 108315446 108315446 single base substitution C T missense_variant E156K 466G>A CESC-US 1 108315446 108315446 single base substitution C T missense_variant E91K 271G>A CLLE-ES 1 108119249 108119249 single base substitution T C intron_variant CLLE-ES 1 108127982 108127982 single base substitution G T intron_variant CLLE-ES 1 108128835 108128835 single base substitution T C intron_variant CLLE-ES 1 108148960 108148960 single base substitution G A downstream_gene_variant CLLE-ES 1 108148960 108148960 single base substitution G A intron_variant CLLE-ES 1 108188717 108188717 single base substitution T A intron_variant CLLE-ES 1 108189366 108189366 single base substitution A T intron_variant CLLE-ES 1 108190102 108190102 single base substitution A C intron_variant CLLE-ES 1 108210084 108210084 single base substitution T A downstream_gene_variant CLLE-ES 1 108210084 108210084 single base substitution T A intron_variant CLLE-ES 1 108220334 108220334 single base substitution A G intron_variant CLLE-ES 1 108220334 108220334 single base substitution A G upstream_gene_variant CLLE-ES 1 108231574 108231574 single base substitution T A intron_variant CLLE-ES 1 108231574 108231574 single base substitution T A upstream_gene_variant CLLE-ES 1 108245809 108245809 single base substitution A G intron_variant CLLE-ES 1 108272291 108272291 single base substitution C G intron_variant CLLE-ES 1 108355406 108355406 single base substitution G A intron_variant CLLE-ES 1 108365924 108365924 single base substitution G C intron_variant CLLE-ES 1 108365924 108365924 single base substitution G C upstream_gene_variant CLLE-ES 1 108376210 108376210 single base substitution A G intron_variant CLLE-ES 1 108379184 108379187 deletion of <=200bp AAAT - intron_variant CLLE-ES 1 108382631 108382631 single base substitution C T intron_variant CLLE-ES 1 108400696 108400696 single base substitution T C intron_variant CLLE-ES 1 108413121 108413121 single base substitution C A intron_variant CLLE-ES 1 108418287 108418287 single base substitution T C intron_variant CLLE-ES 1 108418802 108418802 single base substitution A G intron_variant CLLE-ES 1 108439212 108439212 single base substitution T C intron_variant CLLE-ES 1 108446907 108446907 single base substitution T C intron_variant CLLE-ES 1 108476499 108476499 single base substitution A G intron_variant CLLE-ES 1 108478376 108478376 single base substitution G A intron_variant COAD-US 1 108160195 108160195 single base substitution G T 3_prime_UTR_variant COAD-US 1 108160195 108160195 single base substitution G T downstream_gene_variant COAD-US 1 108160195 108160195 single base substitution G T exon_variant COAD-US 1 108160195 108160195 single base substitution G T stop_gained C62* 186C>A COAD-US 1 108160195 108160195 single base substitution G T stop_gained C658* 1974C>A COAD-US 1 108160195 108160195 single base substitution G T stop_gained C98* 294C>A COAD-US 1 108247245 108247245 single base substitution A C exon_variant COAD-US 1 108247245 108247245 single base substitution A C missense_variant C479W 1437T>G COAD-US 1 108247245 108247245 single base substitution A C missense_variant C538W 1614T>G COAD-US 1 108247245 108247245 single base substitution A C missense_variant C544W 1632T>G COAD-US 1 108247245 108247245 single base substitution A C missense_variant C95W 285T>G COAD-US 1 108247686 108247686 deletion of <=200bp A - splice_region_variant COAD-US 1 108291628 108291628 single base substitution A C exon_variant COAD-US 1 108291628 108291628 single base substitution A C missense_variant D39E 117T>G COAD-US 1 108291628 108291628 single base substitution A C missense_variant D423E 1269T>G COAD-US 1 108291628 108291628 single base substitution A C missense_variant D482E 1446T>G COAD-US 1 108291628 108291628 single base substitution A C missense_variant D488E 1464T>G COAD-US 1 108291645 108291645 single base substitution A T exon_variant COAD-US 1 108291645 108291645 single base substitution A T missense_variant Y34N 100T>A COAD-US 1 108291645 108291645 single base substitution A T missense_variant Y418N 1252T>A COAD-US 1 108291645 108291645 single base substitution A T missense_variant Y477N 1429T>A COAD-US 1 108291645 108291645 single base substitution A T missense_variant Y483N 1447T>A COAD-US 1 108313316 108313316 single base substitution A G exon_variant COAD-US 1 108313316 108313316 single base substitution A G missense_variant L132P 395T>C COAD-US 1 108313316 108313316 single base substitution A G missense_variant L191P 572T>C COAD-US 1 108313316 108313316 single base substitution A G missense_variant L197P 590T>C COAD-US 1 108322087 108322087 single base substitution G A exon_variant COAD-US 1 108322087 108322087 single base substitution G A stop_gained R111* 331C>T COAD-US 1 108322087 108322087 single base substitution G A stop_gained R117* 349C>T COAD-US 1 108322087 108322087 single base substitution G A stop_gained R52* 154C>T COAD-US 1 108417523 108417523 single base substitution C A missense_variant K101N 303G>T COAD-US 1 108417523 108417523 single base substitution C A missense_variant K107N 321G>T COAD-US 1 108417523 108417523 single base substitution C A missense_variant K42N 126G>T COAD-US 1 108417523 108417523 single base substitution C A splice_region_variant COAD-US 1 108507484 108507484 single base substitution G A missense_variant P3L 8C>T COAD-US 1 108507484 108507484 single base substitution G A upstream_gene_variant COCA-CN 1 108138784 108138784 single base substitution C T downstream_gene_variant COCA-CN 1 108138784 108138784 single base substitution C T intron_variant COCA-CN 1 108152403 108152403 single base substitution G T downstream_gene_variant COCA-CN 1 108152403 108152403 single base substitution G T intron_variant COCA-CN 1 108247294 108247294 single base substitution T G intron_variant COCA-CN 1 108247618 108247618 single base substitution C T exon_variant COCA-CN 1 108247618 108247618 single base substitution C T missense_variant R458Q 1373G>A COCA-CN 1 108247618 108247618 single base substitution C T missense_variant R517Q 1550G>A COCA-CN 1 108247618 108247618 single base substitution C T missense_variant R523Q 1568G>A COCA-CN 1 108247618 108247618 single base substitution C T missense_variant R74Q 221G>A COCA-CN 1 108292281 108292281 single base substitution G T intron_variant COCA-CN 1 108292281 108292281 single base substitution G T upstream_gene_variant COCA-CN 1 108299777 108299777 single base substitution G A intron_variant COCA-CN 1 108299805 108299805 single base substitution G A intron_variant COCA-CN 1 108299807 108299807 single base substitution G A intron_variant COCA-CN 1 108303465 108303465 single base substitution G T exon_variant COCA-CN 1 108303465 108303465 single base substitution G T missense_variant L255I 763C>A COCA-CN 1 108303465 108303465 single base substitution G T missense_variant L314I 940C>A COCA-CN 1 108303465 108303465 single base substitution G T missense_variant L320I 958C>A COCA-CN 1 108307642 108307642 single base substitution C T downstream_gene_variant COCA-CN 1 108307642 108307642 single base substitution C T intron_variant COCA-CN 1 108307818 108307818 single base substitution G T downstream_gene_variant COCA-CN 1 108307818 108307818 single base substitution G T intron_variant COCA-CN 1 108313171 108313171 single base substitution T C downstream_gene_variant COCA-CN 1 108313171 108313171 single base substitution T C intron_variant COCA-CN 1 108315256 108315256 single base substitution G C intron_variant COCA-CN 1 108322116 108322116 single base substitution T G splice_acceptor_variant COCA-CN 1 108507222 108507222 single base substitution G T intron_variant COCA-CN 1 108507222 108507222 single base substitution G T upstream_gene_variant COCA-CN 1 108507236 108507236 single base substitution G T intron_variant COCA-CN 1 108507236 108507236 single base substitution G T upstream_gene_variant COCA-CN 1 108507552 108507552 single base substitution C T 5_prime_UTR_variant COCA-CN 1 108507552 108507552 single base substitution C T upstream_gene_variant EOPC-DE 1 108217398 108217398 single base substitution G T intron_variant EOPC-DE 1 108217398 108217398 single base substitution G T upstream_gene_variant EOPC-DE 1 108300402 108300402 single base substitution T G intron_variant EOPC-DE 1 108367266 108367266 single base substitution G T intron_variant EOPC-DE 1 108367266 108367266 single base substitution G T upstream_gene_variant EOPC-DE 1 108430662 108430662 single base substitution C A intron_variant EOPC-DE 1 108456068 108456068 single base substitution C T intron_variant ESAD-UK 1 108108983 108108983 single base substitution T A downstream_gene_variant ESAD-UK 1 108109105 108109105 single base substitution G A downstream_gene_variant ESAD-UK 1 108109328 108109328 single base substitution A C downstream_gene_variant ESAD-UK 1 108109609 108109609 single base substitution C T downstream_gene_variant ESAD-UK 1 108109768 108109768 single base substitution T C downstream_gene_variant ESAD-UK 1 108110354 108110354 single base substitution T G downstream_gene_variant ESAD-UK 1 108110737 108110737 single base substitution G A downstream_gene_variant ESAD-UK 1 108110943 108110943 single base substitution A C downstream_gene_variant ESAD-UK 1 108111073 108111073 single base substitution T C downstream_gene_variant ESAD-UK 1 108111309 108111309 single base substitution C A downstream_gene_variant ESAD-UK 1 108111310 108111310 single base substitution T C downstream_gene_variant ESAD-UK 1 108111379 108111379 single base substitution G A downstream_gene_variant ESAD-UK 1 108111396 108111396 single base substitution A G downstream_gene_variant ESAD-UK 1 108111450 108111450 single base substitution G A downstream_gene_variant ESAD-UK 1 108111676 108111676 single base substitution A G downstream_gene_variant ESAD-UK 1 108111795 108111795 single base substitution C A downstream_gene_variant ESAD-UK 1 108112020 108112020 single base substitution T G downstream_gene_variant ESAD-UK 1 108112132 108112132 single base substitution A G downstream_gene_variant ESAD-UK 1 108112289 108112289 single base substitution C T downstream_gene_variant ESAD-UK 1 108112560 108112560 single base substitution A C downstream_gene_variant ESAD-UK 1 108113108 108113108 single base substitution A G downstream_gene_variant ESAD-UK 1 108113336 108113336 single base substitution C G downstream_gene_variant ESAD-UK 1 108113395 108113395 single base substitution G A downstream_gene_variant ESAD-UK 1 108113580 108113580 single base substitution C T downstream_gene_variant ESAD-UK 1 108113610 108113610 single base substitution T C downstream_gene_variant ESAD-UK 1 108114210 108114210 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 108114210 108114210 single base substitution C T downstream_gene_variant ESAD-UK 1 108114606 108114606 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 108114606 108114606 single base substitution T C downstream_gene_variant ESAD-UK 1 108116591 108116591 single base substitution C G intron_variant ESAD-UK 1 108117185 108117185 single base substitution C G intron_variant ESAD-UK 1 108117202 108117202 single base substitution A T intron_variant ESAD-UK 1 108118331 108118331 single base substitution T C intron_variant ESAD-UK 1 108118331 108118331 single base substitution T G intron_variant ESAD-UK 1 108118332 108118332 single base substitution T G intron_variant ESAD-UK 1 108118333 108118333 single base substitution T C intron_variant ESAD-UK 1 108119065 108119065 single base substitution T C exon_variant ESAD-UK 1 108119065 108119065 single base substitution T C intron_variant ESAD-UK 1 108119065 108119065 single base substitution T C missense_variant T795A 2383A>G ESAD-UK 1 108119547 108119547 single base substitution T G intron_variant ESAD-UK 1 108120302 108120302 single base substitution G C intron_variant ESAD-UK 1 108120540 108120540 single base substitution A C intron_variant ESAD-UK 1 108120831 108120831 single base substitution T C intron_variant ESAD-UK 1 108121241 108121241 deletion of <=200bp T - intron_variant ESAD-UK 1 108121403 108121403 single base substitution C T intron_variant ESAD-UK 1 108121879 108121879 single base substitution C G intron_variant ESAD-UK 1 108122042 108122042 single base substitution A C intron_variant ESAD-UK 1 108122413 108122413 single base substitution C G intron_variant ESAD-UK 1 108122575 108122575 single base substitution A C intron_variant ESAD-UK 1 108122840 108122840 single base substitution G A intron_variant ESAD-UK 1 108124610 108124610 single base substitution C T intron_variant ESAD-UK 1 108124690 108124690 single base substitution G T intron_variant ESAD-UK 1 108125039 108125039 single base substitution T A intron_variant ESAD-UK 1 108125418 108125418 single base substitution T G intron_variant ESAD-UK 1 108127870 108127870 single base substitution A G intron_variant ESAD-UK 1 108127990 108127990 single base substitution T A intron_variant ESAD-UK 1 108128096 108128096 single base substitution A C intron_variant ESAD-UK 1 108129044 108129044 insertion of <=200bp - GAG intron_variant ESAD-UK 1 108129488 108129488 single base substitution A C intron_variant ESAD-UK 1 108129675 108129675 single base substitution A C intron_variant ESAD-UK 1 108129703 108129703 single base substitution T C intron_variant ESAD-UK 1 108130252 108130252 single base substitution G A intron_variant ESAD-UK 1 108130463 108130463 single base substitution T G intron_variant ESAD-UK 1 108131508 108131508 single base substitution G A intron_variant ESAD-UK 1 108131630 108131630 single base substitution T G intron_variant ESAD-UK 1 108131708 108131708 single base substitution T C intron_variant ESAD-UK 1 108132613 108132613 single base substitution A C intron_variant ESAD-UK 1 108132758 108132758 single base substitution T G intron_variant ESAD-UK 1 108132799 108132799 single base substitution A G intron_variant ESAD-UK 1 108132933 108132933 single base substitution T C intron_variant ESAD-UK 1 108132945 108132945 single base substitution T C intron_variant ESAD-UK 1 108133410 108133410 single base substitution C A intron_variant ESAD-UK 1 108135373 108135373 single base substitution A C downstream_gene_variant ESAD-UK 1 108135373 108135373 single base substitution A C intron_variant ESAD-UK 1 108136261 108136261 single base substitution T G downstream_gene_variant ESAD-UK 1 108136261 108136261 single base substitution T G intron_variant ESAD-UK 1 108136382 108136382 single base substitution A T downstream_gene_variant ESAD-UK 1 108136382 108136382 single base substitution A T intron_variant ESAD-UK 1 108136523 108136523 single base substitution A C downstream_gene_variant ESAD-UK 1 108136523 108136523 single base substitution A C intron_variant ESAD-UK 1 108137305 108137305 single base substitution A G downstream_gene_variant ESAD-UK 1 108137305 108137305 single base substitution A G intron_variant ESAD-UK 1 108137323 108137323 single base substitution C T downstream_gene_variant ESAD-UK 1 108137323 108137323 single base substitution C T intron_variant ESAD-UK 1 108138729 108138729 single base substitution C T downstream_gene_variant ESAD-UK 1 108138729 108138729 single base substitution C T intron_variant ESAD-UK 1 108138730 108138730 single base substitution G A downstream_gene_variant ESAD-UK 1 108138730 108138730 single base substitution G A intron_variant ESAD-UK 1 108138913 108138913 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 108138913 108138913 single base substitution G A downstream_gene_variant ESAD-UK 1 108138913 108138913 single base substitution G A exon_variant ESAD-UK 1 108138913 108138913 single base substitution G A synonymous_variant T161T 483C>T ESAD-UK 1 108138913 108138913 single base substitution G A synonymous_variant T197T 591C>T ESAD-UK 1 108138913 108138913 single base substitution G A synonymous_variant T757T 2271C>T ESAD-UK 1 108139414 108139414 single base substitution C A intron_variant ESAD-UK 1 108139828 108139828 single base substitution G A intron_variant ESAD-UK 1 108140802 108140802 single base substitution C G downstream_gene_variant ESAD-UK 1 108140802 108140802 single base substitution C G intron_variant ESAD-UK 1 108141387 108141387 single base substitution T A downstream_gene_variant ESAD-UK 1 108141387 108141387 single base substitution T A intron_variant ESAD-UK 1 108142673 108142673 single base substitution A T downstream_gene_variant ESAD-UK 1 108142673 108142673 single base substitution A T intron_variant ESAD-UK 1 108143626 108143626 single base substitution A G downstream_gene_variant ESAD-UK 1 108143626 108143626 single base substitution A G intron_variant ESAD-UK 1 108144399 108144399 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 108144399 108144399 deletion of <=200bp T - intron_variant ESAD-UK 1 108144506 108144506 single base substitution A C downstream_gene_variant ESAD-UK 1 108144506 108144506 single base substitution A C intron_variant ESAD-UK 1 108144701 108144701 single base substitution C A downstream_gene_variant ESAD-UK 1 108144701 108144701 single base substitution C A intron_variant ESAD-UK 1 108145693 108145693 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 108145693 108145693 single base substitution G T downstream_gene_variant ESAD-UK 1 108145693 108145693 single base substitution G T exon_variant ESAD-UK 1 108145693 108145693 single base substitution G T stop_gained S107* 320C>A ESAD-UK 1 108145693 108145693 single base substitution G T stop_gained S143* 428C>A ESAD-UK 1 108145693 108145693 single base substitution G T stop_gained S703* 2108C>A ESAD-UK 1 108145800 108145800 single base substitution G C intron_variant ESAD-UK 1 108146266 108146266 single base substitution G A intron_variant ESAD-UK 1 108146426 108146426 single base substitution G A intron_variant ESAD-UK 1 108146576 108146576 single base substitution T C intron_variant ESAD-UK 1 108146765 108146765 single base substitution T G intron_variant ESAD-UK 1 108146933 108146933 single base substitution A C intron_variant ESAD-UK 1 108147693 108147693 single base substitution A C downstream_gene_variant ESAD-UK 1 108147693 108147693 single base substitution A C intron_variant ESAD-UK 1 108147850 108147850 single base substitution A C downstream_gene_variant ESAD-UK 1 108147850 108147850 single base substitution A C intron_variant ESAD-UK 1 108147973 108147973 single base substitution G A downstream_gene_variant ESAD-UK 1 108147973 108147973 single base substitution G A intron_variant ESAD-UK 1 108148164 108148164 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 108148164 108148164 deletion of <=200bp A - intron_variant ESAD-UK 1 108148205 108148205 single base substitution C A downstream_gene_variant ESAD-UK 1 108148205 108148205 single base substitution C A intron_variant ESAD-UK 1 108149753 108149753 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 108149753 108149753 deletion of <=200bp T - intron_variant ESAD-UK 1 108149787 108149787 single base substitution G C downstream_gene_variant ESAD-UK 1 108149787 108149787 single base substitution G C intron_variant ESAD-UK 1 108150743 108150743 single base substitution C A downstream_gene_variant ESAD-UK 1 108150743 108150743 single base substitution C A intron_variant ESAD-UK 1 108151298 108151298 single base substitution G A downstream_gene_variant ESAD-UK 1 108151298 108151298 single base substitution G A intron_variant ESAD-UK 1 108151472 108151472 single base substitution T G downstream_gene_variant ESAD-UK 1 108151472 108151472 single base substitution T G intron_variant ESAD-UK 1 108152104 108152104 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 108152104 108152104 single base substitution T C downstream_gene_variant ESAD-UK 1 108152104 108152104 single base substitution T C intron_variant ESAD-UK 1 108152137 108152137 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 108152137 108152137 single base substitution A T downstream_gene_variant ESAD-UK 1 108152137 108152137 single base substitution A T intron_variant ESAD-UK 1 108153602 108153602 single base substitution G A intron_variant ESAD-UK 1 108153715 108153715 insertion of <=200bp - A intron_variant ESAD-UK 1 108154551 108154551 single base substitution C T intron_variant ESAD-UK 1 108154568 108154568 single base substitution T G intron_variant ESAD-UK 1 108154655 108154655 single base substitution T C intron_variant ESAD-UK 1 108154688 108154688 single base substitution T G intron_variant ESAD-UK 1 108154751 108154751 insertion of <=200bp - TA intron_variant ESAD-UK 1 108154766 108154767 deletion of <=200bp AC - intron_variant ESAD-UK 1 108154901 108154901 single base substitution A C intron_variant ESAD-UK 1 108155880 108155880 single base substitution A C downstream_gene_variant ESAD-UK 1 108155880 108155880 single base substitution A C intron_variant ESAD-UK 1 108155911 108155911 single base substitution C G downstream_gene_variant ESAD-UK 1 108155911 108155911 single base substitution C G intron_variant ESAD-UK 1 108156054 108156054 single base substitution T C downstream_gene_variant ESAD-UK 1 108156054 108156054 single base substitution T C intron_variant ESAD-UK 1 108156140 108156140 single base substitution C A downstream_gene_variant ESAD-UK 1 108156140 108156140 single base substitution C A intron_variant ESAD-UK 1 108156392 108156392 single base substitution C A downstream_gene_variant ESAD-UK 1 108156392 108156392 single base substitution C A intron_variant ESAD-UK 1 108156501 108156501 single base substitution C T downstream_gene_variant ESAD-UK 1 108156501 108156501 single base substitution C T intron_variant ESAD-UK 1 108157134 108157134 single base substitution A C downstream_gene_variant ESAD-UK 1 108157134 108157134 single base substitution A C intron_variant ESAD-UK 1 108157135 108157135 single base substitution A C downstream_gene_variant ESAD-UK 1 108157135 108157135 single base substitution A C intron_variant ESAD-UK 1 108157194 108157194 single base substitution A C downstream_gene_variant ESAD-UK 1 108157194 108157194 single base substitution A C intron_variant ESAD-UK 1 108157446 108157446 single base substitution T G downstream_gene_variant ESAD-UK 1 108157446 108157446 single base substitution T G intron_variant ESAD-UK 1 108158458 108158458 single base substitution A C downstream_gene_variant ESAD-UK 1 108158458 108158458 single base substitution A C intron_variant ESAD-UK 1 108158680 108158680 single base substitution T G downstream_gene_variant ESAD-UK 1 108158680 108158680 single base substitution T G intron_variant ESAD-UK 1 108159462 108159462 single base substitution C T downstream_gene_variant ESAD-UK 1 108159462 108159462 single base substitution C T intron_variant ESAD-UK 1 108159518 108159518 single base substitution A C downstream_gene_variant ESAD-UK 1 108159518 108159518 single base substitution A C intron_variant ESAD-UK 1 108160215 108160215 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 108160215 108160215 single base substitution T G exon_variant ESAD-UK 1 108160215 108160215 single base substitution T G missense_variant S179R 535A>C ESAD-UK 1 108160215 108160215 single base substitution T G missense_variant S56R 166A>C ESAD-UK 1 108160215 108160215 single base substitution T G missense_variant S652R 1954A>C ESAD-UK 1 108160215 108160215 single base substitution T G missense_variant S92R 274A>C ESAD-UK 1 108160550 108160550 single base substitution G A intron_variant ESAD-UK 1 108160603 108160603 single base substitution G A intron_variant ESAD-UK 1 108160652 108160652 single base substitution A G intron_variant ESAD-UK 1 108160734 108160734 single base substitution G A intron_variant ESAD-UK 1 108161043 108161043 single base substitution A C intron_variant ESAD-UK 1 108161108 108161108 single base substitution A C intron_variant ESAD-UK 1 108161123 108161123 single base substitution G T intron_variant ESAD-UK 1 108161554 108161554 single base substitution T C intron_variant ESAD-UK 1 108161593 108161593 single base substitution T G intron_variant ESAD-UK 1 108162255 108162255 single base substitution A C intron_variant ESAD-UK 1 108162740 108162740 single base substitution A G intron_variant ESAD-UK 1 108163398 108163398 single base substitution A G intron_variant ESAD-UK 1 108163768 108163768 single base substitution A C intron_variant ESAD-UK 1 108163796 108163796 single base substitution A G intron_variant ESAD-UK 1 108164640 108164640 single base substitution T G intron_variant ESAD-UK 1 108164729 108164729 deletion of <=200bp T - intron_variant ESAD-UK 1 108165437 108165437 single base substitution A C intron_variant ESAD-UK 1 108165580 108165580 single base substitution A C intron_variant ESAD-UK 1 108165708 108165708 single base substitution C T intron_variant ESAD-UK 1 108165711 108165711 single base substitution C T intron_variant ESAD-UK 1 108166379 108166379 single base substitution G T intron_variant ESAD-UK 1 108166504 108166504 single base substitution T C intron_variant ESAD-UK 1 108166508 108166508 deletion of <=200bp G - intron_variant ESAD-UK 1 108167530 108167530 single base substitution C T intron_variant ESAD-UK 1 108167560 108167560 single base substitution T G intron_variant ESAD-UK 1 108167811 108167811 single base substitution G A intron_variant ESAD-UK 1 108168576 108168576 single base substitution A C intron_variant ESAD-UK 1 108169389 108169389 single base substitution A C intron_variant ESAD-UK 1 108170377 108170377 single base substitution A C intron_variant ESAD-UK 1 108171021 108171021 single base substitution C A intron_variant ESAD-UK 1 108171076 108171076 single base substitution A C intron_variant ESAD-UK 1 108171262 108171262 single base substitution T G intron_variant ESAD-UK 1 108171270 108171270 single base substitution A C intron_variant ESAD-UK 1 108171643 108171643 single base substitution A C intron_variant ESAD-UK 1 108171673 108171673 single base substitution A T intron_variant ESAD-UK 1 108171718 108171718 single base substitution A C intron_variant ESAD-UK 1 108171765 108171765 single base substitution A C intron_variant ESAD-UK 1 108172533 108172533 single base substitution A T intron_variant ESAD-UK 1 108172765 108172765 single base substitution T G intron_variant ESAD-UK 1 108173354 108173354 single base substitution T C intron_variant ESAD-UK 1 108173560 108173560 single base substitution G A intron_variant ESAD-UK 1 108173593 108173593 single base substitution G A intron_variant ESAD-UK 1 108175005 108175005 single base substitution T C intron_variant ESAD-UK 1 108175306 108175306 single base substitution A G intron_variant ESAD-UK 1 108175515 108175515 single base substitution C G intron_variant ESAD-UK 1 108175573 108175573 single base substitution A G intron_variant ESAD-UK 1 108175686 108175686 single base substitution C G intron_variant ESAD-UK 1 108175779 108175779 single base substitution A T intron_variant ESAD-UK 1 108177247 108177247 single base substitution A T intron_variant ESAD-UK 1 108178379 108178379 single base substitution A G intron_variant ESAD-UK 1 108180001 108180001 single base substitution T G intron_variant ESAD-UK 1 108180136 108180136 single base substitution T G intron_variant ESAD-UK 1 108180341 108180341 single base substitution T G intron_variant ESAD-UK 1 108180551 108180551 single base substitution C G intron_variant ESAD-UK 1 108180640 108180640 single base substitution G T intron_variant ESAD-UK 1 108180910 108180910 single base substitution C A intron_variant ESAD-UK 1 108181301 108181301 single base substitution C T intron_variant ESAD-UK 1 108181363 108181363 single base substitution A G intron_variant ESAD-UK 1 108181392 108181392 single base substitution T C intron_variant ESAD-UK 1 108181444 108181444 single base substitution A G intron_variant ESAD-UK 1 108181866 108181866 single base substitution G A intron_variant ESAD-UK 1 108182313 108182313 single base substitution C T intron_variant ESAD-UK 1 108183007 108183007 single base substitution A C intron_variant ESAD-UK 1 108183090 108183090 single base substitution G A intron_variant ESAD-UK 1 108183402 108183402 single base substitution T G intron_variant ESAD-UK 1 108183560 108183560 single base substitution A G intron_variant ESAD-UK 1 108184421 108184421 single base substitution C T intron_variant ESAD-UK 1 108184457 108184457 single base substitution T G intron_variant ESAD-UK 1 108185275 108185275 single base substitution A C exon_variant ESAD-UK 1 108185275 108185275 single base substitution A C missense_variant L154R 461T>G ESAD-UK 1 108185275 108185275 single base substitution A C missense_variant L31R 92T>G ESAD-UK 1 108185275 108185275 single base substitution A C missense_variant L627R 1880T>G ESAD-UK 1 108185275 108185275 single base substitution A C missense_variant L67R 200T>G ESAD-UK 1 108185381 108185381 single base substitution A G splice_region_variant ESAD-UK 1 108186126 108186126 single base substitution A T intron_variant ESAD-UK 1 108186613 108186613 single base substitution T G intron_variant ESAD-UK 1 108186750 108186750 single base substitution A C intron_variant ESAD-UK 1 108187177 108187177 single base substitution T G intron_variant ESAD-UK 1 108187228 108187228 single base substitution G A intron_variant ESAD-UK 1 108187260 108187260 single base substitution T G intron_variant ESAD-UK 1 108187291 108187291 single base substitution T G intron_variant ESAD-UK 1 108188170 108188170 single base substitution C G intron_variant ESAD-UK 1 108188178 108188178 single base substitution C A intron_variant ESAD-UK 1 108188483 108188483 single base substitution T G intron_variant ESAD-UK 1 108188804 108188804 single base substitution A C intron_variant ESAD-UK 1 108188853 108188853 deletion of <=200bp A - intron_variant ESAD-UK 1 108188864 108188864 single base substitution A G intron_variant ESAD-UK 1 108190214 108190214 single base substitution A C intron_variant ESAD-UK 1 108190227 108190227 single base substitution T C intron_variant ESAD-UK 1 108190375 108190375 single base substitution C T intron_variant ESAD-UK 1 108190871 108190871 single base substitution A G intron_variant ESAD-UK 1 108191026 108191026 single base substitution A C intron_variant ESAD-UK 1 108191057 108191057 single base substitution A C intron_variant ESAD-UK 1 108191069 108191069 single base substitution T C intron_variant ESAD-UK 1 108193085 108193085 deletion of <=200bp C - intron_variant ESAD-UK 1 108193668 108193668 single base substitution C A intron_variant ESAD-UK 1 108193955 108193955 single base substitution A G intron_variant ESAD-UK 1 108194598 108194598 single base substitution G A intron_variant ESAD-UK 1 108195013 108195013 single base substitution C T intron_variant ESAD-UK 1 108195506 108195506 single base substitution A T intron_variant ESAD-UK 1 108195622 108195622 single base substitution T C intron_variant ESAD-UK 1 108196190 108196190 single base substitution A C intron_variant ESAD-UK 1 108196792 108196792 single base substitution A T intron_variant ESAD-UK 1 108197519 108197519 single base substitution A T intron_variant ESAD-UK 1 108198118 108198118 single base substitution T C intron_variant ESAD-UK 1 108198146 108198146 single base substitution A C intron_variant ESAD-UK 1 108199183 108199183 single base substitution A C intron_variant ESAD-UK 1 108200168 108200168 single base substitution G A intron_variant ESAD-UK 1 108200333 108200333 single base substitution A C intron_variant ESAD-UK 1 108202178 108202178 single base substitution T C intron_variant ESAD-UK 1 108203005 108203005 single base substitution G T intron_variant ESAD-UK 1 108203221 108203221 single base substitution A G intron_variant ESAD-UK 1 108203410 108203410 single base substitution T G intron_variant ESAD-UK 1 108203843 108203843 single base substitution T C intron_variant ESAD-UK 1 108204450 108204450 single base substitution A C intron_variant ESAD-UK 1 108205080 108205080 single base substitution A C intron_variant ESAD-UK 1 108205082 108205082 single base substitution T G intron_variant ESAD-UK 1 108206070 108206070 single base substitution T G intron_variant ESAD-UK 1 108206185 108206185 single base substitution C A intron_variant ESAD-UK 1 108206190 108206190 single base substitution T G intron_variant ESAD-UK 1 108206387 108206387 single base substitution T C intron_variant ESAD-UK 1 108206553 108206553 single base substitution G A downstream_gene_variant ESAD-UK 1 108206553 108206553 single base substitution G A intron_variant ESAD-UK 1 108207694 108207694 single base substitution A C downstream_gene_variant ESAD-UK 1 108207694 108207694 single base substitution A C intron_variant ESAD-UK 1 108208875 108208875 single base substitution G C downstream_gene_variant ESAD-UK 1 108208875 108208875 single base substitution G C intron_variant ESAD-UK 1 108209052 108209052 single base substitution G T downstream_gene_variant ESAD-UK 1 108209052 108209052 single base substitution G T intron_variant ESAD-UK 1 108209140 108209140 single base substitution G A downstream_gene_variant ESAD-UK 1 108209140 108209140 single base substitution G A intron_variant ESAD-UK 1 108209494 108209494 single base substitution A G downstream_gene_variant ESAD-UK 1 108209494 108209494 single base substitution A G intron_variant ESAD-UK 1 108209870 108209870 single base substitution A C downstream_gene_variant ESAD-UK 1 108209870 108209870 single base substitution A C intron_variant ESAD-UK 1 108209959 108209959 single base substitution A G downstream_gene_variant ESAD-UK 1 108209959 108209959 single base substitution A G intron_variant ESAD-UK 1 108210044 108210044 single base substitution A C downstream_gene_variant ESAD-UK 1 108210044 108210044 single base substitution A C intron_variant ESAD-UK 1 108211283 108211283 single base substitution A C downstream_gene_variant ESAD-UK 1 108211283 108211283 single base substitution A C intron_variant ESAD-UK 1 108211630 108211630 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 108211630 108211630 single base substitution G A exon_variant ESAD-UK 1 108211630 108211630 single base substitution G A intron_variant ESAD-UK 1 108212431 108212431 insertion of <=200bp - G intron_variant ESAD-UK 1 108212440 108212440 single base substitution G A intron_variant ESAD-UK 1 108212792 108212792 single base substitution G C intron_variant ESAD-UK 1 108213203 108213203 single base substitution G C intron_variant ESAD-UK 1 108213383 108213383 single base substitution T C intron_variant ESAD-UK 1 108213387 108213387 single base substitution A G intron_variant ESAD-UK 1 108213760 108213760 single base substitution C T intron_variant ESAD-UK 1 108214179 108214179 single base substitution T G intron_variant ESAD-UK 1 108214644 108214644 single base substitution C T intron_variant ESAD-UK 1 108214841 108214841 single base substitution A G exon_variant ESAD-UK 1 108214841 108214841 single base substitution A G intron_variant ESAD-UK 1 108216072 108216072 single base substitution T C intron_variant ESAD-UK 1 108216311 108216311 single base substitution G T intron_variant ESAD-UK 1 108216311 108216311 single base substitution G T upstream_gene_variant ESAD-UK 1 108216446 108216446 single base substitution A G intron_variant ESAD-UK 1 108216446 108216446 single base substitution A G upstream_gene_variant ESAD-UK 1 108217913 108217913 single base substitution T A intron_variant ESAD-UK 1 108217913 108217913 single base substitution T A upstream_gene_variant ESAD-UK 1 108218523 108218523 single base substitution C T intron_variant ESAD-UK 1 108218523 108218523 single base substitution C T upstream_gene_variant ESAD-UK 1 108221120 108221120 single base substitution A T intron_variant ESAD-UK 1 108221120 108221120 single base substitution A T upstream_gene_variant ESAD-UK 1 108221249 108221249 single base substitution G A intron_variant ESAD-UK 1 108221249 108221249 single base substitution G A upstream_gene_variant ESAD-UK 1 108221523 108221523 single base substitution G A intron_variant ESAD-UK 1 108221523 108221523 single base substitution G A upstream_gene_variant ESAD-UK 1 108222656 108222656 single base substitution T C intron_variant ESAD-UK 1 108222656 108222656 single base substitution T C upstream_gene_variant ESAD-UK 1 108222946 108222946 single base substitution A G intron_variant ESAD-UK 1 108222946 108222946 single base substitution A G upstream_gene_variant ESAD-UK 1 108224096 108224096 single base substitution A C intron_variant ESAD-UK 1 108224096 108224096 single base substitution A C upstream_gene_variant ESAD-UK 1 108224371 108224371 single base substitution G A intron_variant ESAD-UK 1 108224371 108224371 single base substitution G A upstream_gene_variant ESAD-UK 1 108224909 108224909 single base substitution A C intron_variant ESAD-UK 1 108224909 108224909 single base substitution A C upstream_gene_variant ESAD-UK 1 108225302 108225302 single base substitution T A intron_variant ESAD-UK 1 108225302 108225302 single base substitution T A upstream_gene_variant ESAD-UK 1 108225652 108225652 single base substitution A G intron_variant ESAD-UK 1 108226241 108226241 single base substitution A G intron_variant ESAD-UK 1 108226642 108226642 single base substitution T G intron_variant ESAD-UK 1 108226943 108226943 single base substitution T C intron_variant ESAD-UK 1 108226974 108226974 single base substitution T A intron_variant ESAD-UK 1 108227186 108227186 single base substitution T C intron_variant ESAD-UK 1 108227642 108227642 single base substitution C A intron_variant ESAD-UK 1 108227787 108227787 single base substitution T G intron_variant ESAD-UK 1 108229087 108229087 single base substitution A G intron_variant ESAD-UK 1 108229087 108229087 single base substitution A G upstream_gene_variant ESAD-UK 1 108229936 108229936 single base substitution A C intron_variant ESAD-UK 1 108229936 108229936 single base substitution A C upstream_gene_variant ESAD-UK 1 108230203 108230203 single base substitution A C intron_variant ESAD-UK 1 108230203 108230203 single base substitution A C upstream_gene_variant ESAD-UK 1 108231718 108231748 deletion of <=200bp GAAGAGCAAAGGATCGTTCTGGGGATAAGGG - intron_variant ESAD-UK 1 108231718 108231748 deletion of <=200bp GAAGAGCAAAGGATCGTTCTGGGGATAAGGG - upstream_gene_variant ESAD-UK 1 108231865 108231865 single base substitution A T intron_variant ESAD-UK 1 108231865 108231865 single base substitution A T upstream_gene_variant ESAD-UK 1 108231885 108231885 single base substitution C A intron_variant ESAD-UK 1 108231885 108231885 single base substitution C A upstream_gene_variant ESAD-UK 1 108232169 108232169 single base substitution T G intron_variant ESAD-UK 1 108232169 108232169 single base substitution T G upstream_gene_variant ESAD-UK 1 108232471 108232471 single base substitution T C intron_variant ESAD-UK 1 108232471 108232471 single base substitution T C upstream_gene_variant ESAD-UK 1 108232471 108232471 single base substitution T G intron_variant ESAD-UK 1 108232471 108232471 single base substitution T G upstream_gene_variant ESAD-UK 1 108232822 108232822 single base substitution A C intron_variant ESAD-UK 1 108232822 108232822 single base substitution A C upstream_gene_variant ESAD-UK 1 108233369 108233369 single base substitution G T intron_variant ESAD-UK 1 108233369 108233369 single base substitution G T upstream_gene_variant ESAD-UK 1 108233821 108233821 single base substitution A C intron_variant ESAD-UK 1 108233821 108233821 single base substitution A C upstream_gene_variant ESAD-UK 1 108234411 108234411 single base substitution A C intron_variant ESAD-UK 1 108234411 108234411 single base substitution A C upstream_gene_variant ESAD-UK 1 108234569 108234569 single base substitution T C intron_variant ESAD-UK 1 108234569 108234569 single base substitution T C upstream_gene_variant ESAD-UK 1 108235401 108235401 single base substitution A G intron_variant ESAD-UK 1 108235401 108235401 single base substitution A G upstream_gene_variant ESAD-UK 1 108235471 108235471 single base substitution G T intron_variant ESAD-UK 1 108235471 108235471 single base substitution G T upstream_gene_variant ESAD-UK 1 108235619 108235619 single base substitution A G intron_variant ESAD-UK 1 108235619 108235619 single base substitution A G upstream_gene_variant ESAD-UK 1 108235659 108235659 single base substitution C A intron_variant ESAD-UK 1 108235659 108235659 single base substitution C A upstream_gene_variant ESAD-UK 1 108236303 108236303 single base substitution A C intron_variant ESAD-UK 1 108237386 108237386 single base substitution T G intron_variant ESAD-UK 1 108237773 108237773 single base substitution G T intron_variant ESAD-UK 1 108237798 108237798 single base substitution A C intron_variant ESAD-UK 1 108237820 108237820 single base substitution T G intron_variant ESAD-UK 1 108238200 108238200 single base substitution A C intron_variant ESAD-UK 1 108238612 108238612 single base substitution G A intron_variant ESAD-UK 1 108238798 108238798 single base substitution A G intron_variant ESAD-UK 1 108238857 108238857 single base substitution T C intron_variant ESAD-UK 1 108239346 108239346 single base substitution T G intron_variant ESAD-UK 1 108239381 108239381 deletion of <=200bp T - intron_variant ESAD-UK 1 108239423 108239423 single base substitution A C intron_variant ESAD-UK 1 108239764 108239764 single base substitution A C intron_variant ESAD-UK 1 108240638 108240638 single base substitution C A intron_variant ESAD-UK 1 108240731 108240731 single base substitution G A intron_variant ESAD-UK 1 108240911 108240911 single base substitution C T intron_variant ESAD-UK 1 108240953 108240953 single base substitution C A intron_variant ESAD-UK 1 108241172 108241172 deletion of <=200bp A - intron_variant ESAD-UK 1 108241510 108241510 single base substitution T G intron_variant ESAD-UK 1 108241525 108241525 single base substitution A T intron_variant ESAD-UK 1 108242457 108242457 single base substitution A T intron_variant ESAD-UK 1 108242779 108242779 single base substitution A C intron_variant ESAD-UK 1 108243363 108243363 single base substitution A G intron_variant ESAD-UK 1 108243376 108243376 single base substitution T C intron_variant ESAD-UK 1 108243861 108243861 single base substitution G T intron_variant ESAD-UK 1 108243992 108243992 single base substitution G A intron_variant ESAD-UK 1 108245685 108245685 single base substitution A G intron_variant ESAD-UK 1 108246167 108246167 single base substitution A T intron_variant ESAD-UK 1 108247016 108247016 single base substitution A C intron_variant ESAD-UK 1 108247717 108247717 single base substitution A C intron_variant ESAD-UK 1 108248656 108248656 single base substitution A C intron_variant ESAD-UK 1 108249238 108249238 single base substitution G A intron_variant ESAD-UK 1 108249315 108249315 single base substitution A G intron_variant ESAD-UK 1 108249455 108249455 single base substitution A C intron_variant ESAD-UK 1 108249479 108249479 single base substitution T A intron_variant ESAD-UK 1 108249512 108249512 single base substitution A C intron_variant ESAD-UK 1 108250480 108250480 single base substitution A G intron_variant ESAD-UK 1 108250831 108250831 single base substitution G T intron_variant ESAD-UK 1 108251219 108251219 single base substitution A G intron_variant ESAD-UK 1 108251359 108251359 single base substitution T G intron_variant ESAD-UK 1 108251483 108251483 single base substitution C A intron_variant ESAD-UK 1 108251618 108251618 single base substitution A G intron_variant ESAD-UK 1 108251652 108251652 single base substitution A G intron_variant ESAD-UK 1 108252254 108252254 single base substitution G A intron_variant ESAD-UK 1 108252692 108252692 single base substitution T G intron_variant ESAD-UK 1 108252950 108252950 single base substitution A C intron_variant ESAD-UK 1 108253425 108253425 single base substitution A T intron_variant ESAD-UK 1 108253872 108253872 single base substitution C A intron_variant ESAD-UK 1 108253994 108253994 single base substitution A G intron_variant ESAD-UK 1 108254000 108254000 single base substitution T A intron_variant ESAD-UK 1 108254035 108254035 deletion of <=200bp T - intron_variant ESAD-UK 1 108254044 108254044 single base substitution A G intron_variant ESAD-UK 1 108254335 108254335 single base substitution T C intron_variant ESAD-UK 1 108254550 108254550 single base substitution T C intron_variant ESAD-UK 1 108254938 108254938 single base substitution C T intron_variant ESAD-UK 1 108254971 108254971 single base substitution G A intron_variant ESAD-UK 1 108255656 108255656 single base substitution C A intron_variant ESAD-UK 1 108256052 108256052 single base substitution T C intron_variant ESAD-UK 1 108256878 108256878 single base substitution A G intron_variant ESAD-UK 1 108257347 108257347 insertion of <=200bp - A intron_variant ESAD-UK 1 108257554 108257554 single base substitution A C intron_variant ESAD-UK 1 108257948 108257948 single base substitution G A intron_variant ESAD-UK 1 108260059 108260059 single base substitution G A intron_variant ESAD-UK 1 108260312 108260312 single base substitution G A intron_variant ESAD-UK 1 108260466 108260466 single base substitution A T intron_variant ESAD-UK 1 108260926 108260926 single base substitution A G intron_variant ESAD-UK 1 108263283 108263283 single base substitution A T intron_variant ESAD-UK 1 108263798 108263798 single base substitution C T intron_variant ESAD-UK 1 108264016 108264016 single base substitution G A intron_variant ESAD-UK 1 108265289 108265289 single base substitution G A intron_variant ESAD-UK 1 108265350 108265350 single base substitution G A intron_variant ESAD-UK 1 108266484 108266484 single base substitution T G intron_variant ESAD-UK 1 108266569 108266569 single base substitution T C intron_variant ESAD-UK 1 108267459 108267459 single base substitution A G intron_variant ESAD-UK 1 108267609 108267609 single base substitution A G intron_variant ESAD-UK 1 108267741 108267741 single base substitution G T intron_variant ESAD-UK 1 108267889 108267889 single base substitution T C intron_variant ESAD-UK 1 108267921 108267921 single base substitution T C intron_variant ESAD-UK 1 108268035 108268035 single base substitution A T intron_variant ESAD-UK 1 108268204 108268204 single base substitution T A intron_variant ESAD-UK 1 108268388 108268388 deletion of <=200bp G - intron_variant ESAD-UK 1 108268758 108268758 single base substitution A T intron_variant ESAD-UK 1 108269418 108269418 single base substitution A C intron_variant ESAD-UK 1 108269626 108269626 single base substitution A C intron_variant ESAD-UK 1 108269819 108269819 single base substitution A G intron_variant ESAD-UK 1 108270037 108270037 single base substitution T G intron_variant ESAD-UK 1 108270194 108270194 single base substitution G T intron_variant ESAD-UK 1 108270787 108270787 single base substitution G A intron_variant ESAD-UK 1 108271186 108271186 single base substitution A T intron_variant ESAD-UK 1 108271591 108271591 single base substitution A G intron_variant ESAD-UK 1 108271617 108271617 deletion of <=200bp T - intron_variant ESAD-UK 1 108271690 108271690 single base substitution A C intron_variant ESAD-UK 1 108273762 108273762 single base substitution A C intron_variant ESAD-UK 1 108274229 108274229 single base substitution A C intron_variant ESAD-UK 1 108274550 108274550 single base substitution T A intron_variant ESAD-UK 1 108274602 108274602 single base substitution T G intron_variant ESAD-UK 1 108274629 108274629 single base substitution G A intron_variant ESAD-UK 1 108275033 108275033 single base substitution C T intron_variant ESAD-UK 1 108275230 108275230 single base substitution T G intron_variant ESAD-UK 1 108275933 108275933 insertion of <=200bp - A intron_variant ESAD-UK 1 108276143 108276143 single base substitution A C intron_variant ESAD-UK 1 108276233 108276233 single base substitution C T intron_variant ESAD-UK 1 108276303 108276303 single base substitution A C intron_variant ESAD-UK 1 108276346 108276346 single base substitution A G intron_variant ESAD-UK 1 108276404 108276404 single base substitution G A intron_variant ESAD-UK 1 108276608 108276608 single base substitution A C intron_variant ESAD-UK 1 108277669 108277669 single base substitution A G intron_variant ESAD-UK 1 108277966 108277966 single base substitution A G intron_variant ESAD-UK 1 108278570 108278570 single base substitution A C intron_variant ESAD-UK 1 108278670 108278670 single base substitution T C intron_variant ESAD-UK 1 108279244 108279244 single base substitution A C intron_variant ESAD-UK 1 108279716 108279716 single base substitution A C intron_variant ESAD-UK 1 108280960 108280960 single base substitution G T intron_variant ESAD-UK 1 108281365 108281365 single base substitution G A intron_variant ESAD-UK 1 108281762 108281762 deletion of <=200bp C - intron_variant ESAD-UK 1 108281857 108281857 single base substitution C G intron_variant ESAD-UK 1 108282344 108282344 single base substitution A T intron_variant ESAD-UK 1 108284148 108284148 single base substitution A C intron_variant ESAD-UK 1 108284530 108284530 single base substitution T C intron_variant ESAD-UK 1 108284891 108284891 single base substitution A C intron_variant ESAD-UK 1 108285065 108285065 single base substitution G A intron_variant ESAD-UK 1 108286822 108286822 single base substitution C T intron_variant ESAD-UK 1 108286977 108286977 single base substitution G A intron_variant ESAD-UK 1 108290090 108290090 single base substitution A G intron_variant ESAD-UK 1 108290855 108290855 single base substitution C G intron_variant ESAD-UK 1 108290987 108290987 single base substitution A G intron_variant ESAD-UK 1 108291801 108291801 single base substitution C G intron_variant ESAD-UK 1 108293796 108293796 single base substitution G C exon_variant ESAD-UK 1 108293796 108293796 single base substitution G C missense_variant P336R 1007C>G ESAD-UK 1 108293796 108293796 single base substitution G C missense_variant P395R 1184C>G ESAD-UK 1 108293796 108293796 single base substitution G C missense_variant P401R 1202C>G ESAD-UK 1 108293796 108293796 single base substitution G C upstream_gene_variant ESAD-UK 1 108293917 108293917 single base substitution T C intron_variant ESAD-UK 1 108293917 108293917 single base substitution T C upstream_gene_variant ESAD-UK 1 108294796 108294796 single base substitution A G intron_variant ESAD-UK 1 108294796 108294796 single base substitution A G upstream_gene_variant ESAD-UK 1 108295009 108295009 single base substitution T C intron_variant ESAD-UK 1 108295009 108295009 single base substitution T C upstream_gene_variant ESAD-UK 1 108296163 108296163 insertion of <=200bp - TG intron_variant ESAD-UK 1 108296163 108296163 insertion of <=200bp - TG upstream_gene_variant ESAD-UK 1 108296310 108296310 single base substitution T C intron_variant ESAD-UK 1 108296310 108296310 single base substitution T C upstream_gene_variant ESAD-UK 1 108296448 108296448 single base substitution C A intron_variant ESAD-UK 1 108296448 108296448 single base substitution C A upstream_gene_variant ESAD-UK 1 108297957 108297957 single base substitution T G intron_variant ESAD-UK 1 108298001 108298001 single base substitution C A intron_variant ESAD-UK 1 108299739 108299739 single base substitution G A intron_variant ESAD-UK 1 108299740 108299740 insertion of <=200bp - TA intron_variant ESAD-UK 1 108299961 108299961 single base substitution A C intron_variant ESAD-UK 1 108300667 108300667 single base substitution C A intron_variant ESAD-UK 1 108301348 108301348 single base substitution C A intron_variant ESAD-UK 1 108303649 108303649 insertion of <=200bp - T intron_variant ESAD-UK 1 108303771 108303771 single base substitution G T intron_variant ESAD-UK 1 108304615 108304615 single base substitution A G downstream_gene_variant ESAD-UK 1 108304615 108304615 single base substitution A G intron_variant ESAD-UK 1 108306139 108306139 single base substitution A C downstream_gene_variant ESAD-UK 1 108306139 108306139 single base substitution A C intron_variant ESAD-UK 1 108309238 108309238 single base substitution G A downstream_gene_variant ESAD-UK 1 108309238 108309238 single base substitution G A intron_variant ESAD-UK 1 108310741 108310741 single base substitution C T downstream_gene_variant ESAD-UK 1 108310741 108310741 single base substitution C T intron_variant ESAD-UK 1 108312632 108312632 single base substitution G T downstream_gene_variant ESAD-UK 1 108312632 108312632 single base substitution G T intron_variant ESAD-UK 1 108312905 108312905 deletion of <=200bp C - downstream_gene_variant ESAD-UK 1 108312905 108312905 deletion of <=200bp C - intron_variant ESAD-UK 1 108315016 108315016 single base substitution T C intron_variant ESAD-UK 1 108315260 108315260 deletion of <=200bp A - intron_variant ESAD-UK 1 108315882 108315882 single base substitution C A intron_variant ESAD-UK 1 108317342 108317342 single base substitution C A intron_variant ESAD-UK 1 108319193 108319193 single base substitution G C intron_variant ESAD-UK 1 108319594 108319594 single base substitution T G intron_variant ESAD-UK 1 108320341 108320341 single base substitution A C exon_variant ESAD-UK 1 108320341 108320341 single base substitution A C intron_variant ESAD-UK 1 108321752 108321752 single base substitution T G intron_variant ESAD-UK 1 108322180 108322180 single base substitution A G intron_variant ESAD-UK 1 108322683 108322683 single base substitution G A intron_variant ESAD-UK 1 108323777 108323777 single base substitution A C intron_variant ESAD-UK 1 108323932 108323932 single base substitution A T intron_variant ESAD-UK 1 108324838 108324838 single base substitution A T intron_variant ESAD-UK 1 108325006 108325006 single base substitution A G intron_variant ESAD-UK 1 108325026 108325026 single base substitution A G intron_variant ESAD-UK 1 108327593 108327593 single base substitution C G intron_variant ESAD-UK 1 108328391 108328391 single base substitution C T intron_variant ESAD-UK 1 108328391 108328391 single base substitution C T upstream_gene_variant ESAD-UK 1 108329970 108329970 single base substitution C A intron_variant ESAD-UK 1 108329970 108329970 single base substitution C A upstream_gene_variant ESAD-UK 1 108330863 108330863 single base substitution A G intron_variant ESAD-UK 1 108330863 108330863 single base substitution A G upstream_gene_variant ESAD-UK 1 108330896 108330896 single base substitution T G intron_variant ESAD-UK 1 108330896 108330896 single base substitution T G upstream_gene_variant ESAD-UK 1 108331260 108331260 single base substitution G C intron_variant ESAD-UK 1 108331260 108331260 single base substitution G C upstream_gene_variant ESAD-UK 1 108331372 108331372 single base substitution T G intron_variant ESAD-UK 1 108331372 108331372 single base substitution T G upstream_gene_variant ESAD-UK 1 108332617 108332617 single base substitution A C intron_variant ESAD-UK 1 108332617 108332617 single base substitution A C upstream_gene_variant ESAD-UK 1 108332669 108332669 single base substitution C T intron_variant ESAD-UK 1 108332669 108332669 single base substitution C T upstream_gene_variant ESAD-UK 1 108332741 108332741 single base substitution C A intron_variant ESAD-UK 1 108332741 108332741 single base substitution C A upstream_gene_variant ESAD-UK 1 108333466 108333466 single base substitution C T intron_variant ESAD-UK 1 108333750 108333750 single base substitution A T intron_variant ESAD-UK 1 108333953 108333953 single base substitution A C intron_variant ESAD-UK 1 108334735 108334735 single base substitution C T intron_variant ESAD-UK 1 108336859 108336859 single base substitution G T intron_variant ESAD-UK 1 108337239 108337239 single base substitution A C intron_variant ESAD-UK 1 108337581 108337581 single base substitution G A intron_variant ESAD-UK 1 108337885 108337885 single base substitution G C intron_variant ESAD-UK 1 108338277 108338277 single base substitution A C intron_variant ESAD-UK 1 108338931 108338931 single base substitution A C intron_variant ESAD-UK 1 108339188 108339188 single base substitution C A intron_variant ESAD-UK 1 108339424 108339424 single base substitution A T intron_variant ESAD-UK 1 108339476 108339476 single base substitution A C intron_variant ESAD-UK 1 108339664 108339664 single base substitution T G intron_variant ESAD-UK 1 108340258 108340258 single base substitution G T intron_variant ESAD-UK 1 108340721 108340721 single base substitution A G intron_variant ESAD-UK 1 108343046 108343046 single base substitution T C intron_variant ESAD-UK 1 108343589 108343589 single base substitution A T intron_variant ESAD-UK 1 108344088 108344088 single base substitution T G intron_variant ESAD-UK 1 108344205 108344205 single base substitution T G intron_variant ESAD-UK 1 108344570 108344570 deletion of <=200bp T - intron_variant ESAD-UK 1 108344867 108344867 deletion of <=200bp T - intron_variant ESAD-UK 1 108345860 108345860 single base substitution C G intron_variant ESAD-UK 1 108346281 108346281 single base substitution G T intron_variant ESAD-UK 1 108346411 108346411 single base substitution C T intron_variant ESAD-UK 1 108346691 108346691 single base substitution T G intron_variant ESAD-UK 1 108347109 108347109 single base substitution T G intron_variant ESAD-UK 1 108347232 108347232 single base substitution T C intron_variant ESAD-UK 1 108348976 108348976 single base substitution T G intron_variant ESAD-UK 1 108349811 108349811 single base substitution A G intron_variant ESAD-UK 1 108350690 108350690 single base substitution A C intron_variant ESAD-UK 1 108350835 108350835 single base substitution A C intron_variant ESAD-UK 1 108351093 108351093 single base substitution C T intron_variant ESAD-UK 1 108351311 108351311 single base substitution T G intron_variant ESAD-UK 1 108351486 108351486 single base substitution T G intron_variant ESAD-UK 1 108351777 108351777 single base substitution G T intron_variant ESAD-UK 1 108352105 108352105 single base substitution T G intron_variant ESAD-UK 1 108352771 108352771 single base substitution T G intron_variant ESAD-UK 1 108356244 108356244 single base substitution C T intron_variant ESAD-UK 1 108357628 108357628 single base substitution A C intron_variant ESAD-UK 1 108357743 108357743 single base substitution G A intron_variant ESAD-UK 1 108358639 108358639 single base substitution G T intron_variant ESAD-UK 1 108358765 108358765 single base substitution G T intron_variant ESAD-UK 1 108359392 108359392 single base substitution A G intron_variant ESAD-UK 1 108360161 108360161 single base substitution A T intron_variant ESAD-UK 1 108360439 108360439 deletion of <=200bp A - intron_variant ESAD-UK 1 108360697 108360697 single base substitution C G intron_variant ESAD-UK 1 108361684 108361684 deletion of <=200bp A - intron_variant ESAD-UK 1 108361845 108361845 single base substitution T G intron_variant ESAD-UK 1 108362281 108362281 single base substitution T G intron_variant ESAD-UK 1 108362848 108362848 single base substitution G A intron_variant ESAD-UK 1 108363095 108363095 insertion of <=200bp - G intron_variant ESAD-UK 1 108363111 108363111 single base substitution G A intron_variant ESAD-UK 1 108364232 108364232 single base substitution C T intron_variant ESAD-UK 1 108364232 108364232 single base substitution C T upstream_gene_variant ESAD-UK 1 108364349 108364349 single base substitution T C intron_variant ESAD-UK 1 108364349 108364349 single base substitution T C upstream_gene_variant ESAD-UK 1 108364832 108364832 single base substitution G A intron_variant ESAD-UK 1 108364832 108364832 single base substitution G A upstream_gene_variant ESAD-UK 1 108364870 108364870 single base substitution T G intron_variant ESAD-UK 1 108364870 108364870 single base substitution T G upstream_gene_variant ESAD-UK 1 108365275 108365278 deletion of <=200bp AAAA - intron_variant ESAD-UK 1 108365275 108365278 deletion of <=200bp AAAA - upstream_gene_variant ESAD-UK 1 108365299 108365299 deletion of <=200bp T - intron_variant ESAD-UK 1 108365299 108365299 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 108365301 108365303 deletion of <=200bp AAT - intron_variant ESAD-UK 1 108365301 108365303 deletion of <=200bp AAT - upstream_gene_variant ESAD-UK 1 108366098 108366098 single base substitution C T intron_variant ESAD-UK 1 108366098 108366098 single base substitution C T upstream_gene_variant ESAD-UK 1 108366184 108366184 single base substitution G A intron_variant ESAD-UK 1 108366184 108366184 single base substitution G A upstream_gene_variant ESAD-UK 1 108367028 108367028 single base substitution A G intron_variant ESAD-UK 1 108367028 108367028 single base substitution A G upstream_gene_variant ESAD-UK 1 108367094 108367094 single base substitution A C intron_variant ESAD-UK 1 108367094 108367094 single base substitution A C upstream_gene_variant ESAD-UK 1 108367737 108367737 single base substitution A G intron_variant ESAD-UK 1 108367737 108367737 single base substitution A G upstream_gene_variant ESAD-UK 1 108367873 108367873 single base substitution T C intron_variant ESAD-UK 1 108367873 108367873 single base substitution T C upstream_gene_variant ESAD-UK 1 108369257 108369257 single base substitution A G intron_variant ESAD-UK 1 108369324 108369324 single base substitution C T intron_variant ESAD-UK 1 108369683 108369683 single base substitution A G intron_variant ESAD-UK 1 108370280 108370280 single base substitution T G intron_variant ESAD-UK 1 108370422 108370422 single base substitution T G intron_variant ESAD-UK 1 108370771 108370771 single base substitution T G intron_variant ESAD-UK 1 108370868 108370868 single base substitution T G intron_variant ESAD-UK 1 108371380 108371380 single base substitution C G intron_variant ESAD-UK 1 108371697 108371697 single base substitution C A intron_variant ESAD-UK 1 108372536 108372536 single base substitution A C intron_variant ESAD-UK 1 108372773 108372773 single base substitution A G intron_variant ESAD-UK 1 108373164 108373164 single base substitution C A intron_variant ESAD-UK 1 108373973 108373973 single base substitution T C intron_variant ESAD-UK 1 108373988 108373988 single base substitution G C intron_variant ESAD-UK 1 108374331 108374331 single base substitution T G intron_variant ESAD-UK 1 108374539 108374539 single base substitution C A intron_variant ESAD-UK 1 108374669 108374669 single base substitution T G intron_variant ESAD-UK 1 108374859 108374859 single base substitution C T intron_variant ESAD-UK 1 108375444 108375444 single base substitution C T intron_variant ESAD-UK 1 108375732 108375732 single base substitution G A intron_variant ESAD-UK 1 108375957 108375957 single base substitution T G intron_variant ESAD-UK 1 108376177 108376177 single base substitution A T intron_variant ESAD-UK 1 108376562 108376562 single base substitution C T intron_variant ESAD-UK 1 108376662 108376662 single base substitution A C intron_variant ESAD-UK 1 108378402 108378402 single base substitution A G intron_variant ESAD-UK 1 108378677 108378677 single base substitution C A intron_variant ESAD-UK 1 108379251 108379251 single base substitution A G intron_variant ESAD-UK 1 108380794 108380794 single base substitution T G intron_variant ESAD-UK 1 108382102 108382102 single base substitution A C intron_variant ESAD-UK 1 108382433 108382433 single base substitution A G intron_variant ESAD-UK 1 108382436 108382436 deletion of <=200bp T - intron_variant ESAD-UK 1 108382898 108382898 single base substitution T G intron_variant ESAD-UK 1 108384024 108384024 single base substitution G T intron_variant ESAD-UK 1 108384988 108384988 single base substitution C T intron_variant ESAD-UK 1 108385050 108385050 single base substitution C T intron_variant ESAD-UK 1 108385268 108385268 deletion of <=200bp T - intron_variant ESAD-UK 1 108385679 108385679 single base substitution A C intron_variant ESAD-UK 1 108386324 108386324 insertion of <=200bp - T intron_variant ESAD-UK 1 108387500 108387500 single base substitution C G intron_variant ESAD-UK 1 108387615 108387615 single base substitution C G intron_variant ESAD-UK 1 108388595 108388595 single base substitution A C intron_variant ESAD-UK 1 108388906 108388906 single base substitution A G intron_variant ESAD-UK 1 108389910 108389910 single base substitution T A intron_variant ESAD-UK 1 108390247 108390247 single base substitution G C intron_variant ESAD-UK 1 108390375 108390375 single base substitution A G intron_variant ESAD-UK 1 108392496 108392496 insertion of <=200bp - A intron_variant ESAD-UK 1 108392747 108392747 single base substitution G A intron_variant ESAD-UK 1 108393052 108393052 single base substitution T G intron_variant ESAD-UK 1 108393349 108393349 single base substitution A T intron_variant ESAD-UK 1 108393596 108393596 single base substitution A G intron_variant ESAD-UK 1 108394345 108394345 single base substitution A C intron_variant ESAD-UK 1 108394353 108394353 single base substitution T A intron_variant ESAD-UK 1 108394524 108394524 single base substitution A C intron_variant ESAD-UK 1 108395418 108395418 single base substitution A C intron_variant ESAD-UK 1 108396249 108396249 single base substitution A T intron_variant ESAD-UK 1 108397317 108397317 single base substitution A G intron_variant ESAD-UK 1 108397747 108397747 single base substitution T G intron_variant ESAD-UK 1 108398169 108398169 single base substitution A T intron_variant ESAD-UK 1 108398233 108398233 single base substitution A G intron_variant ESAD-UK 1 108398265 108398265 single base substitution T G intron_variant ESAD-UK 1 108398367 108398367 deletion of <=200bp A - intron_variant ESAD-UK 1 108398613 108398613 single base substitution A C intron_variant ESAD-UK 1 108401130 108401130 single base substitution G A intron_variant ESAD-UK 1 108401178 108401178 single base substitution C A intron_variant ESAD-UK 1 108402423 108402423 single base substitution A C intron_variant ESAD-UK 1 108402658 108402658 single base substitution A C intron_variant ESAD-UK 1 108402659 108402659 single base substitution T A intron_variant ESAD-UK 1 108403132 108403132 single base substitution T G intron_variant ESAD-UK 1 108403422 108403422 single base substitution G A intron_variant ESAD-UK 1 108403491 108403491 deletion of <=200bp A - intron_variant ESAD-UK 1 108404502 108404502 single base substitution C T intron_variant ESAD-UK 1 108405311 108405311 single base substitution A C exon_variant ESAD-UK 1 108405311 108405311 single base substitution A C intron_variant ESAD-UK 1 108405854 108405854 single base substitution T G intron_variant ESAD-UK 1 108406081 108406081 single base substitution A C intron_variant ESAD-UK 1 108406390 108406390 single base substitution A C intron_variant ESAD-UK 1 108406587 108406587 single base substitution A C intron_variant ESAD-UK 1 108406589 108406589 single base substitution T A intron_variant ESAD-UK 1 108407025 108407025 single base substitution C T intron_variant ESAD-UK 1 108407176 108407176 single base substitution A C intron_variant ESAD-UK 1 108409037 108409037 single base substitution T G intron_variant ESAD-UK 1 108409946 108409946 single base substitution A C intron_variant ESAD-UK 1 108410571 108410571 single base substitution C T intron_variant ESAD-UK 1 108410615 108410615 single base substitution T G intron_variant ESAD-UK 1 108412045 108412045 single base substitution A C intron_variant ESAD-UK 1 108412485 108412485 single base substitution T G intron_variant ESAD-UK 1 108413022 108413022 single base substitution T C intron_variant ESAD-UK 1 108413055 108413055 single base substitution T C intron_variant ESAD-UK 1 108413969 108413969 single base substitution C G intron_variant ESAD-UK 1 108414430 108414430 single base substitution A C intron_variant ESAD-UK 1 108414595 108414595 single base substitution C A intron_variant ESAD-UK 1 108414994 108414994 single base substitution A C intron_variant ESAD-UK 1 108415749 108415749 single base substitution T G intron_variant ESAD-UK 1 108415858 108415858 single base substitution G T intron_variant ESAD-UK 1 108415926 108415926 deletion of <=200bp T - intron_variant ESAD-UK 1 108415962 108415962 single base substitution T G intron_variant ESAD-UK 1 108416094 108416094 deletion of <=200bp T - intron_variant ESAD-UK 1 108416105 108416105 single base substitution G A intron_variant ESAD-UK 1 108416511 108416511 single base substitution T C intron_variant ESAD-UK 1 108417512 108417512 single base substitution A C intron_variant ESAD-UK 1 108418256 108418256 single base substitution A G intron_variant ESAD-UK 1 108418550 108418550 single base substitution C T intron_variant ESAD-UK 1 108418726 108418726 single base substitution A G intron_variant ESAD-UK 1 108421494 108421494 single base substitution T G intron_variant ESAD-UK 1 108423175 108423175 single base substitution C A intron_variant ESAD-UK 1 108424570 108424570 single base substitution A C intron_variant ESAD-UK 1 108425118 108425118 single base substitution A C intron_variant ESAD-UK 1 108425391 108425391 single base substitution G A intron_variant ESAD-UK 1 108425399 108425399 single base substitution C A intron_variant ESAD-UK 1 108425954 108425954 single base substitution A G intron_variant ESAD-UK 1 108426372 108426372 insertion of <=200bp - AC intron_variant ESAD-UK 1 108426457 108426457 single base substitution T G intron_variant ESAD-UK 1 108427168 108427168 single base substitution A C intron_variant ESAD-UK 1 108427372 108427372 single base substitution A C intron_variant ESAD-UK 1 108427882 108427882 insertion of <=200bp - CA intron_variant ESAD-UK 1 108428386 108428386 single base substitution A G intron_variant ESAD-UK 1 108428528 108428528 single base substitution C A intron_variant ESAD-UK 1 108428989 108428989 single base substitution C G intron_variant ESAD-UK 1 108429001 108429001 single base substitution T G intron_variant ESAD-UK 1 108429030 108429030 single base substitution G T intron_variant ESAD-UK 1 108429291 108429291 single base substitution C G intron_variant ESAD-UK 1 108431060 108431060 single base substitution C A intron_variant ESAD-UK 1 108431697 108431697 single base substitution T C intron_variant ESAD-UK 1 108431918 108431918 single base substitution C T intron_variant ESAD-UK 1 108432676 108432676 single base substitution C G intron_variant ESAD-UK 1 108434352 108434352 single base substitution T G intron_variant ESAD-UK 1 108436617 108436617 single base substitution A C intron_variant ESAD-UK 1 108437806 108437806 single base substitution T G intron_variant ESAD-UK 1 108438636 108438636 single base substitution T G intron_variant ESAD-UK 1 108439184 108439184 single base substitution A G intron_variant ESAD-UK 1 108439881 108439881 single base substitution C T intron_variant ESAD-UK 1 108440926 108440926 single base substitution T A intron_variant ESAD-UK 1 108441047 108441047 single base substitution A C intron_variant ESAD-UK 1 108441869 108441869 single base substitution A C intron_variant ESAD-UK 1 108442096 108442096 single base substitution A G intron_variant ESAD-UK 1 108443772 108443772 single base substitution G A intron_variant ESAD-UK 1 108444924 108444924 single base substitution T G intron_variant ESAD-UK 1 108445092 108445092 single base substitution G T intron_variant ESAD-UK 1 108445794 108445794 single base substitution A T intron_variant ESAD-UK 1 108445922 108445922 single base substitution G T intron_variant ESAD-UK 1 108447567 108447567 single base substitution A C intron_variant ESAD-UK 1 108448601 108448601 single base substitution G A intron_variant ESAD-UK 1 108448893 108448893 single base substitution T C intron_variant ESAD-UK 1 108449137 108449137 single base substitution A C intron_variant ESAD-UK 1 108449179 108449179 single base substitution T C intron_variant ESAD-UK 1 108450288 108450288 single base substitution C T intron_variant ESAD-UK 1 108451353 108451353 single base substitution A C intron_variant ESAD-UK 1 108452200 108452200 single base substitution G A intron_variant ESAD-UK 1 108454356 108454356 single base substitution A G intron_variant ESAD-UK 1 108454863 108454863 single base substitution G C intron_variant ESAD-UK 1 108455017 108455017 single base substitution T G intron_variant ESAD-UK 1 108456413 108456413 deletion of <=200bp T - intron_variant ESAD-UK 1 108456625 108456625 single base substitution C A intron_variant ESAD-UK 1 108457696 108457696 single base substitution G A intron_variant ESAD-UK 1 108457723 108457723 single base substitution A C intron_variant ESAD-UK 1 108457998 108457998 single base substitution T G intron_variant ESAD-UK 1 108458755 108458755 single base substitution T G intron_variant ESAD-UK 1 108459308 108459308 single base substitution G T intron_variant ESAD-UK 1 108460263 108460263 single base substitution A G intron_variant ESAD-UK 1 108462436 108462436 single base substitution T A intron_variant ESAD-UK 1 108462530 108462530 deletion of <=200bp A - intron_variant ESAD-UK 1 108464101 108464101 single base substitution A C intron_variant ESAD-UK 1 108464188 108464188 single base substitution C A intron_variant ESAD-UK 1 108464439 108464439 single base substitution G A intron_variant ESAD-UK 1 108466060 108466060 single base substitution A G intron_variant ESAD-UK 1 108466267 108466267 single base substitution A C intron_variant ESAD-UK 1 108466590 108466590 single base substitution A G intron_variant ESAD-UK 1 108466591 108466591 single base substitution G T intron_variant ESAD-UK 1 108467354 108467354 single base substitution T C intron_variant ESAD-UK 1 108467376 108467376 single base substitution G A intron_variant ESAD-UK 1 108468740 108468740 single base substitution A G intron_variant ESAD-UK 1 108468867 108468867 single base substitution C T intron_variant ESAD-UK 1 108469734 108469734 single base substitution G C intron_variant ESAD-UK 1 108469929 108469929 single base substitution A G intron_variant ESAD-UK 1 108470437 108470437 single base substitution A G intron_variant ESAD-UK 1 108470445 108470445 single base substitution C G intron_variant ESAD-UK 1 108471090 108471090 single base substitution G A intron_variant ESAD-UK 1 108471473 108471473 single base substitution A C intron_variant ESAD-UK 1 108472586 108472586 single base substitution T G intron_variant ESAD-UK 1 108472689 108472689 single base substitution A C intron_variant ESAD-UK 1 108473143 108473143 single base substitution T G intron_variant ESAD-UK 1 108473253 108473253 deletion of <=200bp T - intron_variant ESAD-UK 1 108473627 108473627 single base substitution A T intron_variant ESAD-UK 1 108474381 108474381 single base substitution G A intron_variant ESAD-UK 1 108475730 108475730 single base substitution G A intron_variant ESAD-UK 1 108475739 108475739 single base substitution A G intron_variant ESAD-UK 1 108476418 108476418 single base substitution A C intron_variant ESAD-UK 1 108476480 108476480 single base substitution C A intron_variant ESAD-UK 1 108476709 108476709 single base substitution A C intron_variant ESAD-UK 1 108477489 108477489 single base substitution G A intron_variant ESAD-UK 1 108481513 108481513 single base substitution A C intron_variant ESAD-UK 1 108482515 108482515 single base substitution A G intron_variant ESAD-UK 1 108484067 108484067 single base substitution T G intron_variant ESAD-UK 1 108484497 108484497 insertion of <=200bp - A intron_variant ESAD-UK 1 108485105 108485105 single base substitution T A intron_variant ESAD-UK 1 108485335 108485335 single base substitution A C intron_variant ESAD-UK 1 108485976 108485976 single base substitution A C intron_variant ESAD-UK 1 108486395 108486395 single base substitution C G intron_variant ESAD-UK 1 108486915 108486915 single base substitution C A intron_variant ESAD-UK 1 108487803 108487803 single base substitution C A intron_variant ESAD-UK 1 108488255 108488255 single base substitution C A intron_variant ESAD-UK 1 108488277 108488277 single base substitution C G intron_variant ESAD-UK 1 108488634 108488634 single base substitution T G intron_variant ESAD-UK 1 108488974 108488974 single base substitution A C intron_variant ESAD-UK 1 108489224 108489224 single base substitution C A intron_variant ESAD-UK 1 108489224 108489224 single base substitution C G intron_variant ESAD-UK 1 108489442 108489442 single base substitution T C intron_variant ESAD-UK 1 108489917 108489917 single base substitution A T intron_variant ESAD-UK 1 108490513 108490513 single base substitution T C intron_variant ESAD-UK 1 108490687 108490687 single base substitution A C intron_variant ESAD-UK 1 108491046 108491046 single base substitution A G intron_variant ESAD-UK 1 108491918 108491918 single base substitution C A intron_variant ESAD-UK 1 108493496 108493496 single base substitution C A intron_variant ESAD-UK 1 108493635 108493635 single base substitution G T intron_variant ESAD-UK 1 108496732 108496732 single base substitution A G intron_variant ESAD-UK 1 108498008 108498008 single base substitution T G intron_variant ESAD-UK 1 108498635 108498635 single base substitution G A intron_variant ESAD-UK 1 108498906 108498906 single base substitution A C intron_variant ESAD-UK 1 108499185 108499185 single base substitution G A intron_variant ESAD-UK 1 108499240 108499240 single base substitution A G intron_variant ESAD-UK 1 108500033 108500033 single base substitution T G intron_variant ESAD-UK 1 108500046 108500046 single base substitution C T intron_variant ESAD-UK 1 108501351 108501351 single base substitution C G intron_variant ESAD-UK 1 108502046 108502046 single base substitution A G intron_variant ESAD-UK 1 108502247 108502247 single base substitution G T intron_variant ESAD-UK 1 108502857 108502857 single base substitution A C intron_variant ESAD-UK 1 108502938 108502938 single base substitution A C intron_variant ESAD-UK 1 108502945 108502945 single base substitution G A intron_variant ESAD-UK 1 108503064 108503064 single base substitution G A intron_variant ESAD-UK 1 108503407 108503407 single base substitution G A intron_variant ESAD-UK 1 108503795 108503795 single base substitution A C intron_variant ESAD-UK 1 108504519 108504519 single base substitution G A intron_variant ESAD-UK 1 108504531 108504531 single base substitution A T intron_variant ESAD-UK 1 108504820 108504820 single base substitution C T intron_variant ESAD-UK 1 108505137 108505137 single base substitution A C intron_variant ESAD-UK 1 108505396 108505396 single base substitution G C intron_variant ESAD-UK 1 108505586 108505586 single base substitution A G intron_variant ESAD-UK 1 108505605 108505605 single base substitution A C intron_variant ESAD-UK 1 108506591 108506591 single base substitution G A intron_variant ESAD-UK 1 108506591 108506591 single base substitution G A upstream_gene_variant ESAD-UK 1 108506619 108506619 single base substitution C G intron_variant ESAD-UK 1 108506619 108506619 single base substitution C G upstream_gene_variant ESAD-UK 1 108508078 108508078 single base substitution C T upstream_gene_variant ESAD-UK 1 108508347 108508347 single base substitution G A upstream_gene_variant ESAD-UK 1 108508853 108508853 single base substitution G C upstream_gene_variant ESAD-UK 1 108509038 108509038 single base substitution G A upstream_gene_variant ESAD-UK 1 108510029 108510029 single base substitution C T upstream_gene_variant ESAD-UK 1 108510364 108510364 single base substitution T G upstream_gene_variant ESAD-UK 1 108510365 108510365 single base substitution G T upstream_gene_variant ESAD-UK 1 108510504 108510504 single base substitution A G upstream_gene_variant ESAD-UK 1 108510773 108510773 single base substitution T C upstream_gene_variant ESAD-UK 1 108511801 108511801 single base substitution C A upstream_gene_variant ESAD-UK 1 108512407 108512407 single base substitution G A upstream_gene_variant ESCA-CN 1 108226164 108226164 single base substitution T C intron_variant ESCA-CN 1 108319866 108319866 single base substitution G C exon_variant ESCA-CN 1 108319866 108319866 single base substitution G C missense_variant P139A 415C>G ESCA-CN 1 108319866 108319866 single base substitution G C missense_variant P145A 433C>G ESCA-CN 1 108319866 108319866 single base substitution G C missense_variant P80A 238C>G ESCA-CN 1 108417645 108417645 single base substitution G T splice_region_variant GBM-US 1 108417540 108417540 single base substitution C A exon_variant GBM-US 1 108417540 108417540 single base substitution C A missense_variant V102F 304G>T GBM-US 1 108417540 108417540 single base substitution C A missense_variant V37F 109G>T GBM-US 1 108417540 108417540 single base substitution C A missense_variant V96F 286G>T KIRP-US 1 108507542 108507544 deletion of <=200bp GCC - 5_prime_UTR_variant KIRP-US 1 108507542 108507544 deletion of <=200bp GCC - upstream_gene_variant LAML-KR 1 108126561 108126561 single base substitution G C intron_variant LAML-KR 1 108471760 108471760 single base substitution A G intron_variant LAML-KR 1 108483669 108483669 single base substitution G T intron_variant LAML-KR 1 108511074 108511074 single base substitution T A upstream_gene_variant LGG-US 1 108507542 108507544 deletion of <=200bp GCC - 5_prime_UTR_variant LGG-US 1 108507542 108507544 deletion of <=200bp GCC - upstream_gene_variant LICA-CN 1 108138966 108138966 single base substitution T C intron_variant LICA-CN 1 108138966 108138966 single base substitution T C splice_region_variant LICA-CN 1 108291614 108291614 single base substitution C G exon_variant LICA-CN 1 108291614 108291614 single base substitution C G missense_variant W428S 1283G>C LICA-CN 1 108291614 108291614 single base substitution C G missense_variant W44S 131G>C LICA-CN 1 108291614 108291614 single base substitution C G missense_variant W487S 1460G>C LICA-CN 1 108291614 108291614 single base substitution C G missense_variant W493S 1478G>C LICA-FR 1 108109306 108109306 single base substitution T A downstream_gene_variant LICA-FR 1 108115994 108115994 single base substitution C T missense_variant V239M 715G>A LICA-FR 1 108115994 108115994 single base substitution C T missense_variant V275M 823G>A LICA-FR 1 108115994 108115994 single base substitution C T missense_variant V835M 2503G>A LICA-FR 1 108115994 108115994 single base substitution C T missense_variant V863M 2587G>A LICA-FR 1 108115994 108115994 single base substitution C T splice_region_variant LICA-FR 1 108117990 108117990 single base substitution G T intron_variant LICA-FR 1 108125496 108125496 single base substitution C A intron_variant LICA-FR 1 108140486 108140486 single base substitution C G intron_variant LICA-FR 1 108154983 108154983 single base substitution A G intron_variant LICA-FR 1 108155519 108155519 single base substitution T A downstream_gene_variant LICA-FR 1 108155519 108155519 single base substitution T A intron_variant LICA-FR 1 108160526 108160526 single base substitution A G intron_variant LICA-FR 1 108160862 108160862 single base substitution A G intron_variant LICA-FR 1 108164107 108164107 single base substitution G A intron_variant LICA-FR 1 108168306 108168306 single base substitution T A intron_variant LICA-FR 1 108183152 108183152 single base substitution G A intron_variant LICA-FR 1 108185316 108185316 single base substitution T A exon_variant LICA-FR 1 108185316 108185316 single base substitution T A missense_variant E140D 420A>T LICA-FR 1 108185316 108185316 single base substitution T A missense_variant E17D 51A>T LICA-FR 1 108185316 108185316 single base substitution T A missense_variant E53D 159A>T LICA-FR 1 108185316 108185316 single base substitution T A missense_variant E613D 1839A>T LICA-FR 1 108185663 108185663 single base substitution G A intron_variant LICA-FR 1 108196922 108196922 single base substitution T C intron_variant LICA-FR 1 108197590 108197590 single base substitution T C intron_variant LICA-FR 1 108198209 108198209 single base substitution A C intron_variant LICA-FR 1 108209844 108209844 single base substitution G T downstream_gene_variant LICA-FR 1 108209844 108209844 single base substitution G T intron_variant LICA-FR 1 108209845 108209845 single base substitution C T downstream_gene_variant LICA-FR 1 108209845 108209845 single base substitution C T intron_variant LICA-FR 1 108229514 108229514 single base substitution T C intron_variant LICA-FR 1 108229514 108229514 single base substitution T C upstream_gene_variant LICA-FR 1 108233744 108233744 single base substitution C T intron_variant LICA-FR 1 108233744 108233744 single base substitution C T upstream_gene_variant LICA-FR 1 108238431 108238431 single base substitution A T intron_variant LICA-FR 1 108239292 108239292 single base substitution G T intron_variant LICA-FR 1 108249115 108249115 single base substitution C T intron_variant LICA-FR 1 108251011 108251011 single base substitution C G intron_variant LICA-FR 1 108252465 108252465 single base substitution C A intron_variant LICA-FR 1 108255531 108255531 single base substitution G T intron_variant LICA-FR 1 108263007 108263007 insertion of <=200bp - AAAT intron_variant LICA-FR 1 108271228 108271228 single base substitution T C intron_variant LICA-FR 1 108276197 108276197 single base substitution T A intron_variant LICA-FR 1 108293738 108293738 single base substitution C G splice_donor_variant LICA-FR 1 108293738 108293738 single base substitution C G upstream_gene_variant LICA-FR 1 108298049 108298049 single base substitution C G missense_variant L326F 978G>C LICA-FR 1 108298049 108298049 single base substitution C G missense_variant L385F 1155G>C LICA-FR 1 108298049 108298049 single base substitution C G missense_variant L391F 1173G>C LICA-FR 1 108298049 108298049 single base substitution C G splice_region_variant LICA-FR 1 108298086 108298086 single base substitution C T exon_variant LICA-FR 1 108298086 108298086 single base substitution C T missense_variant R314H 941G>A LICA-FR 1 108298086 108298086 single base substitution C T missense_variant R373H 1118G>A LICA-FR 1 108298086 108298086 single base substitution C T missense_variant R379H 1136G>A LICA-FR 1 108308881 108308881 insertion of <=200bp - T downstream_gene_variant LICA-FR 1 108308881 108308881 insertion of <=200bp - T intron_variant LICA-FR 1 108310664 108310664 single base substitution G T downstream_gene_variant LICA-FR 1 108310664 108310664 single base substitution G T intron_variant LICA-FR 1 108315811 108315811 single base substitution C G intron_variant LICA-FR 1 108321146 108321146 single base substitution C G intron_variant LICA-FR 1 108360575 108360575 single base substitution C A intron_variant LICA-FR 1 108365308 108365308 single base substitution A T intron_variant LICA-FR 1 108365308 108365308 single base substitution A T upstream_gene_variant LICA-FR 1 108368704 108368704 single base substitution G C intron_variant LICA-FR 1 108373007 108373007 single base substitution T C intron_variant LICA-FR 1 108374066 108374066 single base substitution A G intron_variant LICA-FR 1 108375855 108375855 single base substitution A G intron_variant LICA-FR 1 108385660 108385660 single base substitution T A intron_variant LICA-FR 1 108393661 108393661 single base substitution A G intron_variant LICA-FR 1 108397691 108397691 single base substitution G A intron_variant LICA-FR 1 108401925 108401925 single base substitution C A intron_variant LICA-FR 1 108403944 108403944 single base substitution C G intron_variant LICA-FR 1 108410888 108410888 single base substitution A G intron_variant LICA-FR 1 108418759 108418759 single base substitution G A intron_variant LICA-FR 1 108420328 108420328 single base substitution T G intron_variant LICA-FR 1 108427909 108427909 single base substitution A G intron_variant LICA-FR 1 108430714 108430714 single base substitution T C intron_variant LICA-FR 1 108434925 108434925 single base substitution C T intron_variant LICA-FR 1 108440026 108440026 single base substitution G T intron_variant LICA-FR 1 108450852 108450852 single base substitution C A intron_variant LICA-FR 1 108452486 108452486 single base substitution A G intron_variant LICA-FR 1 108456571 108456571 single base substitution C A intron_variant LICA-FR 1 108460916 108460916 single base substitution A G intron_variant LICA-FR 1 108471106 108471106 single base substitution T C intron_variant LICA-FR 1 108475327 108475327 single base substitution G A intron_variant LICA-FR 1 108490944 108490944 insertion of <=200bp - AA intron_variant LICA-FR 1 108491495 108491495 single base substitution T A intron_variant LICA-FR 1 108494352 108494352 single base substitution T C intron_variant LICA-FR 1 108506929 108506929 single base substitution G A intron_variant LICA-FR 1 108506929 108506929 single base substitution G A upstream_gene_variant LIHC-US 1 108116734 108116734 single base substitution C A 3_prime_UTR_variant LIHC-US 1 108116734 108116734 single base substitution C A exon_variant LIHC-US 1 108116734 108116734 single base substitution C A missense_variant D217Y 649G>T LIHC-US 1 108116734 108116734 single base substitution C A missense_variant D253Y 757G>T LIHC-US 1 108116734 108116734 single base substitution C A missense_variant D813Y 2437G>T LIHC-US 1 108116734 108116734 single base substitution C A missense_variant D841Y 2521G>T LIHC-US 1 108152569 108152569 single base substitution A T 3_prime_UTR_variant LIHC-US 1 108152569 108152569 single base substitution A T exon_variant LIHC-US 1 108152569 108152569 single base substitution A T missense_variant Y107N 319T>A LIHC-US 1 108152569 108152569 single base substitution A T missense_variant Y667N 1999T>A LIHC-US 1 108152569 108152569 single base substitution A T missense_variant Y71N 211T>A LIHC-US 1 108292166 108292166 single base substitution T A exon_variant LIHC-US 1 108292166 108292166 single base substitution T A missense_variant D372V 1115A>T LIHC-US 1 108292166 108292166 single base substitution T A missense_variant D431V 1292A>T LIHC-US 1 108292166 108292166 single base substitution T A missense_variant D437V 1310A>T LIHC-US 1 108292166 108292166 single base substitution T A upstream_gene_variant LIHC-US 1 108315394 108315394 single base substitution T G exon_variant LIHC-US 1 108315394 108315394 single base substitution T G missense_variant Y108S 323A>C LIHC-US 1 108315394 108315394 single base substitution T G missense_variant Y167S 500A>C LIHC-US 1 108315394 108315394 single base substitution T G missense_variant Y173S 518A>C LIHC-US 1 108322079 108322079 single base substitution A T exon_variant LIHC-US 1 108322079 108322079 single base substitution A T synonymous_variant P113P 339T>A LIHC-US 1 108322079 108322079 single base substitution A T synonymous_variant P119P 357T>A LIHC-US 1 108322079 108322079 single base substitution A T synonymous_variant P54P 162T>A LINC-JP 1 108110351 108110351 single base substitution G A downstream_gene_variant LINC-JP 1 108113626 108113626 single base substitution G C downstream_gene_variant LINC-JP 1 108116943 108116943 single base substitution A T intron_variant LINC-JP 1 108119156 108119156 single base substitution T A intron_variant LINC-JP 1 108125302 108125302 single base substitution G A intron_variant LINC-JP 1 108129576 108129576 single base substitution A G intron_variant LINC-JP 1 108131805 108131805 single base substitution G A intron_variant LINC-JP 1 108133855 108133855 single base substitution C G intron_variant LINC-JP 1 108151524 108151524 single base substitution C A downstream_gene_variant LINC-JP 1 108151524 108151524 single base substitution C A intron_variant LINC-JP 1 108157009 108157009 single base substitution A T downstream_gene_variant LINC-JP 1 108157009 108157009 single base substitution A T intron_variant LINC-JP 1 108157602 108157602 single base substitution G C downstream_gene_variant LINC-JP 1 108157602 108157602 single base substitution G C intron_variant LINC-JP 1 108158751 108158751 single base substitution T C downstream_gene_variant LINC-JP 1 108158751 108158751 single base substitution T C intron_variant LINC-JP 1 108173960 108173960 single base substitution A T intron_variant LINC-JP 1 108179207 108179207 single base substitution T C intron_variant LINC-JP 1 108206810 108206810 single base substitution T C downstream_gene_variant LINC-JP 1 108206810 108206810 single base substitution T C intron_variant LINC-JP 1 108216692 108216692 single base substitution G A intron_variant LINC-JP 1 108216692 108216692 single base substitution G A upstream_gene_variant LINC-JP 1 108224371 108224371 single base substitution G A intron_variant LINC-JP 1 108224371 108224371 single base substitution G A upstream_gene_variant LINC-JP 1 108226137 108226137 single base substitution G A exon_variant LINC-JP 1 108226137 108226137 single base substitution G A intron_variant LINC-JP 1 108226137 108226137 single base substitution G A stop_gained R24* 70C>T LINC-JP 1 108226137 108226137 single base substitution G A stop_gained R519* 1555C>T LINC-JP 1 108226137 108226137 single base substitution G A stop_gained R578* 1732C>T LINC-JP 1 108226137 108226137 single base substitution G A stop_gained R584* 1750C>T LINC-JP 1 108227957 108227957 single base substitution A G intron_variant LINC-JP 1 108231936 108231936 single base substitution C T intron_variant LINC-JP 1 108231936 108231936 single base substitution C T upstream_gene_variant LINC-JP 1 108234802 108234802 single base substitution C G intron_variant LINC-JP 1 108234802 108234802 single base substitution C G upstream_gene_variant LINC-JP 1 108238540 108238540 single base substitution T C intron_variant LINC-JP 1 108240479 108240479 insertion of <=200bp - A intron_variant LINC-JP 1 108241547 108241547 single base substitution C A intron_variant LINC-JP 1 108246818 108246818 single base substitution A G intron_variant LINC-JP 1 108247472 108247472 single base substitution A T intron_variant LINC-JP 1 108247473 108247473 single base substitution G A intron_variant LINC-JP 1 108258482 108258482 single base substitution G A intron_variant LINC-JP 1 108260599 108260599 single base substitution C A intron_variant LINC-JP 1 108267045 108267045 single base substitution T C intron_variant LINC-JP 1 108267262 108267262 single base substitution G A intron_variant LINC-JP 1 108272637 108272637 single base substitution C T intron_variant LINC-JP 1 108274439 108274439 single base substitution T A intron_variant LINC-JP 1 108275281 108275281 single base substitution A G intron_variant LINC-JP 1 108289981 108289981 deletion of <=200bp A - intron_variant LINC-JP 1 108290744 108290744 single base substitution T C intron_variant LINC-JP 1 108291748 108291748 single base substitution T A intron_variant LINC-JP 1 108291846 108291846 single base substitution T G intron_variant LINC-JP 1 108298286 108298286 single base substitution A C intron_variant LINC-JP 1 108299759 108299759 single base substitution A G intron_variant LINC-JP 1 108300159 108300159 single base substitution A G intron_variant LINC-JP 1 108302020 108302020 single base substitution T C intron_variant LINC-JP 1 108308524 108308524 single base substitution G T downstream_gene_variant LINC-JP 1 108308524 108308524 single base substitution G T intron_variant LINC-JP 1 108323057 108323057 single base substitution C A intron_variant LINC-JP 1 108330160 108330160 single base substitution C T intron_variant LINC-JP 1 108330160 108330160 single base substitution C T upstream_gene_variant LINC-JP 1 108353928 108353928 single base substitution G T intron_variant LINC-JP 1 108364260 108364260 single base substitution G A intron_variant LINC-JP 1 108364260 108364260 single base substitution G A upstream_gene_variant LINC-JP 1 108369647 108369647 single base substitution G T intron_variant LINC-JP 1 108371186 108371186 single base substitution G C intron_variant LINC-JP 1 108373949 108373949 single base substitution C T intron_variant LINC-JP 1 108377901 108377901 single base substitution G T intron_variant LINC-JP 1 108395677 108395677 single base substitution T G intron_variant LINC-JP 1 108396650 108396650 single base substitution G A intron_variant LINC-JP 1 108396757 108396757 single base substitution C A intron_variant LINC-JP 1 108396758 108396758 single base substitution C T intron_variant LINC-JP 1 108405917 108405917 single base substitution G T intron_variant LINC-JP 1 108408708 108408708 single base substitution T C intron_variant LINC-JP 1 108429348 108429348 single base substitution C T intron_variant LINC-JP 1 108436866 108436866 single base substitution A G intron_variant LINC-JP 1 108441538 108441538 single base substitution G T intron_variant LINC-JP 1 108442067 108442067 single base substitution G A intron_variant LINC-JP 1 108448052 108448052 single base substitution C T intron_variant LINC-JP 1 108448252 108448252 single base substitution A G intron_variant LINC-JP 1 108448828 108448828 single base substitution C T intron_variant LINC-JP 1 108450867 108450867 single base substitution T G intron_variant LINC-JP 1 108450972 108450972 single base substitution C T intron_variant LINC-JP 1 108455749 108455749 single base substitution A T intron_variant LINC-JP 1 108459090 108459090 single base substitution C G intron_variant LINC-JP 1 108480155 108480155 single base substitution C T intron_variant LINC-JP 1 108498136 108498136 insertion of <=200bp - A intron_variant LINC-JP 1 108500486 108500486 single base substitution T A intron_variant LINC-JP 1 108505714 108505714 single base substitution G T intron_variant LINC-JP 1 108507350 108507350 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 1 108507350 108507350 single base substitution T C missense_variant N42D 124A>G LINC-JP 1 108507350 108507350 single base substitution T C missense_variant N48D 142A>G LINC-JP 1 108507350 108507350 single base substitution T C upstream_gene_variant LINC-JP 1 108507462 108507462 single base substitution C A 5_prime_UTR_variant LINC-JP 1 108507462 108507462 single base substitution C A missense_variant W10C 30G>T LINC-JP 1 108507462 108507462 single base substitution C A missense_variant W4C 12G>T LINC-JP 1 108507462 108507462 single base substitution C A upstream_gene_variant LINC-JP 1 108507470 108507470 single base substitution C T 5_prime_UTR_variant LINC-JP 1 108507470 108507470 single base substitution C T missense_variant A2T 4G>A LINC-JP 1 108507470 108507470 single base substitution C T missense_variant A8T 22G>A LINC-JP 1 108507470 108507470 single base substitution C T upstream_gene_variant LINC-JP 1 108508465 108508465 single base substitution C A upstream_gene_variant LINC-JP 1 108512077 108512077 single base substitution T C upstream_gene_variant LIRI-JP 1 108108821 108108821 single base substitution T G downstream_gene_variant LIRI-JP 1 108110060 108110060 single base substitution T C downstream_gene_variant LIRI-JP 1 108110444 108110444 single base substitution C T downstream_gene_variant LIRI-JP 1 108111124 108111124 single base substitution T A downstream_gene_variant LIRI-JP 1 108112218 108112218 single base substitution G T downstream_gene_variant LIRI-JP 1 108112503 108112503 single base substitution T C downstream_gene_variant LIRI-JP 1 108112593 108112593 single base substitution G A downstream_gene_variant LIRI-JP 1 108113301 108113301 single base substitution G T downstream_gene_variant LIRI-JP 1 108113542 108113542 single base substitution G A downstream_gene_variant LIRI-JP 1 108113747 108113747 single base substitution G T downstream_gene_variant LIRI-JP 1 108114095 108114095 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 108114095 108114095 single base substitution C A downstream_gene_variant LIRI-JP 1 108114345 108114345 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 108114345 108114345 single base substitution T G downstream_gene_variant LIRI-JP 1 108114825 108114825 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 108114825 108114825 single base substitution C A downstream_gene_variant LIRI-JP 1 108114955 108114955 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 108114955 108114955 single base substitution G T downstream_gene_variant LIRI-JP 1 108115753 108115753 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 108115753 108115753 single base substitution T C downstream_gene_variant LIRI-JP 1 108115753 108115753 single base substitution T C exon_variant LIRI-JP 1 108116247 108116247 single base substitution G T intron_variant LIRI-JP 1 108116581 108116598 deletion of <=200bp AGGCTTCTCCCTGGTGCC - intron_variant LIRI-JP 1 108118475 108118475 single base substitution G T intron_variant LIRI-JP 1 108118565 108118565 single base substitution G A intron_variant LIRI-JP 1 108118730 108118730 single base substitution T C intron_variant LIRI-JP 1 108118771 108118771 single base substitution T C intron_variant LIRI-JP 1 108119087 108119087 single base substitution C A exon_variant LIRI-JP 1 108119087 108119087 single base substitution C A intron_variant LIRI-JP 1 108119087 108119087 single base substitution C A missense_variant L787F 2361G>T LIRI-JP 1 108119152 108119152 single base substitution A G intron_variant LIRI-JP 1 108120142 108120142 single base substitution T C intron_variant LIRI-JP 1 108120202 108120202 single base substitution T G intron_variant LIRI-JP 1 108120398 108120398 single base substitution C A intron_variant LIRI-JP 1 108120912 108120912 single base substitution C T intron_variant LIRI-JP 1 108122335 108122335 single base substitution T C intron_variant LIRI-JP 1 108122827 108122827 single base substitution G C intron_variant LIRI-JP 1 108124471 108124471 single base substitution C T intron_variant LIRI-JP 1 108124957 108124957 single base substitution A G intron_variant LIRI-JP 1 108127859 108127859 single base substitution T A intron_variant LIRI-JP 1 108130433 108130433 single base substitution C T intron_variant LIRI-JP 1 108130473 108130473 single base substitution C G intron_variant LIRI-JP 1 108130597 108130597 single base substitution T A intron_variant LIRI-JP 1 108131413 108131413 single base substitution G C intron_variant LIRI-JP 1 108132260 108132260 single base substitution A G intron_variant LIRI-JP 1 108134227 108134227 single base substitution C T downstream_gene_variant LIRI-JP 1 108134227 108134227 single base substitution C T intron_variant LIRI-JP 1 108134860 108134860 single base substitution T C downstream_gene_variant LIRI-JP 1 108134860 108134860 single base substitution T C intron_variant LIRI-JP 1 108134879 108134879 single base substitution C T downstream_gene_variant LIRI-JP 1 108134879 108134879 single base substitution C T intron_variant LIRI-JP 1 108134980 108134980 single base substitution A G downstream_gene_variant LIRI-JP 1 108134980 108134980 single base substitution A G intron_variant LIRI-JP 1 108135649 108135649 single base substitution T C downstream_gene_variant LIRI-JP 1 108135649 108135649 single base substitution T C intron_variant LIRI-JP 1 108136561 108136561 single base substitution T G downstream_gene_variant LIRI-JP 1 108136561 108136561 single base substitution T G intron_variant LIRI-JP 1 108136944 108136944 single base substitution C A downstream_gene_variant LIRI-JP 1 108136944 108136944 single base substitution C A intron_variant LIRI-JP 1 108137090 108137090 single base substitution G T downstream_gene_variant LIRI-JP 1 108137090 108137090 single base substitution G T intron_variant LIRI-JP 1 108137908 108137908 single base substitution G A downstream_gene_variant LIRI-JP 1 108137908 108137908 single base substitution G A intron_variant LIRI-JP 1 108138957 108138957 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 108138957 108138957 single base substitution C A exon_variant LIRI-JP 1 108138957 108138957 single base substitution C A missense_variant V147L 439G>T LIRI-JP 1 108138957 108138957 single base substitution C A missense_variant V183L 547G>T LIRI-JP 1 108138957 108138957 single base substitution C A missense_variant V743L 2227G>T LIRI-JP 1 108139736 108139736 single base substitution G A intron_variant LIRI-JP 1 108140062 108140062 single base substitution A G intron_variant LIRI-JP 1 108140342 108140342 single base substitution T C intron_variant LIRI-JP 1 108140436 108140436 single base substitution A G intron_variant LIRI-JP 1 108140849 108140849 single base substitution G T downstream_gene_variant LIRI-JP 1 108140849 108140849 single base substitution G T intron_variant LIRI-JP 1 108141280 108141280 single base substitution C T downstream_gene_variant LIRI-JP 1 108141280 108141280 single base substitution C T intron_variant LIRI-JP 1 108141740 108141740 single base substitution G T downstream_gene_variant LIRI-JP 1 108141740 108141740 single base substitution G T intron_variant LIRI-JP 1 108142545 108142545 single base substitution A G downstream_gene_variant LIRI-JP 1 108142545 108142545 single base substitution A G intron_variant LIRI-JP 1 108142564 108142564 single base substitution C T downstream_gene_variant LIRI-JP 1 108142564 108142564 single base substitution C T intron_variant LIRI-JP 1 108143150 108143150 single base substitution T G downstream_gene_variant LIRI-JP 1 108143150 108143150 single base substitution T G intron_variant LIRI-JP 1 108143268 108143268 single base substitution C T downstream_gene_variant LIRI-JP 1 108143268 108143268 single base substitution C T intron_variant LIRI-JP 1 108143333 108143333 single base substitution G T downstream_gene_variant LIRI-JP 1 108143333 108143333 single base substitution G T intron_variant LIRI-JP 1 108143952 108143952 single base substitution T A downstream_gene_variant LIRI-JP 1 108143952 108143952 single base substitution T A intron_variant LIRI-JP 1 108144349 108144349 single base substitution G A downstream_gene_variant LIRI-JP 1 108144349 108144349 single base substitution G A intron_variant LIRI-JP 1 108144512 108144512 single base substitution A G downstream_gene_variant LIRI-JP 1 108144512 108144512 single base substitution A G intron_variant LIRI-JP 1 108145438 108145438 single base substitution A G downstream_gene_variant LIRI-JP 1 108145438 108145438 single base substitution A G intron_variant LIRI-JP 1 108145496 108145496 single base substitution T C downstream_gene_variant LIRI-JP 1 108145496 108145496 single base substitution T C intron_variant LIRI-JP 1 108148761 108148761 single base substitution T A downstream_gene_variant LIRI-JP 1 108148761 108148761 single base substitution T A intron_variant LIRI-JP 1 108148901 108148901 single base substitution T C downstream_gene_variant LIRI-JP 1 108148901 108148901 single base substitution T C intron_variant LIRI-JP 1 108149296 108149296 single base substitution A T downstream_gene_variant LIRI-JP 1 108149296 108149296 single base substitution A T intron_variant LIRI-JP 1 108149670 108149670 single base substitution G T downstream_gene_variant LIRI-JP 1 108149670 108149670 single base substitution G T intron_variant LIRI-JP 1 108150159 108150159 single base substitution C G downstream_gene_variant LIRI-JP 1 108150159 108150159 single base substitution C G intron_variant LIRI-JP 1 108150450 108150450 single base substitution A C downstream_gene_variant LIRI-JP 1 108150450 108150450 single base substitution A C intron_variant LIRI-JP 1 108150779 108150779 single base substitution A C downstream_gene_variant LIRI-JP 1 108150779 108150779 single base substitution A C intron_variant LIRI-JP 1 108150965 108150965 single base substitution C A downstream_gene_variant LIRI-JP 1 108150965 108150965 single base substitution C A intron_variant LIRI-JP 1 108152025 108152025 single base substitution A C downstream_gene_variant LIRI-JP 1 108152025 108152025 single base substitution A C intron_variant LIRI-JP 1 108152247 108152247 single base substitution G T downstream_gene_variant LIRI-JP 1 108152247 108152247 single base substitution G T intron_variant LIRI-JP 1 108152413 108152413 single base substitution T C downstream_gene_variant LIRI-JP 1 108152413 108152413 single base substitution T C intron_variant LIRI-JP 1 108152566 108152566 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 108152566 108152566 single base substitution A G exon_variant LIRI-JP 1 108152566 108152566 single base substitution A G missense_variant S108P 322T>C LIRI-JP 1 108152566 108152566 single base substitution A G missense_variant S668P 2002T>C LIRI-JP 1 108152566 108152566 single base substitution A G missense_variant S72P 214T>C LIRI-JP 1 108155913 108155913 single base substitution C A downstream_gene_variant LIRI-JP 1 108155913 108155913 single base substitution C A intron_variant LIRI-JP 1 108157066 108157066 single base substitution C T downstream_gene_variant LIRI-JP 1 108157066 108157066 single base substitution C T intron_variant LIRI-JP 1 108157337 108157337 single base substitution A G downstream_gene_variant LIRI-JP 1 108157337 108157337 single base substitution A G intron_variant LIRI-JP 1 108157367 108157367 single base substitution G C downstream_gene_variant LIRI-JP 1 108157367 108157367 single base substitution G C intron_variant LIRI-JP 1 108158110 108158110 single base substitution T C downstream_gene_variant LIRI-JP 1 108158110 108158110 single base substitution T C intron_variant LIRI-JP 1 108158173 108158173 single base substitution T G downstream_gene_variant LIRI-JP 1 108158173 108158173 single base substitution T G intron_variant LIRI-JP 1 108159557 108159557 single base substitution T C downstream_gene_variant LIRI-JP 1 108159557 108159557 single base substitution T C intron_variant LIRI-JP 1 108159705 108159705 single base substitution A T downstream_gene_variant LIRI-JP 1 108159705 108159705 single base substitution A T intron_variant LIRI-JP 1 108160304 108160304 single base substitution G A intron_variant LIRI-JP 1 108160353 108160353 single base substitution A C intron_variant LIRI-JP 1 108160449 108160449 single base substitution A T intron_variant LIRI-JP 1 108160457 108160457 single base substitution T A intron_variant LIRI-JP 1 108161232 108161232 single base substitution T C intron_variant LIRI-JP 1 108162574 108162574 single base substitution T C intron_variant LIRI-JP 1 108162627 108162627 single base substitution C T intron_variant LIRI-JP 1 108163080 108163080 single base substitution T A intron_variant LIRI-JP 1 108163296 108163296 single base substitution A G intron_variant LIRI-JP 1 108164572 108164572 single base substitution T C intron_variant LIRI-JP 1 108165559 108165559 single base substitution T A intron_variant LIRI-JP 1 108166174 108166174 single base substitution C G intron_variant LIRI-JP 1 108167984 108167984 single base substitution G T intron_variant LIRI-JP 1 108168182 108168182 single base substitution C T intron_variant LIRI-JP 1 108169129 108169129 single base substitution T A intron_variant LIRI-JP 1 108170024 108170024 single base substitution A C intron_variant LIRI-JP 1 108170233 108170233 single base substitution T G intron_variant LIRI-JP 1 108172181 108172181 single base substitution C T intron_variant LIRI-JP 1 108172194 108172194 single base substitution A G intron_variant LIRI-JP 1 108174023 108174023 single base substitution A C intron_variant LIRI-JP 1 108175307 108175307 single base substitution G T intron_variant LIRI-JP 1 108177874 108177874 single base substitution A C intron_variant LIRI-JP 1 108179465 108179465 single base substitution A G intron_variant LIRI-JP 1 108179841 108179841 single base substitution A T intron_variant LIRI-JP 1 108179876 108179876 single base substitution C A intron_variant LIRI-JP 1 108181382 108181382 single base substitution A G intron_variant LIRI-JP 1 108181752 108181752 single base substitution A G intron_variant LIRI-JP 1 108182313 108182313 single base substitution C T intron_variant LIRI-JP 1 108183342 108183342 single base substitution T A intron_variant LIRI-JP 1 108183769 108183769 single base substitution G A intron_variant LIRI-JP 1 108184949 108184949 single base substitution T A intron_variant LIRI-JP 1 108186392 108186392 single base substitution A G intron_variant LIRI-JP 1 108187036 108187036 single base substitution A G intron_variant LIRI-JP 1 108187066 108187066 deletion of <=200bp T - intron_variant LIRI-JP 1 108187728 108187728 single base substitution C T intron_variant LIRI-JP 1 108187832 108187832 single base substitution A G intron_variant LIRI-JP 1 108190636 108190636 single base substitution G A intron_variant LIRI-JP 1 108190770 108190770 single base substitution G T intron_variant LIRI-JP 1 108190825 108190825 single base substitution T C intron_variant LIRI-JP 1 108192009 108192009 single base substitution G T intron_variant LIRI-JP 1 108192857 108192857 single base substitution T C intron_variant LIRI-JP 1 108192986 108192986 single base substitution C A intron_variant LIRI-JP 1 108193451 108193451 single base substitution C T intron_variant LIRI-JP 1 108193955 108193955 single base substitution A G intron_variant LIRI-JP 1 108194108 108194108 single base substitution T G intron_variant LIRI-JP 1 108195283 108195283 single base substitution A G intron_variant LIRI-JP 1 108196325 108196325 single base substitution A G intron_variant LIRI-JP 1 108197695 108197695 single base substitution C A intron_variant LIRI-JP 1 108198141 108198141 single base substitution C A intron_variant LIRI-JP 1 108198712 108198712 single base substitution C G intron_variant LIRI-JP 1 108198818 108198818 single base substitution C A intron_variant LIRI-JP 1 108199907 108199907 single base substitution C A intron_variant LIRI-JP 1 108200214 108200214 single base substitution A G intron_variant LIRI-JP 1 108200252 108200252 single base substitution A G intron_variant LIRI-JP 1 108201958 108201958 single base substitution C T intron_variant LIRI-JP 1 108202023 108202023 single base substitution G T intron_variant LIRI-JP 1 108202056 108202056 single base substitution G C intron_variant LIRI-JP 1 108202176 108202176 single base substitution G T intron_variant LIRI-JP 1 108203491 108203491 single base substitution C G intron_variant LIRI-JP 1 108204415 108204415 single base substitution A G intron_variant LIRI-JP 1 108205235 108205235 single base substitution A C intron_variant LIRI-JP 1 108206359 108206359 single base substitution T C intron_variant LIRI-JP 1 108206946 108206946 single base substitution A G downstream_gene_variant LIRI-JP 1 108206946 108206946 single base substitution A G intron_variant LIRI-JP 1 108207508 108207508 single base substitution A C downstream_gene_variant LIRI-JP 1 108207508 108207508 single base substitution A C intron_variant LIRI-JP 1 108208047 108208047 single base substitution C G downstream_gene_variant LIRI-JP 1 108208047 108208047 single base substitution C G intron_variant LIRI-JP 1 108208740 108208740 single base substitution C T downstream_gene_variant LIRI-JP 1 108208740 108208740 single base substitution C T intron_variant LIRI-JP 1 108208774 108208774 single base substitution T G downstream_gene_variant LIRI-JP 1 108208774 108208774 single base substitution T G intron_variant LIRI-JP 1 108208788 108208788 single base substitution T C downstream_gene_variant LIRI-JP 1 108208788 108208788 single base substitution T C intron_variant LIRI-JP 1 108208859 108208859 single base substitution T A downstream_gene_variant LIRI-JP 1 108208859 108208859 single base substitution T A intron_variant LIRI-JP 1 108208991 108208991 single base substitution G T downstream_gene_variant LIRI-JP 1 108208991 108208991 single base substitution G T intron_variant LIRI-JP 1 108209483 108209483 single base substitution A G downstream_gene_variant LIRI-JP 1 108209483 108209483 single base substitution A G intron_variant LIRI-JP 1 108209772 108209772 single base substitution A G downstream_gene_variant LIRI-JP 1 108209772 108209772 single base substitution A G intron_variant LIRI-JP 1 108210056 108210056 single base substitution T C downstream_gene_variant LIRI-JP 1 108210056 108210056 single base substitution T C intron_variant LIRI-JP 1 108210101 108210101 single base substitution A T downstream_gene_variant LIRI-JP 1 108210101 108210101 single base substitution A T intron_variant LIRI-JP 1 108210131 108210131 single base substitution C A downstream_gene_variant LIRI-JP 1 108210131 108210131 single base substitution C A intron_variant LIRI-JP 1 108210205 108210205 single base substitution T C downstream_gene_variant LIRI-JP 1 108210205 108210205 single base substitution T C intron_variant LIRI-JP 1 108210813 108210813 single base substitution T C downstream_gene_variant LIRI-JP 1 108210813 108210813 single base substitution T C intron_variant LIRI-JP 1 108211188 108211188 single base substitution C A downstream_gene_variant LIRI-JP 1 108211188 108211188 single base substitution C A intron_variant LIRI-JP 1 108211432 108211432 single base substitution G T downstream_gene_variant LIRI-JP 1 108211432 108211432 single base substitution G T intron_variant LIRI-JP 1 108211836 108211836 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 108211836 108211836 single base substitution T C exon_variant LIRI-JP 1 108211836 108211836 single base substitution T C intron_variant LIRI-JP 1 108211904 108211904 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 108211904 108211904 single base substitution A T exon_variant LIRI-JP 1 108211904 108211904 single base substitution A T intron_variant LIRI-JP 1 108212202 108212202 single base substitution G A intron_variant LIRI-JP 1 108212380 108212389 deletion of <=200bp GAAGGCAGAA - intron_variant LIRI-JP 1 108213547 108213547 single base substitution T C intron_variant LIRI-JP 1 108213586 108213586 single base substitution T C intron_variant LIRI-JP 1 108214467 108214468 deletion of <=200bp TA - intron_variant LIRI-JP 1 108214575 108214575 single base substitution G T intron_variant LIRI-JP 1 108214862 108214862 single base substitution G A exon_variant LIRI-JP 1 108214862 108214862 single base substitution G A intron_variant LIRI-JP 1 108215383 108215383 single base substitution T A intron_variant LIRI-JP 1 108215603 108215603 single base substitution A G intron_variant LIRI-JP 1 108217914 108217914 single base substitution T G intron_variant LIRI-JP 1 108217914 108217914 single base substitution T G upstream_gene_variant LIRI-JP 1 108218812 108218812 single base substitution A G intron_variant LIRI-JP 1 108218812 108218812 single base substitution A G upstream_gene_variant LIRI-JP 1 108218975 108218975 single base substitution A G intron_variant LIRI-JP 1 108218975 108218975 single base substitution A G upstream_gene_variant LIRI-JP 1 108219028 108219028 single base substitution G A intron_variant LIRI-JP 1 108219028 108219028 single base substitution G A upstream_gene_variant LIRI-JP 1 108219245 108219245 single base substitution T A intron_variant LIRI-JP 1 108219245 108219245 single base substitution T A upstream_gene_variant LIRI-JP 1 108220271 108220271 single base substitution A G intron_variant LIRI-JP 1 108220271 108220271 single base substitution A G upstream_gene_variant LIRI-JP 1 108220292 108220292 single base substitution A G intron_variant LIRI-JP 1 108220292 108220292 single base substitution A G upstream_gene_variant LIRI-JP 1 108220431 108220431 single base substitution T C intron_variant LIRI-JP 1 108220431 108220431 single base substitution T C upstream_gene_variant LIRI-JP 1 108221157 108221157 single base substitution T A intron_variant LIRI-JP 1 108221157 108221157 single base substitution T A upstream_gene_variant LIRI-JP 1 108221386 108221386 single base substitution T A intron_variant LIRI-JP 1 108221386 108221386 single base substitution T A upstream_gene_variant LIRI-JP 1 108221409 108221409 single base substitution T G intron_variant LIRI-JP 1 108221409 108221409 single base substitution T G upstream_gene_variant LIRI-JP 1 108221560 108221560 single base substitution G A intron_variant LIRI-JP 1 108221560 108221560 single base substitution G A upstream_gene_variant LIRI-JP 1 108221613 108221613 single base substitution C T intron_variant LIRI-JP 1 108221613 108221613 single base substitution C T upstream_gene_variant LIRI-JP 1 108221631 108221631 single base substitution T C intron_variant LIRI-JP 1 108221631 108221631 single base substitution T C upstream_gene_variant LIRI-JP 1 108222139 108222139 deletion of <=200bp G - intron_variant LIRI-JP 1 108222139 108222139 deletion of <=200bp G - upstream_gene_variant LIRI-JP 1 108224362 108224362 single base substitution G T intron_variant LIRI-JP 1 108224362 108224362 single base substitution G T upstream_gene_variant LIRI-JP 1 108225053 108225053 single base substitution G T intron_variant LIRI-JP 1 108225053 108225053 single base substitution G T upstream_gene_variant LIRI-JP 1 108225071 108225071 single base substitution T C intron_variant LIRI-JP 1 108225071 108225071 single base substitution T C upstream_gene_variant LIRI-JP 1 108225326 108225326 single base substitution T C intron_variant LIRI-JP 1 108225326 108225326 single base substitution T C upstream_gene_variant LIRI-JP 1 108225542 108225542 single base substitution A G intron_variant LIRI-JP 1 108225542 108225542 single base substitution A G upstream_gene_variant LIRI-JP 1 108226189 108226189 single base substitution A T intron_variant LIRI-JP 1 108227912 108227912 single base substitution A C intron_variant LIRI-JP 1 108228845 108228845 single base substitution G A intron_variant LIRI-JP 1 108228845 108228845 single base substitution G A upstream_gene_variant LIRI-JP 1 108230062 108230062 single base substitution T C intron_variant LIRI-JP 1 108230062 108230062 single base substitution T C upstream_gene_variant LIRI-JP 1 108231039 108231039 single base substitution T C 5_prime_UTR_variant LIRI-JP 1 108231039 108231039 single base substitution T C exon_variant LIRI-JP 1 108231039 108231039 single base substitution T C intron_variant LIRI-JP 1 108231039 108231039 single base substitution T C synonymous_variant T5T 15A>G LIRI-JP 1 108231039 108231039 single base substitution T C upstream_gene_variant LIRI-JP 1 108231942 108231942 single base substitution G A intron_variant LIRI-JP 1 108231942 108231942 single base substitution G A upstream_gene_variant LIRI-JP 1 108233123 108233123 single base substitution G T intron_variant LIRI-JP 1 108233123 108233123 single base substitution G T upstream_gene_variant LIRI-JP 1 108233124 108233124 single base substitution A T intron_variant LIRI-JP 1 108233124 108233124 single base substitution A T upstream_gene_variant LIRI-JP 1 108233128 108233128 single base substitution C A intron_variant LIRI-JP 1 108233128 108233128 single base substitution C A upstream_gene_variant LIRI-JP 1 108233448 108233448 single base substitution G A intron_variant LIRI-JP 1 108233448 108233448 single base substitution G A upstream_gene_variant LIRI-JP 1 108235042 108235042 single base substitution A T intron_variant LIRI-JP 1 108235042 108235042 single base substitution A T upstream_gene_variant LIRI-JP 1 108235286 108235286 single base substitution C A intron_variant LIRI-JP 1 108235286 108235286 single base substitution C A upstream_gene_variant LIRI-JP 1 108235688 108235688 single base substitution C T intron_variant LIRI-JP 1 108235688 108235688 single base substitution C T upstream_gene_variant LIRI-JP 1 108236032 108236032 single base substitution A G intron_variant LIRI-JP 1 108236032 108236032 single base substitution A G upstream_gene_variant LIRI-JP 1 108236369 108236369 single base substitution C G intron_variant LIRI-JP 1 108237286 108237286 single base substitution A G intron_variant LIRI-JP 1 108237710 108237710 single base substitution A C intron_variant LIRI-JP 1 108239200 108239200 single base substitution G A intron_variant LIRI-JP 1 108239953 108239953 single base substitution G T intron_variant LIRI-JP 1 108241119 108241119 single base substitution A G intron_variant LIRI-JP 1 108241215 108241215 single base substitution C A intron_variant LIRI-JP 1 108241504 108241504 single base substitution G A intron_variant LIRI-JP 1 108242543 108242543 single base substitution C G intron_variant LIRI-JP 1 108244615 108244615 single base substitution G A intron_variant LIRI-JP 1 108244649 108244649 single base substitution C A intron_variant LIRI-JP 1 108244982 108244982 single base substitution C T intron_variant LIRI-JP 1 108245323 108245323 single base substitution G T intron_variant LIRI-JP 1 108245470 108245470 single base substitution T C intron_variant LIRI-JP 1 108246881 108246881 single base substitution T C intron_variant LIRI-JP 1 108247128 108247128 single base substitution A G intron_variant LIRI-JP 1 108247484 108247484 single base substitution C A intron_variant LIRI-JP 1 108248943 108248943 single base substitution C A intron_variant LIRI-JP 1 108250099 108250099 single base substitution T C intron_variant LIRI-JP 1 108250152 108250152 single base substitution A C intron_variant LIRI-JP 1 108250462 108250462 single base substitution G T intron_variant LIRI-JP 1 108251006 108251006 single base substitution T G intron_variant LIRI-JP 1 108252831 108252831 single base substitution T A intron_variant LIRI-JP 1 108253926 108253926 single base substitution T A intron_variant LIRI-JP 1 108254278 108254278 single base substitution T A intron_variant LIRI-JP 1 108254971 108254971 single base substitution G A intron_variant LIRI-JP 1 108255880 108255880 single base substitution G A intron_variant LIRI-JP 1 108256224 108256224 single base substitution C G intron_variant LIRI-JP 1 108256697 108256697 single base substitution C A intron_variant LIRI-JP 1 108256979 108256979 single base substitution A G intron_variant LIRI-JP 1 108256984 108256984 single base substitution C A intron_variant LIRI-JP 1 108257054 108257054 single base substitution C A intron_variant LIRI-JP 1 108257060 108257060 single base substitution G T intron_variant LIRI-JP 1 108257332 108257332 single base substitution T C intron_variant LIRI-JP 1 108258244 108258244 single base substitution A G intron_variant LIRI-JP 1 108258364 108258364 single base substitution C A intron_variant LIRI-JP 1 108259210 108259210 single base substitution T C intron_variant LIRI-JP 1 108259327 108259327 single base substitution T C intron_variant LIRI-JP 1 108259568 108259568 single base substitution A T intron_variant LIRI-JP 1 108259773 108259773 single base substitution G T intron_variant LIRI-JP 1 108260392 108260392 single base substitution T G intron_variant LIRI-JP 1 108261153 108261153 single base substitution C G intron_variant LIRI-JP 1 108262770 108262770 single base substitution A T intron_variant LIRI-JP 1 108262894 108262894 single base substitution A G intron_variant LIRI-JP 1 108263182 108263182 single base substitution C T intron_variant LIRI-JP 1 108263183 108263183 single base substitution C A intron_variant LIRI-JP 1 108264509 108264509 single base substitution G C intron_variant LIRI-JP 1 108264952 108264952 single base substitution A T intron_variant LIRI-JP 1 108264983 108264983 single base substitution T A intron_variant LIRI-JP 1 108265257 108265257 single base substitution G T intron_variant LIRI-JP 1 108265555 108265555 single base substitution A G intron_variant LIRI-JP 1 108265730 108265730 single base substitution A G intron_variant LIRI-JP 1 108265765 108265765 single base substitution G A intron_variant LIRI-JP 1 108265999 108265999 single base substitution C A intron_variant LIRI-JP 1 108267362 108267362 single base substitution T C intron_variant LIRI-JP 1 108267489 108267489 single base substitution C T intron_variant LIRI-JP 1 108268939 108268939 single base substitution G C intron_variant LIRI-JP 1 108269238 108269238 single base substitution C T intron_variant LIRI-JP 1 108269761 108269761 single base substitution A G intron_variant LIRI-JP 1 108270261 108270261 single base substitution A G intron_variant LIRI-JP 1 108270654 108270654 single base substitution A T intron_variant LIRI-JP 1 108270672 108270672 single base substitution G A intron_variant LIRI-JP 1 108270745 108270745 single base substitution A T intron_variant LIRI-JP 1 108271345 108271345 single base substitution A G intron_variant LIRI-JP 1 108271785 108271785 deletion of <=200bp A - intron_variant LIRI-JP 1 108273106 108273106 single base substitution C A intron_variant LIRI-JP 1 108274066 108274066 single base substitution C T intron_variant LIRI-JP 1 108274931 108274931 single base substitution G A intron_variant LIRI-JP 1 108275801 108275801 single base substitution G C intron_variant LIRI-JP 1 108276127 108276127 single base substitution C T intron_variant LIRI-JP 1 108276881 108276881 single base substitution C T intron_variant LIRI-JP 1 108277114 108277114 single base substitution C A intron_variant LIRI-JP 1 108278780 108278780 single base substitution T C intron_variant LIRI-JP 1 108281241 108281241 single base substitution C G intron_variant LIRI-JP 1 108281695 108281695 single base substitution A G intron_variant LIRI-JP 1 108283068 108283068 single base substitution T C intron_variant LIRI-JP 1 108284116 108284116 single base substitution T G intron_variant LIRI-JP 1 108285010 108285010 single base substitution G A intron_variant LIRI-JP 1 108285092 108285092 deletion of <=200bp A - intron_variant LIRI-JP 1 108285523 108285523 single base substitution G A intron_variant LIRI-JP 1 108285715 108285715 single base substitution A G intron_variant LIRI-JP 1 108286214 108286214 single base substitution G T intron_variant LIRI-JP 1 108286819 108286819 single base substitution G T intron_variant LIRI-JP 1 108287458 108287458 single base substitution C A intron_variant LIRI-JP 1 108287588 108287588 single base substitution C T intron_variant LIRI-JP 1 108288900 108288900 single base substitution A G intron_variant LIRI-JP 1 108289625 108289625 single base substitution G T intron_variant LIRI-JP 1 108289899 108289899 single base substitution G A intron_variant LIRI-JP 1 108289998 108289998 single base substitution A G intron_variant LIRI-JP 1 108290208 108290208 single base substitution G T intron_variant LIRI-JP 1 108291197 108291197 single base substitution T C intron_variant LIRI-JP 1 108291848 108291848 single base substitution T C intron_variant LIRI-JP 1 108292205 108292205 single base substitution A G exon_variant LIRI-JP 1 108292205 108292205 single base substitution A G missense_variant L359S 1076T>C LIRI-JP 1 108292205 108292205 single base substitution A G missense_variant L418S 1253T>C LIRI-JP 1 108292205 108292205 single base substitution A G missense_variant L424S 1271T>C LIRI-JP 1 108292205 108292205 single base substitution A G upstream_gene_variant LIRI-JP 1 108292520 108292520 single base substitution T C intron_variant LIRI-JP 1 108292520 108292520 single base substitution T C upstream_gene_variant LIRI-JP 1 108292760 108292760 single base substitution C G intron_variant LIRI-JP 1 108292760 108292760 single base substitution C G upstream_gene_variant LIRI-JP 1 108293341 108293341 single base substitution A G intron_variant LIRI-JP 1 108293341 108293341 single base substitution A G upstream_gene_variant LIRI-JP 1 108293982 108293982 single base substitution T C intron_variant LIRI-JP 1 108293982 108293982 single base substitution T C upstream_gene_variant LIRI-JP 1 108294716 108294716 single base substitution A G intron_variant LIRI-JP 1 108294716 108294716 single base substitution A G upstream_gene_variant LIRI-JP 1 108294869 108294869 single base substitution C A intron_variant LIRI-JP 1 108294869 108294869 single base substitution C A upstream_gene_variant LIRI-JP 1 108295081 108295081 single base substitution A G intron_variant LIRI-JP 1 108295081 108295081 single base substitution A G upstream_gene_variant LIRI-JP 1 108295529 108295529 single base substitution T A intron_variant LIRI-JP 1 108295529 108295529 single base substitution T A upstream_gene_variant LIRI-JP 1 108296541 108296541 single base substitution C T intron_variant LIRI-JP 1 108296541 108296541 single base substitution C T upstream_gene_variant LIRI-JP 1 108296871 108296871 single base substitution A G intron_variant LIRI-JP 1 108296871 108296871 single base substitution A G upstream_gene_variant LIRI-JP 1 108297271 108297271 single base substitution T C intron_variant LIRI-JP 1 108297454 108297454 single base substitution C T intron_variant LIRI-JP 1 108298169 108298169 single base substitution C T intron_variant LIRI-JP 1 108298661 108298661 deletion of <=200bp C - intron_variant LIRI-JP 1 108299249 108299249 single base substitution C T intron_variant LIRI-JP 1 108299882 108299882 single base substitution C G splice_donor_variant LIRI-JP 1 108300236 108300236 single base substitution C T intron_variant LIRI-JP 1 108300452 108300452 single base substitution T G intron_variant LIRI-JP 1 108300689 108300689 single base substitution C A intron_variant LIRI-JP 1 108301278 108301278 single base substitution G T intron_variant LIRI-JP 1 108301346 108301346 single base substitution C T intron_variant LIRI-JP 1 108301419 108301419 single base substitution A G intron_variant LIRI-JP 1 108301461 108301461 single base substitution A G intron_variant LIRI-JP 1 108301556 108301556 single base substitution T C intron_variant LIRI-JP 1 108301727 108301727 single base substitution A G intron_variant LIRI-JP 1 108301728 108301728 single base substitution C T intron_variant LIRI-JP 1 108301980 108301980 single base substitution C T intron_variant LIRI-JP 1 108302390 108302390 single base substitution T C intron_variant LIRI-JP 1 108302623 108302623 single base substitution A T intron_variant LIRI-JP 1 108303067 108303067 single base substitution T C intron_variant LIRI-JP 1 108303941 108303941 single base substitution G T intron_variant LIRI-JP 1 108303958 108303958 single base substitution T C intron_variant LIRI-JP 1 108303959 108303959 single base substitution G A intron_variant LIRI-JP 1 108306475 108306475 single base substitution A T downstream_gene_variant LIRI-JP 1 108306475 108306475 single base substitution A T intron_variant LIRI-JP 1 108306534 108306534 single base substitution T C downstream_gene_variant LIRI-JP 1 108306534 108306534 single base substitution T C intron_variant LIRI-JP 1 108307120 108307120 single base substitution A G downstream_gene_variant LIRI-JP 1 108307120 108307120 single base substitution A G intron_variant LIRI-JP 1 108307630 108307630 single base substitution C T downstream_gene_variant LIRI-JP 1 108307630 108307630 single base substitution C T intron_variant LIRI-JP 1 108307842 108307842 single base substitution A C downstream_gene_variant LIRI-JP 1 108307842 108307842 single base substitution A C intron_variant LIRI-JP 1 108310623 108310623 single base substitution A C downstream_gene_variant LIRI-JP 1 108310623 108310623 single base substitution A C intron_variant LIRI-JP 1 108310780 108310780 single base substitution T A downstream_gene_variant LIRI-JP 1 108310780 108310780 single base substitution T A intron_variant LIRI-JP 1 108311662 108311662 single base substitution C A downstream_gene_variant LIRI-JP 1 108311662 108311662 single base substitution C A intron_variant LIRI-JP 1 108311958 108311958 single base substitution A G downstream_gene_variant LIRI-JP 1 108311958 108311958 single base substitution A G intron_variant LIRI-JP 1 108312476 108312476 single base substitution T A downstream_gene_variant LIRI-JP 1 108312476 108312476 single base substitution T A intron_variant LIRI-JP 1 108315102 108315102 single base substitution G T intron_variant LIRI-JP 1 108315727 108315727 single base substitution A G intron_variant LIRI-JP 1 108315956 108315956 single base substitution A G intron_variant LIRI-JP 1 108316640 108316640 single base substitution C G intron_variant LIRI-JP 1 108319913 108319913 single base substitution A G exon_variant LIRI-JP 1 108319913 108319913 single base substitution A G missense_variant F123S 368T>C LIRI-JP 1 108319913 108319913 single base substitution A G missense_variant F129S 386T>C LIRI-JP 1 108319913 108319913 single base substitution A G missense_variant F64S 191T>C LIRI-JP 1 108320941 108320941 single base substitution T C intron_variant LIRI-JP 1 108321054 108321057 deletion of <=200bp ATAT - intron_variant LIRI-JP 1 108321489 108321489 single base substitution A C intron_variant LIRI-JP 1 108322402 108322402 single base substitution C A intron_variant LIRI-JP 1 108322441 108322441 single base substitution G A intron_variant LIRI-JP 1 108322620 108322620 single base substitution C T intron_variant LIRI-JP 1 108322757 108322757 single base substitution A G intron_variant LIRI-JP 1 108322832 108322832 single base substitution C T intron_variant LIRI-JP 1 108325006 108325006 single base substitution A T intron_variant LIRI-JP 1 108325241 108325241 single base substitution A C intron_variant LIRI-JP 1 108328385 108328385 single base substitution G A intron_variant LIRI-JP 1 108328385 108328385 single base substitution G A upstream_gene_variant LIRI-JP 1 108328434 108328434 single base substitution A T intron_variant LIRI-JP 1 108328434 108328434 single base substitution A T upstream_gene_variant LIRI-JP 1 108328839 108328839 single base substitution G T intron_variant LIRI-JP 1 108328839 108328839 single base substitution G T upstream_gene_variant LIRI-JP 1 108329096 108329096 single base substitution C A intron_variant LIRI-JP 1 108329096 108329096 single base substitution C A upstream_gene_variant LIRI-JP 1 108329842 108329842 single base substitution C G intron_variant LIRI-JP 1 108329842 108329842 single base substitution C G upstream_gene_variant LIRI-JP 1 108330527 108330527 single base substitution G T intron_variant LIRI-JP 1 108330527 108330527 single base substitution G T upstream_gene_variant LIRI-JP 1 108330552 108330552 single base substitution T G intron_variant LIRI-JP 1 108330552 108330552 single base substitution T G upstream_gene_variant LIRI-JP 1 108330652 108330652 single base substitution C A intron_variant LIRI-JP 1 108330652 108330652 single base substitution C A upstream_gene_variant LIRI-JP 1 108331301 108331301 single base substitution G C intron_variant LIRI-JP 1 108331301 108331301 single base substitution G C upstream_gene_variant LIRI-JP 1 108331305 108331305 single base substitution A T intron_variant LIRI-JP 1 108331305 108331305 single base substitution A T upstream_gene_variant LIRI-JP 1 108332473 108332473 single base substitution A G intron_variant LIRI-JP 1 108332473 108332473 single base substitution A G upstream_gene_variant LIRI-JP 1 108332652 108332652 single base substitution C T intron_variant LIRI-JP 1 108332652 108332652 single base substitution C T upstream_gene_variant LIRI-JP 1 108332697 108332697 single base substitution A G intron_variant LIRI-JP 1 108332697 108332697 single base substitution A G upstream_gene_variant LIRI-JP 1 108332786 108332786 single base substitution A C intron_variant LIRI-JP 1 108332786 108332786 single base substitution A C upstream_gene_variant LIRI-JP 1 108332803 108332803 single base substitution A G intron_variant LIRI-JP 1 108332803 108332803 single base substitution A G upstream_gene_variant LIRI-JP 1 108332959 108332959 single base substitution A C intron_variant LIRI-JP 1 108332959 108332959 single base substitution A C upstream_gene_variant LIRI-JP 1 108334620 108334620 single base substitution A C intron_variant LIRI-JP 1 108335516 108335516 single base substitution T A intron_variant LIRI-JP 1 108335517 108335517 single base substitution A T intron_variant LIRI-JP 1 108337823 108337823 single base substitution T C intron_variant LIRI-JP 1 108338091 108338091 single base substitution T C intron_variant LIRI-JP 1 108339575 108339575 single base substitution G T intron_variant LIRI-JP 1 108339626 108339626 single base substitution T A intron_variant LIRI-JP 1 108340393 108340393 single base substitution T G intron_variant LIRI-JP 1 108340431 108340431 single base substitution C T intron_variant LIRI-JP 1 108340449 108340449 single base substitution C A intron_variant LIRI-JP 1 108340674 108340674 single base substitution C A intron_variant LIRI-JP 1 108341323 108341323 single base substitution A G intron_variant LIRI-JP 1 108343003 108343003 single base substitution G A intron_variant LIRI-JP 1 108343173 108343173 single base substitution G T intron_variant LIRI-JP 1 108343295 108343295 single base substitution C A intron_variant LIRI-JP 1 108344146 108344146 single base substitution A G intron_variant LIRI-JP 1 108344180 108344180 single base substitution T A intron_variant LIRI-JP 1 108344231 108344231 single base substitution T G intron_variant LIRI-JP 1 108346066 108346066 single base substitution A G intron_variant LIRI-JP 1 108346321 108346321 single base substitution T G intron_variant LIRI-JP 1 108348333 108348333 single base substitution T C intron_variant LIRI-JP 1 108348496 108348496 single base substitution T C intron_variant LIRI-JP 1 108348701 108348701 single base substitution C G intron_variant LIRI-JP 1 108349457 108349457 single base substitution T C intron_variant LIRI-JP 1 108349672 108349672 single base substitution T C intron_variant LIRI-JP 1 108350185 108350185 single base substitution T A intron_variant LIRI-JP 1 108350633 108350633 single base substitution A G intron_variant LIRI-JP 1 108351066 108351066 single base substitution T C intron_variant LIRI-JP 1 108351449 108351449 single base substitution T A intron_variant LIRI-JP 1 108352130 108352130 insertion of <=200bp - TTTT intron_variant LIRI-JP 1 108352426 108352426 single base substitution C T intron_variant LIRI-JP 1 108353459 108353459 single base substitution C T intron_variant LIRI-JP 1 108353503 108353503 single base substitution A G intron_variant LIRI-JP 1 108353555 108353555 single base substitution G C intron_variant LIRI-JP 1 108353684 108353684 single base substitution G T intron_variant LIRI-JP 1 108354843 108354843 single base substitution T C intron_variant LIRI-JP 1 108354925 108354925 single base substitution T C intron_variant LIRI-JP 1 108355636 108355636 single base substitution T G intron_variant LIRI-JP 1 108355860 108355860 single base substitution A C intron_variant LIRI-JP 1 108358217 108358217 single base substitution A T intron_variant LIRI-JP 1 108358384 108358384 single base substitution C G intron_variant LIRI-JP 1 108358844 108358844 single base substitution T C intron_variant LIRI-JP 1 108359986 108359986 single base substitution C T intron_variant LIRI-JP 1 108360629 108360629 single base substitution G A intron_variant LIRI-JP 1 108361345 108361345 single base substitution A T intron_variant LIRI-JP 1 108361817 108361817 single base substitution T G intron_variant LIRI-JP 1 108363573 108363573 single base substitution A C intron_variant LIRI-JP 1 108363573 108363573 single base substitution A C upstream_gene_variant LIRI-JP 1 108363838 108363838 single base substitution T C intron_variant LIRI-JP 1 108363838 108363838 single base substitution T C upstream_gene_variant LIRI-JP 1 108364054 108364054 single base substitution T A intron_variant LIRI-JP 1 108364054 108364054 single base substitution T A upstream_gene_variant LIRI-JP 1 108364082 108364082 single base substitution T A intron_variant LIRI-JP 1 108364082 108364082 single base substitution T A upstream_gene_variant LIRI-JP 1 108365780 108365780 single base substitution A G intron_variant LIRI-JP 1 108365780 108365780 single base substitution A G upstream_gene_variant LIRI-JP 1 108366036 108366036 single base substitution C T intron_variant LIRI-JP 1 108366036 108366036 single base substitution C T upstream_gene_variant LIRI-JP 1 108366056 108366056 single base substitution C A intron_variant LIRI-JP 1 108366056 108366056 single base substitution C A upstream_gene_variant LIRI-JP 1 108366508 108366508 single base substitution C A intron_variant LIRI-JP 1 108366508 108366508 single base substitution C A upstream_gene_variant LIRI-JP 1 108366980 108366980 single base substitution G T intron_variant LIRI-JP 1 108366980 108366980 single base substitution G T upstream_gene_variant LIRI-JP 1 108367166 108367166 single base substitution C A intron_variant LIRI-JP 1 108367166 108367166 single base substitution C A upstream_gene_variant LIRI-JP 1 108367377 108367377 single base substitution A G intron_variant LIRI-JP 1 108367377 108367377 single base substitution A G upstream_gene_variant LIRI-JP 1 108367793 108367793 single base substitution C T intron_variant LIRI-JP 1 108367793 108367793 single base substitution C T upstream_gene_variant LIRI-JP 1 108368461 108368461 single base substitution G A intron_variant LIRI-JP 1 108368461 108368461 single base substitution G A upstream_gene_variant LIRI-JP 1 108368899 108368899 single base substitution A G intron_variant LIRI-JP 1 108369108 108369108 single base substitution T C intron_variant LIRI-JP 1 108371410 108371410 single base substitution C T intron_variant LIRI-JP 1 108371732 108371732 single base substitution C A intron_variant LIRI-JP 1 108372439 108372439 single base substitution A G intron_variant LIRI-JP 1 108373224 108373224 single base substitution G T intron_variant LIRI-JP 1 108373289 108373289 single base substitution T A intron_variant LIRI-JP 1 108373458 108373458 single base substitution T C intron_variant LIRI-JP 1 108373516 108373516 single base substitution T C intron_variant LIRI-JP 1 108373597 108373597 deletion of <=200bp A - intron_variant LIRI-JP 1 108374271 108374271 single base substitution T A intron_variant LIRI-JP 1 108374273 108374273 single base substitution G T intron_variant LIRI-JP 1 108374733 108374733 single base substitution A T intron_variant LIRI-JP 1 108374762 108374762 single base substitution G A intron_variant LIRI-JP 1 108374894 108374894 single base substitution T C intron_variant LIRI-JP 1 108375191 108375191 single base substitution A G intron_variant LIRI-JP 1 108375354 108375354 single base substitution C T intron_variant LIRI-JP 1 108375728 108375728 single base substitution A G intron_variant LIRI-JP 1 108375906 108375906 single base substitution T G intron_variant LIRI-JP 1 108375907 108375907 single base substitution C A intron_variant LIRI-JP 1 108376783 108376783 single base substitution C T intron_variant LIRI-JP 1 108378853 108378853 single base substitution C G intron_variant LIRI-JP 1 108379469 108379469 single base substitution C T intron_variant LIRI-JP 1 108379537 108379537 single base substitution A G intron_variant LIRI-JP 1 108379729 108379729 single base substitution A C intron_variant LIRI-JP 1 108380289 108380289 single base substitution A G intron_variant LIRI-JP 1 108380542 108380542 single base substitution C A intron_variant LIRI-JP 1 108380928 108380928 single base substitution G A intron_variant LIRI-JP 1 108381006 108381006 single base substitution A G intron_variant LIRI-JP 1 108381813 108381813 single base substitution C T intron_variant LIRI-JP 1 108382554 108382554 single base substitution A T intron_variant LIRI-JP 1 108382705 108382705 single base substitution T C intron_variant LIRI-JP 1 108383026 108383026 single base substitution A G intron_variant LIRI-JP 1 108384280 108384280 deletion of <=200bp T - intron_variant LIRI-JP 1 108385667 108385667 single base substitution A G intron_variant LIRI-JP 1 108386041 108386041 single base substitution T C intron_variant LIRI-JP 1 108386562 108386562 single base substitution T C intron_variant LIRI-JP 1 108386897 108386897 single base substitution G A intron_variant LIRI-JP 1 108387114 108387114 single base substitution G A intron_variant LIRI-JP 1 108387516 108387516 single base substitution G A intron_variant LIRI-JP 1 108388030 108388030 single base substitution A G intron_variant LIRI-JP 1 108388090 108388090 single base substitution T C intron_variant LIRI-JP 1 108388206 108388206 single base substitution C A intron_variant LIRI-JP 1 108388853 108388853 single base substitution T C intron_variant LIRI-JP 1 108390016 108390016 single base substitution C G intron_variant LIRI-JP 1 108390605 108390605 single base substitution T A intron_variant LIRI-JP 1 108392130 108392130 single base substitution G T intron_variant LIRI-JP 1 108393685 108393685 single base substitution C G intron_variant LIRI-JP 1 108395610 108395610 single base substitution G T intron_variant LIRI-JP 1 108397134 108397134 single base substitution A G intron_variant LIRI-JP 1 108397552 108397552 single base substitution T A intron_variant LIRI-JP 1 108398350 108398350 single base substitution G A intron_variant LIRI-JP 1 108398979 108398979 single base substitution A G intron_variant LIRI-JP 1 108399112 108399112 single base substitution C T intron_variant LIRI-JP 1 108399235 108399235 deletion of <=200bp A - intron_variant LIRI-JP 1 108399428 108399428 single base substitution G C intron_variant LIRI-JP 1 108400191 108400191 single base substitution C G intron_variant LIRI-JP 1 108400961 108400961 single base substitution A G intron_variant LIRI-JP 1 108401464 108401464 single base substitution G T intron_variant LIRI-JP 1 108401488 108401488 single base substitution T C intron_variant LIRI-JP 1 108402980 108402980 single base substitution A G intron_variant LIRI-JP 1 108403096 108403096 single base substitution T C intron_variant LIRI-JP 1 108403139 108403139 single base substitution C T intron_variant LIRI-JP 1 108403288 108403288 single base substitution T C intron_variant LIRI-JP 1 108404330 108404330 single base substitution A T intron_variant LIRI-JP 1 108406706 108406706 single base substitution C A intron_variant LIRI-JP 1 108406847 108406847 single base substitution A C intron_variant LIRI-JP 1 108407706 108407706 single base substitution A C intron_variant LIRI-JP 1 108407902 108407902 single base substitution G T intron_variant LIRI-JP 1 108407962 108407962 single base substitution A T intron_variant LIRI-JP 1 108408321 108408321 single base substitution T G intron_variant LIRI-JP 1 108408348 108408348 single base substitution G A intron_variant LIRI-JP 1 108408433 108408433 single base substitution G A intron_variant LIRI-JP 1 108410590 108410590 deletion of <=200bp A - intron_variant LIRI-JP 1 108410788 108410788 single base substitution C A intron_variant LIRI-JP 1 108411027 108411027 single base substitution A T intron_variant LIRI-JP 1 108411558 108411558 single base substitution T C intron_variant LIRI-JP 1 108412159 108412159 single base substitution G T intron_variant LIRI-JP 1 108412538 108412538 single base substitution T C intron_variant LIRI-JP 1 108413116 108413116 single base substitution T G intron_variant LIRI-JP 1 108413318 108413318 single base substitution G A intron_variant LIRI-JP 1 108413538 108413538 single base substitution G A intron_variant LIRI-JP 1 108413765 108413765 single base substitution A G intron_variant LIRI-JP 1 108413963 108413963 single base substitution C A intron_variant LIRI-JP 1 108414317 108414317 single base substitution T C intron_variant LIRI-JP 1 108414352 108414352 deletion of <=200bp A - intron_variant LIRI-JP 1 108414825 108414825 single base substitution C T intron_variant LIRI-JP 1 108415128 108415128 single base substitution G T intron_variant LIRI-JP 1 108415142 108415142 single base substitution C T intron_variant LIRI-JP 1 108415328 108415328 single base substitution G C intron_variant LIRI-JP 1 108415627 108415627 single base substitution G A intron_variant LIRI-JP 1 108415745 108415745 single base substitution C A intron_variant LIRI-JP 1 108415936 108415936 single base substitution A T intron_variant LIRI-JP 1 108416136 108416136 single base substitution A G intron_variant LIRI-JP 1 108416206 108416206 single base substitution G A intron_variant LIRI-JP 1 108416216 108416216 single base substitution C A intron_variant LIRI-JP 1 108417364 108417364 single base substitution T G intron_variant LIRI-JP 1 108417621 108417621 single base substitution T A exon_variant LIRI-JP 1 108417621 108417621 single base substitution T A missense_variant I10L 28A>T LIRI-JP 1 108417621 108417621 single base substitution T A missense_variant I69L 205A>T LIRI-JP 1 108417621 108417621 single base substitution T A missense_variant I75L 223A>T LIRI-JP 1 108417626 108417626 single base substitution T C exon_variant LIRI-JP 1 108417626 108417626 single base substitution T C missense_variant K67R 200A>G LIRI-JP 1 108417626 108417626 single base substitution T C missense_variant K73R 218A>G LIRI-JP 1 108417626 108417626 single base substitution T C missense_variant K8R 23A>G LIRI-JP 1 108418111 108418111 single base substitution C T intron_variant LIRI-JP 1 108418225 108418225 single base substitution G T intron_variant LIRI-JP 1 108418311 108418311 single base substitution G A intron_variant LIRI-JP 1 108418443 108418443 single base substitution G T intron_variant LIRI-JP 1 108418523 108418523 single base substitution G C intron_variant LIRI-JP 1 108419206 108419206 single base substitution A T intron_variant LIRI-JP 1 108420015 108420015 single base substitution G T intron_variant LIRI-JP 1 108420419 108420419 single base substitution T G intron_variant LIRI-JP 1 108420547 108420547 single base substitution C T intron_variant LIRI-JP 1 108420600 108420600 single base substitution A G intron_variant LIRI-JP 1 108420788 108420788 single base substitution T C intron_variant LIRI-JP 1 108420789 108420789 single base substitution A C intron_variant LIRI-JP 1 108421382 108421382 single base substitution A G intron_variant LIRI-JP 1 108421897 108421897 single base substitution G C intron_variant LIRI-JP 1 108422368 108422368 single base substitution T C intron_variant LIRI-JP 1 108422671 108422671 single base substitution A G intron_variant LIRI-JP 1 108422675 108422675 single base substitution T A intron_variant LIRI-JP 1 108422785 108422785 single base substitution C G intron_variant LIRI-JP 1 108424529 108424529 single base substitution C A intron_variant LIRI-JP 1 108425429 108425429 single base substitution A T intron_variant LIRI-JP 1 108426035 108426035 single base substitution C G intron_variant LIRI-JP 1 108426436 108426436 single base substitution C A intron_variant LIRI-JP 1 108426791 108426791 single base substitution G A intron_variant LIRI-JP 1 108427295 108427295 single base substitution C T intron_variant LIRI-JP 1 108428427 108428427 single base substitution A G intron_variant LIRI-JP 1 108429346 108429346 single base substitution T A intron_variant LIRI-JP 1 108429744 108429744 single base substitution A T intron_variant LIRI-JP 1 108430601 108430601 single base substitution G A intron_variant LIRI-JP 1 108431052 108431052 single base substitution G T intron_variant LIRI-JP 1 108431235 108431235 single base substitution C T intron_variant LIRI-JP 1 108432333 108432333 single base substitution C T intron_variant LIRI-JP 1 108432414 108432414 single base substitution C T intron_variant LIRI-JP 1 108432574 108432574 single base substitution A C intron_variant LIRI-JP 1 108432704 108432704 single base substitution A G intron_variant LIRI-JP 1 108432949 108432949 single base substitution A T intron_variant LIRI-JP 1 108433325 108433325 single base substitution T C intron_variant LIRI-JP 1 108433647 108433647 single base substitution T C intron_variant LIRI-JP 1 108434687 108434687 single base substitution C T intron_variant LIRI-JP 1 108435270 108435271 deletion of <=200bp TA - intron_variant LIRI-JP 1 108435304 108435305 deletion of <=200bp AT - intron_variant LIRI-JP 1 108435427 108435427 single base substitution A G intron_variant LIRI-JP 1 108436072 108436072 single base substitution A G intron_variant LIRI-JP 1 108436221 108436221 single base substitution T C intron_variant LIRI-JP 1 108436322 108436322 single base substitution A G intron_variant LIRI-JP 1 108436492 108436492 single base substitution T C intron_variant LIRI-JP 1 108437397 108437397 single base substitution T C intron_variant LIRI-JP 1 108437424 108437424 single base substitution A C intron_variant LIRI-JP 1 108437758 108437758 single base substitution C G intron_variant LIRI-JP 1 108439585 108439585 single base substitution A T intron_variant LIRI-JP 1 108440174 108440174 single base substitution C A intron_variant LIRI-JP 1 108440690 108440690 single base substitution A G intron_variant LIRI-JP 1 108441281 108441281 single base substitution A T intron_variant LIRI-JP 1 108441928 108441928 single base substitution C A intron_variant LIRI-JP 1 108442107 108442107 single base substitution C T intron_variant LIRI-JP 1 108443191 108443191 single base substitution T C intron_variant LIRI-JP 1 108443352 108443352 single base substitution A G intron_variant LIRI-JP 1 108445085 108445085 single base substitution T C intron_variant LIRI-JP 1 108446670 108446670 single base substitution T C intron_variant LIRI-JP 1 108446786 108446786 single base substitution C A intron_variant LIRI-JP 1 108447169 108447169 single base substitution A G intron_variant LIRI-JP 1 108447182 108447182 single base substitution C T intron_variant LIRI-JP 1 108447617 108447617 single base substitution C T intron_variant LIRI-JP 1 108448029 108448029 single base substitution A G intron_variant LIRI-JP 1 108448635 108448635 single base substitution T C intron_variant LIRI-JP 1 108449062 108449062 single base substitution G A intron_variant LIRI-JP 1 108449439 108449439 single base substitution G T intron_variant LIRI-JP 1 108449524 108449524 single base substitution T G intron_variant LIRI-JP 1 108450082 108450082 single base substitution G A intron_variant LIRI-JP 1 108450265 108450265 single base substitution G T intron_variant LIRI-JP 1 108450754 108450754 single base substitution C A intron_variant LIRI-JP 1 108452096 108452096 single base substitution C T intron_variant LIRI-JP 1 108452552 108452552 single base substitution G T intron_variant LIRI-JP 1 108452711 108452711 single base substitution A T intron_variant LIRI-JP 1 108452862 108452862 single base substitution T C intron_variant LIRI-JP 1 108453066 108453066 single base substitution A G intron_variant LIRI-JP 1 108453107 108453107 single base substitution C A intron_variant LIRI-JP 1 108453167 108453167 single base substitution C T intron_variant LIRI-JP 1 108454164 108454164 single base substitution A G intron_variant LIRI-JP 1 108455734 108455734 single base substitution G C intron_variant LIRI-JP 1 108456744 108456744 single base substitution T A intron_variant LIRI-JP 1 108457059 108457059 single base substitution T G intron_variant LIRI-JP 1 108457898 108457898 single base substitution T C intron_variant LIRI-JP 1 108458742 108458742 single base substitution A G intron_variant LIRI-JP 1 108458761 108458761 deletion of <=200bp C - intron_variant LIRI-JP 1 108458966 108458966 single base substitution T C intron_variant LIRI-JP 1 108459103 108459103 single base substitution T A intron_variant LIRI-JP 1 108459612 108459612 single base substitution G A intron_variant LIRI-JP 1 108459767 108459767 single base substitution T C intron_variant LIRI-JP 1 108459873 108459873 deletion of <=200bp A - intron_variant LIRI-JP 1 108460836 108460836 single base substitution C T intron_variant LIRI-JP 1 108461461 108461461 single base substitution G T intron_variant LIRI-JP 1 108462249 108462249 single base substitution A G intron_variant LIRI-JP 1 108462310 108462310 single base substitution C A intron_variant LIRI-JP 1 108462562 108462562 single base substitution T G intron_variant LIRI-JP 1 108462651 108462651 single base substitution A C intron_variant LIRI-JP 1 108463208 108463208 single base substitution T A intron_variant LIRI-JP 1 108463723 108463723 single base substitution T C intron_variant LIRI-JP 1 108463776 108463776 single base substitution C T intron_variant LIRI-JP 1 108464420 108464420 single base substitution A G intron_variant LIRI-JP 1 108464953 108464956 deletion of <=200bp CAGG - intron_variant LIRI-JP 1 108466385 108466385 single base substitution G A intron_variant LIRI-JP 1 108466586 108466586 single base substitution C T intron_variant LIRI-JP 1 108466771 108466771 single base substitution T C intron_variant LIRI-JP 1 108467408 108467408 single base substitution A T intron_variant LIRI-JP 1 108467730 108467730 single base substitution T C intron_variant LIRI-JP 1 108468195 108468195 single base substitution C A intron_variant LIRI-JP 1 108468230 108468230 single base substitution C A intron_variant LIRI-JP 1 108468512 108468512 single base substitution A G intron_variant LIRI-JP 1 108468567 108468567 single base substitution T C intron_variant LIRI-JP 1 108471039 108471039 single base substitution G A intron_variant LIRI-JP 1 108471296 108471296 single base substitution A T intron_variant LIRI-JP 1 108471780 108471780 single base substitution G A intron_variant LIRI-JP 1 108471793 108471793 single base substitution C A intron_variant LIRI-JP 1 108472567 108472567 single base substitution A G intron_variant LIRI-JP 1 108472585 108472585 single base substitution C T intron_variant LIRI-JP 1 108472960 108472960 single base substitution T G intron_variant LIRI-JP 1 108473625 108473625 single base substitution C T intron_variant LIRI-JP 1 108474571 108474571 single base substitution T G intron_variant LIRI-JP 1 108474863 108474863 single base substitution A T intron_variant LIRI-JP 1 108474882 108474882 deletion of <=200bp T - intron_variant LIRI-JP 1 108475232 108475232 single base substitution G T intron_variant LIRI-JP 1 108477489 108477489 single base substitution G T intron_variant LIRI-JP 1 108477997 108477997 single base substitution G T intron_variant LIRI-JP 1 108478536 108478536 single base substitution G A intron_variant LIRI-JP 1 108479846 108479846 single base substitution A G intron_variant LIRI-JP 1 108480476 108480476 single base substitution A G intron_variant LIRI-JP 1 108480779 108480779 single base substitution G A intron_variant LIRI-JP 1 108480971 108480971 single base substitution C T intron_variant LIRI-JP 1 108481422 108481422 single base substitution C T intron_variant LIRI-JP 1 108483570 108483570 single base substitution C A intron_variant LIRI-JP 1 108485629 108485629 single base substitution C T intron_variant LIRI-JP 1 108486930 108486930 single base substitution A G intron_variant LIRI-JP 1 108487043 108487043 single base substitution C G intron_variant LIRI-JP 1 108487531 108487531 single base substitution A T intron_variant LIRI-JP 1 108487606 108487606 single base substitution A G intron_variant LIRI-JP 1 108487857 108487857 single base substitution T C intron_variant LIRI-JP 1 108489468 108489468 single base substitution A G intron_variant LIRI-JP 1 108489698 108489698 single base substitution A T intron_variant LIRI-JP 1 108489969 108489969 single base substitution C A intron_variant LIRI-JP 1 108490221 108490221 single base substitution T C intron_variant LIRI-JP 1 108490526 108490526 single base substitution G T intron_variant LIRI-JP 1 108490644 108490644 single base substitution A T intron_variant LIRI-JP 1 108490960 108490961 deletion of <=200bp AG - intron_variant LIRI-JP 1 108490992 108490992 single base substitution G C intron_variant LIRI-JP 1 108491478 108491478 single base substitution C A intron_variant LIRI-JP 1 108492819 108492820 deletion of <=200bp TC - intron_variant LIRI-JP 1 108494418 108494418 single base substitution C T intron_variant LIRI-JP 1 108494721 108494721 single base substitution A T intron_variant LIRI-JP 1 108496209 108496209 single base substitution C T intron_variant LIRI-JP 1 108496413 108496413 single base substitution T A intron_variant LIRI-JP 1 108497801 108497801 single base substitution A G intron_variant LIRI-JP 1 108497957 108497957 single base substitution A G intron_variant LIRI-JP 1 108498395 108498395 single base substitution G T intron_variant LIRI-JP 1 108498952 108498952 single base substitution C T intron_variant LIRI-JP 1 108499244 108499244 single base substitution A G intron_variant LIRI-JP 1 108499327 108499327 single base substitution T A intron_variant LIRI-JP 1 108500843 108500843 single base substitution A G intron_variant LIRI-JP 1 108501686 108501686 single base substitution C A intron_variant LIRI-JP 1 108501893 108501893 single base substitution A T intron_variant LIRI-JP 1 108501988 108501988 single base substitution C A intron_variant LIRI-JP 1 108501989 108501989 single base substitution C A intron_variant LIRI-JP 1 108502947 108502947 single base substitution G T intron_variant LIRI-JP 1 108503198 108503198 single base substitution G C intron_variant LIRI-JP 1 108503717 108503717 single base substitution T C intron_variant LIRI-JP 1 108503960 108503960 single base substitution T A intron_variant LIRI-JP 1 108504862 108504862 single base substitution A G intron_variant LIRI-JP 1 108505231 108505231 single base substitution C T intron_variant LIRI-JP 1 108507108 108507108 single base substitution T A intron_variant LIRI-JP 1 108507108 108507108 single base substitution T A upstream_gene_variant LIRI-JP 1 108508841 108508841 single base substitution A T upstream_gene_variant LIRI-JP 1 108509257 108509257 single base substitution C A upstream_gene_variant LIRI-JP 1 108510101 108510101 single base substitution G C upstream_gene_variant LIRI-JP 1 108511580 108511580 single base substitution G A upstream_gene_variant LIRI-JP 1 108512075 108512075 single base substitution A G upstream_gene_variant LIRI-JP 1 108512402 108512402 single base substitution G T upstream_gene_variant LUSC-KR 1 108110243 108110243 single base substitution C A downstream_gene_variant LUSC-KR 1 108117589 108117589 single base substitution G C intron_variant LUSC-KR 1 108122840 108122840 single base substitution G C intron_variant LUSC-KR 1 108126561 108126561 single base substitution G C intron_variant LUSC-KR 1 108126632 108126632 single base substitution T A intron_variant LUSC-KR 1 108127551 108127551 single base substitution G C intron_variant LUSC-KR 1 108129773 108129773 single base substitution G C intron_variant LUSC-KR 1 108132041 108132041 single base substitution C G intron_variant LUSC-KR 1 108139668 108139668 single base substitution G C intron_variant LUSC-KR 1 108139990 108139990 single base substitution G C intron_variant LUSC-KR 1 108142783 108142783 single base substitution C A downstream_gene_variant LUSC-KR 1 108142783 108142783 single base substitution C A intron_variant LUSC-KR 1 108146446 108146446 single base substitution G T intron_variant LUSC-KR 1 108155023 108155023 single base substitution C T intron_variant LUSC-KR 1 108155346 108155346 single base substitution G A downstream_gene_variant LUSC-KR 1 108155346 108155346 single base substitution G A intron_variant LUSC-KR 1 108157703 108157703 single base substitution T G downstream_gene_variant LUSC-KR 1 108157703 108157703 single base substitution T G intron_variant LUSC-KR 1 108165056 108165056 single base substitution C G intron_variant LUSC-KR 1 108165523 108165523 single base substitution A T intron_variant LUSC-KR 1 108166299 108166299 single base substitution G T intron_variant LUSC-KR 1 108166473 108166473 single base substitution G T intron_variant LUSC-KR 1 108167528 108167528 single base substitution T A intron_variant LUSC-KR 1 108168883 108168883 single base substitution C T intron_variant LUSC-KR 1 108173707 108173707 single base substitution C T intron_variant LUSC-KR 1 108175856 108175856 single base substitution G A intron_variant LUSC-KR 1 108178596 108178596 single base substitution T A intron_variant LUSC-KR 1 108180184 108180184 single base substitution G T intron_variant LUSC-KR 1 108180266 108180266 single base substitution C T intron_variant LUSC-KR 1 108182457 108182457 single base substitution G T intron_variant LUSC-KR 1 108185377 108185377 single base substitution C T missense_variant G120D 359G>A LUSC-KR 1 108185377 108185377 single base substitution C T missense_variant G33D 98G>A LUSC-KR 1 108185377 108185377 single base substitution C T missense_variant G593D 1778G>A LUSC-KR 1 108185377 108185377 single base substitution C T splice_region_variant LUSC-KR 1 108189101 108189101 single base substitution G T intron_variant LUSC-KR 1 108194088 108194088 single base substitution G A intron_variant LUSC-KR 1 108194795 108194795 single base substitution G C intron_variant LUSC-KR 1 108194796 108194796 single base substitution C A intron_variant LUSC-KR 1 108196261 108196261 single base substitution C A intron_variant LUSC-KR 1 108196487 108196487 single base substitution G T intron_variant LUSC-KR 1 108210110 108210110 single base substitution G C downstream_gene_variant LUSC-KR 1 108210110 108210110 single base substitution G C intron_variant LUSC-KR 1 108212808 108212808 single base substitution C A intron_variant LUSC-KR 1 108215609 108215609 single base substitution A G intron_variant LUSC-KR 1 108216634 108216634 single base substitution G A intron_variant LUSC-KR 1 108216634 108216634 single base substitution G A upstream_gene_variant LUSC-KR 1 108223465 108223465 single base substitution A G intron_variant LUSC-KR 1 108223465 108223465 single base substitution A G upstream_gene_variant LUSC-KR 1 108226046 108226046 single base substitution C A intron_variant LUSC-KR 1 108226908 108226908 single base substitution T A intron_variant LUSC-KR 1 108233397 108233397 single base substitution T C intron_variant LUSC-KR 1 108233397 108233397 single base substitution T C upstream_gene_variant LUSC-KR 1 108234738 108234738 single base substitution G A intron_variant LUSC-KR 1 108234738 108234738 single base substitution G A upstream_gene_variant LUSC-KR 1 108235321 108235321 single base substitution C A intron_variant LUSC-KR 1 108235321 108235321 single base substitution C A upstream_gene_variant LUSC-KR 1 108241629 108241629 single base substitution G C intron_variant LUSC-KR 1 108241979 108241979 single base substitution C A intron_variant LUSC-KR 1 108244777 108244777 single base substitution C T intron_variant LUSC-KR 1 108247372 108247372 single base substitution C T intron_variant LUSC-KR 1 108247688 108247688 single base substitution A G splice_region_variant LUSC-KR 1 108248088 108248088 single base substitution C A intron_variant LUSC-KR 1 108249340 108249340 single base substitution G A intron_variant LUSC-KR 1 108251962 108251962 single base substitution A T intron_variant LUSC-KR 1 108253072 108253072 single base substitution T G intron_variant LUSC-KR 1 108253073 108253073 single base substitution G T intron_variant LUSC-KR 1 108254667 108254667 single base substitution T A intron_variant LUSC-KR 1 108254898 108254898 single base substitution C G intron_variant LUSC-KR 1 108261791 108261791 single base substitution A T intron_variant LUSC-KR 1 108262430 108262430 single base substitution C T intron_variant LUSC-KR 1 108267549 108267549 single base substitution G T intron_variant LUSC-KR 1 108268298 108268298 single base substitution G T intron_variant LUSC-KR 1 108269035 108269035 single base substitution C T intron_variant LUSC-KR 1 108269408 108269408 single base substitution T C intron_variant LUSC-KR 1 108269794 108269794 single base substitution T C intron_variant LUSC-KR 1 108271228 108271228 single base substitution T C intron_variant LUSC-KR 1 108271234 108271234 single base substitution T C intron_variant LUSC-KR 1 108271240 108271240 single base substitution T C intron_variant LUSC-KR 1 108276481 108276481 single base substitution G T intron_variant LUSC-KR 1 108277062 108277062 single base substitution C A intron_variant LUSC-KR 1 108278702 108278702 single base substitution C T intron_variant LUSC-KR 1 108279315 108279315 single base substitution C T intron_variant LUSC-KR 1 108282880 108282880 single base substitution G T intron_variant LUSC-KR 1 108283701 108283701 single base substitution C A intron_variant LUSC-KR 1 108284187 108284187 single base substitution C A intron_variant LUSC-KR 1 108284299 108284299 single base substitution C A intron_variant LUSC-KR 1 108287404 108287404 single base substitution C A intron_variant LUSC-KR 1 108288827 108288827 single base substitution A T intron_variant LUSC-KR 1 108289524 108289524 single base substitution C A intron_variant LUSC-KR 1 108290796 108290796 single base substitution G T intron_variant LUSC-KR 1 108294304 108294304 single base substitution C G intron_variant LUSC-KR 1 108294304 108294304 single base substitution C G upstream_gene_variant LUSC-KR 1 108298416 108298416 single base substitution A G intron_variant LUSC-KR 1 108299520 108299520 single base substitution A G intron_variant LUSC-KR 1 108300879 108300879 single base substitution G T intron_variant LUSC-KR 1 108307642 108307642 single base substitution C T downstream_gene_variant LUSC-KR 1 108307642 108307642 single base substitution C T intron_variant LUSC-KR 1 108307693 108307693 single base substitution G C downstream_gene_variant LUSC-KR 1 108307693 108307693 single base substitution G C splice_region_variant LUSC-KR 1 108307694 108307694 single base substitution G T downstream_gene_variant LUSC-KR 1 108307694 108307694 single base substitution G T splice_region_variant LUSC-KR 1 108308350 108308350 single base substitution G A downstream_gene_variant LUSC-KR 1 108308350 108308350 single base substitution G A intron_variant LUSC-KR 1 108309469 108309469 single base substitution G T downstream_gene_variant LUSC-KR 1 108309469 108309469 single base substitution G T intron_variant LUSC-KR 1 108311334 108311334 single base substitution T C downstream_gene_variant LUSC-KR 1 108311334 108311334 single base substitution T C intron_variant LUSC-KR 1 108312907 108312907 single base substitution C A downstream_gene_variant LUSC-KR 1 108312907 108312907 single base substitution C A intron_variant LUSC-KR 1 108313230 108313230 single base substitution G C downstream_gene_variant LUSC-KR 1 108313230 108313230 single base substitution G C intron_variant LUSC-KR 1 108313258 108313258 single base substitution C T downstream_gene_variant LUSC-KR 1 108313258 108313258 single base substitution C T splice_region_variant LUSC-KR 1 108313507 108313507 single base substitution C A intron_variant LUSC-KR 1 108313844 108313844 single base substitution G T intron_variant LUSC-KR 1 108315766 108315766 single base substitution T C intron_variant LUSC-KR 1 108319696 108319696 single base substitution C T intron_variant LUSC-KR 1 108323371 108323371 single base substitution C T intron_variant LUSC-KR 1 108324278 108324278 single base substitution C A intron_variant LUSC-KR 1 108326035 108326035 single base substitution A C intron_variant LUSC-KR 1 108328841 108328841 single base substitution T A intron_variant LUSC-KR 1 108328841 108328841 single base substitution T A upstream_gene_variant LUSC-KR 1 108340721 108340721 single base substitution A G intron_variant LUSC-KR 1 108341298 108341298 single base substitution G A intron_variant LUSC-KR 1 108342753 108342753 single base substitution G A intron_variant LUSC-KR 1 108343702 108343702 single base substitution T C intron_variant LUSC-KR 1 108344562 108344562 single base substitution T C intron_variant LUSC-KR 1 108344770 108344770 single base substitution C T intron_variant LUSC-KR 1 108344960 108344960 single base substitution C A intron_variant LUSC-KR 1 108347878 108347878 single base substitution G T intron_variant LUSC-KR 1 108348855 108348855 single base substitution C T intron_variant LUSC-KR 1 108350025 108350025 single base substitution C A intron_variant LUSC-KR 1 108350344 108350344 single base substitution C T intron_variant LUSC-KR 1 108350872 108350872 single base substitution G A intron_variant LUSC-KR 1 108351979 108351979 single base substitution G T intron_variant LUSC-KR 1 108353061 108353061 single base substitution C G intron_variant LUSC-KR 1 108353450 108353450 single base substitution G A intron_variant LUSC-KR 1 108356277 108356277 single base substitution T G intron_variant LUSC-KR 1 108357921 108357921 single base substitution C A intron_variant LUSC-KR 1 108360630 108360630 single base substitution G A intron_variant LUSC-KR 1 108361410 108361410 single base substitution C A intron_variant LUSC-KR 1 108362335 108362335 single base substitution G A intron_variant LUSC-KR 1 108365112 108365112 single base substitution T C intron_variant LUSC-KR 1 108365112 108365112 single base substitution T C upstream_gene_variant LUSC-KR 1 108365334 108365334 single base substitution C A intron_variant LUSC-KR 1 108365334 108365334 single base substitution C A upstream_gene_variant LUSC-KR 1 108365670 108365670 single base substitution G A intron_variant LUSC-KR 1 108365670 108365670 single base substitution G A upstream_gene_variant LUSC-KR 1 108369479 108369479 single base substitution G T intron_variant LUSC-KR 1 108370767 108370767 single base substitution C T intron_variant LUSC-KR 1 108375354 108375354 single base substitution C T intron_variant LUSC-KR 1 108379081 108379081 single base substitution T A intron_variant LUSC-KR 1 108380301 108380301 single base substitution C G intron_variant LUSC-KR 1 108382510 108382510 single base substitution A T intron_variant LUSC-KR 1 108384059 108384059 single base substitution C T intron_variant LUSC-KR 1 108384361 108384361 single base substitution A T intron_variant LUSC-KR 1 108385885 108385885 single base substitution T C intron_variant LUSC-KR 1 108391314 108391314 single base substitution C T intron_variant LUSC-KR 1 108391528 108391528 single base substitution C T intron_variant LUSC-KR 1 108392000 108392000 single base substitution G C intron_variant LUSC-KR 1 108392800 108392800 single base substitution C A intron_variant LUSC-KR 1 108392852 108392852 single base substitution C A intron_variant LUSC-KR 1 108394797 108394797 single base substitution T A intron_variant LUSC-KR 1 108402863 108402863 single base substitution C A intron_variant LUSC-KR 1 108409996 108409996 single base substitution A G intron_variant LUSC-KR 1 108410758 108410758 single base substitution G C intron_variant LUSC-KR 1 108410759 108410759 single base substitution G T intron_variant LUSC-KR 1 108413330 108413330 single base substitution C T intron_variant LUSC-KR 1 108414087 108414087 single base substitution G C intron_variant LUSC-KR 1 108414788 108414788 single base substitution C A intron_variant LUSC-KR 1 108415303 108415303 single base substitution G A intron_variant LUSC-KR 1 108416303 108416303 single base substitution T C intron_variant LUSC-KR 1 108416522 108416522 single base substitution C T intron_variant LUSC-KR 1 108416919 108416919 single base substitution C A intron_variant LUSC-KR 1 108417308 108417308 single base substitution A G intron_variant LUSC-KR 1 108418388 108418388 single base substitution G A intron_variant LUSC-KR 1 108421704 108421704 single base substitution A C intron_variant LUSC-KR 1 108422298 108422298 single base substitution C A intron_variant LUSC-KR 1 108424978 108424978 single base substitution G C intron_variant LUSC-KR 1 108426030 108426030 single base substitution G C intron_variant LUSC-KR 1 108428691 108428691 single base substitution T A intron_variant LUSC-KR 1 108428761 108428761 single base substitution A G intron_variant LUSC-KR 1 108428781 108428781 single base substitution C A intron_variant LUSC-KR 1 108429602 108429602 single base substitution A G intron_variant LUSC-KR 1 108430229 108430229 single base substitution A G intron_variant LUSC-KR 1 108431647 108431647 single base substitution G T intron_variant LUSC-KR 1 108432037 108432037 single base substitution A T intron_variant LUSC-KR 1 108433061 108433061 single base substitution C T intron_variant LUSC-KR 1 108433190 108433190 single base substitution G A intron_variant LUSC-KR 1 108434166 108434166 single base substitution A G intron_variant LUSC-KR 1 108435833 108435833 single base substitution T C intron_variant LUSC-KR 1 108436763 108436763 single base substitution T A intron_variant LUSC-KR 1 108439171 108439171 single base substitution A G intron_variant LUSC-KR 1 108445415 108445415 single base substitution G T intron_variant LUSC-KR 1 108445639 108445639 single base substitution G T intron_variant LUSC-KR 1 108452146 108452146 single base substitution C T intron_variant LUSC-KR 1 108453647 108453647 single base substitution G C intron_variant LUSC-KR 1 108454160 108454160 single base substitution C G intron_variant LUSC-KR 1 108455749 108455749 single base substitution A T intron_variant LUSC-KR 1 108458590 108458590 single base substitution G A intron_variant LUSC-KR 1 108460857 108460857 single base substitution G A intron_variant LUSC-KR 1 108461658 108461658 single base substitution C T intron_variant LUSC-KR 1 108465902 108465902 single base substitution T C intron_variant LUSC-KR 1 108468686 108468686 single base substitution G A intron_variant LUSC-KR 1 108469098 108469098 single base substitution C T intron_variant LUSC-KR 1 108470252 108470252 single base substitution G A intron_variant LUSC-KR 1 108473425 108473425 single base substitution T A intron_variant LUSC-KR 1 108473506 108473506 single base substitution C G intron_variant LUSC-KR 1 108474169 108474169 single base substitution T G intron_variant LUSC-KR 1 108475532 108475532 single base substitution C T intron_variant LUSC-KR 1 108475533 108475533 single base substitution C T intron_variant LUSC-KR 1 108477583 108477583 single base substitution C A intron_variant LUSC-KR 1 108483251 108483251 single base substitution C T intron_variant LUSC-KR 1 108485096 108485096 single base substitution G T intron_variant LUSC-KR 1 108488647 108488647 single base substitution G A intron_variant LUSC-KR 1 108493863 108493863 single base substitution G A intron_variant LUSC-KR 1 108494846 108494846 single base substitution C A intron_variant LUSC-KR 1 108506007 108506007 single base substitution C T intron_variant LUSC-KR 1 108509005 108509005 single base substitution C A upstream_gene_variant LUSC-KR 1 108509581 108509581 single base substitution C G upstream_gene_variant LUSC-KR 1 108509955 108509955 single base substitution G C upstream_gene_variant LUSC-US 1 108145765 108145765 insertion of <=200bp - T 3_prime_UTR_variant LUSC-US 1 108145765 108145765 insertion of <=200bp - T exon_variant LUSC-US 1 108145765 108145765 insertion of <=200bp - T frameshift_variant R119R? LUSC-US 1 108145765 108145765 insertion of <=200bp - T frameshift_variant R679R? LUSC-US 1 108145765 108145765 insertion of <=200bp - T frameshift_variant R83R? MALY-DE 1 108114257 108114257 single base substitution A C 3_prime_UTR_variant MALY-DE 1 108114257 108114257 single base substitution A C downstream_gene_variant MALY-DE 1 108118713 108118713 single base substitution A G intron_variant MALY-DE 1 108119344 108119344 single base substitution A C intron_variant MALY-DE 1 108119394 108119394 single base substitution C T intron_variant MALY-DE 1 108134679 108134680 deletion of <=200bp GT - downstream_gene_variant MALY-DE 1 108134679 108134680 deletion of <=200bp GT - intron_variant MALY-DE 1 108138804 108138804 single base substitution G A downstream_gene_variant MALY-DE 1 108138804 108138804 single base substitution G A intron_variant MALY-DE 1 108141424 108141425 deletion of <=200bp AC - downstream_gene_variant MALY-DE 1 108141424 108141425 deletion of <=200bp AC - intron_variant MALY-DE 1 108144432 108144432 single base substitution T G downstream_gene_variant MALY-DE 1 108144432 108144432 single base substitution T G intron_variant MALY-DE 1 108160165 108160165 single base substitution G T downstream_gene_variant MALY-DE 1 108160165 108160165 single base substitution G T intron_variant MALY-DE 1 108184159 108184159 insertion of <=200bp - A intron_variant MALY-DE 1 108188373 108188373 single base substitution A G intron_variant MALY-DE 1 108189976 108189976 single base substitution C A intron_variant MALY-DE 1 108192407 108192407 single base substitution T C intron_variant MALY-DE 1 108192417 108192417 single base substitution T G intron_variant MALY-DE 1 108193611 108193611 single base substitution A T intron_variant MALY-DE 1 108203743 108203743 single base substitution T C intron_variant MALY-DE 1 108213875 108213875 single base substitution A C intron_variant MALY-DE 1 108225657 108225657 single base substitution A C intron_variant MALY-DE 1 108232771 108232771 single base substitution T C intron_variant MALY-DE 1 108232771 108232771 single base substitution T C upstream_gene_variant MALY-DE 1 108247972 108247972 single base substitution C T intron_variant MALY-DE 1 108268753 108268753 insertion of <=200bp - A intron_variant MALY-DE 1 108273903 108273903 single base substitution C G intron_variant MALY-DE 1 108284133 108284133 single base substitution C T intron_variant MALY-DE 1 108296205 108296205 single base substitution A C intron_variant MALY-DE 1 108296205 108296205 single base substitution A C upstream_gene_variant MALY-DE 1 108297030 108297030 single base substitution C A intron_variant MALY-DE 1 108297030 108297030 single base substitution C A upstream_gene_variant MALY-DE 1 108303812 108303812 single base substitution C T intron_variant MALY-DE 1 108307691 108307691 single base substitution T C downstream_gene_variant MALY-DE 1 108307691 108307691 single base substitution T C splice_region_variant MALY-DE 1 108309468 108309470 deletion of <=200bp AGA - downstream_gene_variant MALY-DE 1 108309468 108309470 deletion of <=200bp AGA - intron_variant MALY-DE 1 108312138 108312138 single base substitution T A downstream_gene_variant MALY-DE 1 108312138 108312138 single base substitution T A intron_variant MALY-DE 1 108315887 108315887 single base substitution C T intron_variant MALY-DE 1 108319472 108319472 single base substitution C T intron_variant MALY-DE 1 108320147 108320147 single base substitution G A intron_variant MALY-DE 1 108323839 108323839 single base substitution A G intron_variant MALY-DE 1 108334492 108334492 single base substitution G C intron_variant MALY-DE 1 108341422 108341422 single base substitution A G intron_variant MALY-DE 1 108341459 108341459 single base substitution T C intron_variant MALY-DE 1 108345820 108345820 single base substitution C T intron_variant MALY-DE 1 108349702 108349702 single base substitution G T intron_variant MALY-DE 1 108351827 108351827 single base substitution T C intron_variant MALY-DE 1 108358056 108358056 single base substitution C A intron_variant MALY-DE 1 108359108 108359108 single base substitution C T intron_variant MALY-DE 1 108365121 108365121 insertion of <=200bp - A intron_variant MALY-DE 1 108365121 108365121 insertion of <=200bp - A upstream_gene_variant MALY-DE 1 108369216 108369216 single base substitution G T intron_variant MALY-DE 1 108369705 108369705 insertion of <=200bp - A intron_variant MALY-DE 1 108376877 108376877 single base substitution A C intron_variant MALY-DE 1 108386147 108386147 single base substitution G A intron_variant MALY-DE 1 108390270 108390270 single base substitution G A intron_variant MALY-DE 1 108395975 108395975 single base substitution T C intron_variant MALY-DE 1 108398303 108398303 single base substitution C T intron_variant MALY-DE 1 108401667 108401667 single base substitution C T intron_variant MALY-DE 1 108402267 108402267 single base substitution T C intron_variant MALY-DE 1 108409772 108409772 single base substitution T C intron_variant MALY-DE 1 108409801 108409801 single base substitution T C intron_variant MALY-DE 1 108416656 108416656 single base substitution T C intron_variant MALY-DE 1 108419375 108419375 single base substitution T A intron_variant MALY-DE 1 108420607 108420607 single base substitution T A intron_variant MALY-DE 1 108438013 108438013 single base substitution A T intron_variant MALY-DE 1 108442814 108442814 single base substitution C G intron_variant MALY-DE 1 108459717 108459717 single base substitution G C intron_variant MALY-DE 1 108468793 108468793 single base substitution A G intron_variant MALY-DE 1 108475499 108475499 single base substitution A G intron_variant MALY-DE 1 108481170 108481170 single base substitution C T intron_variant MALY-DE 1 108483571 108483571 single base substitution A G intron_variant MALY-DE 1 108490908 108490908 single base substitution T A intron_variant MALY-DE 1 108491464 108491464 deletion of <=200bp A - intron_variant MALY-DE 1 108501897 108501897 single base substitution T A intron_variant MALY-DE 1 108508712 108508712 single base substitution G A upstream_gene_variant MALY-DE 1 108511157 108511157 single base substitution T G upstream_gene_variant MELA-AU 1 108109152 108109152 single base substitution G A downstream_gene_variant MELA-AU 1 108109206 108109206 single base substitution G A downstream_gene_variant MELA-AU 1 108109225 108109225 single base substitution C T downstream_gene_variant MELA-AU 1 108109264 108109264 single base substitution G A downstream_gene_variant MELA-AU 1 108109363 108109363 single base substitution C T downstream_gene_variant MELA-AU 1 108109407 108109407 single base substitution C T downstream_gene_variant MELA-AU 1 108109427 108109427 single base substitution C T downstream_gene_variant MELA-AU 1 108109701 108109701 single base substitution G A downstream_gene_variant MELA-AU 1 108109945 108109945 single base substitution C T downstream_gene_variant MELA-AU 1 108109983 108109983 single base substitution G A downstream_gene_variant MELA-AU 1 108110080 108110080 single base substitution G A downstream_gene_variant MELA-AU 1 108110377 108110377 single base substitution G A downstream_gene_variant MELA-AU 1 108110408 108110408 single base substitution G A downstream_gene_variant MELA-AU 1 108110453 108110453 single base substitution C T downstream_gene_variant MELA-AU 1 108110529 108110529 single base substitution G A downstream_gene_variant MELA-AU 1 108110639 108110639 single base substitution G A downstream_gene_variant MELA-AU 1 108110657 108110657 single base substitution G A downstream_gene_variant MELA-AU 1 108111140 108111140 single base substitution G A downstream_gene_variant MELA-AU 1 108111214 108111214 single base substitution G A downstream_gene_variant MELA-AU 1 108111543 108111543 single base substitution C T downstream_gene_variant MELA-AU 1 108111557 108111557 single base substitution C T downstream_gene_variant MELA-AU 1 108111771 108111771 single base substitution G A downstream_gene_variant MELA-AU 1 108111874 108111874 single base substitution G A downstream_gene_variant MELA-AU 1 108112089 108112089 single base substitution G A downstream_gene_variant MELA-AU 1 108112117 108112117 single base substitution G A downstream_gene_variant MELA-AU 1 108112465 108112465 single base substitution C T downstream_gene_variant MELA-AU 1 108112762 108112762 single base substitution C T downstream_gene_variant MELA-AU 1 108112868 108112868 single base substitution C T downstream_gene_variant MELA-AU 1 108112965 108112965 single base substitution T G downstream_gene_variant MELA-AU 1 108113101 108113101 single base substitution G A downstream_gene_variant MELA-AU 1 108113175 108113175 single base substitution G A downstream_gene_variant MELA-AU 1 108113402 108113402 single base substitution C T downstream_gene_variant MELA-AU 1 108113612 108113612 single base substitution C T downstream_gene_variant MELA-AU 1 108114500 108114500 single base substitution G A 3_prime_UTR_variant MELA-AU 1 108114500 108114500 single base substitution G A downstream_gene_variant MELA-AU 1 108114501 108114501 single base substitution G A 3_prime_UTR_variant MELA-AU 1 108114501 108114501 single base substitution G A downstream_gene_variant MELA-AU 1 108114538 108114538 single base substitution G A 3_prime_UTR_variant MELA-AU 1 108114538 108114538 single base substitution G A downstream_gene_variant MELA-AU 1 108114592 108114592 single base substitution A T 3_prime_UTR_variant MELA-AU 1 108114592 108114592 single base substitution A T downstream_gene_variant MELA-AU 1 108115172 108115172 single base substitution T C 3_prime_UTR_variant MELA-AU 1 108115172 108115172 single base substitution T C downstream_gene_variant MELA-AU 1 108115826 108115826 single base substitution G T 3_prime_UTR_variant MELA-AU 1 108115826 108115826 single base substitution G T exon_variant MELA-AU 1 108115942 108115942 single base substitution G A 3_prime_UTR_variant MELA-AU 1 108115942 108115942 single base substitution G A exon_variant MELA-AU 1 108116928 108116928 single base substitution C T intron_variant MELA-AU 1 108116942 108116942 single base substitution G A intron_variant MELA-AU 1 108117008 108117008 single base substitution C T intron_variant MELA-AU 1 108117374 108117374 single base substitution A G intron_variant MELA-AU 1 108117661 108117661 single base substitution C T intron_variant MELA-AU 1 108117688 108117689 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108118013 108118013 single base substitution C T intron_variant MELA-AU 1 108118024 108118024 single base substitution G A intron_variant MELA-AU 1 108118322 108118322 single base substitution G A intron_variant MELA-AU 1 108118550 108118550 single base substitution A G intron_variant MELA-AU 1 108118564 108118564 single base substitution G A intron_variant MELA-AU 1 108118946 108118946 single base substitution G A intron_variant MELA-AU 1 108119504 108119504 single base substitution G A intron_variant MELA-AU 1 108119549 108119549 single base substitution C T intron_variant MELA-AU 1 108119606 108119606 single base substitution T C intron_variant MELA-AU 1 108119917 108119917 single base substitution G A intron_variant MELA-AU 1 108120214 108120214 single base substitution C T intron_variant MELA-AU 1 108120280 108120280 single base substitution G A intron_variant MELA-AU 1 108120441 108120441 single base substitution A G intron_variant MELA-AU 1 108120547 108120547 single base substitution G A intron_variant MELA-AU 1 108120592 108120592 single base substitution C T intron_variant MELA-AU 1 108120723 108120723 single base substitution C T intron_variant MELA-AU 1 108120901 108120901 single base substitution C T intron_variant MELA-AU 1 108121222 108121222 single base substitution G A intron_variant MELA-AU 1 108121711 108121711 single base substitution C T intron_variant MELA-AU 1 108122276 108122276 single base substitution T A intron_variant MELA-AU 1 108122319 108122319 single base substitution G C intron_variant MELA-AU 1 108122429 108122429 single base substitution C T intron_variant MELA-AU 1 108122446 108122446 single base substitution C T intron_variant MELA-AU 1 108122673 108122673 single base substitution C T intron_variant MELA-AU 1 108122787 108122787 single base substitution C A intron_variant MELA-AU 1 108122917 108122917 single base substitution G C intron_variant MELA-AU 1 108123042 108123042 single base substitution A T intron_variant MELA-AU 1 108123255 108123255 single base substitution C T intron_variant MELA-AU 1 108123511 108123511 single base substitution G A intron_variant MELA-AU 1 108123820 108123820 single base substitution C T intron_variant MELA-AU 1 108123839 108123839 single base substitution C T intron_variant MELA-AU 1 108123876 108123876 single base substitution A T intron_variant MELA-AU 1 108124059 108124059 single base substitution T G intron_variant MELA-AU 1 108124420 108124420 single base substitution G A intron_variant MELA-AU 1 108124449 108124449 single base substitution G A intron_variant MELA-AU 1 108124490 108124490 single base substitution C T intron_variant MELA-AU 1 108125336 108125336 single base substitution C T intron_variant MELA-AU 1 108125761 108125761 single base substitution T C intron_variant MELA-AU 1 108126432 108126432 single base substitution C T intron_variant MELA-AU 1 108126435 108126435 single base substitution G A intron_variant MELA-AU 1 108127251 108127251 single base substitution C T intron_variant MELA-AU 1 108127306 108127306 single base substitution C T intron_variant MELA-AU 1 108127322 108127322 single base substitution G A intron_variant MELA-AU 1 108127448 108127448 single base substitution G A intron_variant MELA-AU 1 108127583 108127583 single base substitution G A intron_variant MELA-AU 1 108127674 108127674 single base substitution G A intron_variant MELA-AU 1 108127845 108127845 single base substitution C T intron_variant MELA-AU 1 108128662 108128662 single base substitution G A intron_variant MELA-AU 1 108128714 108128714 single base substitution A G intron_variant MELA-AU 1 108129380 108129380 single base substitution G A intron_variant MELA-AU 1 108129585 108129585 single base substitution C T intron_variant MELA-AU 1 108129721 108129721 single base substitution C T intron_variant MELA-AU 1 108129865 108129865 single base substitution G A intron_variant MELA-AU 1 108130111 108130111 single base substitution A T intron_variant MELA-AU 1 108130304 108130304 single base substitution C T intron_variant MELA-AU 1 108130403 108130403 single base substitution G A intron_variant MELA-AU 1 108130701 108130701 single base substitution G A intron_variant MELA-AU 1 108130800 108130800 single base substitution G A intron_variant MELA-AU 1 108130801 108130801 single base substitution G A intron_variant MELA-AU 1 108131415 108131415 single base substitution G T intron_variant MELA-AU 1 108131511 108131511 single base substitution T A intron_variant MELA-AU 1 108132152 108132152 single base substitution C T intron_variant MELA-AU 1 108132293 108132293 single base substitution C T intron_variant MELA-AU 1 108132446 108132446 single base substitution G A intron_variant MELA-AU 1 108132634 108132634 single base substitution G A intron_variant MELA-AU 1 108132833 108132833 single base substitution G A intron_variant MELA-AU 1 108133165 108133165 single base substitution G A intron_variant MELA-AU 1 108133176 108133176 single base substitution T A intron_variant MELA-AU 1 108133374 108133374 single base substitution C T intron_variant MELA-AU 1 108133532 108133532 single base substitution C T intron_variant MELA-AU 1 108134026 108134026 single base substitution G A downstream_gene_variant MELA-AU 1 108134026 108134026 single base substitution G A intron_variant MELA-AU 1 108134701 108134701 single base substitution A G downstream_gene_variant MELA-AU 1 108134701 108134701 single base substitution A G intron_variant MELA-AU 1 108134921 108134921 single base substitution G A downstream_gene_variant MELA-AU 1 108134921 108134921 single base substitution G A intron_variant MELA-AU 1 108135136 108135136 single base substitution G A downstream_gene_variant MELA-AU 1 108135136 108135136 single base substitution G A intron_variant MELA-AU 1 108135916 108135916 single base substitution G A downstream_gene_variant MELA-AU 1 108135916 108135916 single base substitution G A intron_variant MELA-AU 1 108136378 108136378 single base substitution A G downstream_gene_variant MELA-AU 1 108136378 108136378 single base substitution A G intron_variant MELA-AU 1 108136705 108136705 single base substitution C T downstream_gene_variant MELA-AU 1 108136705 108136705 single base substitution C T intron_variant MELA-AU 1 108136708 108136708 single base substitution T G downstream_gene_variant MELA-AU 1 108136708 108136708 single base substitution T G intron_variant MELA-AU 1 108136809 108136809 single base substitution C T downstream_gene_variant MELA-AU 1 108136809 108136809 single base substitution C T intron_variant MELA-AU 1 108137055 108137055 single base substitution C A downstream_gene_variant MELA-AU 1 108137055 108137055 single base substitution C A intron_variant MELA-AU 1 108137238 108137238 single base substitution C T downstream_gene_variant MELA-AU 1 108137238 108137238 single base substitution C T intron_variant MELA-AU 1 108137570 108137570 single base substitution G A downstream_gene_variant MELA-AU 1 108137570 108137570 single base substitution G A intron_variant MELA-AU 1 108137592 108137592 single base substitution C T downstream_gene_variant MELA-AU 1 108137592 108137592 single base substitution C T intron_variant MELA-AU 1 108138205 108138205 single base substitution G A downstream_gene_variant MELA-AU 1 108138205 108138205 single base substitution G A intron_variant MELA-AU 1 108138238 108138238 single base substitution G A downstream_gene_variant MELA-AU 1 108138238 108138238 single base substitution G A intron_variant MELA-AU 1 108138891 108138891 single base substitution G A 3_prime_UTR_variant MELA-AU 1 108138891 108138891 single base substitution G A downstream_gene_variant MELA-AU 1 108138891 108138891 single base substitution G A exon_variant MELA-AU 1 108138891 108138891 single base substitution G A missense_variant P169S 505C>T MELA-AU 1 108138891 108138891 single base substitution G A missense_variant P205S 613C>T MELA-AU 1 108138891 108138891 single base substitution G A missense_variant P765S 2293C>T MELA-AU 1 108139022 108139022 single base substitution G A intron_variant MELA-AU 1 108139744 108139744 single base substitution G A intron_variant MELA-AU 1 108139784 108139784 single base substitution G A intron_variant MELA-AU 1 108139837 108139837 single base substitution A C intron_variant MELA-AU 1 108139956 108139956 single base substitution C T intron_variant MELA-AU 1 108140382 108140382 single base substitution A C intron_variant MELA-AU 1 108140966 108140966 single base substitution G A downstream_gene_variant MELA-AU 1 108140966 108140966 single base substitution G A intron_variant MELA-AU 1 108141079 108141079 single base substitution T G downstream_gene_variant MELA-AU 1 108141079 108141079 single base substitution T G intron_variant MELA-AU 1 108141289 108141289 single base substitution G A downstream_gene_variant MELA-AU 1 108141289 108141289 single base substitution G A intron_variant MELA-AU 1 108141410 108141410 single base substitution G A downstream_gene_variant MELA-AU 1 108141410 108141410 single base substitution G A intron_variant MELA-AU 1 108141754 108141754 single base substitution C T downstream_gene_variant MELA-AU 1 108141754 108141754 single base substitution C T intron_variant MELA-AU 1 108141953 108141953 single base substitution C T downstream_gene_variant MELA-AU 1 108141953 108141953 single base substitution C T intron_variant MELA-AU 1 108142390 108142390 single base substitution C T downstream_gene_variant MELA-AU 1 108142390 108142390 single base substitution C T intron_variant MELA-AU 1 108142577 108142577 single base substitution T C downstream_gene_variant MELA-AU 1 108142577 108142577 single base substitution T C intron_variant MELA-AU 1 108142701 108142701 single base substitution G A downstream_gene_variant MELA-AU 1 108142701 108142701 single base substitution G A intron_variant MELA-AU 1 108142852 108142852 single base substitution G A downstream_gene_variant MELA-AU 1 108142852 108142852 single base substitution G A intron_variant MELA-AU 1 108142968 108142968 single base substitution C T downstream_gene_variant MELA-AU 1 108142968 108142968 single base substitution C T intron_variant MELA-AU 1 108143609 108143609 single base substitution G A downstream_gene_variant MELA-AU 1 108143609 108143609 single base substitution G A intron_variant MELA-AU 1 108143649 108143649 single base substitution G A downstream_gene_variant MELA-AU 1 108143649 108143649 single base substitution G A intron_variant MELA-AU 1 108143806 108143806 single base substitution G A downstream_gene_variant MELA-AU 1 108143806 108143806 single base substitution G A intron_variant MELA-AU 1 108144190 108144190 single base substitution C T downstream_gene_variant MELA-AU 1 108144190 108144190 single base substitution C T intron_variant MELA-AU 1 108144216 108144216 single base substitution C T downstream_gene_variant MELA-AU 1 108144216 108144216 single base substitution C T intron_variant MELA-AU 1 108144283 108144283 single base substitution G A downstream_gene_variant MELA-AU 1 108144283 108144283 single base substitution G A intron_variant MELA-AU 1 108144284 108144284 single base substitution G A downstream_gene_variant MELA-AU 1 108144284 108144284 single base substitution G A intron_variant MELA-AU 1 108144481 108144481 single base substitution G A downstream_gene_variant MELA-AU 1 108144481 108144481 single base substitution G A intron_variant MELA-AU 1 108144936 108144936 single base substitution C T downstream_gene_variant MELA-AU 1 108144936 108144936 single base substitution C T intron_variant MELA-AU 1 108145198 108145198 single base substitution G A downstream_gene_variant MELA-AU 1 108145198 108145198 single base substitution G A intron_variant MELA-AU 1 108145831 108145831 single base substitution G A intron_variant MELA-AU 1 108145933 108145933 single base substitution C A intron_variant MELA-AU 1 108146100 108146100 single base substitution G A intron_variant MELA-AU 1 108146511 108146512 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108146549 108146549 single base substitution C T intron_variant MELA-AU 1 108146963 108146963 single base substitution C T intron_variant MELA-AU 1 108147314 108147314 single base substitution C T intron_variant MELA-AU 1 108147335 108147335 single base substitution C T intron_variant MELA-AU 1 108147347 108147347 single base substitution G A intron_variant MELA-AU 1 108147569 108147569 single base substitution G A downstream_gene_variant MELA-AU 1 108147569 108147569 single base substitution G A intron_variant MELA-AU 1 108147832 108147832 single base substitution C T downstream_gene_variant MELA-AU 1 108147832 108147832 single base substitution C T intron_variant MELA-AU 1 108149025 108149025 single base substitution C T downstream_gene_variant MELA-AU 1 108149025 108149025 single base substitution C T intron_variant MELA-AU 1 108149465 108149465 single base substitution C T downstream_gene_variant MELA-AU 1 108149465 108149465 single base substitution C T intron_variant MELA-AU 1 108149581 108149581 single base substitution T A downstream_gene_variant MELA-AU 1 108149581 108149581 single base substitution T A intron_variant MELA-AU 1 108149587 108149587 single base substitution T C downstream_gene_variant MELA-AU 1 108149587 108149587 single base substitution T C intron_variant MELA-AU 1 108149856 108149856 single base substitution G A downstream_gene_variant MELA-AU 1 108149856 108149856 single base substitution G A intron_variant MELA-AU 1 108149921 108149921 single base substitution C T downstream_gene_variant MELA-AU 1 108149921 108149921 single base substitution C T intron_variant MELA-AU 1 108149955 108149955 single base substitution C T downstream_gene_variant MELA-AU 1 108149955 108149955 single base substitution C T intron_variant MELA-AU 1 108150068 108150068 single base substitution G A downstream_gene_variant MELA-AU 1 108150068 108150068 single base substitution G A intron_variant MELA-AU 1 108150250 108150250 single base substitution G A downstream_gene_variant MELA-AU 1 108150250 108150250 single base substitution G A intron_variant MELA-AU 1 108150260 108150260 single base substitution G A downstream_gene_variant MELA-AU 1 108150260 108150260 single base substitution G A intron_variant MELA-AU 1 108150450 108150450 single base substitution A T downstream_gene_variant MELA-AU 1 108150450 108150450 single base substitution A T intron_variant MELA-AU 1 108150589 108150589 single base substitution G T downstream_gene_variant MELA-AU 1 108150589 108150589 single base substitution G T intron_variant MELA-AU 1 108150692 108150692 single base substitution A T downstream_gene_variant MELA-AU 1 108150692 108150692 single base substitution A T intron_variant MELA-AU 1 108150838 108150838 single base substitution G A downstream_gene_variant MELA-AU 1 108150838 108150838 single base substitution G A intron_variant MELA-AU 1 108150897 108150897 single base substitution C A downstream_gene_variant MELA-AU 1 108150897 108150897 single base substitution C A intron_variant MELA-AU 1 108151308 108151308 single base substitution G A downstream_gene_variant MELA-AU 1 108151308 108151308 single base substitution G A intron_variant MELA-AU 1 108151333 108151333 single base substitution G A downstream_gene_variant MELA-AU 1 108151333 108151333 single base substitution G A intron_variant MELA-AU 1 108151557 108151557 single base substitution G A downstream_gene_variant MELA-AU 1 108151557 108151557 single base substitution G A intron_variant MELA-AU 1 108151885 108151885 single base substitution G A downstream_gene_variant MELA-AU 1 108151885 108151885 single base substitution G A intron_variant MELA-AU 1 108152201 108152201 single base substitution G A downstream_gene_variant MELA-AU 1 108152201 108152201 single base substitution G A intron_variant MELA-AU 1 108152480 108152480 single base substitution C T exon_variant MELA-AU 1 108152480 108152480 single base substitution C T intron_variant MELA-AU 1 108152592 108152592 single base substitution G A intron_variant MELA-AU 1 108152592 108152592 single base substitution G A splice_region_variant MELA-AU 1 108152686 108152687 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 1 108152921 108152921 single base substitution G A intron_variant MELA-AU 1 108153053 108153053 single base substitution G A intron_variant MELA-AU 1 108153175 108153175 single base substitution C T intron_variant MELA-AU 1 108153231 108153231 single base substitution G A intron_variant MELA-AU 1 108153303 108153303 single base substitution A G intron_variant MELA-AU 1 108153317 108153317 single base substitution C T intron_variant MELA-AU 1 108153436 108153436 single base substitution G A intron_variant MELA-AU 1 108153437 108153437 single base substitution G A intron_variant MELA-AU 1 108153749 108153750 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108153771 108153771 single base substitution C T intron_variant MELA-AU 1 108153790 108153790 single base substitution A C intron_variant MELA-AU 1 108153794 108153794 single base substitution C T intron_variant MELA-AU 1 108153890 108153890 single base substitution C T intron_variant MELA-AU 1 108154057 108154057 single base substitution C A intron_variant MELA-AU 1 108154112 108154112 single base substitution G A intron_variant MELA-AU 1 108154319 108154319 single base substitution A T intron_variant MELA-AU 1 108154372 108154372 single base substitution G A intron_variant MELA-AU 1 108154388 108154388 single base substitution C T intron_variant MELA-AU 1 108154594 108154594 single base substitution C T intron_variant MELA-AU 1 108154602 108154602 single base substitution G A intron_variant MELA-AU 1 108154851 108154851 single base substitution C T intron_variant MELA-AU 1 108155988 108155988 single base substitution C T downstream_gene_variant MELA-AU 1 108155988 108155988 single base substitution C T intron_variant MELA-AU 1 108156009 108156009 single base substitution A T downstream_gene_variant MELA-AU 1 108156009 108156009 single base substitution A T intron_variant MELA-AU 1 108156170 108156170 single base substitution G T downstream_gene_variant MELA-AU 1 108156170 108156170 single base substitution G T intron_variant MELA-AU 1 108156254 108156254 single base substitution C T downstream_gene_variant MELA-AU 1 108156254 108156254 single base substitution C T intron_variant MELA-AU 1 108156410 108156410 single base substitution A C downstream_gene_variant MELA-AU 1 108156410 108156410 single base substitution A C intron_variant MELA-AU 1 108156419 108156419 single base substitution C T downstream_gene_variant MELA-AU 1 108156419 108156419 single base substitution C T intron_variant MELA-AU 1 108156465 108156465 single base substitution G A downstream_gene_variant MELA-AU 1 108156465 108156465 single base substitution G A intron_variant MELA-AU 1 108156494 108156494 single base substitution T G downstream_gene_variant MELA-AU 1 108156494 108156494 single base substitution T G intron_variant MELA-AU 1 108156509 108156509 single base substitution C T downstream_gene_variant MELA-AU 1 108156509 108156509 single base substitution C T intron_variant MELA-AU 1 108156763 108156763 single base substitution G A downstream_gene_variant MELA-AU 1 108156763 108156763 single base substitution G A intron_variant MELA-AU 1 108156772 108156772 single base substitution G A downstream_gene_variant MELA-AU 1 108156772 108156772 single base substitution G A intron_variant MELA-AU 1 108156902 108156902 single base substitution C T downstream_gene_variant MELA-AU 1 108156902 108156902 single base substitution C T intron_variant MELA-AU 1 108156989 108156989 single base substitution G A downstream_gene_variant MELA-AU 1 108156989 108156989 single base substitution G A intron_variant MELA-AU 1 108157016 108157016 single base substitution G A downstream_gene_variant MELA-AU 1 108157016 108157016 single base substitution G A intron_variant MELA-AU 1 108157122 108157122 single base substitution C T downstream_gene_variant MELA-AU 1 108157122 108157122 single base substitution C T intron_variant MELA-AU 1 108157568 108157568 single base substitution C T downstream_gene_variant MELA-AU 1 108157568 108157568 single base substitution C T intron_variant MELA-AU 1 108158055 108158055 single base substitution G A downstream_gene_variant MELA-AU 1 108158055 108158055 single base substitution G A intron_variant MELA-AU 1 108158651 108158651 single base substitution G A downstream_gene_variant MELA-AU 1 108158651 108158651 single base substitution G A intron_variant MELA-AU 1 108158735 108158735 single base substitution G A downstream_gene_variant MELA-AU 1 108158735 108158735 single base substitution G A intron_variant MELA-AU 1 108158938 108158938 single base substitution C T downstream_gene_variant MELA-AU 1 108158938 108158938 single base substitution C T intron_variant MELA-AU 1 108158941 108158941 single base substitution G A downstream_gene_variant MELA-AU 1 108158941 108158941 single base substitution G A intron_variant MELA-AU 1 108159031 108159031 single base substitution G A downstream_gene_variant MELA-AU 1 108159031 108159031 single base substitution G A intron_variant MELA-AU 1 108159064 108159064 single base substitution G A downstream_gene_variant MELA-AU 1 108159064 108159064 single base substitution G A intron_variant MELA-AU 1 108159394 108159394 single base substitution G A downstream_gene_variant MELA-AU 1 108159394 108159394 single base substitution G A intron_variant MELA-AU 1 108159411 108159411 single base substitution G A downstream_gene_variant MELA-AU 1 108159411 108159411 single base substitution G A intron_variant MELA-AU 1 108159490 108159490 single base substitution C T downstream_gene_variant MELA-AU 1 108159490 108159490 single base substitution C T intron_variant MELA-AU 1 108159855 108159855 single base substitution G C downstream_gene_variant MELA-AU 1 108159855 108159855 single base substitution G C intron_variant MELA-AU 1 108160108 108160108 single base substitution A T downstream_gene_variant MELA-AU 1 108160108 108160108 single base substitution A T intron_variant MELA-AU 1 108160524 108160524 single base substitution A G intron_variant MELA-AU 1 108161035 108161035 single base substitution G A intron_variant MELA-AU 1 108161309 108161309 single base substitution G A intron_variant MELA-AU 1 108161526 108161526 single base substitution G A intron_variant MELA-AU 1 108161674 108161674 single base substitution A C intron_variant MELA-AU 1 108161755 108161755 single base substitution G A intron_variant MELA-AU 1 108161830 108161830 single base substitution G A intron_variant MELA-AU 1 108162150 108162150 single base substitution A G intron_variant MELA-AU 1 108162659 108162659 single base substitution G A intron_variant MELA-AU 1 108162908 108162908 single base substitution A G intron_variant MELA-AU 1 108163063 108163063 single base substitution G A intron_variant MELA-AU 1 108163105 108163105 single base substitution C T intron_variant MELA-AU 1 108163598 108163598 single base substitution A C intron_variant MELA-AU 1 108163760 108163760 single base substitution G A intron_variant MELA-AU 1 108163856 108163856 single base substitution G T intron_variant MELA-AU 1 108164398 108164398 single base substitution C T intron_variant MELA-AU 1 108164433 108164433 single base substitution C T intron_variant MELA-AU 1 108164946 108164946 single base substitution A G intron_variant MELA-AU 1 108165039 108165039 single base substitution A G intron_variant MELA-AU 1 108165265 108165265 single base substitution G A intron_variant MELA-AU 1 108165487 108165487 single base substitution T C intron_variant MELA-AU 1 108165999 108165999 single base substitution C T intron_variant MELA-AU 1 108166407 108166407 single base substitution G A intron_variant MELA-AU 1 108166665 108166665 single base substitution G A intron_variant MELA-AU 1 108167329 108167329 single base substitution A T intron_variant MELA-AU 1 108167483 108167483 single base substitution G A intron_variant MELA-AU 1 108167998 108167998 single base substitution T G intron_variant MELA-AU 1 108168012 108168012 single base substitution C T intron_variant MELA-AU 1 108168057 108168057 single base substitution C T intron_variant MELA-AU 1 108168413 108168413 single base substitution G A intron_variant MELA-AU 1 108168481 108168481 single base substitution T C intron_variant MELA-AU 1 108168830 108168830 single base substitution C T intron_variant MELA-AU 1 108168927 108168927 single base substitution C T intron_variant MELA-AU 1 108169294 108169294 single base substitution A C intron_variant MELA-AU 1 108169998 108169998 single base substitution G A intron_variant MELA-AU 1 108170621 108170621 single base substitution G A intron_variant MELA-AU 1 108170735 108170735 single base substitution G A intron_variant MELA-AU 1 108170854 108170854 single base substitution C T intron_variant MELA-AU 1 108171028 108171028 single base substitution G A intron_variant MELA-AU 1 108172073 108172073 single base substitution T G intron_variant MELA-AU 1 108172180 108172180 single base substitution C T intron_variant MELA-AU 1 108172407 108172407 single base substitution G C intron_variant MELA-AU 1 108172555 108172555 single base substitution G A intron_variant MELA-AU 1 108172609 108172609 single base substitution C T intron_variant MELA-AU 1 108172836 108172836 single base substitution G A intron_variant MELA-AU 1 108172944 108172944 single base substitution G A intron_variant MELA-AU 1 108173250 108173250 single base substitution C T intron_variant MELA-AU 1 108173445 108173445 single base substitution G A intron_variant MELA-AU 1 108173553 108173553 single base substitution C T intron_variant MELA-AU 1 108174113 108174113 single base substitution T C intron_variant MELA-AU 1 108174603 108174603 single base substitution G A intron_variant MELA-AU 1 108175218 108175218 single base substitution G A intron_variant MELA-AU 1 108175481 108175481 single base substitution C T intron_variant MELA-AU 1 108175531 108175531 single base substitution G A intron_variant MELA-AU 1 108175731 108175731 single base substitution G A intron_variant MELA-AU 1 108175732 108175732 single base substitution G A intron_variant MELA-AU 1 108176196 108176196 single base substitution C T intron_variant MELA-AU 1 108176345 108176345 single base substitution C T intron_variant MELA-AU 1 108176635 108176635 single base substitution G A intron_variant MELA-AU 1 108176992 108176992 single base substitution G A intron_variant MELA-AU 1 108178152 108178152 single base substitution T G intron_variant MELA-AU 1 108178264 108178264 single base substitution C T intron_variant MELA-AU 1 108178294 108178294 single base substitution T C intron_variant MELA-AU 1 108178600 108178600 single base substitution G A intron_variant MELA-AU 1 108178716 108178716 single base substitution G A intron_variant MELA-AU 1 108178754 108178754 single base substitution G A intron_variant MELA-AU 1 108178844 108178844 single base substitution C T intron_variant MELA-AU 1 108178957 108178957 single base substitution C T intron_variant MELA-AU 1 108179286 108179286 single base substitution G A intron_variant MELA-AU 1 108179379 108179379 single base substitution C T intron_variant MELA-AU 1 108179895 108179895 single base substitution G A intron_variant MELA-AU 1 108180417 108180417 single base substitution C T intron_variant MELA-AU 1 108180508 108180508 single base substitution G A intron_variant MELA-AU 1 108180580 108180580 single base substitution T A intron_variant MELA-AU 1 108181120 108181120 single base substitution C T intron_variant MELA-AU 1 108181205 108181205 single base substitution G T intron_variant MELA-AU 1 108181223 108181223 single base substitution C T intron_variant MELA-AU 1 108182179 108182179 single base substitution A G intron_variant MELA-AU 1 108182211 108182211 single base substitution A T intron_variant MELA-AU 1 108182621 108182621 single base substitution C T intron_variant MELA-AU 1 108183108 108183108 single base substitution G A intron_variant MELA-AU 1 108183121 108183121 single base substitution G A intron_variant MELA-AU 1 108183178 108183178 single base substitution T G intron_variant MELA-AU 1 108184408 108184408 single base substitution C T intron_variant MELA-AU 1 108184432 108184432 deletion of <=200bp A - intron_variant MELA-AU 1 108184640 108184640 single base substitution C T intron_variant MELA-AU 1 108184700 108184700 single base substitution G A intron_variant MELA-AU 1 108185267 108185267 single base substitution C T 3_prime_UTR_variant MELA-AU 1 108185267 108185267 single base substitution C T exon_variant MELA-AU 1 108185267 108185267 single base substitution C T missense_variant G157R 469G>A MELA-AU 1 108185267 108185267 single base substitution C T missense_variant G34R 100G>A MELA-AU 1 108185267 108185267 single base substitution C T missense_variant G630R 1888G>A MELA-AU 1 108185267 108185267 single base substitution C T missense_variant G70R 208G>A MELA-AU 1 108185290 108185290 single base substitution C T exon_variant MELA-AU 1 108185290 108185290 single base substitution C T missense_variant G149E 446G>A MELA-AU 1 108185290 108185290 single base substitution C T missense_variant G26E 77G>A MELA-AU 1 108185290 108185290 single base substitution C T missense_variant G622E 1865G>A MELA-AU 1 108185290 108185290 single base substitution C T missense_variant G62E 185G>A MELA-AU 1 108185290 108185291 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 108185290 108185291 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G149K 445GG>AA MELA-AU 1 108185290 108185291 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G26K 76GG>AA MELA-AU 1 108185290 108185291 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G622K 1864GG>AA MELA-AU 1 108185290 108185291 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G62K 184GG>AA MELA-AU 1 108185870 108185870 single base substitution G A intron_variant MELA-AU 1 108188035 108188035 single base substitution G A intron_variant MELA-AU 1 108188065 108188065 single base substitution A T intron_variant MELA-AU 1 108188737 108188737 single base substitution C T intron_variant MELA-AU 1 108188849 108188849 single base substitution C T intron_variant MELA-AU 1 108189012 108189012 single base substitution T C intron_variant MELA-AU 1 108189333 108189333 single base substitution T C intron_variant MELA-AU 1 108189515 108189515 single base substitution G A intron_variant MELA-AU 1 108189532 108189532 single base substitution C T intron_variant MELA-AU 1 108189608 108189608 single base substitution C T intron_variant MELA-AU 1 108189625 108189625 single base substitution A G intron_variant MELA-AU 1 108190660 108190660 single base substitution T C intron_variant MELA-AU 1 108191389 108191389 single base substitution C T intron_variant MELA-AU 1 108191445 108191445 single base substitution A G intron_variant MELA-AU 1 108191791 108191791 single base substitution G A intron_variant MELA-AU 1 108192096 108192096 single base substitution C T intron_variant MELA-AU 1 108192193 108192193 single base substitution G C intron_variant MELA-AU 1 108192550 108192550 single base substitution T C intron_variant MELA-AU 1 108192575 108192575 single base substitution G A intron_variant MELA-AU 1 108193222 108193222 single base substitution G A intron_variant MELA-AU 1 108194044 108194044 single base substitution C T intron_variant MELA-AU 1 108194179 108194179 single base substitution G A intron_variant MELA-AU 1 108194413 108194413 single base substitution T C intron_variant MELA-AU 1 108194706 108194706 single base substitution A G intron_variant MELA-AU 1 108194730 108194730 single base substitution G T intron_variant MELA-AU 1 108194795 108194795 single base substitution G A intron_variant MELA-AU 1 108195173 108195173 single base substitution G T intron_variant MELA-AU 1 108195694 108195694 single base substitution G A intron_variant MELA-AU 1 108196178 108196178 single base substitution A T intron_variant MELA-AU 1 108196267 108196267 single base substitution G A intron_variant MELA-AU 1 108196777 108196777 single base substitution G A intron_variant MELA-AU 1 108196947 108196947 single base substitution A T intron_variant MELA-AU 1 108197239 108197239 single base substitution C T intron_variant MELA-AU 1 108197268 108197268 single base substitution C T intron_variant MELA-AU 1 108198458 108198458 single base substitution G A intron_variant MELA-AU 1 108198700 108198700 single base substitution G A intron_variant MELA-AU 1 108199014 108199014 single base substitution C T intron_variant MELA-AU 1 108199275 108199275 single base substitution T A intron_variant MELA-AU 1 108199357 108199357 single base substitution C T intron_variant MELA-AU 1 108199382 108199382 single base substitution G A intron_variant MELA-AU 1 108199499 108199499 single base substitution C T intron_variant MELA-AU 1 108199782 108199782 single base substitution C T intron_variant MELA-AU 1 108200499 108200499 single base substitution A T intron_variant MELA-AU 1 108201826 108201826 single base substitution G A intron_variant MELA-AU 1 108203394 108203394 single base substitution C T intron_variant MELA-AU 1 108203534 108203534 single base substitution T C intron_variant MELA-AU 1 108203571 108203571 single base substitution G A intron_variant MELA-AU 1 108203572 108203572 single base substitution A G intron_variant MELA-AU 1 108203823 108203823 single base substitution C T intron_variant MELA-AU 1 108204518 108204518 single base substitution C T intron_variant MELA-AU 1 108204762 108204762 single base substitution T C intron_variant MELA-AU 1 108204783 108204783 single base substitution G A intron_variant MELA-AU 1 108205017 108205017 single base substitution G A intron_variant MELA-AU 1 108205209 108205209 single base substitution G A intron_variant MELA-AU 1 108205463 108205463 single base substitution G A intron_variant MELA-AU 1 108205859 108205859 single base substitution G A intron_variant MELA-AU 1 108206243 108206243 single base substitution G A intron_variant MELA-AU 1 108206591 108206591 single base substitution G A downstream_gene_variant MELA-AU 1 108206591 108206591 single base substitution G A intron_variant MELA-AU 1 108207194 108207194 single base substitution C T downstream_gene_variant MELA-AU 1 108207194 108207194 single base substitution C T intron_variant MELA-AU 1 108207324 108207324 single base substitution C T downstream_gene_variant MELA-AU 1 108207324 108207324 single base substitution C T intron_variant MELA-AU 1 108207356 108207356 single base substitution T A downstream_gene_variant MELA-AU 1 108207356 108207356 single base substitution T A intron_variant MELA-AU 1 108207395 108207395 single base substitution T C downstream_gene_variant MELA-AU 1 108207395 108207395 single base substitution T C intron_variant MELA-AU 1 108207651 108207651 single base substitution T C downstream_gene_variant MELA-AU 1 108207651 108207651 single base substitution T C intron_variant MELA-AU 1 108208542 108208542 single base substitution C T downstream_gene_variant MELA-AU 1 108208542 108208542 single base substitution C T intron_variant MELA-AU 1 108208587 108208587 single base substitution G A downstream_gene_variant MELA-AU 1 108208587 108208587 single base substitution G A intron_variant MELA-AU 1 108209040 108209040 single base substitution G A downstream_gene_variant MELA-AU 1 108209040 108209040 single base substitution G A intron_variant MELA-AU 1 108209388 108209388 single base substitution C T downstream_gene_variant MELA-AU 1 108209388 108209388 single base substitution C T intron_variant MELA-AU 1 108210261 108210261 single base substitution C G downstream_gene_variant MELA-AU 1 108210261 108210261 single base substitution C G intron_variant MELA-AU 1 108210324 108210324 single base substitution T C downstream_gene_variant MELA-AU 1 108210324 108210324 single base substitution T C intron_variant MELA-AU 1 108210712 108210712 single base substitution G A downstream_gene_variant MELA-AU 1 108210712 108210712 single base substitution G A intron_variant MELA-AU 1 108211649 108211649 single base substitution C T 3_prime_UTR_variant MELA-AU 1 108211649 108211649 single base substitution C T exon_variant MELA-AU 1 108211649 108211649 single base substitution C T intron_variant MELA-AU 1 108211901 108211901 single base substitution T C 3_prime_UTR_variant MELA-AU 1 108211901 108211901 single base substitution T C exon_variant MELA-AU 1 108211901 108211901 single base substitution T C intron_variant MELA-AU 1 108212277 108212277 single base substitution C T intron_variant MELA-AU 1 108212345 108212345 single base substitution C T intron_variant MELA-AU 1 108212917 108212917 single base substitution A T intron_variant MELA-AU 1 108213339 108213339 single base substitution G A intron_variant MELA-AU 1 108213542 108213542 single base substitution C T intron_variant MELA-AU 1 108213809 108213809 single base substitution C T intron_variant MELA-AU 1 108214990 108214990 single base substitution G A intron_variant MELA-AU 1 108215244 108215244 single base substitution C T intron_variant MELA-AU 1 108215375 108215375 single base substitution C T intron_variant MELA-AU 1 108216363 108216363 single base substitution G A intron_variant MELA-AU 1 108216363 108216363 single base substitution G A upstream_gene_variant MELA-AU 1 108216678 108216678 single base substitution C T intron_variant MELA-AU 1 108216678 108216678 single base substitution C T upstream_gene_variant MELA-AU 1 108217157 108217157 single base substitution G A intron_variant MELA-AU 1 108217157 108217157 single base substitution G A upstream_gene_variant MELA-AU 1 108217172 108217172 single base substitution C T intron_variant MELA-AU 1 108217172 108217172 single base substitution C T upstream_gene_variant MELA-AU 1 108217251 108217251 single base substitution A G intron_variant MELA-AU 1 108217251 108217251 single base substitution A G upstream_gene_variant MELA-AU 1 108217376 108217376 single base substitution C T intron_variant MELA-AU 1 108217376 108217376 single base substitution C T upstream_gene_variant MELA-AU 1 108217434 108217434 single base substitution T A intron_variant MELA-AU 1 108217434 108217434 single base substitution T A upstream_gene_variant MELA-AU 1 108217629 108217632 deletion of <=200bp GTAA - intron_variant MELA-AU 1 108217629 108217632 deletion of <=200bp GTAA - upstream_gene_variant MELA-AU 1 108217686 108217686 single base substitution C T intron_variant MELA-AU 1 108217686 108217686 single base substitution C T upstream_gene_variant MELA-AU 1 108217692 108217692 single base substitution G A intron_variant MELA-AU 1 108217692 108217692 single base substitution G A upstream_gene_variant MELA-AU 1 108217697 108217697 single base substitution C T intron_variant MELA-AU 1 108217697 108217697 single base substitution C T upstream_gene_variant MELA-AU 1 108218366 108218366 single base substitution C T intron_variant MELA-AU 1 108218366 108218366 single base substitution C T upstream_gene_variant MELA-AU 1 108218685 108218685 single base substitution G A intron_variant MELA-AU 1 108218685 108218685 single base substitution G A upstream_gene_variant MELA-AU 1 108218951 108218951 single base substitution G A intron_variant MELA-AU 1 108218951 108218951 single base substitution G A upstream_gene_variant MELA-AU 1 108219089 108219089 single base substitution A G intron_variant MELA-AU 1 108219089 108219089 single base substitution A G upstream_gene_variant MELA-AU 1 108219235 108219235 single base substitution C T intron_variant MELA-AU 1 108219235 108219235 single base substitution C T upstream_gene_variant MELA-AU 1 108219318 108219318 deletion of <=200bp G - intron_variant MELA-AU 1 108219318 108219318 deletion of <=200bp G - upstream_gene_variant MELA-AU 1 108219636 108219636 single base substitution G A intron_variant MELA-AU 1 108219636 108219636 single base substitution G A upstream_gene_variant MELA-AU 1 108220236 108220236 single base substitution G A intron_variant MELA-AU 1 108220236 108220236 single base substitution G A upstream_gene_variant MELA-AU 1 108220542 108220542 single base substitution C T exon_variant MELA-AU 1 108220542 108220542 single base substitution C T intron_variant MELA-AU 1 108220542 108220542 single base substitution C T upstream_gene_variant MELA-AU 1 108220634 108220634 single base substitution C T intron_variant MELA-AU 1 108220634 108220634 single base substitution C T upstream_gene_variant MELA-AU 1 108220889 108220889 single base substitution A G intron_variant MELA-AU 1 108220889 108220889 single base substitution A G upstream_gene_variant MELA-AU 1 108221623 108221623 single base substitution G A intron_variant MELA-AU 1 108221623 108221623 single base substitution G A upstream_gene_variant MELA-AU 1 108221714 108221714 single base substitution G A intron_variant MELA-AU 1 108221714 108221714 single base substitution G A upstream_gene_variant MELA-AU 1 108222154 108222154 single base substitution C T intron_variant MELA-AU 1 108222154 108222154 single base substitution C T upstream_gene_variant MELA-AU 1 108222346 108222346 single base substitution G A intron_variant MELA-AU 1 108222346 108222346 single base substitution G A upstream_gene_variant MELA-AU 1 108223312 108223312 single base substitution G A intron_variant MELA-AU 1 108223312 108223312 single base substitution G A upstream_gene_variant MELA-AU 1 108223396 108223396 single base substitution C T intron_variant MELA-AU 1 108223396 108223396 single base substitution C T upstream_gene_variant MELA-AU 1 108223408 108223408 single base substitution G C intron_variant MELA-AU 1 108223408 108223408 single base substitution G C upstream_gene_variant MELA-AU 1 108223769 108223769 single base substitution A T intron_variant MELA-AU 1 108223769 108223769 single base substitution A T upstream_gene_variant MELA-AU 1 108224399 108224399 single base substitution C T intron_variant MELA-AU 1 108224399 108224399 single base substitution C T upstream_gene_variant MELA-AU 1 108224517 108224517 single base substitution C T intron_variant MELA-AU 1 108224517 108224517 single base substitution C T upstream_gene_variant MELA-AU 1 108224581 108224581 single base substitution C T intron_variant MELA-AU 1 108224581 108224581 single base substitution C T upstream_gene_variant MELA-AU 1 108224798 108224798 single base substitution G A intron_variant MELA-AU 1 108224798 108224798 single base substitution G A upstream_gene_variant MELA-AU 1 108225068 108225068 single base substitution G A intron_variant MELA-AU 1 108225068 108225068 single base substitution G A upstream_gene_variant MELA-AU 1 108225467 108225467 single base substitution G A intron_variant MELA-AU 1 108225467 108225467 single base substitution G A upstream_gene_variant MELA-AU 1 108225906 108225906 single base substitution G A intron_variant MELA-AU 1 108226212 108226212 single base substitution T A intron_variant MELA-AU 1 108227369 108227369 single base substitution G A intron_variant MELA-AU 1 108227374 108227374 single base substitution G A intron_variant MELA-AU 1 108228076 108228076 single base substitution C T intron_variant MELA-AU 1 108228750 108228750 single base substitution C T intron_variant MELA-AU 1 108228750 108228750 single base substitution C T upstream_gene_variant MELA-AU 1 108228941 108228941 single base substitution T A intron_variant MELA-AU 1 108228941 108228941 single base substitution T A upstream_gene_variant MELA-AU 1 108228943 108228943 single base substitution A G intron_variant MELA-AU 1 108228943 108228943 single base substitution A G upstream_gene_variant MELA-AU 1 108229159 108229159 single base substitution G A intron_variant MELA-AU 1 108229159 108229159 single base substitution G A upstream_gene_variant MELA-AU 1 108229249 108229249 single base substitution C T intron_variant MELA-AU 1 108229249 108229249 single base substitution C T upstream_gene_variant MELA-AU 1 108229362 108229362 single base substitution C T intron_variant MELA-AU 1 108229362 108229362 single base substitution C T upstream_gene_variant MELA-AU 1 108229379 108229379 single base substitution C T intron_variant MELA-AU 1 108229379 108229379 single base substitution C T upstream_gene_variant MELA-AU 1 108229513 108229513 single base substitution T C intron_variant MELA-AU 1 108229513 108229513 single base substitution T C upstream_gene_variant MELA-AU 1 108229607 108229621 deletion of <=200bp CAAGGTTTCTTTCTC - intron_variant MELA-AU 1 108229607 108229621 deletion of <=200bp CAAGGTTTCTTTCTC - upstream_gene_variant MELA-AU 1 108230072 108230072 single base substitution C T intron_variant MELA-AU 1 108230072 108230072 single base substitution C T upstream_gene_variant MELA-AU 1 108232032 108232033 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108232032 108232033 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 108232314 108232314 single base substitution G A intron_variant MELA-AU 1 108232314 108232314 single base substitution G A upstream_gene_variant MELA-AU 1 108232341 108232341 single base substitution C T intron_variant MELA-AU 1 108232341 108232341 single base substitution C T upstream_gene_variant MELA-AU 1 108232935 108232935 single base substitution G A intron_variant MELA-AU 1 108232935 108232935 single base substitution G A upstream_gene_variant MELA-AU 1 108233409 108233410 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108233409 108233410 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 108233726 108233726 single base substitution T C intron_variant MELA-AU 1 108233726 108233726 single base substitution T C upstream_gene_variant MELA-AU 1 108234385 108234385 single base substitution C T intron_variant MELA-AU 1 108234385 108234385 single base substitution C T upstream_gene_variant MELA-AU 1 108234863 108234863 single base substitution G A intron_variant MELA-AU 1 108234863 108234863 single base substitution G A upstream_gene_variant MELA-AU 1 108235507 108235507 single base substitution C T intron_variant MELA-AU 1 108235507 108235507 single base substitution C T upstream_gene_variant MELA-AU 1 108235684 108235684 single base substitution G A intron_variant MELA-AU 1 108235684 108235684 single base substitution G A upstream_gene_variant MELA-AU 1 108235869 108235869 single base substitution G A intron_variant MELA-AU 1 108235869 108235869 single base substitution G A upstream_gene_variant MELA-AU 1 108236379 108236379 single base substitution G A intron_variant MELA-AU 1 108236404 108236404 single base substitution C T intron_variant MELA-AU 1 108236771 108236771 single base substitution A G intron_variant MELA-AU 1 108237208 108237208 single base substitution G A intron_variant MELA-AU 1 108237237 108237237 single base substitution C T intron_variant MELA-AU 1 108237423 108237424 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108237985 108237985 single base substitution G A intron_variant MELA-AU 1 108238051 108238051 single base substitution G A intron_variant MELA-AU 1 108238152 108238152 single base substitution G A intron_variant MELA-AU 1 108238451 108238451 single base substitution A G intron_variant MELA-AU 1 108238471 108238471 single base substitution C A intron_variant MELA-AU 1 108238474 108238474 single base substitution G A intron_variant MELA-AU 1 108238841 108238841 single base substitution A T intron_variant MELA-AU 1 108239051 108239051 single base substitution A T intron_variant MELA-AU 1 108239085 108239085 single base substitution C T intron_variant MELA-AU 1 108239185 108239185 single base substitution C T intron_variant MELA-AU 1 108239253 108239253 single base substitution G A intron_variant MELA-AU 1 108239297 108239297 single base substitution G A intron_variant MELA-AU 1 108239488 108239488 single base substitution C A intron_variant MELA-AU 1 108240258 108240258 single base substitution T C intron_variant MELA-AU 1 108240979 108240979 single base substitution G A intron_variant MELA-AU 1 108241258 108241258 single base substitution T C intron_variant MELA-AU 1 108241288 108241288 single base substitution G A intron_variant MELA-AU 1 108241434 108241434 single base substitution C T intron_variant MELA-AU 1 108241609 108241609 single base substitution G A intron_variant MELA-AU 1 108241867 108241867 single base substitution A T intron_variant MELA-AU 1 108241878 108241878 single base substitution C T intron_variant MELA-AU 1 108242634 108242634 single base substitution C T intron_variant MELA-AU 1 108242866 108242866 single base substitution G A intron_variant MELA-AU 1 108242972 108242972 single base substitution T C intron_variant MELA-AU 1 108243023 108243023 single base substitution A C intron_variant MELA-AU 1 108243118 108243118 single base substitution C T intron_variant MELA-AU 1 108243230 108243230 single base substitution C T intron_variant MELA-AU 1 108244108 108244108 single base substitution G A intron_variant MELA-AU 1 108244224 108244224 single base substitution C T intron_variant MELA-AU 1 108245088 108245088 single base substitution A G intron_variant MELA-AU 1 108245404 108245404 single base substitution A G intron_variant MELA-AU 1 108245452 108245452 single base substitution C T intron_variant MELA-AU 1 108246330 108246330 single base substitution C T intron_variant MELA-AU 1 108246634 108246634 single base substitution G A intron_variant MELA-AU 1 108246732 108246732 single base substitution G A intron_variant MELA-AU 1 108246790 108246790 single base substitution G A intron_variant MELA-AU 1 108246807 108246807 single base substitution G A intron_variant MELA-AU 1 108247359 108247359 single base substitution C T intron_variant MELA-AU 1 108247522 108247522 single base substitution G A intron_variant MELA-AU 1 108247694 108247694 single base substitution G A intron_variant MELA-AU 1 108248157 108248157 single base substitution T C intron_variant MELA-AU 1 108248565 108248565 single base substitution A G intron_variant MELA-AU 1 108248939 108248939 single base substitution G A intron_variant MELA-AU 1 108249116 108249116 single base substitution G A intron_variant MELA-AU 1 108249666 108249666 single base substitution C T intron_variant MELA-AU 1 108249871 108249871 single base substitution G A intron_variant MELA-AU 1 108249956 108249956 single base substitution C T intron_variant MELA-AU 1 108250123 108250123 single base substitution T A intron_variant MELA-AU 1 108250409 108250409 single base substitution G A intron_variant MELA-AU 1 108250555 108250555 single base substitution C T intron_variant MELA-AU 1 108250857 108250857 single base substitution C T intron_variant MELA-AU 1 108251003 108251003 single base substitution A T intron_variant MELA-AU 1 108251031 108251031 single base substitution C T intron_variant MELA-AU 1 108251276 108251276 single base substitution C T intron_variant MELA-AU 1 108251375 108251375 single base substitution G A intron_variant MELA-AU 1 108251402 108251402 single base substitution C T intron_variant MELA-AU 1 108251464 108251464 single base substitution C T intron_variant MELA-AU 1 108251616 108251616 single base substitution G A intron_variant MELA-AU 1 108251923 108251923 single base substitution C T intron_variant MELA-AU 1 108251950 108251950 single base substitution T G intron_variant MELA-AU 1 108252249 108252249 single base substitution C T intron_variant MELA-AU 1 108252317 108252318 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 108252403 108252403 single base substitution G A intron_variant MELA-AU 1 108252766 108252766 single base substitution C T intron_variant MELA-AU 1 108253364 108253364 single base substitution C T intron_variant MELA-AU 1 108253508 108253508 single base substitution T C intron_variant MELA-AU 1 108253775 108253775 single base substitution G A intron_variant MELA-AU 1 108254012 108254012 single base substitution C T intron_variant MELA-AU 1 108254088 108254088 single base substitution C T intron_variant MELA-AU 1 108254154 108254154 single base substitution G A intron_variant MELA-AU 1 108254248 108254248 single base substitution C T intron_variant MELA-AU 1 108254404 108254404 single base substitution G A intron_variant MELA-AU 1 108254571 108254571 single base substitution G T intron_variant MELA-AU 1 108254714 108254714 single base substitution C T intron_variant MELA-AU 1 108254719 108254720 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 1 108255042 108255042 single base substitution C T intron_variant MELA-AU 1 108255237 108255237 single base substitution G A intron_variant MELA-AU 1 108255916 108255916 single base substitution G A intron_variant MELA-AU 1 108256077 108256077 single base substitution C T intron_variant MELA-AU 1 108256116 108256116 single base substitution G A intron_variant MELA-AU 1 108256770 108256770 single base substitution A T intron_variant MELA-AU 1 108256773 108256773 single base substitution A T intron_variant MELA-AU 1 108256807 108256807 single base substitution G A intron_variant MELA-AU 1 108257140 108257140 single base substitution G A intron_variant MELA-AU 1 108258666 108258666 single base substitution C T intron_variant MELA-AU 1 108258795 108258795 single base substitution T A intron_variant MELA-AU 1 108259044 108259044 single base substitution G A intron_variant MELA-AU 1 108259447 108259448 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108259480 108259480 single base substitution C T intron_variant MELA-AU 1 108259624 108259624 single base substitution C T intron_variant MELA-AU 1 108260189 108260189 single base substitution C T intron_variant MELA-AU 1 108260236 108260236 single base substitution G A intron_variant MELA-AU 1 108260326 108260326 single base substitution G A intron_variant MELA-AU 1 108260412 108260412 single base substitution C T intron_variant MELA-AU 1 108260431 108260431 single base substitution C T intron_variant MELA-AU 1 108260518 108260518 single base substitution G A intron_variant MELA-AU 1 108260844 108260844 single base substitution G A intron_variant MELA-AU 1 108261011 108261011 single base substitution C T intron_variant MELA-AU 1 108261283 108261283 single base substitution C T intron_variant MELA-AU 1 108261425 108261425 single base substitution A G intron_variant MELA-AU 1 108261499 108261499 single base substitution G A intron_variant MELA-AU 1 108261831 108261831 single base substitution G A intron_variant MELA-AU 1 108261939 108261939 single base substitution G A intron_variant MELA-AU 1 108262178 108262178 single base substitution G A intron_variant MELA-AU 1 108262278 108262278 single base substitution C T intron_variant MELA-AU 1 108262586 108262586 single base substitution A C intron_variant MELA-AU 1 108262630 108262630 single base substitution A T intron_variant MELA-AU 1 108262692 108262692 single base substitution G A intron_variant MELA-AU 1 108262916 108262916 single base substitution G A intron_variant MELA-AU 1 108263007 108263007 insertion of <=200bp - AAAT intron_variant MELA-AU 1 108263037 108263037 single base substitution A G intron_variant MELA-AU 1 108263208 108263208 single base substitution G A intron_variant MELA-AU 1 108263235 108263235 single base substitution G A intron_variant MELA-AU 1 108263463 108263463 single base substitution C T intron_variant MELA-AU 1 108263860 108263860 single base substitution G A intron_variant MELA-AU 1 108264059 108264059 single base substitution G A intron_variant MELA-AU 1 108264645 108264645 single base substitution C T intron_variant MELA-AU 1 108264969 108264969 single base substitution G A intron_variant MELA-AU 1 108264971 108264971 single base substitution G A intron_variant MELA-AU 1 108265365 108265366 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108265609 108265609 single base substitution G A intron_variant MELA-AU 1 108266166 108266166 single base substitution G A intron_variant MELA-AU 1 108266217 108266217 single base substitution G A intron_variant MELA-AU 1 108267458 108267458 single base substitution G A intron_variant MELA-AU 1 108267601 108267601 single base substitution G A intron_variant MELA-AU 1 108268019 108268019 single base substitution G A intron_variant MELA-AU 1 108268417 108268417 single base substitution G A intron_variant MELA-AU 1 108268585 108268585 single base substitution C T intron_variant MELA-AU 1 108268614 108268614 single base substitution G A intron_variant MELA-AU 1 108268627 108268627 single base substitution C T intron_variant MELA-AU 1 108268964 108268964 single base substitution G A intron_variant MELA-AU 1 108269326 108269326 single base substitution A G intron_variant MELA-AU 1 108269347 108269347 single base substitution C T intron_variant MELA-AU 1 108269383 108269383 single base substitution G A intron_variant MELA-AU 1 108269938 108269938 single base substitution C T intron_variant MELA-AU 1 108270244 108270244 single base substitution A G intron_variant MELA-AU 1 108270434 108270434 single base substitution G A intron_variant MELA-AU 1 108270444 108270444 single base substitution A T intron_variant MELA-AU 1 108270603 108270603 single base substitution G A intron_variant MELA-AU 1 108270925 108270925 single base substitution G A intron_variant MELA-AU 1 108271155 108271155 single base substitution G A intron_variant MELA-AU 1 108271222 108271222 single base substitution C T intron_variant MELA-AU 1 108271854 108271855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108272017 108272017 single base substitution G A intron_variant MELA-AU 1 108272024 108272024 single base substitution G A intron_variant MELA-AU 1 108272172 108272172 single base substitution G A intron_variant MELA-AU 1 108272306 108272306 single base substitution G A intron_variant MELA-AU 1 108273005 108273005 single base substitution C T intron_variant MELA-AU 1 108273911 108273911 single base substitution C T intron_variant MELA-AU 1 108273978 108273978 single base substitution C T intron_variant MELA-AU 1 108274117 108274118 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108274401 108274401 single base substitution T G intron_variant MELA-AU 1 108274459 108274459 single base substitution T A intron_variant MELA-AU 1 108274572 108274572 single base substitution C A intron_variant MELA-AU 1 108274989 108274989 single base substitution A C intron_variant MELA-AU 1 108275174 108275174 single base substitution G A intron_variant MELA-AU 1 108275313 108275313 single base substitution G A intron_variant MELA-AU 1 108275724 108275724 single base substitution G A intron_variant MELA-AU 1 108276083 108276083 single base substitution C T intron_variant MELA-AU 1 108276089 108276089 single base substitution C T intron_variant MELA-AU 1 108276228 108276228 single base substitution G A intron_variant MELA-AU 1 108276294 108276294 single base substitution G T intron_variant MELA-AU 1 108276410 108276410 single base substitution G A intron_variant MELA-AU 1 108277421 108277421 single base substitution G A intron_variant MELA-AU 1 108277656 108277656 single base substitution G A intron_variant MELA-AU 1 108277678 108277678 single base substitution C T intron_variant MELA-AU 1 108277699 108277699 single base substitution G A intron_variant MELA-AU 1 108277773 108277773 single base substitution G C intron_variant MELA-AU 1 108278420 108278420 single base substitution C T intron_variant MELA-AU 1 108278423 108278423 single base substitution C T intron_variant MELA-AU 1 108278458 108278458 single base substitution C T intron_variant MELA-AU 1 108278758 108278758 single base substitution G A intron_variant MELA-AU 1 108279162 108279162 single base substitution C T intron_variant MELA-AU 1 108279492 108279492 single base substitution G A intron_variant MELA-AU 1 108280848 108280848 single base substitution G A intron_variant MELA-AU 1 108283227 108283227 single base substitution T A intron_variant MELA-AU 1 108283739 108283739 single base substitution C T intron_variant MELA-AU 1 108284561 108284561 single base substitution G A intron_variant MELA-AU 1 108284664 108284664 single base substitution G A intron_variant MELA-AU 1 108285169 108285169 single base substitution C T intron_variant MELA-AU 1 108285294 108285294 single base substitution T G intron_variant MELA-AU 1 108285545 108285545 single base substitution C T intron_variant MELA-AU 1 108285778 108285778 single base substitution C T intron_variant MELA-AU 1 108286251 108286251 single base substitution G A intron_variant MELA-AU 1 108286481 108286481 single base substitution C T intron_variant MELA-AU 1 108287062 108287062 single base substitution C T intron_variant MELA-AU 1 108287622 108287622 single base substitution C T intron_variant MELA-AU 1 108287764 108287764 single base substitution C T intron_variant MELA-AU 1 108287865 108287865 single base substitution C T intron_variant MELA-AU 1 108288064 108288064 single base substitution C T intron_variant MELA-AU 1 108288208 108288208 single base substitution G A intron_variant MELA-AU 1 108288842 108288842 single base substitution G A intron_variant MELA-AU 1 108289287 108289287 single base substitution C T intron_variant MELA-AU 1 108289818 108289818 single base substitution C T intron_variant MELA-AU 1 108289889 108289889 single base substitution G A intron_variant MELA-AU 1 108289972 108289972 single base substitution G A intron_variant MELA-AU 1 108290843 108290843 single base substitution C T intron_variant MELA-AU 1 108290853 108290853 single base substitution C T intron_variant MELA-AU 1 108291030 108291030 single base substitution T A intron_variant MELA-AU 1 108292186 108292186 single base substitution G A exon_variant MELA-AU 1 108292186 108292186 single base substitution G A synonymous_variant I365I 1095C>T MELA-AU 1 108292186 108292186 single base substitution G A synonymous_variant I424I 1272C>T MELA-AU 1 108292186 108292186 single base substitution G A synonymous_variant I430I 1290C>T MELA-AU 1 108292186 108292186 single base substitution G A upstream_gene_variant MELA-AU 1 108292221 108292221 single base substitution G A splice_region_variant MELA-AU 1 108292221 108292221 single base substitution G A upstream_gene_variant MELA-AU 1 108292227 108292227 single base substitution G T intron_variant MELA-AU 1 108292227 108292227 single base substitution G T upstream_gene_variant MELA-AU 1 108292943 108292943 single base substitution C T intron_variant MELA-AU 1 108292943 108292943 single base substitution C T upstream_gene_variant MELA-AU 1 108293058 108293058 single base substitution T A intron_variant MELA-AU 1 108293058 108293058 single base substitution T A upstream_gene_variant MELA-AU 1 108293706 108293707 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 1 108293706 108293707 multiple base substitution (>=2bp and <=200bp) CT TA upstream_gene_variant MELA-AU 1 108293799 108293799 single base substitution C T exon_variant MELA-AU 1 108293799 108293799 single base substitution C T missense_variant R335Q 1004G>A MELA-AU 1 108293799 108293799 single base substitution C T missense_variant R394Q 1181G>A MELA-AU 1 108293799 108293799 single base substitution C T missense_variant R400Q 1199G>A MELA-AU 1 108293799 108293799 single base substitution C T upstream_gene_variant MELA-AU 1 108293819 108293819 single base substitution T A exon_variant MELA-AU 1 108293819 108293819 single base substitution T A missense_variant Q328H 984A>T MELA-AU 1 108293819 108293819 single base substitution T A missense_variant Q387H 1161A>T MELA-AU 1 108293819 108293819 single base substitution T A missense_variant Q393H 1179A>T MELA-AU 1 108293819 108293819 single base substitution T A upstream_gene_variant MELA-AU 1 108294638 108294638 single base substitution G A intron_variant MELA-AU 1 108294638 108294638 single base substitution G A upstream_gene_variant MELA-AU 1 108294832 108294832 single base substitution C A intron_variant MELA-AU 1 108294832 108294832 single base substitution C A upstream_gene_variant MELA-AU 1 108294923 108294923 single base substitution G A intron_variant MELA-AU 1 108294923 108294923 single base substitution G A upstream_gene_variant MELA-AU 1 108295144 108295144 single base substitution G A intron_variant MELA-AU 1 108295144 108295144 single base substitution G A upstream_gene_variant MELA-AU 1 108295280 108295280 single base substitution C G intron_variant MELA-AU 1 108295280 108295280 single base substitution C G upstream_gene_variant MELA-AU 1 108295662 108295662 single base substitution G A intron_variant MELA-AU 1 108295662 108295662 single base substitution G A upstream_gene_variant MELA-AU 1 108295690 108295690 single base substitution G A intron_variant MELA-AU 1 108295690 108295690 single base substitution G A upstream_gene_variant MELA-AU 1 108295767 108295767 single base substitution G A intron_variant MELA-AU 1 108295767 108295767 single base substitution G A upstream_gene_variant MELA-AU 1 108295814 108295814 single base substitution A T intron_variant MELA-AU 1 108295814 108295814 single base substitution A T upstream_gene_variant MELA-AU 1 108296278 108296278 single base substitution T G intron_variant MELA-AU 1 108296278 108296278 single base substitution T G upstream_gene_variant MELA-AU 1 108296546 108296546 single base substitution G A intron_variant MELA-AU 1 108296546 108296546 single base substitution G A upstream_gene_variant MELA-AU 1 108296559 108296559 single base substitution G A intron_variant MELA-AU 1 108296559 108296559 single base substitution G A upstream_gene_variant MELA-AU 1 108296814 108296814 single base substitution G A intron_variant MELA-AU 1 108296814 108296814 single base substitution G A upstream_gene_variant MELA-AU 1 108296967 108296967 single base substitution G A intron_variant MELA-AU 1 108296967 108296967 single base substitution G A upstream_gene_variant MELA-AU 1 108297037 108297037 single base substitution G A intron_variant MELA-AU 1 108297037 108297037 single base substitution G A upstream_gene_variant MELA-AU 1 108297585 108297585 single base substitution C T intron_variant MELA-AU 1 108297662 108297662 single base substitution C T intron_variant MELA-AU 1 108297769 108297769 single base substitution G A intron_variant MELA-AU 1 108297927 108297927 single base substitution G A intron_variant MELA-AU 1 108297943 108297943 single base substitution C T intron_variant MELA-AU 1 108298069 108298069 single base substitution G A exon_variant MELA-AU 1 108298069 108298069 single base substitution G A stop_gained Q320* 958C>T MELA-AU 1 108298069 108298069 single base substitution G A stop_gained Q379* 1135C>T MELA-AU 1 108298069 108298069 single base substitution G A stop_gained Q385* 1153C>T MELA-AU 1 108298087 108298087 single base substitution G A exon_variant MELA-AU 1 108298087 108298087 single base substitution G A missense_variant R314C 940C>T MELA-AU 1 108298087 108298087 single base substitution G A missense_variant R373C 1117C>T MELA-AU 1 108298087 108298087 single base substitution G A missense_variant R379C 1135C>T MELA-AU 1 108298494 108298494 single base substitution T A intron_variant MELA-AU 1 108298512 108298512 single base substitution G A intron_variant MELA-AU 1 108298565 108298565 single base substitution G A intron_variant MELA-AU 1 108298757 108298757 single base substitution A T intron_variant MELA-AU 1 108299254 108299254 single base substitution C T intron_variant MELA-AU 1 108299542 108299542 single base substitution T A intron_variant MELA-AU 1 108299684 108299684 single base substitution C T intron_variant MELA-AU 1 108299685 108299685 single base substitution C T intron_variant MELA-AU 1 108300479 108300479 single base substitution T G intron_variant MELA-AU 1 108300484 108300484 single base substitution C T intron_variant MELA-AU 1 108300564 108300564 single base substitution G A intron_variant MELA-AU 1 108300805 108300805 single base substitution C A intron_variant MELA-AU 1 108300807 108300807 single base substitution C T intron_variant MELA-AU 1 108300815 108300815 single base substitution C T intron_variant MELA-AU 1 108300968 108300968 single base substitution G A intron_variant MELA-AU 1 108301051 108301051 single base substitution G A intron_variant MELA-AU 1 108301520 108301520 single base substitution T A intron_variant MELA-AU 1 108301546 108301546 single base substitution C T intron_variant MELA-AU 1 108301613 108301613 single base substitution G A intron_variant MELA-AU 1 108301746 108301746 single base substitution A C intron_variant MELA-AU 1 108302171 108302171 single base substitution G A intron_variant MELA-AU 1 108302174 108302174 single base substitution G A intron_variant MELA-AU 1 108302294 108302294 single base substitution G A intron_variant MELA-AU 1 108302367 108302367 single base substitution A T intron_variant MELA-AU 1 108302655 108302655 single base substitution G A intron_variant MELA-AU 1 108302886 108302886 single base substitution C T intron_variant MELA-AU 1 108302918 108302918 single base substitution T G intron_variant MELA-AU 1 108302925 108302925 single base substitution C A intron_variant MELA-AU 1 108303871 108303871 single base substitution C G intron_variant MELA-AU 1 108304145 108304145 single base substitution G A downstream_gene_variant MELA-AU 1 108304145 108304145 single base substitution G A intron_variant MELA-AU 1 108304230 108304230 single base substitution C T downstream_gene_variant MELA-AU 1 108304230 108304230 single base substitution C T intron_variant MELA-AU 1 108304455 108304455 single base substitution G A downstream_gene_variant MELA-AU 1 108304455 108304455 single base substitution G A intron_variant MELA-AU 1 108304676 108304676 single base substitution G A downstream_gene_variant MELA-AU 1 108304676 108304676 single base substitution G A intron_variant MELA-AU 1 108305355 108305355 single base substitution C T downstream_gene_variant MELA-AU 1 108305355 108305355 single base substitution C T intron_variant MELA-AU 1 108305586 108305586 single base substitution C T downstream_gene_variant MELA-AU 1 108305586 108305586 single base substitution C T intron_variant MELA-AU 1 108305719 108305719 single base substitution C T downstream_gene_variant MELA-AU 1 108305719 108305719 single base substitution C T intron_variant MELA-AU 1 108306554 108306554 single base substitution C T downstream_gene_variant MELA-AU 1 108306554 108306554 single base substitution C T intron_variant MELA-AU 1 108307055 108307055 single base substitution T A downstream_gene_variant MELA-AU 1 108307055 108307055 single base substitution T A intron_variant MELA-AU 1 108307265 108307265 single base substitution T G downstream_gene_variant MELA-AU 1 108307265 108307265 single base substitution T G intron_variant MELA-AU 1 108307659 108307659 single base substitution T C downstream_gene_variant MELA-AU 1 108307659 108307659 single base substitution T C intron_variant MELA-AU 1 108307785 108307785 single base substitution G A downstream_gene_variant MELA-AU 1 108307785 108307785 single base substitution G A exon_variant MELA-AU 1 108307785 108307785 single base substitution G A synonymous_variant Y213Y 639C>T MELA-AU 1 108307785 108307785 single base substitution G A synonymous_variant Y272Y 816C>T MELA-AU 1 108307785 108307785 single base substitution G A synonymous_variant Y278Y 834C>T MELA-AU 1 108307841 108307841 single base substitution G A downstream_gene_variant MELA-AU 1 108307841 108307841 single base substitution G A intron_variant MELA-AU 1 108308006 108308006 single base substitution G A downstream_gene_variant MELA-AU 1 108308006 108308006 single base substitution G A intron_variant MELA-AU 1 108308344 108308344 single base substitution C A downstream_gene_variant MELA-AU 1 108308344 108308344 single base substitution C A intron_variant MELA-AU 1 108308359 108308359 single base substitution C T downstream_gene_variant MELA-AU 1 108308359 108308359 single base substitution C T intron_variant MELA-AU 1 108308868 108308868 single base substitution C T downstream_gene_variant MELA-AU 1 108308868 108308868 single base substitution C T intron_variant MELA-AU 1 108308931 108308931 single base substitution G A downstream_gene_variant MELA-AU 1 108308931 108308931 single base substitution G A intron_variant MELA-AU 1 108309154 108309154 single base substitution G A downstream_gene_variant MELA-AU 1 108309154 108309154 single base substitution G A exon_variant MELA-AU 1 108309154 108309154 single base substitution G A missense_variant R181W 541C>T MELA-AU 1 108309154 108309154 single base substitution G A missense_variant R240W 718C>T MELA-AU 1 108309154 108309154 single base substitution G A missense_variant R246W 736C>T MELA-AU 1 108309198 108309198 single base substitution G A downstream_gene_variant MELA-AU 1 108309198 108309198 single base substitution G A intron_variant MELA-AU 1 108309358 108309358 single base substitution G A downstream_gene_variant MELA-AU 1 108309358 108309358 single base substitution G A intron_variant MELA-AU 1 108309784 108309784 single base substitution C T downstream_gene_variant MELA-AU 1 108309784 108309784 single base substitution C T intron_variant MELA-AU 1 108309797 108309797 single base substitution G A downstream_gene_variant MELA-AU 1 108309797 108309797 single base substitution G A intron_variant MELA-AU 1 108309826 108309826 single base substitution C T downstream_gene_variant MELA-AU 1 108309826 108309826 single base substitution C T intron_variant MELA-AU 1 108310159 108310160 multiple base substitution (>=2bp and <=200bp) CA AG downstream_gene_variant MELA-AU 1 108310159 108310160 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 1 108310468 108310468 single base substitution T A downstream_gene_variant MELA-AU 1 108310468 108310468 single base substitution T A intron_variant MELA-AU 1 108310520 108310520 single base substitution G A downstream_gene_variant MELA-AU 1 108310520 108310520 single base substitution G A intron_variant MELA-AU 1 108310571 108310571 single base substitution G A downstream_gene_variant MELA-AU 1 108310571 108310571 single base substitution G A intron_variant MELA-AU 1 108310733 108310733 single base substitution C T downstream_gene_variant MELA-AU 1 108310733 108310733 single base substitution C T intron_variant MELA-AU 1 108310989 108310989 single base substitution G A downstream_gene_variant MELA-AU 1 108310989 108310989 single base substitution G A intron_variant MELA-AU 1 108311006 108311006 single base substitution G A downstream_gene_variant MELA-AU 1 108311006 108311006 single base substitution G A intron_variant MELA-AU 1 108311007 108311007 single base substitution G A downstream_gene_variant MELA-AU 1 108311007 108311007 single base substitution G A intron_variant MELA-AU 1 108311287 108311287 single base substitution G A downstream_gene_variant MELA-AU 1 108311287 108311287 single base substitution G A intron_variant MELA-AU 1 108311352 108311353 multiple base substitution (>=2bp and <=200bp) AA TT downstream_gene_variant MELA-AU 1 108311352 108311353 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 1 108311755 108311755 single base substitution G A downstream_gene_variant MELA-AU 1 108311755 108311755 single base substitution G A intron_variant MELA-AU 1 108311821 108311821 single base substitution T C downstream_gene_variant MELA-AU 1 108311821 108311821 single base substitution T C intron_variant MELA-AU 1 108311872 108311872 single base substitution C T downstream_gene_variant MELA-AU 1 108311872 108311872 single base substitution C T intron_variant MELA-AU 1 108312415 108312415 single base substitution C T downstream_gene_variant MELA-AU 1 108312415 108312415 single base substitution C T intron_variant MELA-AU 1 108313268 108313268 single base substitution G A downstream_gene_variant MELA-AU 1 108313268 108313268 single base substitution G A exon_variant MELA-AU 1 108313268 108313268 single base substitution G A missense_variant S148L 443C>T MELA-AU 1 108313268 108313268 single base substitution G A missense_variant S207L 620C>T MELA-AU 1 108313268 108313268 single base substitution G A missense_variant S213L 638C>T MELA-AU 1 108313349 108313349 single base substitution T A missense_variant K121I 362A>T MELA-AU 1 108313349 108313349 single base substitution T A missense_variant K180I 539A>T MELA-AU 1 108313349 108313349 single base substitution T A missense_variant K186I 557A>T MELA-AU 1 108313349 108313349 single base substitution T A splice_region_variant MELA-AU 1 108313378 108313378 single base substitution G A intron_variant MELA-AU 1 108313449 108313449 single base substitution C T intron_variant MELA-AU 1 108313955 108313955 single base substitution A G intron_variant MELA-AU 1 108314283 108314283 single base substitution A G intron_variant MELA-AU 1 108314569 108314569 single base substitution C T intron_variant MELA-AU 1 108314736 108314736 single base substitution G A intron_variant MELA-AU 1 108314806 108314806 single base substitution G A intron_variant MELA-AU 1 108315049 108315049 single base substitution C T intron_variant MELA-AU 1 108315116 108315116 single base substitution C T intron_variant MELA-AU 1 108315266 108315266 single base substitution A T intron_variant MELA-AU 1 108315459 108315459 single base substitution G A exon_variant MELA-AU 1 108315459 108315459 single base substitution G A synonymous_variant T145T 435C>T MELA-AU 1 108315459 108315459 single base substitution G A synonymous_variant T151T 453C>T MELA-AU 1 108315459 108315459 single base substitution G A synonymous_variant T86T 258C>T MELA-AU 1 108315554 108315554 single base substitution C T intron_variant MELA-AU 1 108316452 108316452 single base substitution G A intron_variant MELA-AU 1 108316634 108316634 single base substitution C T intron_variant MELA-AU 1 108316656 108316656 single base substitution C T intron_variant MELA-AU 1 108316996 108316996 single base substitution C T intron_variant MELA-AU 1 108317228 108317228 single base substitution C T intron_variant MELA-AU 1 108317544 108317544 single base substitution T G intron_variant MELA-AU 1 108317583 108317583 single base substitution C T intron_variant MELA-AU 1 108317621 108317621 single base substitution G A intron_variant MELA-AU 1 108317702 108317702 single base substitution G A intron_variant MELA-AU 1 108317862 108317862 single base substitution G A intron_variant MELA-AU 1 108317993 108317993 single base substitution G A intron_variant MELA-AU 1 108318110 108318110 single base substitution G A intron_variant MELA-AU 1 108318154 108318154 single base substitution C T intron_variant MELA-AU 1 108318448 108318448 single base substitution C T intron_variant MELA-AU 1 108318636 108318636 single base substitution A T intron_variant MELA-AU 1 108318710 108318710 single base substitution T C intron_variant MELA-AU 1 108319260 108319260 single base substitution T A intron_variant MELA-AU 1 108319425 108319425 single base substitution G A intron_variant MELA-AU 1 108320137 108320137 single base substitution G A intron_variant MELA-AU 1 108320142 108320142 single base substitution C T intron_variant MELA-AU 1 108320269 108320269 single base substitution A G intron_variant MELA-AU 1 108320293 108320293 single base substitution C T intron_variant MELA-AU 1 108320293 108320293 single base substitution C T splice_region_variant MELA-AU 1 108320846 108320846 single base substitution G A intron_variant MELA-AU 1 108321115 108321115 single base substitution C T intron_variant MELA-AU 1 108321159 108321159 single base substitution C T intron_variant MELA-AU 1 108321300 108321300 single base substitution G A intron_variant MELA-AU 1 108321784 108321784 single base substitution G A intron_variant MELA-AU 1 108322041 108322041 single base substitution G A intron_variant MELA-AU 1 108322418 108322418 single base substitution C T intron_variant MELA-AU 1 108322953 108322953 single base substitution C T intron_variant MELA-AU 1 108323044 108323044 single base substitution C T intron_variant MELA-AU 1 108323228 108323228 single base substitution C T intron_variant MELA-AU 1 108323280 108323280 single base substitution G A intron_variant MELA-AU 1 108323408 108323408 single base substitution G A intron_variant MELA-AU 1 108324143 108324143 single base substitution T C intron_variant MELA-AU 1 108324326 108324326 single base substitution A T intron_variant MELA-AU 1 108324494 108324494 single base substitution G A intron_variant MELA-AU 1 108324711 108324711 single base substitution G A intron_variant MELA-AU 1 108325020 108325020 single base substitution G A intron_variant MELA-AU 1 108325021 108325021 single base substitution G A intron_variant MELA-AU 1 108325023 108325023 single base substitution G A intron_variant MELA-AU 1 108325515 108325515 single base substitution C T intron_variant MELA-AU 1 108325786 108325786 single base substitution G A intron_variant MELA-AU 1 108325810 108325810 single base substitution G A intron_variant MELA-AU 1 108325947 108325947 single base substitution G A intron_variant MELA-AU 1 108326028 108326028 single base substitution G A intron_variant MELA-AU 1 108326085 108326085 single base substitution G A intron_variant MELA-AU 1 108326269 108326270 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 1 108326440 108326440 single base substitution G C intron_variant MELA-AU 1 108326609 108326609 single base substitution G A intron_variant MELA-AU 1 108327471 108327471 single base substitution C G intron_variant MELA-AU 1 108327831 108327831 single base substitution A C intron_variant MELA-AU 1 108328016 108328016 single base substitution G A intron_variant MELA-AU 1 108328054 108328054 single base substitution G A intron_variant MELA-AU 1 108328245 108328245 single base substitution G A exon_variant MELA-AU 1 108328245 108328245 single base substitution G A intron_variant MELA-AU 1 108328461 108328461 single base substitution C T intron_variant MELA-AU 1 108328461 108328461 single base substitution C T upstream_gene_variant MELA-AU 1 108328678 108328678 single base substitution A G intron_variant MELA-AU 1 108328678 108328678 single base substitution A G upstream_gene_variant MELA-AU 1 108329040 108329040 single base substitution G A intron_variant MELA-AU 1 108329040 108329040 single base substitution G A upstream_gene_variant MELA-AU 1 108329648 108329648 single base substitution C T intron_variant MELA-AU 1 108329648 108329648 single base substitution C T upstream_gene_variant MELA-AU 1 108329808 108329808 single base substitution C T intron_variant MELA-AU 1 108329808 108329808 single base substitution C T upstream_gene_variant MELA-AU 1 108329943 108329943 single base substitution G A intron_variant MELA-AU 1 108329943 108329943 single base substitution G A upstream_gene_variant MELA-AU 1 108330097 108330097 single base substitution G A intron_variant MELA-AU 1 108330097 108330097 single base substitution G A upstream_gene_variant MELA-AU 1 108330106 108330106 single base substitution G A intron_variant MELA-AU 1 108330106 108330106 single base substitution G A upstream_gene_variant MELA-AU 1 108330485 108330485 single base substitution C T intron_variant MELA-AU 1 108330485 108330485 single base substitution C T upstream_gene_variant MELA-AU 1 108330556 108330556 single base substitution C T intron_variant MELA-AU 1 108330556 108330556 single base substitution C T upstream_gene_variant MELA-AU 1 108330614 108330614 single base substitution G A intron_variant MELA-AU 1 108330614 108330614 single base substitution G A upstream_gene_variant MELA-AU 1 108330729 108330729 single base substitution C T intron_variant MELA-AU 1 108330729 108330729 single base substitution C T upstream_gene_variant MELA-AU 1 108331190 108331190 single base substitution C T intron_variant MELA-AU 1 108331190 108331190 single base substitution C T upstream_gene_variant MELA-AU 1 108331859 108331859 single base substitution C T intron_variant MELA-AU 1 108331859 108331859 single base substitution C T upstream_gene_variant MELA-AU 1 108331861 108331861 single base substitution C T intron_variant MELA-AU 1 108331861 108331861 single base substitution C T upstream_gene_variant MELA-AU 1 108332245 108332245 single base substitution G A intron_variant MELA-AU 1 108332245 108332245 single base substitution G A upstream_gene_variant MELA-AU 1 108332732 108332732 single base substitution A G intron_variant MELA-AU 1 108332732 108332732 single base substitution A G upstream_gene_variant MELA-AU 1 108333095 108333095 single base substitution G A intron_variant MELA-AU 1 108333095 108333095 single base substitution G A upstream_gene_variant MELA-AU 1 108333126 108333126 single base substitution G A intron_variant MELA-AU 1 108333126 108333126 single base substitution G A upstream_gene_variant MELA-AU 1 108333148 108333148 single base substitution C T intron_variant MELA-AU 1 108333148 108333148 single base substitution C T upstream_gene_variant MELA-AU 1 108334188 108334188 single base substitution A G intron_variant MELA-AU 1 108334301 108334301 single base substitution G A intron_variant MELA-AU 1 108334367 108334367 single base substitution G A intron_variant MELA-AU 1 108334556 108334556 single base substitution G A intron_variant MELA-AU 1 108335182 108335182 single base substitution T C intron_variant MELA-AU 1 108335502 108335502 single base substitution G A intron_variant MELA-AU 1 108335574 108335574 single base substitution G A intron_variant MELA-AU 1 108335813 108335813 single base substitution G A intron_variant MELA-AU 1 108336627 108336627 single base substitution C T intron_variant MELA-AU 1 108336736 108336736 single base substitution G A intron_variant MELA-AU 1 108337864 108337864 single base substitution T C intron_variant MELA-AU 1 108338158 108338158 single base substitution G A intron_variant MELA-AU 1 108338236 108338236 single base substitution C T intron_variant MELA-AU 1 108338432 108338432 single base substitution G A intron_variant MELA-AU 1 108338985 108338985 single base substitution G A intron_variant MELA-AU 1 108339022 108339022 single base substitution G A intron_variant MELA-AU 1 108339262 108339262 single base substitution A T intron_variant MELA-AU 1 108339424 108339424 single base substitution A T intron_variant MELA-AU 1 108340522 108340522 single base substitution G A intron_variant MELA-AU 1 108340729 108340729 single base substitution A G intron_variant MELA-AU 1 108341561 108341561 single base substitution G A intron_variant MELA-AU 1 108341768 108341768 single base substitution C T intron_variant MELA-AU 1 108342389 108342389 single base substitution G A intron_variant MELA-AU 1 108342543 108342543 single base substitution C T intron_variant MELA-AU 1 108342613 108342613 single base substitution C T intron_variant MELA-AU 1 108342861 108342861 single base substitution A T intron_variant MELA-AU 1 108343216 108343216 single base substitution C T intron_variant MELA-AU 1 108343295 108343295 single base substitution C A intron_variant MELA-AU 1 108343381 108343381 single base substitution C T intron_variant MELA-AU 1 108343637 108343637 single base substitution C T intron_variant MELA-AU 1 108343772 108343772 single base substitution T C intron_variant MELA-AU 1 108343791 108343791 single base substitution G A intron_variant MELA-AU 1 108343870 108343870 single base substitution G A intron_variant MELA-AU 1 108344104 108344104 single base substitution G A intron_variant MELA-AU 1 108344618 108344618 single base substitution G A intron_variant MELA-AU 1 108344660 108344660 single base substitution G A intron_variant MELA-AU 1 108344669 108344669 single base substitution G A intron_variant MELA-AU 1 108344779 108344779 single base substitution C T intron_variant MELA-AU 1 108344942 108344942 single base substitution C T intron_variant MELA-AU 1 108345039 108345039 single base substitution C T intron_variant MELA-AU 1 108345070 108345070 single base substitution C T intron_variant MELA-AU 1 108345382 108345382 single base substitution T C intron_variant MELA-AU 1 108345593 108345593 single base substitution G A intron_variant MELA-AU 1 108346314 108346314 single base substitution C T intron_variant MELA-AU 1 108347058 108347058 single base substitution C T intron_variant MELA-AU 1 108347130 108347130 single base substitution A G intron_variant MELA-AU 1 108347133 108347133 single base substitution A C intron_variant MELA-AU 1 108347300 108347300 single base substitution T A intron_variant MELA-AU 1 108347532 108347532 single base substitution G A intron_variant MELA-AU 1 108347611 108347611 single base substitution A C intron_variant MELA-AU 1 108348035 108348035 single base substitution T G intron_variant MELA-AU 1 108348199 108348199 single base substitution G A intron_variant MELA-AU 1 108348308 108348308 single base substitution G A intron_variant MELA-AU 1 108348398 108348398 single base substitution T A intron_variant MELA-AU 1 108348423 108348423 single base substitution C T intron_variant MELA-AU 1 108348510 108348510 single base substitution C T intron_variant MELA-AU 1 108348563 108348563 single base substitution C T intron_variant MELA-AU 1 108348569 108348569 single base substitution G A intron_variant MELA-AU 1 108348673 108348673 single base substitution C T intron_variant MELA-AU 1 108348754 108348754 single base substitution G A intron_variant MELA-AU 1 108348793 108348793 single base substitution G A intron_variant MELA-AU 1 108348795 108348795 single base substitution T C intron_variant MELA-AU 1 108348934 108348934 single base substitution G A intron_variant MELA-AU 1 108349037 108349037 single base substitution G A intron_variant MELA-AU 1 108349046 108349046 single base substitution A T intron_variant MELA-AU 1 108349082 108349082 single base substitution G A intron_variant MELA-AU 1 108349122 108349122 single base substitution G A intron_variant MELA-AU 1 108349144 108349144 single base substitution G A intron_variant MELA-AU 1 108349186 108349186 single base substitution G A intron_variant MELA-AU 1 108349630 108349630 single base substitution G A intron_variant MELA-AU 1 108349800 108349800 single base substitution G A intron_variant MELA-AU 1 108349918 108349918 single base substitution T A intron_variant MELA-AU 1 108350072 108350072 single base substitution G A intron_variant MELA-AU 1 108350077 108350077 single base substitution G A intron_variant MELA-AU 1 108350124 108350124 single base substitution G C intron_variant MELA-AU 1 108350569 108350569 single base substitution G A intron_variant MELA-AU 1 108350783 108350783 single base substitution T C intron_variant MELA-AU 1 108350811 108350811 single base substitution G A intron_variant MELA-AU 1 108350939 108350939 deletion of <=200bp T - intron_variant MELA-AU 1 108351112 108351112 single base substitution G A intron_variant MELA-AU 1 108351141 108351141 single base substitution G A intron_variant MELA-AU 1 108351317 108351317 single base substitution G A intron_variant MELA-AU 1 108351459 108351459 single base substitution G A intron_variant MELA-AU 1 108351576 108351576 single base substitution A T intron_variant MELA-AU 1 108351617 108351617 single base substitution C T intron_variant MELA-AU 1 108351676 108351676 single base substitution G A intron_variant MELA-AU 1 108352157 108352157 single base substitution C T intron_variant MELA-AU 1 108352252 108352252 single base substitution A G intron_variant MELA-AU 1 108352357 108352357 single base substitution C T intron_variant MELA-AU 1 108352509 108352509 single base substitution G A intron_variant MELA-AU 1 108352760 108352760 single base substitution C T intron_variant MELA-AU 1 108352873 108352873 single base substitution C T intron_variant MELA-AU 1 108353108 108353108 single base substitution G A intron_variant MELA-AU 1 108353239 108353239 single base substitution G A intron_variant MELA-AU 1 108353259 108353259 single base substitution G A intron_variant MELA-AU 1 108353260 108353260 single base substitution G A intron_variant MELA-AU 1 108353555 108353555 single base substitution G A intron_variant MELA-AU 1 108353598 108353598 single base substitution G A intron_variant MELA-AU 1 108353835 108353835 single base substitution G A intron_variant MELA-AU 1 108354134 108354134 single base substitution G A intron_variant MELA-AU 1 108354509 108354509 single base substitution G A intron_variant MELA-AU 1 108354690 108354690 single base substitution T A intron_variant MELA-AU 1 108355459 108355459 single base substitution G A intron_variant MELA-AU 1 108355528 108355528 single base substitution G A intron_variant MELA-AU 1 108355884 108355884 single base substitution G A intron_variant MELA-AU 1 108356164 108356164 single base substitution G A intron_variant MELA-AU 1 108356431 108356431 single base substitution C T intron_variant MELA-AU 1 108356677 108356677 single base substitution G A intron_variant MELA-AU 1 108356829 108356829 single base substitution A T intron_variant MELA-AU 1 108356838 108356838 single base substitution G A intron_variant MELA-AU 1 108356915 108356915 single base substitution C T intron_variant MELA-AU 1 108357277 108357277 single base substitution G A intron_variant MELA-AU 1 108357683 108357683 single base substitution G A intron_variant MELA-AU 1 108358444 108358444 single base substitution A G intron_variant MELA-AU 1 108358581 108358581 single base substitution G A intron_variant MELA-AU 1 108358713 108358713 single base substitution C T intron_variant MELA-AU 1 108358869 108358869 single base substitution G A intron_variant MELA-AU 1 108358948 108358948 single base substitution A T intron_variant MELA-AU 1 108358962 108358982 deletion of <=200bp ACAAAGTGATTTTTAAGATTA - intron_variant MELA-AU 1 108358998 108358998 single base substitution G A intron_variant MELA-AU 1 108359437 108359437 single base substitution G A intron_variant MELA-AU 1 108359907 108359907 single base substitution G A intron_variant MELA-AU 1 108360105 108360105 single base substitution G A intron_variant MELA-AU 1 108360220 108360220 single base substitution G A intron_variant MELA-AU 1 108361018 108361018 single base substitution C T intron_variant MELA-AU 1 108361071 108361071 single base substitution G A intron_variant MELA-AU 1 108361115 108361115 single base substitution G A intron_variant MELA-AU 1 108361363 108361363 single base substitution C T intron_variant MELA-AU 1 108361457 108361457 single base substitution C T intron_variant MELA-AU 1 108361737 108361737 single base substitution G A intron_variant MELA-AU 1 108362285 108362285 single base substitution T C intron_variant MELA-AU 1 108362444 108362444 single base substitution G A intron_variant MELA-AU 1 108363049 108363049 single base substitution G A intron_variant MELA-AU 1 108363113 108363113 single base substitution G A intron_variant MELA-AU 1 108363117 108363117 single base substitution G A intron_variant MELA-AU 1 108363204 108363204 single base substitution C T intron_variant MELA-AU 1 108363207 108363207 single base substitution C T intron_variant MELA-AU 1 108363349 108363349 single base substitution C G intron_variant MELA-AU 1 108363444 108363444 single base substitution C T exon_variant MELA-AU 1 108363444 108363444 single base substitution C T intron_variant MELA-AU 1 108363663 108363663 single base substitution G A intron_variant MELA-AU 1 108363663 108363663 single base substitution G A upstream_gene_variant MELA-AU 1 108363830 108363830 single base substitution G A intron_variant MELA-AU 1 108363830 108363830 single base substitution G A upstream_gene_variant MELA-AU 1 108364038 108364038 single base substitution G A intron_variant MELA-AU 1 108364038 108364038 single base substitution G A upstream_gene_variant MELA-AU 1 108364187 108364187 single base substitution G A intron_variant MELA-AU 1 108364187 108364187 single base substitution G A upstream_gene_variant MELA-AU 1 108364284 108364284 single base substitution G A intron_variant MELA-AU 1 108364284 108364284 single base substitution G A upstream_gene_variant MELA-AU 1 108364359 108364359 single base substitution C T intron_variant MELA-AU 1 108364359 108364359 single base substitution C T upstream_gene_variant MELA-AU 1 108364382 108364382 single base substitution G A intron_variant MELA-AU 1 108364382 108364382 single base substitution G A upstream_gene_variant MELA-AU 1 108364574 108364574 single base substitution A T intron_variant MELA-AU 1 108364574 108364574 single base substitution A T upstream_gene_variant MELA-AU 1 108364612 108364612 single base substitution G A intron_variant MELA-AU 1 108364612 108364612 single base substitution G A upstream_gene_variant MELA-AU 1 108364881 108364881 single base substitution G A intron_variant MELA-AU 1 108364881 108364881 single base substitution G A upstream_gene_variant MELA-AU 1 108365101 108365101 single base substitution C T intron_variant MELA-AU 1 108365101 108365101 single base substitution C T upstream_gene_variant MELA-AU 1 108365262 108365262 single base substitution G A intron_variant MELA-AU 1 108365262 108365262 single base substitution G A upstream_gene_variant MELA-AU 1 108365315 108365315 single base substitution A G intron_variant MELA-AU 1 108365315 108365315 single base substitution A G upstream_gene_variant MELA-AU 1 108365331 108365331 single base substitution G A intron_variant MELA-AU 1 108365331 108365331 single base substitution G A upstream_gene_variant MELA-AU 1 108365398 108365398 single base substitution A C intron_variant MELA-AU 1 108365398 108365398 single base substitution A C upstream_gene_variant MELA-AU 1 108365796 108365796 single base substitution G A intron_variant MELA-AU 1 108365796 108365796 single base substitution G A upstream_gene_variant MELA-AU 1 108366069 108366069 single base substitution G A intron_variant MELA-AU 1 108366069 108366069 single base substitution G A upstream_gene_variant MELA-AU 1 108366102 108366102 single base substitution C T intron_variant MELA-AU 1 108366102 108366102 single base substitution C T upstream_gene_variant MELA-AU 1 108366108 108366108 single base substitution G A intron_variant MELA-AU 1 108366108 108366108 single base substitution G A upstream_gene_variant MELA-AU 1 108366289 108366289 single base substitution C T intron_variant MELA-AU 1 108366289 108366289 single base substitution C T upstream_gene_variant MELA-AU 1 108366328 108366328 single base substitution G A intron_variant MELA-AU 1 108366328 108366328 single base substitution G A upstream_gene_variant MELA-AU 1 108366522 108366522 single base substitution C T intron_variant MELA-AU 1 108366522 108366522 single base substitution C T upstream_gene_variant MELA-AU 1 108366536 108366536 single base substitution T G intron_variant MELA-AU 1 108366536 108366536 single base substitution T G upstream_gene_variant MELA-AU 1 108366592 108366592 single base substitution C T intron_variant MELA-AU 1 108366592 108366592 single base substitution C T upstream_gene_variant MELA-AU 1 108366821 108366821 single base substitution G A intron_variant MELA-AU 1 108366821 108366821 single base substitution G A upstream_gene_variant MELA-AU 1 108366866 108366866 single base substitution G A intron_variant MELA-AU 1 108366866 108366866 single base substitution G A upstream_gene_variant MELA-AU 1 108366920 108366920 single base substitution G A intron_variant MELA-AU 1 108366920 108366920 single base substitution G A upstream_gene_variant MELA-AU 1 108367119 108367119 single base substitution G A intron_variant MELA-AU 1 108367119 108367119 single base substitution G A upstream_gene_variant MELA-AU 1 108367712 108367712 single base substitution C T intron_variant MELA-AU 1 108367712 108367712 single base substitution C T upstream_gene_variant MELA-AU 1 108367780 108367780 single base substitution C T intron_variant MELA-AU 1 108367780 108367780 single base substitution C T upstream_gene_variant MELA-AU 1 108368027 108368027 single base substitution G A intron_variant MELA-AU 1 108368027 108368027 single base substitution G A upstream_gene_variant MELA-AU 1 108369151 108369151 single base substitution G A intron_variant MELA-AU 1 108369159 108369159 single base substitution C T intron_variant MELA-AU 1 108369290 108369290 single base substitution G A intron_variant MELA-AU 1 108369301 108369301 single base substitution G A intron_variant MELA-AU 1 108369363 108369363 single base substitution G A intron_variant MELA-AU 1 108369867 108369867 single base substitution G A intron_variant MELA-AU 1 108370142 108370142 single base substitution G A intron_variant MELA-AU 1 108370218 108370218 single base substitution C T intron_variant MELA-AU 1 108371157 108371157 single base substitution G A intron_variant MELA-AU 1 108371309 108371309 single base substitution G A intron_variant MELA-AU 1 108373247 108373247 single base substitution C T intron_variant MELA-AU 1 108373464 108373464 single base substitution G A intron_variant MELA-AU 1 108373583 108373583 single base substitution C T intron_variant MELA-AU 1 108373611 108373611 single base substitution A G intron_variant MELA-AU 1 108373945 108373945 single base substitution G A intron_variant MELA-AU 1 108373971 108373971 single base substitution C T intron_variant MELA-AU 1 108374462 108374462 single base substitution G A intron_variant MELA-AU 1 108374530 108374530 single base substitution G A intron_variant MELA-AU 1 108374623 108374623 single base substitution G A intron_variant MELA-AU 1 108374629 108374629 single base substitution G A intron_variant MELA-AU 1 108374895 108374895 single base substitution C T intron_variant MELA-AU 1 108375131 108375131 single base substitution G A intron_variant MELA-AU 1 108375886 108375886 single base substitution C A intron_variant MELA-AU 1 108375965 108375965 single base substitution T C intron_variant MELA-AU 1 108377879 108377879 single base substitution G A intron_variant MELA-AU 1 108377987 108377988 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108378061 108378061 single base substitution C T intron_variant MELA-AU 1 108378242 108378242 single base substitution A G intron_variant MELA-AU 1 108378371 108378371 single base substitution T A intron_variant MELA-AU 1 108378593 108378593 single base substitution A G intron_variant MELA-AU 1 108379032 108379032 single base substitution G A intron_variant MELA-AU 1 108379058 108379058 single base substitution G A intron_variant MELA-AU 1 108379079 108379079 single base substitution C T intron_variant MELA-AU 1 108379541 108379541 single base substitution G A intron_variant MELA-AU 1 108380407 108380407 single base substitution G A intron_variant MELA-AU 1 108380833 108380833 single base substitution C T intron_variant MELA-AU 1 108380865 108380865 single base substitution G A intron_variant MELA-AU 1 108381041 108381041 single base substitution G A intron_variant MELA-AU 1 108381182 108381182 single base substitution G A intron_variant MELA-AU 1 108381216 108381216 single base substitution C T intron_variant MELA-AU 1 108381239 108381240 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108381728 108381728 single base substitution G A intron_variant MELA-AU 1 108381938 108381938 single base substitution G A intron_variant MELA-AU 1 108383074 108383074 single base substitution C T intron_variant MELA-AU 1 108384444 108384444 single base substitution G A intron_variant MELA-AU 1 108384716 108384716 single base substitution A T intron_variant MELA-AU 1 108385274 108385274 single base substitution T A intron_variant MELA-AU 1 108385292 108385292 single base substitution G A intron_variant MELA-AU 1 108385503 108385503 single base substitution G A intron_variant MELA-AU 1 108385702 108385702 single base substitution C T intron_variant MELA-AU 1 108386665 108386665 single base substitution G A intron_variant MELA-AU 1 108386877 108386878 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108386878 108386878 single base substitution G A intron_variant MELA-AU 1 108386954 108386954 single base substitution G T intron_variant MELA-AU 1 108387275 108387275 single base substitution C A intron_variant MELA-AU 1 108387352 108387352 single base substitution C T intron_variant MELA-AU 1 108387412 108387412 single base substitution A T intron_variant MELA-AU 1 108387503 108387503 single base substitution C T intron_variant MELA-AU 1 108387713 108387713 single base substitution G A intron_variant MELA-AU 1 108387775 108387775 single base substitution C T intron_variant MELA-AU 1 108387962 108387962 single base substitution G A intron_variant MELA-AU 1 108387982 108387982 single base substitution C T intron_variant MELA-AU 1 108388148 108388148 single base substitution C G intron_variant MELA-AU 1 108388315 108388315 single base substitution G A intron_variant MELA-AU 1 108388413 108388413 single base substitution G A intron_variant MELA-AU 1 108388540 108388540 single base substitution G A intron_variant MELA-AU 1 108388559 108388559 single base substitution G A intron_variant MELA-AU 1 108388591 108388591 single base substitution G A intron_variant MELA-AU 1 108388645 108388645 single base substitution G A intron_variant MELA-AU 1 108388673 108388673 single base substitution A T intron_variant MELA-AU 1 108388675 108388675 single base substitution G A intron_variant MELA-AU 1 108388685 108388686 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108388778 108388778 single base substitution A C intron_variant MELA-AU 1 108389079 108389080 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 1 108389808 108389808 single base substitution G A intron_variant MELA-AU 1 108389906 108389906 single base substitution G A intron_variant MELA-AU 1 108389939 108389939 single base substitution G A intron_variant MELA-AU 1 108389957 108389957 single base substitution C T intron_variant MELA-AU 1 108390060 108390060 single base substitution G A intron_variant MELA-AU 1 108390093 108390093 single base substitution C T intron_variant MELA-AU 1 108390288 108390288 single base substitution G A intron_variant MELA-AU 1 108390403 108390403 single base substitution G A intron_variant MELA-AU 1 108390516 108390516 single base substitution G T intron_variant MELA-AU 1 108390610 108390610 single base substitution G A intron_variant MELA-AU 1 108390854 108390854 single base substitution G A intron_variant MELA-AU 1 108391156 108391156 single base substitution C T intron_variant MELA-AU 1 108391349 108391349 single base substitution A G intron_variant MELA-AU 1 108391504 108391504 single base substitution G A intron_variant MELA-AU 1 108391528 108391528 single base substitution C T intron_variant MELA-AU 1 108391661 108391661 single base substitution A T intron_variant MELA-AU 1 108391877 108391877 single base substitution A G intron_variant MELA-AU 1 108391929 108391929 single base substitution C T intron_variant MELA-AU 1 108391982 108391982 single base substitution G A intron_variant MELA-AU 1 108392515 108392515 single base substitution C T intron_variant MELA-AU 1 108392535 108392535 single base substitution G A intron_variant MELA-AU 1 108392562 108392562 single base substitution G A intron_variant MELA-AU 1 108392712 108392712 single base substitution G A intron_variant MELA-AU 1 108392745 108392745 single base substitution G A intron_variant MELA-AU 1 108393380 108393380 single base substitution C T intron_variant MELA-AU 1 108393869 108393869 single base substitution G A intron_variant MELA-AU 1 108394039 108394039 insertion of <=200bp - A intron_variant MELA-AU 1 108394324 108394324 single base substitution G A intron_variant MELA-AU 1 108394958 108394958 single base substitution G A intron_variant MELA-AU 1 108395172 108395172 single base substitution G C intron_variant MELA-AU 1 108395456 108395456 single base substitution G A intron_variant MELA-AU 1 108395764 108395764 single base substitution T C intron_variant MELA-AU 1 108396045 108396045 single base substitution A T intron_variant MELA-AU 1 108396129 108396129 single base substitution G A intron_variant MELA-AU 1 108396215 108396215 single base substitution C T intron_variant MELA-AU 1 108396556 108396556 single base substitution A G intron_variant MELA-AU 1 108397287 108397287 single base substitution C T intron_variant MELA-AU 1 108397775 108397775 single base substitution G A intron_variant MELA-AU 1 108398084 108398084 single base substitution G A intron_variant MELA-AU 1 108398137 108398137 single base substitution G A intron_variant MELA-AU 1 108398682 108398682 single base substitution C T intron_variant MELA-AU 1 108398823 108398823 single base substitution A T intron_variant MELA-AU 1 108398906 108398906 single base substitution C T intron_variant MELA-AU 1 108398996 108398996 single base substitution A C intron_variant MELA-AU 1 108399139 108399139 single base substitution C T intron_variant MELA-AU 1 108399280 108399280 single base substitution G A intron_variant MELA-AU 1 108399390 108399390 single base substitution G A intron_variant MELA-AU 1 108399819 108399819 single base substitution G A intron_variant MELA-AU 1 108400494 108400494 single base substitution G A intron_variant MELA-AU 1 108400520 108400520 single base substitution G A intron_variant MELA-AU 1 108400903 108400903 single base substitution G A intron_variant MELA-AU 1 108401162 108401163 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108401331 108401331 single base substitution G A intron_variant MELA-AU 1 108401932 108401932 single base substitution G A intron_variant MELA-AU 1 108402174 108402174 single base substitution A T intron_variant MELA-AU 1 108403294 108403294 single base substitution T C intron_variant MELA-AU 1 108403648 108403648 single base substitution G A intron_variant MELA-AU 1 108403868 108403868 single base substitution C T intron_variant MELA-AU 1 108403869 108403869 single base substitution A G intron_variant MELA-AU 1 108404004 108404004 single base substitution A C intron_variant MELA-AU 1 108404080 108404080 single base substitution G A intron_variant MELA-AU 1 108404243 108404243 single base substitution G A intron_variant MELA-AU 1 108404315 108404315 single base substitution C T intron_variant MELA-AU 1 108404608 108404608 single base substitution C T intron_variant MELA-AU 1 108404775 108404775 single base substitution A G intron_variant MELA-AU 1 108405607 108405607 single base substitution G A intron_variant MELA-AU 1 108405759 108405759 single base substitution C T intron_variant MELA-AU 1 108405856 108405856 single base substitution C T intron_variant MELA-AU 1 108406107 108406107 single base substitution C T intron_variant MELA-AU 1 108406171 108406171 single base substitution A G intron_variant MELA-AU 1 108406224 108406224 single base substitution G A intron_variant MELA-AU 1 108406458 108406458 single base substitution C T intron_variant MELA-AU 1 108406507 108406507 single base substitution C T intron_variant MELA-AU 1 108406540 108406540 single base substitution T A intron_variant MELA-AU 1 108407448 108407448 single base substitution C T intron_variant MELA-AU 1 108407529 108407529 single base substitution G A intron_variant MELA-AU 1 108407758 108407758 single base substitution G A intron_variant MELA-AU 1 108408076 108408076 single base substitution G A intron_variant MELA-AU 1 108408107 108408107 single base substitution G A intron_variant MELA-AU 1 108408173 108408173 single base substitution G A intron_variant MELA-AU 1 108408217 108408217 single base substitution G A intron_variant MELA-AU 1 108408404 108408404 single base substitution C T intron_variant MELA-AU 1 108408576 108408576 single base substitution C T intron_variant MELA-AU 1 108408593 108408593 single base substitution G A intron_variant MELA-AU 1 108408657 108408657 single base substitution G T intron_variant MELA-AU 1 108408657 108408658 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108408738 108408738 single base substitution G A intron_variant MELA-AU 1 108409058 108409058 single base substitution C T intron_variant MELA-AU 1 108409340 108409340 single base substitution G A intron_variant MELA-AU 1 108409432 108409432 single base substitution G A intron_variant MELA-AU 1 108409504 108409504 single base substitution G A intron_variant MELA-AU 1 108409683 108409683 single base substitution C T intron_variant MELA-AU 1 108410049 108410049 single base substitution G A intron_variant MELA-AU 1 108410160 108410160 single base substitution G A intron_variant MELA-AU 1 108410396 108410396 single base substitution G A intron_variant MELA-AU 1 108410417 108410417 single base substitution G A intron_variant MELA-AU 1 108410603 108410603 single base substitution G A intron_variant MELA-AU 1 108411183 108411183 single base substitution C T intron_variant MELA-AU 1 108411197 108411197 single base substitution G A intron_variant MELA-AU 1 108411294 108411294 single base substitution C T intron_variant MELA-AU 1 108411479 108411479 single base substitution C T intron_variant MELA-AU 1 108411737 108411737 single base substitution C T intron_variant MELA-AU 1 108412000 108412000 single base substitution C T intron_variant MELA-AU 1 108412004 108412004 single base substitution A T intron_variant MELA-AU 1 108412124 108412124 single base substitution C T intron_variant MELA-AU 1 108412527 108412527 single base substitution C T intron_variant MELA-AU 1 108412562 108412562 single base substitution C T intron_variant MELA-AU 1 108412577 108412577 single base substitution T C intron_variant MELA-AU 1 108412739 108412739 single base substitution C T intron_variant MELA-AU 1 108413365 108413365 single base substitution G A intron_variant MELA-AU 1 108413384 108413384 single base substitution A G intron_variant MELA-AU 1 108413494 108413494 single base substitution G A intron_variant MELA-AU 1 108413526 108413526 single base substitution G A intron_variant MELA-AU 1 108414117 108414117 single base substitution C T intron_variant MELA-AU 1 108414676 108414676 single base substitution C T intron_variant MELA-AU 1 108414717 108414717 single base substitution A G intron_variant MELA-AU 1 108415249 108415249 single base substitution G A intron_variant MELA-AU 1 108415316 108415316 single base substitution T C intron_variant MELA-AU 1 108415359 108415359 single base substitution A T intron_variant MELA-AU 1 108416015 108416015 single base substitution C T intron_variant MELA-AU 1 108416027 108416027 single base substitution C T intron_variant MELA-AU 1 108416290 108416290 single base substitution C T intron_variant MELA-AU 1 108416366 108416366 single base substitution C T intron_variant MELA-AU 1 108416444 108416444 single base substitution C T intron_variant MELA-AU 1 108416465 108416465 single base substitution G A intron_variant MELA-AU 1 108416489 108416489 single base substitution C T intron_variant MELA-AU 1 108416536 108416536 single base substitution A C intron_variant MELA-AU 1 108416964 108416964 single base substitution C T intron_variant MELA-AU 1 108416965 108416965 single base substitution C T intron_variant MELA-AU 1 108417006 108417006 single base substitution A G intron_variant MELA-AU 1 108417157 108417158 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108417300 108417300 single base substitution G A intron_variant MELA-AU 1 108417356 108417356 single base substitution T C intron_variant MELA-AU 1 108417532 108417532 single base substitution G A exon_variant MELA-AU 1 108417532 108417532 single base substitution G A synonymous_variant D104D 312C>T MELA-AU 1 108417532 108417532 single base substitution G A synonymous_variant D39D 117C>T MELA-AU 1 108417532 108417532 single base substitution G A synonymous_variant D98D 294C>T MELA-AU 1 108417537 108417537 single base substitution G A exon_variant MELA-AU 1 108417537 108417537 single base substitution G A missense_variant R103C 307C>T MELA-AU 1 108417537 108417537 single base substitution G A missense_variant R38C 112C>T MELA-AU 1 108417537 108417537 single base substitution G A missense_variant R97C 289C>T MELA-AU 1 108417609 108417609 single base substitution G A exon_variant MELA-AU 1 108417609 108417609 single base substitution G A missense_variant L14F 40C>T MELA-AU 1 108417609 108417609 single base substitution G A missense_variant L73F 217C>T MELA-AU 1 108417609 108417609 single base substitution G A missense_variant L79F 235C>T MELA-AU 1 108417748 108417748 single base substitution C T intron_variant MELA-AU 1 108417872 108417872 single base substitution G A intron_variant MELA-AU 1 108417983 108417983 single base substitution G A intron_variant MELA-AU 1 108418090 108418090 single base substitution G A intron_variant MELA-AU 1 108418229 108418229 single base substitution G A intron_variant MELA-AU 1 108418537 108418537 single base substitution G A intron_variant MELA-AU 1 108418634 108418634 single base substitution G A intron_variant MELA-AU 1 108418674 108418674 single base substitution G A intron_variant MELA-AU 1 108418861 108418861 single base substitution C T intron_variant MELA-AU 1 108418909 108418909 single base substitution C T intron_variant MELA-AU 1 108419041 108419041 single base substitution T C intron_variant MELA-AU 1 108419546 108419546 single base substitution C T intron_variant MELA-AU 1 108419734 108419734 single base substitution C T intron_variant MELA-AU 1 108419820 108419821 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 1 108420182 108420183 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108420385 108420385 single base substitution G A intron_variant MELA-AU 1 108420567 108420567 single base substitution G A intron_variant MELA-AU 1 108420757 108420758 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 108421472 108421472 single base substitution G A intron_variant MELA-AU 1 108421482 108421482 single base substitution C T intron_variant MELA-AU 1 108421939 108421939 single base substitution C T intron_variant MELA-AU 1 108422640 108422640 single base substitution A T intron_variant MELA-AU 1 108422821 108422821 single base substitution G A intron_variant MELA-AU 1 108422848 108422848 single base substitution G A intron_variant MELA-AU 1 108423126 108423126 single base substitution G A intron_variant MELA-AU 1 108423133 108423133 single base substitution G A intron_variant MELA-AU 1 108423345 108423345 single base substitution G A intron_variant MELA-AU 1 108423698 108423698 single base substitution C T intron_variant MELA-AU 1 108423803 108423803 single base substitution G A intron_variant MELA-AU 1 108424236 108424236 single base substitution G A intron_variant MELA-AU 1 108424351 108424351 single base substitution C T intron_variant MELA-AU 1 108424351 108424352 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108424499 108424499 single base substitution G A intron_variant MELA-AU 1 108424888 108424888 single base substitution A G intron_variant MELA-AU 1 108424906 108424906 single base substitution G A intron_variant MELA-AU 1 108425084 108425084 single base substitution G A intron_variant MELA-AU 1 108425142 108425142 single base substitution G A intron_variant MELA-AU 1 108425389 108425389 single base substitution G A intron_variant MELA-AU 1 108425842 108425842 single base substitution C T intron_variant MELA-AU 1 108426246 108426246 single base substitution G A intron_variant MELA-AU 1 108426672 108426672 single base substitution C T intron_variant MELA-AU 1 108426938 108426938 single base substitution A C intron_variant MELA-AU 1 108427053 108427053 single base substitution T C intron_variant MELA-AU 1 108427426 108427426 single base substitution A G intron_variant MELA-AU 1 108427667 108427667 single base substitution G A intron_variant MELA-AU 1 108427671 108427671 single base substitution G A intron_variant MELA-AU 1 108427688 108427688 single base substitution G A intron_variant MELA-AU 1 108427727 108427727 single base substitution G A intron_variant MELA-AU 1 108427764 108427764 single base substitution G A intron_variant MELA-AU 1 108427765 108427765 single base substitution A T intron_variant MELA-AU 1 108427811 108427811 single base substitution G A intron_variant MELA-AU 1 108427818 108427818 single base substitution C T intron_variant MELA-AU 1 108427848 108427848 single base substitution G A intron_variant MELA-AU 1 108428043 108428043 single base substitution C T intron_variant MELA-AU 1 108428318 108428318 single base substitution C T intron_variant MELA-AU 1 108428506 108428506 single base substitution C T intron_variant MELA-AU 1 108428591 108428591 single base substitution G A intron_variant MELA-AU 1 108428611 108428611 single base substitution G A intron_variant MELA-AU 1 108428648 108428648 single base substitution G A intron_variant MELA-AU 1 108428692 108428692 single base substitution G A intron_variant MELA-AU 1 108428922 108428922 single base substitution G A intron_variant MELA-AU 1 108429205 108429205 single base substitution C T intron_variant MELA-AU 1 108429382 108429382 single base substitution C T intron_variant MELA-AU 1 108429400 108429400 single base substitution C T intron_variant MELA-AU 1 108429776 108429776 single base substitution A G intron_variant MELA-AU 1 108429785 108429785 single base substitution C T intron_variant MELA-AU 1 108430315 108430315 single base substitution G A intron_variant MELA-AU 1 108431722 108431722 single base substitution C T intron_variant MELA-AU 1 108431996 108431996 single base substitution A T intron_variant MELA-AU 1 108432444 108432444 single base substitution G A intron_variant MELA-AU 1 108432727 108432727 single base substitution C T intron_variant MELA-AU 1 108433057 108433057 single base substitution A C intron_variant MELA-AU 1 108433337 108433337 single base substitution A C intron_variant MELA-AU 1 108434059 108434059 single base substitution G A intron_variant MELA-AU 1 108434096 108434096 single base substitution G A intron_variant MELA-AU 1 108434895 108434895 single base substitution G A intron_variant MELA-AU 1 108435091 108435091 single base substitution C T intron_variant MELA-AU 1 108435149 108435149 single base substitution C T intron_variant MELA-AU 1 108435321 108435321 single base substitution A G intron_variant MELA-AU 1 108435928 108435928 single base substitution G A intron_variant MELA-AU 1 108435929 108435929 single base substitution G A intron_variant MELA-AU 1 108436091 108436091 single base substitution G A intron_variant MELA-AU 1 108436095 108436095 single base substitution G A intron_variant MELA-AU 1 108436549 108436549 single base substitution G A intron_variant MELA-AU 1 108436584 108436584 single base substitution G A intron_variant MELA-AU 1 108436604 108436604 single base substitution G A intron_variant MELA-AU 1 108436623 108436623 single base substitution C T intron_variant MELA-AU 1 108437197 108437197 single base substitution C T intron_variant MELA-AU 1 108437202 108437203 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 1 108437269 108437269 single base substitution C T intron_variant MELA-AU 1 108437934 108437934 single base substitution C T intron_variant MELA-AU 1 108438192 108438192 single base substitution T A intron_variant MELA-AU 1 108438273 108438273 single base substitution G A intron_variant MELA-AU 1 108438686 108438686 single base substitution C T intron_variant MELA-AU 1 108439369 108439369 single base substitution A T intron_variant MELA-AU 1 108439561 108439561 single base substitution G A intron_variant MELA-AU 1 108439769 108439769 single base substitution G A intron_variant MELA-AU 1 108439962 108439962 single base substitution G A intron_variant MELA-AU 1 108440460 108440460 single base substitution T C intron_variant MELA-AU 1 108440527 108440527 single base substitution A G intron_variant MELA-AU 1 108442138 108442138 single base substitution G A intron_variant MELA-AU 1 108442226 108442226 single base substitution C T intron_variant MELA-AU 1 108442245 108442245 single base substitution A T intron_variant MELA-AU 1 108442604 108442604 single base substitution C T intron_variant MELA-AU 1 108442896 108442896 single base substitution A G intron_variant MELA-AU 1 108442930 108442930 single base substitution G A intron_variant MELA-AU 1 108443128 108443128 single base substitution C T intron_variant MELA-AU 1 108443354 108443354 single base substitution G A intron_variant MELA-AU 1 108443398 108443398 single base substitution G A intron_variant MELA-AU 1 108443748 108443748 single base substitution G A intron_variant MELA-AU 1 108444077 108444077 single base substitution C T intron_variant MELA-AU 1 108444252 108444252 single base substitution A G intron_variant MELA-AU 1 108444462 108444462 single base substitution C T intron_variant MELA-AU 1 108444572 108444572 single base substitution G A intron_variant MELA-AU 1 108444579 108444579 single base substitution C T intron_variant MELA-AU 1 108444696 108444696 single base substitution A T intron_variant MELA-AU 1 108444697 108444698 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 108444742 108444742 single base substitution C T intron_variant MELA-AU 1 108444965 108444965 single base substitution C T intron_variant MELA-AU 1 108445367 108445367 single base substitution G A intron_variant MELA-AU 1 108445383 108445383 single base substitution G A intron_variant MELA-AU 1 108445663 108445663 single base substitution G A intron_variant MELA-AU 1 108445869 108445870 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108446061 108446061 single base substitution G A intron_variant MELA-AU 1 108446639 108446639 single base substitution T C intron_variant MELA-AU 1 108447178 108447178 single base substitution C T intron_variant MELA-AU 1 108447271 108447271 single base substitution C T intron_variant MELA-AU 1 108447414 108447414 single base substitution G A intron_variant MELA-AU 1 108447678 108447678 single base substitution G A intron_variant MELA-AU 1 108447690 108447690 single base substitution G A intron_variant MELA-AU 1 108448291 108448291 single base substitution C T intron_variant MELA-AU 1 108448374 108448374 single base substitution C T intron_variant MELA-AU 1 108448919 108448919 single base substitution C T intron_variant MELA-AU 1 108449010 108449010 single base substitution G A intron_variant MELA-AU 1 108449015 108449015 single base substitution G C intron_variant MELA-AU 1 108449242 108449242 single base substitution C T intron_variant MELA-AU 1 108449256 108449256 single base substitution C T intron_variant MELA-AU 1 108449654 108449654 single base substitution T A intron_variant MELA-AU 1 108449795 108449795 single base substitution G A intron_variant MELA-AU 1 108449989 108449989 single base substitution C T intron_variant MELA-AU 1 108450590 108450590 single base substitution C T intron_variant MELA-AU 1 108451015 108451015 single base substitution C T intron_variant MELA-AU 1 108451649 108451649 single base substitution G A intron_variant MELA-AU 1 108451932 108451932 single base substitution C T intron_variant MELA-AU 1 108452025 108452025 single base substitution G A intron_variant MELA-AU 1 108452026 108452026 single base substitution G A intron_variant MELA-AU 1 108452070 108452070 single base substitution G A intron_variant MELA-AU 1 108452094 108452094 single base substitution C T intron_variant MELA-AU 1 108452095 108452096 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108452097 108452097 single base substitution G A intron_variant MELA-AU 1 108452110 108452110 single base substitution C T intron_variant MELA-AU 1 108452230 108452230 single base substitution G A intron_variant MELA-AU 1 108452238 108452238 single base substitution C T intron_variant MELA-AU 1 108452239 108452239 single base substitution G A intron_variant MELA-AU 1 108452440 108452440 single base substitution G A intron_variant MELA-AU 1 108452469 108452469 single base substitution T A intron_variant MELA-AU 1 108452483 108452483 single base substitution C T intron_variant MELA-AU 1 108452559 108452559 single base substitution G A intron_variant MELA-AU 1 108452611 108452611 single base substitution T C intron_variant MELA-AU 1 108453019 108453019 single base substitution G A intron_variant MELA-AU 1 108453795 108453795 single base substitution G A intron_variant MELA-AU 1 108454002 108454002 single base substitution G A intron_variant MELA-AU 1 108454020 108454020 single base substitution G A intron_variant MELA-AU 1 108454122 108454122 single base substitution T C intron_variant MELA-AU 1 108454210 108454210 single base substitution G A intron_variant MELA-AU 1 108454321 108454321 single base substitution G A intron_variant MELA-AU 1 108454411 108454411 single base substitution C T intron_variant MELA-AU 1 108454482 108454482 single base substitution C T intron_variant MELA-AU 1 108454622 108454622 single base substitution G A intron_variant MELA-AU 1 108454718 108454718 single base substitution G A intron_variant MELA-AU 1 108454846 108454846 single base substitution C T intron_variant MELA-AU 1 108454920 108454920 single base substitution G A intron_variant MELA-AU 1 108455084 108455084 single base substitution A C intron_variant MELA-AU 1 108455736 108455736 single base substitution C T intron_variant MELA-AU 1 108456113 108456113 single base substitution C T intron_variant MELA-AU 1 108456114 108456114 single base substitution C T intron_variant MELA-AU 1 108456262 108456262 single base substitution C G intron_variant MELA-AU 1 108456262 108456262 single base substitution C T intron_variant MELA-AU 1 108456336 108456336 single base substitution G A intron_variant MELA-AU 1 108456369 108456369 single base substitution G A intron_variant MELA-AU 1 108456552 108456552 single base substitution G A intron_variant MELA-AU 1 108456862 108456862 single base substitution C T intron_variant MELA-AU 1 108457273 108457273 single base substitution G A intron_variant MELA-AU 1 108457809 108457809 single base substitution C T intron_variant MELA-AU 1 108457892 108457892 single base substitution A T intron_variant MELA-AU 1 108458153 108458153 single base substitution G A intron_variant MELA-AU 1 108458446 108458446 single base substitution G A intron_variant MELA-AU 1 108458651 108458651 single base substitution G A intron_variant MELA-AU 1 108458748 108458748 single base substitution G A intron_variant MELA-AU 1 108459152 108459152 single base substitution G A intron_variant MELA-AU 1 108459204 108459204 single base substitution G A intron_variant MELA-AU 1 108459219 108459219 single base substitution G A intron_variant MELA-AU 1 108459331 108459331 single base substitution G A intron_variant MELA-AU 1 108459420 108459420 single base substitution G A intron_variant MELA-AU 1 108459438 108459438 single base substitution G A intron_variant MELA-AU 1 108459515 108459515 single base substitution G A intron_variant MELA-AU 1 108460008 108460009 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108460026 108460026 single base substitution G A intron_variant MELA-AU 1 108460089 108460089 single base substitution T C intron_variant MELA-AU 1 108460126 108460126 single base substitution G A intron_variant MELA-AU 1 108460582 108460582 single base substitution G A intron_variant MELA-AU 1 108460591 108460591 single base substitution G A intron_variant MELA-AU 1 108460797 108460797 single base substitution G A intron_variant MELA-AU 1 108460898 108460898 single base substitution C T intron_variant MELA-AU 1 108461250 108461250 single base substitution G A intron_variant MELA-AU 1 108461391 108461391 single base substitution G A intron_variant MELA-AU 1 108461435 108461435 single base substitution C T intron_variant MELA-AU 1 108461463 108461463 single base substitution G A intron_variant MELA-AU 1 108461611 108461611 single base substitution G A intron_variant MELA-AU 1 108461874 108461874 single base substitution C T intron_variant MELA-AU 1 108461994 108461994 single base substitution T A intron_variant MELA-AU 1 108462064 108462064 single base substitution A T intron_variant MELA-AU 1 108462193 108462193 single base substitution A T intron_variant MELA-AU 1 108462222 108462222 single base substitution G A intron_variant MELA-AU 1 108462236 108462236 single base substitution G A intron_variant MELA-AU 1 108462260 108462260 single base substitution C T intron_variant MELA-AU 1 108462427 108462427 single base substitution G A intron_variant MELA-AU 1 108462453 108462453 single base substitution T A intron_variant MELA-AU 1 108462689 108462689 single base substitution G A intron_variant MELA-AU 1 108463175 108463175 single base substitution C T intron_variant MELA-AU 1 108463244 108463244 single base substitution C T intron_variant MELA-AU 1 108463380 108463380 single base substitution C T intron_variant MELA-AU 1 108463841 108463841 single base substitution G A intron_variant MELA-AU 1 108464356 108464356 single base substitution C T intron_variant MELA-AU 1 108464882 108464882 single base substitution A C intron_variant MELA-AU 1 108464893 108464893 single base substitution G A intron_variant MELA-AU 1 108464896 108464896 single base substitution G A intron_variant MELA-AU 1 108464917 108464917 single base substitution G C intron_variant MELA-AU 1 108465087 108465087 single base substitution G A intron_variant MELA-AU 1 108465866 108465866 single base substitution A G intron_variant MELA-AU 1 108466279 108466279 single base substitution G A intron_variant MELA-AU 1 108466467 108466467 single base substitution G A intron_variant MELA-AU 1 108467116 108467117 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 1 108467120 108467120 single base substitution G A intron_variant MELA-AU 1 108467436 108467436 single base substitution G A intron_variant MELA-AU 1 108467714 108467714 single base substitution G A intron_variant MELA-AU 1 108467814 108467814 single base substitution G A intron_variant MELA-AU 1 108467961 108467961 single base substitution C T intron_variant MELA-AU 1 108468159 108468159 single base substitution G A intron_variant MELA-AU 1 108468458 108468458 single base substitution T C intron_variant MELA-AU 1 108468521 108468521 single base substitution G A intron_variant MELA-AU 1 108468534 108468534 single base substitution C T intron_variant MELA-AU 1 108468539 108468539 single base substitution A G intron_variant MELA-AU 1 108468668 108468668 single base substitution G A intron_variant MELA-AU 1 108468915 108468915 single base substitution C T intron_variant MELA-AU 1 108469744 108469744 single base substitution G A intron_variant MELA-AU 1 108470199 108470199 single base substitution G A intron_variant MELA-AU 1 108470660 108470660 single base substitution C T intron_variant MELA-AU 1 108470701 108470701 single base substitution C T intron_variant MELA-AU 1 108470926 108470926 single base substitution C T intron_variant MELA-AU 1 108470928 108470928 single base substitution C T intron_variant MELA-AU 1 108471392 108471392 single base substitution G A intron_variant MELA-AU 1 108471505 108471505 single base substitution C T intron_variant MELA-AU 1 108471656 108471656 single base substitution G A intron_variant MELA-AU 1 108471831 108471831 single base substitution A G intron_variant MELA-AU 1 108472016 108472016 single base substitution G A intron_variant MELA-AU 1 108472307 108472307 single base substitution G A intron_variant MELA-AU 1 108472318 108472318 single base substitution G A intron_variant MELA-AU 1 108472695 108472695 single base substitution G A intron_variant MELA-AU 1 108472952 108472952 deletion of <=200bp A - intron_variant MELA-AU 1 108472984 108472984 single base substitution G A intron_variant MELA-AU 1 108473207 108473207 single base substitution C T intron_variant MELA-AU 1 108473267 108473267 single base substitution A G intron_variant MELA-AU 1 108473452 108473452 single base substitution G A intron_variant MELA-AU 1 108473515 108473515 single base substitution C T intron_variant MELA-AU 1 108474239 108474239 single base substitution G A intron_variant MELA-AU 1 108474458 108474458 single base substitution G A intron_variant MELA-AU 1 108474822 108474822 single base substitution G A intron_variant MELA-AU 1 108475582 108475582 single base substitution G A intron_variant MELA-AU 1 108475877 108475877 single base substitution G A intron_variant MELA-AU 1 108476464 108476464 single base substitution C T intron_variant MELA-AU 1 108477021 108477021 single base substitution C T intron_variant MELA-AU 1 108477042 108477042 single base substitution G A intron_variant MELA-AU 1 108478065 108478065 single base substitution C T intron_variant MELA-AU 1 108478192 108478192 single base substitution G A intron_variant MELA-AU 1 108478482 108478482 single base substitution G A intron_variant MELA-AU 1 108478743 108478743 single base substitution G A intron_variant MELA-AU 1 108478775 108478775 single base substitution G A intron_variant MELA-AU 1 108478832 108478832 single base substitution G A intron_variant MELA-AU 1 108479852 108479852 single base substitution C A intron_variant MELA-AU 1 108479944 108479944 single base substitution C T intron_variant MELA-AU 1 108480139 108480139 single base substitution T C intron_variant MELA-AU 1 108480840 108480840 single base substitution G A intron_variant MELA-AU 1 108481009 108481009 single base substitution G A intron_variant MELA-AU 1 108481055 108481055 single base substitution G A intron_variant MELA-AU 1 108481071 108481071 single base substitution C T intron_variant MELA-AU 1 108481171 108481171 single base substitution C T intron_variant MELA-AU 1 108481305 108481305 single base substitution G A intron_variant MELA-AU 1 108481413 108481413 single base substitution G A intron_variant MELA-AU 1 108481821 108481821 single base substitution A T intron_variant MELA-AU 1 108482066 108482066 single base substitution C T intron_variant MELA-AU 1 108482556 108482556 single base substitution C A intron_variant MELA-AU 1 108483449 108483449 single base substitution G A intron_variant MELA-AU 1 108483824 108483824 single base substitution T A intron_variant MELA-AU 1 108484133 108484133 single base substitution C T intron_variant MELA-AU 1 108484133 108484134 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108484149 108484149 single base substitution C A intron_variant MELA-AU 1 108484404 108484404 single base substitution A T intron_variant MELA-AU 1 108484643 108484643 single base substitution C T intron_variant MELA-AU 1 108485470 108485470 single base substitution C T intron_variant MELA-AU 1 108485553 108485553 single base substitution G A intron_variant MELA-AU 1 108485703 108485703 single base substitution C T intron_variant MELA-AU 1 108486076 108486076 single base substitution G A intron_variant MELA-AU 1 108486092 108486092 single base substitution A T intron_variant MELA-AU 1 108486100 108486100 single base substitution C T intron_variant MELA-AU 1 108486337 108486337 single base substitution C T intron_variant MELA-AU 1 108486488 108486488 single base substitution C T intron_variant MELA-AU 1 108486574 108486574 single base substitution A G intron_variant MELA-AU 1 108486769 108486769 single base substitution G A intron_variant MELA-AU 1 108487098 108487098 single base substitution C T intron_variant MELA-AU 1 108487311 108487311 single base substitution C T intron_variant MELA-AU 1 108487419 108487419 single base substitution G A intron_variant MELA-AU 1 108488710 108488710 single base substitution G A intron_variant MELA-AU 1 108488767 108488767 single base substitution G A intron_variant MELA-AU 1 108488856 108488856 single base substitution G A intron_variant MELA-AU 1 108489353 108489353 single base substitution A C intron_variant MELA-AU 1 108489456 108489456 single base substitution G A intron_variant MELA-AU 1 108489998 108489998 single base substitution G A intron_variant MELA-AU 1 108490206 108490206 single base substitution C T intron_variant MELA-AU 1 108490543 108490543 single base substitution A G intron_variant MELA-AU 1 108490771 108490771 single base substitution C T intron_variant MELA-AU 1 108490892 108490892 single base substitution C T intron_variant MELA-AU 1 108491394 108491394 single base substitution G A intron_variant MELA-AU 1 108491681 108491681 single base substitution G A intron_variant MELA-AU 1 108491935 108491935 single base substitution T A intron_variant MELA-AU 1 108492154 108492154 single base substitution C T intron_variant MELA-AU 1 108492418 108492418 single base substitution G A intron_variant MELA-AU 1 108492634 108492634 single base substitution G A intron_variant MELA-AU 1 108492824 108492824 single base substitution C T intron_variant MELA-AU 1 108493091 108493091 single base substitution G C intron_variant MELA-AU 1 108493286 108493286 single base substitution T G intron_variant MELA-AU 1 108493956 108493956 single base substitution T C intron_variant MELA-AU 1 108494084 108494084 single base substitution A T intron_variant MELA-AU 1 108494118 108494118 single base substitution T C intron_variant MELA-AU 1 108495931 108495931 single base substitution G A intron_variant MELA-AU 1 108496648 108496648 single base substitution G A intron_variant MELA-AU 1 108496737 108496737 single base substitution G A intron_variant MELA-AU 1 108497032 108497032 single base substitution C T intron_variant MELA-AU 1 108497248 108497248 single base substitution C T intron_variant MELA-AU 1 108497354 108497354 single base substitution C T intron_variant MELA-AU 1 108497359 108497359 single base substitution G A intron_variant MELA-AU 1 108497584 108497584 single base substitution C T intron_variant MELA-AU 1 108497821 108497822 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 1 108498135 108498135 single base substitution G A intron_variant MELA-AU 1 108498676 108498676 single base substitution G A intron_variant MELA-AU 1 108499563 108499563 single base substitution G A intron_variant MELA-AU 1 108500191 108500191 single base substitution T C intron_variant MELA-AU 1 108500226 108500226 single base substitution T A intron_variant MELA-AU 1 108500280 108500280 single base substitution G A intron_variant MELA-AU 1 108500462 108500462 single base substitution A G intron_variant MELA-AU 1 108500515 108500515 single base substitution A T intron_variant MELA-AU 1 108500620 108500620 single base substitution C T intron_variant MELA-AU 1 108501030 108501030 single base substitution C T intron_variant MELA-AU 1 108501183 108501183 single base substitution C T intron_variant MELA-AU 1 108501252 108501252 single base substitution T A intron_variant MELA-AU 1 108501299 108501299 single base substitution T C intron_variant MELA-AU 1 108501682 108501682 single base substitution G C intron_variant MELA-AU 1 108502071 108502071 single base substitution C T intron_variant MELA-AU 1 108502260 108502260 single base substitution G A intron_variant MELA-AU 1 108502459 108502459 single base substitution T G intron_variant MELA-AU 1 108502512 108502512 single base substitution C T intron_variant MELA-AU 1 108502852 108502853 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 108502970 108502970 single base substitution C T intron_variant MELA-AU 1 108503104 108503104 single base substitution G A intron_variant MELA-AU 1 108503612 108503612 single base substitution G A intron_variant MELA-AU 1 108504738 108504738 single base substitution T A intron_variant MELA-AU 1 108505425 108505425 single base substitution G A intron_variant MELA-AU 1 108505591 108505591 single base substitution C T intron_variant MELA-AU 1 108505682 108505682 single base substitution G A intron_variant MELA-AU 1 108505793 108505793 single base substitution G A intron_variant MELA-AU 1 108505891 108505891 single base substitution G A intron_variant MELA-AU 1 108505918 108505918 single base substitution C T intron_variant MELA-AU 1 108506099 108506100 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 108506099 108506100 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 108506246 108506246 single base substitution C T intron_variant MELA-AU 1 108506246 108506246 single base substitution C T upstream_gene_variant MELA-AU 1 108506320 108506320 single base substitution C T intron_variant MELA-AU 1 108506320 108506320 single base substitution C T upstream_gene_variant MELA-AU 1 108506545 108506545 single base substitution G C intron_variant MELA-AU 1 108506545 108506545 single base substitution G C upstream_gene_variant MELA-AU 1 108507495 108507495 single base substitution C T 5_prime_UTR_variant MELA-AU 1 108507495 108507495 single base substitution C T upstream_gene_variant MELA-AU 1 108507964 108507964 single base substitution C T upstream_gene_variant MELA-AU 1 108508799 108508799 single base substitution T C upstream_gene_variant MELA-AU 1 108508900 108508900 single base substitution G A upstream_gene_variant MELA-AU 1 108509186 108509186 single base substitution C T upstream_gene_variant MELA-AU 1 108509209 108509209 single base substitution G A upstream_gene_variant MELA-AU 1 108509286 108509286 single base substitution C T upstream_gene_variant MELA-AU 1 108509355 108509355 single base substitution C T upstream_gene_variant MELA-AU 1 108509534 108509534 single base substitution G A upstream_gene_variant MELA-AU 1 108509552 108509552 single base substitution C T upstream_gene_variant MELA-AU 1 108509635 108509635 single base substitution C T upstream_gene_variant MELA-AU 1 108509643 108509643 single base substitution C T upstream_gene_variant MELA-AU 1 108509662 108509662 single base substitution C T upstream_gene_variant MELA-AU 1 108510147 108510147 single base substitution C T upstream_gene_variant MELA-AU 1 108510151 108510151 single base substitution G A upstream_gene_variant MELA-AU 1 108510398 108510398 single base substitution C T upstream_gene_variant MELA-AU 1 108510661 108510661 single base substitution C T upstream_gene_variant MELA-AU 1 108510704 108510704 single base substitution C T upstream_gene_variant MELA-AU 1 108510758 108510758 single base substitution C T upstream_gene_variant MELA-AU 1 108510857 108510857 single base substitution C T upstream_gene_variant MELA-AU 1 108510987 108510987 single base substitution G A upstream_gene_variant MELA-AU 1 108510992 108510992 single base substitution G A upstream_gene_variant MELA-AU 1 108511184 108511184 single base substitution G A upstream_gene_variant MELA-AU 1 108511265 108511265 single base substitution C T upstream_gene_variant MELA-AU 1 108511342 108511342 single base substitution C T upstream_gene_variant MELA-AU 1 108511745 108511745 insertion of <=200bp - A upstream_gene_variant MELA-AU 1 108512549 108512549 single base substitution C T upstream_gene_variant MELA-AU 1 108512597 108512597 single base substitution G A upstream_gene_variant MELA-AU 1 108512720 108512720 single base substitution G A upstream_gene_variant ORCA-IN 1 108111858 108111858 single base substitution C T downstream_gene_variant ORCA-IN 1 108134415 108134415 single base substitution G C downstream_gene_variant ORCA-IN 1 108134415 108134415 single base substitution G C intron_variant ORCA-IN 1 108144012 108144012 single base substitution C G downstream_gene_variant ORCA-IN 1 108144012 108144012 single base substitution C G intron_variant ORCA-IN 1 108153285 108153285 single base substitution A T intron_variant ORCA-IN 1 108167893 108167893 deletion of <=200bp C - intron_variant ORCA-IN 1 108186194 108186195 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant ORCA-IN 1 108229657 108229657 single base substitution G A intron_variant ORCA-IN 1 108229657 108229657 single base substitution G A upstream_gene_variant ORCA-IN 1 108237638 108237638 single base substitution G C intron_variant ORCA-IN 1 108244573 108244573 single base substitution C G intron_variant ORCA-IN 1 108278751 108278751 single base substitution C G intron_variant ORCA-IN 1 108289594 108289594 single base substitution C G intron_variant ORCA-IN 1 108313905 108313905 single base substitution C T intron_variant ORCA-IN 1 108399218 108399218 single base substitution C G intron_variant ORCA-IN 1 108431301 108431301 single base substitution G A intron_variant ORCA-IN 1 108431754 108431754 single base substitution A T intron_variant ORCA-IN 1 108443424 108443424 single base substitution G T intron_variant ORCA-IN 1 108444906 108444906 single base substitution G C intron_variant ORCA-IN 1 108449708 108449708 single base substitution T G intron_variant ORCA-IN 1 108457470 108457470 single base substitution C G intron_variant ORCA-IN 1 108497902 108497902 single base substitution G C intron_variant ORCA-IN 1 108502652 108502652 single base substitution G C intron_variant OV-AU 1 108110119 108110119 single base substitution G C downstream_gene_variant OV-AU 1 108123705 108123705 single base substitution G T intron_variant OV-AU 1 108128641 108128641 single base substitution C T intron_variant OV-AU 1 108131733 108131733 single base substitution A G intron_variant OV-AU 1 108134057 108134057 single base substitution A G downstream_gene_variant OV-AU 1 108134057 108134057 single base substitution A G intron_variant OV-AU 1 108136749 108136749 single base substitution T A downstream_gene_variant OV-AU 1 108136749 108136749 single base substitution T A intron_variant OV-AU 1 108145635 108145661 deletion of <=200bp AATCTATTTCTGTAAAAGTACTTGTCC - downstream_gene_variant OV-AU 1 108145635 108145661 deletion of <=200bp AATCTATTTCTGTAAAAGTACTTGTCC - splice_region_variant OV-AU 1 108147498 108147498 single base substitution C T downstream_gene_variant OV-AU 1 108147498 108147498 single base substitution C T intron_variant OV-AU 1 108148097 108148097 single base substitution C G downstream_gene_variant OV-AU 1 108148097 108148097 single base substitution C G intron_variant OV-AU 1 108150593 108150593 single base substitution T G downstream_gene_variant OV-AU 1 108150593 108150593 single base substitution T G intron_variant OV-AU 1 108157196 108157196 single base substitution T C downstream_gene_variant OV-AU 1 108157196 108157196 single base substitution T C intron_variant OV-AU 1 108158839 108158839 single base substitution G C downstream_gene_variant OV-AU 1 108158839 108158839 single base substitution G C intron_variant OV-AU 1 108159103 108159103 single base substitution A C downstream_gene_variant OV-AU 1 108159103 108159103 single base substitution A C intron_variant OV-AU 1 108168470 108168470 single base substitution G A intron_variant OV-AU 1 108176961 108176961 single base substitution T C intron_variant OV-AU 1 108181154 108181154 single base substitution C A intron_variant OV-AU 1 108183236 108183236 single base substitution T C intron_variant OV-AU 1 108183350 108183350 single base substitution G A intron_variant OV-AU 1 108184976 108184976 single base substitution A C intron_variant OV-AU 1 108189884 108189884 single base substitution T C intron_variant OV-AU 1 108190215 108190215 single base substitution A T intron_variant OV-AU 1 108190306 108190306 single base substitution A G intron_variant OV-AU 1 108190335 108190335 single base substitution T C intron_variant OV-AU 1 108194420 108194420 single base substitution A T intron_variant OV-AU 1 108194953 108194953 single base substitution T C intron_variant OV-AU 1 108194967 108194967 single base substitution T C intron_variant OV-AU 1 108202630 108202630 single base substitution C T intron_variant OV-AU 1 108207538 108207538 single base substitution G T downstream_gene_variant OV-AU 1 108207538 108207538 single base substitution G T intron_variant OV-AU 1 108212962 108212962 single base substitution A T intron_variant OV-AU 1 108216295 108216295 single base substitution T A intron_variant OV-AU 1 108216295 108216295 single base substitution T A upstream_gene_variant OV-AU 1 108217071 108217071 single base substitution C T intron_variant OV-AU 1 108217071 108217071 single base substitution C T upstream_gene_variant OV-AU 1 108219588 108219588 single base substitution T C intron_variant OV-AU 1 108219588 108219588 single base substitution T C upstream_gene_variant OV-AU 1 108225404 108225404 single base substitution T G intron_variant OV-AU 1 108225404 108225404 single base substitution T G upstream_gene_variant OV-AU 1 108226218 108226218 single base substitution G A intron_variant OV-AU 1 108226533 108226533 single base substitution A G intron_variant OV-AU 1 108231706 108231706 single base substitution C T intron_variant OV-AU 1 108231706 108231706 single base substitution C T upstream_gene_variant OV-AU 1 108233615 108233615 single base substitution T C intron_variant OV-AU 1 108233615 108233615 single base substitution T C upstream_gene_variant OV-AU 1 108236514 108236514 single base substitution C T intron_variant OV-AU 1 108237163 108237163 single base substitution G C intron_variant OV-AU 1 108237892 108237892 single base substitution G C intron_variant OV-AU 1 108238168 108238168 single base substitution G A intron_variant OV-AU 1 108243926 108243926 single base substitution T G intron_variant OV-AU 1 108249344 108249344 single base substitution G C intron_variant OV-AU 1 108249346 108249346 single base substitution T C intron_variant OV-AU 1 108250983 108250983 single base substitution C G intron_variant OV-AU 1 108251940 108251940 single base substitution A T intron_variant OV-AU 1 108266059 108266059 single base substitution T C intron_variant OV-AU 1 108270034 108270034 single base substitution T A intron_variant OV-AU 1 108272779 108272779 single base substitution T G intron_variant OV-AU 1 108284010 108284010 single base substitution C T intron_variant OV-AU 1 108286787 108286787 single base substitution T C intron_variant OV-AU 1 108290673 108290673 single base substitution G A intron_variant OV-AU 1 108294965 108294965 single base substitution A C intron_variant OV-AU 1 108294965 108294965 single base substitution A C upstream_gene_variant OV-AU 1 108295314 108295314 single base substitution A T intron_variant OV-AU 1 108295314 108295314 single base substitution A T upstream_gene_variant OV-AU 1 108296731 108296731 single base substitution A G intron_variant OV-AU 1 108296731 108296731 single base substitution A G upstream_gene_variant OV-AU 1 108302137 108302137 single base substitution G T intron_variant OV-AU 1 108303759 108303759 single base substitution C T intron_variant OV-AU 1 108306012 108306012 single base substitution A G downstream_gene_variant OV-AU 1 108306012 108306012 single base substitution A G intron_variant OV-AU 1 108308812 108308812 single base substitution C A downstream_gene_variant OV-AU 1 108308812 108308812 single base substitution C A intron_variant OV-AU 1 108312039 108312039 single base substitution T C downstream_gene_variant OV-AU 1 108312039 108312039 single base substitution T C intron_variant OV-AU 1 108316358 108316358 single base substitution G A intron_variant OV-AU 1 108316809 108316809 single base substitution C A intron_variant OV-AU 1 108318505 108318505 single base substitution C G intron_variant OV-AU 1 108318687 108318687 single base substitution A G intron_variant OV-AU 1 108322682 108322682 single base substitution C T intron_variant OV-AU 1 108323236 108323236 single base substitution C G intron_variant OV-AU 1 108328475 108328475 single base substitution A G intron_variant OV-AU 1 108328475 108328475 single base substitution A G upstream_gene_variant OV-AU 1 108328782 108328782 single base substitution A G intron_variant OV-AU 1 108328782 108328782 single base substitution A G upstream_gene_variant OV-AU 1 108330895 108330895 single base substitution C A intron_variant OV-AU 1 108330895 108330895 single base substitution C A upstream_gene_variant OV-AU 1 108331108 108331108 single base substitution T A intron_variant OV-AU 1 108331108 108331108 single base substitution T A upstream_gene_variant OV-AU 1 108331124 108331124 single base substitution A T intron_variant OV-AU 1 108331124 108331124 single base substitution A T upstream_gene_variant OV-AU 1 108339480 108339480 single base substitution C G intron_variant OV-AU 1 108340462 108340462 single base substitution G C intron_variant OV-AU 1 108347759 108347759 single base substitution A G intron_variant OV-AU 1 108355334 108355334 single base substitution C T intron_variant OV-AU 1 108364073 108364073 single base substitution C G intron_variant OV-AU 1 108364073 108364073 single base substitution C G upstream_gene_variant OV-AU 1 108364265 108364265 single base substitution G A intron_variant OV-AU 1 108364265 108364265 single base substitution G A upstream_gene_variant OV-AU 1 108366116 108366116 single base substitution T C intron_variant OV-AU 1 108366116 108366116 single base substitution T C upstream_gene_variant OV-AU 1 108370766 108370766 single base substitution T A intron_variant OV-AU 1 108371323 108371323 single base substitution G T intron_variant OV-AU 1 108371662 108371662 single base substitution T C intron_variant OV-AU 1 108375744 108375744 single base substitution C A intron_variant OV-AU 1 108379338 108379338 single base substitution A C intron_variant OV-AU 1 108379772 108379772 single base substitution A G intron_variant OV-AU 1 108380691 108380691 single base substitution A T intron_variant OV-AU 1 108380709 108380709 single base substitution C G intron_variant OV-AU 1 108381562 108381562 single base substitution A G intron_variant OV-AU 1 108382464 108382464 single base substitution C T intron_variant OV-AU 1 108383268 108383268 single base substitution G A intron_variant OV-AU 1 108384665 108384665 single base substitution T A intron_variant OV-AU 1 108386759 108386759 single base substitution G A intron_variant OV-AU 1 108387316 108387316 single base substitution C T intron_variant OV-AU 1 108388360 108388360 single base substitution C G intron_variant OV-AU 1 108388451 108388451 single base substitution G T intron_variant OV-AU 1 108392797 108392797 single base substitution G A intron_variant OV-AU 1 108395658 108395658 single base substitution A C intron_variant OV-AU 1 108398567 108398567 single base substitution G C intron_variant OV-AU 1 108402512 108402512 single base substitution T A intron_variant OV-AU 1 108405280 108405280 single base substitution T G intron_variant OV-AU 1 108408893 108408893 single base substitution C A intron_variant OV-AU 1 108409338 108409338 single base substitution G A intron_variant OV-AU 1 108411828 108411828 single base substitution A T intron_variant OV-AU 1 108412504 108412504 single base substitution G C intron_variant OV-AU 1 108413315 108413315 single base substitution C A intron_variant OV-AU 1 108414172 108414172 single base substitution T A intron_variant OV-AU 1 108414343 108414343 single base substitution G A intron_variant OV-AU 1 108414466 108414466 single base substitution G T intron_variant OV-AU 1 108416978 108416978 single base substitution C A intron_variant OV-AU 1 108423494 108423494 single base substitution T C intron_variant OV-AU 1 108425022 108425022 single base substitution A G intron_variant OV-AU 1 108427000 108427000 single base substitution T C intron_variant OV-AU 1 108429672 108429672 single base substitution G T intron_variant OV-AU 1 108433207 108433207 single base substitution A C intron_variant OV-AU 1 108440232 108440232 single base substitution G A intron_variant OV-AU 1 108444104 108444104 single base substitution G A intron_variant OV-AU 1 108445009 108445009 single base substitution G T intron_variant OV-AU 1 108445859 108445859 single base substitution C T intron_variant OV-AU 1 108446758 108446758 single base substitution C A intron_variant OV-AU 1 108448312 108448312 single base substitution T C intron_variant OV-AU 1 108449784 108449784 single base substitution A C intron_variant OV-AU 1 108450277 108450277 single base substitution G A intron_variant OV-AU 1 108450295 108450295 single base substitution T A intron_variant OV-AU 1 108450380 108450380 single base substitution C A intron_variant OV-AU 1 108451378 108451378 single base substitution G A intron_variant OV-AU 1 108455407 108455407 single base substitution A C intron_variant OV-AU 1 108455694 108455694 single base substitution T A intron_variant OV-AU 1 108456244 108456244 single base substitution G A intron_variant OV-AU 1 108456955 108456955 single base substitution G A intron_variant OV-AU 1 108461892 108461892 single base substitution C A intron_variant OV-AU 1 108463429 108463429 single base substitution C T intron_variant OV-AU 1 108464646 108464646 single base substitution T G intron_variant OV-AU 1 108470154 108470154 single base substitution C A intron_variant OV-AU 1 108470308 108470308 single base substitution T C intron_variant OV-AU 1 108470699 108470699 single base substitution C G intron_variant OV-AU 1 108471176 108471176 single base substitution C A intron_variant OV-AU 1 108476380 108476380 single base substitution G A intron_variant OV-AU 1 108476576 108476576 single base substitution A G intron_variant OV-AU 1 108478069 108478069 single base substitution C G intron_variant OV-AU 1 108482244 108482244 single base substitution C A intron_variant OV-AU 1 108482381 108482381 single base substitution G C intron_variant OV-AU 1 108485421 108485421 single base substitution T G intron_variant OV-AU 1 108487442 108487442 single base substitution G T intron_variant OV-AU 1 108487470 108487470 single base substitution C T intron_variant OV-AU 1 108488772 108488772 single base substitution G T intron_variant OV-AU 1 108488773 108488773 single base substitution G T intron_variant OV-AU 1 108490495 108490495 single base substitution G T intron_variant OV-AU 1 108495255 108495255 single base substitution C G intron_variant OV-AU 1 108500319 108500319 single base substitution G C intron_variant OV-AU 1 108500373 108500373 single base substitution T A intron_variant OV-AU 1 108500374 108500374 single base substitution C A intron_variant OV-AU 1 108510406 108510406 single base substitution A T upstream_gene_variant OV-US 1 108313293 108313293 single base substitution C A exon_variant OV-US 1 108313293 108313293 single base substitution C A stop_gained E140* 418G>T OV-US 1 108313293 108313293 single base substitution C A stop_gained E199* 595G>T OV-US 1 108313293 108313293 single base substitution C A stop_gained E205* 613G>T PACA-AU 1 108109671 108109671 single base substitution A T downstream_gene_variant PACA-AU 1 108111872 108111872 single base substitution C T downstream_gene_variant PACA-AU 1 108112862 108112862 single base substitution A T downstream_gene_variant PACA-AU 1 108115541 108115541 single base substitution C T 3_prime_UTR_variant PACA-AU 1 108115541 108115541 single base substitution C T downstream_gene_variant PACA-AU 1 108118579 108118579 single base substitution T C intron_variant PACA-AU 1 108118716 108118716 single base substitution G A intron_variant PACA-AU 1 108120405 108120405 single base substitution C A intron_variant PACA-AU 1 108122790 108122790 single base substitution G T intron_variant PACA-AU 1 108123548 108123548 single base substitution C T intron_variant PACA-AU 1 108123581 108123581 single base substitution C T intron_variant PACA-AU 1 108127891 108127891 single base substitution C T intron_variant PACA-AU 1 108128759 108128759 single base substitution T C intron_variant PACA-AU 1 108128983 108128983 single base substitution A G intron_variant PACA-AU 1 108129706 108129706 single base substitution C T intron_variant PACA-AU 1 108134057 108134057 single base substitution A G downstream_gene_variant PACA-AU 1 108134057 108134057 single base substitution A G intron_variant PACA-AU 1 108136672 108136672 single base substitution A G downstream_gene_variant PACA-AU 1 108136672 108136672 single base substitution A G intron_variant PACA-AU 1 108138182 108138182 single base substitution T G downstream_gene_variant PACA-AU 1 108138182 108138182 single base substitution T G intron_variant PACA-AU 1 108140409 108140409 single base substitution A T intron_variant PACA-AU 1 108142911 108142911 single base substitution G A downstream_gene_variant PACA-AU 1 108142911 108142911 single base substitution G A intron_variant PACA-AU 1 108146805 108146805 single base substitution C G intron_variant PACA-AU 1 108148598 108148598 single base substitution C T downstream_gene_variant PACA-AU 1 108148598 108148598 single base substitution C T intron_variant PACA-AU 1 108149475 108149475 single base substitution A G downstream_gene_variant PACA-AU 1 108149475 108149475 single base substitution A G intron_variant PACA-AU 1 108152170 108152170 insertion of <=200bp - AAT downstream_gene_variant PACA-AU 1 108152170 108152170 insertion of <=200bp - AAT intron_variant PACA-AU 1 108154940 108154940 deletion of <=200bp T - intron_variant PACA-AU 1 108155447 108155447 single base substitution C T downstream_gene_variant PACA-AU 1 108155447 108155447 single base substitution C T intron_variant PACA-AU 1 108155509 108155509 single base substitution C A downstream_gene_variant PACA-AU 1 108155509 108155509 single base substitution C A intron_variant PACA-AU 1 108155662 108155662 single base substitution G C downstream_gene_variant PACA-AU 1 108155662 108155662 single base substitution G C intron_variant PACA-AU 1 108159522 108159522 single base substitution G T downstream_gene_variant PACA-AU 1 108159522 108159522 single base substitution G T intron_variant PACA-AU 1 108162916 108162916 single base substitution G A intron_variant PACA-AU 1 108163090 108163090 single base substitution A G intron_variant PACA-AU 1 108163913 108163913 single base substitution G A intron_variant PACA-AU 1 108165463 108165463 single base substitution G T intron_variant PACA-AU 1 108170996 108170996 single base substitution T C intron_variant PACA-AU 1 108171095 108171095 single base substitution C G intron_variant PACA-AU 1 108172483 108172483 single base substitution T C intron_variant PACA-AU 1 108175930 108175930 single base substitution G T intron_variant PACA-AU 1 108176399 108176399 single base substitution G A intron_variant PACA-AU 1 108177798 108177798 single base substitution T C intron_variant PACA-AU 1 108178304 108178304 single base substitution G T intron_variant PACA-AU 1 108178484 108178484 single base substitution C T intron_variant PACA-AU 1 108178769 108178769 deletion of <=200bp C - intron_variant PACA-AU 1 108180794 108180794 single base substitution G A intron_variant PACA-AU 1 108181551 108181551 single base substitution A T intron_variant PACA-AU 1 108188794 108188794 single base substitution T G intron_variant PACA-AU 1 108191473 108191473 single base substitution G T intron_variant PACA-AU 1 108192725 108192725 single base substitution C T intron_variant PACA-AU 1 108193186 108193186 insertion of <=200bp - T intron_variant PACA-AU 1 108193810 108193810 single base substitution T C intron_variant PACA-AU 1 108193851 108193851 single base substitution G A intron_variant PACA-AU 1 108199869 108199869 single base substitution G A intron_variant PACA-AU 1 108200612 108200612 single base substitution G T intron_variant PACA-AU 1 108201959 108201959 single base substitution G A intron_variant PACA-AU 1 108203099 108203099 single base substitution C T intron_variant PACA-AU 1 108203491 108203491 single base substitution C T intron_variant PACA-AU 1 108205134 108205134 single base substitution T A intron_variant PACA-AU 1 108206721 108206721 single base substitution T G downstream_gene_variant PACA-AU 1 108206721 108206721 single base substitution T G intron_variant PACA-AU 1 108210220 108210221 deletion of <=200bp AC - downstream_gene_variant PACA-AU 1 108210220 108210221 deletion of <=200bp AC - intron_variant PACA-AU 1 108210869 108210869 single base substitution G T downstream_gene_variant PACA-AU 1 108210869 108210869 single base substitution G T intron_variant PACA-AU 1 108216179 108216179 single base substitution C G intron_variant PACA-AU 1 108217617 108217617 single base substitution G A intron_variant PACA-AU 1 108217617 108217617 single base substitution G A upstream_gene_variant PACA-AU 1 108220548 108220548 single base substitution G T exon_variant PACA-AU 1 108220548 108220548 single base substitution G T intron_variant PACA-AU 1 108220548 108220548 single base substitution G T upstream_gene_variant PACA-AU 1 108223533 108223534 deletion of <=200bp TG - intron_variant PACA-AU 1 108223533 108223534 deletion of <=200bp TG - upstream_gene_variant PACA-AU 1 108224338 108224338 single base substitution C T intron_variant PACA-AU 1 108224338 108224338 single base substitution C T upstream_gene_variant PACA-AU 1 108227824 108227824 single base substitution G T intron_variant PACA-AU 1 108228882 108228882 single base substitution G A intron_variant PACA-AU 1 108228882 108228882 single base substitution G A upstream_gene_variant PACA-AU 1 108229591 108229591 single base substitution A G intron_variant PACA-AU 1 108229591 108229591 single base substitution A G upstream_gene_variant PACA-AU 1 108229654 108229657 deletion of <=200bp GAAG - intron_variant PACA-AU 1 108229654 108229657 deletion of <=200bp GAAG - upstream_gene_variant PACA-AU 1 108230316 108230316 single base substitution C A intron_variant PACA-AU 1 108230316 108230316 single base substitution C A upstream_gene_variant PACA-AU 1 108231080 108231080 single base substitution T C 5_prime_UTR_variant PACA-AU 1 108231080 108231080 single base substitution T C exon_variant PACA-AU 1 108231080 108231080 single base substitution T C intron_variant PACA-AU 1 108231080 108231080 single base substitution T C upstream_gene_variant PACA-AU 1 108231707 108231707 single base substitution G A intron_variant PACA-AU 1 108231707 108231707 single base substitution G A upstream_gene_variant PACA-AU 1 108233379 108233379 single base substitution C A intron_variant PACA-AU 1 108233379 108233379 single base substitution C A upstream_gene_variant PACA-AU 1 108233901 108233901 single base substitution G T intron_variant PACA-AU 1 108233901 108233901 single base substitution G T upstream_gene_variant PACA-AU 1 108236726 108236726 single base substitution A C intron_variant PACA-AU 1 108237017 108237017 single base substitution G A intron_variant PACA-AU 1 108239726 108239726 single base substitution C T intron_variant PACA-AU 1 108242034 108242034 single base substitution G A intron_variant PACA-AU 1 108243844 108243844 single base substitution C A intron_variant PACA-AU 1 108246449 108246449 single base substitution A C intron_variant PACA-AU 1 108247717 108247717 single base substitution A C intron_variant PACA-AU 1 108251437 108251437 single base substitution C G intron_variant PACA-AU 1 108252596 108252610 deletion of <=200bp TATTTCAGTAATAAG - intron_variant PACA-AU 1 108253829 108253829 single base substitution T C intron_variant PACA-AU 1 108254603 108254603 single base substitution C T intron_variant PACA-AU 1 108257499 108257499 single base substitution C T intron_variant PACA-AU 1 108259284 108259284 single base substitution C T intron_variant PACA-AU 1 108259765 108259765 single base substitution T C intron_variant PACA-AU 1 108260164 108260164 single base substitution G A intron_variant PACA-AU 1 108260950 108260950 single base substitution C A intron_variant PACA-AU 1 108260997 108260997 single base substitution C T intron_variant PACA-AU 1 108262415 108262415 single base substitution A G intron_variant PACA-AU 1 108263007 108263007 insertion of <=200bp - AAAT intron_variant PACA-AU 1 108264134 108264134 single base substitution T C intron_variant PACA-AU 1 108264647 108264647 single base substitution T C intron_variant PACA-AU 1 108265458 108265458 insertion of <=200bp - CTCT intron_variant PACA-AU 1 108268614 108268614 single base substitution G A intron_variant PACA-AU 1 108270242 108270242 single base substitution T A intron_variant PACA-AU 1 108272790 108272790 single base substitution C A intron_variant PACA-AU 1 108273170 108273170 insertion of <=200bp - A intron_variant PACA-AU 1 108274127 108274127 single base substitution G A intron_variant PACA-AU 1 108275089 108275089 single base substitution G T intron_variant PACA-AU 1 108276294 108276294 single base substitution G A intron_variant PACA-AU 1 108276843 108276843 single base substitution G A intron_variant PACA-AU 1 108277636 108277636 single base substitution A G intron_variant PACA-AU 1 108278793 108278793 single base substitution A C intron_variant PACA-AU 1 108281573 108281573 single base substitution T C intron_variant PACA-AU 1 108282471 108282471 single base substitution G T intron_variant PACA-AU 1 108284336 108284336 single base substitution G A intron_variant PACA-AU 1 108284629 108284629 single base substitution A G intron_variant PACA-AU 1 108284866 108284866 single base substitution T C intron_variant PACA-AU 1 108285874 108285874 single base substitution A C intron_variant PACA-AU 1 108287029 108287029 single base substitution G A intron_variant PACA-AU 1 108292251 108292251 single base substitution G A intron_variant PACA-AU 1 108292251 108292251 single base substitution G A upstream_gene_variant PACA-AU 1 108292377 108292377 single base substitution T C intron_variant PACA-AU 1 108292377 108292377 single base substitution T C upstream_gene_variant PACA-AU 1 108292525 108292525 single base substitution G T intron_variant PACA-AU 1 108292525 108292525 single base substitution G T upstream_gene_variant PACA-AU 1 108292668 108292668 single base substitution A G intron_variant PACA-AU 1 108292668 108292668 single base substitution A G upstream_gene_variant PACA-AU 1 108295827 108295827 single base substitution C T intron_variant PACA-AU 1 108295827 108295827 single base substitution C T upstream_gene_variant PACA-AU 1 108296833 108296833 single base substitution A G intron_variant PACA-AU 1 108296833 108296833 single base substitution A G upstream_gene_variant PACA-AU 1 108297749 108297749 single base substitution A G intron_variant PACA-AU 1 108298936 108298936 single base substitution A T intron_variant PACA-AU 1 108300833 108300833 single base substitution G C intron_variant PACA-AU 1 108301366 108301366 single base substitution G T intron_variant PACA-AU 1 108303348 108303348 single base substitution A C intron_variant PACA-AU 1 108304756 108304756 deletion of <=200bp G - downstream_gene_variant PACA-AU 1 108304756 108304756 deletion of <=200bp G - intron_variant PACA-AU 1 108308179 108308179 single base substitution C G downstream_gene_variant PACA-AU 1 108308179 108308179 single base substitution C G intron_variant PACA-AU 1 108308867 108308867 single base substitution C T downstream_gene_variant PACA-AU 1 108308867 108308867 single base substitution C T intron_variant PACA-AU 1 108310742 108310742 single base substitution G A downstream_gene_variant PACA-AU 1 108310742 108310742 single base substitution G A intron_variant PACA-AU 1 108311868 108311868 single base substitution C T downstream_gene_variant PACA-AU 1 108311868 108311868 single base substitution C T intron_variant PACA-AU 1 108312099 108312099 single base substitution A G downstream_gene_variant PACA-AU 1 108312099 108312099 single base substitution A G intron_variant PACA-AU 1 108313611 108313611 single base substitution A G intron_variant PACA-AU 1 108314713 108314713 single base substitution A G intron_variant PACA-AU 1 108314988 108315001 deletion of <=200bp AAATTTAAAGGGAA - intron_variant PACA-AU 1 108316998 108316998 single base substitution C T intron_variant PACA-AU 1 108322630 108322630 single base substitution G C intron_variant PACA-AU 1 108325786 108325786 single base substitution G A intron_variant PACA-AU 1 108325932 108325932 single base substitution C G intron_variant PACA-AU 1 108327448 108327448 single base substitution G A intron_variant PACA-AU 1 108331235 108331235 single base substitution A T intron_variant PACA-AU 1 108331235 108331235 single base substitution A T upstream_gene_variant PACA-AU 1 108340258 108340258 single base substitution G A intron_variant PACA-AU 1 108346724 108346724 single base substitution A G intron_variant PACA-AU 1 108349888 108349888 single base substitution G A intron_variant PACA-AU 1 108349892 108349892 single base substitution G A intron_variant PACA-AU 1 108356220 108356220 single base substitution C A intron_variant PACA-AU 1 108356983 108356983 single base substitution T A intron_variant PACA-AU 1 108358660 108358660 single base substitution T C intron_variant PACA-AU 1 108361869 108361869 single base substitution G A intron_variant PACA-AU 1 108363270 108363270 single base substitution A G intron_variant PACA-AU 1 108363535 108363535 single base substitution A G intron_variant PACA-AU 1 108363535 108363535 single base substitution A G upstream_gene_variant PACA-AU 1 108365275 108365278 deletion of <=200bp AAAA - intron_variant PACA-AU 1 108365275 108365278 deletion of <=200bp AAAA - upstream_gene_variant PACA-AU 1 108365279 108365279 single base substitution A T intron_variant PACA-AU 1 108365279 108365279 single base substitution A T upstream_gene_variant PACA-AU 1 108365304 108365304 single base substitution A G intron_variant PACA-AU 1 108365304 108365304 single base substitution A G upstream_gene_variant PACA-AU 1 108366560 108366560 single base substitution T G intron_variant PACA-AU 1 108366560 108366560 single base substitution T G upstream_gene_variant PACA-AU 1 108369455 108369455 single base substitution C T intron_variant PACA-AU 1 108370208 108370208 single base substitution T C intron_variant PACA-AU 1 108372366 108372366 single base substitution C T intron_variant PACA-AU 1 108375680 108375680 single base substitution A T intron_variant PACA-AU 1 108376113 108376113 single base substitution G A intron_variant PACA-AU 1 108378076 108378076 single base substitution A G intron_variant PACA-AU 1 108378319 108378319 single base substitution C A intron_variant PACA-AU 1 108379232 108379232 single base substitution C A intron_variant PACA-AU 1 108382604 108382604 single base substitution C A intron_variant PACA-AU 1 108386937 108386937 single base substitution C T intron_variant PACA-AU 1 108389145 108389145 single base substitution C G intron_variant PACA-AU 1 108393349 108393349 single base substitution A T intron_variant PACA-AU 1 108393484 108393484 insertion of <=200bp - AT intron_variant PACA-AU 1 108398074 108398074 single base substitution T C intron_variant PACA-AU 1 108398180 108398180 single base substitution G C intron_variant PACA-AU 1 108402665 108402665 single base substitution T C intron_variant PACA-AU 1 108406736 108406736 single base substitution C T intron_variant PACA-AU 1 108407684 108407684 single base substitution G A intron_variant PACA-AU 1 108410347 108410347 single base substitution T A intron_variant PACA-AU 1 108412603 108412603 single base substitution C A intron_variant PACA-AU 1 108413138 108413138 single base substitution C T intron_variant PACA-AU 1 108413346 108413346 single base substitution C A intron_variant PACA-AU 1 108414939 108414939 single base substitution G C intron_variant PACA-AU 1 108415026 108415026 single base substitution G T intron_variant PACA-AU 1 108415089 108415089 single base substitution G A intron_variant PACA-AU 1 108423218 108423218 single base substitution G A intron_variant PACA-AU 1 108424048 108424048 single base substitution T A intron_variant PACA-AU 1 108433846 108433846 single base substitution C T intron_variant PACA-AU 1 108435776 108435776 single base substitution C T intron_variant PACA-AU 1 108439235 108439235 single base substitution C A intron_variant PACA-AU 1 108442886 108442886 single base substitution C T intron_variant PACA-AU 1 108443074 108443074 single base substitution G A intron_variant PACA-AU 1 108447115 108447115 single base substitution A C intron_variant PACA-AU 1 108448383 108448383 single base substitution T C intron_variant PACA-AU 1 108451281 108451309 deletion of <=200bp TTAAAAACCTTCATTACTTGTTTTCCATG - intron_variant PACA-AU 1 108455270 108455270 single base substitution T A intron_variant PACA-AU 1 108460420 108460420 single base substitution C A intron_variant PACA-AU 1 108460889 108460889 single base substitution C A intron_variant PACA-AU 1 108462623 108462623 deletion of <=200bp A - intron_variant PACA-AU 1 108463459 108463459 insertion of <=200bp - AT intron_variant PACA-AU 1 108467093 108467093 single base substitution C T intron_variant PACA-AU 1 108473098 108473098 single base substitution G A intron_variant PACA-AU 1 108479311 108479311 single base substitution T G intron_variant PACA-AU 1 108486950 108486950 single base substitution T C intron_variant PACA-AU 1 108487513 108487513 single base substitution C T intron_variant PACA-AU 1 108495206 108495206 single base substitution A G intron_variant PACA-AU 1 108495744 108495744 single base substitution T G intron_variant PACA-AU 1 108496204 108496204 single base substitution C T intron_variant PACA-AU 1 108496514 108496514 single base substitution G A intron_variant PACA-AU 1 108496763 108496763 single base substitution A G intron_variant PACA-AU 1 108496867 108496867 single base substitution T C intron_variant PACA-AU 1 108497392 108497392 single base substitution G C intron_variant PACA-AU 1 108502356 108502356 single base substitution T A intron_variant PACA-AU 1 108504008 108504008 single base substitution G A intron_variant PACA-AU 1 108508950 108508950 single base substitution C T upstream_gene_variant PACA-AU 1 108512623 108512623 single base substitution G T upstream_gene_variant PACA-CA 1 108108818 108108818 single base substitution G A downstream_gene_variant PACA-CA 1 108111975 108111975 single base substitution C A downstream_gene_variant PACA-CA 1 108112000 108112000 single base substitution A G downstream_gene_variant PACA-CA 1 108112644 108112644 single base substitution G A downstream_gene_variant PACA-CA 1 108113173 108113173 single base substitution G A downstream_gene_variant PACA-CA 1 108113551 108113551 single base substitution C T downstream_gene_variant PACA-CA 1 108114598 108114598 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 1 108114598 108114598 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 108114599 108114599 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 1 108114599 108114599 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 108115621 108115621 single base substitution C T 3_prime_UTR_variant PACA-CA 1 108115621 108115621 single base substitution C T downstream_gene_variant PACA-CA 1 108115621 108115621 single base substitution C T exon_variant PACA-CA 1 108117587 108117587 single base substitution G C intron_variant PACA-CA 1 108119284 108119284 single base substitution A G intron_variant PACA-CA 1 108119915 108119915 single base substitution G A intron_variant PACA-CA 1 108120173 108120173 single base substitution A G intron_variant PACA-CA 1 108120788 108120788 single base substitution G T intron_variant PACA-CA 1 108124722 108124722 single base substitution G A intron_variant PACA-CA 1 108125939 108125939 single base substitution A G intron_variant PACA-CA 1 108127795 108127795 single base substitution C T intron_variant PACA-CA 1 108127982 108127982 insertion of <=200bp - T intron_variant PACA-CA 1 108129560 108129560 single base substitution T C intron_variant PACA-CA 1 108132015 108132015 single base substitution G T intron_variant PACA-CA 1 108132312 108132312 single base substitution A T intron_variant PACA-CA 1 108134057 108134057 single base substitution A G downstream_gene_variant PACA-CA 1 108134057 108134057 single base substitution A G intron_variant PACA-CA 1 108134131 108134131 single base substitution G C downstream_gene_variant PACA-CA 1 108134131 108134131 single base substitution G C intron_variant PACA-CA 1 108139089 108139089 single base substitution A G intron_variant PACA-CA 1 108139421 108139421 single base substitution G A intron_variant PACA-CA 1 108142042 108142042 single base substitution A G downstream_gene_variant PACA-CA 1 108142042 108142042 single base substitution A G intron_variant PACA-CA 1 108142166 108142166 single base substitution C T downstream_gene_variant PACA-CA 1 108142166 108142166 single base substitution C T intron_variant PACA-CA 1 108142170 108142170 single base substitution T A downstream_gene_variant PACA-CA 1 108142170 108142170 single base substitution T A intron_variant PACA-CA 1 108142296 108142296 single base substitution A T downstream_gene_variant PACA-CA 1 108142296 108142296 single base substitution A T intron_variant PACA-CA 1 108147474 108147474 single base substitution C G downstream_gene_variant PACA-CA 1 108147474 108147474 single base substitution C G intron_variant PACA-CA 1 108147799 108147799 single base substitution T A downstream_gene_variant PACA-CA 1 108147799 108147799 single base substitution T A intron_variant PACA-CA 1 108149872 108149872 single base substitution C T downstream_gene_variant PACA-CA 1 108149872 108149872 single base substitution C T intron_variant PACA-CA 1 108151083 108151083 single base substitution T A downstream_gene_variant PACA-CA 1 108151083 108151083 single base substitution T A intron_variant PACA-CA 1 108151288 108151288 single base substitution G C downstream_gene_variant PACA-CA 1 108151288 108151288 single base substitution G C intron_variant PACA-CA 1 108151717 108151717 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 108151717 108151717 deletion of <=200bp A - intron_variant PACA-CA 1 108152562 108152562 single base substitution C A 3_prime_UTR_variant PACA-CA 1 108152562 108152562 single base substitution C A exon_variant PACA-CA 1 108152562 108152562 single base substitution C A missense_variant C109F 326G>T PACA-CA 1 108152562 108152562 single base substitution C A missense_variant C669F 2006G>T PACA-CA 1 108152562 108152562 single base substitution C A missense_variant C73F 218G>T PACA-CA 1 108152838 108152838 single base substitution C T intron_variant PACA-CA 1 108155178 108155178 single base substitution A G intron_variant PACA-CA 1 108159836 108159836 single base substitution C A downstream_gene_variant PACA-CA 1 108159836 108159836 single base substitution C A intron_variant PACA-CA 1 108160467 108160467 single base substitution T C intron_variant PACA-CA 1 108160790 108160790 single base substitution C A intron_variant PACA-CA 1 108161907 108161907 single base substitution C G intron_variant PACA-CA 1 108162170 108162170 single base substitution A G intron_variant PACA-CA 1 108162393 108162393 single base substitution G T intron_variant PACA-CA 1 108163169 108163169 single base substitution T C intron_variant PACA-CA 1 108163958 108163958 single base substitution C A intron_variant PACA-CA 1 108165612 108165612 single base substitution C A intron_variant PACA-CA 1 108179816 108179816 deletion of <=200bp A - intron_variant PACA-CA 1 108181206 108181206 single base substitution T C intron_variant PACA-CA 1 108181513 108181513 insertion of <=200bp - AT intron_variant PACA-CA 1 108183355 108183355 single base substitution G T intron_variant PACA-CA 1 108185282 108185282 single base substitution C T exon_variant PACA-CA 1 108185282 108185282 single base substitution C T missense_variant V152I 454G>A PACA-CA 1 108185282 108185282 single base substitution C T missense_variant V29I 85G>A PACA-CA 1 108185282 108185282 single base substitution C T missense_variant V625I 1873G>A PACA-CA 1 108185282 108185282 single base substitution C T missense_variant V65I 193G>A PACA-CA 1 108189028 108189028 single base substitution G T intron_variant PACA-CA 1 108190636 108190636 single base substitution G A intron_variant PACA-CA 1 108193185 108193185 insertion of <=200bp - T intron_variant PACA-CA 1 108194116 108194116 single base substitution A C intron_variant PACA-CA 1 108197178 108197178 deletion of <=200bp T - intron_variant PACA-CA 1 108199943 108199943 single base substitution T C intron_variant PACA-CA 1 108203128 108203128 single base substitution A G intron_variant PACA-CA 1 108203687 108203687 single base substitution G A intron_variant PACA-CA 1 108207580 108207580 single base substitution C G downstream_gene_variant PACA-CA 1 108207580 108207580 single base substitution C G intron_variant PACA-CA 1 108207885 108207885 single base substitution G T downstream_gene_variant PACA-CA 1 108207885 108207885 single base substitution G T intron_variant PACA-CA 1 108209419 108209419 single base substitution G A downstream_gene_variant PACA-CA 1 108209419 108209419 single base substitution G A intron_variant PACA-CA 1 108209898 108209898 single base substitution G C downstream_gene_variant PACA-CA 1 108209898 108209898 single base substitution G C intron_variant PACA-CA 1 108210219 108210219 insertion of <=200bp - AC downstream_gene_variant PACA-CA 1 108210219 108210219 insertion of <=200bp - AC intron_variant PACA-CA 1 108210922 108210922 single base substitution G A downstream_gene_variant PACA-CA 1 108210922 108210922 single base substitution G A intron_variant PACA-CA 1 108215033 108215033 single base substitution A T intron_variant PACA-CA 1 108215924 108215924 single base substitution T G intron_variant PACA-CA 1 108217410 108217410 single base substitution G T intron_variant PACA-CA 1 108217410 108217410 single base substitution G T upstream_gene_variant PACA-CA 1 108218949 108218949 single base substitution T G intron_variant PACA-CA 1 108218949 108218949 single base substitution T G upstream_gene_variant PACA-CA 1 108220610 108220610 single base substitution G A exon_variant PACA-CA 1 108220610 108220610 single base substitution G A intron_variant PACA-CA 1 108220610 108220610 single base substitution G A upstream_gene_variant PACA-CA 1 108220935 108220935 single base substitution A T intron_variant PACA-CA 1 108220935 108220935 single base substitution A T upstream_gene_variant PACA-CA 1 108224368 108224368 single base substitution C T intron_variant PACA-CA 1 108224368 108224368 single base substitution C T upstream_gene_variant PACA-CA 1 108227528 108227528 single base substitution A G intron_variant PACA-CA 1 108228245 108228245 single base substitution T A intron_variant PACA-CA 1 108229319 108229319 single base substitution G T intron_variant PACA-CA 1 108229319 108229319 single base substitution G T upstream_gene_variant PACA-CA 1 108232366 108232366 single base substitution T C intron_variant PACA-CA 1 108232366 108232366 single base substitution T C upstream_gene_variant PACA-CA 1 108232957 108232957 single base substitution C T intron_variant PACA-CA 1 108232957 108232957 single base substitution C T upstream_gene_variant PACA-CA 1 108233007 108233007 single base substitution G T intron_variant PACA-CA 1 108233007 108233007 single base substitution G T upstream_gene_variant PACA-CA 1 108233008 108233008 single base substitution A T intron_variant PACA-CA 1 108233008 108233008 single base substitution A T upstream_gene_variant PACA-CA 1 108234050 108234050 single base substitution G A intron_variant PACA-CA 1 108234050 108234050 single base substitution G A upstream_gene_variant PACA-CA 1 108235261 108235261 single base substitution C G intron_variant PACA-CA 1 108235261 108235261 single base substitution C G upstream_gene_variant PACA-CA 1 108238397 108238397 single base substitution G A intron_variant PACA-CA 1 108238689 108238689 single base substitution T G intron_variant PACA-CA 1 108240350 108240350 single base substitution C T intron_variant PACA-CA 1 108240867 108240867 single base substitution G A intron_variant PACA-CA 1 108240908 108240908 single base substitution G A intron_variant PACA-CA 1 108240984 108240984 single base substitution G A intron_variant PACA-CA 1 108242647 108242647 single base substitution C A intron_variant PACA-CA 1 108243095 108243095 single base substitution C T intron_variant PACA-CA 1 108243440 108243440 single base substitution T C intron_variant PACA-CA 1 108244463 108244463 single base substitution A T intron_variant PACA-CA 1 108245306 108245306 single base substitution T C intron_variant PACA-CA 1 108247576 108247576 single base substitution G T splice_region_variant PACA-CA 1 108247993 108247993 single base substitution A C intron_variant PACA-CA 1 108248968 108248968 single base substitution C T intron_variant PACA-CA 1 108249456 108249456 single base substitution G A intron_variant PACA-CA 1 108251420 108251420 single base substitution C G intron_variant PACA-CA 1 108251556 108251556 single base substitution G A intron_variant PACA-CA 1 108251941 108251941 insertion of <=200bp - A intron_variant PACA-CA 1 108252827 108252827 single base substitution C A intron_variant PACA-CA 1 108254035 108254035 deletion of <=200bp T - intron_variant PACA-CA 1 108254148 108254148 single base substitution A G intron_variant PACA-CA 1 108254265 108254265 single base substitution A G intron_variant PACA-CA 1 108255401 108255401 single base substitution G A intron_variant PACA-CA 1 108257157 108257157 single base substitution T C intron_variant PACA-CA 1 108257622 108257622 single base substitution A T intron_variant PACA-CA 1 108259437 108259437 single base substitution A T intron_variant PACA-CA 1 108259438 108259438 single base substitution C A intron_variant PACA-CA 1 108260089 108260089 single base substitution C A intron_variant PACA-CA 1 108260376 108260376 single base substitution C T intron_variant PACA-CA 1 108262361 108262361 single base substitution A T intron_variant PACA-CA 1 108263136 108263136 single base substitution A G intron_variant PACA-CA 1 108264751 108264751 single base substitution G T intron_variant PACA-CA 1 108266586 108266586 deletion of <=200bp T - intron_variant PACA-CA 1 108266878 108266878 single base substitution C G intron_variant PACA-CA 1 108268877 108268877 single base substitution A G intron_variant PACA-CA 1 108268900 108268900 insertion of <=200bp - A intron_variant PACA-CA 1 108270111 108270111 single base substitution C A intron_variant PACA-CA 1 108271005 108271005 single base substitution G A intron_variant PACA-CA 1 108271015 108271015 single base substitution T A intron_variant PACA-CA 1 108276678 108276678 single base substitution C T intron_variant PACA-CA 1 108277113 108277113 single base substitution T G intron_variant PACA-CA 1 108278077 108278077 single base substitution G A intron_variant PACA-CA 1 108284288 108284288 insertion of <=200bp - A intron_variant PACA-CA 1 108291574 108291574 single base substitution A G intron_variant PACA-CA 1 108292280 108292280 single base substitution T G intron_variant PACA-CA 1 108292280 108292280 single base substitution T G upstream_gene_variant PACA-CA 1 108292726 108292726 single base substitution G A intron_variant PACA-CA 1 108292726 108292726 single base substitution G A upstream_gene_variant PACA-CA 1 108294745 108294745 single base substitution C T intron_variant PACA-CA 1 108294745 108294745 single base substitution C T upstream_gene_variant PACA-CA 1 108295430 108295430 single base substitution G T intron_variant PACA-CA 1 108295430 108295430 single base substitution G T upstream_gene_variant PACA-CA 1 108296006 108296006 single base substitution C A intron_variant PACA-CA 1 108296006 108296006 single base substitution C A upstream_gene_variant PACA-CA 1 108297616 108297616 single base substitution T A intron_variant PACA-CA 1 108299618 108299618 single base substitution G A intron_variant PACA-CA 1 108300601 108300601 single base substitution C T intron_variant PACA-CA 1 108304145 108304145 single base substitution G C downstream_gene_variant PACA-CA 1 108304145 108304145 single base substitution G C intron_variant PACA-CA 1 108310513 108310513 single base substitution T C downstream_gene_variant PACA-CA 1 108310513 108310513 single base substitution T C intron_variant PACA-CA 1 108310600 108310600 single base substitution C A downstream_gene_variant PACA-CA 1 108310600 108310600 single base substitution C A intron_variant PACA-CA 1 108311403 108311403 single base substitution A G downstream_gene_variant PACA-CA 1 108311403 108311403 single base substitution A G intron_variant PACA-CA 1 108311404 108311404 single base substitution C T downstream_gene_variant PACA-CA 1 108311404 108311404 single base substitution C T intron_variant PACA-CA 1 108311787 108311787 single base substitution C T downstream_gene_variant PACA-CA 1 108311787 108311787 single base substitution C T intron_variant PACA-CA 1 108312905 108312905 deletion of <=200bp C - downstream_gene_variant PACA-CA 1 108312905 108312905 deletion of <=200bp C - intron_variant PACA-CA 1 108314059 108314059 single base substitution T C intron_variant PACA-CA 1 108314717 108314717 single base substitution A G intron_variant PACA-CA 1 108317094 108317094 single base substitution G A intron_variant PACA-CA 1 108317761 108317761 single base substitution C T intron_variant PACA-CA 1 108319944 108319944 insertion of <=200bp - A intron_variant PACA-CA 1 108323135 108323135 single base substitution A G intron_variant PACA-CA 1 108324773 108324773 single base substitution G A intron_variant PACA-CA 1 108325868 108325868 single base substitution A T intron_variant PACA-CA 1 108327134 108327134 single base substitution A G intron_variant PACA-CA 1 108328123 108328123 single base substitution G C exon_variant PACA-CA 1 108328123 108328123 single base substitution G C intron_variant PACA-CA 1 108328385 108328385 single base substitution G T intron_variant PACA-CA 1 108328385 108328385 single base substitution G T upstream_gene_variant PACA-CA 1 108328512 108328512 single base substitution C A intron_variant PACA-CA 1 108328512 108328512 single base substitution C A upstream_gene_variant PACA-CA 1 108329418 108329418 single base substitution G A intron_variant PACA-CA 1 108329418 108329418 single base substitution G A upstream_gene_variant PACA-CA 1 108330086 108330086 single base substitution G A intron_variant PACA-CA 1 108330086 108330086 single base substitution G A upstream_gene_variant PACA-CA 1 108330261 108330261 single base substitution G T intron_variant PACA-CA 1 108330261 108330261 single base substitution G T upstream_gene_variant PACA-CA 1 108330312 108330312 single base substitution G A intron_variant PACA-CA 1 108330312 108330312 single base substitution G A upstream_gene_variant PACA-CA 1 108330723 108330723 single base substitution G T intron_variant PACA-CA 1 108330723 108330723 single base substitution G T upstream_gene_variant PACA-CA 1 108332544 108332544 single base substitution C T intron_variant PACA-CA 1 108332544 108332544 single base substitution C T upstream_gene_variant PACA-CA 1 108333028 108333028 single base substitution G T intron_variant PACA-CA 1 108333028 108333028 single base substitution G T upstream_gene_variant PACA-CA 1 108334780 108334780 single base substitution C T intron_variant PACA-CA 1 108337144 108337144 single base substitution A C intron_variant PACA-CA 1 108339428 108339428 single base substitution T A intron_variant PACA-CA 1 108339748 108339748 single base substitution C T intron_variant PACA-CA 1 108340295 108340295 single base substitution G A intron_variant PACA-CA 1 108343207 108343207 single base substitution G T intron_variant PACA-CA 1 108343503 108343503 insertion of <=200bp - A intron_variant PACA-CA 1 108343638 108343638 single base substitution G A intron_variant PACA-CA 1 108343675 108343675 single base substitution G A intron_variant PACA-CA 1 108344295 108344295 single base substitution T A intron_variant PACA-CA 1 108349443 108349443 single base substitution C G intron_variant PACA-CA 1 108350817 108350817 single base substitution C T intron_variant PACA-CA 1 108351056 108351056 single base substitution T C intron_variant PACA-CA 1 108353428 108353428 single base substitution G A intron_variant PACA-CA 1 108354515 108354515 single base substitution A G intron_variant PACA-CA 1 108354614 108354614 single base substitution C T intron_variant PACA-CA 1 108356270 108356270 single base substitution T A intron_variant PACA-CA 1 108360187 108360187 single base substitution C T intron_variant PACA-CA 1 108364932 108364932 single base substitution A G intron_variant PACA-CA 1 108364932 108364932 single base substitution A G upstream_gene_variant PACA-CA 1 108366599 108366599 single base substitution T C intron_variant PACA-CA 1 108366599 108366599 single base substitution T C upstream_gene_variant PACA-CA 1 108366631 108366631 single base substitution G A intron_variant PACA-CA 1 108366631 108366631 single base substitution G A upstream_gene_variant PACA-CA 1 108368141 108368141 single base substitution C T intron_variant PACA-CA 1 108368141 108368141 single base substitution C T upstream_gene_variant PACA-CA 1 108368362 108368362 single base substitution T C intron_variant PACA-CA 1 108368362 108368362 single base substitution T C upstream_gene_variant PACA-CA 1 108368428 108368428 single base substitution A C intron_variant PACA-CA 1 108368428 108368428 single base substitution A C upstream_gene_variant PACA-CA 1 108369201 108369201 single base substitution T C intron_variant PACA-CA 1 108369494 108369494 single base substitution T A intron_variant PACA-CA 1 108370041 108370041 single base substitution C T intron_variant PACA-CA 1 108371185 108371185 single base substitution G A intron_variant PACA-CA 1 108373791 108373791 single base substitution A T intron_variant PACA-CA 1 108376146 108376146 single base substitution A G intron_variant PACA-CA 1 108377101 108377101 single base substitution A G intron_variant PACA-CA 1 108378861 108378861 single base substitution C T intron_variant PACA-CA 1 108379946 108379946 single base substitution C T intron_variant PACA-CA 1 108383363 108383363 single base substitution A C intron_variant PACA-CA 1 108383911 108383911 insertion of <=200bp - G intron_variant PACA-CA 1 108384444 108384444 insertion of <=200bp - A intron_variant PACA-CA 1 108385772 108385772 single base substitution G C intron_variant PACA-CA 1 108386022 108386022 single base substitution C T intron_variant PACA-CA 1 108386442 108386442 single base substitution C T intron_variant PACA-CA 1 108387495 108387495 single base substitution C T intron_variant PACA-CA 1 108389594 108389596 deletion of <=200bp TCT - intron_variant PACA-CA 1 108392019 108392019 single base substitution C G intron_variant PACA-CA 1 108392192 108392192 single base substitution A G intron_variant PACA-CA 1 108392213 108392213 single base substitution T A intron_variant PACA-CA 1 108393396 108393396 single base substitution G A intron_variant PACA-CA 1 108393457 108393457 single base substitution G T intron_variant PACA-CA 1 108393587 108393587 single base substitution A G intron_variant PACA-CA 1 108395206 108395206 single base substitution T G intron_variant PACA-CA 1 108397232 108397235 deletion of <=200bp TTGT - intron_variant PACA-CA 1 108400975 108400975 single base substitution T C intron_variant PACA-CA 1 108402933 108402933 single base substitution A G intron_variant PACA-CA 1 108405016 108405016 single base substitution G A intron_variant PACA-CA 1 108405565 108405565 insertion of <=200bp - A intron_variant PACA-CA 1 108406018 108406018 single base substitution C T intron_variant PACA-CA 1 108408416 108408416 single base substitution C G intron_variant PACA-CA 1 108408623 108408623 single base substitution C T intron_variant PACA-CA 1 108412912 108412912 single base substitution C A intron_variant PACA-CA 1 108415088 108415088 single base substitution C T intron_variant PACA-CA 1 108416485 108416485 single base substitution C T intron_variant PACA-CA 1 108418388 108418388 single base substitution G A intron_variant PACA-CA 1 108420551 108420551 single base substitution T C intron_variant PACA-CA 1 108421382 108421382 single base substitution A G intron_variant PACA-CA 1 108422154 108422154 single base substitution T C intron_variant PACA-CA 1 108423941 108423941 single base substitution C T intron_variant PACA-CA 1 108424076 108424076 single base substitution C A intron_variant PACA-CA 1 108426093 108426093 single base substitution C T intron_variant PACA-CA 1 108429344 108429344 single base substitution C A intron_variant PACA-CA 1 108435459 108435459 single base substitution G T intron_variant PACA-CA 1 108442508 108442508 single base substitution G A intron_variant PACA-CA 1 108443572 108443572 single base substitution G A intron_variant PACA-CA 1 108444417 108444417 single base substitution C A intron_variant PACA-CA 1 108448542 108448542 single base substitution G C intron_variant PACA-CA 1 108450295 108450295 single base substitution T A intron_variant PACA-CA 1 108450380 108450380 single base substitution C G intron_variant PACA-CA 1 108456413 108456413 deletion of <=200bp T - intron_variant PACA-CA 1 108456679 108456679 single base substitution A T intron_variant PACA-CA 1 108458618 108458618 single base substitution G A intron_variant PACA-CA 1 108459386 108459386 single base substitution T C intron_variant PACA-CA 1 108459406 108459406 single base substitution G A intron_variant PACA-CA 1 108459469 108459469 single base substitution A T intron_variant PACA-CA 1 108461221 108461221 single base substitution A T intron_variant PACA-CA 1 108462067 108462067 single base substitution T C intron_variant PACA-CA 1 108462089 108462089 single base substitution C G intron_variant PACA-CA 1 108463062 108463062 single base substitution C T intron_variant PACA-CA 1 108463300 108463300 single base substitution A T intron_variant PACA-CA 1 108464006 108464006 single base substitution G C intron_variant PACA-CA 1 108465747 108465747 single base substitution C G intron_variant PACA-CA 1 108465839 108465839 single base substitution G A intron_variant PACA-CA 1 108466808 108466808 single base substitution G C intron_variant PACA-CA 1 108467029 108467029 single base substitution C A intron_variant PACA-CA 1 108468095 108468095 single base substitution A G intron_variant PACA-CA 1 108468338 108468338 single base substitution A G intron_variant PACA-CA 1 108468404 108468404 single base substitution C T intron_variant PACA-CA 1 108468857 108468857 single base substitution C T intron_variant PACA-CA 1 108470460 108470460 deletion of <=200bp G - intron_variant PACA-CA 1 108470820 108470820 single base substitution C T intron_variant PACA-CA 1 108470872 108470872 single base substitution C T intron_variant PACA-CA 1 108470909 108470912 deletion of <=200bp AGAT - intron_variant PACA-CA 1 108472523 108472523 single base substitution T G intron_variant PACA-CA 1 108472957 108472957 single base substitution A T intron_variant PACA-CA 1 108473989 108473989 single base substitution C G intron_variant PACA-CA 1 108476704 108476704 single base substitution A G intron_variant PACA-CA 1 108481872 108481872 single base substitution A T intron_variant PACA-CA 1 108481896 108481896 single base substitution G T intron_variant PACA-CA 1 108483257 108483257 single base substitution A C intron_variant PACA-CA 1 108483444 108483444 single base substitution A G intron_variant PACA-CA 1 108484461 108484461 single base substitution G A intron_variant PACA-CA 1 108485976 108485976 single base substitution A G intron_variant PACA-CA 1 108494765 108494765 single base substitution G T intron_variant PACA-CA 1 108497441 108497441 single base substitution G A intron_variant PACA-CA 1 108497534 108497534 single base substitution C G intron_variant PACA-CA 1 108497553 108497553 single base substitution G A intron_variant PACA-CA 1 108502408 108502408 single base substitution G A intron_variant PACA-CA 1 108502650 108502650 single base substitution G C intron_variant PACA-CA 1 108503610 108503610 single base substitution A G intron_variant PACA-CA 1 108505119 108505119 single base substitution A T intron_variant PACA-CA 1 108506054 108506054 single base substitution C T exon_variant PACA-CA 1 108506054 108506054 single base substitution C T intron_variant PACA-CA 1 108508991 108508991 single base substitution C T upstream_gene_variant PACA-CA 1 108509833 108509833 single base substitution C T upstream_gene_variant PACA-CA 1 108510191 108510191 single base substitution G A upstream_gene_variant PACA-CA 1 108511780 108511780 single base substitution A T upstream_gene_variant PACA-CA 1 108512127 108512127 single base substitution C A upstream_gene_variant PACA-CA 1 108512352 108512352 single base substitution C T upstream_gene_variant PAEN-AU 1 108117953 108117953 single base substitution A T intron_variant PAEN-AU 1 108125892 108125892 single base substitution G C intron_variant PAEN-AU 1 108152184 108152184 single base substitution C A downstream_gene_variant PAEN-AU 1 108152184 108152184 single base substitution C A intron_variant PAEN-AU 1 108171939 108171939 single base substitution T A intron_variant PAEN-AU 1 108217258 108217258 single base substitution C T intron_variant PAEN-AU 1 108217258 108217258 single base substitution C T upstream_gene_variant PAEN-AU 1 108255862 108255862 single base substitution C T intron_variant PAEN-AU 1 108294220 108294220 single base substitution C A intron_variant PAEN-AU 1 108294220 108294220 single base substitution C A upstream_gene_variant PAEN-AU 1 108339485 108339485 single base substitution T A intron_variant PAEN-AU 1 108414083 108414083 single base substitution A T intron_variant PAEN-AU 1 108435948 108435948 single base substitution G C intron_variant PAEN-AU 1 108478065 108478065 single base substitution C T intron_variant PAEN-IT 1 108192166 108192166 single base substitution T A intron_variant PAEN-IT 1 108192167 108192167 single base substitution G A intron_variant PAEN-IT 1 108192170 108192170 single base substitution A T intron_variant PAEN-IT 1 108209930 108209930 single base substitution G T downstream_gene_variant PAEN-IT 1 108209930 108209930 single base substitution G T intron_variant PAEN-IT 1 108246815 108246815 single base substitution A T intron_variant PAEN-IT 1 108262342 108262342 single base substitution A G intron_variant PAEN-IT 1 108265571 108265571 single base substitution A T intron_variant PAEN-IT 1 108304274 108304274 single base substitution T C downstream_gene_variant PAEN-IT 1 108304274 108304274 single base substitution T C intron_variant PAEN-IT 1 108340423 108340423 single base substitution G T intron_variant PAEN-IT 1 108343455 108343455 single base substitution C A intron_variant PAEN-IT 1 108379492 108379492 single base substitution G A intron_variant PAEN-IT 1 108417636 108417636 single base substitution G A exon_variant PAEN-IT 1 108417636 108417636 single base substitution G A missense_variant L5F 13C>T PAEN-IT 1 108417636 108417636 single base substitution G A missense_variant L64F 190C>T PAEN-IT 1 108417636 108417636 single base substitution G A missense_variant L70F 208C>T PAEN-IT 1 108499171 108499171 single base substitution C A intron_variant PAEN-IT 1 108503887 108503887 single base substitution G T intron_variant PBCA-DE 1 108109928 108109928 single base substitution C T downstream_gene_variant PBCA-DE 1 108112506 108112506 single base substitution C A downstream_gene_variant PBCA-DE 1 108114097 108114097 single base substitution A T 3_prime_UTR_variant PBCA-DE 1 108114097 108114097 single base substitution A T downstream_gene_variant PBCA-DE 1 108116619 108116619 single base substitution C T intron_variant PBCA-DE 1 108118180 108118180 single base substitution A C intron_variant PBCA-DE 1 108121096 108121096 single base substitution C A intron_variant PBCA-DE 1 108123079 108123079 single base substitution C G intron_variant PBCA-DE 1 108132863 108132863 single base substitution C G intron_variant PBCA-DE 1 108134679 108134680 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 1 108134679 108134680 deletion of <=200bp GT - intron_variant PBCA-DE 1 108136095 108136095 single base substitution C T downstream_gene_variant PBCA-DE 1 108136095 108136095 single base substitution C T intron_variant PBCA-DE 1 108142254 108142254 single base substitution C G downstream_gene_variant PBCA-DE 1 108142254 108142254 single base substitution C G intron_variant PBCA-DE 1 108144050 108144050 single base substitution G C downstream_gene_variant PBCA-DE 1 108144050 108144050 single base substitution G C intron_variant PBCA-DE 1 108153893 108153893 single base substitution C A intron_variant PBCA-DE 1 108157102 108157102 insertion of <=200bp - A downstream_gene_variant PBCA-DE 1 108157102 108157102 insertion of <=200bp - A intron_variant PBCA-DE 1 108157792 108157792 single base substitution A C downstream_gene_variant PBCA-DE 1 108157792 108157792 single base substitution A C intron_variant PBCA-DE 1 108167479 108167479 single base substitution C T intron_variant PBCA-DE 1 108169653 108169653 single base substitution C A intron_variant PBCA-DE 1 108175613 108175613 single base substitution C A intron_variant PBCA-DE 1 108176019 108176019 single base substitution G A intron_variant PBCA-DE 1 108191176 108191176 deletion of <=200bp G - intron_variant PBCA-DE 1 108193153 108193153 single base substitution A T intron_variant PBCA-DE 1 108194047 108194047 single base substitution C T intron_variant PBCA-DE 1 108212840 108212840 single base substitution C A intron_variant PBCA-DE 1 108215245 108215245 single base substitution G A intron_variant PBCA-DE 1 108219392 108219392 single base substitution T C intron_variant PBCA-DE 1 108219392 108219392 single base substitution T C upstream_gene_variant PBCA-DE 1 108220543 108220543 insertion of <=200bp - GTTTT exon_variant PBCA-DE 1 108220543 108220543 insertion of <=200bp - GTTTT intron_variant PBCA-DE 1 108220543 108220543 insertion of <=200bp - GTTTT upstream_gene_variant PBCA-DE 1 108220808 108220808 single base substitution C A intron_variant PBCA-DE 1 108220808 108220808 single base substitution C A upstream_gene_variant PBCA-DE 1 108222530 108222530 single base substitution A G intron_variant PBCA-DE 1 108222530 108222530 single base substitution A G upstream_gene_variant PBCA-DE 1 108222794 108222794 single base substitution T C intron_variant PBCA-DE 1 108222794 108222794 single base substitution T C upstream_gene_variant PBCA-DE 1 108237291 108237291 single base substitution C A intron_variant PBCA-DE 1 108240843 108240843 single base substitution C T intron_variant PBCA-DE 1 108242361 108242361 single base substitution T C intron_variant PBCA-DE 1 108250246 108250246 single base substitution G T intron_variant PBCA-DE 1 108251822 108251822 single base substitution G A intron_variant PBCA-DE 1 108256305 108256305 single base substitution A C intron_variant PBCA-DE 1 108271246 108271246 single base substitution T C intron_variant PBCA-DE 1 108275351 108275351 deletion of <=200bp C - intron_variant PBCA-DE 1 108275356 108275356 insertion of <=200bp - T intron_variant PBCA-DE 1 108282946 108282946 single base substitution C G intron_variant PBCA-DE 1 108306041 108306041 single base substitution G A downstream_gene_variant PBCA-DE 1 108306041 108306041 single base substitution G A intron_variant PBCA-DE 1 108308965 108308965 single base substitution G T downstream_gene_variant PBCA-DE 1 108308965 108308965 single base substitution G T intron_variant PBCA-DE 1 108310968 108310968 single base substitution A G downstream_gene_variant PBCA-DE 1 108310968 108310968 single base substitution A G intron_variant PBCA-DE 1 108314050 108314050 deletion of <=200bp G - intron_variant PBCA-DE 1 108314913 108314913 single base substitution A C intron_variant PBCA-DE 1 108319489 108319489 single base substitution C A intron_variant PBCA-DE 1 108319945 108319945 insertion of <=200bp - A intron_variant PBCA-DE 1 108329088 108329088 single base substitution C T intron_variant PBCA-DE 1 108329088 108329088 single base substitution C T upstream_gene_variant PBCA-DE 1 108334588 108334588 single base substitution G A intron_variant PBCA-DE 1 108340883 108340883 single base substitution C A intron_variant PBCA-DE 1 108342378 108342378 single base substitution G A intron_variant PBCA-DE 1 108343146 108343146 insertion of <=200bp - T intron_variant PBCA-DE 1 108352871 108352871 single base substitution C T intron_variant PBCA-DE 1 108353084 108353089 deletion of <=200bp TATATC - intron_variant PBCA-DE 1 108355590 108355590 deletion of <=200bp A - intron_variant PBCA-DE 1 108356332 108356338 deletion of <=200bp TCTAACT - intron_variant PBCA-DE 1 108366630 108366630 single base substitution C T intron_variant PBCA-DE 1 108366630 108366630 single base substitution C T upstream_gene_variant PBCA-DE 1 108373818 108373818 single base substitution A G intron_variant PBCA-DE 1 108375039 108375039 single base substitution G A intron_variant PBCA-DE 1 108384913 108384913 single base substitution C T intron_variant PBCA-DE 1 108386147 108386148 deletion of <=200bp GT - intron_variant PBCA-DE 1 108386937 108386937 single base substitution C T intron_variant PBCA-DE 1 108388124 108388124 single base substitution C T intron_variant PBCA-DE 1 108394591 108394591 single base substitution C T intron_variant PBCA-DE 1 108395377 108395377 single base substitution T G intron_variant PBCA-DE 1 108395387 108395387 deletion of <=200bp T - intron_variant PBCA-DE 1 108399898 108399898 single base substitution G C intron_variant PBCA-DE 1 108413967 108413967 single base substitution C G intron_variant PBCA-DE 1 108415198 108415198 single base substitution C G intron_variant PBCA-DE 1 108428052 108428052 insertion of <=200bp - A intron_variant PBCA-DE 1 108432482 108432482 single base substitution A G intron_variant PBCA-DE 1 108437255 108437255 single base substitution A G intron_variant PBCA-DE 1 108439364 108439364 single base substitution A T intron_variant PBCA-DE 1 108440231 108440231 single base substitution C T intron_variant PBCA-DE 1 108445406 108445406 insertion of <=200bp - A intron_variant PBCA-DE 1 108445860 108445860 single base substitution C T intron_variant PBCA-DE 1 108448484 108448484 single base substitution T A intron_variant PBCA-DE 1 108449976 108449976 single base substitution A T intron_variant PBCA-DE 1 108461944 108461944 single base substitution A G intron_variant PBCA-DE 1 108463875 108463875 single base substitution G A intron_variant PBCA-DE 1 108478160 108478160 single base substitution A G intron_variant PBCA-DE 1 108483374 108483374 single base substitution C A intron_variant PBCA-DE 1 108485079 108485079 single base substitution C G intron_variant PBCA-DE 1 108488439 108488439 single base substitution C T intron_variant PBCA-DE 1 108491935 108491935 single base substitution T A intron_variant PBCA-DE 1 108495579 108495579 single base substitution G A intron_variant PRAD-CA 1 108113623 108113623 single base substitution C T downstream_gene_variant PRAD-CA 1 108117587 108117587 single base substitution G C intron_variant PRAD-CA 1 108127684 108127684 single base substitution G A intron_variant PRAD-CA 1 108128546 108128546 single base substitution A G intron_variant PRAD-CA 1 108154765 108154765 single base substitution T C intron_variant PRAD-CA 1 108158804 108158804 single base substitution G A downstream_gene_variant PRAD-CA 1 108158804 108158804 single base substitution G A intron_variant PRAD-CA 1 108162410 108162410 single base substitution T G intron_variant PRAD-CA 1 108167893 108167893 single base substitution C T intron_variant PRAD-CA 1 108180143 108180143 single base substitution G T intron_variant PRAD-CA 1 108195228 108195228 single base substitution T A intron_variant PRAD-CA 1 108206355 108206355 single base substitution A G intron_variant PRAD-CA 1 108206404 108206404 single base substitution A G intron_variant PRAD-CA 1 108216735 108216735 single base substitution A G intron_variant PRAD-CA 1 108216735 108216735 single base substitution A G upstream_gene_variant PRAD-CA 1 108258519 108258519 single base substitution T A intron_variant PRAD-CA 1 108277718 108277718 single base substitution C T intron_variant PRAD-CA 1 108299618 108299618 single base substitution G A intron_variant PRAD-CA 1 108316773 108316773 single base substitution C A intron_variant PRAD-CA 1 108376514 108376514 single base substitution C G intron_variant PRAD-CA 1 108379306 108379306 single base substitution C T intron_variant PRAD-CA 1 108405052 108405052 single base substitution A G intron_variant PRAD-CA 1 108408358 108408358 single base substitution G T intron_variant PRAD-CA 1 108413953 108413953 single base substitution C G intron_variant PRAD-CA 1 108417364 108417364 single base substitution T G intron_variant PRAD-CA 1 108421577 108421577 single base substitution T C intron_variant PRAD-CA 1 108427053 108427053 single base substitution T C intron_variant PRAD-CA 1 108449205 108449205 single base substitution G A intron_variant PRAD-CA 1 108462575 108462575 single base substitution G A intron_variant PRAD-CA 1 108465745 108465745 single base substitution C A intron_variant PRAD-CA 1 108497395 108497395 single base substitution G T intron_variant PRAD-CA 1 108512606 108512606 single base substitution A G upstream_gene_variant PRAD-UK 1 108109798 108109798 single base substitution C T downstream_gene_variant PRAD-UK 1 108111458 108111458 single base substitution C T downstream_gene_variant PRAD-UK 1 108114309 108114309 insertion of <=200bp - T 3_prime_UTR_variant PRAD-UK 1 108114309 108114309 insertion of <=200bp - T downstream_gene_variant PRAD-UK 1 108130344 108130344 single base substitution C T intron_variant PRAD-UK 1 108134875 108134877 deletion of <=200bp TTG - downstream_gene_variant PRAD-UK 1 108134875 108134877 deletion of <=200bp TTG - intron_variant PRAD-UK 1 108147795 108147795 insertion of <=200bp - A downstream_gene_variant PRAD-UK 1 108147795 108147795 insertion of <=200bp - A intron_variant PRAD-UK 1 108153952 108153952 single base substitution A G intron_variant PRAD-UK 1 108171056 108171078 deletion of <=200bp CACCTGGTTGCCCCTGGCCAAGT - intron_variant PRAD-UK 1 108207417 108207417 single base substitution A T downstream_gene_variant PRAD-UK 1 108207417 108207417 single base substitution A T intron_variant PRAD-UK 1 108217320 108217320 single base substitution C A intron_variant PRAD-UK 1 108217320 108217320 single base substitution C A upstream_gene_variant PRAD-UK 1 108219423 108219423 single base substitution G T intron_variant PRAD-UK 1 108219423 108219423 single base substitution G T upstream_gene_variant PRAD-UK 1 108223519 108223519 single base substitution C T intron_variant PRAD-UK 1 108223519 108223519 single base substitution C T upstream_gene_variant PRAD-UK 1 108235991 108235991 single base substitution T G intron_variant PRAD-UK 1 108235991 108235991 single base substitution T G upstream_gene_variant PRAD-UK 1 108242361 108242361 insertion of <=200bp - C intron_variant PRAD-UK 1 108261457 108261457 single base substitution C T intron_variant PRAD-UK 1 108272974 108272974 single base substitution G A intron_variant PRAD-UK 1 108283064 108283064 single base substitution T A intron_variant PRAD-UK 1 108284177 108284177 single base substitution A G intron_variant PRAD-UK 1 108297120 108297120 single base substitution C T intron_variant PRAD-UK 1 108297120 108297120 single base substitution C T upstream_gene_variant PRAD-UK 1 108297121 108297121 single base substitution T C intron_variant PRAD-UK 1 108297121 108297121 single base substitution T C upstream_gene_variant PRAD-UK 1 108298308 108298308 single base substitution T C intron_variant PRAD-UK 1 108309974 108309974 single base substitution G T downstream_gene_variant PRAD-UK 1 108309974 108309974 single base substitution G T intron_variant PRAD-UK 1 108321483 108321483 single base substitution C T intron_variant PRAD-UK 1 108325332 108325332 single base substitution T A intron_variant PRAD-UK 1 108327170 108327170 single base substitution C A intron_variant PRAD-UK 1 108334509 108334509 insertion of <=200bp - T intron_variant PRAD-UK 1 108334510 108334510 insertion of <=200bp - T intron_variant PRAD-UK 1 108342284 108342284 single base substitution T A intron_variant PRAD-UK 1 108369971 108369971 single base substitution A G intron_variant PRAD-UK 1 108379872 108379872 single base substitution G A intron_variant PRAD-UK 1 108383590 108383590 single base substitution G T intron_variant PRAD-UK 1 108386710 108386710 single base substitution C T intron_variant PRAD-UK 1 108389265 108389265 single base substitution G C intron_variant PRAD-UK 1 108395721 108395721 single base substitution T C intron_variant PRAD-UK 1 108401493 108401493 single base substitution T C intron_variant PRAD-UK 1 108418851 108418851 single base substitution C G intron_variant PRAD-UK 1 108419039 108419039 single base substitution T C intron_variant PRAD-UK 1 108431813 108431813 insertion of <=200bp - T intron_variant PRAD-UK 1 108437829 108437829 single base substitution T C intron_variant PRAD-UK 1 108444968 108444968 deletion of <=200bp T - intron_variant PRAD-UK 1 108444968 108444968 single base substitution T A intron_variant PRAD-UK 1 108452781 108452781 single base substitution A G intron_variant PRAD-UK 1 108459400 108459400 insertion of <=200bp - TGAA intron_variant PRAD-UK 1 108461520 108461520 single base substitution G T intron_variant PRAD-UK 1 108465447 108465447 single base substitution G A intron_variant PRAD-UK 1 108488304 108488304 single base substitution C T intron_variant PRAD-UK 1 108489404 108489404 single base substitution T A intron_variant PRAD-UK 1 108500180 108500180 single base substitution C T intron_variant PRAD-UK 1 108502678 108502678 single base substitution C A intron_variant PRAD-UK 1 108504582 108504582 single base substitution G C intron_variant PRAD-UK 1 108506038 108506038 single base substitution A G intron_variant PRAD-UK 1 108506038 108506038 single base substitution A G splice_donor_variant PRAD-US 1 108247662 108247662 single base substitution A G exon_variant PRAD-US 1 108247662 108247662 single base substitution A G synonymous_variant Y443Y 1329T>C PRAD-US 1 108247662 108247662 single base substitution A G synonymous_variant Y502Y 1506T>C PRAD-US 1 108247662 108247662 single base substitution A G synonymous_variant Y508Y 1524T>C PRAD-US 1 108247662 108247662 single base substitution A G synonymous_variant Y59Y 177T>C PRAD-US 1 108417620 108417620 single base substitution A C exon_variant PRAD-US 1 108417620 108417620 single base substitution A C missense_variant I10R 29T>G PRAD-US 1 108417620 108417620 single base substitution A C missense_variant I69R 206T>G PRAD-US 1 108417620 108417620 single base substitution A C missense_variant I75R 224T>G READ-US 1 108291593 108291593 single base substitution G A exon_variant READ-US 1 108291593 108291593 single base substitution G A missense_variant A435V 1304C>T READ-US 1 108291593 108291593 single base substitution G A missense_variant A494V 1481C>T READ-US 1 108291593 108291593 single base substitution G A missense_variant A500V 1499C>T READ-US 1 108291593 108291593 single base substitution G A missense_variant A51V 152C>T READ-US 1 108417615 108417615 single base substitution T C exon_variant READ-US 1 108417615 108417615 single base substitution T C missense_variant T12A 34A>G READ-US 1 108417615 108417615 single base substitution T C missense_variant T71A 211A>G READ-US 1 108417615 108417615 single base substitution T C missense_variant T77A 229A>G RECA-EU 1 108111200 108111200 single base substitution A G downstream_gene_variant RECA-EU 1 108117004 108117004 single base substitution A T intron_variant RECA-EU 1 108124381 108124381 single base substitution G A intron_variant RECA-EU 1 108126892 108126892 single base substitution A C intron_variant RECA-EU 1 108156781 108156781 single base substitution A T downstream_gene_variant RECA-EU 1 108156781 108156781 single base substitution A T intron_variant RECA-EU 1 108159736 108159736 single base substitution C T downstream_gene_variant RECA-EU 1 108159736 108159736 single base substitution C T intron_variant RECA-EU 1 108169485 108169485 single base substitution T G intron_variant RECA-EU 1 108184763 108184763 single base substitution T A intron_variant RECA-EU 1 108186298 108186298 single base substitution T C intron_variant RECA-EU 1 108189250 108189250 single base substitution C A intron_variant RECA-EU 1 108200941 108200941 single base substitution G C intron_variant RECA-EU 1 108206688 108206688 single base substitution A G downstream_gene_variant RECA-EU 1 108206688 108206688 single base substitution A G intron_variant RECA-EU 1 108206843 108206843 single base substitution C T downstream_gene_variant RECA-EU 1 108206843 108206843 single base substitution C T intron_variant RECA-EU 1 108209156 108209156 single base substitution C T downstream_gene_variant RECA-EU 1 108209156 108209156 single base substitution C T intron_variant RECA-EU 1 108212924 108212924 single base substitution A G intron_variant RECA-EU 1 108213724 108213724 single base substitution T C intron_variant RECA-EU 1 108222431 108222431 single base substitution A G intron_variant RECA-EU 1 108222431 108222431 single base substitution A G upstream_gene_variant RECA-EU 1 108229934 108229934 single base substitution A C intron_variant RECA-EU 1 108229934 108229934 single base substitution A C upstream_gene_variant RECA-EU 1 108230717 108230717 single base substitution A G intron_variant RECA-EU 1 108230717 108230717 single base substitution A G upstream_gene_variant RECA-EU 1 108260198 108260198 single base substitution A T intron_variant RECA-EU 1 108265464 108265464 single base substitution T C intron_variant RECA-EU 1 108267394 108267394 single base substitution T A intron_variant RECA-EU 1 108273836 108273836 single base substitution A G intron_variant RECA-EU 1 108285826 108285826 single base substitution C A intron_variant RECA-EU 1 108307999 108307999 single base substitution C T downstream_gene_variant RECA-EU 1 108307999 108307999 single base substitution C T intron_variant RECA-EU 1 108310833 108310833 single base substitution T A downstream_gene_variant RECA-EU 1 108310833 108310833 single base substitution T A intron_variant RECA-EU 1 108312207 108312207 single base substitution T A downstream_gene_variant RECA-EU 1 108312207 108312207 single base substitution T A intron_variant RECA-EU 1 108318444 108318444 single base substitution C G intron_variant RECA-EU 1 108330763 108330763 single base substitution C T intron_variant RECA-EU 1 108330763 108330763 single base substitution C T upstream_gene_variant RECA-EU 1 108331405 108331405 single base substitution C T intron_variant RECA-EU 1 108331405 108331405 single base substitution C T upstream_gene_variant RECA-EU 1 108333286 108333286 single base substitution T G intron_variant RECA-EU 1 108351300 108351300 single base substitution T A intron_variant RECA-EU 1 108352007 108352007 single base substitution C G intron_variant RECA-EU 1 108361044 108361044 single base substitution A C intron_variant RECA-EU 1 108362546 108362546 single base substitution G A intron_variant RECA-EU 1 108371157 108371157 single base substitution G A intron_variant RECA-EU 1 108380879 108380879 single base substitution C A intron_variant RECA-EU 1 108389410 108389410 single base substitution T A intron_variant RECA-EU 1 108390139 108390139 single base substitution C T intron_variant RECA-EU 1 108393005 108393005 single base substitution G C intron_variant RECA-EU 1 108406289 108406289 single base substitution C T intron_variant RECA-EU 1 108408716 108408716 single base substitution G C intron_variant RECA-EU 1 108411391 108411391 single base substitution A G intron_variant RECA-EU 1 108413465 108413465 single base substitution T C intron_variant RECA-EU 1 108418644 108418644 single base substitution G A intron_variant RECA-EU 1 108425317 108425317 single base substitution A T intron_variant RECA-EU 1 108452275 108452275 single base substitution A T intron_variant RECA-EU 1 108476781 108476781 single base substitution T C intron_variant RECA-EU 1 108482595 108482595 single base substitution A G intron_variant RECA-EU 1 108505939 108505939 single base substitution G A intron_variant SKCA-BR 1 108109139 108109139 single base substitution A T downstream_gene_variant SKCA-BR 1 108109236 108109236 single base substitution C T downstream_gene_variant SKCA-BR 1 108109317 108109317 single base substitution T G downstream_gene_variant SKCA-BR 1 108109323 108109323 single base substitution T G downstream_gene_variant SKCA-BR 1 108109821 108109821 single base substitution G A downstream_gene_variant SKCA-BR 1 108110429 108110429 single base substitution G A downstream_gene_variant SKCA-BR 1 108113635 108113635 single base substitution T G downstream_gene_variant SKCA-BR 1 108117622 108117640 deletion of <=200bp TGCGCGCGCGCGCGCGCAC - intron_variant SKCA-BR 1 108118946 108118946 single base substitution G A intron_variant SKCA-BR 1 108119355 108119355 single base substitution A C intron_variant SKCA-BR 1 108119959 108119959 single base substitution C T intron_variant SKCA-BR 1 108120436 108120436 single base substitution G A intron_variant SKCA-BR 1 108121716 108121716 single base substitution C T intron_variant SKCA-BR 1 108122739 108122739 single base substitution G A intron_variant SKCA-BR 1 108126240 108126240 single base substitution G A intron_variant SKCA-BR 1 108127291 108127291 single base substitution C T intron_variant SKCA-BR 1 108127467 108127467 single base substitution C T intron_variant SKCA-BR 1 108127680 108127680 single base substitution G C intron_variant SKCA-BR 1 108128995 108128995 single base substitution G A intron_variant SKCA-BR 1 108129671 108129671 single base substitution G A intron_variant SKCA-BR 1 108129731 108129731 single base substitution G C intron_variant SKCA-BR 1 108130585 108130585 single base substitution G C intron_variant SKCA-BR 1 108130989 108130989 single base substitution G T intron_variant SKCA-BR 1 108132251 108132251 single base substitution G C intron_variant SKCA-BR 1 108133405 108133405 single base substitution A C intron_variant SKCA-BR 1 108134355 108134355 single base substitution C A downstream_gene_variant SKCA-BR 1 108134355 108134355 single base substitution C A intron_variant SKCA-BR 1 108141557 108141557 single base substitution G A downstream_gene_variant SKCA-BR 1 108141557 108141557 single base substitution G A intron_variant SKCA-BR 1 108142450 108142450 single base substitution C T downstream_gene_variant SKCA-BR 1 108142450 108142450 single base substitution C T intron_variant SKCA-BR 1 108142457 108142457 single base substitution C T downstream_gene_variant SKCA-BR 1 108142457 108142457 single base substitution C T intron_variant SKCA-BR 1 108142531 108142531 single base substitution G T downstream_gene_variant SKCA-BR 1 108142531 108142531 single base substitution G T intron_variant SKCA-BR 1 108142565 108142565 single base substitution A T downstream_gene_variant SKCA-BR 1 108142565 108142565 single base substitution A T intron_variant SKCA-BR 1 108147676 108147676 single base substitution G A downstream_gene_variant SKCA-BR 1 108147676 108147676 single base substitution G A intron_variant SKCA-BR 1 108147952 108147952 single base substitution G A downstream_gene_variant SKCA-BR 1 108147952 108147952 single base substitution G A intron_variant SKCA-BR 1 108148975 108148975 single base substitution C T downstream_gene_variant SKCA-BR 1 108148975 108148975 single base substitution C T intron_variant SKCA-BR 1 108149025 108149025 single base substitution C T downstream_gene_variant SKCA-BR 1 108149025 108149025 single base substitution C T intron_variant SKCA-BR 1 108149229 108149229 single base substitution C T downstream_gene_variant SKCA-BR 1 108149229 108149229 single base substitution C T intron_variant SKCA-BR 1 108152243 108152243 single base substitution C T downstream_gene_variant SKCA-BR 1 108152243 108152243 single base substitution C T intron_variant SKCA-BR 1 108153146 108153146 single base substitution G A intron_variant SKCA-BR 1 108153347 108153347 single base substitution G A intron_variant SKCA-BR 1 108154340 108154340 single base substitution G A intron_variant SKCA-BR 1 108154594 108154594 single base substitution C T intron_variant SKCA-BR 1 108154747 108154747 single base substitution A G intron_variant SKCA-BR 1 108157475 108157475 single base substitution G A downstream_gene_variant SKCA-BR 1 108157475 108157475 single base substitution G A intron_variant SKCA-BR 1 108162703 108162703 single base substitution T A intron_variant SKCA-BR 1 108163711 108163711 insertion of <=200bp - ATTTT intron_variant SKCA-BR 1 108166996 108166996 insertion of <=200bp - CTG intron_variant SKCA-BR 1 108171087 108171087 single base substitution C T intron_variant SKCA-BR 1 108171864 108171864 single base substitution T A intron_variant SKCA-BR 1 108180198 108180198 single base substitution T C intron_variant SKCA-BR 1 108182313 108182313 single base substitution C T intron_variant SKCA-BR 1 108186726 108186726 single base substitution C T intron_variant SKCA-BR 1 108187547 108187585 deletion of <=200bp TGTATACACTAGTATACTCTGTATACTCGAGTATACAGA - intron_variant SKCA-BR 1 108187943 108187944 deletion of <=200bp AT - intron_variant SKCA-BR 1 108189086 108189086 single base substitution C T intron_variant SKCA-BR 1 108192103 108192103 single base substitution G A intron_variant SKCA-BR 1 108193681 108193681 single base substitution C T intron_variant SKCA-BR 1 108194593 108194593 single base substitution C T intron_variant SKCA-BR 1 108196174 108196174 single base substitution C T intron_variant SKCA-BR 1 108197185 108197185 single base substitution C A intron_variant SKCA-BR 1 108199565 108199570 deletion of <=200bp CTTTTT - intron_variant SKCA-BR 1 108203160 108203160 single base substitution G A intron_variant SKCA-BR 1 108203288 108203288 single base substitution C T intron_variant SKCA-BR 1 108203748 108203748 single base substitution G A intron_variant SKCA-BR 1 108204227 108204227 single base substitution G A intron_variant SKCA-BR 1 108206402 108206402 single base substitution G A intron_variant SKCA-BR 1 108209076 108209076 single base substitution T G downstream_gene_variant SKCA-BR 1 108209076 108209076 single base substitution T G intron_variant SKCA-BR 1 108211602 108211602 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 108211602 108211602 single base substitution G A exon_variant SKCA-BR 1 108211602 108211602 single base substitution G A intron_variant SKCA-BR 1 108216148 108216148 single base substitution C T intron_variant SKCA-BR 1 108218827 108218827 single base substitution C T intron_variant SKCA-BR 1 108218827 108218827 single base substitution C T upstream_gene_variant SKCA-BR 1 108219013 108219013 single base substitution G A intron_variant SKCA-BR 1 108219013 108219013 single base substitution G A upstream_gene_variant SKCA-BR 1 108219625 108219625 single base substitution G A intron_variant SKCA-BR 1 108219625 108219625 single base substitution G A upstream_gene_variant SKCA-BR 1 108222335 108222335 single base substitution C A intron_variant SKCA-BR 1 108222335 108222335 single base substitution C A upstream_gene_variant SKCA-BR 1 108222420 108222420 single base substitution C T intron_variant SKCA-BR 1 108222420 108222420 single base substitution C T upstream_gene_variant SKCA-BR 1 108224885 108224885 single base substitution G A intron_variant SKCA-BR 1 108224885 108224885 single base substitution G A upstream_gene_variant SKCA-BR 1 108228763 108228763 single base substitution G A intron_variant SKCA-BR 1 108228763 108228763 single base substitution G A upstream_gene_variant SKCA-BR 1 108229687 108229687 single base substitution G A intron_variant SKCA-BR 1 108229687 108229687 single base substitution G A upstream_gene_variant SKCA-BR 1 108235649 108235649 single base substitution G A intron_variant SKCA-BR 1 108235649 108235649 single base substitution G A upstream_gene_variant SKCA-BR 1 108238568 108238568 single base substitution C T intron_variant SKCA-BR 1 108243935 108243964 deletion of <=200bp GGCCTGGGGCTTGCACCCTCTGAAGCAACA - intron_variant SKCA-BR 1 108245417 108245421 deletion of <=200bp CAAAA - intron_variant SKCA-BR 1 108245615 108245615 single base substitution C T intron_variant SKCA-BR 1 108247976 108247976 insertion of <=200bp - GA intron_variant SKCA-BR 1 108252254 108252254 single base substitution G A intron_variant SKCA-BR 1 108254179 108254179 single base substitution C T intron_variant SKCA-BR 1 108254180 108254180 single base substitution C T intron_variant SKCA-BR 1 108255573 108255573 single base substitution C T intron_variant SKCA-BR 1 108256362 108256362 single base substitution G C intron_variant SKCA-BR 1 108256461 108256461 single base substitution C T intron_variant SKCA-BR 1 108257314 108257314 single base substitution G A intron_variant SKCA-BR 1 108261648 108261648 single base substitution C T intron_variant SKCA-BR 1 108263075 108263076 deletion of <=200bp TA - intron_variant SKCA-BR 1 108266378 108266378 single base substitution C T intron_variant SKCA-BR 1 108267263 108267263 single base substitution G A intron_variant SKCA-BR 1 108269260 108269260 single base substitution T G intron_variant SKCA-BR 1 108269658 108269658 single base substitution G A intron_variant SKCA-BR 1 108269687 108269687 single base substitution C T intron_variant SKCA-BR 1 108270871 108270871 single base substitution G A intron_variant SKCA-BR 1 108270872 108270872 single base substitution G A intron_variant SKCA-BR 1 108270897 108270897 single base substitution C T intron_variant SKCA-BR 1 108271140 108271140 single base substitution C T intron_variant SKCA-BR 1 108271210 108271210 insertion of <=200bp - TGTATACGTATACGTATAC intron_variant SKCA-BR 1 108271222 108271222 single base substitution C T intron_variant SKCA-BR 1 108271228 108271228 single base substitution T C intron_variant SKCA-BR 1 108271234 108271234 single base substitution T C intron_variant SKCA-BR 1 108271240 108271240 single base substitution T C intron_variant SKCA-BR 1 108278872 108278872 single base substitution C T intron_variant SKCA-BR 1 108280223 108280223 single base substitution A T intron_variant SKCA-BR 1 108281066 108281066 single base substitution T A intron_variant SKCA-BR 1 108281242 108281242 single base substitution C T intron_variant SKCA-BR 1 108285391 108285391 single base substitution G C intron_variant SKCA-BR 1 108286368 108286368 single base substitution A G intron_variant SKCA-BR 1 108286488 108286488 single base substitution C T intron_variant SKCA-BR 1 108286703 108286703 single base substitution G A intron_variant SKCA-BR 1 108288030 108288030 single base substitution T C intron_variant SKCA-BR 1 108288712 108288712 single base substitution A G intron_variant SKCA-BR 1 108289722 108289722 single base substitution G A intron_variant SKCA-BR 1 108290492 108290492 single base substitution C T intron_variant SKCA-BR 1 108290702 108290702 single base substitution C T intron_variant SKCA-BR 1 108292007 108292007 single base substitution C A intron_variant SKCA-BR 1 108296096 108296098 deletion of <=200bp ATG - intron_variant SKCA-BR 1 108296096 108296098 deletion of <=200bp ATG - upstream_gene_variant SKCA-BR 1 108296115 108296115 insertion of <=200bp - TACACACATATATATACAC intron_variant SKCA-BR 1 108296115 108296115 insertion of <=200bp - TACACACATATATATACAC upstream_gene_variant SKCA-BR 1 108296129 108296129 insertion of <=200bp - TACAC intron_variant SKCA-BR 1 108296129 108296129 insertion of <=200bp - TACAC upstream_gene_variant SKCA-BR 1 108296131 108296131 single base substitution C T intron_variant SKCA-BR 1 108296131 108296131 single base substitution C T upstream_gene_variant SKCA-BR 1 108296137 108296137 single base substitution T C intron_variant SKCA-BR 1 108296137 108296137 single base substitution T C upstream_gene_variant SKCA-BR 1 108296139 108296139 single base substitution T C intron_variant SKCA-BR 1 108296139 108296139 single base substitution T C upstream_gene_variant SKCA-BR 1 108296145 108296145 single base substitution T C intron_variant SKCA-BR 1 108296145 108296145 single base substitution T C upstream_gene_variant SKCA-BR 1 108296162 108296162 single base substitution A G intron_variant SKCA-BR 1 108296162 108296162 single base substitution A G upstream_gene_variant SKCA-BR 1 108296171 108296171 insertion of <=200bp - TATATACACACACAC intron_variant SKCA-BR 1 108296171 108296171 insertion of <=200bp - TATATACACACACAC upstream_gene_variant SKCA-BR 1 108296508 108296508 single base substitution T G intron_variant SKCA-BR 1 108296508 108296508 single base substitution T G upstream_gene_variant SKCA-BR 1 108296629 108296629 single base substitution G A intron_variant SKCA-BR 1 108296629 108296629 single base substitution G A upstream_gene_variant SKCA-BR 1 108302844 108302844 single base substitution C T intron_variant SKCA-BR 1 108303872 108303872 single base substitution G A intron_variant SKCA-BR 1 108307805 108307805 single base substitution G A downstream_gene_variant SKCA-BR 1 108307805 108307805 single base substitution G A splice_region_variant SKCA-BR 1 108309177 108309177 single base substitution G A downstream_gene_variant SKCA-BR 1 108309177 108309177 single base substitution G A intron_variant SKCA-BR 1 108309177 108309177 single base substitution G A splice_region_variant SKCA-BR 1 108310188 108310188 single base substitution G A downstream_gene_variant SKCA-BR 1 108310188 108310188 single base substitution G A intron_variant SKCA-BR 1 108310974 108310974 single base substitution G A downstream_gene_variant SKCA-BR 1 108310974 108310974 single base substitution G A intron_variant SKCA-BR 1 108312706 108312706 single base substitution C T downstream_gene_variant SKCA-BR 1 108312706 108312706 single base substitution C T intron_variant SKCA-BR 1 108314980 108314980 single base substitution C T intron_variant SKCA-BR 1 108317576 108317576 single base substitution C T intron_variant SKCA-BR 1 108317809 108317809 single base substitution G A intron_variant SKCA-BR 1 108319850 108319850 single base substitution T G splice_region_variant SKCA-BR 1 108325221 108325221 single base substitution C T intron_variant SKCA-BR 1 108325440 108325440 single base substitution A C intron_variant SKCA-BR 1 108326431 108326431 single base substitution G A intron_variant SKCA-BR 1 108326453 108326453 single base substitution G A intron_variant SKCA-BR 1 108327110 108327110 single base substitution T A intron_variant SKCA-BR 1 108328498 108328498 single base substitution C G intron_variant SKCA-BR 1 108328498 108328498 single base substitution C G upstream_gene_variant SKCA-BR 1 108330082 108330082 single base substitution C T intron_variant SKCA-BR 1 108330082 108330082 single base substitution C T upstream_gene_variant SKCA-BR 1 108333187 108333187 single base substitution G A intron_variant SKCA-BR 1 108333187 108333187 single base substitution G A upstream_gene_variant SKCA-BR 1 108333986 108333986 single base substitution G A intron_variant SKCA-BR 1 108336482 108336482 single base substitution G A intron_variant SKCA-BR 1 108336901 108336901 single base substitution T G intron_variant SKCA-BR 1 108336974 108336974 single base substitution C T intron_variant SKCA-BR 1 108336975 108336976 deletion of <=200bp TC - intron_variant SKCA-BR 1 108337043 108337043 single base substitution C T intron_variant SKCA-BR 1 108339422 108339422 insertion of <=200bp - AAT intron_variant SKCA-BR 1 108339425 108339425 single base substitution A T intron_variant SKCA-BR 1 108342338 108342338 single base substitution C T intron_variant SKCA-BR 1 108342488 108342488 single base substitution A G intron_variant SKCA-BR 1 108346072 108346072 single base substitution C T intron_variant SKCA-BR 1 108353083 108353089 deletion of <=200bp TTATATC - intron_variant SKCA-BR 1 108353281 108353281 single base substitution C T intron_variant SKCA-BR 1 108358502 108358502 single base substitution G T intron_variant SKCA-BR 1 108359530 108359530 single base substitution C T intron_variant SKCA-BR 1 108360049 108360049 single base substitution G A intron_variant SKCA-BR 1 108362273 108362273 single base substitution G A intron_variant SKCA-BR 1 108362859 108362859 single base substitution G A intron_variant SKCA-BR 1 108363106 108363106 single base substitution G A intron_variant SKCA-BR 1 108363663 108363663 single base substitution G A intron_variant SKCA-BR 1 108363663 108363663 single base substitution G A upstream_gene_variant SKCA-BR 1 108365012 108365012 single base substitution C T intron_variant SKCA-BR 1 108365012 108365012 single base substitution C T upstream_gene_variant SKCA-BR 1 108365283 108365283 single base substitution T A intron_variant SKCA-BR 1 108365283 108365283 single base substitution T A upstream_gene_variant SKCA-BR 1 108368877 108368877 single base substitution G A intron_variant SKCA-BR 1 108372794 108372794 single base substitution C T intron_variant SKCA-BR 1 108376015 108376015 single base substitution A C intron_variant SKCA-BR 1 108377789 108377789 single base substitution A C intron_variant SKCA-BR 1 108379197 108379197 single base substitution G A intron_variant SKCA-BR 1 108380674 108380674 single base substitution C T intron_variant SKCA-BR 1 108383543 108383544 deletion of <=200bp TA - intron_variant SKCA-BR 1 108385417 108385417 single base substitution C T intron_variant SKCA-BR 1 108386524 108386524 single base substitution C T intron_variant SKCA-BR 1 108388009 108388009 single base substitution C T intron_variant SKCA-BR 1 108389301 108389301 single base substitution G C intron_variant SKCA-BR 1 108389906 108389906 single base substitution G A intron_variant SKCA-BR 1 108391828 108391828 single base substitution G A intron_variant SKCA-BR 1 108391864 108391864 insertion of <=200bp - CA intron_variant SKCA-BR 1 108393108 108393108 single base substitution T C intron_variant SKCA-BR 1 108393430 108393430 single base substitution C T intron_variant SKCA-BR 1 108394047 108394047 single base substitution G T intron_variant SKCA-BR 1 108396517 108396517 single base substitution A C intron_variant SKCA-BR 1 108397091 108397091 single base substitution C T intron_variant SKCA-BR 1 108399115 108399115 single base substitution G A intron_variant SKCA-BR 1 108401331 108401331 single base substitution G A intron_variant SKCA-BR 1 108403495 108403495 single base substitution A C intron_variant SKCA-BR 1 108404080 108404080 single base substitution G A intron_variant SKCA-BR 1 108408363 108408363 single base substitution T C intron_variant SKCA-BR 1 108408658 108408658 single base substitution G A intron_variant SKCA-BR 1 108410396 108410396 single base substitution G A intron_variant SKCA-BR 1 108414190 108414190 single base substitution G A intron_variant SKCA-BR 1 108418346 108418346 single base substitution G A intron_variant SKCA-BR 1 108421029 108421029 single base substitution T C intron_variant SKCA-BR 1 108422417 108422417 single base substitution C T intron_variant SKCA-BR 1 108423142 108423142 single base substitution A G intron_variant SKCA-BR 1 108426908 108426908 single base substitution G A intron_variant SKCA-BR 1 108427182 108427182 single base substitution C T intron_variant SKCA-BR 1 108427747 108427747 single base substitution G A intron_variant SKCA-BR 1 108428377 108428377 single base substitution T C intron_variant SKCA-BR 1 108429934 108429934 single base substitution A G intron_variant SKCA-BR 1 108429997 108429997 single base substitution A G intron_variant SKCA-BR 1 108431321 108431321 single base substitution T C intron_variant SKCA-BR 1 108431492 108431492 single base substitution C A intron_variant SKCA-BR 1 108431976 108431976 single base substitution G A intron_variant SKCA-BR 1 108434485 108434487 deletion of <=200bp AAG - intron_variant SKCA-BR 1 108434566 108434566 single base substitution A G intron_variant SKCA-BR 1 108434732 108434732 single base substitution C T intron_variant SKCA-BR 1 108434733 108434733 single base substitution C T intron_variant SKCA-BR 1 108435929 108435929 single base substitution G A intron_variant SKCA-BR 1 108436092 108436092 single base substitution G A intron_variant SKCA-BR 1 108439138 108439138 single base substitution G A intron_variant SKCA-BR 1 108439711 108439711 single base substitution A C intron_variant SKCA-BR 1 108443952 108443952 single base substitution G A intron_variant SKCA-BR 1 108447129 108447129 single base substitution C T intron_variant SKCA-BR 1 108447460 108447463 deletion of <=200bp TATC - intron_variant SKCA-BR 1 108447652 108447652 single base substitution G A intron_variant SKCA-BR 1 108450761 108450761 single base substitution C T intron_variant SKCA-BR 1 108452230 108452230 single base substitution G A intron_variant SKCA-BR 1 108453808 108453808 single base substitution C T intron_variant SKCA-BR 1 108454411 108454411 single base substitution C T intron_variant SKCA-BR 1 108454416 108454416 single base substitution C T intron_variant SKCA-BR 1 108456243 108456243 single base substitution A G intron_variant SKCA-BR 1 108458108 108458108 single base substitution T G intron_variant SKCA-BR 1 108462157 108462157 single base substitution G A intron_variant SKCA-BR 1 108462989 108462989 single base substitution G A intron_variant SKCA-BR 1 108465480 108465480 single base substitution G A intron_variant SKCA-BR 1 108471739 108471739 single base substitution G A intron_variant SKCA-BR 1 108471918 108471918 insertion of <=200bp - AG intron_variant SKCA-BR 1 108474052 108474052 single base substitution T A intron_variant SKCA-BR 1 108474054 108474054 single base substitution T A intron_variant SKCA-BR 1 108477225 108477225 single base substitution G A intron_variant SKCA-BR 1 108478997 108478997 single base substitution T A intron_variant SKCA-BR 1 108480782 108480782 single base substitution G A intron_variant SKCA-BR 1 108482057 108482057 single base substitution G A intron_variant SKCA-BR 1 108482133 108482133 single base substitution C A intron_variant SKCA-BR 1 108486162 108486162 single base substitution C T intron_variant SKCA-BR 1 108486487 108486487 single base substitution A G intron_variant SKCA-BR 1 108488458 108488460 deletion of <=200bp AAG - intron_variant SKCA-BR 1 108491487 108491487 single base substitution A C intron_variant SKCA-BR 1 108493101 108493101 single base substitution G A intron_variant SKCA-BR 1 108494433 108494433 insertion of <=200bp - CAA intron_variant SKCA-BR 1 108500090 108500090 single base substitution T G intron_variant SKCA-BR 1 108501893 108501893 single base substitution A T intron_variant SKCA-BR 1 108505934 108505934 single base substitution A G intron_variant SKCA-BR 1 108509470 108509470 single base substitution A G upstream_gene_variant SKCA-BR 1 108509748 108509749 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 1 108509779 108509779 single base substitution T G upstream_gene_variant SKCA-BR 1 108510670 108510671 deletion of <=200bp AT - upstream_gene_variant SKCM-US 1 108145775 108145775 single base substitution C T 3_prime_UTR_variant SKCM-US 1 108145775 108145775 single base substitution C T exon_variant SKCM-US 1 108145775 108145775 single base substitution C T missense_variant A116T 346G>A SKCM-US 1 108145775 108145775 single base substitution C T missense_variant A676T 2026G>A SKCM-US 1 108145775 108145775 single base substitution C T missense_variant A80T 238G>A SKCM-US 1 108152553 108152553 single base substitution C T exon_variant SKCM-US 1 108152553 108152553 single base substitution C T splice_region_variant SKCM-US 1 108152553 108152553 single base substitution C T stop_gained W112* 335G>A SKCM-US 1 108152553 108152553 single base substitution C T stop_gained W672* 2015G>A SKCM-US 1 108152553 108152553 single base substitution C T stop_gained W76* 227G>A SKCM-US 1 108226151 108226151 single base substitution C T exon_variant SKCM-US 1 108226151 108226151 single base substitution C T intron_variant SKCM-US 1 108226151 108226151 single base substitution C T missense_variant R19Q 56G>A SKCM-US 1 108226151 108226151 single base substitution C T missense_variant R514Q 1541G>A SKCM-US 1 108226151 108226151 single base substitution C T missense_variant R573Q 1718G>A SKCM-US 1 108226151 108226151 single base substitution C T missense_variant R579Q 1736G>A SKCM-US 1 108247175 108247175 single base substitution C T exon_variant SKCM-US 1 108247175 108247175 single base substitution C T missense_variant G119S 355G>A SKCM-US 1 108247175 108247175 single base substitution C T missense_variant G503S 1507G>A SKCM-US 1 108247175 108247175 single base substitution C T missense_variant G562S 1684G>A SKCM-US 1 108247175 108247175 single base substitution C T missense_variant G568S 1702G>A SKCM-US 1 108292186 108292186 single base substitution G A exon_variant SKCM-US 1 108292186 108292186 single base substitution G A synonymous_variant I365I 1095C>T SKCM-US 1 108292186 108292186 single base substitution G A synonymous_variant I424I 1272C>T SKCM-US 1 108292186 108292186 single base substitution G A synonymous_variant I430I 1290C>T SKCM-US 1 108292186 108292186 single base substitution G A upstream_gene_variant SKCM-US 1 108293799 108293799 single base substitution C T exon_variant SKCM-US 1 108293799 108293799 single base substitution C T missense_variant R335Q 1004G>A SKCM-US 1 108293799 108293799 single base substitution C T missense_variant R394Q 1181G>A SKCM-US 1 108293799 108293799 single base substitution C T missense_variant R400Q 1199G>A SKCM-US 1 108293799 108293799 single base substitution C T upstream_gene_variant SKCM-US 1 108303444 108303444 single base substitution G A exon_variant SKCM-US 1 108303444 108303444 single base substitution G A missense_variant P262S 784C>T SKCM-US 1 108303444 108303444 single base substitution G A missense_variant P321S 961C>T SKCM-US 1 108303444 108303444 single base substitution G A missense_variant P327S 979C>T SKCM-US 1 108303475 108303475 single base substitution C T exon_variant SKCM-US 1 108303475 108303475 single base substitution C T synonymous_variant G251G 753G>A SKCM-US 1 108303475 108303475 single base substitution C T synonymous_variant G310G 930G>A SKCM-US 1 108303475 108303475 single base substitution C T synonymous_variant G316G 948G>A SKCM-US 1 108309157 108309157 single base substitution G A downstream_gene_variant SKCM-US 1 108309157 108309157 single base substitution G A exon_variant SKCM-US 1 108309157 108309157 single base substitution G A missense_variant H180Y 538C>T SKCM-US 1 108309157 108309157 single base substitution G A missense_variant H239Y 715C>T SKCM-US 1 108309157 108309157 single base substitution G A missense_variant H245Y 733C>T SKCM-US 1 108311104 108311104 single base substitution G A downstream_gene_variant SKCM-US 1 108311104 108311104 single base substitution G A exon_variant SKCM-US 1 108311104 108311104 single base substitution G A synonymous_variant L161L 481C>T SKCM-US 1 108311104 108311104 single base substitution G A synonymous_variant L220L 658C>T SKCM-US 1 108311104 108311104 single base substitution G A synonymous_variant L226L 676C>T SKCM-US 1 108313328 108313328 single base substitution C T exon_variant SKCM-US 1 108313328 108313328 single base substitution C T missense_variant R128Q 383G>A SKCM-US 1 108313328 108313328 single base substitution C T missense_variant R187Q 560G>A SKCM-US 1 108313328 108313328 single base substitution C T missense_variant R193Q 578G>A SKCM-US 1 108313335 108313335 single base substitution C T exon_variant SKCM-US 1 108313335 108313335 single base substitution C T missense_variant D126N 376G>A SKCM-US 1 108313335 108313335 single base substitution C T missense_variant D185N 553G>A SKCM-US 1 108313335 108313335 single base substitution C T missense_variant D191N 571G>A SKCM-US 1 108315413 108315413 single base substitution C T exon_variant SKCM-US 1 108315413 108315413 single base substitution C T missense_variant D102N 304G>A SKCM-US 1 108315413 108315413 single base substitution C T missense_variant D161N 481G>A SKCM-US 1 108315413 108315413 single base substitution C T missense_variant D167N 499G>A SKCM-US 1 108417609 108417609 single base substitution G A exon_variant SKCM-US 1 108417609 108417609 single base substitution G A missense_variant L14F 40C>T SKCM-US 1 108417609 108417609 single base substitution G A missense_variant L73F 217C>T SKCM-US 1 108417609 108417609 single base substitution G A missense_variant L79F 235C>T SKCM-US 1 108507321 108507321 single base substitution C T 5_prime_UTR_variant SKCM-US 1 108507321 108507321 single base substitution C T synonymous_variant L51L 153G>A SKCM-US 1 108507321 108507321 single base substitution C T synonymous_variant L57L 171G>A SKCM-US 1 108507321 108507321 single base substitution C T upstream_gene_variant SKCM-US 1 108507542 108507544 deletion of <=200bp GCC - 5_prime_UTR_variant SKCM-US 1 108507542 108507544 deletion of <=200bp GCC - upstream_gene_variant STAD-US 1 108115957 108115957 single base substitution T C 3_prime_UTR_variant STAD-US 1 108115957 108115957 single base substitution T C exon_variant STAD-US 1 108115957 108115957 single base substitution T C missense_variant E251G 752A>G STAD-US 1 108115957 108115957 single base substitution T C missense_variant E287G 860A>G STAD-US 1 108115957 108115957 single base substitution T C missense_variant E847G 2540A>G STAD-US 1 108115957 108115957 single base substitution T C missense_variant E875G 2624A>G STAD-US 1 108116784 108116784 single base substitution C T 3_prime_UTR_variant STAD-US 1 108116784 108116784 single base substitution C T exon_variant STAD-US 1 108116784 108116784 single base substitution C T missense_variant R200Q 599G>A STAD-US 1 108116784 108116784 single base substitution C T missense_variant R236Q 707G>A STAD-US 1 108116784 108116784 single base substitution C T missense_variant R796Q 2387G>A STAD-US 1 108116784 108116784 single base substitution C T missense_variant R824Q 2471G>A STAD-US 1 108116789 108116789 single base substitution G A 3_prime_UTR_variant STAD-US 1 108116789 108116789 single base substitution G A exon_variant STAD-US 1 108116789 108116789 single base substitution G A synonymous_variant I198I 594C>T STAD-US 1 108116789 108116789 single base substitution G A synonymous_variant I234I 702C>T STAD-US 1 108116789 108116789 single base substitution G A synonymous_variant I794I 2382C>T STAD-US 1 108116789 108116789 single base substitution G A synonymous_variant I822I 2466C>T STAD-US 1 108145689 108145689 single base substitution T C 3_prime_UTR_variant STAD-US 1 108145689 108145689 single base substitution T C downstream_gene_variant STAD-US 1 108145689 108145689 single base substitution T C exon_variant STAD-US 1 108145689 108145689 single base substitution T C synonymous_variant G108G 324A>G STAD-US 1 108145689 108145689 single base substitution T C synonymous_variant G144G 432A>G STAD-US 1 108145689 108145689 single base substitution T C synonymous_variant G704G 2112A>G STAD-US 1 108152584 108152584 single base substitution G A 3_prime_UTR_variant STAD-US 1 108152584 108152584 single base substitution G A exon_variant STAD-US 1 108152584 108152584 single base substitution G A missense_variant P102S 304C>T STAD-US 1 108152584 108152584 single base substitution G A missense_variant P662S 1984C>T STAD-US 1 108152584 108152584 single base substitution G A missense_variant P66S 196C>T STAD-US 1 108247235 108247235 single base substitution C T exon_variant STAD-US 1 108247235 108247235 single base substitution C T missense_variant G483R 1447G>A STAD-US 1 108247235 108247235 single base substitution C T missense_variant G542R 1624G>A STAD-US 1 108247235 108247235 single base substitution C T missense_variant G548R 1642G>A STAD-US 1 108247235 108247235 single base substitution C T missense_variant G99R 295G>A STAD-US 1 108298072 108298072 single base substitution A C exon_variant STAD-US 1 108298072 108298072 single base substitution A C missense_variant F319V 955T>G STAD-US 1 108298072 108298072 single base substitution A C missense_variant F378V 1132T>G STAD-US 1 108298072 108298072 single base substitution A C missense_variant F384V 1150T>G STAD-US 1 108303435 108303435 single base substitution G A exon_variant STAD-US 1 108303435 108303435 single base substitution G A missense_variant R265C 793C>T STAD-US 1 108303435 108303435 single base substitution G A missense_variant R324C 970C>T STAD-US 1 108303435 108303435 single base substitution G A missense_variant R330C 988C>T STAD-US 1 108307782 108307782 single base substitution C T downstream_gene_variant STAD-US 1 108307782 108307782 single base substitution C T exon_variant STAD-US 1 108307782 108307782 single base substitution C T synonymous_variant G214G 642G>A STAD-US 1 108307782 108307782 single base substitution C T synonymous_variant G273G 819G>A STAD-US 1 108307782 108307782 single base substitution C T synonymous_variant G279G 837G>A STAD-US 1 108307785 108307785 single base substitution G A downstream_gene_variant STAD-US 1 108307785 108307785 single base substitution G A exon_variant STAD-US 1 108307785 108307785 single base substitution G A synonymous_variant Y213Y 639C>T STAD-US 1 108307785 108307785 single base substitution G A synonymous_variant Y272Y 816C>T STAD-US 1 108307785 108307785 single base substitution G A synonymous_variant Y278Y 834C>T STAD-US 1 108313276 108313276 single base substitution A C downstream_gene_variant STAD-US 1 108313276 108313276 single base substitution A C exon_variant STAD-US 1 108313276 108313276 single base substitution A C synonymous_variant T145T 435T>G STAD-US 1 108313276 108313276 single base substitution A C synonymous_variant T204T 612T>G STAD-US 1 108313276 108313276 single base substitution A C synonymous_variant T210T 630T>G STAD-US 1 108315356 108315356 single base substitution C T splice_donor_variant STAD-US 1 108417568 108417568 single base substitution T G exon_variant STAD-US 1 108417568 108417568 single base substitution T G missense_variant E27D 81A>C STAD-US 1 108417568 108417568 single base substitution T G missense_variant E86D 258A>C STAD-US 1 108417568 108417568 single base substitution T G missense_variant E92D 276A>C STAD-US 1 108417623 108417623 single base substitution T C exon_variant STAD-US 1 108417623 108417623 single base substitution T C missense_variant N68S 203A>G STAD-US 1 108417623 108417623 single base substitution T C missense_variant N74S 221A>G STAD-US 1 108417623 108417623 single base substitution T C missense_variant N9S 26A>G STAD-US 1 108507366 108507366 single base substitution C T 5_prime_UTR_variant STAD-US 1 108507366 108507366 single base substitution C T synonymous_variant L36L 108G>A STAD-US 1 108507366 108507366 single base substitution C T synonymous_variant L42L 126G>A STAD-US 1 108507366 108507366 single base substitution C T upstream_gene_variant STAD-US 1 108507464 108507464 single base substitution A G 5_prime_UTR_variant STAD-US 1 108507464 108507464 single base substitution A G missense_variant W10R 28T>C STAD-US 1 108507464 108507464 single base substitution A G missense_variant W4R 10T>C STAD-US 1 108507464 108507464 single base substitution A G upstream_gene_variant THCA-US 1 108292102 108292102 single base substitution G A exon_variant THCA-US 1 108292102 108292102 single base substitution G A synonymous_variant T393T 1179C>T THCA-US 1 108292102 108292102 single base substitution G A synonymous_variant T452T 1356C>T THCA-US 1 108292102 108292102 single base substitution G A synonymous_variant T458T 1374C>T THCA-US 1 108292102 108292102 single base substitution G A synonymous_variant T9T 27C>T UCEC-US 1 108116790 108116790 single base substitution A G 3_prime_UTR_variant UCEC-US 1 108116790 108116790 single base substitution A G exon_variant UCEC-US 1 108116790 108116790 single base substitution A G missense_variant I198T 593T>C UCEC-US 1 108116790 108116790 single base substitution A G missense_variant I234T 701T>C UCEC-US 1 108116790 108116790 single base substitution A G missense_variant I794T 2381T>C UCEC-US 1 108116790 108116790 single base substitution A G missense_variant I822T 2465T>C UCEC-US 1 108145688 108145688 single base substitution C T 3_prime_UTR_variant UCEC-US 1 108145688 108145688 single base substitution C T downstream_gene_variant UCEC-US 1 108145688 108145688 single base substitution C T exon_variant UCEC-US 1 108145688 108145688 single base substitution C T missense_variant E109K 325G>A UCEC-US 1 108145688 108145688 single base substitution C T missense_variant E145K 433G>A UCEC-US 1 108145688 108145688 single base substitution C T missense_variant E705K 2113G>A UCEC-US 1 108152585 108152585 single base substitution C T splice_region_variant UCEC-US 1 108231050 108231050 single base substitution G A 5_prime_UTR_variant UCEC-US 1 108231050 108231050 single base substitution G A exon_variant UCEC-US 1 108231050 108231050 single base substitution G A intron_variant UCEC-US 1 108231050 108231050 single base substitution G A missense_variant P2S 4C>T UCEC-US 1 108231050 108231050 single base substitution G A upstream_gene_variant UCEC-US 1 108247212 108247212 single base substitution A G exon_variant UCEC-US 1 108247212 108247212 single base substitution A G synonymous_variant C106C 318T>C UCEC-US 1 108247212 108247212 single base substitution A G synonymous_variant C490C 1470T>C UCEC-US 1 108247212 108247212 single base substitution A G synonymous_variant C549C 1647T>C UCEC-US 1 108247212 108247212 single base substitution A G synonymous_variant C555C 1665T>C UCEC-US 1 108247217 108247217 single base substitution C A exon_variant UCEC-US 1 108247217 108247217 single base substitution C A stop_gained E105* 313G>T UCEC-US 1 108247217 108247217 single base substitution C A stop_gained E489* 1465G>T UCEC-US 1 108247217 108247217 single base substitution C A stop_gained E548* 1642G>T UCEC-US 1 108247217 108247217 single base substitution C A stop_gained E554* 1660G>T UCEC-US 1 108247226 108247226 single base substitution C T exon_variant UCEC-US 1 108247226 108247226 single base substitution C T missense_variant A102T 304G>A UCEC-US 1 108247226 108247226 single base substitution C T missense_variant A486T 1456G>A UCEC-US 1 108247226 108247226 single base substitution C T missense_variant A545T 1633G>A UCEC-US 1 108247226 108247226 single base substitution C T missense_variant A551T 1651G>A UCEC-US 1 108291623 108291623 single base substitution T G exon_variant UCEC-US 1 108291623 108291623 single base substitution T G missense_variant K41T 122A>C UCEC-US 1 108291623 108291623 single base substitution T G missense_variant K425T 1274A>C UCEC-US 1 108291623 108291623 single base substitution T G missense_variant K484T 1451A>C UCEC-US 1 108291623 108291623 single base substitution T G missense_variant K490T 1469A>C UCEC-US 1 108291630 108291630 single base substitution C A exon_variant UCEC-US 1 108291630 108291630 single base substitution C A missense_variant D39Y 115G>T UCEC-US 1 108291630 108291630 single base substitution C A missense_variant D423Y 1267G>T UCEC-US 1 108291630 108291630 single base substitution C A missense_variant D482Y 1444G>T UCEC-US 1 108291630 108291630 single base substitution C A missense_variant D488Y 1462G>T UCEC-US 1 108291648 108291648 single base substitution A C exon_variant UCEC-US 1 108291648 108291648 single base substitution A C missense_variant F33V 97T>G UCEC-US 1 108291648 108291648 single base substitution A C missense_variant F417V 1249T>G UCEC-US 1 108291648 108291648 single base substitution A C missense_variant F476V 1426T>G UCEC-US 1 108291648 108291648 single base substitution A C missense_variant F482V 1444T>G UCEC-US 1 108292205 108292207 deletion of <=200bp AAG - disruptive_inframe_deletion FL358L UCEC-US 1 108292205 108292207 deletion of <=200bp AAG - disruptive_inframe_deletion FL417L UCEC-US 1 108292205 108292207 deletion of <=200bp AAG - disruptive_inframe_deletion FL423L UCEC-US 1 108292205 108292207 deletion of <=200bp AAG - exon_variant UCEC-US 1 108292205 108292207 deletion of <=200bp AAG - upstream_gene_variant UCEC-US 1 108292213 108292213 single base substitution A G exon_variant UCEC-US 1 108292213 108292213 single base substitution A G synonymous_variant H356H 1068T>C UCEC-US 1 108292213 108292213 single base substitution A G synonymous_variant H415H 1245T>C UCEC-US 1 108292213 108292213 single base substitution A G synonymous_variant H421H 1263T>C UCEC-US 1 108292213 108292213 single base substitution A G upstream_gene_variant UCEC-US 1 108303481 108303481 single base substitution A T exon_variant UCEC-US 1 108303481 108303481 single base substitution A T missense_variant N249K 747T>A UCEC-US 1 108303481 108303481 single base substitution A T missense_variant N308K 924T>A UCEC-US 1 108303481 108303481 single base substitution A T missense_variant N314K 942T>A UCEC-US 1 108307785 108307785 single base substitution G A downstream_gene_variant UCEC-US 1 108307785 108307785 single base substitution G A exon_variant UCEC-US 1 108307785 108307785 single base substitution G A synonymous_variant Y213Y 639C>T UCEC-US 1 108307785 108307785 single base substitution G A synonymous_variant Y272Y 816C>T UCEC-US 1 108307785 108307785 single base substitution G A synonymous_variant Y278Y 834C>T UCEC-US 1 108313328 108313328 single base substitution C T exon_variant UCEC-US 1 108313328 108313328 single base substitution C T missense_variant R128Q 383G>A UCEC-US 1 108313328 108313328 single base substitution C T missense_variant R187Q 560G>A UCEC-US 1 108313328 108313328 single base substitution C T missense_variant R193Q 578G>A UCEC-US 1 108315437 108315437 single base substitution G A exon_variant UCEC-US 1 108315437 108315437 single base substitution G A missense_variant L153F 457C>T UCEC-US 1 108315437 108315437 single base substitution G A missense_variant L159F 475C>T UCEC-US 1 108315437 108315437 single base substitution G A missense_variant L94F 280C>T UCEC-US 1 108322068 108322068 single base substitution G A exon_variant UCEC-US 1 108322068 108322068 single base substitution G A missense_variant A117V 350C>T UCEC-US 1 108322068 108322068 single base substitution G A missense_variant A123V 368C>T UCEC-US 1 108322068 108322068 single base substitution G A missense_variant A58V 173C>T UCEC-US 1 108417609 108417609 single base substitution G T exon_variant UCEC-US 1 108417609 108417609 single base substitution G T missense_variant L14I 40C>A UCEC-US 1 108417609 108417609 single base substitution G T missense_variant L73I 217C>A UCEC-US 1 108417609 108417609 single base substitution G T missense_variant L79I 235C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-3867-01 COSM296202 c.1711G>A p.G571R Substitution - Missense 1:107688401-107688401 - TCGA-29-1694-01 COSM1320187 c.1940T>A p.V647D Substitution - Missense 1:107617607-107617607 - RK016_C01 COSM1626276 c.1271T>C p.L424S Substitution - Missense 1:107749583-107749583 - Patient_2 COSM5414287 c.637T>C p.S213P Substitution - Missense 1:107770647-107770647 - TCGA-AB-2864-03 COSM1317713 c.1377T>A p.D459E Substitution - Missense 1:107749477-107749477 - LUAD-E00918 COSM364900 c.2284C>A p.L762M Substitution - Missense 1:107596278-107596278 - HCT15 COSM2116618 c.2317G>A p.A773T Substitution - Missense 1:107596245-107596245 - TCGA-D1-A103-01 COSM893335 c.368C>T p.A123V Substitution - Missense 1:107779446-107779446 - TCGA-EB-A1NK-01 COSM3470679 c.499G>A p.D167N Substitution - Missense 1:107772791-107772791 - TCGA-DD-A113-01 COSM4925360 c.518A>C p.Y173S Substitution - Missense 1:107772772-107772772 - TCGA-BR-7197-01 COSM4020191 c.630T>G p.T210T Substitution - coding silent 1:107770654-107770654 - TCGA-AZ-4315-01 COSM1332289 c.349C>T p.R117* Substitution - Nonsense 1:107779465-107779465 - TCGA-24-1103-01 COSM79315 c.613G>T p.E205* Substitution - Nonsense 1:107770671-107770671 - TCGA-AG-A02X-01 COSM290714 c.27G>A p.Q9Q Substitution - coding silent 1:107964843-107964843 - LUAD-NYU627 COSM375359 c.1774C>G p.P592A Substitution - Missense 1:107683491-107683491 - TCGA-CC-A3MB-01 COSM4933613 c.1310A>T p.D437V Substitution - Missense 1:107749544-107749544 - TCGA-A5-A0GP-01 COSM893323 c.1665T>C p.C555C Substitution - coding silent 1:107704590-107704590 - TCGA-AP-A056-01 COSM893329 c.1444T>G p.F482V Substitution - Missense 1:107749026-107749026 - TCGA-25-1320-01 COSM80733 c.672A>G p.R224R Substitution - coding silent 1:107768486-107768486 - TCGA-GF-A6C9-06 COSM4902778 c.171G>A p.L57L Substitution - coding silent 1:107964699-107964699 - 13681 COSM5613727 c.1208G>T p.G403V Substitution - Missense 1:107751168-107751168 - HCC082T COSM5816330 c.1478G>C p.W493S Substitution - Missense 1:107748992-107748992 - TCGA-BS-A0U8-01 COSM893330 c.1269_1271delCTT p.F423delF Deletion - In frame 1:107749583-107749585 - TCGA-ER-A2NH-06 COSM3470675 c.979C>T p.P327S Substitution - Missense 1:107760822-107760822 - DLD1 COSM2116671 c.1037C>T p.T346I Substitution - Missense 1:107757310-107757310 - CSCC-17-T COSM4560264 c.836G>A p.G279E Substitution - Missense 1:107765161-107765161 - T3174 COSM4740205 c.2475C>A p.G825G Substitution - coding silent 1:107574074-107574074 - TCGA-GF-A6C9-06 COSM4900969 c.2015G>A p.W672* Substitution - Nonsense 1:107609931-107609931 - CSB1 COSM5025328 c.1441G>C p.E481Q Substitution - Missense 1:107749029-107749029 - TCGA-AP-A0LF-01 COSM893326 c.1580G>A p.C527Y Substitution - Missense 1:107704984-107704984 - SW1222 COSM4020181 c.2382C>T p.I794I Substitution - coding silent 1:107574167-107574167 - TCGA-D1-A15X-01 COSM893318 c.2381T>C p.I794T Substitution - Missense 1:107574168-107574168 - ML_103_T_01 COSM5033865 c.446+3A>C p.? Unknown 1:107777228-107777228 - SH-1537 COSM5018969 c.2363A>T p.K788I Substitution - Missense 1:107574186-107574186 - YUWAND COSM1688194 c.2012C>T p.P671L Substitution - Missense 1:107609934-107609934 - CSCC-41-T COSM4564700 c.1373_1374CC>TT p.T458I Substitution - Missense 1:107749480-107749481 - HCC168T COSM3704789 c.30G>T p.W10C Substitution - Missense 1:107964840-107964840 - 4T COSM3734146 c.1916delG p.G639fs*4 Deletion - Frameshift 1:107617631-107617631 - TCGA-CH-5754-01 COSM1127499 c.224T>G p.I75R Substitution - Missense 1:107874998-107874998 - 381 COSM4426370 c.1778-3C>A p.? Unknown 1:107642758-107642758 - TCGA-B5-A11E-01 COSM893332 c.942T>A p.N314K Substitution - Missense 1:107760859-107760859 - 40M COSM5586982 c.2031G>A p.M677I Substitution - Missense 1:107603148-107603148 - KM12 COSM2116658 c.1530C>T p.D510D Substitution - coding silent 1:107705034-107705034 - 520 COSM5612132 c.2101A>C p.K701Q Substitution - Missense 1:107603078-107603078 - ME037T COSM227680 c.578G>A p.R193Q Substitution - Missense 1:107770706-107770706 - 587338 COSM1232207 c.1873G>A p.V625I Substitution - Missense 1:107642660-107642660 - TCGA-A6-6141-01 COSM1332282 c.1464T>G p.D488E Substitution - Missense 1:107749006-107749006 - TCGA-AN-A046-01 COSM1688197 c.1222C>T p.R408* Substitution - Nonsense 1:107751154-107751154 - HCT15 COSM2116671 c.1037C>T p.T346I Substitution - Missense 1:107757310-107757310 - TCGA-AP-A0LM-01 COSM893333 c.834C>T p.Y278Y Substitution - coding silent 1:107765163-107765163 - TCGA-EE-A29L-06 COSM3470680 c.235C>T p.L79F Substitution - Missense 1:107874987-107874987 - HX36T COSM1600472 c.22G>A p.A8T Substitution - Missense 1:107964848-107964848 - 1_PRE-TREATMENT COSM1720959 c.1533C>T p.S511S Substitution - coding silent 1:107705031-107705031 - TCGA-CA-6717-01 COSM1332290 c.321G>T p.K107N Substitution - Missense 1:107874901-107874901 - J65_T COSM3975803 c.1778G>A p.G593D Substitution - Missense 1:107642755-107642755 - PD4844a COSM165475 c.1545C>T p.D515D Substitution - coding silent 1:107705019-107705019 - 145T COSM1725676 c.1122T>A p.D374E Substitution - Missense 1:107755478-107755478 - C99 COSM4620281 c.1135C>T p.R379C Substitution - Missense 1:107755465-107755465 - T3202 COSM4740212 c.23C>T p.A8V Substitution - Missense 1:107964847-107964847 - PD4100a COSM165474 c.2273T>G p.L758* Substitution - Nonsense 1:107596289-107596289 - T2269 COSM4740209 c.817G>A p.E273K Substitution - Missense 1:107766451-107766451 - HCC4T COSM1600470 c.1750C>T p.R584* Substitution - Nonsense 1:107683515-107683515 - MO_1179 COSM5560984 c.1107T>C p.N369N Substitution - coding silent 1:107755493-107755493 - BCB307T COSM4950130 c.1173G>C p.L391F Substitution - Missense 1:107755427-107755427 - RMS110_ COSM4416270 c.1846C>T p.P616S Substitution - Missense 1:107642687-107642687 - TCGA-BS-A0UV-01 COSM893336 c.235C>A p.L79I Substitution - Missense 1:107874987-107874987 - TCGA-BR-6454-01 COSM893333 c.834C>T p.Y278Y Substitution - coding silent 1:107765163-107765163 - TARGET-30-PASFGG COSM1288888 c.69G>A p.V23V Substitution - coding silent 1:107964801-107964801 - 065T COSM1730262 c.2239A>T p.K747* Substitution - Nonsense 1:107596323-107596323 - TCGA-BR-4201-01 COSM4020196 c.28T>C p.W10R Substitution - Missense 1:107964842-107964842 - PD11402a COSM5770113 c.831T>C p.I277I Substitution - coding silent 1:107765166-107765166 - LUAD_E01047 COSM389982 c.864C>A p.A288A Substitution - coding silent 1:107765133-107765133 - PCSI_0329_Pa_P_526 COSM1232207 c.1873G>A p.V625I Substitution - Missense 1:107642660-107642660 - ATL047 COSM5704821 c.634G>A p.E212K Substitution - Missense 1:107770650-107770650 - TCGA-EE-A3JD-06 COSM4394409 c.1736G>A p.R579Q Substitution - Missense 1:107683529-107683529 - PT27 COSM5905458 c.1392+3G>C p.? Unknown 1:107749459-107749459 - TCGA-BS-A0UV-01 COSM893324 c.1660G>T p.E554* Substitution - Nonsense 1:107704595-107704595 - 37P3 COSM3733849 c.283G>A p.E95K Substitution - Missense 1:107874939-107874939 - ZZUFHECRKL-G052T COSM2116689 c.205-6C>A p.? Unknown 1:107875023-107875023 - 2175 COSM5010580 c.772A>C p.N258H Substitution - Missense 1:107766496-107766496 - CHC1079T COSM4791114 c.1839A>T p.E613D Substitution - Missense 1:107642694-107642694 - 3006_T COSM3975808 c.622A>G p.T208A Substitution - Missense 1:107770662-107770662 - TCGA-FS-A1ZP-06 COSM3470676 c.948G>A p.G316G Substitution - coding silent 1:107760853-107760853 - RMS77_ COSM4416270 c.1846C>T p.P616S Substitution - Missense 1:107642687-107642687 - ZZUFHECRKL-G014T COSM5437412 c.1732-9A>G p.? Unknown 1:107683542-107683542 - J76_T COSM3975807 c.921+4C>A p.? Unknown 1:107765072-107765072 - BD96T COSM5520583 c.2247T>C p.H749H Substitution - coding silent 1:107596315-107596315 - RMS110_ COSM146568 c.1854G>C p.Q618H Substitution - Missense 1:107642679-107642679 - HCT116 COSM1667765 c.2510G>A p.W837* Substitution - Nonsense 1:107573365-107573365 - TCGA-HF-7132-01 COSM4020192 c.555+1G>A p.? Unknown 1:107772734-107772734 - HCC1143 COSM28322 c.1153C>T p.Q385* Substitution - Nonsense 1:107755447-107755447 - PT08_1 COSM227680 c.578G>A p.R193Q Substitution - Missense 1:107770706-107770706 - YULLON COSM1332289 c.349C>T p.R117* Substitution - Nonsense 1:107779465-107779465 - SCMC_RM2_ COSM146568 c.1854G>C p.Q618H Substitution - Missense 1:107642679-107642679 - KPOPBR-31-T COSM5963945 c.1706-3C>T p.? Unknown 1:107688409-107688409 - Pat_41_B COSM5842948 c.1693G>A p.V565I Substitution - Missense 1:107704562-107704562 - TCGA-AA-A010-01 COSM286432 c.208C>A p.L70I Substitution - Missense 1:107875014-107875014 - TCGA-DA-A3F8-06 COSM1688196 c.1702G>A p.G568S Substitution - Missense 1:107704553-107704553 - RK029_C COSM1626277 c.386T>C p.F129S Substitution - Missense 1:107777291-107777291 - YUGAFFE COSM1688196 c.1702G>A p.G568S Substitution - Missense 1:107704553-107704553 - TCGA-D1-A103-01 COSM893320 c.2113G>A p.E705K Substitution - Missense 1:107603066-107603066 - TCGA-BK-A0C9-01 COSM893321 c.1983G>A p.V661V Substitution - coding silent 1:107609963-107609963 - 169 COSM3728824 c.1086+5G>T p.? Unknown 1:107757256-107757256 - LUAD-CHTN-MAD06-00668 COSM358178 c.1044G>A p.P348P Substitution - coding silent 1:107757303-107757303 - TCGA-B5-A11E-01 COSM893328 c.1462G>T p.D488Y Substitution - Missense 1:107749008-107749008 - KM12 COSM2116610 c.2414G>T p.R805I Substitution - Missense 1:107574135-107574135 - TCGA-FU-A40J-01 COSM4844066 c.2437G>C p.D813H Substitution - Missense 1:107574112-107574112 - TCGA-24-1567-01 COSM118946 c.1086+1G>C p.? Unknown 1:107757260-107757260 - 587376 COSM1232210 c.13A>G p.K5E Substitution - Missense 1:107964857-107964857 - TCGA-CD-5800-01 COSM4020185 c.1984C>T p.P662S Substitution - Missense 1:107609962-107609962 - TCGA-24-1847-01 COSM1320186 c.308G>T p.R103L Substitution - Missense 1:107874914-107874914 - BCM545T COSM4802764 c.2503G>A p.V835M Substitution - Missense 1:107573372-107573372 - TCGA-G4-6304-01 COSM1332288 c.590T>C p.L197P Substitution - Missense 1:107770694-107770694 - TCGA-16-0861-01 COSM3399511 c.304G>T p.V102F Substitution - Missense 1:107874918-107874918 - LUAD-F00257 COSM366899 c.1766A>T p.Q589L Substitution - Missense 1:107683499-107683499 - RKO COSM2116678 c.761A>G p.D254G Substitution - Missense 1:107766507-107766507 - 16953 COSM48841 c.1852C>G p.Q618E Substitution - Missense 1:107642681-107642681 - HX13T COSM1600470 c.1750C>T p.R584* Substitution - Nonsense 1:107683515-107683515 - TCGA-B0-4712-01 COSM462522 c.708C>G p.I236M Substitution - Missense 1:107768450-107768450 - RMS66_ COSM146568 c.1854G>C p.Q618H Substitution - Missense 1:107642679-107642679 - HCC4 COSM1600470 c.1750C>T p.R584* Substitution - Nonsense 1:107683515-107683515 - SA106 COSM212127 c.1150T>C p.F384L Substitution - Missense 1:107755450-107755450 - LUAD-RT-S01703 COSM379534 c.1350C>A p.Y450* Substitution - Nonsense 1:107749504-107749504 - HCC161 COSM3704788 c.142A>G p.N48D Substitution - Missense 1:107964728-107964728 - C086 COSM5541536 c.1270T>C p.L424L Substitution - coding silent 1:107749584-107749584 - S02287 COSM5685532 c.1983G>T p.V661V Substitution - coding silent 1:107609963-107609963 - LUAD-D01278 COSM362832 c.1481T>A p.L494Q Substitution - Missense 1:107748989-107748989 - TCGA-CM-6171-01 COSM1332291 c.8C>T p.P3L Substitution - Missense 1:107964862-107964862 - Au10 COSM5598930 c.493G>A p.G165R Substitution - Missense 1:107772797-107772797 - PD8978a COSM5792327 c.2194G>C p.E732Q Substitution - Missense 1:107602423-107602423 - SNUH_G73_S1 COSM4416270 c.1846C>T p.P616S Substitution - Missense 1:107642687-107642687 - TCGA-D7-8572-01 COSM4020183 c.2112A>G p.G704G Substitution - coding silent 1:107603067-107603067 - 53M COSM1720960 c.1309G>A p.D437N Substitution - Missense 1:107749545-107749545 - TCGA-AA-A010-01 COSM286431 c.1956T>G p.S652R Substitution - Missense 1:107617591-107617591 - 578 COSM3724129 c.2487A>T p.G829G Substitution - coding silent 1:107574062-107574062 - 417 COSM2116672 c.962G>A p.R321Q Substitution - Missense 1:107760839-107760839 - STC263 COSM5052348 c.2077A>T p.T693S Substitution - Missense 1:107603102-107603102 - Au1 COSM5597868 c.2533G>A p.E845K Substitution - Missense 1:107573342-107573342 - LUAD-E00918 COSM364899 c.2464A>C p.S822R Substitution - Missense 1:107574085-107574085 - SCMC_RM2_ COSM4416270 c.1846C>T p.P616S Substitution - Missense 1:107642687-107642687 - PT19_2 COSM5943356 c.1915-7delT p.? Unknown 1:107617639-107617639 - LUAD-LIP77 COSM342300 c.1970C>T p.P657L Substitution - Missense 1:107617577-107617577 - HCC29 COSM1600472 c.22G>A p.A8T Substitution - Missense 1:107964848-107964848 - TCGA-CH-5750-01 COSM1127503 c.1524T>C p.Y508Y Substitution - coding silent 1:107705040-107705040 - CRC-19T COSM5480804 c.322-2A>C p.? Unknown 1:107779494-107779494 - TCGA-B0-5702-01 COSM462523 c.555+2T>C p.? Unknown 1:107772733-107772733 - PCSI_0284_Pa_P_526 COSM4964441 c.2006G>T p.C669F Substitution - Missense 1:107609940-107609940 - TCGA-BR-6802-01 COSM4020194 c.221A>G p.N74S Substitution - Missense 1:107875001-107875001 - 587316 COSM1232206 c.1688G>A p.G563D Substitution - Missense 1:107704567-107704567 - TCGA-CH-5768-01 COSM1127501 c.910C>T p.L304L Substitution - coding silent 1:107765087-107765087 - LUAD-S01373 COSM388112 c.175G>T p.E59* Substitution - Nonsense 1:107964695-107964695 - TCGA-EJ-7125-01 COSM527276 c.555C>A p.P185P Substitution - coding silent 1:107772735-107772735 - SNUH_G73_S1 COSM146568 c.1854G>C p.Q618H Substitution - Missense 1:107642679-107642679 - 587286 COSM1232205 c.239C>T p.T80M Substitution - Missense 1:107874983-107874983 - 01-P8014 COSM4576070 c.196A>T p.M66L Substitution - Missense 1:107964674-107964674 - BD152T COSM5506747 c.2047G>C p.E683Q Substitution - Missense 1:107603132-107603132 - TCGA-BR-7707-01 COSM4020193 c.276A>C p.E92D Substitution - Missense 1:107874946-107874946 - DLD1 COSM2116618 c.2317G>A p.A773T Substitution - Missense 1:107596245-107596245 - RMS77_ COSM146568 c.1854G>C p.Q618H Substitution - Missense 1:107642679-107642679 - TCGA-D1-A17Q-01 COSM893334 c.475C>T p.L159F Substitution - Missense 1:107772815-107772815 - CHC1079T COSM4791114 c.1839A>T p.E613D Substitution - Missense 1:107642694-107642694 - J13_T COSM3975805 c.1503-5T>C p.? Unknown 1:107705066-107705066 - T3724 COSM4740211 c.496_497insG p.E166fs*3 Insertion - Frameshift 1:107772793-107772794 - TCGA-BR-4370-01 COSM4020179 c.2387G>A p.R796Q Substitution - Missense 1:107574162-107574162 - BCM439T COSM4951881 c.1136G>A p.R379H Substitution - Missense 1:107755464-107755464 - QGP1 COSM2116674 c.956C>T p.T319I Substitution - Missense 1:107760845-107760845 - U87 COSM2116676 c.845G>A p.C282Y Substitution - Missense 1:107765152-107765152 - YUHEF COSM1688198 c.760G>A p.D254N Substitution - Missense 1:107766508-107766508 - HCC29T COSM1600472 c.22G>A p.A8T Substitution - Missense 1:107964848-107964848 - LUAD-RT-S01477 COSM377359 c.2108C>T p.S703L Substitution - Missense 1:107603071-107603071 - RK027_C01 COSM1626274 c.2002T>C p.S668P Substitution - Missense 1:107609944-107609944 - TCGA-G3-A3CK-01 COSM4922518 c.357T>A p.P119P Substitution - coding silent 1:107779457-107779457 - T1154 COSM4740210 c.685G>A p.A229T Substitution - Missense 1:107768473-107768473 - 17210 COSM48840 c.2519C>A p.S840Y Substitution - Missense 1:107573356-107573356 - PT08_2 COSM227680 c.578G>A p.R193Q Substitution - Missense 1:107770706-107770706 - GC4_T COSM146568 c.1854G>C p.Q618H Substitution - Missense 1:107642679-107642679 - RMS66_ COSM4416270 c.1846C>T p.P616S Substitution - Missense 1:107642687-107642687 - PD13752a COSM5801401 c.1032_1033insA p.T345fs*3 Insertion - Frameshift 1:107757314-107757315 - TCGA-BT-A20P-01 COSM414205 c.2075G>T p.S692I Substitution - Missense 1:107603104-107603104 - ESCC_44 COSM4620281 c.1135C>T p.R379C Substitution - Missense 1:107755465-107755465 - TCGA-CH-5739-01 COSM3671329 c.1845C>A p.P615P Substitution - coding silent 1:107642688-107642688 - 1_PRE-TREATMENT COSM1720960 c.1309G>A p.D437N Substitution - Missense 1:107749545-107749545 - TCGA-BR-8591-01 COSM4020177 c.2540A>G p.E847G Substitution - Missense 1:107573335-107573335 - TCGA-CA-6718-01 COSM1332283 c.1447T>A p.Y483N Substitution - Missense 1:107749023-107749023 - HCC1143 COSM28322 c.1153C>T p.Q385* Substitution - Nonsense 1:107755447-107755447 - TCGA-AP-A0LP-01 COSM227680 c.578G>A p.R193Q Substitution - Missense 1:107770706-107770706 - RK262_C01 COSM4778779 c.2227G>T p.V743L Substitution - Missense 1:107596335-107596335 - 587284 COSM1232209 c.31C>T p.L11F Substitution - Missense 1:107964839-107964839 - PD4845a COSM5781510 c.777A>G p.K259K Substitution - coding silent 1:107766491-107766491 - LUAD-B02077 COSM335087 c.2224C>G p.L742V Substitution - Missense 1:107596338-107596338 - TCGA-DD-A4NG-01 COSM4926067 c.2437G>T p.D813Y Substitution - Missense 1:107574112-107574112 - TCGA-23-1120-01 COSM82443 c.1122T>C p.D374D Substitution - coding silent 1:107755478-107755478 - HCC168 COSM3704789 c.30G>T p.W10C Substitution - Missense 1:107964840-107964840 - T3011 COSM4740207 c.1760C>A p.P587H Substitution - Missense 1:107683505-107683505 - TCGA-BH-A0HP-01 COSM423367 c.935G>C p.R312T Substitution - Missense 1:107760866-107760866 - 587350 COSM200761 c.155C>T p.A52V Substitution - Missense 1:107964715-107964715 - RK029_C01 COSM1626277 c.386T>C p.F129S Substitution - Missense 1:107777291-107777291 - TCGA-EE-A3JA-06 COSM3470675 c.979C>T p.P327S Substitution - Missense 1:107760822-107760822 - TCGA-A5-A0GP-01 COSM893331 c.1263T>C p.H421H Substitution - coding silent 1:107749591-107749591 - HCC006T COSM5803368 c.2221-3A>G p.? Unknown 1:107596344-107596344 - TCGA-A2-A3XV-01 COSM3801126 c.1777+1G>T p.? Unknown 1:107683487-107683487 - TCGA-CG-4305-01 COSM4020190 c.837G>A p.G279G Substitution - coding silent 1:107765160-107765160 - PD8969a COSM4020192 c.555+1G>A p.? Unknown 1:107772734-107772734 - PET020T COSM5825598 c.208C>T p.L70F Substitution - Missense 1:107875014-107875014 - CSCC-38-T COSM4450610 c.718-1G>A p.? Unknown 1:107766551-107766551 - ESOSCC155T COSM1172004 c.277C>A p.L93I Substitution - Missense 1:107874945-107874945 - C086 COSM5541535 c.1577C>T p.S526F Substitution - Missense 1:107704987-107704987 - TCGA-ET-A3BQ-01 COSM3369171 c.1374C>T p.T458T Substitution - coding silent 1:107749480-107749480 - BCB307T COSM4950130 c.1173G>C p.L391F Substitution - Missense 1:107755427-107755427 - TCGA-EE-A2MM-06 COSM3470674 c.1199G>A p.R400Q Substitution - Missense 1:107751177-107751177 - TCGA-AA-3672-01 COSM267745 c.362C>T p.A121V Substitution - Missense 1:107779452-107779452 - 6115242 COSM5552863 c.450A>G p.E150E Substitution - coding silent 1:107772840-107772840 - ESCC-237T COSM3933986 c.433C>G p.P145A Substitution - Missense 1:107777244-107777244 - TCGA-GN-A266-06 COSM3470678 c.571G>A p.D191N Substitution - Missense 1:107770713-107770713 - 113805 COSM96281 c.660A>G p.A220A Substitution - coding silent 1:107768498-107768498 - T3088 COSM358178 c.1044G>A p.P348P Substitution - coding silent 1:107757303-107757303 - RK107_C01 COSM1626278 c.218A>G p.K73R Substitution - Missense 1:107875004-107875004 - RK135_C01 COSM3740514 c.223A>T p.I75L Substitution - Missense 1:107874999-107874999 - PD4844a COSM165475 c.1545C>T p.D515D Substitution - coding silent 1:107705019-107705019 - TCGA-DK-A3IU-01 COSM3788363 c.250G>A p.E84K Substitution - Missense 1:107874972-107874972 - J76_T COSM3975806 c.921+5C>G p.? Unknown 1:107765071-107765071 - EGC15 COSM2116686 c.308G>A p.R103H Substitution - Missense 1:107874914-107874914 - SNUH_G10_S1 COSM3676659 c.718-10C>T p.? Unknown 1:107766560-107766560 - PT19_1 COSM5943356 c.1915-7delT p.? Unknown 1:107617639-107617639 - WSU-HN13 COSM1497413 c.587G>C p.C196S Substitution - Missense 1:107770697-107770697 - TCGA-BR-8372-01 COSM4020181 c.2382C>T p.I794I Substitution - coding silent 1:107574167-107574167 - TCGA-24-2298-01 COSM73247 c.113G>C p.R38P Substitution - Missense 1:107964757-107964757 - CoCM-1 COSM4620902 c.2220G>C p.M740I Substitution - Missense 1:107602397-107602397 - TCGA-EE-A2GC-06 COSM3470672 c.2026G>A p.A676T Substitution - Missense 1:107603153-107603153 - TCGA-AA-3492-01 COSM3685909 c.1503-3delT p.? Unknown 1:107705064-107705064 - TCGA-EI-6917-01 COSM3417817 c.229A>G p.T77A Substitution - Missense 1:107874993-107874993 - TCGA-G4-6321-01 COSM1332277 c.1974C>A p.C658* Substitution - Nonsense 1:107617573-107617573 - TCGA-DA-A1HV-06 COSM2116662 c.1290C>T p.I430I Substitution - coding silent 1:107749564-107749564 - TCGA-AA-A010-01 COSM200725 c.2053G>A p.E685K Substitution - Missense 1:107603126-107603126 - 1 COSM4020181 c.2382C>T p.I794I Substitution - coding silent 1:107574167-107574167 - LUAD-S01478 COSM404654 c.716C>A p.P239H Substitution - Missense 1:107768442-107768442 - BD111T COSM5520776 c.1098A>G p.Q366Q Substitution - coding silent 1:107755502-107755502 - ESO-105 COSM1270163 c.1864G>A p.G622R Substitution - Missense 1:107642669-107642669 - CSCC-40-T COSM4568897 c.1398T>C p.S466S Substitution - coding silent 1:107749072-107749072 - TCGA-G3-A7M5-01 COSM4941974 c.1999T>A p.Y667N Substitution - Missense 1:107609947-107609947 - TCGA-AA-A00N-01 COSM298866 c.1794G>A p.Q598Q Substitution - coding silent 1:107642739-107642739 - TCGA-D8-A1XZ-01 COSM1472362 c.175_177delGAG p.E59delE Deletion - In frame 1:107964693-107964695 - 2493722 COSM2116671 c.1037C>T p.T346I Substitution - Missense 1:107757310-107757310 - TCGA-AX-A0J0-01 COSM893325 c.1651G>A p.A551T Substitution - Missense 1:107704604-107704604 - YURIF COSM1688197 c.1222C>T p.R408* Substitution - Nonsense 1:107751154-107751154 - TCGA-D3-A3ML-06 COSM3470677 c.676C>T p.L226L Substitution - coding silent 1:107768482-107768482 - TCGA-B5-A0JV-01 COSM893319 c.2377G>A p.A793T Substitution - Missense 1:107574172-107574172 - TCGA-E2-A1LG-01 COSM1472361 c.1048G>C p.E350Q Substitution - Missense 1:107757299-107757299 - TCGA-F5-6814-01 COSM3417816 c.1499C>T p.A500V Substitution - Missense 1:107748971-107748971 - TCGA-CG-5728-01 COSM4020189 c.988C>T p.R330C Substitution - Missense 1:107760813-107760813 - TCGA-FU-A3HY-01 COSM4838521 c.466G>A p.E156K Substitution - Missense 1:107772824-107772824 - TCGA-CD-5803-01 COSM4020187 c.1642G>A p.G548R Substitution - Missense 1:107704613-107704613 - TCGA-BR-8680-01 COSM4020188 c.1150T>G p.F384V Substitution - Missense 1:107755450-107755450 - STC246 COSM5052350 c.417C>T p.D139D Substitution - coding silent 1:107777260-107777260 - ESO-160 COSM1270165 c.849T>A p.S283R Substitution - Missense 1:107765148-107765148 - TCGA-FW-A3R5-06 COSM227680 c.578G>A p.R193Q Substitution - Missense 1:107770706-107770706 - ccRCC-59 COSM1659709 c.625G>C p.E209Q Substitution - Missense 1:107770659-107770659 - 37P2 COSM3733849 c.283G>A p.E95K Substitution - Missense 1:107874939-107874939 - TCGA-D9-A6EC-06 COSM4404982 c.733C>T p.H245Y Substitution - Missense 1:107766535-107766535 - TCGA-AO-A1KR-01 COSM1472360 c.1272A>C p.L424F Substitution - Missense 1:107749582-107749582 - TCGA-D5-6540-01 COSM1332281 c.1632T>G p.C544W Substitution - Missense 1:107704623-107704623 - 12924 COSM5616632 c.876A>G p.L292L Substitution - coding silent 1:107765121-107765121 - LUAD-E00934 COSM393397 c.2082C>A p.Y694* Substitution - Nonsense 1:107603097-107603097 - HCC161T COSM3704788 c.142A>G p.N48D Substitution - Missense 1:107964728-107964728 - H358 COSM1193992 c.1862C>A p.A621D Substitution - Missense 1:107642671-107642671 - 1_RESISTANT COSM1720960 c.1309G>A p.D437N Substitution - Missense 1:107749545-107749545 - BCM439T COSM4951881 c.1136G>A p.R379H Substitution - Missense 1:107755464-107755464 - 026T COSM1728066 c.552G>T p.Q184H Substitution - Missense 1:107772738-107772738 - PCSI_0057_Pa_X COSM3376633 c.1604+6C>A p.? Unknown 1:107704954-107704954 - TCGA-BS-A0UF-01 COSM893327 c.1469A>C p.K490T Substitution - Missense 1:107749001-107749001 - HCT-116 COSM1667765 c.2510G>A p.W837* Substitution - Nonsense 1:107573365-107573365 - TCGA-CG-5721-01 COSM4020195 c.126G>A p.L42L Substitution - coding silent 1:107964744-107964744 - 2334196 COSM324238 c.1524T>G p.Y508* Substitution - Nonsense 1:107705040-107705040 - CSCC-49-T COSM4523265 c.1206G>A p.Q402Q Substitution - coding silent 1:107751170-107751170 - 1N25-VS-1T25 COSM4973321 c.1129A>T p.T377S Substitution - Missense 1:107755471-107755471 - BCM545T COSM4802764 c.2503G>A p.V835M Substitution - Missense 1:107573372-107573372 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.267659 1p13.3 605541

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - InFrameDeletion p.F423delF c.1269_1271delCTT 1 108292205 UCEC A C Missense p.I75R c.224T>G 1 108417620 PRAD A C Nonsense p.L758* c.2273T>G 1 108138911 BRCA A C Nonsense p.Y508* c.1524T>G 1 108247662 SCLC A G IntronicSNV . c.205-1163T>C 1 108418802 CLL A G IntronicSNV . c.322-6025T>C 1 108328139 CM A G Missense p.F384L c.1150T>C 1 108298072 BRCA A G Missense p.L424S c.1271T>C 1 108292205 HC A G Missense p.S668P c.2002T>C 1 108152566 HC A G Missense p.W10R c.28T>C 1 108507464 STAD A G Synonymous p.C555C c.1665T>C 1 108247212 UCEC A G Synonymous p.D374D c.1122T>C 1 108298100 OV A G Synonymous p.H421H c.1263T>C 1 108292213 UCEC A G Synonymous p.Y508Y c.1524T>C 1 108247662 PRAD A T IntronicSNV . c.1778-3989T>A 1 108189366 CLL A T Missense p.S283R c.849T>A 1 108307770 ESCA A T Nonsense p.C309* c.927T>A 1 108303496 LUAD C A Missense p.A357S c.1069G>T 1 108299900 LUAD C A Missense p.G403V c.1208G>T 1 108293790 NSCLC C A Missense p.G622V c.1865G>T 1 108185290 LUAD C A Missense p.L275F c.825G>T 1 108307794 LUAD C A Missense p.S692I c.2075G>T 1 108145726 BLCA C A Missense p.V102F c.304G>T 1 108417540 GBM C A Nonsense p.E205* c.613G>T 1 108313293 OV C A SpliceDonorSNV . c.921+1G>T 1 108307697 LUAD C G IntronicSNV . c.1502+19299G>C 1 108272291 CLL C G Missense p.E350Q c.1048G>C 1 108299921 BRCA C G Missense p.E481Q c.1441G>C 1 108291651 BRCA C G Missense p.R312T c.935G>C 1 108303488 BRCA C G Missense p.R38P c.113G>C 1 108507379 OV C G SpliceDonorSNV . c.1086+1G>C 1 108299882 OV CTC - InFrameDeletion p.E59delE c.175_177delGAG 1 108507315 BRCA C T IntronicSNV . c.2351-100G>A 1 108116920 CM C T Missense p.A288T c.862G>A 1 108307757 LUAD C T Missense p.A676T c.2026G>A 1 108145775 CM C T Missense p.D167N c.499G>A 1 108315413 CM C T Missense p.E133K c.397G>A 1 108319902 CM C T Missense p.E84K c.250G>A 1 108417594 BLCA C T Missense p.G548R c.1642G>A 1 108247235 STAD C T Missense p.G568S c.1702G>A 1 108247175 CM C T Missense p.G571R c.1711G>A 1 108231023 COREAD C T Missense p.G622R c.1864G>A 1 108185291 ESCA C T Missense p.R193Q c.578G>A 1 108313328 CM C T Missense p.R193Q c.578G>A 1 108313328 UCEC C T Missense p.R400Q c.1199G>A 1 108293799 CM C T Missense p.R408Q c.1223G>A 1 108293775 COREAD C T Missense p.R579Q c.1736G>A 1 108226151 CM C T Nonsense p.Q385* c.1153C>T 1 108298069 BRCA C T SpliceAcceptorSNV . c.1981-1G>A 1 108152588 LUAD C T Synonymous p.E2E c.6G>A 1 108507486 LUAD C T Synonymous p.G279G c.837G>A 1 108307782 STAD C T Synonymous p.G316G c.948G>A 1 108303475 CM C T Synonymous p.K297K c.891G>A 1 108307728 HNSC C T Synonymous p.Q9Q c.27G>A 1 108507465 COREAD C T Synonymous p.R89R c.267G>A 1 108417577 CM C T Synonymous p.T85T c.255G>A 1 108417589 CM C T Synonymous p.V23V c.69G>A 1 108507423 NB C T Synonymous p.V661V c.1983G>A 1 108152585 UCEC G A IntronicSNV . c.1777+11248C>T 1 108214862 HC G A IntronicSNV . c.204+28912C>T 1 108478376 CLL G A IntronicSNV . c.718-160C>T 1 108309332 NSCLC G A Missense p.A549V c.1646C>T 1 108247231 HNSC G A Missense p.H245Y c.733C>T 1 108309157 CM G A Missense p.L79F c.235C>T 1 108417609 CM G A Missense p.P327S c.979C>T 1 108303444 CM G A Missense p.P662S c.1984C>T 1 108152584 STAD G A Missense p.R330C c.988C>T 1 108303435 STAD G A Synonymous p.D515D c.1545C>T 1 108247641 BRCA G A Synonymous p.I430I c.1290C>T 1 108292186 CM G A Synonymous p.L226L c.676C>T 1 108311104 CM G A Synonymous p.L304L c.910C>T 1 108307709 PRAD G A Synonymous p.L533L c.1599C>T 1 108247587 LUAD G A Synonymous p.P615P c.1845C>T 1 108185310 CM G A Synonymous p.T458T c.1374C>T 1 108292102 THCA G A Synonymous p.Y278Y c.834C>T 1 108307785 STAD GCC - 5-UTRDeletion . c.1-53_1-51delGGC 1 108507542 PRAD G C Missense p.L159V c.475C>G 1 108315437 LUAD G C Missense p.P608R c.1823C>G 1 108185332 LUAD G C Missense p.Q618E c.1852C>G 1 108185303 LUAD G C Synonymous p.A621A c.1863C>G 1 108185292 LUAD G T 3-UTRSNV . c.2541+1001C>A 1 108114955 HC G T Missense p.P185H c.554C>A 1 108315358 LUAD G T Missense p.P609T c.1825C>A 1 108185330 LUAD G T Missense p.Q262K c.784C>A 1 108309106 LUAD G T Missense p.S840Y c.2519C>A 1 108115978 LUAD G T Synonymous p.G781G c.2343C>A 1 108138841 LUAD G T Synonymous p.T684T c.2052C>A 1 108145749 STAD T A IntronicSNV . c.1777+16026A>T 1 108210084 CLL T A SpliceAcceptorSNV . c.922-2A>T 1 108303503 LUAD T A Synonymous p.G829G c.2487A>T 1 108116684 HNSC T C IntronicSNV . c.2350+9999A>G 1 108128835 CLL T C Missense p.K73R c.218A>G 1 108417626 HC T C Missense p.N74S c.221A>G 1 108417623 STAD T C Synonymous p.L292L c.876A>G 1 108307743 NSCLC T C Synonymous p.R224R c.672A>G 1 108311108 OV - T Frameshift p.R679Kfs*10 c.2035dupA 1 108145766 LUSC T G 3-UTRSNV . c.2541+1611A>C 1 108114345 HC T G Missense p.L424F c.1272A>C 1 108292204 BRCA T - IntronicDeletion . c.1174-114delA 1 108293938 ESCA TTCTTCT - IntronicDeletion . c.2015+3128_2015+3134delGAAGAAA 1 108149420 CLL