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 12 41966628 41966628 + Missense_Mutation SNP A A G TCGA-OR-A5JX-01A-11D-A29I-10 TCGA-OR-A5JX-10B-01D-A29L-10 g.chr12:41966628A>G c.2047A>G c.(2047-2049)Atc>Gtc p.I683V BLCA 12 41582333 41582333 + Missense_Mutation SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr12:41582333G>A c.76G>A c.(76-78)Gaa>Aaa p.E26K BLCA 12 41585313 41585313 + Silent SNP G G A TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr12:41585313G>A c.702G>A c.(700-702)ttG>ttA p.L234L BLCA 12 41587902 41587902 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr12:41587902C>T c.755C>T c.(754-756)tCg>tTg p.S252L BLCA 12 41900508 41900508 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr12:41900508C>T c.1094C>T c.(1093-1095)tCa>tTa p.S365L BLCA 12 41961591 41961591 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr12:41961591G>A c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K BLCA 12 41966385 41966385 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr12:41966385T>C c.1804T>C c.(1804-1806)Tac>Cac p.Y602H BLCA 12 41966399 41966399 + Silent SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr12:41966399C>G c.1818C>G c.(1816-1818)ctC>ctG p.L606L BLCA 12 41966494 41966494 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr12:41966494G>A c.1913G>A c.(1912-1914)cGa>cAa p.R638Q BLCA 12 41966808 41966808 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr12:41966808G>A c.2227G>A c.(2227-2229)Gag>Aag p.E743K BLCA 12 41966808 41966808 + Missense_Mutation SNP G G C TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr12:41966808G>C c.2227G>C c.(2227-2229)Gag>Cag p.E743Q BLCA 12 41966991 41966991 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr12:41966991G>A c.2410G>A c.(2410-2412)Gct>Act p.A804T BLCA 12 41967307 41967307 + Missense_Mutation SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr12:41967307G>A c.2726G>A c.(2725-2727)cGa>cAa p.R909Q BLCA 12 41967407 41967407 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr12:41967407C>T c.2826C>T c.(2824-2826)agC>agT p.S942S BLCA 12 41967486 41967486 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr12:41967486G>A c.2905G>A c.(2905-2907)Gag>Aag p.E969K BLCA 12 41967536 41967536 + Silent SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr12:41967536C>T c.2955C>T c.(2953-2955)atC>atT p.I985I BRCA 12 41961629 41961629 + Silent SNP G G A TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr12:41961629G>A c.1512G>A c.(1510-1512)gaG>gaA p.E504E BRCA 12 41961642 41961642 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 g.chr12:41961642G>A c.1525G>A c.(1525-1527)Gag>Aag p.E509K BRCA 12 41966376 41966376 + Missense_Mutation SNP G G A TCGA-EW-A1OV-01A-11D-A142-09 TCGA-EW-A1OV-10A-01D-A142-09 g.chr12:41966376G>A c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K BRCA 12 41966546 41966546 + Missense_Mutation SNP T T A TCGA-E9-A295-01A-11D-A16D-09 TCGA-E9-A295-10A-01D-A16D-09 g.chr12:41966546T>A c.1965T>A c.(1963-1965)aaT>aaA p.N655K BRCA 12 41967119 41967119 + Silent SNP C C T TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 g.chr12:41967119C>T c.2538C>T c.(2536-2538)caC>caT p.H846H BRCA 12 41967163 41967163 + Missense_Mutation SNP C C A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 g.chr12:41967163C>A c.2582C>A c.(2581-2583)tCt>tAt p.S861Y BRCA 12 41967239 41967239 + Silent SNP G G A TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr12:41967239G>A c.2658G>A c.(2656-2658)aaG>aaA p.K886K BRCA 12 41967406 41967406 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:41967406G>T c.2825G>T c.(2824-2826)aGc>aTc p.S942I CESC 12 41582515 41582515 + Silent SNP C C T TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 g.chr12:41582515C>T c.258C>T c.(256-258)cgC>cgT p.R86R CESC 12 41961654 41961654 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr12:41961654G>A c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K CESC 12 41966808 41966808 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr12:41966808G>A c.2227G>A c.(2227-2229)Gag>Aag p.E743K CESC 12 41966994 41966994 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:41966994G>A c.2413G>A c.(2413-2415)Gaa>Aaa p.E805K CESC 12 41967170 41967170 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 g.chr12:41967170C>T c.2589C>T c.(2587-2589)gtC>gtT p.V863V COAD 12 41831759 41831759 + Intron SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:41831759T>G COAD 12 41900435 41900435 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:41900435G>A c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K COAD 12 41946464 41946464 + Missense_Mutation SNP G G C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr12:41946464G>C c.1210G>C c.(1210-1212)Gag>Cag p.E404Q COAD 12 41949501 41949501 + Splice_Site SNP T T G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:41949501T>G c.1304T>G c.(1303-1305)gTt>gGt p.V435G COAD 12 41949529 41949529 + Silent SNP C C T TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr12:41949529C>T c.1332C>T c.(1330-1332)gaC>gaT p.D444D COAD 12 41957374 41957374 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:41957374C>T c.1390C>T c.(1390-1392)Cga>Tga p.R464* COAD 12 41957403 41957403 + Silent SNP C C T TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr12:41957403C>T c.1419C>T c.(1417-1419)aaC>aaT p.N473N COAD 12 41961603 41961603 + Missense_Mutation SNP G G C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr12:41961603G>C c.1486G>C c.(1486-1488)Gaa>Caa p.E496Q COAD 12 41961644 41961644 + Missense_Mutation SNP G G T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr12:41961644G>T c.1527G>T c.(1525-1527)gaG>gaT p.E509D COAD 12 41961654 41961654 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:41961654G>T c.1537G>T c.(1537-1539)Gaa>Taa p.E513* COAD 12 41961694 41961694 + Missense_Mutation SNP T T C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr12:41961694T>C c.1577T>C c.(1576-1578)gTg>gCg p.V526A COAD 12 41966236 41966236 + Missense_Mutation SNP A A G TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr12:41966236A>G c.1655A>G c.(1654-1656)gAc>gGc p.D552G COAD 12 41966259 41966259 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:41966259G>T c.1678G>T c.(1678-1680)Gaa>Taa p.E560* COAD 12 41966268 41966268 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:41966268C>T c.1687C>T c.(1687-1689)Cga>Tga p.R563* COAD 12 41966269 41966269 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:41966269G>A c.1688G>A c.(1687-1689)cGa>cAa p.R563Q COAD 12 41966269 41966269 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:41966269G>A c.1688G>A c.(1687-1689)cGa>cAa p.R563Q COAD 12 41966383 41966383 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:41966383A>G c.1802A>G c.(1801-1803)cAg>cGg p.Q601R COAD 12 41966450 41966450 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:41966450C>A c.1869C>A c.(1867-1869)gaC>gaA p.D623E COAD 12 41966459 41966459 + Silent SNP A A G TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr12:41966459A>G c.1878A>G c.(1876-1878)agA>agG p.R626R COAD 12 41966487 41966487 + Missense_Mutation SNP A A G TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr12:41966487A>G c.1906A>G c.(1906-1908)Aag>Gag p.K636E COAD 12 41966488 41966488 + Missense_Mutation SNP A A G TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr12:41966488A>G c.1907A>G c.(1906-1908)aAg>aGg p.K636R COAD 12 41966490 41966490 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:41966490A>G c.1909A>G c.(1909-1911)Att>Gtt p.I637V COAD 12 41966554 41966554 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:41966554A>G c.1973A>G c.(1972-1974)gAg>gGg p.E658G COAD 12 41966808 41966808 + Missense_Mutation SNP G G A TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr12:41966808G>A c.2227G>A c.(2227-2229)Gag>Aag p.E743K COAD 12 41966886 41966886 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:41966886A>G c.2305A>G c.(2305-2307)Aag>Gag p.K769E COAD 12 41967022 41967022 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:41967022G>T c.2441G>T c.(2440-2442)aGc>aTc p.S814I COAD 12 41967135 41967135 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:41967135A>C c.2554A>C c.(2554-2556)Agc>Cgc p.S852R COAD 12 41967139 41967139 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:41967139A>C c.2558A>C c.(2557-2559)tAc>tCc p.Y853S COAD 12 41967227 41967227 + Silent SNP T T C TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr12:41967227T>C c.2646T>C c.(2644-2646)tgT>tgC p.C882C COAD 12 41967296 41967296 + Silent SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr12:41967296C>T c.2715C>T c.(2713-2715)ccC>ccT p.P905P COAD 12 41967346 41967346 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr12:41967346G>A c.2765G>A c.(2764-2766)cGg>cAg p.R922Q COAD 12 41967381 41967381 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr12:41967381G>A c.2800G>A c.(2800-2802)Gag>Aag p.E934K COAD 12 41967381 41967381 + Missense_Mutation SNP G G A TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr12:41967381G>A c.2800G>A c.(2800-2802)Gag>Aag p.E934K COAD 12 41967397 41967397 + Missense_Mutation SNP G G A TCGA-AA-3684-01A-02W-0900-09 TCGA-AA-3684-10A-01W-0900-09 g.chr12:41967397G>A c.2816G>A c.(2815-2817)cGc>cAc p.R939H COAD 12 41967534 41967534 + Missense_Mutation SNP A A C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr12:41967534A>C c.2953A>C c.(2953-2955)Atc>Ctc p.I985L COAD 12 41967550 41967550 + Missense_Mutation SNP T T G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:41967550T>G c.2969T>G c.(2968-2970)cTg>cGg p.L990R COADREAD 12 41831759 41831759 + Intron SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:41831759T>G COADREAD 12 41900435 41900435 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:41900435G>A c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K COADREAD 12 41946464 41946464 + Missense_Mutation SNP G G C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr12:41946464G>C c.1210G>C c.(1210-1212)Gag>Cag p.E404Q COADREAD 12 41949501 41949501 + Splice_Site SNP T T G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:41949501T>G c.1304T>G c.(1303-1305)gTt>gGt p.V435G COADREAD 12 41949529 41949529 + Silent SNP C C T TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr12:41949529C>T c.1332C>T c.(1330-1332)gaC>gaT p.D444D COADREAD 12 41957374 41957374 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:41957374C>T c.1390C>T c.(1390-1392)Cga>Tga p.R464* COADREAD 12 41957403 41957403 + Silent SNP C C T TCGA-AA-3872-01A-01W-0995-10 TCGA-AA-3872-10A-01W-0995-10 g.chr12:41957403C>T c.1419C>T c.(1417-1419)aaC>aaT p.N473N COADREAD 12 41957421 41957421 + Silent SNP C C T TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr12:41957421C>T c.1437C>T c.(1435-1437)atC>atT p.I479I COADREAD 12 41961603 41961603 + Missense_Mutation SNP G G C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr12:41961603G>C c.1486G>C c.(1486-1488)Gaa>Caa p.E496Q COADREAD 12 41961644 41961644 + Missense_Mutation SNP G G T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr12:41961644G>T c.1527G>T c.(1525-1527)gaG>gaT p.E509D COADREAD 12 41961654 41961654 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:41961654G>T c.1537G>T c.(1537-1539)Gaa>Taa p.E513* COADREAD 12 41961694 41961694 + Missense_Mutation SNP T T C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr12:41961694T>C c.1577T>C c.(1576-1578)gTg>gCg p.V526A COADREAD 12 41966236 41966236 + Missense_Mutation SNP A A G TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr12:41966236A>G c.1655A>G c.(1654-1656)gAc>gGc p.D552G COADREAD 12 41966259 41966259 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:41966259G>T c.1678G>T c.(1678-1680)Gaa>Taa p.E560* COADREAD 12 41966268 41966268 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:41966268C>T c.1687C>T c.(1687-1689)Cga>Tga p.R563* COADREAD 12 41966269 41966269 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:41966269G>A c.1688G>A c.(1687-1689)cGa>cAa p.R563Q COADREAD 12 41966269 41966269 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:41966269G>A c.1688G>A c.(1687-1689)cGa>cAa p.R563Q COADREAD 12 41966383 41966383 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:41966383A>G c.1802A>G c.(1801-1803)cAg>cGg p.Q601R COADREAD 12 41966450 41966450 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:41966450C>A c.1869C>A c.(1867-1869)gaC>gaA p.D623E COADREAD 12 41966459 41966459 + Silent SNP A A G TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr12:41966459A>G c.1878A>G c.(1876-1878)agA>agG p.R626R COADREAD 12 41966487 41966487 + Missense_Mutation SNP A A G TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr12:41966487A>G c.1906A>G c.(1906-1908)Aag>Gag p.K636E COADREAD 12 41966488 41966488 + Missense_Mutation SNP A A G TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr12:41966488A>G c.1907A>G c.(1906-1908)aAg>aGg p.K636R COADREAD 12 41966490 41966490 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:41966490A>G c.1909A>G c.(1909-1911)Att>Gtt p.I637V COADREAD 12 41966505 41966505 + Nonsense_Mutation SNP G G T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:41966505G>T c.1924G>T c.(1924-1926)Gag>Tag p.E642* COADREAD 12 41966554 41966554 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:41966554A>G c.1973A>G c.(1972-1974)gAg>gGg p.E658G COADREAD 12 41966705 41966705 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:41966705G>A c.2124G>A c.(2122-2124)cgG>cgA p.R708R COADREAD 12 41966808 41966808 + Missense_Mutation SNP G G A TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr12:41966808G>A c.2227G>A c.(2227-2229)Gag>Aag p.E743K COADREAD 12 41966886 41966886 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:41966886A>G c.2305A>G c.(2305-2307)Aag>Gag p.K769E COADREAD 12 41967022 41967022 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:41967022G>T c.2441G>T c.(2440-2442)aGc>aTc p.S814I COADREAD 12 41967135 41967135 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:41967135A>C c.2554A>C c.(2554-2556)Agc>Cgc p.S852R COADREAD 12 41967139 41967139 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:41967139A>C c.2558A>C c.(2557-2559)tAc>tCc p.Y853S COADREAD 12 41967227 41967227 + Silent SNP T T C TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr12:41967227T>C c.2646T>C c.(2644-2646)tgT>tgC p.C882C COADREAD 12 41967296 41967296 + Silent SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr12:41967296C>T c.2715C>T c.(2713-2715)ccC>ccT p.P905P COADREAD 12 41967301 41967301 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:41967301G>A c.2720G>A c.(2719-2721)cGa>cAa p.R907Q COADREAD 12 41967346 41967346 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr12:41967346G>A c.2765G>A c.(2764-2766)cGg>cAg p.R922Q COADREAD 12 41967381 41967381 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr12:41967381G>A c.2800G>A c.(2800-2802)Gag>Aag p.E934K COADREAD 12 41967381 41967381 + Missense_Mutation SNP G G A TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr12:41967381G>A c.2800G>A c.(2800-2802)Gag>Aag p.E934K COADREAD 12 41967397 41967397 + Missense_Mutation SNP G G A TCGA-AA-3684-01A-02W-0900-09 TCGA-AA-3684-10A-01W-0900-09 g.chr12:41967397G>A c.2816G>A c.(2815-2817)cGc>cAc p.R939H COADREAD 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:41967475G>A c.2894G>A c.(2893-2895)cGa>cAa p.R965Q COADREAD 12 41967534 41967534 + Missense_Mutation SNP A A C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr12:41967534A>C c.2953A>C c.(2953-2955)Atc>Ctc p.I985L COADREAD 12 41967550 41967550 + Missense_Mutation SNP T T G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:41967550T>G c.2969T>G c.(2968-2970)cTg>cGg p.L990R DLBC 12 41966771 41966771 + Silent SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr12:41966771G>A c.2190G>A c.(2188-2190)aaG>aaA p.K730K ESCA 12 41585273 41585273 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr12:41585273A>C c.662A>C c.(661-663)aAg>aCg p.K221T ESCA 12 41831755 41831755 + Intron SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr12:41831755C>A ESCA 12 41903641 41903641 + Nonsense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr12:41903641G>T c.1129G>T c.(1129-1131)Gaa>Taa p.E377* ESCA 12 41957441 41957441 + Missense_Mutation SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr12:41957441C>T c.1457C>T c.(1456-1458)cCa>cTa p.P486L ESCA 12 41966630 41966630 + Silent SNP C C A TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr12:41966630C>A c.2049C>A c.(2047-2049)atC>atA p.I683I GBM 12 41967365 41967365 + Silent SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 g.chr12:41967365C>T c.2784C>T c.(2782-2784)gaC>gaT p.D928D GBM 12 41967460 41967460 + Missense_Mutation SNP G G A TCGA-12-3650-01A-01D-1495-08 TCGA-12-3650-10A-01D-1495-08 g.chr12:41967460G>A c.2879G>A c.(2878-2880)cGt>cAt p.R960H GBMLGG 12 41900316 41900316 + Missense_Mutation SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr12:41900316A>G c.902A>G c.(901-903)aAt>aGt p.N301S GBMLGG 12 41900459 41900459 + Missense_Mutation SNP C C G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr12:41900459C>G c.1045C>G c.(1045-1047)Ctt>Gtt p.L349V GBMLGG 12 41966493 41966493 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:41966493C>T c.1912C>T c.(1912-1914)Cga>Tga p.R638* GBMLGG 12 41966618 41966618 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 g.chr12:41966618G>C c.2037G>C c.(2035-2037)gaG>gaC p.E679D GBMLGG 12 41966991 41966991 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:41966991G>A c.2410G>A c.(2410-2412)Gct>Act p.A804T GBMLGG 12 41967365 41967365 + Silent SNP C C T TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 g.chr12:41967365C>T c.2784C>T c.(2782-2784)gaC>gaT p.D928D GBMLGG 12 41967457 41967457 + Missense_Mutation SNP G G T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 g.chr12:41967457G>T c.2876G>T c.(2875-2877)cGc>cTc p.R959L GBMLGG 12 41967460 41967460 + Missense_Mutation SNP G G A TCGA-12-3650-01A-01D-1495-08 TCGA-12-3650-10A-01D-1495-08 g.chr12:41967460G>A c.2879G>A c.(2878-2880)cGt>cAt p.R960H HNSC 12 41900421 41900421 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 g.chr12:41900421C>T c.1007C>T c.(1006-1008)aCg>aTg p.T336M HNSC 12 41903701 41903701 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr12:41903701G>A c.1189G>A c.(1189-1191)Gac>Aac p.D397N HNSC 12 41957354 41957354 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:41957354A>G c.1370A>G c.(1369-1371)aAt>aGt p.N457S HNSC 12 41961614 41961614 + Silent SNP G G A TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr12:41961614G>A c.1497G>A c.(1495-1497)agG>agA p.R499R HNSC 12 41966190 41966190 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr12:41966190G>T c.1609G>T c.(1609-1611)Ggc>Tgc p.G537C HNSC 12 41966391 41966391 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr12:41966391G>A c.1810G>A c.(1810-1812)Gag>Aag p.E604K HNSC 12 41966576 41966576 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr12:41966576G>C c.1995G>C c.(1993-1995)gaG>gaC p.E665D HNSC 12 41966610 41966610 + Missense_Mutation SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 g.chr12:41966610G>A c.2029G>A c.(2029-2031)Gag>Aag p.E677K HNSC 12 41966788 41966788 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:41966788C>T c.2207C>T c.(2206-2208)tCt>tTt p.S736F HNSC 12 41966826 41966826 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr12:41966826C>A c.2245C>A c.(2245-2247)Ccg>Acg p.P749T HNSC 12 41966828 41966828 + Silent SNP G G T TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 g.chr12:41966828G>T c.2247G>T c.(2245-2247)ccG>ccT p.P749P HNSC 12 41966845 41966845 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr12:41966845C>A c.2264C>A c.(2263-2265)tCc>tAc p.S755Y HNSC 12 41966931 41966931 + Missense_Mutation SNP G G A TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chr12:41966931G>A c.2350G>A c.(2350-2352)Gga>Aga p.G784R HNSC 12 41966950 41966950 + Nonsense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr12:41966950C>A c.2369C>A c.(2368-2370)tCg>tAg p.S790* HNSC 12 41966994 41966994 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr12:41966994G>T c.2413G>T c.(2413-2415)Gaa>Taa p.E805* HNSC 12 41967120 41967120 + Missense_Mutation SNP G G C TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr12:41967120G>C c.2539G>C c.(2539-2541)Gcc>Ccc p.A847P HNSC 12 41967276 41967276 + Missense_Mutation SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr12:41967276C>G c.2695C>G c.(2695-2697)Cgg>Ggg p.R899G HNSC 12 41967305 41967305 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:41967305C>T c.2724C>T c.(2722-2724)gaC>gaT p.D908D HNSC 12 41967396 41967396 + Missense_Mutation SNP C C T TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 g.chr12:41967396C>T c.2815C>T c.(2815-2817)Cgc>Tgc p.R939C HNSC 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr12:41967475G>A c.2894G>A c.(2893-2895)cGa>cAa p.R965Q HNSC 12 41967558 41967558 + Missense_Mutation SNP A A G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr12:41967558A>G c.2977A>G c.(2977-2979)Aaa>Gaa p.K993E HNSC 12 41967568 41967568 + Missense_Mutation SNP T T A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 g.chr12:41967568T>A c.2987T>A c.(2986-2988)aTg>aAg p.M996K KICH 12 41967467 41967467 + Missense_Mutation SNP C C A TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr12:41967467C>A c.2886C>A c.(2884-2886)ttC>ttA p.F962L KIPAN 12 41585335 41585335 + Nonsense_Mutation SNP C C T TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr12:41585335C>T c.724C>T c.(724-726)Cga>Tga p.R242* KIPAN 12 41966314 41966314 + Missense_Mutation SNP A A T TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr12:41966314A>T c.1733A>T c.(1732-1734)aAt>aTt p.N578I KIPAN 12 41966392 41966392 + Missense_Mutation SNP A A T TCGA-BP-4329-01A-02D-1366-10 TCGA-BP-4329-11A-01D-1366-10 g.chr12:41966392A>T c.1811A>T c.(1810-1812)gAg>gTg p.E604V KIPAN 12 41966603 41966603 + Frame_Shift_Del DEL A A - TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr12:41966603delA c.2022delA c.(2020-2022)agafs p.R674fs KIPAN 12 41967250 41967250 + Missense_Mutation SNP A A C TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr12:41967250A>C c.2669A>C c.(2668-2670)aAg>aCg p.K890T KIPAN 12 41967467 41967467 + Missense_Mutation SNP C C A TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr12:41967467C>A c.2886C>A c.(2884-2886)ttC>ttA p.F962L KIPAN 12 41967638 41967638 + Missense_Mutation SNP G G C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chr12:41967638G>C c.3057G>C c.(3055-3057)aaG>aaC p.K1019N KIRC 12 41966392 41966392 + Missense_Mutation SNP A A T TCGA-BP-4329-01A-02D-1366-10 TCGA-BP-4329-11A-01D-1366-10 g.chr12:41966392A>T c.1811A>T c.(1810-1812)gAg>gTg p.E604V KIRC 12 41967638 41967638 + Missense_Mutation SNP G G C TCGA-B0-5712-01A-11D-1669-08 TCGA-B0-5712-11A-01D-1669-08 g.chr12:41967638G>C c.3057G>C c.(3055-3057)aaG>aaC p.K1019N KIRP 12 41585335 41585335 + Nonsense_Mutation SNP C C T TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr12:41585335C>T c.724C>T c.(724-726)Cga>Tga p.R242* KIRP 12 41966314 41966314 + Missense_Mutation SNP A A T TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr12:41966314A>T c.1733A>T c.(1732-1734)aAt>aTt p.N578I KIRP 12 41966603 41966603 + Frame_Shift_Del DEL A A - TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr12:41966603delA c.2022delA c.(2020-2022)agafs p.R674fs KIRP 12 41967250 41967250 + Missense_Mutation SNP A A C TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr12:41967250A>C c.2669A>C c.(2668-2670)aAg>aCg p.K890T LGG 12 41900316 41900316 + Missense_Mutation SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr12:41900316A>G c.902A>G c.(901-903)aAt>aGt p.N301S LGG 12 41900459 41900459 + Missense_Mutation SNP C C G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 g.chr12:41900459C>G c.1045C>G c.(1045-1047)Ctt>Gtt p.L349V LGG 12 41966493 41966493 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:41966493C>T c.1912C>T c.(1912-1914)Cga>Tga p.R638* LGG 12 41966618 41966618 + Missense_Mutation SNP G G C TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 g.chr12:41966618G>C c.2037G>C c.(2035-2037)gaG>gaC p.E679D LGG 12 41966991 41966991 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:41966991G>A c.2410G>A c.(2410-2412)Gct>Act p.A804T LGG 12 41967457 41967457 + Missense_Mutation SNP G G T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 g.chr12:41967457G>T c.2876G>T c.(2875-2877)cGc>cTc p.R959L LIHC 12 41900359 41900359 + Silent SNP T T C TCGA-DD-AACG-01A-11D-A40R-10 TCGA-DD-AACG-10A-01D-A40U-10 g.chr12:41900359T>C c.945T>C c.(943-945)ccT>ccC p.P315P LIHC 12 41946515 41946515 + Silent SNP C C A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr12:41946515C>A c.1261C>A c.(1261-1263)Cga>Aga p.R421R LIHC 12 41949558 41949558 + Nonsense_Mutation SNP T T A TCGA-G3-A6UC-01A-21D-A33K-10 TCGA-G3-A6UC-10A-01D-A33K-10 g.chr12:41949558T>A c.1361T>A c.(1360-1362)tTg>tAg p.L454* LIHC 12 41957413 41957413 + Missense_Mutation SNP A A G TCGA-DD-A3A7-01A-11D-A22F-10 TCGA-DD-A3A7-11A-11D-A22F-10 g.chr12:41957413A>G c.1429A>G c.(1429-1431)Aag>Gag p.K477E LIHC 12 41961651 41961651 + Nonsense_Mutation SNP G G T TCGA-ZP-A9CV-01A-11D-A382-10 TCGA-ZP-A9CV-10B-01D-A385-10 g.chr12:41961651G>T c.1534G>T c.(1534-1536)Gaa>Taa p.E512* LIHC 12 41966302 41966302 + Missense_Mutation SNP C C A TCGA-CC-A7II-01A-11D-A33K-10 TCGA-CC-A7II-10A-01D-A33K-10 g.chr12:41966302C>A c.1721C>A c.(1720-1722)gCc>gAc p.A574D LIHC 12 41966919 41966919 + Missense_Mutation SNP C C G TCGA-CC-A5UC-01A-11D-A28X-10 TCGA-CC-A5UC-10A-01D-A28X-10 g.chr12:41966919C>G c.2338C>G c.(2338-2340)Cag>Gag p.Q780E LIHC 12 41967381 41967381 + Nonsense_Mutation SNP G G T TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr12:41967381G>T c.2800G>T c.(2800-2802)Gag>Tag p.E934* LIHC 12 41967431 41967431 + Silent SNP G G T TCGA-BC-A217-01A-11D-A152-10 TCGA-BC-A217-10A-01D-A152-10 g.chr12:41967431G>T c.2850G>T c.(2848-2850)ctG>ctT p.L950L LUAD 12 41582573 41582573 + Missense_Mutation SNP T T G TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr12:41582573T>G c.316T>G c.(316-318)Ttc>Gtc p.F106V LUAD 12 41582588 41582588 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr12:41582588C>A c.331C>A c.(331-333)Cgg>Agg p.R111R LUAD 12 41585260 41585260 + Splice_Site SNP G G C TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr12:41585260G>C c.649G>C c.(649-651)Gat>Cat p.D217H LUAD 12 41587896 41587896 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 g.chr12:41587896G>A c.749G>A c.(748-750)gGa>gAa p.G250E LUAD 12 41587902 41587902 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr12:41587902C>T c.755C>T c.(754-756)tCg>tTg p.S252L LUAD 12 41587940 41587940 + Missense_Mutation SNP G G A TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr12:41587940G>A c.793G>A c.(793-795)Gga>Aga p.G265R LUAD 12 41831786 41831786 + Intron SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr12:41831786C>A LUAD 12 41900492 41900492 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr12:41900492T>A c.1078T>A c.(1078-1080)Tgt>Agt p.C360S LUAD 12 41903696 41903696 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chr12:41903696C>A c.1184C>A c.(1183-1185)aCa>aAa p.T395K LUAD 12 41946494 41946494 + Missense_Mutation SNP C C G TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr12:41946494C>G c.1240C>G c.(1240-1242)Ctg>Gtg p.L414V LUAD 12 41957357 41957357 + Missense_Mutation SNP G G C TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr12:41957357G>C c.1373G>C c.(1372-1374)gGg>gCg p.G458A LUAD 12 41961624 41961624 + Missense_Mutation SNP T T A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr12:41961624T>A c.1507T>A c.(1507-1509)Tta>Ata p.L503I LUAD 12 41966167 41966167 + Splice_Site SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr12:41966167C>G c.1586C>G c.(1585-1587)cCa>cGa p.P529R LUAD 12 41966197 41966197 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr12:41966197C>A c.1616C>A c.(1615-1617)aCa>aAa p.T539K LUAD 12 41966201 41966201 + Silent SNP C C T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr12:41966201C>T c.1620C>T c.(1618-1620)gaC>gaT p.D540D LUAD 12 41966351 41966351 + Silent SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr12:41966351G>A c.1770G>A c.(1768-1770)caG>caA p.Q590Q LUAD 12 41966358 41966358 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr12:41966358G>T c.1777G>T c.(1777-1779)Gac>Tac p.D593Y LUAD 12 41966543 41966543 + Nonsense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr12:41966543C>A c.1962C>A c.(1960-1962)tgC>tgA p.C654* LUAD 12 41966616 41966616 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr12:41966616G>C c.2035G>C c.(2035-2037)Gag>Cag p.E679Q LUAD 12 41966757 41966757 + Nonsense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr12:41966757G>T c.2176G>T c.(2176-2178)Gag>Tag p.E726* LUAD 12 41966838 41966838 + Missense_Mutation SNP G G C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr12:41966838G>C c.2257G>C c.(2257-2259)Gac>Cac p.D753H LUAD 12 41966915 41966915 + Silent SNP C C T TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr12:41966915C>T c.2334C>T c.(2332-2334)gcC>gcT p.A778A LUAD 12 41967025 41967025 + Missense_Mutation SNP A A T TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr12:41967025A>T c.2444A>T c.(2443-2445)aAg>aTg p.K815M LUAD 12 41967124 41967124 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr12:41967124G>T c.2543G>T c.(2542-2544)cGg>cTg p.R848L LUAD 12 41967171 41967171 + Missense_Mutation SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr12:41967171G>A c.2590G>A c.(2590-2592)Gag>Aag p.E864K LUAD 12 41967268 41967268 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr12:41967268A>G c.2687A>G c.(2686-2688)gAc>gGc p.D896G LUAD 12 41967276 41967276 + Missense_Mutation SNP C C G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr12:41967276C>G c.2695C>G c.(2695-2697)Cgg>Ggg p.R899G LUAD 12 41967321 41967321 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr12:41967321C>A c.2740C>A c.(2740-2742)Cgt>Agt p.R914S LUAD 12 41967324 41967324 + Missense_Mutation SNP G G T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr12:41967324G>T c.2743G>T c.(2743-2745)Gcc>Tcc p.A915S LUAD 12 41967375 41967375 + Missense_Mutation SNP A A G TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr12:41967375A>G c.2794A>G c.(2794-2796)Atg>Gtg p.M932V LUAD 12 41967396 41967396 + Missense_Mutation SNP C C A TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr12:41967396C>A c.2815C>A c.(2815-2817)Cgc>Agc p.R939S LUAD 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 g.chr12:41967475G>A c.2894G>A c.(2893-2895)cGa>cAa p.R965Q LUAD 12 41967632 41967632 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr12:41967632G>T c.3051G>T c.(3049-3051)ggG>ggT p.G1017G LUSC 12 41587941 41587941 + Missense_Mutation SNP G G A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr12:41587941G>A c.794G>A c.(793-795)gGa>gAa p.G265E LUSC 12 41900384 41900384 + Missense_Mutation SNP G G T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr12:41900384G>T c.970G>T c.(970-972)Gct>Tct p.A324S LUSC 12 41946553 41946553 + Missense_Mutation SNP C C A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr12:41946553C>A c.1299C>A c.(1297-1299)agC>agA p.S433R LUSC 12 41966418 41966418 + Missense_Mutation SNP G G C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr12:41966418G>C c.1837G>C c.(1837-1839)Gac>Cac p.D613H LUSC 12 41966513 41966513 + Silent SNP C C T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr12:41966513C>T c.1932C>T c.(1930-1932)gaC>gaT p.D644D LUSC 12 41966568 41966568 + Missense_Mutation SNP G G C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr12:41966568G>C c.1987G>C c.(1987-1989)Gag>Cag p.E663Q LUSC 12 41966734 41966734 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:41966734G>A c.2153G>A c.(2152-2154)aGg>aAg p.R718K LUSC 12 41966841 41966841 + Missense_Mutation SNP C C G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr12:41966841C>G c.2260C>G c.(2260-2262)Cgt>Ggt p.R754G LUSC 12 41966881 41966881 + Missense_Mutation SNP C C A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr12:41966881C>A c.2300C>A c.(2299-2301)aCc>aAc p.T767N LUSC 12 41967075 41967075 + Missense_Mutation SNP C C T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr12:41967075C>T c.2494C>T c.(2494-2496)Cct>Tct p.P832S LUSC 12 41967358 41967358 + Missense_Mutation SNP C C G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr12:41967358C>G c.2777C>G c.(2776-2778)aCc>aGc p.T926S LUSC 12 41967593 41967593 + Frame_Shift_Del DEL G G - TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr12:41967593delG c.3012delG c.(3010-3012)ttgfs p.L1004fs OV 12 41946499 41946499 + Silent SNP C C A TCGA-13-0916-01A-01W-0420-08 TCGA-13-0916-10A-01D-0399-08 g.chr12:41946499C>A c.1245C>A c.(1243-1245)ggC>ggA p.G415G OV 12 41966489 41966489 + Missense_Mutation SNP G G T TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 g.chr12:41966489G>T c.1908G>T c.(1906-1908)aaG>aaT p.K636N OV 12 41966724 41966724 + Missense_Mutation SNP G G C TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 g.chr12:41966724G>C c.2143G>C c.(2143-2145)Gat>Cat p.D715H PAAD 12 41900458 41900458 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:41900458G>T c.1044G>T c.(1042-1044)aaG>aaT p.K348N PAAD 12 41949534 41949534 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:41949534G>A c.1337G>A c.(1336-1338)cGg>cAg p.R446Q PAAD 12 41966623 41966623 + Missense_Mutation SNP A A C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 g.chr12:41966623A>C c.2042A>C c.(2041-2043)cAg>cCg p.Q681P PAAD 12 41966629 41966629 + Missense_Mutation SNP T T A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chr12:41966629T>A c.2048T>A c.(2047-2049)aTc>aAc p.I683N PAAD 12 41966704 41966704 + Missense_Mutation SNP G G A TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr12:41966704G>A c.2123G>A c.(2122-2124)cGg>cAg p.R708Q PAAD 12 41966931 41966931 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 g.chr12:41966931G>A c.2350G>A c.(2350-2352)Gga>Aga p.G784R PRAD 12 41585332 41585332 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:41585332G>T c.721G>T c.(721-723)Ggt>Tgt p.G241C PRAD 12 41900472 41900472 + Missense_Mutation SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 g.chr12:41900472C>A c.1058C>A c.(1057-1059)aCc>aAc p.T353N PRAD 12 41966530 41966530 + Missense_Mutation SNP G G A TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 g.chr12:41966530G>A c.1949G>A c.(1948-1950)aGc>aAc p.S650N READ 12 41957421 41957421 + Silent SNP C C T TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr12:41957421C>T c.1437C>T c.(1435-1437)atC>atT p.I479I READ 12 41966505 41966505 + Nonsense_Mutation SNP G G T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:41966505G>T c.1924G>T c.(1924-1926)Gag>Tag p.E642* READ 12 41966705 41966705 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:41966705G>A c.2124G>A c.(2122-2124)cgG>cgA p.R708R READ 12 41967301 41967301 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:41967301G>A c.2720G>A c.(2719-2721)cGa>cAa p.R907Q READ 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:41967475G>A c.2894G>A c.(2893-2895)cGa>cAa p.R965Q SARC 12 41961623 41961623 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr12:41961623C>T c.1506C>T c.(1504-1506)ttC>ttT p.F502F SKCM 12 41585335 41585335 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41585335C>T c.724C>T c.(724-726)Cga>Tga p.R242* SKCM 12 41587911 41587911 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr12:41587911G>A c.764G>A c.(763-765)gGa>gAa p.G255E SKCM 12 41587940 41587940 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr12:41587940G>A c.793G>A c.(793-795)Gga>Aga p.G265R SKCM 12 41831771 41831771 + Intron SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr12:41831771C>T SKCM 12 41831811 41831811 + Intron SNP C C T TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr12:41831811C>T SKCM 12 41900269 41900269 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41900269G>A c.855G>A c.(853-855)aaG>aaA p.K285K SKCM 12 41900423 41900423 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr12:41900423G>A c.1009G>A c.(1009-1011)Gac>Aac p.D337N SKCM 12 41900474 41900474 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41900474C>T c.1060C>T c.(1060-1062)Cct>Tct p.P354S SKCM 12 41949535 41949535 + Silent SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr12:41949535G>A c.1338G>A c.(1336-1338)cgG>cgA p.R446R SKCM 12 41949548 41949548 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr12:41949548G>A c.1351G>A c.(1351-1353)Gat>Aat p.D451N SKCM 12 41949548 41949548 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:41949548G>A c.1351G>A c.(1351-1353)Gat>Aat p.D451N SKCM 12 41949551 41949551 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41949551C>T c.1354C>T c.(1354-1356)Cgg>Tgg p.R452W SKCM 12 41957359 41957359 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr12:41957359G>A c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K SKCM 12 41957445 41957445 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr12:41957445G>A c.1461G>A c.(1459-1461)gaG>gaA p.E487E SKCM 12 41961618 41961618 + Nonsense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:41961618G>T c.1501G>T c.(1501-1503)Gaa>Taa p.E501* SKCM 12 41961632 41961632 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41961632G>A c.1515G>A c.(1513-1515)gaG>gaA p.E505E SKCM 12 41966225 41966225 + Silent SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr12:41966225C>T c.1644C>T c.(1642-1644)aaC>aaT p.N548N SKCM 12 41966269 41966269 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:41966269G>A c.1688G>A c.(1687-1689)cGa>cAa p.R563Q SKCM 12 41966269 41966269 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr12:41966269G>A c.1688G>A c.(1687-1689)cGa>cAa p.R563Q SKCM 12 41966312 41966312 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr12:41966312C>T c.1731C>T c.(1729-1731)ccC>ccT p.P577P SKCM 12 41966347 41966347 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr12:41966347G>A c.1766G>A c.(1765-1767)gGg>gAg p.G589E SKCM 12 41966399 41966399 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr12:41966399C>T c.1818C>T c.(1816-1818)ctC>ctT p.L606L SKCM 12 41966551 41966551 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr12:41966551G>A c.1970G>A c.(1969-1971)gGg>gAg p.G657E SKCM 12 41966705 41966705 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41966705G>A c.2124G>A c.(2122-2124)cgG>cgA p.R708R SKCM 12 41966780 41966780 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr12:41966780G>A c.2199G>A c.(2197-2199)aaG>aaA p.K733K SKCM 12 41966907 41966907 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr12:41966907A>T c.2326A>T c.(2326-2328)Atg>Ttg p.M776L SKCM 12 41967003 41967003 + Missense_Mutation SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr12:41967003G>A c.2422G>A c.(2422-2424)Gag>Aag p.E808K SKCM 12 41967191 41967191 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41967191C>T c.2610C>T c.(2608-2610)ctC>ctT p.L870L SKCM 12 41967242 41967242 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr12:41967242G>A c.2661G>A c.(2659-2661)atG>atA p.M887I SKCM 12 41967243 41967243 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr12:41967243G>A c.2662G>A c.(2662-2664)Gaa>Aaa p.E888K SKCM 12 41967284 41967284 + Silent SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr12:41967284C>T c.2703C>T c.(2701-2703)atC>atT p.I901I SKCM 12 41967301 41967301 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41967301G>A c.2720G>A c.(2719-2721)cGa>cAa p.R907Q SKCM 12 41967311 41967311 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr12:41967311C>G c.2730C>G c.(2728-2730)atC>atG p.I910M SKCM 12 41967335 41967335 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr12:41967335C>T c.2754C>T c.(2752-2754)atC>atT p.I918I SKCM 12 41967339 41967339 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr12:41967339G>A c.2758G>A c.(2758-2760)Gaa>Aaa p.E920K SKCM 12 41967386 41967386 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr12:41967386G>A c.2805G>A c.(2803-2805)atG>atA p.M935I SKCM 12 41967416 41967416 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr12:41967416G>A c.2835G>A c.(2833-2835)gaG>gaA p.E945E SKCM 12 41967546 41967546 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:41967546G>A c.2965G>A c.(2965-2967)Gaa>Aaa p.E989K SKCM 12 41967584 41967584 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:41967584G>A c.3003G>A c.(3001-3003)aaG>aaA p.K1001K SKCM 12 41967587 41967587 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr12:41967587A>T c.3006A>T c.(3004-3006)aaA>aaT p.K1002N SKCM 12 41967660 41967660 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr12:41967660C>T c.3079C>T c.(3079-3081)Cat>Tat p.H1027Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 41957445 41957445 single base substitution G T exon_variant BLCA-CN 12 41957445 41957445 single base substitution G T missense_variant E227D 681G>T BLCA-CN 12 41957445 41957445 single base substitution G T missense_variant E229D 687G>T BLCA-CN 12 41957445 41957445 single base substitution G T missense_variant E487D 1461G>T BLCA-CN 12 41966708 41966708 single base substitution T A exon_variant BLCA-CN 12 41966708 41966708 single base substitution T A missense_variant N449K 1347T>A BLCA-CN 12 41966708 41966708 single base substitution T A missense_variant N451K 1353T>A BLCA-CN 12 41966708 41966708 single base substitution T A missense_variant N709K 2127T>A BLCA-US 12 41587902 41587902 single base substitution C T missense_variant S252L 755C>T BLCA-US 12 41966494 41966494 single base substitution G A exon_variant BLCA-US 12 41966494 41966494 single base substitution G A missense_variant R378Q 1133G>A BLCA-US 12 41966494 41966494 single base substitution G A missense_variant R380Q 1139G>A BLCA-US 12 41966494 41966494 single base substitution G A missense_variant R638Q 1913G>A BLCA-US 12 41966808 41966808 single base substitution G C exon_variant BLCA-US 12 41966808 41966808 single base substitution G C missense_variant E483Q 1447G>C BLCA-US 12 41966808 41966808 single base substitution G C missense_variant E485Q 1453G>C BLCA-US 12 41966808 41966808 single base substitution G C missense_variant E743Q 2227G>C BLCA-US 12 41967407 41967407 single base substitution C T exon_variant BLCA-US 12 41967407 41967407 single base substitution C T synonymous_variant S682S 2046C>T BLCA-US 12 41967407 41967407 single base substitution C T synonymous_variant S684S 2052C>T BLCA-US 12 41967407 41967407 single base substitution C T synonymous_variant S942S 2826C>T BLCA-US 12 41967486 41967486 single base substitution G A exon_variant BLCA-US 12 41967486 41967486 single base substitution G A missense_variant E709K 2125G>A BLCA-US 12 41967486 41967486 single base substitution G A missense_variant E711K 2131G>A BLCA-US 12 41967486 41967486 single base substitution G A missense_variant E969K 2905G>A BOCA-FR 12 41610221 41610221 single base substitution C T intron_variant BOCA-FR 12 41749878 41749878 single base substitution G A intron_variant BOCA-FR 12 41960366 41960366 single base substitution C T intron_variant BRCA-EU 12 41577349 41577349 single base substitution T G upstream_gene_variant BRCA-EU 12 41577397 41577397 single base substitution G A upstream_gene_variant BRCA-EU 12 41577553 41577553 single base substitution C A upstream_gene_variant BRCA-EU 12 41578083 41578083 insertion of <=200bp - A upstream_gene_variant BRCA-EU 12 41578111 41578111 single base substitution C T upstream_gene_variant BRCA-EU 12 41578686 41578686 single base substitution G C upstream_gene_variant BRCA-EU 12 41578731 41578731 single base substitution C A upstream_gene_variant BRCA-EU 12 41581394 41581394 single base substitution G A upstream_gene_variant BRCA-EU 12 41581692 41581692 single base substitution C T upstream_gene_variant BRCA-EU 12 41581857 41581857 single base substitution T A upstream_gene_variant BRCA-EU 12 41582340 41582340 single base substitution C A missense_variant P28H 83C>A BRCA-EU 12 41582413 41582413 single base substitution C T synonymous_variant C52C 156C>T BRCA-EU 12 41582603 41582603 single base substitution G C missense_variant G116R 346G>C BRCA-EU 12 41582894 41582894 single base substitution G A missense_variant G213S 637G>A BRCA-EU 12 41583378 41583378 single base substitution G C intron_variant BRCA-EU 12 41584019 41584019 single base substitution G C intron_variant BRCA-EU 12 41584906 41584906 single base substitution A G intron_variant BRCA-EU 12 41588440 41588440 single base substitution C T intron_variant BRCA-EU 12 41589241 41589241 single base substitution T C intron_variant BRCA-EU 12 41589381 41589381 deletion of <=200bp A - intron_variant BRCA-EU 12 41590573 41590573 single base substitution C A intron_variant BRCA-EU 12 41591126 41591126 single base substitution C T intron_variant BRCA-EU 12 41591458 41591458 single base substitution T C intron_variant BRCA-EU 12 41591460 41591460 single base substitution C T intron_variant BRCA-EU 12 41591471 41591471 single base substitution A T intron_variant BRCA-EU 12 41591720 41591720 single base substitution G T intron_variant BRCA-EU 12 41592200 41592200 single base substitution C A intron_variant BRCA-EU 12 41592272 41592272 single base substitution G A intron_variant BRCA-EU 12 41593653 41593653 single base substitution G A intron_variant BRCA-EU 12 41596844 41596844 single base substitution G T intron_variant BRCA-EU 12 41597167 41597184 deletion of <=200bp ACAGGAAAAGTCAGAGAG - intron_variant BRCA-EU 12 41598179 41598179 single base substitution T G intron_variant BRCA-EU 12 41598209 41598209 single base substitution G C intron_variant BRCA-EU 12 41598671 41598671 single base substitution A T intron_variant BRCA-EU 12 41598730 41598730 single base substitution A G intron_variant BRCA-EU 12 41598841 41598841 single base substitution C T intron_variant BRCA-EU 12 41599223 41599223 single base substitution C G intron_variant BRCA-EU 12 41599522 41599522 single base substitution A T intron_variant BRCA-EU 12 41599675 41599675 single base substitution C T intron_variant BRCA-EU 12 41600000 41600000 single base substitution T G intron_variant BRCA-EU 12 41601994 41601994 single base substitution T C intron_variant BRCA-EU 12 41602034 41602034 single base substitution T C intron_variant BRCA-EU 12 41602661 41602661 single base substitution T C intron_variant BRCA-EU 12 41604858 41604858 single base substitution C T intron_variant BRCA-EU 12 41605268 41605268 deletion of <=200bp T - intron_variant BRCA-EU 12 41605723 41605723 single base substitution G T intron_variant BRCA-EU 12 41606225 41606225 single base substitution C T intron_variant BRCA-EU 12 41606520 41606520 single base substitution T G intron_variant BRCA-EU 12 41608900 41608900 single base substitution G A intron_variant BRCA-EU 12 41609061 41609061 single base substitution C G intron_variant BRCA-EU 12 41610371 41610371 single base substitution T A intron_variant BRCA-EU 12 41610762 41610762 single base substitution A G intron_variant BRCA-EU 12 41611199 41611199 single base substitution C G intron_variant BRCA-EU 12 41611209 41611209 single base substitution C T intron_variant BRCA-EU 12 41611296 41611296 single base substitution T G intron_variant BRCA-EU 12 41611487 41611487 single base substitution C G intron_variant BRCA-EU 12 41612051 41612051 single base substitution C T intron_variant BRCA-EU 12 41612937 41612937 single base substitution C T intron_variant BRCA-EU 12 41612970 41612970 single base substitution A T intron_variant BRCA-EU 12 41612994 41612994 single base substitution G A intron_variant BRCA-EU 12 41613704 41613704 single base substitution C T intron_variant BRCA-EU 12 41615004 41615004 single base substitution T C intron_variant BRCA-EU 12 41616160 41616160 single base substitution C T intron_variant BRCA-EU 12 41616526 41616526 single base substitution C T intron_variant BRCA-EU 12 41616554 41616554 single base substitution T C intron_variant BRCA-EU 12 41616574 41616574 single base substitution G T intron_variant BRCA-EU 12 41616653 41616653 single base substitution G T intron_variant BRCA-EU 12 41617638 41617638 deletion of <=200bp A - intron_variant BRCA-EU 12 41618373 41618373 single base substitution A G intron_variant BRCA-EU 12 41618469 41618469 single base substitution G C intron_variant BRCA-EU 12 41618718 41618718 single base substitution C G intron_variant BRCA-EU 12 41618983 41618983 single base substitution C T intron_variant BRCA-EU 12 41619044 41619044 single base substitution A C intron_variant BRCA-EU 12 41619121 41619121 single base substitution T A intron_variant BRCA-EU 12 41619534 41619534 single base substitution A C intron_variant BRCA-EU 12 41619756 41619756 deletion of <=200bp T - intron_variant BRCA-EU 12 41619860 41619860 single base substitution A G intron_variant BRCA-EU 12 41621142 41621142 single base substitution T A intron_variant BRCA-EU 12 41621196 41621196 single base substitution G C intron_variant BRCA-EU 12 41622186 41622186 deletion of <=200bp T - intron_variant BRCA-EU 12 41622283 41622283 deletion of <=200bp A - intron_variant BRCA-EU 12 41622599 41622599 single base substitution G A intron_variant BRCA-EU 12 41624364 41624364 single base substitution G A intron_variant BRCA-EU 12 41624732 41624732 single base substitution A G intron_variant BRCA-EU 12 41625496 41625496 single base substitution G C intron_variant BRCA-EU 12 41626935 41626935 single base substitution G A intron_variant BRCA-EU 12 41626949 41626949 single base substitution C G intron_variant BRCA-EU 12 41627607 41627607 single base substitution G T intron_variant BRCA-EU 12 41628302 41628302 single base substitution G C intron_variant BRCA-EU 12 41628804 41628804 single base substitution G A intron_variant BRCA-EU 12 41629347 41629347 single base substitution G A intron_variant BRCA-EU 12 41629611 41629611 single base substitution T G intron_variant BRCA-EU 12 41630533 41630533 single base substitution C A intron_variant BRCA-EU 12 41630646 41630646 single base substitution A G intron_variant BRCA-EU 12 41632142 41632142 single base substitution C A intron_variant BRCA-EU 12 41632431 41632431 single base substitution C G intron_variant BRCA-EU 12 41634929 41634929 single base substitution T A intron_variant BRCA-EU 12 41635835 41635835 single base substitution C T intron_variant BRCA-EU 12 41636346 41636346 single base substitution C A intron_variant BRCA-EU 12 41637791 41637791 single base substitution G C intron_variant BRCA-EU 12 41638896 41638896 single base substitution C G intron_variant BRCA-EU 12 41639062 41639062 single base substitution T A intron_variant BRCA-EU 12 41639231 41639231 single base substitution G C intron_variant BRCA-EU 12 41639343 41639343 single base substitution G C intron_variant BRCA-EU 12 41639736 41639736 single base substitution G T intron_variant BRCA-EU 12 41641355 41641355 single base substitution G A intron_variant BRCA-EU 12 41641866 41641866 single base substitution T C intron_variant BRCA-EU 12 41643188 41643188 single base substitution C T intron_variant BRCA-EU 12 41643653 41643653 single base substitution T A intron_variant BRCA-EU 12 41644015 41644015 single base substitution T A intron_variant BRCA-EU 12 41644522 41644522 single base substitution T G intron_variant BRCA-EU 12 41644579 41644579 single base substitution C A intron_variant BRCA-EU 12 41645656 41645656 single base substitution G A intron_variant BRCA-EU 12 41646886 41646886 single base substitution T A intron_variant BRCA-EU 12 41647627 41647627 single base substitution C T intron_variant BRCA-EU 12 41648021 41648021 single base substitution A C intron_variant BRCA-EU 12 41649192 41649192 single base substitution C T intron_variant BRCA-EU 12 41649353 41649353 single base substitution G A intron_variant BRCA-EU 12 41650767 41650767 single base substitution T A intron_variant BRCA-EU 12 41651239 41651239 single base substitution G A intron_variant BRCA-EU 12 41651371 41651371 single base substitution C G intron_variant BRCA-EU 12 41652271 41652271 single base substitution T C intron_variant BRCA-EU 12 41654236 41654236 single base substitution G A intron_variant BRCA-EU 12 41654847 41654847 single base substitution G A intron_variant BRCA-EU 12 41655136 41655136 single base substitution A G intron_variant BRCA-EU 12 41655188 41655188 single base substitution G A intron_variant BRCA-EU 12 41655437 41655437 single base substitution G A intron_variant BRCA-EU 12 41657973 41657973 single base substitution T C intron_variant BRCA-EU 12 41658194 41658194 single base substitution A G intron_variant BRCA-EU 12 41658492 41658492 single base substitution A C intron_variant BRCA-EU 12 41659001 41659001 single base substitution A G intron_variant BRCA-EU 12 41659653 41659653 single base substitution G A intron_variant BRCA-EU 12 41661210 41661210 deletion of <=200bp A - intron_variant BRCA-EU 12 41662690 41662690 single base substitution C T intron_variant BRCA-EU 12 41663297 41663297 deletion of <=200bp A - intron_variant BRCA-EU 12 41663540 41663540 single base substitution G C intron_variant BRCA-EU 12 41663563 41663563 single base substitution A G intron_variant BRCA-EU 12 41663712 41663712 single base substitution G A intron_variant BRCA-EU 12 41663915 41663915 single base substitution A G intron_variant BRCA-EU 12 41664967 41664967 single base substitution A G intron_variant BRCA-EU 12 41667710 41667710 single base substitution A G intron_variant BRCA-EU 12 41667887 41667887 single base substitution A T intron_variant BRCA-EU 12 41668306 41668306 single base substitution A T intron_variant BRCA-EU 12 41668406 41668406 single base substitution C T intron_variant BRCA-EU 12 41668996 41668996 single base substitution T G intron_variant BRCA-EU 12 41669421 41669421 single base substitution T C intron_variant BRCA-EU 12 41669765 41669765 single base substitution G C intron_variant BRCA-EU 12 41671046 41671046 single base substitution C G intron_variant BRCA-EU 12 41671860 41671860 single base substitution G C intron_variant BRCA-EU 12 41672115 41672115 single base substitution C T intron_variant BRCA-EU 12 41672245 41672245 single base substitution A G intron_variant BRCA-EU 12 41672537 41672537 single base substitution T C intron_variant BRCA-EU 12 41674425 41674425 single base substitution G A intron_variant BRCA-EU 12 41674432 41674432 single base substitution A G intron_variant BRCA-EU 12 41674449 41674449 single base substitution G C intron_variant BRCA-EU 12 41674459 41674459 single base substitution C T intron_variant BRCA-EU 12 41675363 41675363 single base substitution C T intron_variant BRCA-EU 12 41677100 41677100 single base substitution C A intron_variant BRCA-EU 12 41677139 41677139 single base substitution C A intron_variant BRCA-EU 12 41677287 41677287 single base substitution G A intron_variant BRCA-EU 12 41677863 41677863 single base substitution A G intron_variant BRCA-EU 12 41678356 41678356 single base substitution A T intron_variant BRCA-EU 12 41679207 41679207 single base substitution C T intron_variant BRCA-EU 12 41680159 41680159 single base substitution T G intron_variant BRCA-EU 12 41680502 41680502 single base substitution C G intron_variant BRCA-EU 12 41681934 41681934 insertion of <=200bp - A intron_variant BRCA-EU 12 41682276 41682276 single base substitution C T intron_variant BRCA-EU 12 41682454 41682454 single base substitution C T intron_variant BRCA-EU 12 41683623 41683623 single base substitution C A intron_variant BRCA-EU 12 41684431 41684431 single base substitution G C intron_variant BRCA-EU 12 41684834 41684834 single base substitution A T intron_variant BRCA-EU 12 41684848 41684848 single base substitution C T intron_variant BRCA-EU 12 41685251 41685251 single base substitution C T intron_variant BRCA-EU 12 41685320 41685320 single base substitution A T intron_variant BRCA-EU 12 41685632 41685632 single base substitution C T intron_variant BRCA-EU 12 41687000 41687000 single base substitution C T intron_variant BRCA-EU 12 41687036 41687036 single base substitution G T intron_variant BRCA-EU 12 41687301 41687301 single base substitution G C intron_variant BRCA-EU 12 41687338 41687338 single base substitution T A intron_variant BRCA-EU 12 41687906 41687906 single base substitution A G intron_variant BRCA-EU 12 41687925 41687925 single base substitution C T intron_variant BRCA-EU 12 41687931 41687931 single base substitution C A intron_variant BRCA-EU 12 41688318 41688318 single base substitution G T intron_variant BRCA-EU 12 41688718 41688718 single base substitution G A intron_variant BRCA-EU 12 41688747 41688747 single base substitution G A intron_variant BRCA-EU 12 41689349 41689349 single base substitution C T intron_variant BRCA-EU 12 41691003 41691003 single base substitution C T intron_variant BRCA-EU 12 41691060 41691060 deletion of <=200bp A - intron_variant BRCA-EU 12 41691913 41691913 single base substitution C A intron_variant BRCA-EU 12 41693068 41693068 insertion of <=200bp - GA intron_variant BRCA-EU 12 41694661 41694661 single base substitution C G intron_variant BRCA-EU 12 41696972 41696972 single base substitution A C intron_variant BRCA-EU 12 41698183 41698183 single base substitution G A intron_variant BRCA-EU 12 41698979 41698979 single base substitution C T intron_variant BRCA-EU 12 41701591 41701591 single base substitution T C intron_variant BRCA-EU 12 41702091 41702091 single base substitution A T intron_variant BRCA-EU 12 41702139 41702139 single base substitution G C intron_variant BRCA-EU 12 41704223 41704223 deletion of <=200bp T - intron_variant BRCA-EU 12 41705048 41705048 single base substitution G T intron_variant BRCA-EU 12 41706721 41706721 single base substitution C A intron_variant BRCA-EU 12 41706765 41706765 single base substitution C G intron_variant BRCA-EU 12 41707290 41707290 single base substitution C T intron_variant BRCA-EU 12 41710998 41710998 single base substitution A G intron_variant BRCA-EU 12 41711219 41711219 single base substitution G C intron_variant BRCA-EU 12 41712654 41712654 single base substitution C G intron_variant BRCA-EU 12 41713777 41713777 single base substitution G A intron_variant BRCA-EU 12 41713934 41713934 single base substitution G A intron_variant BRCA-EU 12 41715605 41715605 single base substitution G A intron_variant BRCA-EU 12 41715849 41715849 insertion of <=200bp - T intron_variant BRCA-EU 12 41716323 41716323 single base substitution C T intron_variant BRCA-EU 12 41716724 41716724 deletion of <=200bp A - intron_variant BRCA-EU 12 41719220 41719220 single base substitution A C intron_variant BRCA-EU 12 41719467 41719467 single base substitution T C intron_variant BRCA-EU 12 41720997 41720997 insertion of <=200bp - T intron_variant BRCA-EU 12 41721473 41721473 single base substitution C G intron_variant BRCA-EU 12 41722185 41722185 single base substitution G T intron_variant BRCA-EU 12 41724632 41724632 single base substitution G T intron_variant BRCA-EU 12 41725919 41725919 single base substitution C T intron_variant BRCA-EU 12 41726269 41726269 single base substitution G T intron_variant BRCA-EU 12 41726997 41726997 single base substitution T G intron_variant BRCA-EU 12 41727012 41727012 single base substitution G A intron_variant BRCA-EU 12 41727523 41727523 single base substitution T A intron_variant BRCA-EU 12 41727838 41727838 single base substitution C T intron_variant BRCA-EU 12 41727964 41727964 single base substitution C G intron_variant BRCA-EU 12 41727969 41727969 single base substitution C A intron_variant BRCA-EU 12 41728586 41728586 single base substitution T G intron_variant BRCA-EU 12 41728806 41728806 single base substitution A T intron_variant BRCA-EU 12 41728897 41728897 single base substitution T C intron_variant BRCA-EU 12 41729249 41729249 single base substitution A G intron_variant BRCA-EU 12 41729699 41729699 insertion of <=200bp - T intron_variant BRCA-EU 12 41731352 41731352 single base substitution G T intron_variant BRCA-EU 12 41731656 41731656 single base substitution G C intron_variant BRCA-EU 12 41732635 41732635 deletion of <=200bp A - intron_variant BRCA-EU 12 41732801 41732801 single base substitution C A intron_variant BRCA-EU 12 41733162 41733162 single base substitution C A intron_variant BRCA-EU 12 41736285 41736285 single base substitution A G intron_variant BRCA-EU 12 41739557 41739557 single base substitution A G intron_variant BRCA-EU 12 41740037 41740037 single base substitution G A intron_variant BRCA-EU 12 41740137 41740137 single base substitution G A intron_variant BRCA-EU 12 41740223 41740223 single base substitution C A intron_variant BRCA-EU 12 41742341 41742341 single base substitution C A intron_variant BRCA-EU 12 41744777 41744777 single base substitution T C intron_variant BRCA-EU 12 41744778 41744778 single base substitution G C intron_variant BRCA-EU 12 41744780 41744780 single base substitution T A intron_variant BRCA-EU 12 41745571 41745571 single base substitution G A intron_variant BRCA-EU 12 41745898 41745898 single base substitution G T intron_variant BRCA-EU 12 41745937 41745937 single base substitution G A intron_variant BRCA-EU 12 41746364 41746364 single base substitution T A intron_variant BRCA-EU 12 41749484 41749484 single base substitution G C intron_variant BRCA-EU 12 41749527 41749527 single base substitution T G intron_variant BRCA-EU 12 41749672 41749672 single base substitution G A intron_variant BRCA-EU 12 41749764 41749764 single base substitution A G intron_variant BRCA-EU 12 41751667 41751667 single base substitution C G intron_variant BRCA-EU 12 41752049 41752049 single base substitution C A intron_variant BRCA-EU 12 41752084 41752084 single base substitution C G intron_variant BRCA-EU 12 41752273 41752273 single base substitution A T intron_variant BRCA-EU 12 41752992 41752992 single base substitution A T intron_variant BRCA-EU 12 41755292 41755292 single base substitution G A intron_variant BRCA-EU 12 41755595 41755595 single base substitution G A intron_variant BRCA-EU 12 41756150 41756150 single base substitution A G intron_variant BRCA-EU 12 41757525 41757525 single base substitution A T intron_variant BRCA-EU 12 41757574 41757574 single base substitution A T intron_variant BRCA-EU 12 41758189 41758189 single base substitution T G intron_variant BRCA-EU 12 41758571 41758571 single base substitution G C intron_variant BRCA-EU 12 41758793 41758793 single base substitution C G intron_variant BRCA-EU 12 41760029 41760029 single base substitution A G intron_variant BRCA-EU 12 41760271 41760271 single base substitution T A intron_variant BRCA-EU 12 41760979 41760979 single base substitution C G intron_variant BRCA-EU 12 41761407 41761407 single base substitution C G intron_variant BRCA-EU 12 41761658 41761658 single base substitution G A intron_variant BRCA-EU 12 41762012 41762012 single base substitution T C intron_variant BRCA-EU 12 41762053 41762053 single base substitution C T intron_variant BRCA-EU 12 41762511 41762511 single base substitution A C intron_variant BRCA-EU 12 41763791 41763791 single base substitution G C intron_variant BRCA-EU 12 41763859 41763859 single base substitution T G intron_variant BRCA-EU 12 41764388 41764388 single base substitution C T intron_variant BRCA-EU 12 41766840 41766840 single base substitution T A intron_variant BRCA-EU 12 41767208 41767208 single base substitution G A intron_variant BRCA-EU 12 41767489 41767489 single base substitution C T intron_variant BRCA-EU 12 41767513 41767513 single base substitution T C intron_variant BRCA-EU 12 41769593 41769593 single base substitution T C intron_variant BRCA-EU 12 41770049 41770049 single base substitution G T intron_variant BRCA-EU 12 41770201 41770201 deletion of <=200bp T - intron_variant BRCA-EU 12 41770389 41770389 single base substitution A C intron_variant BRCA-EU 12 41770677 41770677 single base substitution T C intron_variant BRCA-EU 12 41771173 41771173 single base substitution T C intron_variant BRCA-EU 12 41772320 41772320 single base substitution C T intron_variant BRCA-EU 12 41772558 41772558 single base substitution C T intron_variant BRCA-EU 12 41772651 41772651 single base substitution T C intron_variant BRCA-EU 12 41773491 41773491 single base substitution C G intron_variant BRCA-EU 12 41773760 41773760 insertion of <=200bp - TA intron_variant BRCA-EU 12 41773787 41773787 single base substitution C T intron_variant BRCA-EU 12 41774420 41774420 single base substitution A C intron_variant BRCA-EU 12 41775359 41775359 single base substitution C T intron_variant BRCA-EU 12 41775512 41775512 single base substitution T C intron_variant BRCA-EU 12 41777176 41777176 single base substitution T C intron_variant BRCA-EU 12 41779207 41779207 single base substitution A G intron_variant BRCA-EU 12 41779891 41779891 single base substitution G C intron_variant BRCA-EU 12 41780160 41780160 single base substitution G A intron_variant BRCA-EU 12 41780277 41780277 single base substitution G A intron_variant BRCA-EU 12 41780867 41780867 single base substitution G T intron_variant BRCA-EU 12 41781148 41781148 single base substitution G A intron_variant BRCA-EU 12 41781697 41781697 single base substitution A C intron_variant BRCA-EU 12 41782290 41782290 single base substitution A G intron_variant BRCA-EU 12 41782774 41782774 single base substitution A G intron_variant BRCA-EU 12 41784998 41784998 single base substitution G A intron_variant BRCA-EU 12 41786375 41786375 single base substitution A G intron_variant BRCA-EU 12 41786496 41786496 single base substitution G T intron_variant BRCA-EU 12 41788213 41788213 single base substitution G A intron_variant BRCA-EU 12 41790773 41790773 single base substitution A G intron_variant BRCA-EU 12 41791058 41791058 single base substitution C T intron_variant BRCA-EU 12 41793438 41793438 single base substitution T C intron_variant BRCA-EU 12 41794405 41794405 single base substitution C T intron_variant BRCA-EU 12 41795268 41795268 single base substitution C G intron_variant BRCA-EU 12 41795794 41795794 single base substitution G A intron_variant BRCA-EU 12 41798450 41798450 deletion of <=200bp A - intron_variant BRCA-EU 12 41799284 41799284 single base substitution C T intron_variant BRCA-EU 12 41800278 41800278 single base substitution C T intron_variant BRCA-EU 12 41800553 41800553 single base substitution G A intron_variant BRCA-EU 12 41800929 41800929 single base substitution G A intron_variant BRCA-EU 12 41801363 41801367 multiple base substitution (>=2bp and <=200bp) CTCAC CT intron_variant BRCA-EU 12 41801368 41801368 single base substitution A T intron_variant BRCA-EU 12 41802381 41802381 single base substitution A T intron_variant BRCA-EU 12 41802584 41802584 single base substitution C G intron_variant BRCA-EU 12 41802587 41802587 single base substitution C T intron_variant BRCA-EU 12 41803096 41803096 single base substitution A C intron_variant BRCA-EU 12 41803178 41803178 single base substitution C G intron_variant BRCA-EU 12 41805240 41805240 single base substitution G A intron_variant BRCA-EU 12 41805509 41805509 single base substitution A G intron_variant BRCA-EU 12 41806274 41806274 single base substitution A G intron_variant BRCA-EU 12 41806339 41806339 single base substitution C G intron_variant BRCA-EU 12 41807936 41807936 single base substitution G A intron_variant BRCA-EU 12 41808198 41808198 single base substitution C A intron_variant BRCA-EU 12 41809590 41809590 single base substitution A T intron_variant BRCA-EU 12 41809709 41809709 single base substitution G A intron_variant BRCA-EU 12 41810293 41810293 deletion of <=200bp A - intron_variant BRCA-EU 12 41810578 41810578 single base substitution G A intron_variant BRCA-EU 12 41811468 41811468 single base substitution G A intron_variant BRCA-EU 12 41813236 41813236 single base substitution A T intron_variant BRCA-EU 12 41814134 41814134 single base substitution C T intron_variant BRCA-EU 12 41814871 41814871 single base substitution C G intron_variant BRCA-EU 12 41815417 41815417 single base substitution A T intron_variant BRCA-EU 12 41815632 41815632 single base substitution A G intron_variant BRCA-EU 12 41815876 41815876 single base substitution G C intron_variant BRCA-EU 12 41816306 41816306 single base substitution G T intron_variant BRCA-EU 12 41816315 41816315 single base substitution G A intron_variant BRCA-EU 12 41816563 41816563 single base substitution G T intron_variant BRCA-EU 12 41817230 41817230 single base substitution G T intron_variant BRCA-EU 12 41817708 41817708 single base substitution C T intron_variant BRCA-EU 12 41817864 41817864 single base substitution C G intron_variant BRCA-EU 12 41818564 41818564 single base substitution G A intron_variant BRCA-EU 12 41819364 41819364 single base substitution C A intron_variant BRCA-EU 12 41820518 41820518 single base substitution G T intron_variant BRCA-EU 12 41821159 41821159 single base substitution G A intron_variant BRCA-EU 12 41821445 41821445 single base substitution A G intron_variant BRCA-EU 12 41821846 41821846 single base substitution C T intron_variant BRCA-EU 12 41822532 41822532 single base substitution G T intron_variant BRCA-EU 12 41822735 41822735 single base substitution G T intron_variant BRCA-EU 12 41822828 41822828 single base substitution A G intron_variant BRCA-EU 12 41823667 41823667 single base substitution G A intron_variant BRCA-EU 12 41824068 41824068 single base substitution G A intron_variant BRCA-EU 12 41825380 41825380 single base substitution A C intron_variant BRCA-EU 12 41827297 41827297 single base substitution A G intron_variant BRCA-EU 12 41827297 41827297 single base substitution A G upstream_gene_variant BRCA-EU 12 41827433 41827433 single base substitution G C intron_variant BRCA-EU 12 41827433 41827433 single base substitution G C upstream_gene_variant BRCA-EU 12 41828125 41828125 single base substitution C G intron_variant BRCA-EU 12 41828125 41828125 single base substitution C G upstream_gene_variant BRCA-EU 12 41830637 41830637 single base substitution G A intron_variant BRCA-EU 12 41830637 41830637 single base substitution G A upstream_gene_variant BRCA-EU 12 41830723 41830723 single base substitution A T intron_variant BRCA-EU 12 41830723 41830723 single base substitution A T upstream_gene_variant BRCA-EU 12 41830970 41830970 single base substitution G A intron_variant BRCA-EU 12 41830970 41830970 single base substitution G A upstream_gene_variant BRCA-EU 12 41830994 41830994 single base substitution A G intron_variant BRCA-EU 12 41830994 41830994 single base substitution A G upstream_gene_variant BRCA-EU 12 41831302 41831302 single base substitution T C intron_variant BRCA-EU 12 41831302 41831302 single base substitution T C upstream_gene_variant BRCA-EU 12 41831308 41831308 single base substitution C A intron_variant BRCA-EU 12 41831308 41831308 single base substitution C A upstream_gene_variant BRCA-EU 12 41831670 41831670 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 41831670 41831670 single base substitution G A intron_variant BRCA-EU 12 41832179 41832179 single base substitution G C intron_variant BRCA-EU 12 41832728 41832728 single base substitution T A intron_variant BRCA-EU 12 41833336 41833336 single base substitution T A intron_variant BRCA-EU 12 41834203 41834203 single base substitution A C intron_variant BRCA-EU 12 41834453 41834453 single base substitution A G intron_variant BRCA-EU 12 41835143 41835143 single base substitution C T intron_variant BRCA-EU 12 41836171 41836171 single base substitution T A intron_variant BRCA-EU 12 41837855 41837855 single base substitution T C intron_variant BRCA-EU 12 41840571 41840571 single base substitution G A intron_variant BRCA-EU 12 41840588 41840588 single base substitution A C intron_variant BRCA-EU 12 41842347 41842347 single base substitution C A intron_variant BRCA-EU 12 41843055 41843055 single base substitution C G intron_variant BRCA-EU 12 41844334 41844334 single base substitution G A intron_variant BRCA-EU 12 41844565 41844565 deletion of <=200bp T - intron_variant BRCA-EU 12 41844565 41844565 single base substitution T A intron_variant BRCA-EU 12 41845114 41845114 single base substitution A G intron_variant BRCA-EU 12 41845539 41845539 single base substitution G A intron_variant BRCA-EU 12 41845882 41845882 single base substitution G C intron_variant BRCA-EU 12 41845983 41845983 single base substitution G C intron_variant BRCA-EU 12 41846856 41846856 single base substitution G C intron_variant BRCA-EU 12 41846871 41846871 single base substitution G A intron_variant BRCA-EU 12 41848257 41848257 single base substitution T C intron_variant BRCA-EU 12 41848277 41848277 single base substitution A T intron_variant BRCA-EU 12 41849010 41849010 single base substitution G A intron_variant BRCA-EU 12 41849595 41849595 single base substitution C T intron_variant BRCA-EU 12 41849784 41849784 single base substitution T C intron_variant BRCA-EU 12 41850016 41850016 single base substitution C G intron_variant BRCA-EU 12 41850203 41850203 single base substitution G C intron_variant BRCA-EU 12 41850393 41850393 single base substitution A C intron_variant BRCA-EU 12 41850545 41850545 single base substitution G T intron_variant BRCA-EU 12 41851131 41851131 deletion of <=200bp T - intron_variant BRCA-EU 12 41852131 41852131 single base substitution G A intron_variant BRCA-EU 12 41852531 41852531 single base substitution T C intron_variant BRCA-EU 12 41852551 41852551 single base substitution T A intron_variant BRCA-EU 12 41852614 41852614 single base substitution A G intron_variant BRCA-EU 12 41853379 41853379 single base substitution C A intron_variant BRCA-EU 12 41854226 41854226 single base substitution C T intron_variant BRCA-EU 12 41854558 41854558 single base substitution C T intron_variant BRCA-EU 12 41855026 41855026 single base substitution C G intron_variant BRCA-EU 12 41857622 41857622 single base substitution C T intron_variant BRCA-EU 12 41858170 41858170 single base substitution T C intron_variant BRCA-EU 12 41859299 41859299 deletion of <=200bp A - intron_variant BRCA-EU 12 41859694 41859694 deletion of <=200bp T - intron_variant BRCA-EU 12 41860244 41860244 single base substitution G A intron_variant BRCA-EU 12 41860838 41860838 single base substitution G A intron_variant BRCA-EU 12 41862065 41862065 single base substitution C G intron_variant BRCA-EU 12 41862211 41862211 single base substitution C G intron_variant BRCA-EU 12 41863633 41863633 single base substitution G A intron_variant BRCA-EU 12 41863877 41863877 single base substitution C T intron_variant BRCA-EU 12 41864472 41864472 single base substitution G A intron_variant BRCA-EU 12 41865223 41865223 single base substitution A G intron_variant BRCA-EU 12 41865352 41865352 single base substitution C G intron_variant BRCA-EU 12 41865637 41865637 single base substitution A T intron_variant BRCA-EU 12 41865770 41865770 single base substitution G A intron_variant BRCA-EU 12 41865794 41865794 single base substitution A G intron_variant BRCA-EU 12 41866024 41866024 single base substitution C T intron_variant BRCA-EU 12 41866417 41866417 single base substitution G A intron_variant BRCA-EU 12 41867219 41867219 single base substitution G A intron_variant BRCA-EU 12 41868018 41868018 single base substitution C T intron_variant BRCA-EU 12 41870039 41870039 single base substitution C G intron_variant BRCA-EU 12 41870236 41870236 single base substitution A G intron_variant BRCA-EU 12 41873702 41873702 single base substitution T C intron_variant BRCA-EU 12 41873914 41873914 single base substitution T A intron_variant BRCA-EU 12 41874235 41874235 single base substitution T C intron_variant BRCA-EU 12 41874239 41874239 single base substitution G C intron_variant BRCA-EU 12 41874543 41874543 single base substitution G A intron_variant BRCA-EU 12 41875006 41875006 single base substitution G A intron_variant BRCA-EU 12 41875307 41875307 single base substitution T C intron_variant BRCA-EU 12 41876146 41876146 single base substitution C G intron_variant BRCA-EU 12 41876344 41876344 single base substitution G T intron_variant BRCA-EU 12 41877623 41877623 single base substitution C A intron_variant BRCA-EU 12 41877740 41877740 single base substitution T A intron_variant BRCA-EU 12 41878680 41878680 single base substitution T A intron_variant BRCA-EU 12 41879002 41879002 single base substitution A C intron_variant BRCA-EU 12 41879048 41879048 single base substitution G T intron_variant BRCA-EU 12 41879850 41879850 single base substitution C T intron_variant BRCA-EU 12 41879995 41879995 single base substitution T C intron_variant BRCA-EU 12 41880345 41880345 single base substitution C T intron_variant BRCA-EU 12 41880480 41880480 insertion of <=200bp - A intron_variant BRCA-EU 12 41881243 41881243 single base substitution G C intron_variant BRCA-EU 12 41881370 41881370 single base substitution A C intron_variant BRCA-EU 12 41882531 41882531 single base substitution C T intron_variant BRCA-EU 12 41884280 41884280 single base substitution C T intron_variant BRCA-EU 12 41885047 41885047 single base substitution G A intron_variant BRCA-EU 12 41886417 41886417 single base substitution C G intron_variant BRCA-EU 12 41887477 41887477 single base substitution C A intron_variant BRCA-EU 12 41887702 41887702 single base substitution A T intron_variant BRCA-EU 12 41887858 41887858 single base substitution C T intron_variant BRCA-EU 12 41889351 41889351 single base substitution G A intron_variant BRCA-EU 12 41889753 41889753 single base substitution G T intron_variant BRCA-EU 12 41890380 41890380 single base substitution A G intron_variant BRCA-EU 12 41890502 41890502 single base substitution G C intron_variant BRCA-EU 12 41890689 41890689 single base substitution G A intron_variant BRCA-EU 12 41891934 41891935 deletion of <=200bp TC - intron_variant BRCA-EU 12 41893597 41893597 single base substitution G C intron_variant BRCA-EU 12 41894299 41894299 single base substitution C G intron_variant BRCA-EU 12 41894757 41894757 single base substitution G A intron_variant BRCA-EU 12 41895189 41895189 single base substitution C G intron_variant BRCA-EU 12 41895656 41895656 single base substitution G T intron_variant BRCA-EU 12 41896366 41896366 single base substitution A G intron_variant BRCA-EU 12 41898053 41898053 single base substitution G C intron_variant BRCA-EU 12 41898730 41898730 single base substitution G A intron_variant BRCA-EU 12 41898730 41898730 single base substitution G A upstream_gene_variant BRCA-EU 12 41898750 41898750 single base substitution T A intron_variant BRCA-EU 12 41898750 41898750 single base substitution T A upstream_gene_variant BRCA-EU 12 41899517 41899517 single base substitution G C intron_variant BRCA-EU 12 41899517 41899517 single base substitution G C upstream_gene_variant BRCA-EU 12 41899817 41899817 single base substitution G A intron_variant BRCA-EU 12 41899817 41899817 single base substitution G A upstream_gene_variant BRCA-EU 12 41901159 41901159 single base substitution T C intron_variant BRCA-EU 12 41901159 41901159 single base substitution T C upstream_gene_variant BRCA-EU 12 41901245 41901245 single base substitution G A intron_variant BRCA-EU 12 41901245 41901245 single base substitution G A upstream_gene_variant BRCA-EU 12 41901295 41901295 insertion of <=200bp - T intron_variant BRCA-EU 12 41901295 41901295 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 41902311 41902311 single base substitution T G intron_variant BRCA-EU 12 41902311 41902311 single base substitution T G upstream_gene_variant BRCA-EU 12 41903296 41903296 single base substitution T G intron_variant BRCA-EU 12 41903296 41903296 single base substitution T G upstream_gene_variant BRCA-EU 12 41903784 41903784 single base substitution G T intron_variant BRCA-EU 12 41904369 41904369 single base substitution T A intron_variant BRCA-EU 12 41905385 41905385 single base substitution C T intron_variant BRCA-EU 12 41905843 41905843 single base substitution C T intron_variant BRCA-EU 12 41906972 41906972 single base substitution T A intron_variant BRCA-EU 12 41907449 41907449 single base substitution G T intron_variant BRCA-EU 12 41907871 41907871 single base substitution A G intron_variant BRCA-EU 12 41908172 41908172 single base substitution T G intron_variant BRCA-EU 12 41908529 41908529 single base substitution G T intron_variant BRCA-EU 12 41908743 41908743 single base substitution C A intron_variant BRCA-EU 12 41909598 41909598 single base substitution G T intron_variant BRCA-EU 12 41910836 41910836 single base substitution C A intron_variant BRCA-EU 12 41910935 41910935 single base substitution T C intron_variant BRCA-EU 12 41911591 41911591 deletion of <=200bp T - intron_variant BRCA-EU 12 41911845 41911845 single base substitution A C intron_variant BRCA-EU 12 41912080 41912080 single base substitution T C intron_variant BRCA-EU 12 41912142 41912142 single base substitution A G intron_variant BRCA-EU 12 41912211 41912211 single base substitution C A intron_variant BRCA-EU 12 41912913 41912913 insertion of <=200bp - A intron_variant BRCA-EU 12 41913098 41913098 single base substitution G A intron_variant BRCA-EU 12 41913232 41913232 single base substitution A G intron_variant BRCA-EU 12 41913915 41913915 single base substitution G C intron_variant BRCA-EU 12 41914031 41914031 single base substitution C T intron_variant BRCA-EU 12 41914707 41914707 single base substitution T C intron_variant BRCA-EU 12 41915206 41915206 deletion of <=200bp A - intron_variant BRCA-EU 12 41915500 41915500 single base substitution C G intron_variant BRCA-EU 12 41916271 41916271 single base substitution T C intron_variant BRCA-EU 12 41917067 41917067 single base substitution G A intron_variant BRCA-EU 12 41917104 41917104 single base substitution C G intron_variant BRCA-EU 12 41917178 41917178 single base substitution G C intron_variant BRCA-EU 12 41917668 41917668 single base substitution C A intron_variant BRCA-EU 12 41917752 41917752 single base substitution G A intron_variant BRCA-EU 12 41918925 41918925 single base substitution T A intron_variant BRCA-EU 12 41919171 41919171 single base substitution C T intron_variant BRCA-EU 12 41920286 41920286 single base substitution G C intron_variant BRCA-EU 12 41921003 41921003 single base substitution G T intron_variant BRCA-EU 12 41921139 41921139 single base substitution C T intron_variant BRCA-EU 12 41921811 41921811 single base substitution C T intron_variant BRCA-EU 12 41921913 41921913 single base substitution C T intron_variant BRCA-EU 12 41922071 41922071 single base substitution A T intron_variant BRCA-EU 12 41922949 41922949 single base substitution C T intron_variant BRCA-EU 12 41924762 41924762 single base substitution C G intron_variant BRCA-EU 12 41924763 41924763 single base substitution T G intron_variant BRCA-EU 12 41924765 41924765 single base substitution T G intron_variant BRCA-EU 12 41926090 41926090 single base substitution C T intron_variant BRCA-EU 12 41926201 41926201 single base substitution C T intron_variant BRCA-EU 12 41926995 41926995 single base substitution G T intron_variant BRCA-EU 12 41927392 41927392 single base substitution G A intron_variant BRCA-EU 12 41927697 41927697 single base substitution C A intron_variant BRCA-EU 12 41928136 41928136 single base substitution C T intron_variant BRCA-EU 12 41929156 41929156 single base substitution G A intron_variant BRCA-EU 12 41929916 41929916 single base substitution T C intron_variant BRCA-EU 12 41930169 41930169 single base substitution T G intron_variant BRCA-EU 12 41931372 41931372 single base substitution G C intron_variant BRCA-EU 12 41932002 41932002 deletion of <=200bp A - intron_variant BRCA-EU 12 41932480 41932480 single base substitution A C intron_variant BRCA-EU 12 41932531 41932531 single base substitution A G intron_variant BRCA-EU 12 41933262 41933262 single base substitution A C intron_variant BRCA-EU 12 41933738 41933738 single base substitution T A intron_variant BRCA-EU 12 41934898 41934936 multiple base substitution (>=2bp and <=200bp) TTCTTTTTGTATTTTTAGTAGCAACAGGGTTTCACCATG TTGTATTTTTAGTAGAGACGGGGTTTCACCGTG intron_variant BRCA-EU 12 41935243 41935243 single base substitution C T intron_variant BRCA-EU 12 41935289 41935289 single base substitution C T intron_variant BRCA-EU 12 41935324 41935324 single base substitution C T intron_variant BRCA-EU 12 41935359 41935359 single base substitution C T intron_variant BRCA-EU 12 41935376 41935376 single base substitution C T intron_variant BRCA-EU 12 41935389 41935389 single base substitution G A intron_variant BRCA-EU 12 41935453 41935453 single base substitution C T intron_variant BRCA-EU 12 41935490 41935490 single base substitution C T intron_variant BRCA-EU 12 41935496 41935496 single base substitution C T intron_variant BRCA-EU 12 41935512 41935512 single base substitution C T intron_variant BRCA-EU 12 41935513 41935513 single base substitution C T intron_variant BRCA-EU 12 41935602 41935602 single base substitution C T intron_variant BRCA-EU 12 41935775 41935775 single base substitution A T intron_variant BRCA-EU 12 41935863 41935863 single base substitution C A intron_variant BRCA-EU 12 41936047 41936047 single base substitution G A intron_variant BRCA-EU 12 41936618 41936618 insertion of <=200bp - T intron_variant BRCA-EU 12 41936893 41936893 single base substitution A G intron_variant BRCA-EU 12 41938176 41938176 single base substitution C T intron_variant BRCA-EU 12 41938237 41938237 single base substitution A C intron_variant BRCA-EU 12 41938651 41938651 single base substitution G C intron_variant BRCA-EU 12 41938895 41938895 single base substitution G A intron_variant BRCA-EU 12 41939604 41939604 single base substitution T C intron_variant BRCA-EU 12 41940071 41940071 single base substitution G A intron_variant BRCA-EU 12 41940585 41940585 single base substitution G A intron_variant BRCA-EU 12 41940741 41940741 single base substitution C G intron_variant BRCA-EU 12 41940876 41940876 single base substitution C T intron_variant BRCA-EU 12 41942349 41942349 single base substitution G A intron_variant BRCA-EU 12 41942350 41942350 single base substitution T A intron_variant BRCA-EU 12 41942377 41942377 single base substitution T A intron_variant BRCA-EU 12 41942552 41942552 deletion of <=200bp T - intron_variant BRCA-EU 12 41942773 41942773 deletion of <=200bp T - intron_variant BRCA-EU 12 41942910 41942910 single base substitution G A intron_variant BRCA-EU 12 41943327 41943327 single base substitution G T intron_variant BRCA-EU 12 41943372 41943372 single base substitution T C intron_variant BRCA-EU 12 41944458 41944458 single base substitution G C intron_variant BRCA-EU 12 41944613 41944613 single base substitution C A intron_variant BRCA-EU 12 41944670 41944670 single base substitution T A intron_variant BRCA-EU 12 41944872 41944872 single base substitution G T intron_variant BRCA-EU 12 41945488 41945488 single base substitution C T intron_variant BRCA-EU 12 41947677 41947677 single base substitution T C intron_variant BRCA-EU 12 41947897 41947897 single base substitution C T intron_variant BRCA-EU 12 41947913 41947925 deletion of <=200bp TTTAAATATGCAA - intron_variant BRCA-EU 12 41948655 41948655 single base substitution A G intron_variant BRCA-EU 12 41948696 41948696 single base substitution G A intron_variant BRCA-EU 12 41948765 41948765 single base substitution C T intron_variant BRCA-EU 12 41949206 41949206 single base substitution A G intron_variant BRCA-EU 12 41950638 41950638 single base substitution C T intron_variant BRCA-EU 12 41950875 41950875 single base substitution C A intron_variant BRCA-EU 12 41951100 41951100 single base substitution C A intron_variant BRCA-EU 12 41951122 41951122 single base substitution C T intron_variant BRCA-EU 12 41951805 41951805 single base substitution G A intron_variant BRCA-EU 12 41951833 41951833 single base substitution G A intron_variant BRCA-EU 12 41953208 41953208 single base substitution A C intron_variant BRCA-EU 12 41953453 41953453 single base substitution A G intron_variant BRCA-EU 12 41953653 41953653 single base substitution T A intron_variant BRCA-EU 12 41954697 41954697 single base substitution G A intron_variant BRCA-EU 12 41955738 41955738 single base substitution A C intron_variant BRCA-EU 12 41955853 41955853 single base substitution G A intron_variant BRCA-EU 12 41955902 41955902 single base substitution C A intron_variant BRCA-EU 12 41955920 41955920 single base substitution G A intron_variant BRCA-EU 12 41956598 41956598 single base substitution A C intron_variant BRCA-EU 12 41956818 41956818 single base substitution G A intron_variant BRCA-EU 12 41957124 41957124 single base substitution G T intron_variant BRCA-EU 12 41957166 41957166 single base substitution C T intron_variant BRCA-EU 12 41958346 41958346 single base substitution T C intron_variant BRCA-EU 12 41958624 41958624 single base substitution A T intron_variant BRCA-EU 12 41959125 41959125 single base substitution A C intron_variant BRCA-EU 12 41959440 41959440 single base substitution T A intron_variant BRCA-EU 12 41959850 41959850 single base substitution G T intron_variant BRCA-EU 12 41961943 41961943 single base substitution C T intron_variant BRCA-EU 12 41962699 41962699 single base substitution C T intron_variant BRCA-EU 12 41962834 41962834 single base substitution G T intron_variant BRCA-EU 12 41962966 41962966 single base substitution G A intron_variant BRCA-EU 12 41963047 41963047 single base substitution G A intron_variant BRCA-EU 12 41963052 41963052 single base substitution G C intron_variant BRCA-EU 12 41963616 41963616 single base substitution C G intron_variant BRCA-EU 12 41963980 41963980 single base substitution A G intron_variant BRCA-EU 12 41964147 41964147 single base substitution A G intron_variant BRCA-EU 12 41964948 41964949 deletion of <=200bp TA - intron_variant BRCA-EU 12 41965334 41965334 single base substitution C G intron_variant BRCA-EU 12 41966269 41966269 single base substitution G A exon_variant BRCA-EU 12 41966269 41966269 single base substitution G A missense_variant R303Q 908G>A BRCA-EU 12 41966269 41966269 single base substitution G A missense_variant R305Q 914G>A BRCA-EU 12 41966269 41966269 single base substitution G A missense_variant R563Q 1688G>A BRCA-EU 12 41966717 41966717 single base substitution C T exon_variant BRCA-EU 12 41966717 41966717 single base substitution C T synonymous_variant T452T 1356C>T BRCA-EU 12 41966717 41966717 single base substitution C T synonymous_variant T454T 1362C>T BRCA-EU 12 41966717 41966717 single base substitution C T synonymous_variant T712T 2136C>T BRCA-EU 12 41966808 41966808 single base substitution G A exon_variant BRCA-EU 12 41966808 41966808 single base substitution G A missense_variant E483K 1447G>A BRCA-EU 12 41966808 41966808 single base substitution G A missense_variant E485K 1453G>A BRCA-EU 12 41966808 41966808 single base substitution G A missense_variant E743K 2227G>A BRCA-EU 12 41966951 41966951 single base substitution G A exon_variant BRCA-EU 12 41966951 41966951 single base substitution G A synonymous_variant S530S 1590G>A BRCA-EU 12 41966951 41966951 single base substitution G A synonymous_variant S532S 1596G>A BRCA-EU 12 41966951 41966951 single base substitution G A synonymous_variant S790S 2370G>A BRCA-EU 12 41967191 41967191 single base substitution C T exon_variant BRCA-EU 12 41967191 41967191 single base substitution C T synonymous_variant L610L 1830C>T BRCA-EU 12 41967191 41967191 single base substitution C T synonymous_variant L612L 1836C>T BRCA-EU 12 41967191 41967191 single base substitution C T synonymous_variant L870L 2610C>T BRCA-EU 12 41967657 41967657 single base substitution G T exon_variant BRCA-EU 12 41967657 41967657 single base substitution G T missense_variant V1026F 3076G>T BRCA-EU 12 41967657 41967657 single base substitution G T missense_variant V766F 2296G>T BRCA-EU 12 41967657 41967657 single base substitution G T missense_variant V768F 2302G>T BRCA-EU 12 41968835 41968835 single base substitution T A downstream_gene_variant BRCA-EU 12 41969098 41969098 single base substitution T G downstream_gene_variant BRCA-EU 12 41969897 41969897 single base substitution C T downstream_gene_variant BRCA-EU 12 41970918 41970918 single base substitution G A downstream_gene_variant BRCA-EU 12 41972592 41972592 single base substitution C A downstream_gene_variant BRCA-EU 12 41972644 41972644 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 41973110 41973110 single base substitution T C downstream_gene_variant BRCA-FR 12 41577397 41577397 single base substitution G A upstream_gene_variant BRCA-FR 12 41578686 41578686 single base substitution G C upstream_gene_variant BRCA-FR 12 41584906 41584906 single base substitution A G intron_variant BRCA-FR 12 41592272 41592272 single base substitution G A intron_variant BRCA-FR 12 41593653 41593653 single base substitution G A intron_variant BRCA-FR 12 41598841 41598841 single base substitution C T intron_variant BRCA-FR 12 41611300 41611300 single base substitution C T intron_variant BRCA-FR 12 41612937 41612937 single base substitution C T intron_variant BRCA-FR 12 41612994 41612994 single base substitution G A intron_variant BRCA-FR 12 41626254 41626254 single base substitution C T intron_variant BRCA-FR 12 41634929 41634929 single base substitution T A intron_variant BRCA-FR 12 41639343 41639343 single base substitution G C intron_variant BRCA-FR 12 41639681 41639681 single base substitution C T intron_variant BRCA-FR 12 41644579 41644579 single base substitution C A intron_variant BRCA-FR 12 41649795 41649795 single base substitution A G intron_variant BRCA-FR 12 41654847 41654847 single base substitution G A intron_variant BRCA-FR 12 41685632 41685632 single base substitution C T intron_variant BRCA-FR 12 41687906 41687906 single base substitution A G intron_variant BRCA-FR 12 41702139 41702139 single base substitution G C intron_variant BRCA-FR 12 41715980 41715980 single base substitution C T intron_variant BRCA-FR 12 41727781 41727781 single base substitution C T intron_variant BRCA-FR 12 41727969 41727969 single base substitution C A intron_variant BRCA-FR 12 41734841 41734841 single base substitution A G intron_variant BRCA-FR 12 41742577 41742577 single base substitution C T intron_variant BRCA-FR 12 41745937 41745937 single base substitution G A intron_variant BRCA-FR 12 41752273 41752273 single base substitution A T intron_variant BRCA-FR 12 41760271 41760271 single base substitution T A intron_variant BRCA-FR 12 41761407 41761407 single base substitution C G intron_variant BRCA-FR 12 41762053 41762053 single base substitution C T intron_variant BRCA-FR 12 41763791 41763791 single base substitution G C intron_variant BRCA-FR 12 41765960 41765960 single base substitution G C intron_variant BRCA-FR 12 41766996 41766996 single base substitution G A intron_variant BRCA-FR 12 41771173 41771173 single base substitution T C intron_variant BRCA-FR 12 41772591 41772591 single base substitution C T intron_variant BRCA-FR 12 41776781 41776781 single base substitution G A intron_variant BRCA-FR 12 41791058 41791058 single base substitution C T intron_variant BRCA-FR 12 41794405 41794405 single base substitution C T intron_variant BRCA-FR 12 41803178 41803178 single base substitution C G intron_variant BRCA-FR 12 41807494 41807494 single base substitution G A intron_variant BRCA-FR 12 41814194 41814194 single base substitution C T intron_variant BRCA-FR 12 41814352 41814352 single base substitution C G intron_variant BRCA-FR 12 41814871 41814871 single base substitution C G intron_variant BRCA-FR 12 41816306 41816306 single base substitution G T intron_variant BRCA-FR 12 41816315 41816315 single base substitution G A intron_variant BRCA-FR 12 41818564 41818564 single base substitution G A intron_variant BRCA-FR 12 41822442 41822442 single base substitution A T intron_variant BRCA-FR 12 41824068 41824068 single base substitution G A intron_variant BRCA-FR 12 41827433 41827433 single base substitution G C intron_variant BRCA-FR 12 41827433 41827433 single base substitution G C upstream_gene_variant BRCA-FR 12 41828748 41828748 single base substitution G T intron_variant BRCA-FR 12 41828748 41828748 single base substitution G T upstream_gene_variant BRCA-FR 12 41833336 41833336 single base substitution T A intron_variant BRCA-FR 12 41844334 41844334 single base substitution G A intron_variant BRCA-FR 12 41850203 41850203 single base substitution G C intron_variant BRCA-FR 12 41852131 41852131 single base substitution G A intron_variant BRCA-FR 12 41853975 41853975 single base substitution G A intron_variant BRCA-FR 12 41854558 41854558 single base substitution C T intron_variant BRCA-FR 12 41855026 41855026 single base substitution C G intron_variant BRCA-FR 12 41874239 41874239 single base substitution G C intron_variant BRCA-FR 12 41893597 41893597 single base substitution G C intron_variant BRCA-FR 12 41894299 41894299 single base substitution C G intron_variant BRCA-FR 12 41898053 41898053 single base substitution G C intron_variant BRCA-FR 12 41910935 41910935 single base substitution T C intron_variant BRCA-FR 12 41912477 41912477 single base substitution C A intron_variant BRCA-FR 12 41914017 41914017 single base substitution A G intron_variant BRCA-FR 12 41914577 41914577 single base substitution T A intron_variant BRCA-FR 12 41917178 41917178 single base substitution G C intron_variant BRCA-FR 12 41917668 41917668 single base substitution C A intron_variant BRCA-FR 12 41918701 41918701 single base substitution A G intron_variant BRCA-FR 12 41927392 41927392 single base substitution G A intron_variant BRCA-FR 12 41929156 41929156 single base substitution G A intron_variant BRCA-FR 12 41931372 41931372 single base substitution G C intron_variant BRCA-FR 12 41939604 41939604 single base substitution T C intron_variant BRCA-FR 12 41940876 41940876 single base substitution C T intron_variant BRCA-FR 12 41942771 41942771 single base substitution G C intron_variant BRCA-FR 12 41954697 41954697 single base substitution G A intron_variant BRCA-FR 12 41955738 41955738 single base substitution A C intron_variant BRCA-FR 12 41958624 41958624 single base substitution A T intron_variant BRCA-FR 12 41967191 41967191 single base substitution C T exon_variant BRCA-FR 12 41967191 41967191 single base substitution C T synonymous_variant L610L 1830C>T BRCA-FR 12 41967191 41967191 single base substitution C T synonymous_variant L612L 1836C>T BRCA-FR 12 41967191 41967191 single base substitution C T synonymous_variant L870L 2610C>T BRCA-FR 12 41967657 41967657 single base substitution G T exon_variant BRCA-FR 12 41967657 41967657 single base substitution G T missense_variant V1026F 3076G>T BRCA-FR 12 41967657 41967657 single base substitution G T missense_variant V766F 2296G>T BRCA-FR 12 41967657 41967657 single base substitution G T missense_variant V768F 2302G>T BRCA-FR 12 41968835 41968835 single base substitution T A downstream_gene_variant BRCA-FR 12 41969098 41969098 single base substitution T G downstream_gene_variant BRCA-UK 12 41609248 41609248 single base substitution G A intron_variant BRCA-UK 12 41621196 41621196 single base substitution G C intron_variant BRCA-UK 12 41629611 41629611 single base substitution T G intron_variant BRCA-UK 12 41639736 41639736 single base substitution G T intron_variant BRCA-UK 12 41664981 41664981 single base substitution G C intron_variant BRCA-UK 12 41669421 41669421 single base substitution T C intron_variant BRCA-UK 12 41682276 41682276 single base substitution C T intron_variant BRCA-UK 12 41702091 41702091 single base substitution A T intron_variant BRCA-UK 12 41706721 41706721 single base substitution C A intron_variant BRCA-UK 12 41730023 41730023 single base substitution G T intron_variant BRCA-UK 12 41733162 41733162 single base substitution C A intron_variant BRCA-UK 12 41736285 41736285 single base substitution A G intron_variant BRCA-UK 12 41760979 41760979 single base substitution C G intron_variant BRCA-UK 12 41767208 41767208 single base substitution G A intron_variant BRCA-UK 12 41790663 41790663 single base substitution G A intron_variant BRCA-UK 12 41803096 41803096 single base substitution A C intron_variant BRCA-UK 12 41835076 41835076 single base substitution C T intron_variant BRCA-UK 12 41877623 41877623 single base substitution C A intron_variant BRCA-UK 12 41879151 41879151 single base substitution G A intron_variant BRCA-UK 12 41889753 41889753 single base substitution G T intron_variant BRCA-UK 12 41922071 41922071 single base substitution A T intron_variant BRCA-UK 12 41934392 41934392 single base substitution C T intron_variant BRCA-UK 12 41936627 41936627 single base substitution C G intron_variant BRCA-UK 12 41938237 41938237 single base substitution A C intron_variant BRCA-UK 12 41953947 41953947 single base substitution C G intron_variant BRCA-UK 12 41958413 41958413 single base substitution C T intron_variant BRCA-UK 12 41966522 41966522 single base substitution C T exon_variant BRCA-UK 12 41966522 41966522 single base substitution C T synonymous_variant Y387Y 1161C>T BRCA-UK 12 41966522 41966522 single base substitution C T synonymous_variant Y389Y 1167C>T BRCA-UK 12 41966522 41966522 single base substitution C T synonymous_variant Y647Y 1941C>T BRCA-UK 12 41966678 41966678 single base substitution C G exon_variant BRCA-UK 12 41966678 41966678 single base substitution C G missense_variant I439M 1317C>G BRCA-UK 12 41966678 41966678 single base substitution C G missense_variant I441M 1323C>G BRCA-UK 12 41966678 41966678 single base substitution C G missense_variant I699M 2097C>G BRCA-UK 12 41970656 41970656 single base substitution G A downstream_gene_variant BRCA-US 12 41961629 41961629 single base substitution G A exon_variant BRCA-US 12 41961629 41961629 single base substitution G A synonymous_variant E244E 732G>A BRCA-US 12 41961629 41961629 single base substitution G A synonymous_variant E246E 738G>A BRCA-US 12 41961629 41961629 single base substitution G A synonymous_variant E504E 1512G>A BRCA-US 12 41961642 41961642 single base substitution G A exon_variant BRCA-US 12 41961642 41961642 single base substitution G A missense_variant E249K 745G>A BRCA-US 12 41961642 41961642 single base substitution G A missense_variant E251K 751G>A BRCA-US 12 41961642 41961642 single base substitution G A missense_variant E509K 1525G>A BRCA-US 12 41966376 41966376 single base substitution G A exon_variant BRCA-US 12 41966376 41966376 single base substitution G A missense_variant E339K 1015G>A BRCA-US 12 41966376 41966376 single base substitution G A missense_variant E341K 1021G>A BRCA-US 12 41966376 41966376 single base substitution G A missense_variant E599K 1795G>A BRCA-US 12 41966546 41966546 single base substitution T A exon_variant BRCA-US 12 41966546 41966546 single base substitution T A missense_variant N395K 1185T>A BRCA-US 12 41966546 41966546 single base substitution T A missense_variant N397K 1191T>A BRCA-US 12 41966546 41966546 single base substitution T A missense_variant N655K 1965T>A BRCA-US 12 41967119 41967119 single base substitution C T exon_variant BRCA-US 12 41967119 41967119 single base substitution C T synonymous_variant H586H 1758C>T BRCA-US 12 41967119 41967119 single base substitution C T synonymous_variant H588H 1764C>T BRCA-US 12 41967119 41967119 single base substitution C T synonymous_variant H846H 2538C>T BRCA-US 12 41967239 41967239 single base substitution G A exon_variant BRCA-US 12 41967239 41967239 single base substitution G A synonymous_variant K626K 1878G>A BRCA-US 12 41967239 41967239 single base substitution G A synonymous_variant K628K 1884G>A BRCA-US 12 41967239 41967239 single base substitution G A synonymous_variant K886K 2658G>A BRCA-US 12 41967406 41967406 single base substitution G T exon_variant BRCA-US 12 41967406 41967406 single base substitution G T missense_variant S682I 2045G>T BRCA-US 12 41967406 41967406 single base substitution G T missense_variant S684I 2051G>T BRCA-US 12 41967406 41967406 single base substitution G T missense_variant S942I 2825G>T BTCA-JP 12 41582619 41582619 single base substitution G A missense_variant G121E 362G>A BTCA-JP 12 41582689 41582689 single base substitution C G synonymous_variant G144G 432C>G BTCA-JP 12 41585437 41585437 single base substitution C G intron_variant BTCA-JP 12 41587972 41587972 single base substitution T C synonymous_variant I275I 825T>C BTCA-JP 12 41831725 41831726 deletion of <=200bp CT - 5_prime_UTR_variant BTCA-JP 12 41831725 41831726 deletion of <=200bp CT - intron_variant BTCA-JP 12 41831874 41831874 single base substitution C T intron_variant BTCA-JP 12 41900197 41900197 single base substitution C G intron_variant BTCA-JP 12 41900197 41900197 single base substitution C G upstream_gene_variant BTCA-JP 12 41949344 41949344 single base substitution C A intron_variant BTCA-JP 12 41967708 41967708 single base substitution G A 3_prime_UTR_variant BTCA-JP 12 41967708 41967708 single base substitution G A exon_variant CESC-US 12 41582515 41582515 single base substitution C T synonymous_variant R86R 258C>T CESC-US 12 41867287 41867287 single base substitution G T intron_variant CESC-US 12 41871723 41871723 single base substitution G C intron_variant CESC-US 12 41871723 41871723 single base substitution G C splice_donor_variant CESC-US 12 41961654 41961654 single base substitution G A exon_variant CESC-US 12 41961654 41961654 single base substitution G A missense_variant E253K 757G>A CESC-US 12 41961654 41961654 single base substitution G A missense_variant E255K 763G>A CESC-US 12 41961654 41961654 single base substitution G A missense_variant E513K 1537G>A CESC-US 12 41966808 41966808 single base substitution G A exon_variant CESC-US 12 41966808 41966808 single base substitution G A missense_variant E483K 1447G>A CESC-US 12 41966808 41966808 single base substitution G A missense_variant E485K 1453G>A CESC-US 12 41966808 41966808 single base substitution G A missense_variant E743K 2227G>A CESC-US 12 41966994 41966994 single base substitution G A exon_variant CESC-US 12 41966994 41966994 single base substitution G A missense_variant E545K 1633G>A CESC-US 12 41966994 41966994 single base substitution G A missense_variant E547K 1639G>A CESC-US 12 41966994 41966994 single base substitution G A missense_variant E805K 2413G>A CESC-US 12 41967170 41967170 single base substitution C T exon_variant CESC-US 12 41967170 41967170 single base substitution C T synonymous_variant V603V 1809C>T CESC-US 12 41967170 41967170 single base substitution C T synonymous_variant V605V 1815C>T CESC-US 12 41967170 41967170 single base substitution C T synonymous_variant V863V 2589C>T CLLE-ES 12 41590371 41590371 single base substitution T A intron_variant CLLE-ES 12 41592537 41592537 single base substitution A T intron_variant CLLE-ES 12 41595994 41595994 single base substitution G A intron_variant CLLE-ES 12 41610995 41610995 single base substitution A T intron_variant CLLE-ES 12 41635268 41635268 single base substitution G C intron_variant CLLE-ES 12 41640468 41640468 single base substitution C T intron_variant CLLE-ES 12 41647829 41647829 single base substitution G A intron_variant CLLE-ES 12 41655948 41655948 single base substitution G A intron_variant CLLE-ES 12 41668288 41668288 single base substitution T C intron_variant CLLE-ES 12 41669648 41669648 single base substitution A G intron_variant CLLE-ES 12 41677990 41677990 deletion of <=200bp G - intron_variant CLLE-ES 12 41689999 41689999 single base substitution A G intron_variant CLLE-ES 12 41693913 41693913 single base substitution T C intron_variant CLLE-ES 12 41727149 41727149 single base substitution C T intron_variant CLLE-ES 12 41733666 41733666 single base substitution T A intron_variant CLLE-ES 12 41734447 41734447 single base substitution C A intron_variant CLLE-ES 12 41734521 41734521 single base substitution A G intron_variant CLLE-ES 12 41736588 41736588 single base substitution A T intron_variant CLLE-ES 12 41755463 41755463 single base substitution A G intron_variant CLLE-ES 12 41762853 41762853 single base substitution C T intron_variant CLLE-ES 12 41764461 41764461 single base substitution G A intron_variant CLLE-ES 12 41765790 41765790 single base substitution C T intron_variant CLLE-ES 12 41766140 41766140 single base substitution A G intron_variant CLLE-ES 12 41772276 41772276 single base substitution A C intron_variant CLLE-ES 12 41779961 41779961 single base substitution A T intron_variant CLLE-ES 12 41780577 41780577 single base substitution A T intron_variant CLLE-ES 12 41800805 41800805 single base substitution C A intron_variant CLLE-ES 12 41808452 41808452 single base substitution T C intron_variant CLLE-ES 12 41809846 41809846 single base substitution G A intron_variant CLLE-ES 12 41814559 41814562 deletion of <=200bp TCTA - intron_variant CLLE-ES 12 41815515 41815515 single base substitution T C intron_variant CLLE-ES 12 41820692 41820692 single base substitution C A intron_variant CLLE-ES 12 41821461 41821461 single base substitution C G intron_variant CLLE-ES 12 41839527 41839527 single base substitution T G intron_variant CLLE-ES 12 41844452 41844452 single base substitution C T intron_variant CLLE-ES 12 41848418 41848418 single base substitution C T intron_variant CLLE-ES 12 41849911 41849911 single base substitution T C intron_variant CLLE-ES 12 41851761 41851761 single base substitution A G intron_variant CLLE-ES 12 41853631 41853631 single base substitution A T intron_variant CLLE-ES 12 41867454 41867454 single base substitution T C intron_variant CLLE-ES 12 41905907 41905907 single base substitution C T intron_variant CLLE-ES 12 41907042 41907042 single base substitution T C intron_variant CLLE-ES 12 41909902 41909902 single base substitution C T intron_variant CLLE-ES 12 41947550 41947550 single base substitution T A intron_variant CLLE-ES 12 41947988 41947988 single base substitution G C intron_variant CLLE-ES 12 41948803 41948803 single base substitution G A intron_variant CLLE-ES 12 41957153 41957153 single base substitution A G intron_variant CLLE-ES 12 41957213 41957213 single base substitution G T intron_variant CLLE-ES 12 41968715 41968715 single base substitution T C downstream_gene_variant CLLE-ES 12 41971090 41971090 single base substitution C T downstream_gene_variant COAD-US 12 41900435 41900435 single base substitution G A missense_variant E341K 1021G>A COAD-US 12 41900435 41900435 single base substitution G A missense_variant E81K 241G>A COAD-US 12 41900435 41900435 single base substitution G A missense_variant E83K 247G>A COAD-US 12 41900435 41900435 single base substitution G A upstream_gene_variant COAD-US 12 41946464 41946464 single base substitution G C exon_variant COAD-US 12 41946464 41946464 single base substitution G C missense_variant E144Q 430G>C COAD-US 12 41946464 41946464 single base substitution G C missense_variant E146Q 436G>C COAD-US 12 41946464 41946464 single base substitution G C missense_variant E404Q 1210G>C COAD-US 12 41949529 41949529 single base substitution C T exon_variant COAD-US 12 41949529 41949529 single base substitution C T synonymous_variant D184D 552C>T COAD-US 12 41949529 41949529 single base substitution C T synonymous_variant D186D 558C>T COAD-US 12 41949529 41949529 single base substitution C T synonymous_variant D444D 1332C>T COAD-US 12 41957374 41957374 single base substitution C T exon_variant COAD-US 12 41957374 41957374 single base substitution C T stop_gained R204* 610C>T COAD-US 12 41957374 41957374 single base substitution C T stop_gained R206* 616C>T COAD-US 12 41957374 41957374 single base substitution C T stop_gained R464* 1390C>T COAD-US 12 41961603 41961603 single base substitution G C exon_variant COAD-US 12 41961603 41961603 single base substitution G C missense_variant E236Q 706G>C COAD-US 12 41961603 41961603 single base substitution G C missense_variant E238Q 712G>C COAD-US 12 41961603 41961603 single base substitution G C missense_variant E496Q 1486G>C COAD-US 12 41961654 41961654 single base substitution G T exon_variant COAD-US 12 41961654 41961654 single base substitution G T stop_gained E253* 757G>T COAD-US 12 41961654 41961654 single base substitution G T stop_gained E255* 763G>T COAD-US 12 41961654 41961654 single base substitution G T stop_gained E513* 1537G>T COAD-US 12 41966259 41966259 single base substitution G T exon_variant COAD-US 12 41966259 41966259 single base substitution G T stop_gained E300* 898G>T COAD-US 12 41966259 41966259 single base substitution G T stop_gained E302* 904G>T COAD-US 12 41966259 41966259 single base substitution G T stop_gained E560* 1678G>T COAD-US 12 41966268 41966268 single base substitution C T exon_variant COAD-US 12 41966268 41966268 single base substitution C T stop_gained R303* 907C>T COAD-US 12 41966268 41966268 single base substitution C T stop_gained R305* 913C>T COAD-US 12 41966268 41966268 single base substitution C T stop_gained R563* 1687C>T COAD-US 12 41966269 41966269 single base substitution G A exon_variant COAD-US 12 41966269 41966269 single base substitution G A missense_variant R303Q 908G>A COAD-US 12 41966269 41966269 single base substitution G A missense_variant R305Q 914G>A COAD-US 12 41966269 41966269 single base substitution G A missense_variant R563Q 1688G>A COAD-US 12 41966450 41966450 single base substitution C A exon_variant COAD-US 12 41966450 41966450 single base substitution C A missense_variant D363E 1089C>A COAD-US 12 41966450 41966450 single base substitution C A missense_variant D365E 1095C>A COAD-US 12 41966450 41966450 single base substitution C A missense_variant D623E 1869C>A COAD-US 12 41966554 41966554 single base substitution A G exon_variant COAD-US 12 41966554 41966554 single base substitution A G missense_variant E398G 1193A>G COAD-US 12 41966554 41966554 single base substitution A G missense_variant E400G 1199A>G COAD-US 12 41966554 41966554 single base substitution A G missense_variant E658G 1973A>G COAD-US 12 41966785 41966785 single base substitution G T exon_variant COAD-US 12 41966785 41966785 single base substitution G T missense_variant S475I 1424G>T COAD-US 12 41966785 41966785 single base substitution G T missense_variant S477I 1430G>T COAD-US 12 41966785 41966785 single base substitution G T missense_variant S735I 2204G>T COAD-US 12 41967022 41967022 single base substitution G T exon_variant COAD-US 12 41967022 41967022 single base substitution G T missense_variant S554I 1661G>T COAD-US 12 41967022 41967022 single base substitution G T missense_variant S556I 1667G>T COAD-US 12 41967022 41967022 single base substitution G T missense_variant S814I 2441G>T COAD-US 12 41967381 41967381 single base substitution G A exon_variant COAD-US 12 41967381 41967381 single base substitution G A missense_variant E674K 2020G>A COAD-US 12 41967381 41967381 single base substitution G A missense_variant E676K 2026G>A COAD-US 12 41967381 41967381 single base substitution G A missense_variant E934K 2800G>A COAD-US 12 41967677 41967677 single base substitution G A exon_variant COAD-US 12 41967677 41967677 single base substitution G A synonymous_variant S1032S 3096G>A COAD-US 12 41967677 41967677 single base substitution G A synonymous_variant S772S 2316G>A COAD-US 12 41967677 41967677 single base substitution G A synonymous_variant S774S 2322G>A COCA-CN 12 41582199 41582199 single base substitution A G upstream_gene_variant COCA-CN 12 41582940 41582940 single base substitution C T intron_variant COCA-CN 12 41595321 41595321 single base substitution C T intron_variant COCA-CN 12 41614571 41614571 single base substitution A C intron_variant COCA-CN 12 41628608 41628608 single base substitution T G intron_variant COCA-CN 12 41630725 41630725 single base substitution A G intron_variant COCA-CN 12 41647829 41647829 single base substitution G A intron_variant COCA-CN 12 41647838 41647838 single base substitution T C intron_variant COCA-CN 12 41664115 41664115 single base substitution T G intron_variant COCA-CN 12 41674149 41674149 single base substitution G A intron_variant COCA-CN 12 41677232 41677232 single base substitution G T intron_variant COCA-CN 12 41678319 41678319 single base substitution A C intron_variant COCA-CN 12 41682919 41682919 single base substitution G T intron_variant COCA-CN 12 41685052 41685052 single base substitution C G intron_variant COCA-CN 12 41688173 41688173 single base substitution C G intron_variant COCA-CN 12 41700282 41700282 single base substitution C A intron_variant COCA-CN 12 41701240 41701240 single base substitution C T intron_variant COCA-CN 12 41706956 41706956 single base substitution C T intron_variant COCA-CN 12 41721582 41721582 single base substitution C T intron_variant COCA-CN 12 41726005 41726005 single base substitution T C intron_variant COCA-CN 12 41742798 41742798 single base substitution T C intron_variant COCA-CN 12 41757804 41757804 single base substitution G T intron_variant COCA-CN 12 41783206 41783206 single base substitution G T intron_variant COCA-CN 12 41796914 41796914 single base substitution G T intron_variant COCA-CN 12 41801515 41801515 single base substitution A G intron_variant COCA-CN 12 41813005 41813005 single base substitution G C intron_variant COCA-CN 12 41817180 41817180 single base substitution A G intron_variant COCA-CN 12 41831725 41831725 insertion of <=200bp - CT 5_prime_UTR_variant COCA-CN 12 41831725 41831725 insertion of <=200bp - CT intron_variant COCA-CN 12 41842432 41842432 single base substitution C G intron_variant COCA-CN 12 41850379 41850379 single base substitution G C intron_variant COCA-CN 12 41851196 41851196 single base substitution C T intron_variant COCA-CN 12 41853677 41853677 single base substitution A T intron_variant COCA-CN 12 41854859 41854859 single base substitution C T intron_variant COCA-CN 12 41859549 41859549 single base substitution G A intron_variant COCA-CN 12 41871651 41871651 single base substitution T C intron_variant COCA-CN 12 41871808 41871808 single base substitution C T intron_variant COCA-CN 12 41872676 41872676 single base substitution T G intron_variant COCA-CN 12 41883615 41883615 single base substitution G C intron_variant COCA-CN 12 41886326 41886326 single base substitution T G intron_variant COCA-CN 12 41891327 41891327 single base substitution T A intron_variant COCA-CN 12 41903506 41903506 single base substitution G T exon_variant COCA-CN 12 41903506 41903506 single base substitution G T intron_variant COCA-CN 12 41912231 41912231 single base substitution A T intron_variant COCA-CN 12 41921109 41921109 single base substitution T C intron_variant COCA-CN 12 41926733 41926733 single base substitution T A intron_variant COCA-CN 12 41949363 41949363 single base substitution G T intron_variant COCA-CN 12 41949370 41949370 single base substitution T G intron_variant COCA-CN 12 41949529 41949529 single base substitution C T exon_variant COCA-CN 12 41949529 41949529 single base substitution C T synonymous_variant D184D 552C>T COCA-CN 12 41949529 41949529 single base substitution C T synonymous_variant D186D 558C>T COCA-CN 12 41949529 41949529 single base substitution C T synonymous_variant D444D 1332C>T COCA-CN 12 41949682 41949682 single base substitution C A intron_variant COCA-CN 12 41949732 41949732 single base substitution C T intron_variant COCA-CN 12 41962908 41962908 single base substitution C A intron_variant COCA-CN 12 41965176 41965176 single base substitution T A intron_variant COCA-CN 12 41965178 41965178 single base substitution T A intron_variant COCA-CN 12 41965184 41965184 single base substitution A T intron_variant COCA-CN 12 41966133 41966133 single base substitution A C intron_variant COCA-CN 12 41966145 41966145 single base substitution C A intron_variant COCA-CN 12 41966378 41966378 single base substitution A G exon_variant COCA-CN 12 41966378 41966378 single base substitution A G synonymous_variant E339E 1017A>G COCA-CN 12 41966378 41966378 single base substitution A G synonymous_variant E341E 1023A>G COCA-CN 12 41966378 41966378 single base substitution A G synonymous_variant E599E 1797A>G COCA-CN 12 41966396 41966396 single base substitution C T exon_variant COCA-CN 12 41966396 41966396 single base substitution C T synonymous_variant S345S 1035C>T COCA-CN 12 41966396 41966396 single base substitution C T synonymous_variant S347S 1041C>T COCA-CN 12 41966396 41966396 single base substitution C T synonymous_variant S605S 1815C>T COCA-CN 12 41966530 41966530 single base substitution G A exon_variant COCA-CN 12 41966530 41966530 single base substitution G A missense_variant S390N 1169G>A COCA-CN 12 41966530 41966530 single base substitution G A missense_variant S392N 1175G>A COCA-CN 12 41966530 41966530 single base substitution G A missense_variant S650N 1949G>A COCA-CN 12 41966622 41966622 single base substitution C A exon_variant COCA-CN 12 41966622 41966622 single base substitution C A missense_variant Q421K 1261C>A COCA-CN 12 41966622 41966622 single base substitution C A missense_variant Q423K 1267C>A COCA-CN 12 41966622 41966622 single base substitution C A missense_variant Q681K 2041C>A COCA-CN 12 41966991 41966991 single base substitution G A exon_variant COCA-CN 12 41966991 41966991 single base substitution G A missense_variant A544T 1630G>A COCA-CN 12 41966991 41966991 single base substitution G A missense_variant A546T 1636G>A COCA-CN 12 41966991 41966991 single base substitution G A missense_variant A804T 2410G>A COCA-CN 12 41966994 41966994 single base substitution G T exon_variant COCA-CN 12 41966994 41966994 single base substitution G T stop_gained E545* 1633G>T COCA-CN 12 41966994 41966994 single base substitution G T stop_gained E547* 1639G>T COCA-CN 12 41966994 41966994 single base substitution G T stop_gained E805* 2413G>T COCA-CN 12 41967170 41967170 single base substitution C T exon_variant COCA-CN 12 41967170 41967170 single base substitution C T synonymous_variant V603V 1809C>T COCA-CN 12 41967170 41967170 single base substitution C T synonymous_variant V605V 1815C>T COCA-CN 12 41967170 41967170 single base substitution C T synonymous_variant V863V 2589C>T COCA-CN 12 41967238 41967238 single base substitution A G exon_variant COCA-CN 12 41967238 41967238 single base substitution A G missense_variant K626R 1877A>G COCA-CN 12 41967238 41967238 single base substitution A G missense_variant K628R 1883A>G COCA-CN 12 41967238 41967238 single base substitution A G missense_variant K886R 2657A>G COCA-CN 12 41967276 41967276 single base substitution C T exon_variant COCA-CN 12 41967276 41967276 single base substitution C T missense_variant R639W 1915C>T COCA-CN 12 41967276 41967276 single base substitution C T missense_variant R641W 1921C>T COCA-CN 12 41967276 41967276 single base substitution C T missense_variant R899W 2695C>T COCA-CN 12 41967457 41967457 single base substitution G A exon_variant COCA-CN 12 41967457 41967457 single base substitution G A missense_variant R699H 2096G>A COCA-CN 12 41967457 41967457 single base substitution G A missense_variant R701H 2102G>A COCA-CN 12 41967457 41967457 single base substitution G A missense_variant R959H 2876G>A COCA-CN 12 41967553 41967553 single base substitution G A exon_variant COCA-CN 12 41967553 41967553 single base substitution G A missense_variant S731N 2192G>A COCA-CN 12 41967553 41967553 single base substitution G A missense_variant S733N 2198G>A COCA-CN 12 41967553 41967553 single base substitution G A missense_variant S991N 2972G>A COCA-CN 12 41967626 41967626 single base substitution C T exon_variant COCA-CN 12 41967626 41967626 single base substitution C T synonymous_variant T1015T 3045C>T COCA-CN 12 41967626 41967626 single base substitution C T synonymous_variant T755T 2265C>T COCA-CN 12 41967626 41967626 single base substitution C T synonymous_variant T757T 2271C>T COCA-CN 12 41967811 41967811 single base substitution A T 3_prime_UTR_variant COCA-CN 12 41967811 41967811 single base substitution A T exon_variant EOPC-DE 12 41594368 41594368 single base substitution C T intron_variant EOPC-DE 12 41632119 41632119 single base substitution C T intron_variant EOPC-DE 12 41653702 41653702 single base substitution A T intron_variant EOPC-DE 12 41761451 41761451 single base substitution C A intron_variant EOPC-DE 12 41789301 41789301 single base substitution G T intron_variant EOPC-DE 12 41795615 41795615 single base substitution C T intron_variant EOPC-DE 12 41804675 41804675 single base substitution T G intron_variant EOPC-DE 12 41826454 41826454 single base substitution T G intron_variant EOPC-DE 12 41835685 41835685 single base substitution T C intron_variant EOPC-DE 12 41844764 41844764 single base substitution C G intron_variant EOPC-DE 12 41882815 41882815 single base substitution G C intron_variant ESAD-UK 12 41577354 41577354 single base substitution T C upstream_gene_variant ESAD-UK 12 41578066 41578066 single base substitution G T upstream_gene_variant ESAD-UK 12 41578072 41578072 single base substitution T A upstream_gene_variant ESAD-UK 12 41578208 41578208 single base substitution T C upstream_gene_variant ESAD-UK 12 41578223 41578223 single base substitution T C upstream_gene_variant ESAD-UK 12 41578349 41578349 single base substitution A C upstream_gene_variant ESAD-UK 12 41578408 41578408 single base substitution C G upstream_gene_variant ESAD-UK 12 41578420 41578420 single base substitution A G upstream_gene_variant ESAD-UK 12 41578466 41578466 single base substitution A C upstream_gene_variant ESAD-UK 12 41578758 41578758 single base substitution T G upstream_gene_variant ESAD-UK 12 41578877 41578877 single base substitution T G upstream_gene_variant ESAD-UK 12 41578912 41578912 single base substitution C T upstream_gene_variant ESAD-UK 12 41579518 41579518 single base substitution A C upstream_gene_variant ESAD-UK 12 41579567 41579567 single base substitution C A upstream_gene_variant ESAD-UK 12 41579749 41579749 single base substitution T G upstream_gene_variant ESAD-UK 12 41579957 41579957 single base substitution A C upstream_gene_variant ESAD-UK 12 41580016 41580016 single base substitution T G upstream_gene_variant ESAD-UK 12 41580027 41580027 single base substitution T C upstream_gene_variant ESAD-UK 12 41580508 41580508 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 41581426 41581426 single base substitution A C upstream_gene_variant ESAD-UK 12 41581563 41581563 single base substitution T A upstream_gene_variant ESAD-UK 12 41582088 41582088 single base substitution G A upstream_gene_variant ESAD-UK 12 41582370 41582370 single base substitution G A missense_variant C38Y 113G>A ESAD-UK 12 41582471 41582471 single base substitution A G missense_variant S72G 214A>G ESAD-UK 12 41582929 41582929 single base substitution G A intron_variant ESAD-UK 12 41583213 41583213 single base substitution T C intron_variant ESAD-UK 12 41583245 41583245 single base substitution T C intron_variant ESAD-UK 12 41583487 41583487 single base substitution A G intron_variant ESAD-UK 12 41583501 41583501 single base substitution T G intron_variant ESAD-UK 12 41583534 41583534 single base substitution T G intron_variant ESAD-UK 12 41583811 41583811 single base substitution T G intron_variant ESAD-UK 12 41583852 41583852 single base substitution G A intron_variant ESAD-UK 12 41584193 41584193 single base substitution G T intron_variant ESAD-UK 12 41584291 41584291 single base substitution A C intron_variant ESAD-UK 12 41585201 41585201 single base substitution G T intron_variant ESAD-UK 12 41585336 41585336 single base substitution G A missense_variant R242Q 725G>A ESAD-UK 12 41585455 41585455 single base substitution G A intron_variant ESAD-UK 12 41585627 41585627 single base substitution C A intron_variant ESAD-UK 12 41585954 41585954 single base substitution C A intron_variant ESAD-UK 12 41586007 41586007 single base substitution T C intron_variant ESAD-UK 12 41587513 41587513 insertion of <=200bp - T intron_variant ESAD-UK 12 41587539 41587539 single base substitution C G intron_variant ESAD-UK 12 41588101 41588101 single base substitution T C intron_variant ESAD-UK 12 41588280 41588280 single base substitution A G intron_variant ESAD-UK 12 41588417 41588417 single base substitution C T intron_variant ESAD-UK 12 41588522 41588522 single base substitution A C intron_variant ESAD-UK 12 41588766 41588766 single base substitution G T intron_variant ESAD-UK 12 41589767 41589767 single base substitution C A intron_variant ESAD-UK 12 41590025 41590025 single base substitution A C intron_variant ESAD-UK 12 41590167 41590167 single base substitution T C intron_variant ESAD-UK 12 41591406 41591406 single base substitution G T intron_variant ESAD-UK 12 41591508 41591508 single base substitution A C intron_variant ESAD-UK 12 41591843 41591843 single base substitution A C intron_variant ESAD-UK 12 41591843 41591843 single base substitution A T intron_variant ESAD-UK 12 41591885 41591885 single base substitution T C intron_variant ESAD-UK 12 41593114 41593114 single base substitution T C intron_variant ESAD-UK 12 41593186 41593186 single base substitution A C intron_variant ESAD-UK 12 41593476 41593476 single base substitution G T intron_variant ESAD-UK 12 41593692 41593692 single base substitution G T intron_variant ESAD-UK 12 41593785 41593785 single base substitution A G intron_variant ESAD-UK 12 41594474 41594474 single base substitution T G intron_variant ESAD-UK 12 41594557 41594557 single base substitution T G intron_variant ESAD-UK 12 41594608 41594608 single base substitution T G intron_variant ESAD-UK 12 41594870 41594870 single base substitution A T intron_variant ESAD-UK 12 41594871 41594871 single base substitution G T intron_variant ESAD-UK 12 41595372 41595372 single base substitution A C intron_variant ESAD-UK 12 41595419 41595419 single base substitution A G intron_variant ESAD-UK 12 41595670 41595670 single base substitution A G intron_variant ESAD-UK 12 41596014 41596014 single base substitution T G intron_variant ESAD-UK 12 41596121 41596121 single base substitution A G intron_variant ESAD-UK 12 41596146 41596146 single base substitution A G intron_variant ESAD-UK 12 41596806 41596806 single base substitution T G intron_variant ESAD-UK 12 41596813 41596813 single base substitution A C intron_variant ESAD-UK 12 41597182 41597182 single base substitution G A intron_variant ESAD-UK 12 41598527 41598527 single base substitution T G intron_variant ESAD-UK 12 41598556 41598556 single base substitution C T intron_variant ESAD-UK 12 41598725 41598725 single base substitution T G intron_variant ESAD-UK 12 41600144 41600144 single base substitution G C intron_variant ESAD-UK 12 41600414 41600414 single base substitution G T intron_variant ESAD-UK 12 41600803 41600803 single base substitution T G intron_variant ESAD-UK 12 41601014 41601014 deletion of <=200bp T - intron_variant ESAD-UK 12 41601299 41601299 single base substitution G T intron_variant ESAD-UK 12 41601703 41601703 single base substitution A C intron_variant ESAD-UK 12 41601921 41601921 single base substitution T C intron_variant ESAD-UK 12 41602453 41602453 deletion of <=200bp T - intron_variant ESAD-UK 12 41602517 41602517 single base substitution C A intron_variant ESAD-UK 12 41602673 41602673 single base substitution T G intron_variant ESAD-UK 12 41602682 41602682 deletion of <=200bp A - intron_variant ESAD-UK 12 41602701 41602701 single base substitution A G intron_variant ESAD-UK 12 41602766 41602766 single base substitution A G intron_variant ESAD-UK 12 41602811 41602811 single base substitution C A intron_variant ESAD-UK 12 41602844 41602844 single base substitution C T intron_variant ESAD-UK 12 41602976 41602976 single base substitution A C intron_variant ESAD-UK 12 41603574 41603574 single base substitution G T intron_variant ESAD-UK 12 41604093 41604093 single base substitution G C intron_variant ESAD-UK 12 41604339 41604339 single base substitution T C intron_variant ESAD-UK 12 41604767 41604767 single base substitution A C intron_variant ESAD-UK 12 41604795 41604795 single base substitution C A intron_variant ESAD-UK 12 41605216 41605216 single base substitution T G intron_variant ESAD-UK 12 41605285 41605285 single base substitution T C intron_variant ESAD-UK 12 41605353 41605353 single base substitution C T intron_variant ESAD-UK 12 41605439 41605439 single base substitution A C intron_variant ESAD-UK 12 41605609 41605609 single base substitution C A intron_variant ESAD-UK 12 41606238 41606238 single base substitution A G intron_variant ESAD-UK 12 41607317 41607317 single base substitution T G intron_variant ESAD-UK 12 41607588 41607588 single base substitution A C intron_variant ESAD-UK 12 41607817 41607817 single base substitution G A intron_variant ESAD-UK 12 41607979 41607979 single base substitution G T intron_variant ESAD-UK 12 41608122 41608122 single base substitution T G intron_variant ESAD-UK 12 41608194 41608194 single base substitution G A intron_variant ESAD-UK 12 41608558 41608558 single base substitution A C intron_variant ESAD-UK 12 41608688 41608688 single base substitution A C intron_variant ESAD-UK 12 41608901 41608901 single base substitution A G intron_variant ESAD-UK 12 41609131 41609131 single base substitution C A intron_variant ESAD-UK 12 41609392 41609392 single base substitution C A intron_variant ESAD-UK 12 41609542 41609542 single base substitution T A intron_variant ESAD-UK 12 41610312 41610312 single base substitution T C intron_variant ESAD-UK 12 41610312 41610312 single base substitution T G intron_variant ESAD-UK 12 41610589 41610589 deletion of <=200bp T - intron_variant ESAD-UK 12 41610915 41610915 single base substitution G A intron_variant ESAD-UK 12 41611155 41611155 single base substitution T A intron_variant ESAD-UK 12 41611251 41611251 single base substitution C A intron_variant ESAD-UK 12 41611369 41611369 single base substitution C T intron_variant ESAD-UK 12 41611512 41611512 single base substitution T C intron_variant ESAD-UK 12 41611875 41611875 single base substitution T G intron_variant ESAD-UK 12 41612341 41612341 single base substitution A C intron_variant ESAD-UK 12 41612409 41612409 single base substitution A C intron_variant ESAD-UK 12 41612478 41612478 single base substitution T A intron_variant ESAD-UK 12 41612497 41612497 single base substitution C A intron_variant ESAD-UK 12 41612534 41612534 single base substitution A C intron_variant ESAD-UK 12 41613338 41613349 deletion of <=200bp CTTGGTAATGTT - intron_variant ESAD-UK 12 41613433 41613433 single base substitution G T intron_variant ESAD-UK 12 41613719 41613719 single base substitution A T intron_variant ESAD-UK 12 41614141 41614141 single base substitution A C intron_variant ESAD-UK 12 41614334 41614334 single base substitution C A intron_variant ESAD-UK 12 41614344 41614344 single base substitution A C intron_variant ESAD-UK 12 41614375 41614375 single base substitution G T intron_variant ESAD-UK 12 41614508 41614508 single base substitution A C intron_variant ESAD-UK 12 41614571 41614571 single base substitution A C intron_variant ESAD-UK 12 41614653 41614653 single base substitution A G intron_variant ESAD-UK 12 41614663 41614663 single base substitution A T intron_variant ESAD-UK 12 41614678 41614678 single base substitution A G intron_variant ESAD-UK 12 41614764 41614764 single base substitution C A intron_variant ESAD-UK 12 41615158 41615158 single base substitution T C intron_variant ESAD-UK 12 41615175 41615175 single base substitution G A intron_variant ESAD-UK 12 41615527 41615527 single base substitution A C intron_variant ESAD-UK 12 41616125 41616125 single base substitution T C intron_variant ESAD-UK 12 41616227 41616227 single base substitution A T intron_variant ESAD-UK 12 41616312 41616312 single base substitution T A intron_variant ESAD-UK 12 41616662 41616662 single base substitution T G intron_variant ESAD-UK 12 41616968 41616968 single base substitution G T intron_variant ESAD-UK 12 41617560 41617560 single base substitution T C intron_variant ESAD-UK 12 41617629 41617629 single base substitution G A intron_variant ESAD-UK 12 41618140 41618140 single base substitution A C intron_variant ESAD-UK 12 41618300 41618300 single base substitution G A intron_variant ESAD-UK 12 41618531 41618531 single base substitution T A intron_variant ESAD-UK 12 41618762 41618762 single base substitution T C intron_variant ESAD-UK 12 41618836 41618836 single base substitution T C intron_variant ESAD-UK 12 41619042 41619042 single base substitution G T intron_variant ESAD-UK 12 41619210 41619210 single base substitution A C intron_variant ESAD-UK 12 41619219 41619219 single base substitution C T intron_variant ESAD-UK 12 41619265 41619265 single base substitution C T intron_variant ESAD-UK 12 41619472 41619472 single base substitution A C intron_variant ESAD-UK 12 41619526 41619526 single base substitution A G intron_variant ESAD-UK 12 41619526 41619526 single base substitution A T intron_variant ESAD-UK 12 41619534 41619534 single base substitution A C intron_variant ESAD-UK 12 41619534 41619534 single base substitution A G intron_variant ESAD-UK 12 41619558 41619558 single base substitution T C intron_variant ESAD-UK 12 41619565 41619565 single base substitution A C intron_variant ESAD-UK 12 41619720 41619720 single base substitution A C intron_variant ESAD-UK 12 41619743 41619743 deletion of <=200bp G - intron_variant ESAD-UK 12 41620104 41620104 insertion of <=200bp - T intron_variant ESAD-UK 12 41620163 41620163 single base substitution T A intron_variant ESAD-UK 12 41620301 41620301 single base substitution G T intron_variant ESAD-UK 12 41620367 41620367 single base substitution G T intron_variant ESAD-UK 12 41620660 41620660 single base substitution A C intron_variant ESAD-UK 12 41620920 41620920 single base substitution T A intron_variant ESAD-UK 12 41621252 41621252 single base substitution A G intron_variant ESAD-UK 12 41621766 41621766 single base substitution T G intron_variant ESAD-UK 12 41622136 41622136 single base substitution A C intron_variant ESAD-UK 12 41622146 41622146 single base substitution A C intron_variant ESAD-UK 12 41622146 41622146 single base substitution A G intron_variant ESAD-UK 12 41622456 41622456 single base substitution A T intron_variant ESAD-UK 12 41622511 41622511 single base substitution T C intron_variant ESAD-UK 12 41623086 41623086 single base substitution G A intron_variant ESAD-UK 12 41623441 41623441 single base substitution A C intron_variant ESAD-UK 12 41623694 41623694 single base substitution T A intron_variant ESAD-UK 12 41623877 41623877 single base substitution A T intron_variant ESAD-UK 12 41623947 41623947 single base substitution C A intron_variant ESAD-UK 12 41624083 41624083 single base substitution T C intron_variant ESAD-UK 12 41624114 41624114 single base substitution T G intron_variant ESAD-UK 12 41624147 41624147 single base substitution T A intron_variant ESAD-UK 12 41624147 41624147 single base substitution T C intron_variant ESAD-UK 12 41624313 41624313 single base substitution T G intron_variant ESAD-UK 12 41624506 41624506 single base substitution A C intron_variant ESAD-UK 12 41624510 41624510 single base substitution T C intron_variant ESAD-UK 12 41624677 41624677 deletion of <=200bp T - intron_variant ESAD-UK 12 41624816 41624816 single base substitution T C intron_variant ESAD-UK 12 41625022 41625022 single base substitution A C intron_variant ESAD-UK 12 41625092 41625092 single base substitution A T intron_variant ESAD-UK 12 41625258 41625258 single base substitution T C intron_variant ESAD-UK 12 41625623 41625623 single base substitution T G intron_variant ESAD-UK 12 41625655 41625655 single base substitution T G intron_variant ESAD-UK 12 41625856 41625856 single base substitution T A intron_variant ESAD-UK 12 41626003 41626003 single base substitution A C intron_variant ESAD-UK 12 41626026 41626026 single base substitution A T intron_variant ESAD-UK 12 41626237 41626237 single base substitution G A intron_variant ESAD-UK 12 41626299 41626299 single base substitution A C intron_variant ESAD-UK 12 41627357 41627357 single base substitution T A intron_variant ESAD-UK 12 41627372 41627372 single base substitution A C intron_variant ESAD-UK 12 41627572 41627572 single base substitution A G intron_variant ESAD-UK 12 41627978 41627978 single base substitution A T intron_variant ESAD-UK 12 41628141 41628141 single base substitution A C intron_variant ESAD-UK 12 41628755 41628755 single base substitution T C intron_variant ESAD-UK 12 41629126 41629126 single base substitution A C intron_variant ESAD-UK 12 41629126 41629126 single base substitution A G intron_variant ESAD-UK 12 41629159 41629159 single base substitution A C intron_variant ESAD-UK 12 41629202 41629202 deletion of <=200bp C - intron_variant ESAD-UK 12 41629203 41629203 single base substitution T C intron_variant ESAD-UK 12 41629275 41629275 single base substitution A G intron_variant ESAD-UK 12 41629329 41629329 single base substitution A G intron_variant ESAD-UK 12 41629600 41629600 single base substitution T C intron_variant ESAD-UK 12 41629873 41629873 single base substitution C T intron_variant ESAD-UK 12 41630635 41630635 single base substitution T C intron_variant ESAD-UK 12 41630683 41630683 single base substitution G A intron_variant ESAD-UK 12 41631407 41631407 single base substitution T A intron_variant ESAD-UK 12 41631449 41631449 single base substitution A C intron_variant ESAD-UK 12 41631660 41631660 single base substitution T G intron_variant ESAD-UK 12 41631730 41631730 single base substitution T G intron_variant ESAD-UK 12 41631853 41631853 single base substitution T A intron_variant ESAD-UK 12 41632402 41632402 single base substitution C T intron_variant ESAD-UK 12 41633296 41633296 single base substitution G T intron_variant ESAD-UK 12 41633606 41633606 single base substitution G C intron_variant ESAD-UK 12 41633697 41633697 single base substitution T G intron_variant ESAD-UK 12 41634224 41634224 single base substitution A C intron_variant ESAD-UK 12 41634551 41634551 single base substitution G A intron_variant ESAD-UK 12 41634874 41634874 single base substitution A G intron_variant ESAD-UK 12 41634909 41634909 single base substitution G A intron_variant ESAD-UK 12 41635686 41635686 single base substitution A G intron_variant ESAD-UK 12 41635918 41635918 single base substitution C A intron_variant ESAD-UK 12 41635939 41635939 single base substitution G C intron_variant ESAD-UK 12 41635944 41635944 single base substitution A T intron_variant ESAD-UK 12 41635963 41635963 single base substitution A G intron_variant ESAD-UK 12 41636182 41636182 single base substitution G T intron_variant ESAD-UK 12 41636736 41636736 single base substitution T C intron_variant ESAD-UK 12 41637189 41637189 single base substitution A G intron_variant ESAD-UK 12 41637189 41637189 single base substitution A T intron_variant ESAD-UK 12 41637515 41637515 single base substitution T C intron_variant ESAD-UK 12 41637574 41637574 single base substitution G T intron_variant ESAD-UK 12 41638013 41638013 single base substitution C G intron_variant ESAD-UK 12 41638956 41638956 single base substitution T A intron_variant ESAD-UK 12 41639275 41639275 insertion of <=200bp - A intron_variant ESAD-UK 12 41639439 41639439 single base substitution T C intron_variant ESAD-UK 12 41639490 41639490 deletion of <=200bp A - intron_variant ESAD-UK 12 41640268 41640268 single base substitution T G intron_variant ESAD-UK 12 41640548 41640548 single base substitution A G intron_variant ESAD-UK 12 41640560 41640560 single base substitution T C intron_variant ESAD-UK 12 41640560 41640560 single base substitution T G intron_variant ESAD-UK 12 41640618 41640618 single base substitution A G intron_variant ESAD-UK 12 41640618 41640618 single base substitution A T intron_variant ESAD-UK 12 41640623 41640623 single base substitution A C intron_variant ESAD-UK 12 41640753 41640753 single base substitution G A intron_variant ESAD-UK 12 41641355 41641355 single base substitution G A intron_variant ESAD-UK 12 41641425 41641425 single base substitution A G intron_variant ESAD-UK 12 41641434 41641434 single base substitution T C intron_variant ESAD-UK 12 41642086 41642086 single base substitution T A intron_variant ESAD-UK 12 41642086 41642086 single base substitution T G intron_variant ESAD-UK 12 41642103 41642103 single base substitution T A intron_variant ESAD-UK 12 41642291 41642291 single base substitution A G intron_variant ESAD-UK 12 41643522 41643522 single base substitution T C intron_variant ESAD-UK 12 41643728 41643728 single base substitution A C intron_variant ESAD-UK 12 41643730 41643730 single base substitution T G intron_variant ESAD-UK 12 41643984 41643984 single base substitution T G intron_variant ESAD-UK 12 41644004 41644004 single base substitution T G intron_variant ESAD-UK 12 41644055 41644055 single base substitution A C intron_variant ESAD-UK 12 41644506 41644506 single base substitution T C intron_variant ESAD-UK 12 41644514 41644514 single base substitution A C intron_variant ESAD-UK 12 41644579 41644579 single base substitution C A intron_variant ESAD-UK 12 41645597 41645597 single base substitution A G intron_variant ESAD-UK 12 41645672 41645672 single base substitution C G intron_variant ESAD-UK 12 41645722 41645722 single base substitution A T intron_variant ESAD-UK 12 41645858 41645858 single base substitution C T intron_variant ESAD-UK 12 41646158 41646158 single base substitution A G intron_variant ESAD-UK 12 41646301 41646301 single base substitution G A intron_variant ESAD-UK 12 41646790 41646790 single base substitution A T intron_variant ESAD-UK 12 41646928 41646928 single base substitution T G intron_variant ESAD-UK 12 41647292 41647292 single base substitution A C intron_variant ESAD-UK 12 41647609 41647609 single base substitution A C intron_variant ESAD-UK 12 41647931 41647931 deletion of <=200bp T - intron_variant ESAD-UK 12 41648173 41648173 single base substitution A G intron_variant ESAD-UK 12 41648501 41648501 single base substitution G T intron_variant ESAD-UK 12 41648607 41648607 single base substitution G T intron_variant ESAD-UK 12 41648785 41648785 single base substitution A C intron_variant ESAD-UK 12 41648840 41648840 single base substitution G T intron_variant ESAD-UK 12 41649146 41649146 single base substitution A G intron_variant ESAD-UK 12 41649519 41649519 single base substitution A C intron_variant ESAD-UK 12 41649593 41649593 single base substitution A T intron_variant ESAD-UK 12 41649774 41649774 single base substitution A C intron_variant ESAD-UK 12 41649806 41649806 single base substitution A G intron_variant ESAD-UK 12 41649846 41649846 single base substitution A G intron_variant ESAD-UK 12 41649868 41649868 single base substitution A C intron_variant ESAD-UK 12 41650013 41650013 single base substitution A G intron_variant ESAD-UK 12 41650217 41650217 single base substitution A C intron_variant ESAD-UK 12 41650319 41650319 single base substitution C T intron_variant ESAD-UK 12 41650386 41650386 single base substitution C T intron_variant ESAD-UK 12 41651481 41651481 single base substitution A T intron_variant ESAD-UK 12 41653050 41653050 single base substitution A G intron_variant ESAD-UK 12 41653064 41653064 single base substitution G T intron_variant ESAD-UK 12 41653133 41653133 single base substitution C T intron_variant ESAD-UK 12 41653387 41653387 single base substitution A G intron_variant ESAD-UK 12 41653866 41653866 single base substitution T C intron_variant ESAD-UK 12 41654287 41654287 single base substitution A G intron_variant ESAD-UK 12 41655115 41655115 single base substitution A G intron_variant ESAD-UK 12 41655253 41655253 single base substitution T G intron_variant ESAD-UK 12 41655382 41655382 single base substitution C T intron_variant ESAD-UK 12 41655527 41655527 single base substitution G A intron_variant ESAD-UK 12 41655664 41655664 single base substitution A C intron_variant ESAD-UK 12 41655849 41655849 single base substitution A C intron_variant ESAD-UK 12 41656010 41656010 single base substitution A G intron_variant ESAD-UK 12 41657257 41657257 single base substitution G T intron_variant ESAD-UK 12 41657737 41657737 single base substitution C A intron_variant ESAD-UK 12 41658021 41658021 single base substitution T G intron_variant ESAD-UK 12 41658259 41658259 single base substitution A T intron_variant ESAD-UK 12 41658471 41658471 single base substitution A C intron_variant ESAD-UK 12 41658905 41658905 single base substitution T C intron_variant ESAD-UK 12 41661095 41661095 single base substitution A T intron_variant ESAD-UK 12 41661525 41661525 single base substitution C T intron_variant ESAD-UK 12 41663038 41663038 single base substitution T G intron_variant ESAD-UK 12 41664063 41664063 insertion of <=200bp - TG intron_variant ESAD-UK 12 41664679 41664679 single base substitution A G intron_variant ESAD-UK 12 41664706 41664706 single base substitution G A intron_variant ESAD-UK 12 41664766 41664766 single base substitution T C intron_variant ESAD-UK 12 41664766 41664766 single base substitution T G intron_variant ESAD-UK 12 41665030 41665030 single base substitution A G intron_variant ESAD-UK 12 41665295 41665295 single base substitution A T intron_variant ESAD-UK 12 41665503 41665503 single base substitution G A intron_variant ESAD-UK 12 41665589 41665589 single base substitution A C intron_variant ESAD-UK 12 41665859 41665860 deletion of <=200bp GT - intron_variant ESAD-UK 12 41665863 41665863 single base substitution T A intron_variant ESAD-UK 12 41665889 41665889 deletion of <=200bp A - intron_variant ESAD-UK 12 41666122 41666122 single base substitution T G intron_variant ESAD-UK 12 41666374 41666374 single base substitution G T intron_variant ESAD-UK 12 41667347 41667347 single base substitution A G intron_variant ESAD-UK 12 41667490 41667490 single base substitution T G intron_variant ESAD-UK 12 41667736 41667736 single base substitution T G intron_variant ESAD-UK 12 41668024 41668024 insertion of <=200bp - A intron_variant ESAD-UK 12 41669001 41669001 single base substitution T G intron_variant ESAD-UK 12 41669081 41669081 single base substitution T C intron_variant ESAD-UK 12 41669163 41669163 single base substitution T G intron_variant ESAD-UK 12 41669466 41669466 single base substitution A T intron_variant ESAD-UK 12 41669904 41669904 single base substitution G T intron_variant ESAD-UK 12 41669991 41669991 single base substitution A C intron_variant ESAD-UK 12 41671024 41671024 single base substitution A G intron_variant ESAD-UK 12 41671357 41671357 single base substitution C T intron_variant ESAD-UK 12 41671607 41671607 single base substitution T C intron_variant ESAD-UK 12 41672073 41672073 single base substitution A G intron_variant ESAD-UK 12 41672218 41672218 single base substitution C T intron_variant ESAD-UK 12 41672617 41672617 single base substitution T C intron_variant ESAD-UK 12 41673018 41673018 single base substitution A T intron_variant ESAD-UK 12 41673166 41673166 single base substitution G C intron_variant ESAD-UK 12 41673359 41673359 single base substitution T A intron_variant ESAD-UK 12 41673635 41673635 single base substitution T C intron_variant ESAD-UK 12 41673638 41673638 single base substitution G A intron_variant ESAD-UK 12 41675066 41675066 single base substitution C T intron_variant ESAD-UK 12 41675104 41675104 single base substitution C A intron_variant ESAD-UK 12 41675460 41675460 single base substitution A G intron_variant ESAD-UK 12 41675752 41675752 single base substitution A G intron_variant ESAD-UK 12 41675816 41675816 single base substitution A G intron_variant ESAD-UK 12 41675830 41675830 single base substitution A T intron_variant ESAD-UK 12 41675975 41675975 single base substitution G A intron_variant ESAD-UK 12 41676088 41676088 single base substitution T A intron_variant ESAD-UK 12 41676124 41676124 single base substitution C A intron_variant ESAD-UK 12 41676148 41676148 single base substitution A T intron_variant ESAD-UK 12 41676225 41676225 single base substitution G C intron_variant ESAD-UK 12 41676760 41676760 single base substitution A G intron_variant ESAD-UK 12 41676934 41676934 single base substitution A G intron_variant ESAD-UK 12 41677147 41677147 single base substitution A T intron_variant ESAD-UK 12 41677178 41677178 single base substitution T A intron_variant ESAD-UK 12 41677298 41677298 single base substitution C A intron_variant ESAD-UK 12 41678182 41678182 single base substitution C T intron_variant ESAD-UK 12 41678329 41678329 deletion of <=200bp A - intron_variant ESAD-UK 12 41678493 41678493 single base substitution A G intron_variant ESAD-UK 12 41678650 41678650 single base substitution A T intron_variant ESAD-UK 12 41679695 41679695 single base substitution T G intron_variant ESAD-UK 12 41680017 41680017 single base substitution C T intron_variant ESAD-UK 12 41680083 41680083 single base substitution A G intron_variant ESAD-UK 12 41680330 41680330 single base substitution A C intron_variant ESAD-UK 12 41681610 41681610 single base substitution C A intron_variant ESAD-UK 12 41681611 41681611 single base substitution C A intron_variant ESAD-UK 12 41681723 41681723 single base substitution A T intron_variant ESAD-UK 12 41681915 41681915 single base substitution A G intron_variant ESAD-UK 12 41682102 41682102 single base substitution T G intron_variant ESAD-UK 12 41682671 41682671 single base substitution T C intron_variant ESAD-UK 12 41682806 41682806 insertion of <=200bp - A intron_variant ESAD-UK 12 41682837 41682837 single base substitution A C intron_variant ESAD-UK 12 41682865 41682865 single base substitution G T intron_variant ESAD-UK 12 41683025 41683025 single base substitution T G intron_variant ESAD-UK 12 41683028 41683028 single base substitution A C intron_variant ESAD-UK 12 41683064 41683064 single base substitution T G intron_variant ESAD-UK 12 41683405 41683405 single base substitution T C intron_variant ESAD-UK 12 41683405 41683405 single base substitution T G intron_variant ESAD-UK 12 41684131 41684131 single base substitution C A intron_variant ESAD-UK 12 41684393 41684393 single base substitution T A intron_variant ESAD-UK 12 41684460 41684460 single base substitution A T intron_variant ESAD-UK 12 41684684 41684684 single base substitution C A intron_variant ESAD-UK 12 41684833 41684833 single base substitution T A intron_variant ESAD-UK 12 41684834 41684834 single base substitution A T intron_variant ESAD-UK 12 41685193 41685193 single base substitution A G intron_variant ESAD-UK 12 41685656 41685656 single base substitution G T intron_variant ESAD-UK 12 41686103 41686103 single base substitution C A intron_variant ESAD-UK 12 41686584 41686584 single base substitution T G intron_variant ESAD-UK 12 41687431 41687431 single base substitution A C intron_variant ESAD-UK 12 41687689 41687689 single base substitution C G intron_variant ESAD-UK 12 41687781 41687781 single base substitution T G intron_variant ESAD-UK 12 41687819 41687819 single base substitution G T intron_variant ESAD-UK 12 41687834 41687834 single base substitution G T intron_variant ESAD-UK 12 41687835 41687835 single base substitution A T intron_variant ESAD-UK 12 41688189 41688189 single base substitution T A intron_variant ESAD-UK 12 41688761 41688761 single base substitution G T intron_variant ESAD-UK 12 41689451 41689451 single base substitution T G intron_variant ESAD-UK 12 41689784 41689784 insertion of <=200bp - T intron_variant ESAD-UK 12 41690167 41690167 single base substitution T G intron_variant ESAD-UK 12 41690178 41690178 single base substitution T C intron_variant ESAD-UK 12 41690225 41690225 single base substitution A G intron_variant ESAD-UK 12 41690236 41690236 single base substitution A C intron_variant ESAD-UK 12 41690259 41690259 single base substitution T C intron_variant ESAD-UK 12 41690440 41690440 single base substitution T A intron_variant ESAD-UK 12 41690677 41690677 single base substitution T C intron_variant ESAD-UK 12 41690800 41690800 deletion of <=200bp T - intron_variant ESAD-UK 12 41690809 41690809 single base substitution A C intron_variant ESAD-UK 12 41690868 41690868 single base substitution T A intron_variant ESAD-UK 12 41690952 41690952 single base substitution G A intron_variant ESAD-UK 12 41690992 41690992 single base substitution T G intron_variant ESAD-UK 12 41691117 41691117 single base substitution T A intron_variant ESAD-UK 12 41691620 41691620 single base substitution T G intron_variant ESAD-UK 12 41691762 41691762 single base substitution T G intron_variant ESAD-UK 12 41692086 41692086 single base substitution A G intron_variant ESAD-UK 12 41692105 41692105 single base substitution C G intron_variant ESAD-UK 12 41692576 41692576 single base substitution C G intron_variant ESAD-UK 12 41692641 41692641 single base substitution T G intron_variant ESAD-UK 12 41692962 41692962 single base substitution A C intron_variant ESAD-UK 12 41693194 41693194 single base substitution T C intron_variant ESAD-UK 12 41693566 41693566 single base substitution A G intron_variant ESAD-UK 12 41694095 41694095 single base substitution A G intron_variant ESAD-UK 12 41694486 41694486 single base substitution A C intron_variant ESAD-UK 12 41694577 41694577 single base substitution A C intron_variant ESAD-UK 12 41695069 41695069 single base substitution C T intron_variant ESAD-UK 12 41696841 41696841 single base substitution A C intron_variant ESAD-UK 12 41697199 41697199 single base substitution G A intron_variant ESAD-UK 12 41697204 41697204 single base substitution A C intron_variant ESAD-UK 12 41697391 41697391 single base substitution T G intron_variant ESAD-UK 12 41697607 41697607 single base substitution T G intron_variant ESAD-UK 12 41697634 41697634 single base substitution G T intron_variant ESAD-UK 12 41697796 41697796 single base substitution A G intron_variant ESAD-UK 12 41698142 41698142 single base substitution T A intron_variant ESAD-UK 12 41698184 41698184 single base substitution T G intron_variant ESAD-UK 12 41698247 41698247 single base substitution T C intron_variant ESAD-UK 12 41698328 41698328 single base substitution T G intron_variant ESAD-UK 12 41698529 41698529 single base substitution A C intron_variant ESAD-UK 12 41698957 41698957 single base substitution T G intron_variant ESAD-UK 12 41699121 41699121 single base substitution T C intron_variant ESAD-UK 12 41699393 41699393 single base substitution T C intron_variant ESAD-UK 12 41699411 41699411 single base substitution C A intron_variant ESAD-UK 12 41699607 41699607 single base substitution G A intron_variant ESAD-UK 12 41699920 41699920 single base substitution A G intron_variant ESAD-UK 12 41700013 41700013 single base substitution T C intron_variant ESAD-UK 12 41700150 41700150 single base substitution C T intron_variant ESAD-UK 12 41700245 41700245 single base substitution A C intron_variant ESAD-UK 12 41700289 41700289 single base substitution A T intron_variant ESAD-UK 12 41700522 41700524 deletion of <=200bp AGA - intron_variant ESAD-UK 12 41700648 41700648 single base substitution T G intron_variant ESAD-UK 12 41700782 41700782 single base substitution C A intron_variant ESAD-UK 12 41700993 41700993 single base substitution C T intron_variant ESAD-UK 12 41701132 41701132 single base substitution T G intron_variant ESAD-UK 12 41701172 41701172 single base substitution T C intron_variant ESAD-UK 12 41701701 41701701 single base substitution T G intron_variant ESAD-UK 12 41702062 41702062 single base substitution A G intron_variant ESAD-UK 12 41702533 41702533 single base substitution T G intron_variant ESAD-UK 12 41702539 41702539 single base substitution T C intron_variant ESAD-UK 12 41702924 41702924 single base substitution T A intron_variant ESAD-UK 12 41703142 41703142 single base substitution C A intron_variant ESAD-UK 12 41703176 41703176 single base substitution G A intron_variant ESAD-UK 12 41703255 41703255 single base substitution A G intron_variant ESAD-UK 12 41703718 41703718 single base substitution A T intron_variant ESAD-UK 12 41704557 41704557 single base substitution A G intron_variant ESAD-UK 12 41704680 41704680 single base substitution G A intron_variant ESAD-UK 12 41704995 41704995 single base substitution T G intron_variant ESAD-UK 12 41705354 41705354 single base substitution A T intron_variant ESAD-UK 12 41705463 41705463 single base substitution T G intron_variant ESAD-UK 12 41705616 41705616 single base substitution C T intron_variant ESAD-UK 12 41705661 41705661 single base substitution A T intron_variant ESAD-UK 12 41705707 41705707 single base substitution A G intron_variant ESAD-UK 12 41705814 41705814 single base substitution G A intron_variant ESAD-UK 12 41706005 41706005 single base substitution T C intron_variant ESAD-UK 12 41706175 41706175 single base substitution T G intron_variant ESAD-UK 12 41706213 41706213 single base substitution T C intron_variant ESAD-UK 12 41706488 41706488 single base substitution T A intron_variant ESAD-UK 12 41706900 41706900 single base substitution C T intron_variant ESAD-UK 12 41706984 41706984 single base substitution T G intron_variant ESAD-UK 12 41707409 41707409 single base substitution C A intron_variant ESAD-UK 12 41707584 41707584 single base substitution T A intron_variant ESAD-UK 12 41707678 41707678 single base substitution T G intron_variant ESAD-UK 12 41707877 41707877 single base substitution A G intron_variant ESAD-UK 12 41708166 41708166 single base substitution T G intron_variant ESAD-UK 12 41708246 41708246 single base substitution A G intron_variant ESAD-UK 12 41708320 41708320 single base substitution C T intron_variant ESAD-UK 12 41709177 41709177 single base substitution A G intron_variant ESAD-UK 12 41709207 41709207 single base substitution G C intron_variant ESAD-UK 12 41709291 41709291 single base substitution A C intron_variant ESAD-UK 12 41709577 41709577 single base substitution T A intron_variant ESAD-UK 12 41709603 41709603 single base substitution C A intron_variant ESAD-UK 12 41709629 41709629 single base substitution A T intron_variant ESAD-UK 12 41709887 41709887 single base substitution A G intron_variant ESAD-UK 12 41710423 41710423 single base substitution A T intron_variant ESAD-UK 12 41710445 41710445 single base substitution T A intron_variant ESAD-UK 12 41710550 41710550 single base substitution T C intron_variant ESAD-UK 12 41710719 41710719 single base substitution A C intron_variant ESAD-UK 12 41710774 41710774 single base substitution C G intron_variant ESAD-UK 12 41710803 41710803 single base substitution A C intron_variant ESAD-UK 12 41711178 41711178 single base substitution T C intron_variant ESAD-UK 12 41711194 41711194 single base substitution A G intron_variant ESAD-UK 12 41711276 41711276 deletion of <=200bp A - intron_variant ESAD-UK 12 41711340 41711340 single base substitution A C intron_variant ESAD-UK 12 41711664 41711664 single base substitution G A intron_variant ESAD-UK 12 41712187 41712187 single base substitution T C intron_variant ESAD-UK 12 41712237 41712237 single base substitution A C intron_variant ESAD-UK 12 41712295 41712295 single base substitution C T intron_variant ESAD-UK 12 41712465 41712465 single base substitution T A intron_variant ESAD-UK 12 41712721 41712721 single base substitution G T intron_variant ESAD-UK 12 41712746 41712746 single base substitution T G intron_variant ESAD-UK 12 41712779 41712779 single base substitution A T intron_variant ESAD-UK 12 41713045 41713045 single base substitution T C intron_variant ESAD-UK 12 41713057 41713057 single base substitution T C intron_variant ESAD-UK 12 41713108 41713108 single base substitution T C intron_variant ESAD-UK 12 41713219 41713219 single base substitution T G intron_variant ESAD-UK 12 41713323 41713323 single base substitution C T intron_variant ESAD-UK 12 41713486 41713486 single base substitution T C intron_variant ESAD-UK 12 41713830 41713830 single base substitution T G intron_variant ESAD-UK 12 41713873 41713873 single base substitution T G intron_variant ESAD-UK 12 41714021 41714021 single base substitution T G intron_variant ESAD-UK 12 41714038 41714038 single base substitution C G intron_variant ESAD-UK 12 41714107 41714107 single base substitution A T intron_variant ESAD-UK 12 41715675 41715675 single base substitution C T intron_variant ESAD-UK 12 41715687 41715687 single base substitution T G intron_variant ESAD-UK 12 41716795 41716795 single base substitution C A intron_variant ESAD-UK 12 41716865 41716865 single base substitution A C intron_variant ESAD-UK 12 41716955 41716955 single base substitution A G intron_variant ESAD-UK 12 41717409 41717409 single base substitution A C intron_variant ESAD-UK 12 41717492 41717492 single base substitution A C intron_variant ESAD-UK 12 41717832 41717832 single base substitution T C intron_variant ESAD-UK 12 41717992 41717992 single base substitution T A intron_variant ESAD-UK 12 41718885 41718885 single base substitution G A intron_variant ESAD-UK 12 41718947 41718947 single base substitution T C intron_variant ESAD-UK 12 41719072 41719072 single base substitution T A intron_variant ESAD-UK 12 41719072 41719072 single base substitution T G intron_variant ESAD-UK 12 41719100 41719100 single base substitution A C intron_variant ESAD-UK 12 41719256 41719256 single base substitution A G intron_variant ESAD-UK 12 41719434 41719434 single base substitution T G intron_variant ESAD-UK 12 41719955 41719955 insertion of <=200bp - TTTGCA intron_variant ESAD-UK 12 41720036 41720036 single base substitution T G intron_variant ESAD-UK 12 41720216 41720216 single base substitution C A intron_variant ESAD-UK 12 41720569 41720569 single base substitution T C intron_variant ESAD-UK 12 41721204 41721204 single base substitution A G intron_variant ESAD-UK 12 41721578 41721578 single base substitution A C intron_variant ESAD-UK 12 41721646 41721646 single base substitution G T intron_variant ESAD-UK 12 41722244 41722244 single base substitution C T intron_variant ESAD-UK 12 41722249 41722249 single base substitution A C intron_variant ESAD-UK 12 41722917 41722917 single base substitution A G intron_variant ESAD-UK 12 41723575 41723575 single base substitution A C intron_variant ESAD-UK 12 41723584 41723584 single base substitution A C intron_variant ESAD-UK 12 41723784 41723784 single base substitution T C intron_variant ESAD-UK 12 41723842 41723842 single base substitution A C intron_variant ESAD-UK 12 41724134 41724134 single base substitution T A intron_variant ESAD-UK 12 41724580 41724580 single base substitution A C intron_variant ESAD-UK 12 41724758 41724758 single base substitution A T intron_variant ESAD-UK 12 41724759 41724759 single base substitution G C intron_variant ESAD-UK 12 41725248 41725248 single base substitution A G intron_variant ESAD-UK 12 41725487 41725487 single base substitution A T intron_variant ESAD-UK 12 41725525 41725525 single base substitution G A intron_variant ESAD-UK 12 41725605 41725605 single base substitution A T intron_variant ESAD-UK 12 41726637 41726637 single base substitution A C intron_variant ESAD-UK 12 41727598 41727598 single base substitution A C intron_variant ESAD-UK 12 41727810 41727810 single base substitution A C intron_variant ESAD-UK 12 41727902 41727902 single base substitution A C intron_variant ESAD-UK 12 41727916 41727916 single base substitution T C intron_variant ESAD-UK 12 41727934 41727934 single base substitution A C intron_variant ESAD-UK 12 41728901 41728901 deletion of <=200bp A - intron_variant ESAD-UK 12 41729046 41729046 single base substitution T C intron_variant ESAD-UK 12 41729050 41729050 single base substitution T C intron_variant ESAD-UK 12 41729201 41729201 single base substitution T G intron_variant ESAD-UK 12 41729293 41729293 single base substitution A C intron_variant ESAD-UK 12 41729743 41729743 single base substitution A G intron_variant ESAD-UK 12 41729832 41729832 single base substitution G T intron_variant ESAD-UK 12 41729895 41729895 single base substitution A C intron_variant ESAD-UK 12 41729912 41729912 single base substitution G C intron_variant ESAD-UK 12 41730247 41730247 single base substitution T C intron_variant ESAD-UK 12 41730652 41730652 single base substitution C A intron_variant ESAD-UK 12 41731185 41731185 single base substitution C G intron_variant ESAD-UK 12 41731224 41731224 single base substitution A C intron_variant ESAD-UK 12 41731393 41731393 single base substitution A C intron_variant ESAD-UK 12 41731535 41731535 single base substitution C T intron_variant ESAD-UK 12 41731698 41731698 single base substitution G A intron_variant ESAD-UK 12 41731744 41731744 single base substitution A C intron_variant ESAD-UK 12 41731759 41731759 single base substitution C A intron_variant ESAD-UK 12 41731858 41731858 single base substitution A C intron_variant ESAD-UK 12 41731886 41731886 single base substitution T C intron_variant ESAD-UK 12 41732127 41732127 single base substitution T G intron_variant ESAD-UK 12 41732359 41732359 single base substitution T G intron_variant ESAD-UK 12 41732492 41732492 single base substitution T C intron_variant ESAD-UK 12 41732493 41732493 single base substitution T C intron_variant ESAD-UK 12 41733001 41733001 single base substitution A G intron_variant ESAD-UK 12 41733230 41733230 single base substitution G T intron_variant ESAD-UK 12 41733551 41733551 single base substitution A T intron_variant ESAD-UK 12 41733591 41733591 single base substitution A C intron_variant ESAD-UK 12 41733737 41733737 single base substitution A G intron_variant ESAD-UK 12 41734538 41734538 single base substitution T G intron_variant ESAD-UK 12 41734551 41734551 single base substitution G T intron_variant ESAD-UK 12 41734966 41734966 single base substitution A G intron_variant ESAD-UK 12 41735409 41735409 deletion of <=200bp A - intron_variant ESAD-UK 12 41735490 41735490 single base substitution A C intron_variant ESAD-UK 12 41735905 41735905 single base substitution A T intron_variant ESAD-UK 12 41735934 41735934 single base substitution A T intron_variant ESAD-UK 12 41735994 41735994 single base substitution A C intron_variant ESAD-UK 12 41736054 41736054 single base substitution A C intron_variant ESAD-UK 12 41736794 41736794 single base substitution A C intron_variant ESAD-UK 12 41737947 41737947 single base substitution T A intron_variant ESAD-UK 12 41738336 41738336 single base substitution C T intron_variant ESAD-UK 12 41738356 41738356 single base substitution G A intron_variant ESAD-UK 12 41739228 41739228 single base substitution T A intron_variant ESAD-UK 12 41739298 41739298 single base substitution A C intron_variant ESAD-UK 12 41739671 41739671 single base substitution T G intron_variant ESAD-UK 12 41739695 41739695 single base substitution C G intron_variant ESAD-UK 12 41740115 41740115 single base substitution T G intron_variant ESAD-UK 12 41741396 41741396 single base substitution G T intron_variant ESAD-UK 12 41742014 41742014 single base substitution T C intron_variant ESAD-UK 12 41742037 41742037 single base substitution T G intron_variant ESAD-UK 12 41742202 41742202 single base substitution G T intron_variant ESAD-UK 12 41742471 41742471 single base substitution T C intron_variant ESAD-UK 12 41742539 41742539 single base substitution T C intron_variant ESAD-UK 12 41742559 41742559 single base substitution T G intron_variant ESAD-UK 12 41742763 41742763 single base substitution T A intron_variant ESAD-UK 12 41743785 41743785 deletion of <=200bp A - intron_variant ESAD-UK 12 41743785 41743785 insertion of <=200bp - A intron_variant ESAD-UK 12 41743892 41743892 single base substitution G T intron_variant ESAD-UK 12 41744255 41744255 single base substitution A T intron_variant ESAD-UK 12 41744273 41744273 single base substitution A G intron_variant ESAD-UK 12 41744384 41744384 single base substitution A C intron_variant ESAD-UK 12 41744479 41744479 single base substitution A C intron_variant ESAD-UK 12 41744606 41744606 single base substitution T C intron_variant ESAD-UK 12 41744873 41744873 single base substitution T C intron_variant ESAD-UK 12 41744913 41744913 single base substitution T C intron_variant ESAD-UK 12 41745048 41745048 single base substitution C A intron_variant ESAD-UK 12 41745296 41745296 single base substitution T G intron_variant ESAD-UK 12 41745976 41745976 single base substitution G T intron_variant ESAD-UK 12 41746351 41746351 single base substitution T G intron_variant ESAD-UK 12 41747204 41747204 single base substitution T C intron_variant ESAD-UK 12 41747263 41747263 single base substitution A C intron_variant ESAD-UK 12 41747306 41747306 single base substitution C G intron_variant ESAD-UK 12 41747385 41747385 single base substitution T C intron_variant ESAD-UK 12 41747471 41747471 single base substitution A C intron_variant ESAD-UK 12 41747471 41747471 single base substitution A G intron_variant ESAD-UK 12 41747780 41747780 single base substitution T A intron_variant ESAD-UK 12 41748154 41748154 single base substitution T G intron_variant ESAD-UK 12 41748191 41748191 single base substitution G A intron_variant ESAD-UK 12 41748551 41748551 single base substitution G C intron_variant ESAD-UK 12 41748657 41748657 single base substitution C T intron_variant ESAD-UK 12 41748992 41748992 single base substitution C T intron_variant ESAD-UK 12 41749510 41749510 single base substitution A G intron_variant ESAD-UK 12 41749536 41749536 single base substitution A C intron_variant ESAD-UK 12 41749568 41749568 single base substitution T G intron_variant ESAD-UK 12 41749607 41749607 single base substitution A C intron_variant ESAD-UK 12 41749637 41749637 single base substitution G T intron_variant ESAD-UK 12 41749907 41749907 single base substitution T G intron_variant ESAD-UK 12 41750678 41750678 single base substitution T C intron_variant ESAD-UK 12 41750748 41750748 single base substitution A G intron_variant ESAD-UK 12 41750847 41750847 deletion of <=200bp T - intron_variant ESAD-UK 12 41750867 41750867 single base substitution A C intron_variant ESAD-UK 12 41750936 41750936 insertion of <=200bp - CT intron_variant ESAD-UK 12 41750938 41750938 single base substitution C A intron_variant ESAD-UK 12 41751498 41751498 single base substitution T G intron_variant ESAD-UK 12 41751504 41751504 single base substitution A G intron_variant ESAD-UK 12 41751545 41751545 single base substitution A C intron_variant ESAD-UK 12 41751673 41751673 single base substitution A T intron_variant ESAD-UK 12 41751958 41751958 single base substitution G T intron_variant ESAD-UK 12 41752247 41752247 single base substitution A C intron_variant ESAD-UK 12 41752316 41752316 single base substitution G T intron_variant ESAD-UK 12 41752635 41752635 single base substitution G A intron_variant ESAD-UK 12 41752948 41752948 single base substitution C T intron_variant ESAD-UK 12 41753065 41753065 single base substitution G C intron_variant ESAD-UK 12 41753398 41753398 single base substitution A C intron_variant ESAD-UK 12 41753760 41753760 single base substitution A C intron_variant ESAD-UK 12 41753952 41753952 single base substitution C T intron_variant ESAD-UK 12 41754048 41754048 single base substitution A C intron_variant ESAD-UK 12 41754133 41754133 single base substitution T G intron_variant ESAD-UK 12 41754272 41754272 single base substitution A G intron_variant ESAD-UK 12 41754377 41754377 single base substitution G T intron_variant ESAD-UK 12 41754436 41754436 single base substitution A C intron_variant ESAD-UK 12 41755012 41755012 single base substitution A C intron_variant ESAD-UK 12 41755269 41755269 single base substitution A C intron_variant ESAD-UK 12 41755272 41755272 single base substitution T G intron_variant ESAD-UK 12 41755394 41755394 single base substitution T C intron_variant ESAD-UK 12 41755394 41755394 single base substitution T G intron_variant ESAD-UK 12 41755489 41755489 single base substitution G T intron_variant ESAD-UK 12 41755896 41755896 single base substitution G C intron_variant ESAD-UK 12 41756047 41756047 single base substitution T C intron_variant ESAD-UK 12 41756262 41756262 single base substitution A C intron_variant ESAD-UK 12 41756274 41756274 single base substitution T C intron_variant ESAD-UK 12 41756307 41756307 single base substitution A T intron_variant ESAD-UK 12 41756686 41756686 single base substitution A C intron_variant ESAD-UK 12 41756729 41756729 single base substitution T G intron_variant ESAD-UK 12 41756762 41756762 single base substitution T G intron_variant ESAD-UK 12 41757063 41757063 single base substitution C A intron_variant ESAD-UK 12 41757302 41757302 single base substitution A T intron_variant ESAD-UK 12 41757705 41757705 single base substitution G A intron_variant ESAD-UK 12 41757873 41757873 single base substitution A C intron_variant ESAD-UK 12 41758164 41758164 single base substitution T C intron_variant ESAD-UK 12 41758508 41758508 single base substitution A G intron_variant ESAD-UK 12 41759053 41759053 single base substitution T G intron_variant ESAD-UK 12 41759143 41759143 single base substitution T G intron_variant ESAD-UK 12 41759179 41759179 single base substitution T A intron_variant ESAD-UK 12 41759469 41759469 single base substitution C A intron_variant ESAD-UK 12 41759784 41759784 single base substitution C A intron_variant ESAD-UK 12 41759911 41759911 single base substitution C T intron_variant ESAD-UK 12 41759949 41759949 single base substitution A C intron_variant ESAD-UK 12 41759949 41759949 single base substitution A G intron_variant ESAD-UK 12 41760216 41760216 single base substitution C T intron_variant ESAD-UK 12 41760479 41760479 single base substitution A G intron_variant ESAD-UK 12 41760738 41760738 single base substitution A G intron_variant ESAD-UK 12 41760898 41760898 single base substitution A C intron_variant ESAD-UK 12 41761115 41761115 single base substitution C A intron_variant ESAD-UK 12 41761334 41761334 single base substitution G C intron_variant ESAD-UK 12 41761567 41761567 single base substitution A C intron_variant ESAD-UK 12 41761640 41761640 single base substitution A G intron_variant ESAD-UK 12 41761833 41761833 single base substitution T G intron_variant ESAD-UK 12 41762225 41762225 single base substitution T C intron_variant ESAD-UK 12 41762427 41762427 single base substitution T G intron_variant ESAD-UK 12 41762436 41762436 single base substitution A G intron_variant ESAD-UK 12 41762777 41762777 single base substitution C A intron_variant ESAD-UK 12 41763171 41763171 single base substitution A G intron_variant ESAD-UK 12 41763527 41763527 single base substitution A G intron_variant ESAD-UK 12 41763652 41763652 single base substitution C T intron_variant ESAD-UK 12 41763951 41763951 single base substitution T G intron_variant ESAD-UK 12 41764131 41764131 single base substitution C A intron_variant ESAD-UK 12 41764467 41764467 single base substitution T G intron_variant ESAD-UK 12 41764829 41764829 single base substitution G A intron_variant ESAD-UK 12 41765026 41765026 single base substitution T G intron_variant ESAD-UK 12 41765580 41765580 single base substitution A C intron_variant ESAD-UK 12 41766015 41766015 single base substitution T G intron_variant ESAD-UK 12 41766131 41766131 single base substitution T C intron_variant ESAD-UK 12 41766131 41766131 single base substitution T G intron_variant ESAD-UK 12 41766188 41766188 single base substitution G A intron_variant ESAD-UK 12 41767120 41767120 single base substitution G A intron_variant ESAD-UK 12 41767355 41767355 single base substitution C A intron_variant ESAD-UK 12 41767529 41767529 single base substitution A C intron_variant ESAD-UK 12 41767789 41767789 single base substitution T C intron_variant ESAD-UK 12 41767983 41767983 single base substitution A C intron_variant ESAD-UK 12 41768334 41768334 single base substitution G A intron_variant ESAD-UK 12 41768420 41768420 deletion of <=200bp A - intron_variant ESAD-UK 12 41768427 41768427 single base substitution T C intron_variant ESAD-UK 12 41768532 41768532 single base substitution A C intron_variant ESAD-UK 12 41769017 41769017 single base substitution T C intron_variant ESAD-UK 12 41769296 41769296 single base substitution T G intron_variant ESAD-UK 12 41769758 41769758 single base substitution A G intron_variant ESAD-UK 12 41769843 41769843 single base substitution A C intron_variant ESAD-UK 12 41769843 41769843 single base substitution A G intron_variant ESAD-UK 12 41769882 41769882 insertion of <=200bp - T intron_variant ESAD-UK 12 41770170 41770170 single base substitution C A intron_variant ESAD-UK 12 41770201 41770201 insertion of <=200bp - T intron_variant ESAD-UK 12 41770595 41770595 single base substitution G T intron_variant ESAD-UK 12 41770647 41770647 single base substitution A C intron_variant ESAD-UK 12 41770694 41770694 single base substitution G T intron_variant ESAD-UK 12 41770698 41770698 single base substitution A C intron_variant ESAD-UK 12 41770698 41770698 single base substitution A G intron_variant ESAD-UK 12 41770701 41770701 single base substitution T G intron_variant ESAD-UK 12 41770827 41770827 single base substitution A C intron_variant ESAD-UK 12 41771040 41771040 deletion of <=200bp T - intron_variant ESAD-UK 12 41771060 41771060 single base substitution A C intron_variant ESAD-UK 12 41771237 41771237 single base substitution C T intron_variant ESAD-UK 12 41771241 41771241 single base substitution C T intron_variant ESAD-UK 12 41771324 41771324 single base substitution G A intron_variant ESAD-UK 12 41771539 41771539 single base substitution G T intron_variant ESAD-UK 12 41771883 41771883 single base substitution T C intron_variant ESAD-UK 12 41771914 41771914 single base substitution T C intron_variant ESAD-UK 12 41772392 41772392 single base substitution T G intron_variant ESAD-UK 12 41772451 41772451 single base substitution A C intron_variant ESAD-UK 12 41772451 41772451 single base substitution A G intron_variant ESAD-UK 12 41772657 41772657 single base substitution A C intron_variant ESAD-UK 12 41772869 41772869 deletion of <=200bp T - intron_variant ESAD-UK 12 41773058 41773058 single base substitution T G intron_variant ESAD-UK 12 41774155 41774155 single base substitution A G intron_variant ESAD-UK 12 41774302 41774302 single base substitution T C intron_variant ESAD-UK 12 41774371 41774371 single base substitution T G intron_variant ESAD-UK 12 41774490 41774490 single base substitution A G intron_variant ESAD-UK 12 41774865 41774865 single base substitution T A intron_variant ESAD-UK 12 41775008 41775008 single base substitution T G intron_variant ESAD-UK 12 41775119 41775119 single base substitution T C intron_variant ESAD-UK 12 41775166 41775166 single base substitution T C intron_variant ESAD-UK 12 41775193 41775193 single base substitution A G intron_variant ESAD-UK 12 41775349 41775349 single base substitution T C intron_variant ESAD-UK 12 41775551 41775551 single base substitution A T intron_variant ESAD-UK 12 41775754 41775754 single base substitution A T intron_variant ESAD-UK 12 41776219 41776219 single base substitution A C intron_variant ESAD-UK 12 41776309 41776309 single base substitution T C intron_variant ESAD-UK 12 41776573 41776573 single base substitution T C intron_variant ESAD-UK 12 41776577 41776577 single base substitution A G intron_variant ESAD-UK 12 41776592 41776592 single base substitution T G intron_variant ESAD-UK 12 41776620 41776620 single base substitution A C intron_variant ESAD-UK 12 41776621 41776621 single base substitution A C intron_variant ESAD-UK 12 41776621 41776621 single base substitution A T intron_variant ESAD-UK 12 41776738 41776738 single base substitution A C intron_variant ESAD-UK 12 41776738 41776738 single base substitution A T intron_variant ESAD-UK 12 41776827 41776827 single base substitution A C intron_variant ESAD-UK 12 41777100 41777100 single base substitution A C intron_variant ESAD-UK 12 41777373 41777373 single base substitution T G intron_variant ESAD-UK 12 41777660 41777660 single base substitution G C intron_variant ESAD-UK 12 41777661 41777661 single base substitution T A intron_variant ESAD-UK 12 41777669 41777669 single base substitution T A intron_variant ESAD-UK 12 41777669 41777669 single base substitution T C intron_variant ESAD-UK 12 41777713 41777713 single base substitution C T intron_variant ESAD-UK 12 41777891 41777891 single base substitution G A intron_variant ESAD-UK 12 41778400 41778400 single base substitution C A intron_variant ESAD-UK 12 41778470 41778470 single base substitution T G intron_variant ESAD-UK 12 41778592 41778592 single base substitution T G intron_variant ESAD-UK 12 41779581 41779581 single base substitution A T intron_variant ESAD-UK 12 41779583 41779583 single base substitution T G intron_variant ESAD-UK 12 41779673 41779673 single base substitution A G intron_variant ESAD-UK 12 41780161 41780161 single base substitution A G intron_variant ESAD-UK 12 41780175 41780175 single base substitution T C intron_variant ESAD-UK 12 41780569 41780569 deletion of <=200bp A - intron_variant ESAD-UK 12 41780832 41780832 single base substitution C A intron_variant ESAD-UK 12 41781031 41781031 single base substitution T G intron_variant ESAD-UK 12 41781906 41781906 single base substitution G A intron_variant ESAD-UK 12 41782507 41782507 single base substitution G C intron_variant ESAD-UK 12 41782680 41782680 single base substitution A G intron_variant ESAD-UK 12 41782680 41782680 single base substitution A T intron_variant ESAD-UK 12 41782715 41782715 single base substitution T G intron_variant ESAD-UK 12 41782864 41782864 single base substitution T G intron_variant ESAD-UK 12 41783577 41783577 single base substitution C A intron_variant ESAD-UK 12 41783684 41783684 single base substitution A G intron_variant ESAD-UK 12 41783809 41783809 single base substitution A C intron_variant ESAD-UK 12 41783862 41783862 single base substitution A T intron_variant ESAD-UK 12 41784018 41784018 single base substitution A C intron_variant ESAD-UK 12 41784031 41784031 single base substitution A G intron_variant ESAD-UK 12 41784053 41784053 single base substitution T C intron_variant ESAD-UK 12 41784080 41784080 single base substitution A G intron_variant ESAD-UK 12 41784148 41784148 single base substitution T A intron_variant ESAD-UK 12 41784265 41784265 single base substitution C A intron_variant ESAD-UK 12 41784412 41784412 single base substitution A C intron_variant ESAD-UK 12 41784467 41784467 single base substitution C A intron_variant ESAD-UK 12 41784513 41784513 single base substitution A G intron_variant ESAD-UK 12 41784544 41784544 single base substitution A C intron_variant ESAD-UK 12 41784659 41784659 single base substitution G T intron_variant ESAD-UK 12 41784716 41784716 single base substitution A C intron_variant ESAD-UK 12 41784857 41784857 single base substitution C A intron_variant ESAD-UK 12 41784891 41784891 single base substitution A C intron_variant ESAD-UK 12 41784967 41784967 single base substitution G C intron_variant ESAD-UK 12 41785854 41785854 single base substitution C T intron_variant ESAD-UK 12 41785878 41785878 single base substitution A T intron_variant ESAD-UK 12 41786408 41786408 single base substitution T G intron_variant ESAD-UK 12 41786431 41786431 single base substitution T G intron_variant ESAD-UK 12 41786672 41786672 single base substitution A C intron_variant ESAD-UK 12 41786816 41786816 single base substitution T G intron_variant ESAD-UK 12 41786845 41786845 single base substitution T G intron_variant ESAD-UK 12 41786918 41786918 single base substitution C T intron_variant ESAD-UK 12 41787179 41787179 single base substitution A C intron_variant ESAD-UK 12 41787264 41787264 single base substitution T C intron_variant ESAD-UK 12 41787333 41787333 single base substitution T C intron_variant ESAD-UK 12 41787474 41787474 single base substitution A C intron_variant ESAD-UK 12 41787505 41787505 single base substitution T G intron_variant ESAD-UK 12 41787534 41787534 single base substitution T C intron_variant ESAD-UK 12 41788173 41788173 single base substitution A C intron_variant ESAD-UK 12 41788395 41788395 single base substitution A C intron_variant ESAD-UK 12 41788640 41788641 deletion of <=200bp GA - intron_variant ESAD-UK 12 41788759 41788759 single base substitution A C intron_variant ESAD-UK 12 41788796 41788796 single base substitution A T intron_variant ESAD-UK 12 41789713 41789713 single base substitution T A intron_variant ESAD-UK 12 41789988 41789988 single base substitution A T intron_variant ESAD-UK 12 41790251 41790251 single base substitution G A intron_variant ESAD-UK 12 41790436 41790436 single base substitution G A intron_variant ESAD-UK 12 41790437 41790437 single base substitution T G intron_variant ESAD-UK 12 41790528 41790528 single base substitution T G intron_variant ESAD-UK 12 41790585 41790585 single base substitution G C intron_variant ESAD-UK 12 41790609 41790609 single base substitution T C intron_variant ESAD-UK 12 41790636 41790636 single base substitution G T intron_variant ESAD-UK 12 41790684 41790684 single base substitution A G intron_variant ESAD-UK 12 41790847 41790847 single base substitution T C intron_variant ESAD-UK 12 41791220 41791220 single base substitution C A intron_variant ESAD-UK 12 41791737 41791737 insertion of <=200bp - A intron_variant ESAD-UK 12 41792377 41792377 single base substitution A T intron_variant ESAD-UK 12 41792474 41792474 single base substitution T G intron_variant ESAD-UK 12 41792578 41792578 single base substitution A C intron_variant ESAD-UK 12 41792637 41792637 single base substitution C G intron_variant ESAD-UK 12 41793036 41793036 deletion of <=200bp A - intron_variant ESAD-UK 12 41793153 41793153 single base substitution T C intron_variant ESAD-UK 12 41793193 41793193 single base substitution T C intron_variant ESAD-UK 12 41793643 41793643 single base substitution T G intron_variant ESAD-UK 12 41794169 41794169 single base substitution A G intron_variant ESAD-UK 12 41794656 41794656 single base substitution A G intron_variant ESAD-UK 12 41795300 41795300 single base substitution C A intron_variant ESAD-UK 12 41795542 41795542 single base substitution A C intron_variant ESAD-UK 12 41795917 41795917 insertion of <=200bp - GTAT intron_variant ESAD-UK 12 41796559 41796559 deletion of <=200bp A - intron_variant ESAD-UK 12 41797172 41797172 single base substitution A C intron_variant ESAD-UK 12 41797241 41797241 single base substitution G A intron_variant ESAD-UK 12 41797688 41797688 single base substitution A C intron_variant ESAD-UK 12 41797808 41797808 single base substitution A C intron_variant ESAD-UK 12 41797898 41797898 single base substitution C A intron_variant ESAD-UK 12 41798144 41798144 single base substitution C A intron_variant ESAD-UK 12 41798658 41798658 insertion of <=200bp - A intron_variant ESAD-UK 12 41798803 41798803 single base substitution C G intron_variant ESAD-UK 12 41799034 41799034 single base substitution A T intron_variant ESAD-UK 12 41799951 41799951 single base substitution A C intron_variant ESAD-UK 12 41799959 41799959 deletion of <=200bp T - intron_variant ESAD-UK 12 41799963 41799963 single base substitution T G intron_variant ESAD-UK 12 41800287 41800287 single base substitution T G intron_variant ESAD-UK 12 41801712 41801712 single base substitution A G intron_variant ESAD-UK 12 41801985 41801985 single base substitution A G intron_variant ESAD-UK 12 41802048 41802048 single base substitution A T intron_variant ESAD-UK 12 41802086 41802086 single base substitution T C intron_variant ESAD-UK 12 41802235 41802235 single base substitution A C intron_variant ESAD-UK 12 41802379 41802379 single base substitution A C intron_variant ESAD-UK 12 41802379 41802379 single base substitution A G intron_variant ESAD-UK 12 41802709 41802709 single base substitution T A intron_variant ESAD-UK 12 41803099 41803099 single base substitution T A intron_variant ESAD-UK 12 41803149 41803149 single base substitution A C intron_variant ESAD-UK 12 41803351 41803351 single base substitution A C intron_variant ESAD-UK 12 41803666 41803666 single base substitution T G intron_variant ESAD-UK 12 41803675 41803675 single base substitution C A intron_variant ESAD-UK 12 41803792 41803792 single base substitution C A intron_variant ESAD-UK 12 41803897 41803897 single base substitution A C intron_variant ESAD-UK 12 41804583 41804583 single base substitution G A intron_variant ESAD-UK 12 41804592 41804592 single base substitution T G intron_variant ESAD-UK 12 41804620 41804620 single base substitution G C intron_variant ESAD-UK 12 41804726 41804726 single base substitution G T intron_variant ESAD-UK 12 41805210 41805210 single base substitution C A intron_variant ESAD-UK 12 41805211 41805211 single base substitution T G intron_variant ESAD-UK 12 41806139 41806139 single base substitution A T intron_variant ESAD-UK 12 41806519 41806519 single base substitution T C intron_variant ESAD-UK 12 41806606 41806606 single base substitution A C intron_variant ESAD-UK 12 41806741 41806741 single base substitution A C intron_variant ESAD-UK 12 41807239 41807239 single base substitution A C intron_variant ESAD-UK 12 41807239 41807239 single base substitution A G intron_variant ESAD-UK 12 41807304 41807304 single base substitution A G intron_variant ESAD-UK 12 41807641 41807641 single base substitution T A intron_variant ESAD-UK 12 41807911 41807911 single base substitution T G intron_variant ESAD-UK 12 41808143 41808143 single base substitution A C intron_variant ESAD-UK 12 41808389 41808389 single base substitution A C intron_variant ESAD-UK 12 41808752 41808752 single base substitution A G intron_variant ESAD-UK 12 41808860 41808860 single base substitution A G intron_variant ESAD-UK 12 41809179 41809179 insertion of <=200bp - TA intron_variant ESAD-UK 12 41809343 41809343 single base substitution A T intron_variant ESAD-UK 12 41809914 41809914 single base substitution G A intron_variant ESAD-UK 12 41810296 41810296 single base substitution A C intron_variant ESAD-UK 12 41810298 41810298 single base substitution A C intron_variant ESAD-UK 12 41810650 41810650 single base substitution A G intron_variant ESAD-UK 12 41810820 41810820 single base substitution A G intron_variant ESAD-UK 12 41811448 41811448 single base substitution A C intron_variant ESAD-UK 12 41811479 41811479 single base substitution A T intron_variant ESAD-UK 12 41811513 41811513 single base substitution T C intron_variant ESAD-UK 12 41811543 41811543 single base substitution A G intron_variant ESAD-UK 12 41811595 41811595 single base substitution A G intron_variant ESAD-UK 12 41811682 41811682 single base substitution T G intron_variant ESAD-UK 12 41812690 41812690 single base substitution A C intron_variant ESAD-UK 12 41812913 41812913 single base substitution A T intron_variant ESAD-UK 12 41812950 41812950 single base substitution T C intron_variant ESAD-UK 12 41813224 41813224 single base substitution T G intron_variant ESAD-UK 12 41813372 41813372 single base substitution T C intron_variant ESAD-UK 12 41813561 41813561 single base substitution G A intron_variant ESAD-UK 12 41813912 41813912 single base substitution G A intron_variant ESAD-UK 12 41814272 41814272 single base substitution C G intron_variant ESAD-UK 12 41814538 41814538 single base substitution A G intron_variant ESAD-UK 12 41814593 41814593 single base substitution T C intron_variant ESAD-UK 12 41814853 41814853 single base substitution A T intron_variant ESAD-UK 12 41815121 41815121 single base substitution T C intron_variant ESAD-UK 12 41815260 41815260 single base substitution G C intron_variant ESAD-UK 12 41815376 41815376 single base substitution T C intron_variant ESAD-UK 12 41815817 41815817 single base substitution T C intron_variant ESAD-UK 12 41816393 41816393 insertion of <=200bp - GA intron_variant ESAD-UK 12 41816892 41816892 single base substitution A T intron_variant ESAD-UK 12 41817015 41817015 single base substitution G A intron_variant ESAD-UK 12 41817133 41817133 single base substitution T C intron_variant ESAD-UK 12 41817251 41817251 single base substitution T A intron_variant ESAD-UK 12 41817373 41817373 single base substitution A C intron_variant ESAD-UK 12 41817502 41817502 single base substitution T C intron_variant ESAD-UK 12 41818151 41818151 single base substitution C A intron_variant ESAD-UK 12 41818341 41818341 single base substitution T G intron_variant ESAD-UK 12 41818378 41818378 single base substitution A T intron_variant ESAD-UK 12 41818397 41818397 single base substitution A C intron_variant ESAD-UK 12 41818471 41818471 single base substitution T G intron_variant ESAD-UK 12 41818496 41818496 single base substitution A C intron_variant ESAD-UK 12 41818501 41818501 single base substitution T G intron_variant ESAD-UK 12 41818554 41818554 single base substitution T A intron_variant ESAD-UK 12 41818593 41818593 single base substitution T G intron_variant ESAD-UK 12 41818716 41818716 single base substitution C A intron_variant ESAD-UK 12 41819170 41819170 single base substitution A G intron_variant ESAD-UK 12 41819299 41819299 single base substitution T G intron_variant ESAD-UK 12 41819476 41819476 single base substitution T G intron_variant ESAD-UK 12 41819715 41819715 single base substitution G C intron_variant ESAD-UK 12 41820458 41820458 single base substitution G A intron_variant ESAD-UK 12 41820491 41820491 single base substitution T C intron_variant ESAD-UK 12 41820760 41820760 single base substitution A C intron_variant ESAD-UK 12 41821891 41821891 single base substitution A G intron_variant ESAD-UK 12 41821980 41821980 insertion of <=200bp - TA intron_variant ESAD-UK 12 41822158 41822158 single base substitution T A intron_variant ESAD-UK 12 41823293 41823293 single base substitution T G intron_variant ESAD-UK 12 41823649 41823649 single base substitution A T intron_variant ESAD-UK 12 41824534 41824534 single base substitution A G intron_variant ESAD-UK 12 41824774 41824774 single base substitution C T intron_variant ESAD-UK 12 41824994 41824994 single base substitution T G intron_variant ESAD-UK 12 41825146 41825146 single base substitution G A intron_variant ESAD-UK 12 41825231 41825231 single base substitution G A intron_variant ESAD-UK 12 41825502 41825502 single base substitution T C intron_variant ESAD-UK 12 41825911 41825911 single base substitution G A intron_variant ESAD-UK 12 41825957 41825957 single base substitution A T intron_variant ESAD-UK 12 41826063 41826063 single base substitution T G intron_variant ESAD-UK 12 41826167 41826167 single base substitution T C intron_variant ESAD-UK 12 41826247 41826247 single base substitution A G intron_variant ESAD-UK 12 41826259 41826259 single base substitution T G intron_variant ESAD-UK 12 41826428 41826428 single base substitution A T intron_variant ESAD-UK 12 41826941 41826941 single base substitution A T intron_variant ESAD-UK 12 41826941 41826941 single base substitution A T upstream_gene_variant ESAD-UK 12 41827154 41827154 single base substitution G A intron_variant ESAD-UK 12 41827154 41827154 single base substitution G A upstream_gene_variant ESAD-UK 12 41827366 41827366 single base substitution G A intron_variant ESAD-UK 12 41827366 41827366 single base substitution G A upstream_gene_variant ESAD-UK 12 41827816 41827816 single base substitution G A intron_variant ESAD-UK 12 41827816 41827816 single base substitution G A upstream_gene_variant ESAD-UK 12 41828006 41828006 single base substitution T C intron_variant ESAD-UK 12 41828006 41828006 single base substitution T C upstream_gene_variant ESAD-UK 12 41828479 41828479 single base substitution G T intron_variant ESAD-UK 12 41828479 41828479 single base substitution G T upstream_gene_variant ESAD-UK 12 41828962 41828962 single base substitution G C intron_variant ESAD-UK 12 41828962 41828962 single base substitution G C upstream_gene_variant ESAD-UK 12 41829154 41829154 single base substitution G A intron_variant ESAD-UK 12 41829154 41829154 single base substitution G A upstream_gene_variant ESAD-UK 12 41829357 41829357 single base substitution G A intron_variant ESAD-UK 12 41829357 41829357 single base substitution G A upstream_gene_variant ESAD-UK 12 41829493 41829493 single base substitution G T intron_variant ESAD-UK 12 41829493 41829493 single base substitution G T upstream_gene_variant ESAD-UK 12 41829713 41829713 single base substitution A C intron_variant ESAD-UK 12 41829713 41829713 single base substitution A C upstream_gene_variant ESAD-UK 12 41829766 41829766 single base substitution A C intron_variant ESAD-UK 12 41829766 41829766 single base substitution A C upstream_gene_variant ESAD-UK 12 41830885 41830885 single base substitution T C intron_variant ESAD-UK 12 41830885 41830885 single base substitution T C upstream_gene_variant ESAD-UK 12 41830898 41830898 single base substitution C T intron_variant ESAD-UK 12 41830898 41830898 single base substitution C T upstream_gene_variant ESAD-UK 12 41830913 41830913 single base substitution T G intron_variant ESAD-UK 12 41830913 41830913 single base substitution T G upstream_gene_variant ESAD-UK 12 41831248 41831248 insertion of <=200bp - T intron_variant ESAD-UK 12 41831248 41831248 insertion of <=200bp - T upstream_gene_variant ESAD-UK 12 41831564 41831564 single base substitution A C 5_prime_UTR_variant ESAD-UK 12 41831564 41831564 single base substitution A C intron_variant ESAD-UK 12 41832103 41832103 single base substitution T G intron_variant ESAD-UK 12 41832171 41832171 single base substitution A G intron_variant ESAD-UK 12 41832721 41832721 single base substitution A C intron_variant ESAD-UK 12 41834210 41834210 single base substitution C A intron_variant ESAD-UK 12 41834398 41834398 single base substitution C A intron_variant ESAD-UK 12 41834537 41834537 single base substitution T G intron_variant ESAD-UK 12 41834797 41834797 single base substitution A C intron_variant ESAD-UK 12 41834843 41834843 single base substitution T G intron_variant ESAD-UK 12 41835083 41835083 single base substitution A G intron_variant ESAD-UK 12 41835089 41835089 single base substitution A C intron_variant ESAD-UK 12 41835994 41835994 deletion of <=200bp T - intron_variant ESAD-UK 12 41836074 41836074 single base substitution T C intron_variant ESAD-UK 12 41836171 41836171 single base substitution T A intron_variant ESAD-UK 12 41836172 41836172 single base substitution A T intron_variant ESAD-UK 12 41836397 41836397 single base substitution A C intron_variant ESAD-UK 12 41836529 41836529 single base substitution G T intron_variant ESAD-UK 12 41837311 41837311 single base substitution T G intron_variant ESAD-UK 12 41837506 41837506 single base substitution A T intron_variant ESAD-UK 12 41837697 41837697 single base substitution A G intron_variant ESAD-UK 12 41837736 41837736 single base substitution A C intron_variant ESAD-UK 12 41838460 41838460 single base substitution T A intron_variant ESAD-UK 12 41839181 41839181 single base substitution A T intron_variant ESAD-UK 12 41839347 41839347 single base substitution T G intron_variant ESAD-UK 12 41840020 41840020 single base substitution A T intron_variant ESAD-UK 12 41840415 41840415 single base substitution A T intron_variant ESAD-UK 12 41840511 41840511 single base substitution G A intron_variant ESAD-UK 12 41840540 41840540 single base substitution G T intron_variant ESAD-UK 12 41841280 41841280 single base substitution G T intron_variant ESAD-UK 12 41841636 41841636 single base substitution T G intron_variant ESAD-UK 12 41841693 41841693 single base substitution A G intron_variant ESAD-UK 12 41841809 41841809 single base substitution C T intron_variant ESAD-UK 12 41842081 41842081 single base substitution T C intron_variant ESAD-UK 12 41842683 41842683 single base substitution T G intron_variant ESAD-UK 12 41842714 41842714 single base substitution C A intron_variant ESAD-UK 12 41842949 41842949 single base substitution T G intron_variant ESAD-UK 12 41843038 41843038 single base substitution A C intron_variant ESAD-UK 12 41843113 41843113 single base substitution T G intron_variant ESAD-UK 12 41843129 41843129 single base substitution A C intron_variant ESAD-UK 12 41843688 41843688 single base substitution A G intron_variant ESAD-UK 12 41844112 41844112 single base substitution A G intron_variant ESAD-UK 12 41844164 41844164 single base substitution T C intron_variant ESAD-UK 12 41844239 41844239 single base substitution T G intron_variant ESAD-UK 12 41844600 41844600 single base substitution C T intron_variant ESAD-UK 12 41844858 41844858 single base substitution G T intron_variant ESAD-UK 12 41845267 41845267 single base substitution G A intron_variant ESAD-UK 12 41845663 41845663 single base substitution T C intron_variant ESAD-UK 12 41845736 41845736 single base substitution A G intron_variant ESAD-UK 12 41845888 41845888 single base substitution A G intron_variant ESAD-UK 12 41845927 41845927 insertion of <=200bp - C intron_variant ESAD-UK 12 41846191 41846191 single base substitution A C intron_variant ESAD-UK 12 41846390 41846390 single base substitution A G intron_variant ESAD-UK 12 41847079 41847079 single base substitution T G intron_variant ESAD-UK 12 41847663 41847663 single base substitution G A intron_variant ESAD-UK 12 41848696 41848696 single base substitution A C intron_variant ESAD-UK 12 41849057 41849057 single base substitution G T intron_variant ESAD-UK 12 41849136 41849136 single base substitution T C intron_variant ESAD-UK 12 41849284 41849284 single base substitution A C intron_variant ESAD-UK 12 41849537 41849537 single base substitution T G intron_variant ESAD-UK 12 41849549 41849549 single base substitution T A intron_variant ESAD-UK 12 41849575 41849575 single base substitution A T intron_variant ESAD-UK 12 41850096 41850096 single base substitution T G intron_variant ESAD-UK 12 41850490 41850490 single base substitution T C intron_variant ESAD-UK 12 41850754 41850754 single base substitution A C intron_variant ESAD-UK 12 41851479 41851479 single base substitution C T intron_variant ESAD-UK 12 41851482 41851482 single base substitution G A intron_variant ESAD-UK 12 41852416 41852416 single base substitution A C intron_variant ESAD-UK 12 41853047 41853047 single base substitution T G intron_variant ESAD-UK 12 41853279 41853279 single base substitution A T intron_variant ESAD-UK 12 41853738 41853738 insertion of <=200bp - C intron_variant ESAD-UK 12 41854659 41854659 single base substitution T C intron_variant ESAD-UK 12 41855178 41855178 single base substitution T C intron_variant ESAD-UK 12 41855190 41855190 single base substitution A G intron_variant ESAD-UK 12 41855739 41855739 single base substitution C T intron_variant ESAD-UK 12 41855841 41855841 single base substitution A T intron_variant ESAD-UK 12 41856206 41856206 single base substitution A G intron_variant ESAD-UK 12 41856534 41856534 single base substitution G T intron_variant ESAD-UK 12 41856551 41856551 single base substitution T G intron_variant ESAD-UK 12 41856870 41856870 single base substitution C T intron_variant ESAD-UK 12 41857086 41857086 single base substitution T G intron_variant ESAD-UK 12 41857100 41857100 insertion of <=200bp - A intron_variant ESAD-UK 12 41857119 41857119 single base substitution A C intron_variant ESAD-UK 12 41857128 41857128 single base substitution T C intron_variant ESAD-UK 12 41857264 41857264 single base substitution A C intron_variant ESAD-UK 12 41857969 41857969 single base substitution C A intron_variant ESAD-UK 12 41858508 41858508 single base substitution A C intron_variant ESAD-UK 12 41858572 41858572 single base substitution G A intron_variant ESAD-UK 12 41859065 41859065 single base substitution A G intron_variant ESAD-UK 12 41859237 41859237 single base substitution A C intron_variant ESAD-UK 12 41859493 41859493 single base substitution G T intron_variant ESAD-UK 12 41859696 41859696 insertion of <=200bp - G intron_variant ESAD-UK 12 41859740 41859740 single base substitution C A intron_variant ESAD-UK 12 41860169 41860169 single base substitution G A intron_variant ESAD-UK 12 41860432 41860432 single base substitution A C intron_variant ESAD-UK 12 41861055 41861055 single base substitution T A intron_variant ESAD-UK 12 41861055 41861055 single base substitution T G intron_variant ESAD-UK 12 41861768 41861768 single base substitution T G intron_variant ESAD-UK 12 41861922 41861922 single base substitution G T intron_variant ESAD-UK 12 41862139 41862139 single base substitution A C intron_variant ESAD-UK 12 41863717 41863717 single base substitution G T intron_variant ESAD-UK 12 41863878 41863878 single base substitution A G intron_variant ESAD-UK 12 41864100 41864100 single base substitution A G intron_variant ESAD-UK 12 41864467 41864467 single base substitution C A intron_variant ESAD-UK 12 41864539 41864539 single base substitution T G intron_variant ESAD-UK 12 41865259 41865259 single base substitution A G intron_variant ESAD-UK 12 41865871 41865871 single base substitution T A intron_variant ESAD-UK 12 41866290 41866290 single base substitution T G intron_variant ESAD-UK 12 41866795 41866795 single base substitution C T intron_variant ESAD-UK 12 41866900 41866900 insertion of <=200bp - T intron_variant ESAD-UK 12 41867130 41867130 single base substitution T C intron_variant ESAD-UK 12 41867260 41867260 single base substitution A C intron_variant ESAD-UK 12 41868493 41868493 single base substitution C T intron_variant ESAD-UK 12 41869916 41869916 single base substitution A G intron_variant ESAD-UK 12 41870317 41870317 single base substitution G T intron_variant ESAD-UK 12 41870405 41870405 deletion of <=200bp T - intron_variant ESAD-UK 12 41871040 41871040 single base substitution T G intron_variant ESAD-UK 12 41871304 41871304 single base substitution T A intron_variant ESAD-UK 12 41871652 41871652 single base substitution T A intron_variant ESAD-UK 12 41871876 41871876 single base substitution G A intron_variant ESAD-UK 12 41871911 41871911 single base substitution A C intron_variant ESAD-UK 12 41871914 41871914 single base substitution T A intron_variant ESAD-UK 12 41872301 41872301 single base substitution A T intron_variant ESAD-UK 12 41872561 41872561 single base substitution T G intron_variant ESAD-UK 12 41872826 41872826 single base substitution A G intron_variant ESAD-UK 12 41872851 41872851 single base substitution A C intron_variant ESAD-UK 12 41873291 41873291 single base substitution A G intron_variant ESAD-UK 12 41873315 41873315 single base substitution A T intron_variant ESAD-UK 12 41873599 41873599 single base substitution A C intron_variant ESAD-UK 12 41874108 41874108 single base substitution A C intron_variant ESAD-UK 12 41875249 41875249 single base substitution A C intron_variant ESAD-UK 12 41875409 41875409 single base substitution C A intron_variant ESAD-UK 12 41875479 41875479 single base substitution T C intron_variant ESAD-UK 12 41875852 41875852 single base substitution G T intron_variant ESAD-UK 12 41876295 41876295 single base substitution T C intron_variant ESAD-UK 12 41876514 41876514 single base substitution T C intron_variant ESAD-UK 12 41877547 41877547 single base substitution T A intron_variant ESAD-UK 12 41877790 41877790 insertion of <=200bp - A intron_variant ESAD-UK 12 41877850 41877850 single base substitution A C intron_variant ESAD-UK 12 41877901 41877901 deletion of <=200bp T - intron_variant ESAD-UK 12 41879191 41879191 single base substitution C T intron_variant ESAD-UK 12 41880118 41880118 single base substitution T G intron_variant ESAD-UK 12 41880513 41880513 single base substitution C G intron_variant ESAD-UK 12 41880707 41880707 single base substitution T G intron_variant ESAD-UK 12 41881459 41881459 single base substitution A C intron_variant ESAD-UK 12 41881761 41881761 single base substitution A T intron_variant ESAD-UK 12 41882179 41882179 single base substitution T G intron_variant ESAD-UK 12 41882961 41882961 single base substitution T G intron_variant ESAD-UK 12 41883077 41883077 single base substitution T C intron_variant ESAD-UK 12 41883241 41883241 single base substitution T C intron_variant ESAD-UK 12 41883466 41883466 single base substitution A T intron_variant ESAD-UK 12 41884730 41884730 single base substitution A T intron_variant ESAD-UK 12 41884810 41884810 single base substitution A C intron_variant ESAD-UK 12 41885173 41885173 single base substitution A T intron_variant ESAD-UK 12 41885215 41885215 single base substitution T G intron_variant ESAD-UK 12 41885387 41885387 single base substitution G T intron_variant ESAD-UK 12 41885389 41885389 single base substitution A T intron_variant ESAD-UK 12 41885596 41885596 single base substitution A G intron_variant ESAD-UK 12 41885970 41885970 single base substitution T G intron_variant ESAD-UK 12 41885971 41885971 single base substitution T G intron_variant ESAD-UK 12 41886182 41886182 single base substitution T C intron_variant ESAD-UK 12 41886207 41886207 single base substitution T G intron_variant ESAD-UK 12 41886462 41886462 single base substitution A C intron_variant ESAD-UK 12 41886662 41886662 single base substitution C T intron_variant ESAD-UK 12 41886884 41886884 single base substitution G C intron_variant ESAD-UK 12 41887722 41887722 single base substitution T A intron_variant ESAD-UK 12 41888032 41888032 single base substitution A C intron_variant ESAD-UK 12 41888148 41888148 single base substitution T C intron_variant ESAD-UK 12 41888447 41888447 single base substitution T A intron_variant ESAD-UK 12 41888715 41888715 single base substitution T G intron_variant ESAD-UK 12 41889435 41889435 single base substitution A C intron_variant ESAD-UK 12 41889435 41889435 single base substitution A G intron_variant ESAD-UK 12 41889737 41889737 single base substitution G A intron_variant ESAD-UK 12 41889953 41889953 single base substitution T C intron_variant ESAD-UK 12 41890238 41890238 single base substitution A C intron_variant ESAD-UK 12 41890275 41890275 single base substitution T G intron_variant ESAD-UK 12 41890437 41890437 single base substitution T G intron_variant ESAD-UK 12 41891058 41891058 single base substitution A T intron_variant ESAD-UK 12 41891658 41891658 single base substitution G T intron_variant ESAD-UK 12 41891928 41891928 single base substitution T A intron_variant ESAD-UK 12 41892314 41892314 single base substitution G C intron_variant ESAD-UK 12 41892468 41892468 single base substitution A G intron_variant ESAD-UK 12 41892929 41892929 single base substitution T C intron_variant ESAD-UK 12 41893102 41893103 deletion of <=200bp AA - intron_variant ESAD-UK 12 41893115 41893115 single base substitution T G intron_variant ESAD-UK 12 41893156 41893156 single base substitution G T intron_variant ESAD-UK 12 41893529 41893529 single base substitution T G intron_variant ESAD-UK 12 41894140 41894140 single base substitution T G intron_variant ESAD-UK 12 41894200 41894200 single base substitution T A intron_variant ESAD-UK 12 41894317 41894317 single base substitution T G intron_variant ESAD-UK 12 41894511 41894511 single base substitution G T intron_variant ESAD-UK 12 41894535 41894535 single base substitution A C intron_variant ESAD-UK 12 41894545 41894545 deletion of <=200bp A - intron_variant ESAD-UK 12 41894545 41894545 insertion of <=200bp - A intron_variant ESAD-UK 12 41894605 41894605 single base substitution T G intron_variant ESAD-UK 12 41894770 41894770 single base substitution T G intron_variant ESAD-UK 12 41895062 41895062 single base substitution A T intron_variant ESAD-UK 12 41895453 41895453 insertion of <=200bp - G intron_variant ESAD-UK 12 41895468 41895468 single base substitution T G intron_variant ESAD-UK 12 41897379 41897379 single base substitution A G intron_variant ESAD-UK 12 41897621 41897621 single base substitution G T intron_variant ESAD-UK 12 41898216 41898216 single base substitution G T intron_variant ESAD-UK 12 41898534 41898534 single base substitution A C intron_variant ESAD-UK 12 41898534 41898534 single base substitution A C upstream_gene_variant ESAD-UK 12 41898564 41898564 single base substitution A G intron_variant ESAD-UK 12 41898564 41898564 single base substitution A G upstream_gene_variant ESAD-UK 12 41898577 41898577 single base substitution T A intron_variant ESAD-UK 12 41898577 41898577 single base substitution T A upstream_gene_variant ESAD-UK 12 41899223 41899223 single base substitution A C intron_variant ESAD-UK 12 41899223 41899223 single base substitution A C upstream_gene_variant ESAD-UK 12 41899602 41899602 single base substitution T G intron_variant ESAD-UK 12 41899602 41899602 single base substitution T G upstream_gene_variant ESAD-UK 12 41900635 41900635 single base substitution G A intron_variant ESAD-UK 12 41900635 41900635 single base substitution G A upstream_gene_variant ESAD-UK 12 41900639 41900639 single base substitution G A intron_variant ESAD-UK 12 41900639 41900639 single base substitution G A upstream_gene_variant ESAD-UK 12 41900832 41900832 single base substitution G C intron_variant ESAD-UK 12 41900832 41900832 single base substitution G C upstream_gene_variant ESAD-UK 12 41900896 41900896 single base substitution T G intron_variant ESAD-UK 12 41900896 41900896 single base substitution T G upstream_gene_variant ESAD-UK 12 41901059 41901059 single base substitution A C intron_variant ESAD-UK 12 41901059 41901059 single base substitution A C upstream_gene_variant ESAD-UK 12 41901128 41901128 single base substitution A C intron_variant ESAD-UK 12 41901128 41901128 single base substitution A C upstream_gene_variant ESAD-UK 12 41901473 41901473 single base substitution T G intron_variant ESAD-UK 12 41901473 41901473 single base substitution T G upstream_gene_variant ESAD-UK 12 41901597 41901597 single base substitution T C intron_variant ESAD-UK 12 41901597 41901597 single base substitution T C upstream_gene_variant ESAD-UK 12 41901968 41901968 single base substitution A C intron_variant ESAD-UK 12 41901968 41901968 single base substitution A C upstream_gene_variant ESAD-UK 12 41902310 41902310 single base substitution G A intron_variant ESAD-UK 12 41902310 41902310 single base substitution G A upstream_gene_variant ESAD-UK 12 41902350 41902350 single base substitution T C intron_variant ESAD-UK 12 41902350 41902350 single base substitution T C upstream_gene_variant ESAD-UK 12 41902417 41902417 single base substitution C A intron_variant ESAD-UK 12 41902417 41902417 single base substitution C A upstream_gene_variant ESAD-UK 12 41902680 41902680 single base substitution A T intron_variant ESAD-UK 12 41902680 41902680 single base substitution A T upstream_gene_variant ESAD-UK 12 41902955 41902955 single base substitution G C intron_variant ESAD-UK 12 41902955 41902955 single base substitution G C upstream_gene_variant ESAD-UK 12 41903028 41903028 single base substitution T C intron_variant ESAD-UK 12 41903028 41903028 single base substitution T C upstream_gene_variant ESAD-UK 12 41903217 41903217 single base substitution T C intron_variant ESAD-UK 12 41903217 41903217 single base substitution T C upstream_gene_variant ESAD-UK 12 41903563 41903563 single base substitution G T exon_variant ESAD-UK 12 41903563 41903563 single base substitution G T intron_variant ESAD-UK 12 41903754 41903754 single base substitution A C intron_variant ESAD-UK 12 41904335 41904335 single base substitution T C intron_variant ESAD-UK 12 41904551 41904551 single base substitution T G intron_variant ESAD-UK 12 41904733 41904733 single base substitution T G intron_variant ESAD-UK 12 41904751 41904751 single base substitution A T intron_variant ESAD-UK 12 41905030 41905030 single base substitution G T intron_variant ESAD-UK 12 41905499 41905499 single base substitution G T intron_variant ESAD-UK 12 41905811 41905811 single base substitution G T intron_variant ESAD-UK 12 41906322 41906322 single base substitution A T intron_variant ESAD-UK 12 41906404 41906404 single base substitution G A intron_variant ESAD-UK 12 41907246 41907246 single base substitution C A intron_variant ESAD-UK 12 41907397 41907397 single base substitution A G intron_variant ESAD-UK 12 41907398 41907398 single base substitution G T intron_variant ESAD-UK 12 41908228 41908228 single base substitution A T intron_variant ESAD-UK 12 41908374 41908374 single base substitution C G intron_variant ESAD-UK 12 41909239 41909239 deletion of <=200bp A - intron_variant ESAD-UK 12 41909331 41909331 single base substitution G T intron_variant ESAD-UK 12 41909591 41909591 single base substitution G T intron_variant ESAD-UK 12 41909874 41909874 single base substitution C T intron_variant ESAD-UK 12 41910193 41910193 single base substitution T C intron_variant ESAD-UK 12 41910216 41910216 single base substitution A C intron_variant ESAD-UK 12 41910303 41910303 single base substitution G A intron_variant ESAD-UK 12 41910968 41910968 single base substitution A C intron_variant ESAD-UK 12 41910997 41910997 single base substitution T G intron_variant ESAD-UK 12 41911393 41911393 single base substitution G T intron_variant ESAD-UK 12 41912197 41912197 single base substitution G A intron_variant ESAD-UK 12 41912206 41912206 single base substitution T G intron_variant ESAD-UK 12 41912207 41912207 single base substitution T G intron_variant ESAD-UK 12 41912287 41912287 single base substitution A G intron_variant ESAD-UK 12 41912315 41912315 single base substitution C T intron_variant ESAD-UK 12 41912609 41912609 single base substitution G A intron_variant ESAD-UK 12 41912646 41912646 single base substitution G C intron_variant ESAD-UK 12 41912667 41912667 single base substitution T C intron_variant ESAD-UK 12 41913476 41913476 single base substitution T G intron_variant ESAD-UK 12 41913487 41913487 single base substitution A G intron_variant ESAD-UK 12 41913547 41913547 single base substitution A C intron_variant ESAD-UK 12 41913637 41913637 single base substitution A C intron_variant ESAD-UK 12 41913639 41913639 single base substitution T G intron_variant ESAD-UK 12 41913678 41913678 single base substitution A C intron_variant ESAD-UK 12 41913884 41913884 single base substitution C A intron_variant ESAD-UK 12 41913974 41913974 single base substitution A C intron_variant ESAD-UK 12 41914081 41914081 single base substitution T G intron_variant ESAD-UK 12 41914829 41914829 single base substitution T C intron_variant ESAD-UK 12 41915117 41915117 single base substitution T C intron_variant ESAD-UK 12 41915206 41915206 deletion of <=200bp A - intron_variant ESAD-UK 12 41915493 41915493 single base substitution A G intron_variant ESAD-UK 12 41915703 41915703 single base substitution C G intron_variant ESAD-UK 12 41915976 41915976 single base substitution A C intron_variant ESAD-UK 12 41917087 41917087 single base substitution A T intron_variant ESAD-UK 12 41917547 41917547 single base substitution A C intron_variant ESAD-UK 12 41918606 41918606 single base substitution A C intron_variant ESAD-UK 12 41918606 41918606 single base substitution A G intron_variant ESAD-UK 12 41918667 41918667 single base substitution A C intron_variant ESAD-UK 12 41918696 41918696 single base substitution A G intron_variant ESAD-UK 12 41918888 41918888 single base substitution A C intron_variant ESAD-UK 12 41919001 41919001 single base substitution A G intron_variant ESAD-UK 12 41919276 41919276 single base substitution A T intron_variant ESAD-UK 12 41919933 41919933 single base substitution C A intron_variant ESAD-UK 12 41920007 41920007 single base substitution A C intron_variant ESAD-UK 12 41920442 41920442 single base substitution T G intron_variant ESAD-UK 12 41920896 41920896 single base substitution G C intron_variant ESAD-UK 12 41920927 41920927 single base substitution T G intron_variant ESAD-UK 12 41921663 41921663 single base substitution A T intron_variant ESAD-UK 12 41922573 41922573 single base substitution A C intron_variant ESAD-UK 12 41922671 41922671 single base substitution G T intron_variant ESAD-UK 12 41922719 41922719 single base substitution C G intron_variant ESAD-UK 12 41922843 41922843 single base substitution T G intron_variant ESAD-UK 12 41923338 41923338 single base substitution T G intron_variant ESAD-UK 12 41923381 41923381 single base substitution C G intron_variant ESAD-UK 12 41923459 41923459 single base substitution C A intron_variant ESAD-UK 12 41923499 41923499 single base substitution T G intron_variant ESAD-UK 12 41923623 41923623 single base substitution T C intron_variant ESAD-UK 12 41923654 41923654 single base substitution G A intron_variant ESAD-UK 12 41923879 41923879 single base substitution A T intron_variant ESAD-UK 12 41923887 41923887 single base substitution G T intron_variant ESAD-UK 12 41924098 41924098 single base substitution T A intron_variant ESAD-UK 12 41924109 41924109 single base substitution A C intron_variant ESAD-UK 12 41924109 41924109 single base substitution A G intron_variant ESAD-UK 12 41924494 41924494 single base substitution T A intron_variant ESAD-UK 12 41925259 41925259 single base substitution G A intron_variant ESAD-UK 12 41925812 41925812 single base substitution G T intron_variant ESAD-UK 12 41926159 41926159 single base substitution T C intron_variant ESAD-UK 12 41926733 41926733 single base substitution T A intron_variant ESAD-UK 12 41926748 41926748 single base substitution G T intron_variant ESAD-UK 12 41926845 41926845 single base substitution T A intron_variant ESAD-UK 12 41926972 41926972 single base substitution T G intron_variant ESAD-UK 12 41927209 41927209 single base substitution T C intron_variant ESAD-UK 12 41927220 41927220 single base substitution C A intron_variant ESAD-UK 12 41927355 41927355 single base substitution A C intron_variant ESAD-UK 12 41927397 41927397 single base substitution T G intron_variant ESAD-UK 12 41927647 41927647 single base substitution T G intron_variant ESAD-UK 12 41927720 41927720 deletion of <=200bp T - intron_variant ESAD-UK 12 41927765 41927765 single base substitution A G intron_variant ESAD-UK 12 41927976 41927976 single base substitution A G intron_variant ESAD-UK 12 41928326 41928326 single base substitution T G intron_variant ESAD-UK 12 41928452 41928452 single base substitution A C intron_variant ESAD-UK 12 41929152 41929152 single base substitution T A intron_variant ESAD-UK 12 41929152 41929152 single base substitution T G intron_variant ESAD-UK 12 41929888 41929888 single base substitution A C intron_variant ESAD-UK 12 41929900 41929900 single base substitution A C intron_variant ESAD-UK 12 41930061 41930061 single base substitution A G intron_variant ESAD-UK 12 41930104 41930104 single base substitution A C intron_variant ESAD-UK 12 41930234 41930234 single base substitution G A intron_variant ESAD-UK 12 41930834 41930834 single base substitution C T intron_variant ESAD-UK 12 41931042 41931042 single base substitution G A intron_variant ESAD-UK 12 41931048 41931048 single base substitution A C intron_variant ESAD-UK 12 41931072 41931072 single base substitution T G intron_variant ESAD-UK 12 41931423 41931423 single base substitution A G intron_variant ESAD-UK 12 41931957 41931957 single base substitution A C intron_variant ESAD-UK 12 41932350 41932350 single base substitution G T intron_variant ESAD-UK 12 41932701 41932701 single base substitution T C intron_variant ESAD-UK 12 41933297 41933297 single base substitution T C intron_variant ESAD-UK 12 41933361 41933361 single base substitution A C intron_variant ESAD-UK 12 41933576 41933576 single base substitution A G intron_variant ESAD-UK 12 41935112 41935112 single base substitution T C intron_variant ESAD-UK 12 41935146 41935146 single base substitution C G intron_variant ESAD-UK 12 41935382 41935382 single base substitution A G intron_variant ESAD-UK 12 41936153 41936153 single base substitution A T intron_variant ESAD-UK 12 41936162 41936162 single base substitution A G intron_variant ESAD-UK 12 41936757 41936757 single base substitution A C intron_variant ESAD-UK 12 41937396 41937396 single base substitution T G intron_variant ESAD-UK 12 41937505 41937505 single base substitution A C intron_variant ESAD-UK 12 41937704 41937704 single base substitution A C intron_variant ESAD-UK 12 41937748 41937748 single base substitution A C intron_variant ESAD-UK 12 41937795 41937795 insertion of <=200bp - A intron_variant ESAD-UK 12 41937872 41937872 single base substitution T G intron_variant ESAD-UK 12 41938237 41938237 single base substitution A G intron_variant ESAD-UK 12 41938830 41938830 single base substitution T G intron_variant ESAD-UK 12 41939111 41939111 single base substitution A G intron_variant ESAD-UK 12 41939274 41939274 single base substitution A C intron_variant ESAD-UK 12 41940062 41940062 deletion of <=200bp G - intron_variant ESAD-UK 12 41940406 41940406 single base substitution C A intron_variant ESAD-UK 12 41940614 41940614 deletion of <=200bp C - intron_variant ESAD-UK 12 41941620 41941620 single base substitution A G intron_variant ESAD-UK 12 41941849 41941849 single base substitution A G intron_variant ESAD-UK 12 41942080 41942080 single base substitution G C intron_variant ESAD-UK 12 41942552 41942552 deletion of <=200bp T - intron_variant ESAD-UK 12 41942773 41942773 insertion of <=200bp - T intron_variant ESAD-UK 12 41943309 41943309 single base substitution T G intron_variant ESAD-UK 12 41943504 41943504 single base substitution A G intron_variant ESAD-UK 12 41943798 41943798 single base substitution T G intron_variant ESAD-UK 12 41944125 41944125 single base substitution C A intron_variant ESAD-UK 12 41944179 41944179 single base substitution A G intron_variant ESAD-UK 12 41944206 41944206 single base substitution C T intron_variant ESAD-UK 12 41944671 41944671 single base substitution C A intron_variant ESAD-UK 12 41945037 41945037 single base substitution C A intron_variant ESAD-UK 12 41945065 41945065 single base substitution A G intron_variant ESAD-UK 12 41945243 41945243 single base substitution T G intron_variant ESAD-UK 12 41945483 41945483 single base substitution G A intron_variant ESAD-UK 12 41945486 41945486 single base substitution T G intron_variant ESAD-UK 12 41946242 41946242 single base substitution T G intron_variant ESAD-UK 12 41946529 41946529 single base substitution A C exon_variant ESAD-UK 12 41946529 41946529 single base substitution A C missense_variant E165D 495A>C ESAD-UK 12 41946529 41946529 single base substitution A C missense_variant E167D 501A>C ESAD-UK 12 41946529 41946529 single base substitution A C missense_variant E425D 1275A>C ESAD-UK 12 41946611 41946611 single base substitution G A intron_variant ESAD-UK 12 41946846 41946846 single base substitution A C intron_variant ESAD-UK 12 41947185 41947185 single base substitution G A intron_variant ESAD-UK 12 41949276 41949276 single base substitution A C intron_variant ESAD-UK 12 41949278 41949278 single base substitution T G intron_variant ESAD-UK 12 41950095 41950095 single base substitution G C intron_variant ESAD-UK 12 41950298 41950298 single base substitution A G intron_variant ESAD-UK 12 41950608 41950608 single base substitution A C intron_variant ESAD-UK 12 41950812 41950812 single base substitution G A intron_variant ESAD-UK 12 41950844 41950844 single base substitution T A intron_variant ESAD-UK 12 41950844 41950844 single base substitution T C intron_variant ESAD-UK 12 41951119 41951119 single base substitution G A intron_variant ESAD-UK 12 41951122 41951122 single base substitution C T intron_variant ESAD-UK 12 41951171 41951171 single base substitution C A intron_variant ESAD-UK 12 41951228 41951228 single base substitution C T intron_variant ESAD-UK 12 41951316 41951316 single base substitution A T intron_variant ESAD-UK 12 41952418 41952418 single base substitution A T intron_variant ESAD-UK 12 41952552 41952552 single base substitution T G intron_variant ESAD-UK 12 41952871 41952871 single base substitution A C intron_variant ESAD-UK 12 41953516 41953516 single base substitution T G intron_variant ESAD-UK 12 41953540 41953540 single base substitution T G intron_variant ESAD-UK 12 41953685 41953685 insertion of <=200bp - T intron_variant ESAD-UK 12 41953697 41953697 single base substitution G T intron_variant ESAD-UK 12 41953698 41953698 single base substitution C T intron_variant ESAD-UK 12 41953934 41953934 single base substitution C T intron_variant ESAD-UK 12 41954090 41954090 single base substitution C T intron_variant ESAD-UK 12 41954774 41954774 single base substitution T G intron_variant ESAD-UK 12 41954892 41954892 single base substitution C A intron_variant ESAD-UK 12 41955287 41955287 single base substitution T G intron_variant ESAD-UK 12 41956004 41956004 insertion of <=200bp - AT intron_variant ESAD-UK 12 41956211 41956211 single base substitution A C intron_variant ESAD-UK 12 41956944 41956944 single base substitution C T intron_variant ESAD-UK 12 41957041 41957041 single base substitution G A intron_variant ESAD-UK 12 41957226 41957226 single base substitution A C intron_variant ESAD-UK 12 41958011 41958011 single base substitution C G intron_variant ESAD-UK 12 41958787 41958787 single base substitution C T intron_variant ESAD-UK 12 41959306 41959306 single base substitution A C intron_variant ESAD-UK 12 41959348 41959348 single base substitution C T intron_variant ESAD-UK 12 41959484 41959484 single base substitution T G intron_variant ESAD-UK 12 41959541 41959541 single base substitution T A intron_variant ESAD-UK 12 41959804 41959804 single base substitution T A intron_variant ESAD-UK 12 41959938 41959938 single base substitution C T intron_variant ESAD-UK 12 41960689 41960689 single base substitution A C intron_variant ESAD-UK 12 41961071 41961071 single base substitution T G intron_variant ESAD-UK 12 41961175 41961175 single base substitution G A intron_variant ESAD-UK 12 41962060 41962060 insertion of <=200bp - T intron_variant ESAD-UK 12 41963414 41963414 single base substitution G A intron_variant ESAD-UK 12 41964244 41964244 single base substitution A C intron_variant ESAD-UK 12 41964395 41964395 single base substitution A C intron_variant ESAD-UK 12 41964395 41964395 single base substitution A G intron_variant ESAD-UK 12 41964456 41964456 single base substitution A G intron_variant ESAD-UK 12 41964563 41964563 single base substitution A T intron_variant ESAD-UK 12 41964758 41964758 insertion of <=200bp - T intron_variant ESAD-UK 12 41964948 41964948 insertion of <=200bp - TA intron_variant ESAD-UK 12 41965251 41965251 single base substitution T G intron_variant ESAD-UK 12 41965253 41965253 single base substitution A C intron_variant ESAD-UK 12 41965266 41965266 single base substitution T G intron_variant ESAD-UK 12 41965359 41965359 single base substitution A G intron_variant ESAD-UK 12 41965673 41965673 single base substitution T C intron_variant ESAD-UK 12 41966380 41966380 single base substitution T C exon_variant ESAD-UK 12 41966380 41966380 single base substitution T C missense_variant L340P 1019T>C ESAD-UK 12 41966380 41966380 single base substitution T C missense_variant L342P 1025T>C ESAD-UK 12 41966380 41966380 single base substitution T C missense_variant L600P 1799T>C ESAD-UK 12 41966380 41966380 single base substitution T G exon_variant ESAD-UK 12 41966380 41966380 single base substitution T G missense_variant L340R 1019T>G ESAD-UK 12 41966380 41966380 single base substitution T G missense_variant L342R 1025T>G ESAD-UK 12 41966380 41966380 single base substitution T G missense_variant L600R 1799T>G ESAD-UK 12 41966690 41966690 single base substitution T G exon_variant ESAD-UK 12 41966690 41966690 single base substitution T G missense_variant H443Q 1329T>G ESAD-UK 12 41966690 41966690 single base substitution T G missense_variant H445Q 1335T>G ESAD-UK 12 41966690 41966690 single base substitution T G missense_variant H703Q 2109T>G ESAD-UK 12 41967331 41967331 single base substitution A G exon_variant ESAD-UK 12 41967331 41967331 single base substitution A G missense_variant K657R 1970A>G ESAD-UK 12 41967331 41967331 single base substitution A G missense_variant K659R 1976A>G ESAD-UK 12 41967331 41967331 single base substitution A G missense_variant K917R 2750A>G ESAD-UK 12 41967550 41967550 single base substitution T C exon_variant ESAD-UK 12 41967550 41967550 single base substitution T C missense_variant L730P 2189T>C ESAD-UK 12 41967550 41967550 single base substitution T C missense_variant L732P 2195T>C ESAD-UK 12 41967550 41967550 single base substitution T C missense_variant L990P 2969T>C ESAD-UK 12 41967598 41967598 single base substitution A C exon_variant ESAD-UK 12 41967598 41967598 single base substitution A C missense_variant N1006T 3017A>C ESAD-UK 12 41967598 41967598 single base substitution A C missense_variant N746T 2237A>C ESAD-UK 12 41967598 41967598 single base substitution A C missense_variant N748T 2243A>C ESAD-UK 12 41967881 41967881 single base substitution T A 3_prime_UTR_variant ESAD-UK 12 41967881 41967881 single base substitution T A exon_variant ESAD-UK 12 41968524 41968524 single base substitution A C downstream_gene_variant ESAD-UK 12 41968687 41968687 single base substitution A T downstream_gene_variant ESAD-UK 12 41969126 41969126 single base substitution C T downstream_gene_variant ESAD-UK 12 41969776 41969776 single base substitution G C downstream_gene_variant ESAD-UK 12 41969942 41969942 single base substitution T C downstream_gene_variant ESAD-UK 12 41969971 41969971 single base substitution A G downstream_gene_variant ESAD-UK 12 41970130 41970130 single base substitution A C downstream_gene_variant ESAD-UK 12 41970132 41970132 single base substitution T C downstream_gene_variant ESAD-UK 12 41970132 41970132 single base substitution T G downstream_gene_variant ESAD-UK 12 41970195 41970195 single base substitution T G downstream_gene_variant ESAD-UK 12 41970410 41970410 single base substitution G T downstream_gene_variant ESAD-UK 12 41970511 41970511 single base substitution T C downstream_gene_variant ESAD-UK 12 41970552 41970552 single base substitution T G downstream_gene_variant ESAD-UK 12 41970613 41970613 single base substitution C T downstream_gene_variant ESAD-UK 12 41970718 41970718 single base substitution G A downstream_gene_variant ESAD-UK 12 41970844 41970844 single base substitution A T downstream_gene_variant ESAD-UK 12 41970939 41970939 single base substitution A C downstream_gene_variant ESAD-UK 12 41971078 41971078 single base substitution T G downstream_gene_variant ESAD-UK 12 41971092 41971092 single base substitution T G downstream_gene_variant ESAD-UK 12 41971368 41971368 single base substitution T C downstream_gene_variant ESAD-UK 12 41971524 41971524 single base substitution C T downstream_gene_variant ESAD-UK 12 41971697 41971697 single base substitution T C downstream_gene_variant ESAD-UK 12 41971779 41971779 single base substitution C T downstream_gene_variant ESAD-UK 12 41972227 41972227 single base substitution A C downstream_gene_variant ESAD-UK 12 41972528 41972528 single base substitution A G downstream_gene_variant ESAD-UK 12 41973389 41973389 single base substitution T A downstream_gene_variant ESCA-CN 12 41946474 41946474 single base substitution G A exon_variant ESCA-CN 12 41946474 41946474 single base substitution G A missense_variant R147H 440G>A ESCA-CN 12 41946474 41946474 single base substitution G A missense_variant R149H 446G>A ESCA-CN 12 41946474 41946474 single base substitution G A missense_variant R407H 1220G>A ESCA-CN 12 41957409 41957409 single base substitution G C exon_variant ESCA-CN 12 41957409 41957409 single base substitution G C missense_variant E215D 645G>C ESCA-CN 12 41957409 41957409 single base substitution G C missense_variant E217D 651G>C ESCA-CN 12 41957409 41957409 single base substitution G C missense_variant E475D 1425G>C ESCA-CN 12 41966249 41966249 single base substitution A G exon_variant ESCA-CN 12 41966249 41966249 single base substitution A G synonymous_variant G296G 888A>G ESCA-CN 12 41966249 41966249 single base substitution A G synonymous_variant G298G 894A>G ESCA-CN 12 41966249 41966249 single base substitution A G synonymous_variant G556G 1668A>G GACA-CN 12 41831792 41831792 deletion of <=200bp A - 5_prime_UTR_variant GACA-CN 12 41831792 41831792 deletion of <=200bp A - frameshift_variant K16 GACA-CN 12 41831792 41831792 deletion of <=200bp A - intron_variant GACA-CN 12 41967111 41967111 single base substitution C G exon_variant GACA-CN 12 41967111 41967111 single base substitution C G missense_variant P584A 1750C>G GACA-CN 12 41967111 41967111 single base substitution C G missense_variant P586A 1756C>G GACA-CN 12 41967111 41967111 single base substitution C G missense_variant P844A 2530C>G GBM-US 12 41967365 41967365 single base substitution C T exon_variant GBM-US 12 41967365 41967365 single base substitution C T synonymous_variant D668D 2004C>T GBM-US 12 41967365 41967365 single base substitution C T synonymous_variant D670D 2010C>T GBM-US 12 41967365 41967365 single base substitution C T synonymous_variant D928D 2784C>T GBM-US 12 41967460 41967460 single base substitution G A exon_variant GBM-US 12 41967460 41967460 single base substitution G A missense_variant R700H 2099G>A GBM-US 12 41967460 41967460 single base substitution G A missense_variant R702H 2105G>A GBM-US 12 41967460 41967460 single base substitution G A missense_variant R960H 2879G>A KIRC-US 12 41966392 41966392 single base substitution A T exon_variant KIRC-US 12 41966392 41966392 single base substitution A T missense_variant E344V 1031A>T KIRC-US 12 41966392 41966392 single base substitution A T missense_variant E346V 1037A>T KIRC-US 12 41966392 41966392 single base substitution A T missense_variant E604V 1811A>T KIRP-US 12 41585335 41585335 single base substitution C T stop_gained R242* 724C>T KIRP-US 12 41966603 41966603 deletion of <=200bp A - exon_variant KIRP-US 12 41966603 41966603 deletion of <=200bp A - frameshift_variant R414 KIRP-US 12 41966603 41966603 deletion of <=200bp A - frameshift_variant R416 KIRP-US 12 41966603 41966603 deletion of <=200bp A - frameshift_variant R674 LAML-KR 12 41587972 41587972 single base substitution T C synonymous_variant I275I 825T>C LAML-KR 12 41949370 41949370 single base substitution T G intron_variant LAML-KR 12 41966306 41966306 single base substitution G A exon_variant LAML-KR 12 41966306 41966306 single base substitution G A synonymous_variant E315E 945G>A LAML-KR 12 41966306 41966306 single base substitution G A synonymous_variant E317E 951G>A LAML-KR 12 41966306 41966306 single base substitution G A synonymous_variant E575E 1725G>A LGG-US 12 41900316 41900316 single base substitution A G missense_variant N301S 902A>G LGG-US 12 41900316 41900316 single base substitution A G missense_variant N41S 122A>G LGG-US 12 41900316 41900316 single base substitution A G missense_variant N43S 128A>G LGG-US 12 41900316 41900316 single base substitution A G upstream_gene_variant LGG-US 12 41900459 41900459 single base substitution C G missense_variant L349V 1045C>G LGG-US 12 41900459 41900459 single base substitution C G missense_variant L89V 265C>G LGG-US 12 41900459 41900459 single base substitution C G missense_variant L91V 271C>G LGG-US 12 41900459 41900459 single base substitution C G upstream_gene_variant LICA-CN 12 41831803 41831803 single base substitution T A 5_prime_UTR_variant LICA-CN 12 41831803 41831803 single base substitution T A intron_variant LICA-CN 12 41831803 41831803 single base substitution T A stop_gained Y19* 57T>A LICA-CN 12 41966827 41966827 single base substitution C A exon_variant LICA-CN 12 41966827 41966827 single base substitution C A missense_variant P489Q 1466C>A LICA-CN 12 41966827 41966827 single base substitution C A missense_variant P491Q 1472C>A LICA-CN 12 41966827 41966827 single base substitution C A missense_variant P749Q 2246C>A LICA-FR 12 41579784 41579784 single base substitution A C upstream_gene_variant LICA-FR 12 41582547 41582547 single base substitution T A missense_variant L97Q 290T>A LICA-FR 12 41582732 41582732 single base substitution G T stop_gained G159* 475G>T LICA-FR 12 41587387 41587387 single base substitution C A intron_variant LICA-FR 12 41595445 41595445 single base substitution C A intron_variant LICA-FR 12 41609352 41609352 single base substitution G T intron_variant LICA-FR 12 41613889 41613889 single base substitution G T intron_variant LICA-FR 12 41613890 41613890 single base substitution G T intron_variant LICA-FR 12 41631410 41631410 single base substitution A G intron_variant LICA-FR 12 41632662 41632662 single base substitution G T intron_variant LICA-FR 12 41640558 41640558 single base substitution T C intron_variant LICA-FR 12 41644674 41644674 single base substitution A T intron_variant LICA-FR 12 41648035 41648035 single base substitution C T intron_variant LICA-FR 12 41654511 41654511 single base substitution A G intron_variant LICA-FR 12 41654521 41654521 single base substitution T C intron_variant LICA-FR 12 41654552 41654552 single base substitution C T intron_variant LICA-FR 12 41657207 41657207 single base substitution T C intron_variant LICA-FR 12 41661062 41661062 single base substitution T C intron_variant LICA-FR 12 41663586 41663586 single base substitution A G intron_variant LICA-FR 12 41671655 41671655 single base substitution T C intron_variant LICA-FR 12 41679715 41679715 single base substitution T C intron_variant LICA-FR 12 41681838 41681838 single base substitution T G intron_variant LICA-FR 12 41693350 41693350 single base substitution T C intron_variant LICA-FR 12 41708404 41708404 single base substitution C T intron_variant LICA-FR 12 41714125 41714125 single base substitution A G intron_variant LICA-FR 12 41726467 41726467 single base substitution G A intron_variant LICA-FR 12 41730613 41730613 single base substitution G A intron_variant LICA-FR 12 41745436 41745436 single base substitution A T intron_variant LICA-FR 12 41746452 41746452 single base substitution C A intron_variant LICA-FR 12 41749143 41749143 single base substitution G A intron_variant LICA-FR 12 41755391 41755391 single base substitution A T intron_variant LICA-FR 12 41763670 41763670 single base substitution C A intron_variant LICA-FR 12 41768655 41768655 single base substitution G T intron_variant LICA-FR 12 41772727 41772727 single base substitution T A intron_variant LICA-FR 12 41787187 41787187 single base substitution T C intron_variant LICA-FR 12 41788498 41788498 single base substitution C T intron_variant LICA-FR 12 41798641 41798641 single base substitution T A intron_variant LICA-FR 12 41806597 41806597 single base substitution A G intron_variant LICA-FR 12 41814426 41814426 single base substitution C T intron_variant LICA-FR 12 41820017 41820017 single base substitution C T intron_variant LICA-FR 12 41838005 41838005 single base substitution G T intron_variant LICA-FR 12 41844307 41844307 single base substitution T C intron_variant LICA-FR 12 41844685 41844685 single base substitution G A intron_variant LICA-FR 12 41847530 41847530 single base substitution A G intron_variant LICA-FR 12 41856661 41856661 single base substitution T G intron_variant LICA-FR 12 41868198 41868198 insertion of <=200bp - A intron_variant LICA-FR 12 41869313 41869313 single base substitution G A intron_variant LICA-FR 12 41872585 41872585 single base substitution C A intron_variant LICA-FR 12 41873063 41873063 single base substitution A T intron_variant LICA-FR 12 41881873 41881873 single base substitution A G intron_variant LICA-FR 12 41882913 41882913 single base substitution C G intron_variant LICA-FR 12 41883371 41883371 single base substitution A G intron_variant LICA-FR 12 41886648 41886648 single base substitution C T intron_variant LICA-FR 12 41890267 41890267 single base substitution T C intron_variant LICA-FR 12 41900495 41900495 single base substitution C A missense_variant P101T 301C>A LICA-FR 12 41900495 41900495 single base substitution C A missense_variant P103T 307C>A LICA-FR 12 41900495 41900495 single base substitution C A missense_variant P361T 1081C>A LICA-FR 12 41900495 41900495 single base substitution C A upstream_gene_variant LICA-FR 12 41912473 41912473 single base substitution T A intron_variant LICA-FR 12 41913994 41913994 single base substitution T A intron_variant LICA-FR 12 41915850 41915850 single base substitution A C intron_variant LICA-FR 12 41919997 41919997 single base substitution G C intron_variant LICA-FR 12 41922875 41922875 single base substitution T C intron_variant LICA-FR 12 41926892 41926892 insertion of <=200bp - T intron_variant LICA-FR 12 41932020 41932020 single base substitution T C intron_variant LICA-FR 12 41935372 41935372 single base substitution C A intron_variant LICA-FR 12 41935506 41935506 single base substitution C A intron_variant LICA-FR 12 41946474 41946474 single base substitution G A exon_variant LICA-FR 12 41946474 41946474 single base substitution G A missense_variant R147H 440G>A LICA-FR 12 41946474 41946474 single base substitution G A missense_variant R149H 446G>A LICA-FR 12 41946474 41946474 single base substitution G A missense_variant R407H 1220G>A LICA-FR 12 41951003 41951003 single base substitution C A intron_variant LICA-FR 12 41951867 41951867 single base substitution T C intron_variant LICA-FR 12 41957405 41957405 single base substitution A T exon_variant LICA-FR 12 41957405 41957405 single base substitution A T missense_variant D214V 641A>T LICA-FR 12 41957405 41957405 single base substitution A T missense_variant D216V 647A>T LICA-FR 12 41957405 41957405 single base substitution A T missense_variant D474V 1421A>T LICA-FR 12 41958181 41958181 single base substitution C A intron_variant LICA-FR 12 41962920 41962920 single base substitution A T intron_variant LICA-FR 12 41963465 41963465 single base substitution T C intron_variant LICA-FR 12 41965420 41965420 single base substitution T C intron_variant LICA-FR 12 41966391 41966391 single base substitution G A exon_variant LICA-FR 12 41966391 41966391 single base substitution G A missense_variant E344K 1030G>A LICA-FR 12 41966391 41966391 single base substitution G A missense_variant E346K 1036G>A LICA-FR 12 41966391 41966391 single base substitution G A missense_variant E604K 1810G>A LICA-FR 12 41967068 41967068 single base substitution C T exon_variant LICA-FR 12 41967068 41967068 single base substitution C T synonymous_variant Y569Y 1707C>T LICA-FR 12 41967068 41967068 single base substitution C T synonymous_variant Y571Y 1713C>T LICA-FR 12 41967068 41967068 single base substitution C T synonymous_variant Y829Y 2487C>T LIHC-US 12 41949558 41949558 single base substitution T A exon_variant LIHC-US 12 41949558 41949558 single base substitution T A stop_gained L194* 581T>A LIHC-US 12 41949558 41949558 single base substitution T A stop_gained L196* 587T>A LIHC-US 12 41949558 41949558 single base substitution T A stop_gained L454* 1361T>A LIHC-US 12 41957413 41957413 single base substitution A G exon_variant LIHC-US 12 41957413 41957413 single base substitution A G missense_variant K217E 649A>G LIHC-US 12 41957413 41957413 single base substitution A G missense_variant K219E 655A>G LIHC-US 12 41957413 41957413 single base substitution A G missense_variant K477E 1429A>G LIHC-US 12 41966302 41966302 single base substitution C A exon_variant LIHC-US 12 41966302 41966302 single base substitution C A missense_variant A314D 941C>A LIHC-US 12 41966302 41966302 single base substitution C A missense_variant A316D 947C>A LIHC-US 12 41966302 41966302 single base substitution C A missense_variant A574D 1721C>A LIHC-US 12 41966919 41966919 single base substitution C G exon_variant LIHC-US 12 41966919 41966919 single base substitution C G missense_variant Q520E 1558C>G LIHC-US 12 41966919 41966919 single base substitution C G missense_variant Q522E 1564C>G LIHC-US 12 41966919 41966919 single base substitution C G missense_variant Q780E 2338C>G LIHC-US 12 41967431 41967431 single base substitution G T exon_variant LIHC-US 12 41967431 41967431 single base substitution G T synonymous_variant L690L 2070G>T LIHC-US 12 41967431 41967431 single base substitution G T synonymous_variant L692L 2076G>T LIHC-US 12 41967431 41967431 single base substitution G T synonymous_variant L950L 2850G>T LINC-JP 12 41579818 41579818 single base substitution C T upstream_gene_variant LINC-JP 12 41581904 41581904 single base substitution C T upstream_gene_variant LINC-JP 12 41584487 41584487 single base substitution T C intron_variant LINC-JP 12 41597494 41597494 single base substitution A T intron_variant LINC-JP 12 41599788 41599788 single base substitution T C intron_variant LINC-JP 12 41600658 41600658 single base substitution C T intron_variant LINC-JP 12 41604930 41604930 single base substitution A G intron_variant LINC-JP 12 41607819 41607819 single base substitution A T intron_variant LINC-JP 12 41610386 41610386 single base substitution A G intron_variant LINC-JP 12 41616200 41616200 single base substitution A C intron_variant LINC-JP 12 41621910 41621910 single base substitution G T intron_variant LINC-JP 12 41630294 41630294 single base substitution T C intron_variant LINC-JP 12 41635524 41635524 single base substitution G A intron_variant LINC-JP 12 41636052 41636052 single base substitution G T intron_variant LINC-JP 12 41636665 41636665 single base substitution C A intron_variant LINC-JP 12 41640141 41640141 single base substitution G T intron_variant LINC-JP 12 41640218 41640218 single base substitution G T intron_variant LINC-JP 12 41648258 41648258 single base substitution A G intron_variant LINC-JP 12 41652347 41652347 single base substitution A C intron_variant LINC-JP 12 41660557 41660557 insertion of <=200bp - A intron_variant LINC-JP 12 41673034 41673034 single base substitution G T intron_variant LINC-JP 12 41675845 41675845 single base substitution G A intron_variant LINC-JP 12 41676676 41676676 single base substitution G T intron_variant LINC-JP 12 41677770 41677770 single base substitution C T intron_variant LINC-JP 12 41686652 41686652 single base substitution A G intron_variant LINC-JP 12 41687663 41687663 single base substitution A G intron_variant LINC-JP 12 41692312 41692312 single base substitution T A intron_variant LINC-JP 12 41693319 41693319 single base substitution C T intron_variant LINC-JP 12 41697072 41697072 single base substitution G T intron_variant LINC-JP 12 41706652 41706652 single base substitution T C intron_variant LINC-JP 12 41707920 41707920 single base substitution G T intron_variant LINC-JP 12 41710844 41710844 single base substitution C T intron_variant LINC-JP 12 41716495 41716495 single base substitution T A intron_variant LINC-JP 12 41721116 41721116 single base substitution A G intron_variant LINC-JP 12 41722855 41722855 single base substitution G T intron_variant LINC-JP 12 41723472 41723472 single base substitution A G intron_variant LINC-JP 12 41729669 41729669 single base substitution C A intron_variant LINC-JP 12 41732211 41732211 single base substitution G T intron_variant LINC-JP 12 41734148 41734148 single base substitution G A intron_variant LINC-JP 12 41754701 41754701 single base substitution T A intron_variant LINC-JP 12 41756305 41756305 single base substitution A G intron_variant LINC-JP 12 41760514 41760514 single base substitution C T intron_variant LINC-JP 12 41771733 41771733 single base substitution G T intron_variant LINC-JP 12 41775996 41775996 single base substitution G T intron_variant LINC-JP 12 41780689 41780689 single base substitution T G intron_variant LINC-JP 12 41781767 41781767 single base substitution A T intron_variant LINC-JP 12 41802274 41802274 single base substitution C T intron_variant LINC-JP 12 41802864 41802864 single base substitution A G intron_variant LINC-JP 12 41803865 41803865 single base substitution C A intron_variant LINC-JP 12 41803916 41803916 single base substitution C A intron_variant LINC-JP 12 41805315 41805315 single base substitution A T intron_variant LINC-JP 12 41807169 41807169 single base substitution A T intron_variant LINC-JP 12 41808492 41808492 single base substitution G A intron_variant LINC-JP 12 41809146 41809146 single base substitution A G intron_variant LINC-JP 12 41809756 41809756 single base substitution A T intron_variant LINC-JP 12 41809809 41809809 single base substitution T A intron_variant LINC-JP 12 41814258 41814258 single base substitution C A intron_variant LINC-JP 12 41817825 41817825 single base substitution A T intron_variant LINC-JP 12 41818460 41818460 single base substitution T A intron_variant LINC-JP 12 41823088 41823088 single base substitution T C intron_variant LINC-JP 12 41823364 41823364 single base substitution G T intron_variant LINC-JP 12 41826207 41826207 single base substitution G A intron_variant LINC-JP 12 41826379 41826379 single base substitution A T intron_variant LINC-JP 12 41833058 41833058 single base substitution T C intron_variant LINC-JP 12 41833261 41833261 single base substitution T C intron_variant LINC-JP 12 41835028 41835028 single base substitution T G intron_variant LINC-JP 12 41839625 41839625 single base substitution T A intron_variant LINC-JP 12 41850781 41850781 single base substitution G T intron_variant LINC-JP 12 41853994 41853994 single base substitution C A intron_variant LINC-JP 12 41854857 41854857 single base substitution T C intron_variant LINC-JP 12 41855460 41855460 single base substitution T C intron_variant LINC-JP 12 41858113 41858113 single base substitution A G intron_variant LINC-JP 12 41859687 41859687 single base substitution T C intron_variant LINC-JP 12 41861497 41861497 single base substitution C A intron_variant LINC-JP 12 41862787 41862787 single base substitution G A intron_variant LINC-JP 12 41871542 41871542 single base substitution A T intron_variant LINC-JP 12 41881099 41881099 single base substitution G A intron_variant LINC-JP 12 41884782 41884782 single base substitution T C intron_variant LINC-JP 12 41900008 41900008 single base substitution T C intron_variant LINC-JP 12 41900008 41900008 single base substitution T C upstream_gene_variant LINC-JP 12 41900249 41900249 single base substitution T A intron_variant LINC-JP 12 41900249 41900249 single base substitution T A upstream_gene_variant LINC-JP 12 41902868 41902868 single base substitution A G intron_variant LINC-JP 12 41902868 41902868 single base substitution A G upstream_gene_variant LINC-JP 12 41903460 41903460 single base substitution A G exon_variant LINC-JP 12 41903460 41903460 single base substitution A G intron_variant LINC-JP 12 41908927 41908927 single base substitution G C intron_variant LINC-JP 12 41914572 41914572 single base substitution A T intron_variant LINC-JP 12 41932011 41932011 single base substitution G T intron_variant LINC-JP 12 41935796 41935796 single base substitution T A intron_variant LINC-JP 12 41936806 41936806 single base substitution C T intron_variant LINC-JP 12 41940280 41940280 single base substitution C A intron_variant LINC-JP 12 41940286 41940286 single base substitution C A intron_variant LINC-JP 12 41944465 41944465 single base substitution T C intron_variant LINC-JP 12 41949489 41949489 single base substitution C T intron_variant LINC-JP 12 41951150 41951150 single base substitution T C intron_variant LINC-JP 12 41951744 41951744 single base substitution G C intron_variant LINC-JP 12 41954607 41954607 single base substitution A G intron_variant LINC-JP 12 41958724 41958724 single base substitution A C intron_variant LINC-JP 12 41960351 41960351 single base substitution T C intron_variant LINC-JP 12 41964983 41964983 single base substitution G A intron_variant LINC-JP 12 41966399 41966399 single base substitution C A exon_variant LINC-JP 12 41966399 41966399 single base substitution C A synonymous_variant L346L 1038C>A LINC-JP 12 41966399 41966399 single base substitution C A synonymous_variant L348L 1044C>A LINC-JP 12 41966399 41966399 single base substitution C A synonymous_variant L606L 1818C>A LINC-JP 12 41966736 41966736 single base substitution G T exon_variant LINC-JP 12 41966736 41966736 single base substitution G T stop_gained G459* 1375G>T LINC-JP 12 41966736 41966736 single base substitution G T stop_gained G461* 1381G>T LINC-JP 12 41966736 41966736 single base substitution G T stop_gained G719* 2155G>T LINC-JP 12 41966978 41966978 single base substitution G A exon_variant LINC-JP 12 41966978 41966978 single base substitution G A synonymous_variant E539E 1617G>A LINC-JP 12 41966978 41966978 single base substitution G A synonymous_variant E541E 1623G>A LINC-JP 12 41966978 41966978 single base substitution G A synonymous_variant E799E 2397G>A LINC-JP 12 41967103 41967103 single base substitution C T exon_variant LINC-JP 12 41967103 41967103 single base substitution C T missense_variant A581V 1742C>T LINC-JP 12 41967103 41967103 single base substitution C T missense_variant A583V 1748C>T LINC-JP 12 41967103 41967103 single base substitution C T missense_variant A841V 2522C>T LINC-JP 12 41967296 41967296 single base substitution C A exon_variant LINC-JP 12 41967296 41967296 single base substitution C A synonymous_variant P645P 1935C>A LINC-JP 12 41967296 41967296 single base substitution C A synonymous_variant P647P 1941C>A LINC-JP 12 41967296 41967296 single base substitution C A synonymous_variant P905P 2715C>A LINC-JP 12 41967350 41967350 single base substitution T C exon_variant LINC-JP 12 41967350 41967350 single base substitution T C synonymous_variant S663S 1989T>C LINC-JP 12 41967350 41967350 single base substitution T C synonymous_variant S665S 1995T>C LINC-JP 12 41967350 41967350 single base substitution T C synonymous_variant S923S 2769T>C LINC-JP 12 41967428 41967428 single base substitution C A exon_variant LINC-JP 12 41967428 41967428 single base substitution C A missense_variant H689Q 2067C>A LINC-JP 12 41967428 41967428 single base substitution C A missense_variant H691Q 2073C>A LINC-JP 12 41967428 41967428 single base substitution C A missense_variant H949Q 2847C>A LINC-JP 12 41967459 41967459 single base substitution C T exon_variant LINC-JP 12 41967459 41967459 single base substitution C T missense_variant R700C 2098C>T LINC-JP 12 41967459 41967459 single base substitution C T missense_variant R702C 2104C>T LINC-JP 12 41967459 41967459 single base substitution C T missense_variant R960C 2878C>T LINC-JP 12 41967491 41967491 single base substitution T C exon_variant LINC-JP 12 41967491 41967491 single base substitution T C synonymous_variant C710C 2130T>C LINC-JP 12 41967491 41967491 single base substitution T C synonymous_variant C712C 2136T>C LINC-JP 12 41967491 41967491 single base substitution T C synonymous_variant C970C 2910T>C LINC-JP 12 41967575 41967575 single base substitution G A exon_variant LINC-JP 12 41967575 41967575 single base substitution G A synonymous_variant K738K 2214G>A LINC-JP 12 41967575 41967575 single base substitution G A synonymous_variant K740K 2220G>A LINC-JP 12 41967575 41967575 single base substitution G A synonymous_variant K998K 2994G>A LINC-JP 12 41970516 41970516 single base substitution C T downstream_gene_variant LIRI-JP 12 41577667 41577667 single base substitution T C upstream_gene_variant LIRI-JP 12 41578066 41578066 single base substitution G T upstream_gene_variant LIRI-JP 12 41578297 41578297 single base substitution T C upstream_gene_variant LIRI-JP 12 41579113 41579113 single base substitution G A upstream_gene_variant LIRI-JP 12 41579118 41579118 single base substitution G T upstream_gene_variant LIRI-JP 12 41579183 41579183 single base substitution C A upstream_gene_variant LIRI-JP 12 41579718 41579718 single base substitution G T upstream_gene_variant LIRI-JP 12 41580723 41580723 single base substitution A G upstream_gene_variant LIRI-JP 12 41580905 41580905 single base substitution C T upstream_gene_variant LIRI-JP 12 41581358 41581358 single base substitution A G upstream_gene_variant LIRI-JP 12 41582176 41582176 single base substitution C T upstream_gene_variant LIRI-JP 12 41583470 41583470 single base substitution G A intron_variant LIRI-JP 12 41584933 41584933 deletion of <=200bp C - intron_variant LIRI-JP 12 41585532 41585532 single base substitution A C intron_variant LIRI-JP 12 41585720 41585720 single base substitution G T intron_variant LIRI-JP 12 41588047 41588047 single base substitution A G intron_variant LIRI-JP 12 41588059 41588059 single base substitution T G intron_variant LIRI-JP 12 41588488 41588488 single base substitution G T intron_variant LIRI-JP 12 41588786 41588786 single base substitution A G intron_variant LIRI-JP 12 41588863 41588863 single base substitution T C intron_variant LIRI-JP 12 41588922 41588922 deletion of <=200bp G - intron_variant LIRI-JP 12 41589873 41589873 single base substitution T C intron_variant LIRI-JP 12 41590017 41590017 single base substitution A T intron_variant LIRI-JP 12 41590507 41590507 single base substitution T G intron_variant LIRI-JP 12 41590803 41590803 single base substitution T C intron_variant LIRI-JP 12 41591484 41591484 single base substitution A G intron_variant LIRI-JP 12 41591549 41591549 single base substitution G T intron_variant LIRI-JP 12 41591622 41591622 single base substitution T C intron_variant LIRI-JP 12 41592132 41592132 single base substitution C A intron_variant LIRI-JP 12 41592428 41592428 single base substitution G A intron_variant LIRI-JP 12 41593726 41593726 single base substitution T C intron_variant LIRI-JP 12 41595126 41595126 single base substitution T A intron_variant LIRI-JP 12 41595127 41595127 single base substitution C A intron_variant LIRI-JP 12 41595493 41595493 single base substitution A G intron_variant LIRI-JP 12 41596047 41596047 single base substitution C G intron_variant LIRI-JP 12 41596556 41596556 single base substitution A G intron_variant LIRI-JP 12 41596649 41596649 single base substitution G C intron_variant LIRI-JP 12 41597167 41597167 single base substitution A T intron_variant LIRI-JP 12 41597674 41597674 single base substitution G A intron_variant LIRI-JP 12 41598080 41598080 single base substitution G T intron_variant LIRI-JP 12 41598256 41598256 single base substitution C A intron_variant LIRI-JP 12 41598613 41598613 single base substitution T C intron_variant LIRI-JP 12 41599350 41599350 single base substitution G A intron_variant LIRI-JP 12 41600943 41600943 single base substitution T G intron_variant LIRI-JP 12 41600949 41600949 single base substitution T G intron_variant LIRI-JP 12 41600979 41600979 single base substitution C G intron_variant LIRI-JP 12 41601749 41601749 single base substitution A G intron_variant LIRI-JP 12 41602193 41602193 single base substitution A G intron_variant LIRI-JP 12 41602560 41602560 single base substitution C T intron_variant LIRI-JP 12 41602661 41602661 single base substitution T A intron_variant LIRI-JP 12 41604162 41604162 single base substitution C A intron_variant LIRI-JP 12 41604720 41604720 single base substitution A T intron_variant LIRI-JP 12 41605765 41605765 single base substitution A G intron_variant LIRI-JP 12 41606257 41606257 single base substitution T C intron_variant LIRI-JP 12 41606446 41606446 single base substitution G T intron_variant LIRI-JP 12 41606542 41606542 single base substitution A G intron_variant LIRI-JP 12 41607549 41607549 single base substitution A G intron_variant LIRI-JP 12 41607948 41607948 single base substitution T C intron_variant LIRI-JP 12 41607964 41607964 single base substitution T A intron_variant LIRI-JP 12 41607967 41607967 single base substitution T C intron_variant LIRI-JP 12 41608976 41608976 single base substitution G T intron_variant LIRI-JP 12 41609010 41609010 single base substitution T A intron_variant LIRI-JP 12 41609438 41609438 single base substitution A G intron_variant LIRI-JP 12 41610312 41610312 single base substitution T G intron_variant LIRI-JP 12 41610350 41610350 single base substitution T C intron_variant LIRI-JP 12 41610987 41610987 single base substitution G T intron_variant LIRI-JP 12 41611248 41611248 single base substitution G C intron_variant LIRI-JP 12 41613148 41613148 deletion of <=200bp G - intron_variant LIRI-JP 12 41614083 41614083 single base substitution C G intron_variant LIRI-JP 12 41614730 41614730 single base substitution C T intron_variant LIRI-JP 12 41615231 41615231 single base substitution A G intron_variant LIRI-JP 12 41615604 41615604 single base substitution A T intron_variant LIRI-JP 12 41616362 41616362 single base substitution C A intron_variant LIRI-JP 12 41616543 41616543 single base substitution T A intron_variant LIRI-JP 12 41617433 41617433 single base substitution G T intron_variant LIRI-JP 12 41617767 41617767 single base substitution G T intron_variant LIRI-JP 12 41618145 41618145 single base substitution G A intron_variant LIRI-JP 12 41618408 41618408 single base substitution A G intron_variant LIRI-JP 12 41618517 41618517 single base substitution C A intron_variant LIRI-JP 12 41619289 41619290 deletion of <=200bp AT - intron_variant LIRI-JP 12 41619526 41619526 single base substitution A T intron_variant LIRI-JP 12 41619567 41619567 single base substitution T C intron_variant LIRI-JP 12 41619722 41619722 single base substitution C A intron_variant LIRI-JP 12 41621010 41621010 single base substitution T G intron_variant LIRI-JP 12 41621093 41621093 single base substitution G T intron_variant LIRI-JP 12 41621122 41621122 single base substitution A G intron_variant LIRI-JP 12 41621319 41621319 single base substitution T C intron_variant LIRI-JP 12 41622135 41622135 single base substitution A C intron_variant LIRI-JP 12 41622139 41622139 single base substitution T C intron_variant LIRI-JP 12 41622579 41622579 single base substitution A G intron_variant LIRI-JP 12 41623001 41623001 single base substitution G T intron_variant LIRI-JP 12 41624223 41624223 single base substitution C T intron_variant LIRI-JP 12 41624348 41624348 single base substitution A G intron_variant LIRI-JP 12 41624397 41624397 single base substitution G A intron_variant LIRI-JP 12 41624445 41624445 single base substitution C A intron_variant LIRI-JP 12 41625168 41625168 single base substitution T C intron_variant LIRI-JP 12 41625930 41625930 single base substitution T C intron_variant LIRI-JP 12 41626052 41626052 single base substitution C T intron_variant LIRI-JP 12 41626403 41626403 single base substitution A G intron_variant LIRI-JP 12 41627356 41627356 single base substitution A G intron_variant LIRI-JP 12 41627423 41627423 single base substitution A G intron_variant LIRI-JP 12 41627528 41627528 single base substitution G T intron_variant LIRI-JP 12 41627529 41627529 single base substitution G T intron_variant LIRI-JP 12 41627942 41627942 single base substitution T G intron_variant LIRI-JP 12 41630383 41630383 single base substitution G T intron_variant LIRI-JP 12 41630384 41630384 single base substitution G T intron_variant LIRI-JP 12 41630674 41630674 single base substitution A G intron_variant LIRI-JP 12 41631510 41631510 single base substitution C A intron_variant LIRI-JP 12 41632786 41632786 single base substitution G A intron_variant LIRI-JP 12 41632962 41632962 single base substitution G A intron_variant LIRI-JP 12 41633991 41633992 deletion of <=200bp TT - intron_variant LIRI-JP 12 41634183 41634183 single base substitution T A intron_variant LIRI-JP 12 41634406 41634406 single base substitution A G intron_variant LIRI-JP 12 41634410 41634410 single base substitution G T intron_variant LIRI-JP 12 41635063 41635063 single base substitution T C intron_variant LIRI-JP 12 41635899 41635899 single base substitution C G intron_variant LIRI-JP 12 41636037 41636037 single base substitution A G intron_variant LIRI-JP 12 41636185 41636185 single base substitution C T intron_variant LIRI-JP 12 41636619 41636619 single base substitution G A intron_variant LIRI-JP 12 41636696 41636696 single base substitution T C intron_variant LIRI-JP 12 41636754 41636754 single base substitution T A intron_variant LIRI-JP 12 41637432 41637432 single base substitution A G intron_variant LIRI-JP 12 41638382 41638382 single base substitution C T intron_variant LIRI-JP 12 41638786 41638786 single base substitution C A intron_variant LIRI-JP 12 41639593 41639593 single base substitution T C intron_variant LIRI-JP 12 41639876 41639876 single base substitution C A intron_variant LIRI-JP 12 41640104 41640104 single base substitution A T intron_variant LIRI-JP 12 41640495 41640495 single base substitution T C intron_variant LIRI-JP 12 41642666 41642666 single base substitution C A intron_variant LIRI-JP 12 41643001 41643001 single base substitution A G intron_variant LIRI-JP 12 41643039 41643039 single base substitution T C intron_variant LIRI-JP 12 41644041 41644041 single base substitution T C intron_variant LIRI-JP 12 41644161 41644161 single base substitution G T intron_variant LIRI-JP 12 41644187 41644187 single base substitution T C intron_variant LIRI-JP 12 41644574 41644574 single base substitution T C intron_variant LIRI-JP 12 41646601 41646601 single base substitution G A intron_variant LIRI-JP 12 41646956 41646956 single base substitution C T intron_variant LIRI-JP 12 41648484 41648484 single base substitution A T intron_variant LIRI-JP 12 41648556 41648556 single base substitution C A intron_variant LIRI-JP 12 41648557 41648557 single base substitution C A intron_variant LIRI-JP 12 41648672 41648672 single base substitution A T intron_variant LIRI-JP 12 41648755 41648755 single base substitution G T intron_variant LIRI-JP 12 41649419 41649419 single base substitution A G intron_variant LIRI-JP 12 41650353 41650353 single base substitution G A intron_variant LIRI-JP 12 41650492 41650492 single base substitution G C intron_variant LIRI-JP 12 41650529 41650529 single base substitution G A intron_variant LIRI-JP 12 41650558 41650558 single base substitution C T intron_variant LIRI-JP 12 41652974 41652974 single base substitution C T intron_variant LIRI-JP 12 41653751 41653751 single base substitution G C intron_variant LIRI-JP 12 41653991 41653991 single base substitution A G intron_variant LIRI-JP 12 41654295 41654295 single base substitution C A intron_variant LIRI-JP 12 41654595 41654595 single base substitution C G intron_variant LIRI-JP 12 41655157 41655157 single base substitution T C intron_variant LIRI-JP 12 41655170 41655170 single base substitution T C intron_variant LIRI-JP 12 41655697 41655697 single base substitution G T intron_variant LIRI-JP 12 41656016 41656016 single base substitution T C intron_variant LIRI-JP 12 41656334 41656334 single base substitution A T intron_variant LIRI-JP 12 41657384 41657384 single base substitution G T intron_variant LIRI-JP 12 41657642 41657642 single base substitution C A intron_variant LIRI-JP 12 41658264 41658264 single base substitution A T intron_variant LIRI-JP 12 41660803 41660803 single base substitution C A intron_variant LIRI-JP 12 41661087 41661087 single base substitution C T intron_variant LIRI-JP 12 41661619 41661619 single base substitution G T intron_variant LIRI-JP 12 41661624 41661624 single base substitution C A intron_variant LIRI-JP 12 41661736 41661736 single base substitution C A intron_variant LIRI-JP 12 41661882 41661882 single base substitution T A intron_variant LIRI-JP 12 41663035 41663035 single base substitution G T intron_variant LIRI-JP 12 41663127 41663127 single base substitution G T intron_variant LIRI-JP 12 41663995 41663995 single base substitution A G intron_variant LIRI-JP 12 41664374 41664374 single base substitution G A intron_variant LIRI-JP 12 41665616 41665616 single base substitution A G intron_variant LIRI-JP 12 41665789 41665789 single base substitution T C intron_variant LIRI-JP 12 41666922 41666922 single base substitution G T intron_variant LIRI-JP 12 41667702 41667702 single base substitution T C intron_variant LIRI-JP 12 41668747 41668747 single base substitution G A intron_variant LIRI-JP 12 41668890 41668890 single base substitution A G intron_variant LIRI-JP 12 41669970 41669970 single base substitution T C intron_variant LIRI-JP 12 41670894 41670894 single base substitution A C intron_variant LIRI-JP 12 41671751 41671751 single base substitution A T intron_variant LIRI-JP 12 41672021 41672021 single base substitution A G intron_variant LIRI-JP 12 41673168 41673168 single base substitution A G intron_variant LIRI-JP 12 41673303 41673303 single base substitution A T intron_variant LIRI-JP 12 41673380 41673380 single base substitution C T intron_variant LIRI-JP 12 41674513 41674513 single base substitution A T intron_variant LIRI-JP 12 41675204 41675204 single base substitution G A intron_variant LIRI-JP 12 41675212 41675212 single base substitution A G intron_variant LIRI-JP 12 41675688 41675688 single base substitution A T intron_variant LIRI-JP 12 41675747 41675747 single base substitution T C intron_variant LIRI-JP 12 41675839 41675839 single base substitution G T intron_variant LIRI-JP 12 41675893 41675893 single base substitution A G intron_variant LIRI-JP 12 41676767 41676767 single base substitution T C intron_variant LIRI-JP 12 41677574 41677574 single base substitution C A intron_variant LIRI-JP 12 41677770 41677770 single base substitution C T intron_variant LIRI-JP 12 41678100 41678100 single base substitution T A intron_variant LIRI-JP 12 41679401 41679401 single base substitution C A intron_variant LIRI-JP 12 41679402 41679402 single base substitution C A intron_variant LIRI-JP 12 41680091 41680091 single base substitution C G intron_variant LIRI-JP 12 41681735 41681735 single base substitution T G intron_variant LIRI-JP 12 41681990 41681990 single base substitution G T intron_variant LIRI-JP 12 41682834 41682834 deletion of <=200bp A - intron_variant LIRI-JP 12 41684071 41684071 single base substitution T C intron_variant LIRI-JP 12 41684766 41684766 single base substitution A G intron_variant LIRI-JP 12 41684997 41684997 single base substitution C T intron_variant LIRI-JP 12 41685256 41685256 single base substitution A G intron_variant LIRI-JP 12 41685431 41685431 single base substitution G A intron_variant LIRI-JP 12 41687346 41687346 single base substitution T C intron_variant LIRI-JP 12 41687554 41687554 single base substitution G A intron_variant LIRI-JP 12 41687858 41687858 single base substitution G T intron_variant LIRI-JP 12 41687935 41687935 single base substitution A T intron_variant LIRI-JP 12 41688251 41688251 single base substitution A T intron_variant LIRI-JP 12 41688900 41688900 single base substitution T C intron_variant LIRI-JP 12 41689217 41689217 single base substitution A G intron_variant LIRI-JP 12 41689311 41689311 single base substitution A G intron_variant LIRI-JP 12 41689991 41689991 single base substitution A T intron_variant LIRI-JP 12 41690201 41690201 single base substitution G A intron_variant LIRI-JP 12 41690576 41690576 single base substitution A G intron_variant LIRI-JP 12 41690647 41690647 single base substitution G A intron_variant LIRI-JP 12 41690968 41690968 single base substitution C A intron_variant LIRI-JP 12 41691125 41691125 single base substitution G A intron_variant LIRI-JP 12 41693485 41693485 single base substitution G T intron_variant LIRI-JP 12 41693507 41693507 single base substitution T C intron_variant LIRI-JP 12 41694229 41694229 insertion of <=200bp - A intron_variant LIRI-JP 12 41694561 41694561 single base substitution G T intron_variant LIRI-JP 12 41694842 41694842 single base substitution T A intron_variant LIRI-JP 12 41695106 41695106 single base substitution A G intron_variant LIRI-JP 12 41695406 41695406 single base substitution T C intron_variant LIRI-JP 12 41696354 41696354 single base substitution C T intron_variant LIRI-JP 12 41696558 41696558 single base substitution A C intron_variant LIRI-JP 12 41697094 41697094 single base substitution T C intron_variant LIRI-JP 12 41697460 41697460 single base substitution T A intron_variant LIRI-JP 12 41698293 41698293 single base substitution C A intron_variant LIRI-JP 12 41698368 41698368 single base substitution G T intron_variant LIRI-JP 12 41699835 41699835 single base substitution C T intron_variant LIRI-JP 12 41699977 41699977 single base substitution C T intron_variant LIRI-JP 12 41700374 41700374 single base substitution C A intron_variant LIRI-JP 12 41700410 41700410 single base substitution T C intron_variant LIRI-JP 12 41700776 41700776 single base substitution T C intron_variant LIRI-JP 12 41701971 41701971 single base substitution C T intron_variant LIRI-JP 12 41701974 41701974 single base substitution T A intron_variant LIRI-JP 12 41702000 41702000 insertion of <=200bp - AAATACT intron_variant LIRI-JP 12 41702806 41702806 single base substitution A G intron_variant LIRI-JP 12 41702890 41702890 single base substitution A G intron_variant LIRI-JP 12 41703663 41703663 single base substitution C A intron_variant LIRI-JP 12 41703852 41703852 single base substitution A C intron_variant LIRI-JP 12 41706091 41706091 single base substitution A G intron_variant LIRI-JP 12 41706836 41706836 single base substitution C T intron_variant LIRI-JP 12 41706866 41706866 single base substitution C T intron_variant LIRI-JP 12 41708697 41708697 single base substitution G A intron_variant LIRI-JP 12 41709275 41709275 single base substitution T C intron_variant LIRI-JP 12 41709456 41709456 single base substitution C A intron_variant LIRI-JP 12 41711462 41711462 single base substitution A G intron_variant LIRI-JP 12 41711532 41711532 single base substitution A C intron_variant LIRI-JP 12 41711687 41711687 single base substitution G A intron_variant LIRI-JP 12 41712329 41712329 single base substitution A T intron_variant LIRI-JP 12 41712675 41712675 single base substitution C A intron_variant LIRI-JP 12 41713307 41713307 single base substitution C T intron_variant LIRI-JP 12 41713628 41713628 single base substitution G C intron_variant LIRI-JP 12 41714972 41714972 single base substitution T A intron_variant LIRI-JP 12 41714972 41714972 single base substitution T C intron_variant LIRI-JP 12 41715202 41715202 single base substitution A G intron_variant LIRI-JP 12 41715770 41715770 single base substitution T A intron_variant LIRI-JP 12 41716072 41716072 single base substitution G A intron_variant LIRI-JP 12 41717208 41717208 single base substitution T C intron_variant LIRI-JP 12 41717350 41717350 single base substitution C G intron_variant LIRI-JP 12 41717438 41717438 deletion of <=200bp A - intron_variant LIRI-JP 12 41717458 41717458 single base substitution T A intron_variant LIRI-JP 12 41717464 41717464 single base substitution A G intron_variant LIRI-JP 12 41717799 41717799 deletion of <=200bp T - intron_variant LIRI-JP 12 41717921 41717921 single base substitution A G intron_variant LIRI-JP 12 41718544 41718544 single base substitution A T intron_variant LIRI-JP 12 41718760 41718760 single base substitution G A intron_variant LIRI-JP 12 41718831 41718831 single base substitution A G intron_variant LIRI-JP 12 41718886 41718886 single base substitution A G intron_variant LIRI-JP 12 41719871 41719871 single base substitution A C intron_variant LIRI-JP 12 41720409 41720409 single base substitution C A intron_variant LIRI-JP 12 41720644 41720644 single base substitution A G intron_variant LIRI-JP 12 41720668 41720668 single base substitution T C intron_variant LIRI-JP 12 41720693 41720693 single base substitution A C intron_variant LIRI-JP 12 41721212 41721212 single base substitution C A intron_variant LIRI-JP 12 41721944 41721944 single base substitution A G intron_variant LIRI-JP 12 41722169 41722169 single base substitution A T intron_variant LIRI-JP 12 41722472 41722472 single base substitution C T intron_variant LIRI-JP 12 41722684 41722684 single base substitution T C intron_variant LIRI-JP 12 41722785 41722785 single base substitution G T intron_variant LIRI-JP 12 41722818 41722818 single base substitution G T intron_variant LIRI-JP 12 41724132 41724132 single base substitution G T intron_variant LIRI-JP 12 41724643 41724643 single base substitution T C intron_variant LIRI-JP 12 41725937 41725937 single base substitution T C intron_variant LIRI-JP 12 41727160 41727160 single base substitution C G intron_variant LIRI-JP 12 41727186 41727186 single base substitution A G intron_variant LIRI-JP 12 41728017 41728017 single base substitution G C intron_variant LIRI-JP 12 41729056 41729063 deletion of <=200bp TTTATTTA - intron_variant LIRI-JP 12 41730020 41730020 single base substitution T C intron_variant LIRI-JP 12 41730131 41730131 single base substitution C T intron_variant LIRI-JP 12 41731025 41731025 single base substitution C A intron_variant LIRI-JP 12 41731287 41731287 single base substitution A G intron_variant LIRI-JP 12 41732055 41732055 single base substitution C T intron_variant LIRI-JP 12 41732104 41732104 single base substitution G A intron_variant LIRI-JP 12 41732581 41732581 single base substitution C T intron_variant LIRI-JP 12 41733114 41733114 single base substitution A G intron_variant LIRI-JP 12 41733961 41733961 single base substitution A G intron_variant LIRI-JP 12 41734858 41734858 single base substitution C T intron_variant LIRI-JP 12 41736644 41736644 single base substitution C G intron_variant LIRI-JP 12 41737596 41737596 single base substitution C A intron_variant LIRI-JP 12 41737738 41737738 single base substitution C T intron_variant LIRI-JP 12 41739135 41739135 single base substitution C T intron_variant LIRI-JP 12 41739515 41739515 single base substitution G T intron_variant LIRI-JP 12 41739678 41739678 single base substitution G T intron_variant LIRI-JP 12 41739709 41739709 single base substitution T A intron_variant LIRI-JP 12 41739918 41739918 single base substitution A G intron_variant LIRI-JP 12 41739931 41739931 single base substitution G C intron_variant LIRI-JP 12 41740117 41740117 single base substitution A T intron_variant LIRI-JP 12 41740630 41740630 single base substitution C A intron_variant LIRI-JP 12 41741039 41741039 single base substitution A T intron_variant LIRI-JP 12 41741404 41741404 single base substitution T C intron_variant LIRI-JP 12 41742476 41742476 single base substitution T C intron_variant LIRI-JP 12 41743410 41743410 single base substitution G T intron_variant LIRI-JP 12 41743840 41743840 single base substitution G T intron_variant LIRI-JP 12 41743907 41743907 single base substitution C A intron_variant LIRI-JP 12 41743967 41743967 single base substitution G C intron_variant LIRI-JP 12 41744303 41744303 single base substitution A G intron_variant LIRI-JP 12 41744517 41744517 single base substitution C A intron_variant LIRI-JP 12 41744871 41744871 single base substitution T A intron_variant LIRI-JP 12 41745155 41745155 single base substitution G A intron_variant LIRI-JP 12 41745421 41745421 single base substitution C A intron_variant LIRI-JP 12 41745740 41745740 single base substitution A C intron_variant LIRI-JP 12 41746086 41746086 single base substitution T C intron_variant LIRI-JP 12 41746541 41746541 single base substitution A T intron_variant LIRI-JP 12 41746787 41746787 single base substitution A T intron_variant LIRI-JP 12 41746902 41746902 single base substitution C G intron_variant LIRI-JP 12 41747235 41747235 single base substitution C T intron_variant LIRI-JP 12 41747566 41747566 single base substitution A T intron_variant LIRI-JP 12 41748703 41748703 single base substitution A G intron_variant LIRI-JP 12 41748712 41748712 single base substitution C A intron_variant LIRI-JP 12 41748852 41748852 single base substitution G T intron_variant LIRI-JP 12 41749106 41749106 single base substitution C A intron_variant LIRI-JP 12 41749293 41749293 insertion of <=200bp - A intron_variant LIRI-JP 12 41749391 41749391 single base substitution G T intron_variant LIRI-JP 12 41750374 41750374 single base substitution A G intron_variant LIRI-JP 12 41750867 41750867 single base substitution A G intron_variant LIRI-JP 12 41751090 41751090 single base substitution A T intron_variant LIRI-JP 12 41751107 41751107 single base substitution A T intron_variant LIRI-JP 12 41751374 41751374 single base substitution A G intron_variant LIRI-JP 12 41751391 41751391 single base substitution T C intron_variant LIRI-JP 12 41751744 41751744 single base substitution C G intron_variant LIRI-JP 12 41752776 41752776 single base substitution A G intron_variant LIRI-JP 12 41752788 41752788 single base substitution T C intron_variant LIRI-JP 12 41753135 41753135 single base substitution T C intron_variant LIRI-JP 12 41753325 41753325 single base substitution A T intron_variant LIRI-JP 12 41753954 41753954 single base substitution C G intron_variant LIRI-JP 12 41755485 41755485 single base substitution T C intron_variant LIRI-JP 12 41755814 41755814 single base substitution G A intron_variant LIRI-JP 12 41755961 41755961 single base substitution T C intron_variant LIRI-JP 12 41755969 41755969 single base substitution A G intron_variant LIRI-JP 12 41756404 41756404 single base substitution A T intron_variant LIRI-JP 12 41757803 41757803 deletion of <=200bp A - intron_variant LIRI-JP 12 41757868 41757868 single base substitution A G intron_variant LIRI-JP 12 41758049 41758049 single base substitution C A intron_variant LIRI-JP 12 41758147 41758147 single base substitution T A intron_variant LIRI-JP 12 41758507 41758507 single base substitution G A intron_variant LIRI-JP 12 41759149 41759149 single base substitution G T intron_variant LIRI-JP 12 41759344 41759344 single base substitution G A intron_variant LIRI-JP 12 41759509 41759509 single base substitution C T intron_variant LIRI-JP 12 41760975 41760975 single base substitution C T intron_variant LIRI-JP 12 41761077 41761077 single base substitution C A intron_variant LIRI-JP 12 41761407 41761407 single base substitution C A intron_variant LIRI-JP 12 41762421 41762421 single base substitution G A intron_variant LIRI-JP 12 41763564 41763564 single base substitution G T intron_variant LIRI-JP 12 41763846 41763846 single base substitution C A intron_variant LIRI-JP 12 41764665 41764665 single base substitution T C intron_variant LIRI-JP 12 41764763 41764763 single base substitution A G intron_variant LIRI-JP 12 41766336 41766336 single base substitution C A intron_variant LIRI-JP 12 41766619 41766619 single base substitution G T intron_variant LIRI-JP 12 41767343 41767343 single base substitution T C intron_variant LIRI-JP 12 41768564 41768564 single base substitution A G intron_variant LIRI-JP 12 41769231 41769231 single base substitution A G intron_variant LIRI-JP 12 41769798 41769798 single base substitution T C intron_variant LIRI-JP 12 41770004 41770004 single base substitution C A intron_variant LIRI-JP 12 41770455 41770455 single base substitution A G intron_variant LIRI-JP 12 41770657 41770657 single base substitution T C intron_variant LIRI-JP 12 41771238 41771238 single base substitution G C intron_variant LIRI-JP 12 41771239 41771239 single base substitution G T intron_variant LIRI-JP 12 41771516 41771516 single base substitution T A intron_variant LIRI-JP 12 41771516 41771516 single base substitution T C intron_variant LIRI-JP 12 41772514 41772514 single base substitution G T intron_variant LIRI-JP 12 41772515 41772515 single base substitution G T intron_variant LIRI-JP 12 41772932 41772932 single base substitution T A intron_variant LIRI-JP 12 41773763 41773763 single base substitution A G intron_variant LIRI-JP 12 41773769 41773769 single base substitution G T intron_variant LIRI-JP 12 41773882 41773882 single base substitution T C intron_variant LIRI-JP 12 41774447 41774447 single base substitution T G intron_variant LIRI-JP 12 41774975 41774975 single base substitution A T intron_variant LIRI-JP 12 41775109 41775109 single base substitution T C intron_variant LIRI-JP 12 41776691 41776691 single base substitution T C intron_variant LIRI-JP 12 41776833 41776833 single base substitution A T intron_variant LIRI-JP 12 41777116 41777116 single base substitution C T intron_variant LIRI-JP 12 41778282 41778282 single base substitution A G intron_variant LIRI-JP 12 41778412 41778412 single base substitution T C intron_variant LIRI-JP 12 41778459 41778459 single base substitution A T intron_variant LIRI-JP 12 41779584 41779584 single base substitution T C intron_variant LIRI-JP 12 41780059 41780059 single base substitution A G intron_variant LIRI-JP 12 41780106 41780106 single base substitution T C intron_variant LIRI-JP 12 41780139 41780139 single base substitution T C intron_variant LIRI-JP 12 41780378 41780378 single base substitution A G intron_variant LIRI-JP 12 41780755 41780755 single base substitution A G intron_variant LIRI-JP 12 41781632 41781632 single base substitution T A intron_variant LIRI-JP 12 41782079 41782079 single base substitution C T intron_variant LIRI-JP 12 41782718 41782718 single base substitution A T intron_variant LIRI-JP 12 41783495 41783495 single base substitution C T intron_variant LIRI-JP 12 41783920 41783920 single base substitution G A intron_variant LIRI-JP 12 41784332 41784332 single base substitution A G intron_variant LIRI-JP 12 41784572 41784572 deletion of <=200bp A - intron_variant LIRI-JP 12 41784709 41784709 single base substitution T C intron_variant LIRI-JP 12 41784835 41784835 single base substitution G A intron_variant LIRI-JP 12 41785065 41785065 single base substitution G T intron_variant LIRI-JP 12 41785202 41785202 single base substitution G A intron_variant LIRI-JP 12 41787392 41787392 single base substitution G T intron_variant LIRI-JP 12 41787471 41787471 single base substitution C T intron_variant LIRI-JP 12 41787613 41787613 single base substitution A G intron_variant LIRI-JP 12 41787626 41787626 single base substitution G A intron_variant LIRI-JP 12 41788050 41788050 single base substitution C A intron_variant LIRI-JP 12 41788248 41788248 single base substitution T A intron_variant LIRI-JP 12 41788754 41788754 single base substitution A T intron_variant LIRI-JP 12 41788920 41788920 single base substitution A G intron_variant LIRI-JP 12 41789176 41789176 single base substitution A C intron_variant LIRI-JP 12 41789456 41789456 single base substitution A G intron_variant LIRI-JP 12 41790161 41790161 single base substitution C A intron_variant LIRI-JP 12 41790162 41790162 single base substitution C A intron_variant LIRI-JP 12 41790494 41790494 single base substitution A G intron_variant LIRI-JP 12 41790629 41790629 single base substitution T C intron_variant LIRI-JP 12 41791973 41791973 single base substitution C A intron_variant LIRI-JP 12 41792150 41792150 single base substitution T G intron_variant LIRI-JP 12 41792387 41792387 single base substitution T C intron_variant LIRI-JP 12 41792495 41792495 single base substitution T G intron_variant LIRI-JP 12 41792740 41792740 insertion of <=200bp - T intron_variant LIRI-JP 12 41792946 41792946 single base substitution A G intron_variant LIRI-JP 12 41793521 41793521 single base substitution A G intron_variant LIRI-JP 12 41793639 41793639 single base substitution T C intron_variant LIRI-JP 12 41793773 41793773 single base substitution A C intron_variant LIRI-JP 12 41794310 41794310 single base substitution G A intron_variant LIRI-JP 12 41794650 41794650 single base substitution T A intron_variant LIRI-JP 12 41795564 41795564 single base substitution C A intron_variant LIRI-JP 12 41795565 41795565 single base substitution A C intron_variant LIRI-JP 12 41796569 41796569 single base substitution T C intron_variant LIRI-JP 12 41796607 41796607 single base substitution C A intron_variant LIRI-JP 12 41797151 41797151 single base substitution A G intron_variant LIRI-JP 12 41797403 41797403 single base substitution G T intron_variant LIRI-JP 12 41797404 41797404 single base substitution G T intron_variant LIRI-JP 12 41797856 41797856 single base substitution C A intron_variant LIRI-JP 12 41797857 41797857 single base substitution C G intron_variant LIRI-JP 12 41797867 41797867 single base substitution G C intron_variant LIRI-JP 12 41797926 41797926 single base substitution G A intron_variant LIRI-JP 12 41798443 41798443 single base substitution G A intron_variant LIRI-JP 12 41798500 41798500 single base substitution G A intron_variant LIRI-JP 12 41798878 41798878 single base substitution C A intron_variant LIRI-JP 12 41799126 41799126 single base substitution C G intron_variant LIRI-JP 12 41799754 41799754 single base substitution G T intron_variant LIRI-JP 12 41801116 41801116 single base substitution A G intron_variant LIRI-JP 12 41802470 41802470 single base substitution T C intron_variant LIRI-JP 12 41802525 41802525 single base substitution T A intron_variant LIRI-JP 12 41802901 41802901 single base substitution G A intron_variant LIRI-JP 12 41803118 41803118 single base substitution C T intron_variant LIRI-JP 12 41803266 41803266 single base substitution G T intron_variant LIRI-JP 12 41803560 41803560 single base substitution G A intron_variant LIRI-JP 12 41804993 41804993 single base substitution G A intron_variant LIRI-JP 12 41805387 41805387 single base substitution T A intron_variant LIRI-JP 12 41805804 41805804 single base substitution G T intron_variant LIRI-JP 12 41806840 41806840 single base substitution C T intron_variant LIRI-JP 12 41807531 41807531 single base substitution G A intron_variant LIRI-JP 12 41808882 41808882 single base substitution G A intron_variant LIRI-JP 12 41809320 41809320 single base substitution T C intron_variant LIRI-JP 12 41809397 41809397 deletion of <=200bp C - intron_variant LIRI-JP 12 41809445 41809445 single base substitution G A intron_variant LIRI-JP 12 41809509 41809509 single base substitution T C intron_variant LIRI-JP 12 41810033 41810033 single base substitution T C intron_variant LIRI-JP 12 41810140 41810140 single base substitution T A intron_variant LIRI-JP 12 41810321 41810321 single base substitution G A intron_variant LIRI-JP 12 41810709 41810709 single base substitution T C intron_variant LIRI-JP 12 41810918 41810918 single base substitution C T intron_variant LIRI-JP 12 41811194 41811194 single base substitution A T intron_variant LIRI-JP 12 41811354 41811354 single base substitution T C intron_variant LIRI-JP 12 41811415 41811415 single base substitution C G intron_variant LIRI-JP 12 41812568 41812568 single base substitution A G intron_variant LIRI-JP 12 41813119 41813119 single base substitution C A intron_variant LIRI-JP 12 41814411 41814411 single base substitution C A intron_variant LIRI-JP 12 41815468 41815468 single base substitution C A intron_variant LIRI-JP 12 41816694 41816694 single base substitution T C intron_variant LIRI-JP 12 41816869 41816869 single base substitution T C intron_variant LIRI-JP 12 41817060 41817060 single base substitution C T intron_variant LIRI-JP 12 41818261 41818261 single base substitution T C intron_variant LIRI-JP 12 41818405 41818405 single base substitution A G intron_variant LIRI-JP 12 41819550 41819550 single base substitution T A intron_variant LIRI-JP 12 41820631 41820648 deletion of <=200bp AAGGAATGGATGCACACA - intron_variant LIRI-JP 12 41821095 41821095 single base substitution A G intron_variant LIRI-JP 12 41821797 41821797 single base substitution G A intron_variant LIRI-JP 12 41821830 41821830 single base substitution T C intron_variant LIRI-JP 12 41822580 41822580 single base substitution A T intron_variant LIRI-JP 12 41822642 41822642 single base substitution G A intron_variant LIRI-JP 12 41822992 41822992 single base substitution T G intron_variant LIRI-JP 12 41823463 41823463 single base substitution C T intron_variant LIRI-JP 12 41824245 41824245 single base substitution C A intron_variant LIRI-JP 12 41824828 41824828 single base substitution G A intron_variant LIRI-JP 12 41825141 41825141 single base substitution G T intron_variant LIRI-JP 12 41825857 41825857 single base substitution T C intron_variant LIRI-JP 12 41825859 41825859 single base substitution C A intron_variant LIRI-JP 12 41826594 41826594 single base substitution T C intron_variant LIRI-JP 12 41826594 41826594 single base substitution T C upstream_gene_variant LIRI-JP 12 41826804 41826804 single base substitution C T intron_variant LIRI-JP 12 41826804 41826804 single base substitution C T upstream_gene_variant LIRI-JP 12 41827091 41827091 single base substitution G A intron_variant LIRI-JP 12 41827091 41827091 single base substitution G A upstream_gene_variant LIRI-JP 12 41827423 41827423 single base substitution G A intron_variant LIRI-JP 12 41827423 41827423 single base substitution G A upstream_gene_variant LIRI-JP 12 41828153 41828153 single base substitution T C intron_variant LIRI-JP 12 41828153 41828153 single base substitution T C upstream_gene_variant LIRI-JP 12 41829349 41829349 single base substitution G T intron_variant LIRI-JP 12 41829349 41829349 single base substitution G T upstream_gene_variant LIRI-JP 12 41830066 41830066 single base substitution C G intron_variant LIRI-JP 12 41830066 41830066 single base substitution C G upstream_gene_variant LIRI-JP 12 41830994 41830994 single base substitution A G intron_variant LIRI-JP 12 41830994 41830994 single base substitution A G upstream_gene_variant LIRI-JP 12 41831211 41831211 single base substitution A T intron_variant LIRI-JP 12 41831211 41831211 single base substitution A T upstream_gene_variant LIRI-JP 12 41831618 41831618 single base substitution T C 5_prime_UTR_variant LIRI-JP 12 41831618 41831618 single base substitution T C intron_variant LIRI-JP 12 41831829 41831829 deletion of <=200bp C - intron_variant LIRI-JP 12 41832522 41832522 single base substitution T C intron_variant LIRI-JP 12 41832561 41832561 single base substitution T C intron_variant LIRI-JP 12 41832848 41832848 single base substitution C A intron_variant LIRI-JP 12 41835909 41835909 single base substitution C A intron_variant LIRI-JP 12 41836269 41836269 single base substitution G A intron_variant LIRI-JP 12 41836582 41836582 single base substitution G C intron_variant LIRI-JP 12 41836625 41836625 single base substitution A C intron_variant LIRI-JP 12 41836833 41836833 single base substitution T C intron_variant LIRI-JP 12 41837176 41837176 single base substitution T C intron_variant LIRI-JP 12 41837588 41837588 single base substitution A T intron_variant LIRI-JP 12 41837739 41837739 single base substitution A G intron_variant LIRI-JP 12 41837873 41837873 single base substitution A T intron_variant LIRI-JP 12 41839848 41839848 single base substitution C T intron_variant LIRI-JP 12 41839957 41839957 single base substitution A G intron_variant LIRI-JP 12 41839991 41839991 single base substitution G T intron_variant LIRI-JP 12 41839998 41839998 single base substitution T C intron_variant LIRI-JP 12 41840375 41840375 single base substitution T C intron_variant LIRI-JP 12 41840524 41840524 single base substitution T C intron_variant LIRI-JP 12 41840758 41840758 single base substitution T C intron_variant LIRI-JP 12 41840914 41840914 single base substitution A C intron_variant LIRI-JP 12 41841033 41841033 single base substitution C G intron_variant LIRI-JP 12 41841592 41841592 single base substitution T C intron_variant LIRI-JP 12 41842059 41842059 single base substitution C A intron_variant LIRI-JP 12 41842687 41842687 single base substitution C A intron_variant LIRI-JP 12 41842688 41842688 single base substitution C T intron_variant LIRI-JP 12 41843242 41843242 single base substitution A G intron_variant LIRI-JP 12 41843692 41843692 single base substitution T G intron_variant LIRI-JP 12 41844597 41844597 single base substitution G T intron_variant LIRI-JP 12 41845124 41845124 single base substitution T C intron_variant LIRI-JP 12 41845242 41845242 single base substitution A C intron_variant LIRI-JP 12 41845765 41845765 single base substitution C A intron_variant LIRI-JP 12 41846158 41846158 single base substitution G A intron_variant LIRI-JP 12 41846629 41846629 single base substitution G A intron_variant LIRI-JP 12 41846818 41846818 single base substitution C A intron_variant LIRI-JP 12 41846930 41846930 single base substitution T C intron_variant LIRI-JP 12 41847963 41847963 single base substitution T A intron_variant LIRI-JP 12 41848117 41848117 single base substitution G T intron_variant LIRI-JP 12 41848118 41848118 single base substitution G T intron_variant LIRI-JP 12 41848140 41848140 single base substitution C G intron_variant LIRI-JP 12 41849106 41849106 single base substitution C A intron_variant LIRI-JP 12 41849171 41849171 single base substitution C T intron_variant LIRI-JP 12 41849746 41849746 single base substitution C A intron_variant LIRI-JP 12 41850113 41850113 single base substitution C G intron_variant LIRI-JP 12 41850283 41850283 single base substitution G T intron_variant LIRI-JP 12 41851591 41851591 single base substitution A T intron_variant LIRI-JP 12 41852033 41852033 single base substitution C T intron_variant LIRI-JP 12 41853784 41853784 single base substitution G A 5_prime_UTR_variant LIRI-JP 12 41853784 41853784 single base substitution G A intron_variant LIRI-JP 12 41854470 41854470 single base substitution A G intron_variant LIRI-JP 12 41854870 41854870 single base substitution C A intron_variant LIRI-JP 12 41855108 41855108 single base substitution A G intron_variant LIRI-JP 12 41855158 41855158 single base substitution T C intron_variant LIRI-JP 12 41856331 41856331 single base substitution C A intron_variant LIRI-JP 12 41856702 41856702 single base substitution T C intron_variant LIRI-JP 12 41857330 41857330 single base substitution A C intron_variant LIRI-JP 12 41857940 41857940 single base substitution T C intron_variant LIRI-JP 12 41858311 41858311 single base substitution T C intron_variant LIRI-JP 12 41859039 41859039 single base substitution C T intron_variant LIRI-JP 12 41859210 41859210 single base substitution C A intron_variant LIRI-JP 12 41859262 41859262 insertion of <=200bp - T intron_variant LIRI-JP 12 41859452 41859452 single base substitution C A intron_variant LIRI-JP 12 41859521 41859521 single base substitution A C intron_variant LIRI-JP 12 41860485 41860485 single base substitution T C intron_variant LIRI-JP 12 41860702 41860702 single base substitution A G intron_variant LIRI-JP 12 41860752 41860752 single base substitution G T intron_variant LIRI-JP 12 41860904 41860904 insertion of <=200bp - A intron_variant LIRI-JP 12 41861392 41861392 single base substitution A G intron_variant LIRI-JP 12 41862208 41862208 single base substitution C T intron_variant LIRI-JP 12 41862456 41862456 single base substitution T C intron_variant LIRI-JP 12 41863542 41863542 single base substitution G A intron_variant LIRI-JP 12 41864830 41864830 single base substitution G A intron_variant LIRI-JP 12 41864934 41864934 single base substitution T A intron_variant LIRI-JP 12 41865094 41865094 single base substitution G T intron_variant LIRI-JP 12 41865254 41865254 single base substitution C A intron_variant LIRI-JP 12 41865497 41865497 single base substitution A T intron_variant LIRI-JP 12 41865563 41865563 single base substitution C T intron_variant LIRI-JP 12 41865640 41865640 single base substitution C G intron_variant LIRI-JP 12 41865964 41865964 single base substitution C A intron_variant LIRI-JP 12 41866069 41866069 single base substitution T C intron_variant LIRI-JP 12 41866623 41866623 single base substitution G A intron_variant LIRI-JP 12 41868274 41868274 single base substitution T C intron_variant LIRI-JP 12 41868414 41868414 single base substitution G A intron_variant LIRI-JP 12 41868537 41868537 single base substitution G T intron_variant LIRI-JP 12 41868731 41868731 single base substitution G T intron_variant LIRI-JP 12 41868774 41868774 single base substitution T G intron_variant LIRI-JP 12 41869123 41869123 single base substitution A T intron_variant LIRI-JP 12 41869669 41869669 single base substitution A G intron_variant LIRI-JP 12 41869963 41869963 single base substitution A G intron_variant LIRI-JP 12 41870377 41870377 single base substitution T A intron_variant LIRI-JP 12 41870973 41870973 single base substitution T C intron_variant LIRI-JP 12 41871213 41871213 single base substitution C G intron_variant LIRI-JP 12 41872506 41872506 single base substitution T A intron_variant LIRI-JP 12 41872700 41872700 single base substitution A T intron_variant LIRI-JP 12 41873126 41873126 single base substitution A C intron_variant LIRI-JP 12 41873766 41873766 single base substitution T C intron_variant LIRI-JP 12 41873793 41873793 single base substitution A T intron_variant LIRI-JP 12 41874121 41874121 single base substitution T G intron_variant LIRI-JP 12 41874683 41874683 deletion of <=200bp G - intron_variant LIRI-JP 12 41875468 41875468 single base substitution C A intron_variant LIRI-JP 12 41875506 41875506 single base substitution T A intron_variant LIRI-JP 12 41876146 41876146 single base substitution C A intron_variant LIRI-JP 12 41876407 41876407 single base substitution G A intron_variant LIRI-JP 12 41876489 41876489 single base substitution G T intron_variant LIRI-JP 12 41876642 41876642 single base substitution T C intron_variant LIRI-JP 12 41877598 41877598 single base substitution C T intron_variant LIRI-JP 12 41877735 41877735 single base substitution A G intron_variant LIRI-JP 12 41878199 41878199 single base substitution G T intron_variant LIRI-JP 12 41878315 41878315 single base substitution A T intron_variant LIRI-JP 12 41878542 41878542 single base substitution A G intron_variant LIRI-JP 12 41880257 41880257 single base substitution T A intron_variant LIRI-JP 12 41880364 41880364 single base substitution A G intron_variant LIRI-JP 12 41882377 41882377 single base substitution C T intron_variant LIRI-JP 12 41882475 41882475 single base substitution G A intron_variant LIRI-JP 12 41883233 41883233 single base substitution T G intron_variant LIRI-JP 12 41883602 41883602 single base substitution A G intron_variant LIRI-JP 12 41884440 41884440 single base substitution C A intron_variant LIRI-JP 12 41884621 41884621 deletion of <=200bp C - intron_variant LIRI-JP 12 41884817 41884817 single base substitution G T intron_variant LIRI-JP 12 41884934 41884934 single base substitution A T intron_variant LIRI-JP 12 41885499 41885499 single base substitution A G intron_variant LIRI-JP 12 41885579 41885579 single base substitution T G intron_variant LIRI-JP 12 41885597 41885597 single base substitution A G intron_variant LIRI-JP 12 41885841 41885841 single base substitution A G intron_variant LIRI-JP 12 41885917 41885917 single base substitution T A intron_variant LIRI-JP 12 41886058 41886058 single base substitution T C intron_variant LIRI-JP 12 41886470 41886470 single base substitution A G intron_variant LIRI-JP 12 41886745 41886745 single base substitution A G intron_variant LIRI-JP 12 41887075 41887075 single base substitution T C intron_variant LIRI-JP 12 41887263 41887263 single base substitution A G intron_variant LIRI-JP 12 41888875 41888875 single base substitution T C intron_variant LIRI-JP 12 41889487 41889487 single base substitution T C intron_variant LIRI-JP 12 41889849 41889849 single base substitution A C intron_variant LIRI-JP 12 41890013 41890013 single base substitution G T intron_variant LIRI-JP 12 41890125 41890125 single base substitution G A intron_variant LIRI-JP 12 41890364 41890364 single base substitution G A intron_variant LIRI-JP 12 41890446 41890446 single base substitution A T intron_variant LIRI-JP 12 41890831 41890831 single base substitution C A intron_variant LIRI-JP 12 41891399 41891399 single base substitution A G intron_variant LIRI-JP 12 41891574 41891574 single base substitution G A intron_variant LIRI-JP 12 41891627 41891627 single base substitution G A intron_variant LIRI-JP 12 41891875 41891875 single base substitution C A intron_variant LIRI-JP 12 41892522 41892522 single base substitution T C intron_variant LIRI-JP 12 41892903 41892903 single base substitution A G intron_variant LIRI-JP 12 41894442 41894442 single base substitution T C intron_variant LIRI-JP 12 41894621 41894621 single base substitution G A intron_variant LIRI-JP 12 41895235 41895235 single base substitution G C intron_variant LIRI-JP 12 41896252 41896252 single base substitution C G intron_variant LIRI-JP 12 41896458 41896458 single base substitution G T intron_variant LIRI-JP 12 41896517 41896517 single base substitution A T intron_variant LIRI-JP 12 41896771 41896771 single base substitution T C intron_variant LIRI-JP 12 41897495 41897495 single base substitution A G intron_variant LIRI-JP 12 41898862 41898862 single base substitution C A intron_variant LIRI-JP 12 41898862 41898862 single base substitution C A upstream_gene_variant LIRI-JP 12 41899025 41899025 single base substitution G T intron_variant LIRI-JP 12 41899025 41899025 single base substitution G T upstream_gene_variant LIRI-JP 12 41899450 41899450 single base substitution T C intron_variant LIRI-JP 12 41899450 41899450 single base substitution T C upstream_gene_variant LIRI-JP 12 41899578 41899578 single base substitution T C intron_variant LIRI-JP 12 41899578 41899578 single base substitution T C upstream_gene_variant LIRI-JP 12 41899849 41899849 single base substitution T C intron_variant LIRI-JP 12 41899849 41899849 single base substitution T C upstream_gene_variant LIRI-JP 12 41899869 41899869 single base substitution G A intron_variant LIRI-JP 12 41899869 41899869 single base substitution G A upstream_gene_variant LIRI-JP 12 41900648 41900648 single base substitution C G intron_variant LIRI-JP 12 41900648 41900648 single base substitution C G upstream_gene_variant LIRI-JP 12 41900929 41900929 single base substitution C G intron_variant LIRI-JP 12 41900929 41900929 single base substitution C G upstream_gene_variant LIRI-JP 12 41901554 41901554 single base substitution A G intron_variant LIRI-JP 12 41901554 41901554 single base substitution A G upstream_gene_variant LIRI-JP 12 41903044 41903044 single base substitution G T intron_variant LIRI-JP 12 41903044 41903044 single base substitution G T upstream_gene_variant LIRI-JP 12 41903057 41903057 single base substitution G A intron_variant LIRI-JP 12 41903057 41903057 single base substitution G A upstream_gene_variant LIRI-JP 12 41903271 41903271 single base substitution C A intron_variant LIRI-JP 12 41903271 41903271 single base substitution C A upstream_gene_variant LIRI-JP 12 41904143 41904143 single base substitution G A intron_variant LIRI-JP 12 41905018 41905018 single base substitution G T intron_variant LIRI-JP 12 41905273 41905273 single base substitution C T intron_variant LIRI-JP 12 41906902 41906902 single base substitution G C intron_variant LIRI-JP 12 41907903 41907903 single base substitution A T intron_variant LIRI-JP 12 41909894 41909894 single base substitution G A intron_variant LIRI-JP 12 41910175 41910175 single base substitution A G intron_variant LIRI-JP 12 41910252 41910252 single base substitution G T intron_variant LIRI-JP 12 41910593 41910593 single base substitution A G intron_variant LIRI-JP 12 41911970 41911970 single base substitution C A intron_variant LIRI-JP 12 41912081 41912081 single base substitution C G intron_variant LIRI-JP 12 41913131 41913131 single base substitution G T intron_variant LIRI-JP 12 41913571 41913571 single base substitution G A intron_variant LIRI-JP 12 41914241 41914241 single base substitution A T intron_variant LIRI-JP 12 41914242 41914242 single base substitution G T intron_variant LIRI-JP 12 41914382 41914382 single base substitution A T intron_variant LIRI-JP 12 41914918 41914918 single base substitution T C intron_variant LIRI-JP 12 41915990 41915990 single base substitution C T intron_variant LIRI-JP 12 41916833 41916833 single base substitution G C intron_variant LIRI-JP 12 41917063 41917063 single base substitution A T intron_variant LIRI-JP 12 41917426 41917426 single base substitution T A intron_variant LIRI-JP 12 41917825 41917825 single base substitution A G intron_variant LIRI-JP 12 41918035 41918035 single base substitution T C intron_variant LIRI-JP 12 41919040 41919040 single base substitution T G intron_variant LIRI-JP 12 41921044 41921044 single base substitution T C intron_variant LIRI-JP 12 41922899 41922899 single base substitution A G intron_variant LIRI-JP 12 41923626 41923626 single base substitution C A intron_variant LIRI-JP 12 41926745 41926745 single base substitution T C intron_variant LIRI-JP 12 41927079 41927079 single base substitution C A intron_variant LIRI-JP 12 41928326 41928326 single base substitution T C intron_variant LIRI-JP 12 41928328 41928328 single base substitution A T intron_variant LIRI-JP 12 41929150 41929150 single base substitution A G intron_variant LIRI-JP 12 41930800 41930800 single base substitution A G intron_variant LIRI-JP 12 41931129 41931129 single base substitution T C intron_variant LIRI-JP 12 41933179 41933179 single base substitution T C intron_variant LIRI-JP 12 41933299 41933299 single base substitution G T intron_variant LIRI-JP 12 41933443 41933443 single base substitution T C intron_variant LIRI-JP 12 41935143 41935143 single base substitution T C intron_variant LIRI-JP 12 41935176 41935176 single base substitution C T intron_variant LIRI-JP 12 41935558 41935558 single base substitution C A intron_variant LIRI-JP 12 41937310 41937310 single base substitution G T intron_variant LIRI-JP 12 41937612 41937612 single base substitution G C intron_variant LIRI-JP 12 41937696 41937696 single base substitution A G intron_variant LIRI-JP 12 41937715 41937715 single base substitution T C intron_variant LIRI-JP 12 41941180 41941180 single base substitution C G intron_variant LIRI-JP 12 41941338 41941338 single base substitution G T intron_variant LIRI-JP 12 41941933 41941933 single base substitution T A intron_variant LIRI-JP 12 41942323 41942323 single base substitution G A intron_variant LIRI-JP 12 41942494 41942494 single base substitution T C intron_variant LIRI-JP 12 41942997 41942997 single base substitution T C intron_variant LIRI-JP 12 41942999 41942999 single base substitution A T intron_variant LIRI-JP 12 41943182 41943182 single base substitution C T intron_variant LIRI-JP 12 41944025 41944025 single base substitution T C intron_variant LIRI-JP 12 41944323 41944323 single base substitution G T intron_variant LIRI-JP 12 41944363 41944363 single base substitution C A intron_variant LIRI-JP 12 41945503 41945503 single base substitution T C intron_variant LIRI-JP 12 41946819 41946819 single base substitution T G intron_variant LIRI-JP 12 41946832 41946832 single base substitution A G intron_variant LIRI-JP 12 41947166 41947166 single base substitution A G intron_variant LIRI-JP 12 41947554 41947554 single base substitution A G intron_variant LIRI-JP 12 41947768 41947768 single base substitution G T intron_variant LIRI-JP 12 41947769 41947769 single base substitution G T intron_variant LIRI-JP 12 41947789 41947789 single base substitution G A intron_variant LIRI-JP 12 41948368 41948368 single base substitution T C intron_variant LIRI-JP 12 41948559 41948559 single base substitution T C intron_variant LIRI-JP 12 41948981 41948981 single base substitution G A intron_variant LIRI-JP 12 41949243 41949243 single base substitution T C intron_variant LIRI-JP 12 41949318 41949318 single base substitution A T intron_variant LIRI-JP 12 41950046 41950046 single base substitution C T intron_variant LIRI-JP 12 41950296 41950296 single base substitution T A intron_variant LIRI-JP 12 41950825 41950825 single base substitution C T intron_variant LIRI-JP 12 41951938 41951938 single base substitution C A intron_variant LIRI-JP 12 41952718 41952718 single base substitution C A intron_variant LIRI-JP 12 41953623 41953623 single base substitution T C intron_variant LIRI-JP 12 41954269 41954269 single base substitution A G intron_variant LIRI-JP 12 41955145 41955145 single base substitution A G intron_variant LIRI-JP 12 41956008 41956008 single base substitution A G intron_variant LIRI-JP 12 41956199 41956199 single base substitution C G intron_variant LIRI-JP 12 41956751 41956751 single base substitution G A intron_variant LIRI-JP 12 41956944 41956944 single base substitution C T intron_variant LIRI-JP 12 41957872 41957872 single base substitution C A intron_variant LIRI-JP 12 41958847 41958847 single base substitution T C intron_variant LIRI-JP 12 41959418 41959418 single base substitution C G intron_variant LIRI-JP 12 41959509 41959509 single base substitution T C intron_variant LIRI-JP 12 41960206 41960206 single base substitution A G intron_variant LIRI-JP 12 41960317 41960317 single base substitution A T intron_variant LIRI-JP 12 41962257 41962258 deletion of <=200bp CA - intron_variant LIRI-JP 12 41963817 41963817 single base substitution A C intron_variant LIRI-JP 12 41964348 41964348 single base substitution T A intron_variant LIRI-JP 12 41965001 41965001 single base substitution C A intron_variant LIRI-JP 12 41965592 41965592 single base substitution A G intron_variant LIRI-JP 12 41965611 41965611 single base substitution A G intron_variant LIRI-JP 12 41966258 41966258 single base substitution T A exon_variant LIRI-JP 12 41966258 41966258 single base substitution T A missense_variant D299E 897T>A LIRI-JP 12 41966258 41966258 single base substitution T A missense_variant D301E 903T>A LIRI-JP 12 41966258 41966258 single base substitution T A missense_variant D559E 1677T>A LIRI-JP 12 41966693 41966693 single base substitution T C exon_variant LIRI-JP 12 41966693 41966693 single base substitution T C synonymous_variant D444D 1332T>C LIRI-JP 12 41966693 41966693 single base substitution T C synonymous_variant D446D 1338T>C LIRI-JP 12 41966693 41966693 single base substitution T C synonymous_variant D704D 2112T>C LIRI-JP 12 41966956 41966956 single base substitution C A exon_variant LIRI-JP 12 41966956 41966956 single base substitution C A missense_variant S532Y 1595C>A LIRI-JP 12 41966956 41966956 single base substitution C A missense_variant S534Y 1601C>A LIRI-JP 12 41966956 41966956 single base substitution C A missense_variant S792Y 2375C>A LIRI-JP 12 41967083 41967083 single base substitution C G exon_variant LIRI-JP 12 41967083 41967083 single base substitution C G missense_variant H574Q 1722C>G LIRI-JP 12 41967083 41967083 single base substitution C G missense_variant H576Q 1728C>G LIRI-JP 12 41967083 41967083 single base substitution C G missense_variant H834Q 2502C>G LIRI-JP 12 41967349 41967349 single base substitution G A exon_variant LIRI-JP 12 41967349 41967349 single base substitution G A missense_variant S663N 1988G>A LIRI-JP 12 41967349 41967349 single base substitution G A missense_variant S665N 1994G>A LIRI-JP 12 41967349 41967349 single base substitution G A missense_variant S923N 2768G>A LIRI-JP 12 41968001 41968001 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 41968001 41968001 single base substitution T C downstream_gene_variant LIRI-JP 12 41968001 41968001 single base substitution T C exon_variant LIRI-JP 12 41968056 41968056 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 41968056 41968056 single base substitution T C downstream_gene_variant LIRI-JP 12 41968056 41968056 single base substitution T C exon_variant LIRI-JP 12 41968664 41968664 single base substitution C G downstream_gene_variant LIRI-JP 12 41969968 41969968 single base substitution A G downstream_gene_variant LIRI-JP 12 41970604 41970604 single base substitution G A downstream_gene_variant LIRI-JP 12 41971091 41971091 single base substitution C T downstream_gene_variant LIRI-JP 12 41971398 41971398 single base substitution A C downstream_gene_variant LIRI-JP 12 41972356 41972356 single base substitution C T downstream_gene_variant LIRI-JP 12 41972943 41972943 single base substitution A T downstream_gene_variant LIRI-JP 12 41973301 41973311 deletion of <=200bp GCACAGTAGTA - downstream_gene_variant LUSC-KR 12 41579849 41579849 single base substitution C G upstream_gene_variant LUSC-KR 12 41581445 41581445 single base substitution T C upstream_gene_variant LUSC-KR 12 41588011 41588011 single base substitution G C intron_variant LUSC-KR 12 41589150 41589150 single base substitution A G intron_variant LUSC-KR 12 41590712 41590712 single base substitution G C intron_variant LUSC-KR 12 41592210 41592210 single base substitution C A intron_variant LUSC-KR 12 41592326 41592326 single base substitution T C intron_variant LUSC-KR 12 41594650 41594650 single base substitution C T intron_variant LUSC-KR 12 41594960 41594960 single base substitution T C intron_variant LUSC-KR 12 41595193 41595193 single base substitution T C intron_variant LUSC-KR 12 41595281 41595281 single base substitution A T intron_variant LUSC-KR 12 41596922 41596922 single base substitution G T intron_variant LUSC-KR 12 41598844 41598844 single base substitution A G intron_variant LUSC-KR 12 41600490 41600490 single base substitution G C intron_variant LUSC-KR 12 41601468 41601468 single base substitution T C intron_variant LUSC-KR 12 41601922 41601922 single base substitution G A intron_variant LUSC-KR 12 41603371 41603371 single base substitution T A intron_variant LUSC-KR 12 41605954 41605954 single base substitution A G intron_variant LUSC-KR 12 41606932 41606932 single base substitution G T intron_variant LUSC-KR 12 41607493 41607493 single base substitution C G intron_variant LUSC-KR 12 41609814 41609814 single base substitution A G intron_variant LUSC-KR 12 41609945 41609945 single base substitution A T intron_variant LUSC-KR 12 41610340 41610340 single base substitution G A intron_variant LUSC-KR 12 41610505 41610505 single base substitution T C intron_variant LUSC-KR 12 41614738 41614738 single base substitution G T intron_variant LUSC-KR 12 41615695 41615695 single base substitution C A intron_variant LUSC-KR 12 41616220 41616220 single base substitution C T intron_variant LUSC-KR 12 41616648 41616648 single base substitution C T intron_variant LUSC-KR 12 41617124 41617124 single base substitution C T intron_variant LUSC-KR 12 41621947 41621947 single base substitution C T intron_variant LUSC-KR 12 41622540 41622540 single base substitution G C intron_variant LUSC-KR 12 41625008 41625008 single base substitution G T intron_variant LUSC-KR 12 41625502 41625502 single base substitution A G intron_variant LUSC-KR 12 41626153 41626153 single base substitution G A intron_variant LUSC-KR 12 41626746 41626746 single base substitution G T intron_variant LUSC-KR 12 41627601 41627601 single base substitution G A intron_variant LUSC-KR 12 41627814 41627814 single base substitution C T intron_variant LUSC-KR 12 41627856 41627856 single base substitution A T intron_variant LUSC-KR 12 41628322 41628322 single base substitution T A intron_variant LUSC-KR 12 41628770 41628770 single base substitution A G intron_variant LUSC-KR 12 41629167 41629167 single base substitution G A intron_variant LUSC-KR 12 41630534 41630534 single base substitution A T intron_variant LUSC-KR 12 41631523 41631523 single base substitution G C intron_variant LUSC-KR 12 41631871 41631871 single base substitution C A intron_variant LUSC-KR 12 41633861 41633861 single base substitution T C intron_variant LUSC-KR 12 41635256 41635256 single base substitution G C intron_variant LUSC-KR 12 41638396 41638396 single base substitution G A intron_variant LUSC-KR 12 41639343 41639343 single base substitution G A intron_variant LUSC-KR 12 41640244 41640244 single base substitution A G intron_variant LUSC-KR 12 41640480 41640480 single base substitution C G intron_variant LUSC-KR 12 41641052 41641052 single base substitution C A intron_variant LUSC-KR 12 41644407 41644407 single base substitution G T intron_variant LUSC-KR 12 41644987 41644987 single base substitution A G intron_variant LUSC-KR 12 41645991 41645991 single base substitution C T intron_variant LUSC-KR 12 41647189 41647189 single base substitution A G intron_variant LUSC-KR 12 41647524 41647524 single base substitution A G intron_variant LUSC-KR 12 41648783 41648783 single base substitution G A intron_variant LUSC-KR 12 41649170 41649170 single base substitution G T intron_variant LUSC-KR 12 41650061 41650061 single base substitution A T intron_variant LUSC-KR 12 41652107 41652107 single base substitution C A intron_variant LUSC-KR 12 41652490 41652490 single base substitution C A intron_variant LUSC-KR 12 41655343 41655343 single base substitution G T intron_variant LUSC-KR 12 41655738 41655738 single base substitution G A intron_variant LUSC-KR 12 41658544 41658544 single base substitution A G intron_variant LUSC-KR 12 41658882 41658882 single base substitution C A intron_variant LUSC-KR 12 41658883 41658883 single base substitution C A intron_variant LUSC-KR 12 41660272 41660272 single base substitution C A intron_variant LUSC-KR 12 41660279 41660279 single base substitution T A intron_variant LUSC-KR 12 41660322 41660322 single base substitution G T intron_variant LUSC-KR 12 41661280 41661280 single base substitution C A intron_variant LUSC-KR 12 41662109 41662109 single base substitution C A intron_variant LUSC-KR 12 41663123 41663123 single base substitution G C intron_variant LUSC-KR 12 41665048 41665048 single base substitution A G intron_variant LUSC-KR 12 41665703 41665703 single base substitution T C intron_variant LUSC-KR 12 41667869 41667869 single base substitution T C intron_variant LUSC-KR 12 41669002 41669002 single base substitution C T intron_variant LUSC-KR 12 41669590 41669590 single base substitution C A intron_variant LUSC-KR 12 41674264 41674264 single base substitution T C intron_variant LUSC-KR 12 41676154 41676154 single base substitution G T intron_variant LUSC-KR 12 41676988 41676988 single base substitution C T intron_variant LUSC-KR 12 41679828 41679828 single base substitution A G intron_variant LUSC-KR 12 41680119 41680119 single base substitution G T intron_variant LUSC-KR 12 41680165 41680165 single base substitution G T intron_variant LUSC-KR 12 41683785 41683785 single base substitution G T intron_variant LUSC-KR 12 41686067 41686067 single base substitution G A intron_variant LUSC-KR 12 41686625 41686625 single base substitution G T intron_variant LUSC-KR 12 41687672 41687672 single base substitution A G intron_variant LUSC-KR 12 41688466 41688466 single base substitution G A intron_variant LUSC-KR 12 41688522 41688522 single base substitution G T intron_variant LUSC-KR 12 41688642 41688642 single base substitution G T intron_variant LUSC-KR 12 41690351 41690351 single base substitution G T intron_variant LUSC-KR 12 41691905 41691905 single base substitution G A intron_variant LUSC-KR 12 41692189 41692189 single base substitution T C intron_variant LUSC-KR 12 41692234 41692234 single base substitution C G intron_variant LUSC-KR 12 41692558 41692558 single base substitution G C intron_variant LUSC-KR 12 41693237 41693237 single base substitution G A intron_variant LUSC-KR 12 41693776 41693776 single base substitution A G intron_variant LUSC-KR 12 41695775 41695775 single base substitution C T intron_variant LUSC-KR 12 41695866 41695866 single base substitution G T intron_variant LUSC-KR 12 41696366 41696366 single base substitution A T intron_variant LUSC-KR 12 41698854 41698854 single base substitution G T intron_variant LUSC-KR 12 41700002 41700002 single base substitution C G intron_variant LUSC-KR 12 41700486 41700486 single base substitution C T intron_variant LUSC-KR 12 41702570 41702570 single base substitution T C intron_variant LUSC-KR 12 41703976 41703976 single base substitution C A intron_variant LUSC-KR 12 41704089 41704089 single base substitution T C intron_variant LUSC-KR 12 41705100 41705100 single base substitution C A intron_variant LUSC-KR 12 41705410 41705410 single base substitution C A intron_variant LUSC-KR 12 41707905 41707905 single base substitution C T intron_variant LUSC-KR 12 41710544 41710544 single base substitution T C intron_variant LUSC-KR 12 41711390 41711390 single base substitution G T intron_variant LUSC-KR 12 41714354 41714354 single base substitution G T intron_variant LUSC-KR 12 41714533 41714533 single base substitution T A intron_variant LUSC-KR 12 41716458 41716458 single base substitution A G intron_variant LUSC-KR 12 41716802 41716802 single base substitution C T intron_variant LUSC-KR 12 41718972 41718972 single base substitution G T intron_variant LUSC-KR 12 41720674 41720674 single base substitution G A intron_variant LUSC-KR 12 41721316 41721316 single base substitution T A intron_variant LUSC-KR 12 41725795 41725795 single base substitution G T intron_variant LUSC-KR 12 41726367 41726367 single base substitution G A intron_variant LUSC-KR 12 41728909 41728909 single base substitution G A intron_variant LUSC-KR 12 41730590 41730590 single base substitution G A intron_variant LUSC-KR 12 41731484 41731484 single base substitution C A intron_variant LUSC-KR 12 41731710 41731710 single base substitution T C intron_variant LUSC-KR 12 41732054 41732054 single base substitution C A intron_variant LUSC-KR 12 41732643 41732643 single base substitution C G intron_variant LUSC-KR 12 41735572 41735572 single base substitution C G intron_variant LUSC-KR 12 41738219 41738219 single base substitution G C intron_variant LUSC-KR 12 41739331 41739331 single base substitution C A intron_variant LUSC-KR 12 41739332 41739332 single base substitution C A intron_variant LUSC-KR 12 41740084 41740084 single base substitution G C intron_variant LUSC-KR 12 41741406 41741406 single base substitution C A intron_variant LUSC-KR 12 41741883 41741883 single base substitution T C intron_variant LUSC-KR 12 41741918 41741918 single base substitution C G intron_variant LUSC-KR 12 41742460 41742460 single base substitution C G intron_variant LUSC-KR 12 41742538 41742538 single base substitution T C intron_variant LUSC-KR 12 41742562 41742562 single base substitution T C intron_variant LUSC-KR 12 41746407 41746407 single base substitution C A intron_variant LUSC-KR 12 41747999 41747999 single base substitution G A intron_variant LUSC-KR 12 41748277 41748277 single base substitution T C intron_variant LUSC-KR 12 41748819 41748819 single base substitution A T intron_variant LUSC-KR 12 41752153 41752153 single base substitution A T intron_variant LUSC-KR 12 41754844 41754844 single base substitution C A intron_variant LUSC-KR 12 41755910 41755910 single base substitution T C intron_variant LUSC-KR 12 41756135 41756135 single base substitution C A intron_variant LUSC-KR 12 41759897 41759897 single base substitution G T intron_variant LUSC-KR 12 41761079 41761079 single base substitution A T intron_variant LUSC-KR 12 41766462 41766462 single base substitution G A intron_variant LUSC-KR 12 41766898 41766898 single base substitution G T intron_variant LUSC-KR 12 41767483 41767483 single base substitution A G intron_variant LUSC-KR 12 41767605 41767605 single base substitution T A intron_variant LUSC-KR 12 41768339 41768339 single base substitution G C intron_variant LUSC-KR 12 41772700 41772700 single base substitution C G intron_variant LUSC-KR 12 41773205 41773205 single base substitution G T intron_variant LUSC-KR 12 41775347 41775347 single base substitution C G intron_variant LUSC-KR 12 41775835 41775835 single base substitution G T intron_variant LUSC-KR 12 41775945 41775945 single base substitution A T intron_variant LUSC-KR 12 41777631 41777631 single base substitution A T intron_variant LUSC-KR 12 41777904 41777904 single base substitution A T intron_variant LUSC-KR 12 41778375 41778375 single base substitution G T intron_variant LUSC-KR 12 41778732 41778732 single base substitution C T intron_variant LUSC-KR 12 41779018 41779018 single base substitution G T intron_variant LUSC-KR 12 41779651 41779651 single base substitution A G intron_variant LUSC-KR 12 41780490 41780490 single base substitution C A intron_variant LUSC-KR 12 41781245 41781245 single base substitution G T intron_variant LUSC-KR 12 41783347 41783347 single base substitution T C intron_variant LUSC-KR 12 41785367 41785367 single base substitution C G intron_variant LUSC-KR 12 41788008 41788008 single base substitution C A intron_variant LUSC-KR 12 41788201 41788201 single base substitution T A intron_variant LUSC-KR 12 41789621 41789621 single base substitution T C intron_variant LUSC-KR 12 41790258 41790258 single base substitution A T intron_variant LUSC-KR 12 41794446 41794446 single base substitution C A intron_variant LUSC-KR 12 41796678 41796678 single base substitution A C intron_variant LUSC-KR 12 41796731 41796731 single base substitution G C intron_variant LUSC-KR 12 41797563 41797563 single base substitution T C intron_variant LUSC-KR 12 41798050 41798050 single base substitution C G intron_variant LUSC-KR 12 41798476 41798476 single base substitution C A intron_variant LUSC-KR 12 41798676 41798676 single base substitution G C intron_variant LUSC-KR 12 41800024 41800024 single base substitution C G intron_variant LUSC-KR 12 41800423 41800423 single base substitution C T intron_variant LUSC-KR 12 41800683 41800683 single base substitution G A intron_variant LUSC-KR 12 41802071 41802071 single base substitution T A intron_variant LUSC-KR 12 41802336 41802336 single base substitution G T intron_variant LUSC-KR 12 41802435 41802435 single base substitution A C intron_variant LUSC-KR 12 41808364 41808364 single base substitution T C intron_variant LUSC-KR 12 41808558 41808558 single base substitution A G intron_variant LUSC-KR 12 41810648 41810648 single base substitution G T intron_variant LUSC-KR 12 41811153 41811153 single base substitution A T intron_variant LUSC-KR 12 41811919 41811919 single base substitution G T intron_variant LUSC-KR 12 41814110 41814110 single base substitution A T intron_variant LUSC-KR 12 41815951 41815951 single base substitution T A intron_variant LUSC-KR 12 41817163 41817163 single base substitution G C intron_variant LUSC-KR 12 41817886 41817886 single base substitution C A intron_variant LUSC-KR 12 41817949 41817949 single base substitution A T intron_variant LUSC-KR 12 41820850 41820850 single base substitution C G intron_variant LUSC-KR 12 41822424 41822424 single base substitution G C intron_variant LUSC-KR 12 41823296 41823296 single base substitution C A intron_variant LUSC-KR 12 41826240 41826240 single base substitution G T intron_variant LUSC-KR 12 41827018 41827018 single base substitution A T intron_variant LUSC-KR 12 41827018 41827018 single base substitution A T upstream_gene_variant LUSC-KR 12 41827019 41827019 single base substitution G C intron_variant LUSC-KR 12 41827019 41827019 single base substitution G C upstream_gene_variant LUSC-KR 12 41827089 41827089 single base substitution A C intron_variant LUSC-KR 12 41827089 41827089 single base substitution A C upstream_gene_variant LUSC-KR 12 41828346 41828346 single base substitution C A intron_variant LUSC-KR 12 41828346 41828346 single base substitution C A upstream_gene_variant LUSC-KR 12 41828436 41828436 single base substitution C T intron_variant LUSC-KR 12 41828436 41828436 single base substitution C T upstream_gene_variant LUSC-KR 12 41828446 41828446 single base substitution G T intron_variant LUSC-KR 12 41828446 41828446 single base substitution G T upstream_gene_variant LUSC-KR 12 41829310 41829310 single base substitution G C intron_variant LUSC-KR 12 41829310 41829310 single base substitution G C upstream_gene_variant LUSC-KR 12 41829326 41829326 single base substitution C T intron_variant LUSC-KR 12 41829326 41829326 single base substitution C T upstream_gene_variant LUSC-KR 12 41829475 41829475 single base substitution A T intron_variant LUSC-KR 12 41829475 41829475 single base substitution A T upstream_gene_variant LUSC-KR 12 41830809 41830809 single base substitution C A intron_variant LUSC-KR 12 41830809 41830809 single base substitution C A upstream_gene_variant LUSC-KR 12 41830809 41830809 single base substitution C T intron_variant LUSC-KR 12 41830809 41830809 single base substitution C T upstream_gene_variant LUSC-KR 12 41832422 41832422 single base substitution G T intron_variant LUSC-KR 12 41833581 41833581 single base substitution G T intron_variant LUSC-KR 12 41833866 41833866 single base substitution C G intron_variant LUSC-KR 12 41839025 41839025 single base substitution C G intron_variant LUSC-KR 12 41839751 41839751 single base substitution C A intron_variant LUSC-KR 12 41842155 41842155 single base substitution A T intron_variant LUSC-KR 12 41844530 41844530 single base substitution C G intron_variant LUSC-KR 12 41844865 41844865 single base substitution T A intron_variant LUSC-KR 12 41846499 41846499 single base substitution A C intron_variant LUSC-KR 12 41846824 41846824 single base substitution C T intron_variant LUSC-KR 12 41849335 41849335 single base substitution C A intron_variant LUSC-KR 12 41849468 41849468 single base substitution T A intron_variant LUSC-KR 12 41849876 41849876 single base substitution C T intron_variant LUSC-KR 12 41850038 41850038 single base substitution C G intron_variant LUSC-KR 12 41850507 41850507 single base substitution G T intron_variant LUSC-KR 12 41851225 41851225 single base substitution G T intron_variant LUSC-KR 12 41851944 41851944 single base substitution G A intron_variant LUSC-KR 12 41852678 41852678 single base substitution G T intron_variant LUSC-KR 12 41852854 41852854 single base substitution C T intron_variant LUSC-KR 12 41852908 41852908 single base substitution G T intron_variant LUSC-KR 12 41854239 41854239 single base substitution G A intron_variant LUSC-KR 12 41857012 41857012 single base substitution C A intron_variant LUSC-KR 12 41857343 41857343 single base substitution T C intron_variant LUSC-KR 12 41857474 41857474 single base substitution C A intron_variant LUSC-KR 12 41857773 41857773 single base substitution G T intron_variant LUSC-KR 12 41857828 41857828 single base substitution G A intron_variant LUSC-KR 12 41858747 41858747 single base substitution C A intron_variant LUSC-KR 12 41858913 41858913 single base substitution C A intron_variant LUSC-KR 12 41859129 41859129 single base substitution C G intron_variant LUSC-KR 12 41859872 41859872 single base substitution A G intron_variant LUSC-KR 12 41860571 41860571 single base substitution G T intron_variant LUSC-KR 12 41862330 41862330 single base substitution T C intron_variant LUSC-KR 12 41865032 41865032 single base substitution T A intron_variant LUSC-KR 12 41865841 41865841 single base substitution C G intron_variant LUSC-KR 12 41867471 41867471 single base substitution G T intron_variant LUSC-KR 12 41868266 41868266 single base substitution G C intron_variant LUSC-KR 12 41872906 41872906 single base substitution G T intron_variant LUSC-KR 12 41874607 41874607 single base substitution T C intron_variant LUSC-KR 12 41875643 41875643 single base substitution G T intron_variant LUSC-KR 12 41876010 41876010 single base substitution C G intron_variant LUSC-KR 12 41878052 41878052 single base substitution C T intron_variant LUSC-KR 12 41878477 41878477 single base substitution T A intron_variant LUSC-KR 12 41880015 41880015 single base substitution A C intron_variant LUSC-KR 12 41880041 41880041 single base substitution C A intron_variant LUSC-KR 12 41881595 41881595 single base substitution C A intron_variant LUSC-KR 12 41881934 41881934 single base substitution T C intron_variant LUSC-KR 12 41882309 41882309 single base substitution C G intron_variant LUSC-KR 12 41883933 41883933 single base substitution C T intron_variant LUSC-KR 12 41884065 41884065 single base substitution C A intron_variant LUSC-KR 12 41889101 41889101 single base substitution A G intron_variant LUSC-KR 12 41890625 41890625 single base substitution G A intron_variant LUSC-KR 12 41890753 41890753 single base substitution C A intron_variant LUSC-KR 12 41893698 41893698 single base substitution G T intron_variant LUSC-KR 12 41893912 41893912 single base substitution G A intron_variant LUSC-KR 12 41895084 41895084 single base substitution G T intron_variant LUSC-KR 12 41895667 41895667 single base substitution T A intron_variant LUSC-KR 12 41899328 41899328 single base substitution T A intron_variant LUSC-KR 12 41899328 41899328 single base substitution T A upstream_gene_variant LUSC-KR 12 41901710 41901710 single base substitution T A intron_variant LUSC-KR 12 41901710 41901710 single base substitution T A upstream_gene_variant LUSC-KR 12 41905134 41905134 single base substitution G T intron_variant LUSC-KR 12 41907864 41907864 single base substitution G A intron_variant LUSC-KR 12 41908236 41908236 single base substitution C A intron_variant LUSC-KR 12 41908733 41908733 single base substitution C G intron_variant LUSC-KR 12 41908866 41908866 single base substitution A G intron_variant LUSC-KR 12 41909742 41909742 single base substitution C A intron_variant LUSC-KR 12 41909743 41909743 single base substitution C A intron_variant LUSC-KR 12 41910235 41910235 single base substitution G T intron_variant LUSC-KR 12 41910238 41910238 single base substitution G C intron_variant LUSC-KR 12 41910674 41910674 single base substitution A T intron_variant LUSC-KR 12 41912356 41912356 single base substitution C G intron_variant LUSC-KR 12 41914248 41914248 single base substitution C A intron_variant LUSC-KR 12 41917248 41917248 single base substitution T C intron_variant LUSC-KR 12 41917472 41917472 single base substitution C G intron_variant LUSC-KR 12 41917973 41917973 single base substitution C G intron_variant LUSC-KR 12 41921866 41921866 single base substitution A G intron_variant LUSC-KR 12 41922049 41922049 single base substitution G C intron_variant LUSC-KR 12 41922087 41922087 single base substitution A T intron_variant LUSC-KR 12 41922298 41922298 single base substitution A C intron_variant LUSC-KR 12 41922316 41922316 single base substitution C A intron_variant LUSC-KR 12 41923463 41923463 single base substitution C A intron_variant LUSC-KR 12 41923721 41923721 single base substitution C A intron_variant LUSC-KR 12 41926041 41926041 single base substitution G T intron_variant LUSC-KR 12 41926658 41926658 single base substitution A C intron_variant LUSC-KR 12 41927526 41927526 single base substitution A T intron_variant LUSC-KR 12 41930200 41930200 single base substitution G T intron_variant LUSC-KR 12 41932918 41932918 single base substitution G A intron_variant LUSC-KR 12 41933735 41933735 single base substitution G T intron_variant LUSC-KR 12 41933822 41933822 single base substitution A C intron_variant LUSC-KR 12 41935114 41935114 single base substitution G T intron_variant LUSC-KR 12 41935715 41935715 single base substitution C T intron_variant LUSC-KR 12 41936841 41936841 single base substitution T A intron_variant LUSC-KR 12 41938694 41938694 single base substitution C T intron_variant LUSC-KR 12 41938792 41938792 single base substitution G T intron_variant LUSC-KR 12 41940618 41940618 single base substitution C A intron_variant LUSC-KR 12 41941917 41941917 single base substitution A T intron_variant LUSC-KR 12 41942390 41942390 single base substitution C A intron_variant LUSC-KR 12 41942756 41942756 single base substitution T C intron_variant LUSC-KR 12 41945000 41945000 single base substitution C A intron_variant LUSC-KR 12 41945302 41945302 single base substitution T A intron_variant LUSC-KR 12 41945303 41945303 single base substitution G T intron_variant LUSC-KR 12 41945400 41945400 single base substitution G A intron_variant LUSC-KR 12 41946142 41946142 single base substitution G T intron_variant LUSC-KR 12 41946160 41946160 single base substitution G T intron_variant LUSC-KR 12 41947484 41947484 single base substitution G T intron_variant LUSC-KR 12 41948826 41948826 single base substitution C T intron_variant LUSC-KR 12 41948888 41948888 single base substitution C G intron_variant LUSC-KR 12 41950566 41950566 single base substitution T A intron_variant LUSC-KR 12 41952223 41952223 single base substitution C A intron_variant LUSC-KR 12 41953307 41953307 single base substitution A G intron_variant LUSC-KR 12 41954249 41954249 single base substitution C T intron_variant LUSC-KR 12 41957072 41957072 single base substitution G C intron_variant LUSC-KR 12 41959720 41959720 single base substitution A T intron_variant LUSC-KR 12 41960520 41960520 single base substitution A G intron_variant LUSC-KR 12 41964845 41964845 single base substitution C T intron_variant LUSC-KR 12 41965500 41965500 single base substitution A T intron_variant LUSC-KR 12 41965715 41965715 single base substitution T G intron_variant LUSC-KR 12 41966218 41966218 single base substitution C A exon_variant LUSC-KR 12 41966218 41966218 single base substitution C A missense_variant S286Y 857C>A LUSC-KR 12 41966218 41966218 single base substitution C A missense_variant S288Y 863C>A LUSC-KR 12 41966218 41966218 single base substitution C A missense_variant S546Y 1637C>A LUSC-KR 12 41966219 41966219 single base substitution C G exon_variant LUSC-KR 12 41966219 41966219 single base substitution C G synonymous_variant S286S 858C>G LUSC-KR 12 41966219 41966219 single base substitution C G synonymous_variant S288S 864C>G LUSC-KR 12 41966219 41966219 single base substitution C G synonymous_variant S546S 1638C>G LUSC-KR 12 41966655 41966655 single base substitution G T exon_variant LUSC-KR 12 41966655 41966655 single base substitution G T missense_variant V432L 1294G>T LUSC-KR 12 41966655 41966655 single base substitution G T missense_variant V434L 1300G>T LUSC-KR 12 41966655 41966655 single base substitution G T missense_variant V692L 2074G>T LUSC-KR 12 41966845 41966845 single base substitution C G exon_variant LUSC-KR 12 41966845 41966845 single base substitution C G missense_variant S495C 1484C>G LUSC-KR 12 41966845 41966845 single base substitution C G missense_variant S497C 1490C>G LUSC-KR 12 41966845 41966845 single base substitution C G missense_variant S755C 2264C>G LUSC-KR 12 41967482 41967482 single base substitution G C exon_variant LUSC-KR 12 41967482 41967482 single base substitution G C missense_variant R707S 2121G>C LUSC-KR 12 41967482 41967482 single base substitution G C missense_variant R709S 2127G>C LUSC-KR 12 41967482 41967482 single base substitution G C missense_variant R967S 2901G>C LUSC-KR 12 41967717 41967717 single base substitution T A 3_prime_UTR_variant LUSC-KR 12 41967717 41967717 single base substitution T A exon_variant LUSC-KR 12 41968449 41968449 single base substitution A G downstream_gene_variant LUSC-KR 12 41969185 41969185 single base substitution A T downstream_gene_variant LUSC-KR 12 41969289 41969289 single base substitution T C downstream_gene_variant LUSC-KR 12 41970889 41970889 single base substitution G T downstream_gene_variant LUSC-US 12 41587941 41587941 single base substitution G A missense_variant G265E 794G>A LUSC-US 12 41900384 41900384 single base substitution G T missense_variant A324S 970G>T LUSC-US 12 41900384 41900384 single base substitution G T missense_variant A64S 190G>T LUSC-US 12 41900384 41900384 single base substitution G T missense_variant A66S 196G>T LUSC-US 12 41900384 41900384 single base substitution G T upstream_gene_variant LUSC-US 12 41946553 41946553 single base substitution C A exon_variant LUSC-US 12 41946553 41946553 single base substitution C A missense_variant S173R 519C>A LUSC-US 12 41946553 41946553 single base substitution C A missense_variant S175R 525C>A LUSC-US 12 41946553 41946553 single base substitution C A missense_variant S433R 1299C>A LUSC-US 12 41966418 41966418 single base substitution G C exon_variant LUSC-US 12 41966418 41966418 single base substitution G C missense_variant D353H 1057G>C LUSC-US 12 41966418 41966418 single base substitution G C missense_variant D355H 1063G>C LUSC-US 12 41966418 41966418 single base substitution G C missense_variant D613H 1837G>C LUSC-US 12 41966513 41966513 single base substitution C T exon_variant LUSC-US 12 41966513 41966513 single base substitution C T synonymous_variant D384D 1152C>T LUSC-US 12 41966513 41966513 single base substitution C T synonymous_variant D386D 1158C>T LUSC-US 12 41966513 41966513 single base substitution C T synonymous_variant D644D 1932C>T LUSC-US 12 41966568 41966568 single base substitution G C exon_variant LUSC-US 12 41966568 41966568 single base substitution G C missense_variant E403Q 1207G>C LUSC-US 12 41966568 41966568 single base substitution G C missense_variant E405Q 1213G>C LUSC-US 12 41966568 41966568 single base substitution G C missense_variant E663Q 1987G>C LUSC-US 12 41966734 41966734 single base substitution G A exon_variant LUSC-US 12 41966734 41966734 single base substitution G A missense_variant R458K 1373G>A LUSC-US 12 41966734 41966734 single base substitution G A missense_variant R460K 1379G>A LUSC-US 12 41966734 41966734 single base substitution G A missense_variant R718K 2153G>A LUSC-US 12 41966841 41966841 single base substitution C G exon_variant LUSC-US 12 41966841 41966841 single base substitution C G missense_variant R494G 1480C>G LUSC-US 12 41966841 41966841 single base substitution C G missense_variant R496G 1486C>G LUSC-US 12 41966841 41966841 single base substitution C G missense_variant R754G 2260C>G LUSC-US 12 41966881 41966881 single base substitution C A exon_variant LUSC-US 12 41966881 41966881 single base substitution C A missense_variant T507N 1520C>A LUSC-US 12 41966881 41966881 single base substitution C A missense_variant T509N 1526C>A LUSC-US 12 41966881 41966881 single base substitution C A missense_variant T767N 2300C>A LUSC-US 12 41967075 41967075 single base substitution C T exon_variant LUSC-US 12 41967075 41967075 single base substitution C T missense_variant P572S 1714C>T LUSC-US 12 41967075 41967075 single base substitution C T missense_variant P574S 1720C>T LUSC-US 12 41967075 41967075 single base substitution C T missense_variant P832S 2494C>T LUSC-US 12 41967358 41967358 single base substitution C G exon_variant LUSC-US 12 41967358 41967358 single base substitution C G missense_variant T666S 1997C>G LUSC-US 12 41967358 41967358 single base substitution C G missense_variant T668S 2003C>G LUSC-US 12 41967358 41967358 single base substitution C G missense_variant T926S 2777C>G LUSC-US 12 41967593 41967593 deletion of <=200bp G - exon_variant LUSC-US 12 41967593 41967593 deletion of <=200bp G - frameshift_variant L1004 LUSC-US 12 41967593 41967593 deletion of <=200bp G - frameshift_variant L744 LUSC-US 12 41967593 41967593 deletion of <=200bp G - frameshift_variant L746 MALY-DE 12 41581876 41581876 single base substitution C A upstream_gene_variant MALY-DE 12 41583326 41583326 single base substitution C G intron_variant MALY-DE 12 41584524 41584524 single base substitution T A intron_variant MALY-DE 12 41588977 41588977 single base substitution C A intron_variant MALY-DE 12 41590800 41590800 single base substitution T G intron_variant MALY-DE 12 41590801 41590801 single base substitution T G intron_variant MALY-DE 12 41594415 41594415 single base substitution C G intron_variant MALY-DE 12 41597311 41597311 single base substitution T G intron_variant MALY-DE 12 41600959 41600959 single base substitution T C intron_variant MALY-DE 12 41602626 41602626 single base substitution T G intron_variant MALY-DE 12 41604159 41604159 single base substitution T C intron_variant MALY-DE 12 41604312 41604312 single base substitution A T intron_variant MALY-DE 12 41605650 41605650 single base substitution G A intron_variant MALY-DE 12 41605800 41605800 single base substitution T C intron_variant MALY-DE 12 41609156 41609156 single base substitution G A intron_variant MALY-DE 12 41609157 41609157 single base substitution C T intron_variant MALY-DE 12 41609454 41609454 single base substitution T G intron_variant MALY-DE 12 41610150 41610150 single base substitution A C intron_variant MALY-DE 12 41610160 41610160 single base substitution T C intron_variant MALY-DE 12 41610162 41610162 single base substitution T A intron_variant MALY-DE 12 41610744 41610744 single base substitution C A intron_variant MALY-DE 12 41615409 41615409 single base substitution A G intron_variant MALY-DE 12 41615559 41615559 single base substitution T A intron_variant MALY-DE 12 41618414 41618414 single base substitution A G intron_variant MALY-DE 12 41618942 41618942 single base substitution T A intron_variant MALY-DE 12 41623694 41623694 single base substitution T A intron_variant MALY-DE 12 41624368 41624368 single base substitution A C intron_variant MALY-DE 12 41634558 41634558 single base substitution G A intron_variant MALY-DE 12 41635233 41635233 single base substitution A C intron_variant MALY-DE 12 41635274 41635274 single base substitution A T intron_variant MALY-DE 12 41636268 41636268 single base substitution C T intron_variant MALY-DE 12 41636431 41636432 deletion of <=200bp AC - intron_variant MALY-DE 12 41636517 41636517 single base substitution C A intron_variant MALY-DE 12 41638144 41638144 single base substitution G T intron_variant MALY-DE 12 41638673 41638678 deletion of <=200bp AGACGA - intron_variant MALY-DE 12 41640813 41640813 insertion of <=200bp - T intron_variant MALY-DE 12 41641066 41641066 single base substitution T C intron_variant MALY-DE 12 41642370 41642370 single base substitution C T intron_variant MALY-DE 12 41643770 41643770 single base substitution A T intron_variant MALY-DE 12 41643982 41643982 insertion of <=200bp - T intron_variant MALY-DE 12 41646252 41646252 single base substitution A C intron_variant MALY-DE 12 41646315 41646315 single base substitution C T intron_variant MALY-DE 12 41646973 41646973 single base substitution G A intron_variant MALY-DE 12 41647319 41647319 single base substitution G T intron_variant MALY-DE 12 41649048 41649048 single base substitution G A intron_variant MALY-DE 12 41650981 41650981 single base substitution T C intron_variant MALY-DE 12 41651166 41651166 single base substitution C T intron_variant MALY-DE 12 41652587 41652587 single base substitution A G intron_variant MALY-DE 12 41653425 41653425 single base substitution A C intron_variant MALY-DE 12 41662285 41662285 single base substitution A C intron_variant MALY-DE 12 41666070 41666070 single base substitution A C intron_variant MALY-DE 12 41666149 41666149 single base substitution G A intron_variant MALY-DE 12 41671308 41671308 single base substitution T G intron_variant MALY-DE 12 41671506 41671506 single base substitution A C intron_variant MALY-DE 12 41672033 41672033 single base substitution A C intron_variant MALY-DE 12 41672545 41672545 single base substitution C A intron_variant MALY-DE 12 41674160 41674160 single base substitution A C intron_variant MALY-DE 12 41674663 41674663 single base substitution T C intron_variant MALY-DE 12 41675807 41675807 single base substitution C G intron_variant MALY-DE 12 41677440 41677440 single base substitution G A intron_variant MALY-DE 12 41679295 41679303 deletion of <=200bp TCCCATTAC - intron_variant MALY-DE 12 41682432 41682432 single base substitution G C intron_variant MALY-DE 12 41683028 41683028 single base substitution A C intron_variant MALY-DE 12 41683277 41683277 single base substitution C T intron_variant MALY-DE 12 41683528 41683528 single base substitution C G intron_variant MALY-DE 12 41684655 41684655 single base substitution C T intron_variant MALY-DE 12 41684969 41684969 single base substitution A C intron_variant MALY-DE 12 41685124 41685124 single base substitution T G intron_variant MALY-DE 12 41687841 41687841 single base substitution A G intron_variant MALY-DE 12 41691777 41691777 single base substitution C T intron_variant MALY-DE 12 41691925 41691925 single base substitution T C intron_variant MALY-DE 12 41695160 41695160 single base substitution A T intron_variant MALY-DE 12 41699311 41699311 single base substitution A C intron_variant MALY-DE 12 41700667 41700667 single base substitution A C intron_variant MALY-DE 12 41705740 41705740 deletion of <=200bp T - intron_variant MALY-DE 12 41706171 41706171 single base substitution C T intron_variant MALY-DE 12 41708655 41708655 single base substitution T G intron_variant MALY-DE 12 41714013 41714013 single base substitution C G intron_variant MALY-DE 12 41722999 41722999 single base substitution C G intron_variant MALY-DE 12 41724357 41724357 single base substitution A C intron_variant MALY-DE 12 41726156 41726156 single base substitution T G intron_variant MALY-DE 12 41726304 41726304 single base substitution C T intron_variant MALY-DE 12 41727590 41727590 single base substitution C A intron_variant MALY-DE 12 41729589 41729589 single base substitution A T intron_variant MALY-DE 12 41729712 41729712 single base substitution A G intron_variant MALY-DE 12 41729857 41729857 single base substitution A T intron_variant MALY-DE 12 41731099 41731099 single base substitution T G intron_variant MALY-DE 12 41732450 41732450 single base substitution A C intron_variant MALY-DE 12 41734485 41734485 single base substitution A T intron_variant MALY-DE 12 41734968 41734968 deletion of <=200bp A - intron_variant MALY-DE 12 41736751 41736751 single base substitution A G intron_variant MALY-DE 12 41737017 41737017 insertion of <=200bp - T intron_variant MALY-DE 12 41739485 41739485 single base substitution G A intron_variant MALY-DE 12 41740354 41740354 single base substitution A C intron_variant MALY-DE 12 41742484 41742484 single base substitution G C intron_variant MALY-DE 12 41745004 41745004 single base substitution T C intron_variant MALY-DE 12 41747349 41747349 single base substitution T G intron_variant MALY-DE 12 41748266 41748266 single base substitution C A intron_variant MALY-DE 12 41748689 41748689 single base substitution G A intron_variant MALY-DE 12 41749293 41749293 single base substitution A T intron_variant MALY-DE 12 41750847 41750847 deletion of <=200bp T - intron_variant MALY-DE 12 41751071 41751071 single base substitution T G intron_variant MALY-DE 12 41752541 41752541 single base substitution A C intron_variant MALY-DE 12 41753005 41753005 single base substitution A C intron_variant MALY-DE 12 41754469 41754469 insertion of <=200bp - T intron_variant MALY-DE 12 41758007 41758007 insertion of <=200bp - T intron_variant MALY-DE 12 41759424 41759424 single base substitution C T intron_variant MALY-DE 12 41759977 41759977 single base substitution A G intron_variant MALY-DE 12 41759993 41759993 single base substitution G T intron_variant MALY-DE 12 41760321 41760321 single base substitution G A intron_variant MALY-DE 12 41760932 41760932 single base substitution T A intron_variant MALY-DE 12 41765863 41765863 single base substitution T C intron_variant MALY-DE 12 41765878 41765878 single base substitution A T intron_variant MALY-DE 12 41768783 41768783 single base substitution C T intron_variant MALY-DE 12 41771040 41771040 deletion of <=200bp T - intron_variant MALY-DE 12 41772560 41772560 single base substitution G T intron_variant MALY-DE 12 41772618 41772618 single base substitution C T intron_variant MALY-DE 12 41772962 41772962 single base substitution T A intron_variant MALY-DE 12 41774473 41774475 deletion of <=200bp TTA - intron_variant MALY-DE 12 41776308 41776308 single base substitution C G intron_variant MALY-DE 12 41777721 41777721 single base substitution T G intron_variant MALY-DE 12 41778925 41778925 single base substitution G T intron_variant MALY-DE 12 41779777 41779777 single base substitution G T intron_variant MALY-DE 12 41781171 41781171 single base substitution A C intron_variant MALY-DE 12 41781529 41781529 single base substitution C T intron_variant MALY-DE 12 41782582 41782582 single base substitution A G intron_variant MALY-DE 12 41782666 41782666 single base substitution T G intron_variant MALY-DE 12 41787474 41787474 single base substitution A C intron_variant MALY-DE 12 41788581 41788582 deletion of <=200bp GA - intron_variant MALY-DE 12 41794271 41794271 single base substitution T A intron_variant MALY-DE 12 41794933 41794933 single base substitution G T intron_variant MALY-DE 12 41794945 41794945 single base substitution G T intron_variant MALY-DE 12 41795589 41795589 deletion of <=200bp G - intron_variant MALY-DE 12 41798894 41798894 insertion of <=200bp - A intron_variant MALY-DE 12 41806127 41806127 deletion of <=200bp A - intron_variant MALY-DE 12 41808467 41808467 single base substitution A C intron_variant MALY-DE 12 41815722 41815722 single base substitution G A intron_variant MALY-DE 12 41817262 41817262 single base substitution G A intron_variant MALY-DE 12 41818466 41818466 single base substitution A C intron_variant MALY-DE 12 41819252 41819252 single base substitution G T intron_variant MALY-DE 12 41822663 41822663 single base substitution G A intron_variant MALY-DE 12 41823196 41823196 single base substitution G A intron_variant MALY-DE 12 41826206 41826206 single base substitution G A intron_variant MALY-DE 12 41827217 41827217 single base substitution T A intron_variant MALY-DE 12 41827217 41827217 single base substitution T A upstream_gene_variant MALY-DE 12 41827427 41827427 single base substitution C T intron_variant MALY-DE 12 41827427 41827427 single base substitution C T upstream_gene_variant MALY-DE 12 41829068 41829068 single base substitution A C intron_variant MALY-DE 12 41829068 41829068 single base substitution A C upstream_gene_variant MALY-DE 12 41832237 41832237 single base substitution A G intron_variant MALY-DE 12 41833291 41833291 single base substitution C T intron_variant MALY-DE 12 41837013 41837013 single base substitution T C intron_variant MALY-DE 12 41837081 41837081 single base substitution C A intron_variant MALY-DE 12 41837584 41837584 single base substitution A C intron_variant MALY-DE 12 41843672 41843672 single base substitution A G intron_variant MALY-DE 12 41844798 41844798 single base substitution A T intron_variant MALY-DE 12 41846020 41846020 single base substitution A G intron_variant MALY-DE 12 41846060 41846060 single base substitution T C intron_variant MALY-DE 12 41846652 41846652 single base substitution T G intron_variant MALY-DE 12 41846714 41846714 single base substitution T C intron_variant MALY-DE 12 41846905 41846905 single base substitution A G intron_variant MALY-DE 12 41851196 41851196 single base substitution C T intron_variant MALY-DE 12 41853103 41853103 single base substitution C T intron_variant MALY-DE 12 41853498 41853498 single base substitution T C intron_variant MALY-DE 12 41856478 41856478 single base substitution A C intron_variant MALY-DE 12 41859519 41859519 single base substitution C T intron_variant MALY-DE 12 41864992 41864992 single base substitution C G intron_variant MALY-DE 12 41868716 41868716 single base substitution A G intron_variant MALY-DE 12 41878574 41878574 single base substitution A C intron_variant MALY-DE 12 41882712 41882712 single base substitution A G intron_variant MALY-DE 12 41883959 41883959 single base substitution T C intron_variant MALY-DE 12 41886718 41886718 single base substitution T G intron_variant MALY-DE 12 41887693 41887693 deletion of <=200bp A - intron_variant MALY-DE 12 41888390 41888390 insertion of <=200bp - T intron_variant MALY-DE 12 41890882 41890882 single base substitution C T intron_variant MALY-DE 12 41891027 41891027 single base substitution C T intron_variant MALY-DE 12 41893727 41893727 single base substitution G A intron_variant MALY-DE 12 41896334 41896334 single base substitution C T intron_variant MALY-DE 12 41897154 41897154 single base substitution T C intron_variant MALY-DE 12 41897677 41897677 insertion of <=200bp - A intron_variant MALY-DE 12 41898260 41898260 single base substitution A C intron_variant MALY-DE 12 41899281 41899281 single base substitution T G intron_variant MALY-DE 12 41899281 41899281 single base substitution T G upstream_gene_variant MALY-DE 12 41901473 41901473 single base substitution T C intron_variant MALY-DE 12 41901473 41901473 single base substitution T C upstream_gene_variant MALY-DE 12 41902121 41902121 single base substitution A C intron_variant MALY-DE 12 41902121 41902121 single base substitution A C upstream_gene_variant MALY-DE 12 41903266 41903266 single base substitution A C intron_variant MALY-DE 12 41903266 41903266 single base substitution A C upstream_gene_variant MALY-DE 12 41905026 41905026 single base substitution A G intron_variant MALY-DE 12 41905253 41905253 single base substitution A C intron_variant MALY-DE 12 41905713 41905713 single base substitution A C intron_variant MALY-DE 12 41906561 41906561 single base substitution G A intron_variant MALY-DE 12 41907843 41907843 single base substitution G A intron_variant MALY-DE 12 41907910 41907910 single base substitution C G intron_variant MALY-DE 12 41910162 41910162 single base substitution G A intron_variant MALY-DE 12 41911058 41911058 single base substitution G A intron_variant MALY-DE 12 41916110 41916111 deletion of <=200bp TC - intron_variant MALY-DE 12 41922026 41922026 single base substitution T C intron_variant MALY-DE 12 41926094 41926094 single base substitution G T intron_variant MALY-DE 12 41926428 41926428 single base substitution G A intron_variant MALY-DE 12 41929624 41929624 single base substitution G A intron_variant MALY-DE 12 41932901 41932901 single base substitution A G intron_variant MALY-DE 12 41933069 41933069 insertion of <=200bp - T intron_variant MALY-DE 12 41934900 41934900 single base substitution C A intron_variant MALY-DE 12 41935687 41935687 single base substitution T G intron_variant MALY-DE 12 41936618 41936618 insertion of <=200bp - T intron_variant MALY-DE 12 41940343 41940343 single base substitution C A intron_variant MALY-DE 12 41943094 41943094 single base substitution A T intron_variant MALY-DE 12 41943836 41943836 single base substitution G A intron_variant MALY-DE 12 41945977 41945977 single base substitution T G intron_variant MALY-DE 12 41948612 41948612 single base substitution C T intron_variant MALY-DE 12 41950094 41950094 single base substitution T C intron_variant MALY-DE 12 41952646 41952646 single base substitution G C intron_variant MALY-DE 12 41952871 41952871 single base substitution A G intron_variant MALY-DE 12 41953690 41953690 single base substitution T C intron_variant MALY-DE 12 41953910 41953910 single base substitution T C intron_variant MALY-DE 12 41955412 41955412 insertion of <=200bp - TA intron_variant MALY-DE 12 41956673 41956673 single base substitution T A intron_variant MALY-DE 12 41956676 41956676 single base substitution A T intron_variant MALY-DE 12 41964497 41964497 single base substitution A T intron_variant MALY-DE 12 41964819 41964819 single base substitution A T intron_variant MALY-DE 12 41971539 41971539 single base substitution G A downstream_gene_variant MALY-DE 12 41972097 41972097 deletion of <=200bp T - downstream_gene_variant MALY-DE 12 41972471 41972471 single base substitution T C downstream_gene_variant MELA-AU 12 41577332 41577332 single base substitution G A upstream_gene_variant MELA-AU 12 41577406 41577406 single base substitution G A upstream_gene_variant MELA-AU 12 41577589 41577589 single base substitution C T upstream_gene_variant MELA-AU 12 41578080 41578080 single base substitution A T upstream_gene_variant MELA-AU 12 41579082 41579082 single base substitution C T upstream_gene_variant MELA-AU 12 41579204 41579204 single base substitution G A upstream_gene_variant MELA-AU 12 41579493 41579493 single base substitution G A upstream_gene_variant MELA-AU 12 41579922 41579922 single base substitution C T upstream_gene_variant MELA-AU 12 41580353 41580353 single base substitution T A upstream_gene_variant MELA-AU 12 41580569 41580569 single base substitution C T upstream_gene_variant MELA-AU 12 41580640 41580640 single base substitution C T upstream_gene_variant MELA-AU 12 41580667 41580667 single base substitution G A upstream_gene_variant MELA-AU 12 41580675 41580675 single base substitution G A upstream_gene_variant MELA-AU 12 41580682 41580682 single base substitution G C upstream_gene_variant MELA-AU 12 41580761 41580761 single base substitution T C upstream_gene_variant MELA-AU 12 41581141 41581141 single base substitution C T upstream_gene_variant MELA-AU 12 41581156 41581156 single base substitution G A upstream_gene_variant MELA-AU 12 41581409 41581410 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 12 41581585 41581585 single base substitution C T upstream_gene_variant MELA-AU 12 41582068 41582068 single base substitution G A upstream_gene_variant MELA-AU 12 41582247 41582247 single base substitution C T upstream_gene_variant MELA-AU 12 41584244 41584244 deletion of <=200bp C - intron_variant MELA-AU 12 41584547 41584547 single base substitution T G intron_variant MELA-AU 12 41584562 41584562 single base substitution C T intron_variant MELA-AU 12 41584691 41584691 single base substitution T C intron_variant MELA-AU 12 41584707 41584707 single base substitution G A intron_variant MELA-AU 12 41584836 41584836 single base substitution C T intron_variant MELA-AU 12 41585295 41585295 single base substitution A T missense_variant E228D 684A>T MELA-AU 12 41585695 41585695 single base substitution C T intron_variant MELA-AU 12 41585920 41585920 single base substitution C T intron_variant MELA-AU 12 41586366 41586366 single base substitution C T intron_variant MELA-AU 12 41586723 41586723 single base substitution G A intron_variant MELA-AU 12 41587010 41587010 single base substitution G A intron_variant MELA-AU 12 41587077 41587077 single base substitution C T intron_variant MELA-AU 12 41587086 41587086 single base substitution C T intron_variant MELA-AU 12 41587321 41587321 single base substitution C T intron_variant MELA-AU 12 41587406 41587406 single base substitution G A intron_variant MELA-AU 12 41587764 41587764 single base substitution C T intron_variant MELA-AU 12 41587911 41587911 single base substitution G A missense_variant G255E 764G>A MELA-AU 12 41588038 41588038 single base substitution G A intron_variant MELA-AU 12 41588234 41588234 single base substitution C T intron_variant MELA-AU 12 41588335 41588335 single base substitution C T intron_variant MELA-AU 12 41588362 41588362 single base substitution G A intron_variant MELA-AU 12 41588487 41588487 single base substitution C T intron_variant MELA-AU 12 41588500 41588500 single base substitution G A intron_variant MELA-AU 12 41588520 41588520 single base substitution G A intron_variant MELA-AU 12 41588575 41588575 single base substitution G A intron_variant MELA-AU 12 41588824 41588824 single base substitution C T intron_variant MELA-AU 12 41588844 41588844 single base substitution G A intron_variant MELA-AU 12 41588935 41588935 single base substitution G A intron_variant MELA-AU 12 41589860 41589860 single base substitution G A intron_variant MELA-AU 12 41590177 41590177 single base substitution C A intron_variant MELA-AU 12 41590279 41590279 single base substitution T G intron_variant MELA-AU 12 41590359 41590359 single base substitution C T intron_variant MELA-AU 12 41590626 41590626 single base substitution G A intron_variant MELA-AU 12 41591278 41591278 single base substitution A C intron_variant MELA-AU 12 41591303 41591303 single base substitution C T intron_variant MELA-AU 12 41591533 41591533 single base substitution C T intron_variant MELA-AU 12 41591579 41591579 single base substitution C T intron_variant MELA-AU 12 41591629 41591629 single base substitution G A intron_variant MELA-AU 12 41591859 41591859 single base substitution G A intron_variant MELA-AU 12 41592178 41592178 single base substitution G A intron_variant MELA-AU 12 41592859 41592859 single base substitution G A intron_variant MELA-AU 12 41593187 41593187 single base substitution G A intron_variant MELA-AU 12 41593477 41593477 single base substitution C G intron_variant MELA-AU 12 41593670 41593670 single base substitution G A intron_variant MELA-AU 12 41594022 41594022 single base substitution G A intron_variant MELA-AU 12 41594236 41594236 single base substitution A T intron_variant MELA-AU 12 41594330 41594330 single base substitution G A intron_variant MELA-AU 12 41594480 41594480 single base substitution C T intron_variant MELA-AU 12 41594788 41594788 single base substitution C T intron_variant MELA-AU 12 41594796 41594796 single base substitution C T intron_variant MELA-AU 12 41594829 41594829 single base substitution C T intron_variant MELA-AU 12 41594880 41594880 single base substitution A G intron_variant MELA-AU 12 41594922 41594922 single base substitution C T intron_variant MELA-AU 12 41594950 41594950 single base substitution C T intron_variant MELA-AU 12 41594997 41594997 single base substitution C T intron_variant MELA-AU 12 41595010 41595010 single base substitution C T intron_variant MELA-AU 12 41595557 41595557 single base substitution G A intron_variant MELA-AU 12 41595751 41595751 single base substitution C T intron_variant MELA-AU 12 41595902 41595902 single base substitution G A intron_variant MELA-AU 12 41596127 41596127 single base substitution G A intron_variant MELA-AU 12 41596375 41596375 single base substitution T A intron_variant MELA-AU 12 41596499 41596499 single base substitution G A intron_variant MELA-AU 12 41596796 41596796 single base substitution G A intron_variant MELA-AU 12 41596801 41596801 single base substitution C T intron_variant MELA-AU 12 41596941 41596941 single base substitution G A intron_variant MELA-AU 12 41597143 41597143 single base substitution G A intron_variant MELA-AU 12 41597231 41597231 single base substitution G A intron_variant MELA-AU 12 41597294 41597294 single base substitution C T intron_variant MELA-AU 12 41597435 41597435 single base substitution T A intron_variant MELA-AU 12 41597513 41597513 single base substitution C T intron_variant MELA-AU 12 41597843 41597843 single base substitution G A intron_variant MELA-AU 12 41597897 41597897 single base substitution C T intron_variant MELA-AU 12 41597994 41597994 single base substitution C T intron_variant MELA-AU 12 41598082 41598082 single base substitution T C intron_variant MELA-AU 12 41598166 41598166 single base substitution C T intron_variant MELA-AU 12 41598223 41598223 single base substitution G A intron_variant MELA-AU 12 41598589 41598590 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41599229 41599229 single base substitution C T intron_variant MELA-AU 12 41599272 41599272 single base substitution C T intron_variant MELA-AU 12 41599644 41599644 single base substitution G A intron_variant MELA-AU 12 41599670 41599670 single base substitution C T intron_variant MELA-AU 12 41599712 41599712 single base substitution C T intron_variant MELA-AU 12 41600342 41600342 single base substitution A T intron_variant MELA-AU 12 41600370 41600370 single base substitution G A intron_variant MELA-AU 12 41600394 41600394 single base substitution C T intron_variant MELA-AU 12 41600650 41600650 single base substitution C T intron_variant MELA-AU 12 41600919 41600919 single base substitution C T intron_variant MELA-AU 12 41602029 41602029 single base substitution A G intron_variant MELA-AU 12 41602031 41602032 multiple base substitution (>=2bp and <=200bp) GT TA intron_variant MELA-AU 12 41602198 41602198 single base substitution C T intron_variant MELA-AU 12 41602624 41602624 single base substitution C T intron_variant MELA-AU 12 41602962 41602962 single base substitution C T intron_variant MELA-AU 12 41603680 41603680 single base substitution G A intron_variant MELA-AU 12 41604228 41604228 single base substitution A G intron_variant MELA-AU 12 41604244 41604244 single base substitution A G intron_variant MELA-AU 12 41604638 41604638 single base substitution C T intron_variant MELA-AU 12 41605010 41605010 single base substitution C T intron_variant MELA-AU 12 41605027 41605027 single base substitution G A intron_variant MELA-AU 12 41605068 41605068 single base substitution G A intron_variant MELA-AU 12 41605372 41605372 single base substitution G A intron_variant MELA-AU 12 41605473 41605473 single base substitution A T intron_variant MELA-AU 12 41605550 41605550 single base substitution C T intron_variant MELA-AU 12 41605728 41605728 single base substitution C T intron_variant MELA-AU 12 41605855 41605855 single base substitution G A intron_variant MELA-AU 12 41606233 41606233 single base substitution G A intron_variant MELA-AU 12 41606278 41606278 single base substitution G A intron_variant MELA-AU 12 41606438 41606438 single base substitution G A intron_variant MELA-AU 12 41606525 41606525 single base substitution G A intron_variant MELA-AU 12 41606638 41606638 single base substitution G A intron_variant MELA-AU 12 41606929 41606929 single base substitution A T intron_variant MELA-AU 12 41606942 41606942 single base substitution T C intron_variant MELA-AU 12 41606954 41606954 single base substitution G A intron_variant MELA-AU 12 41607126 41607126 single base substitution G A intron_variant MELA-AU 12 41607155 41607155 single base substitution C T intron_variant MELA-AU 12 41607443 41607443 single base substitution G A intron_variant MELA-AU 12 41607507 41607507 single base substitution G A intron_variant MELA-AU 12 41607980 41607980 single base substitution G A intron_variant MELA-AU 12 41608265 41608265 single base substitution G A intron_variant MELA-AU 12 41608383 41608383 single base substitution G A intron_variant MELA-AU 12 41608605 41608613 deletion of <=200bp AATAATAAA - intron_variant MELA-AU 12 41608703 41608703 single base substitution G A intron_variant MELA-AU 12 41609379 41609379 single base substitution C T intron_variant MELA-AU 12 41610063 41610063 single base substitution A T intron_variant MELA-AU 12 41610201 41610201 single base substitution G A intron_variant MELA-AU 12 41610378 41610378 single base substitution G A intron_variant MELA-AU 12 41610599 41610599 single base substitution G A intron_variant MELA-AU 12 41610672 41610672 single base substitution C T intron_variant MELA-AU 12 41611101 41611101 single base substitution C A intron_variant MELA-AU 12 41611331 41611331 single base substitution C T intron_variant MELA-AU 12 41611466 41611466 single base substitution A T intron_variant MELA-AU 12 41611482 41611482 single base substitution C T intron_variant MELA-AU 12 41611635 41611635 single base substitution C T intron_variant MELA-AU 12 41611708 41611708 single base substitution A G intron_variant MELA-AU 12 41611998 41611998 single base substitution C T intron_variant MELA-AU 12 41612488 41612488 single base substitution C T intron_variant MELA-AU 12 41612551 41612551 single base substitution C T intron_variant MELA-AU 12 41612752 41612752 single base substitution G A intron_variant MELA-AU 12 41612844 41612844 single base substitution G A intron_variant MELA-AU 12 41613084 41613084 single base substitution G A intron_variant MELA-AU 12 41613509 41613509 single base substitution A G intron_variant MELA-AU 12 41613591 41613591 single base substitution G C intron_variant MELA-AU 12 41614209 41614209 single base substitution G A intron_variant MELA-AU 12 41614238 41614238 single base substitution G A intron_variant MELA-AU 12 41614285 41614285 single base substitution G A intron_variant MELA-AU 12 41614534 41614534 single base substitution G A intron_variant MELA-AU 12 41614608 41614608 single base substitution C T intron_variant MELA-AU 12 41614623 41614623 single base substitution A T intron_variant MELA-AU 12 41614739 41614739 single base substitution G A intron_variant MELA-AU 12 41614833 41614833 single base substitution G A intron_variant MELA-AU 12 41615286 41615286 single base substitution G A intron_variant MELA-AU 12 41615362 41615362 single base substitution G A intron_variant MELA-AU 12 41615363 41615363 single base substitution G A intron_variant MELA-AU 12 41615743 41615743 single base substitution A G intron_variant MELA-AU 12 41615818 41615818 single base substitution G A intron_variant MELA-AU 12 41615854 41615854 single base substitution C T intron_variant MELA-AU 12 41616016 41616016 single base substitution T A intron_variant MELA-AU 12 41616118 41616118 single base substitution G A intron_variant MELA-AU 12 41616361 41616361 single base substitution C T intron_variant MELA-AU 12 41616369 41616369 single base substitution G A intron_variant MELA-AU 12 41616486 41616486 single base substitution C T intron_variant MELA-AU 12 41616848 41616848 single base substitution T A intron_variant MELA-AU 12 41616956 41616956 single base substitution C T intron_variant MELA-AU 12 41617192 41617192 single base substitution C T intron_variant MELA-AU 12 41617572 41617572 single base substitution G A intron_variant MELA-AU 12 41617620 41617620 single base substitution C T intron_variant MELA-AU 12 41617821 41617821 single base substitution G A intron_variant MELA-AU 12 41618099 41618099 single base substitution C T intron_variant MELA-AU 12 41618272 41618272 single base substitution C T intron_variant MELA-AU 12 41618505 41618505 single base substitution C T intron_variant MELA-AU 12 41618753 41618753 single base substitution C T intron_variant MELA-AU 12 41619115 41619115 single base substitution G A intron_variant MELA-AU 12 41619470 41619470 single base substitution T G intron_variant MELA-AU 12 41619603 41619603 deletion of <=200bp T - intron_variant MELA-AU 12 41619765 41619765 single base substitution C T intron_variant MELA-AU 12 41619890 41619890 single base substitution T C intron_variant MELA-AU 12 41620097 41620097 single base substitution C T intron_variant MELA-AU 12 41620113 41620113 single base substitution C T intron_variant MELA-AU 12 41620426 41620426 single base substitution G A intron_variant MELA-AU 12 41621458 41621459 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41622824 41622824 single base substitution C T intron_variant MELA-AU 12 41622995 41622995 single base substitution A G intron_variant MELA-AU 12 41623010 41623010 single base substitution A T intron_variant MELA-AU 12 41623961 41623961 single base substitution C T intron_variant MELA-AU 12 41625766 41625766 single base substitution G A intron_variant MELA-AU 12 41626199 41626199 single base substitution C T intron_variant MELA-AU 12 41626200 41626200 single base substitution C T intron_variant MELA-AU 12 41626376 41626376 single base substitution C T intron_variant MELA-AU 12 41626408 41626408 single base substitution C T intron_variant MELA-AU 12 41626646 41626646 single base substitution C T intron_variant MELA-AU 12 41626930 41626930 single base substitution G A intron_variant MELA-AU 12 41627044 41627044 single base substitution C T intron_variant MELA-AU 12 41627194 41627194 single base substitution G A intron_variant MELA-AU 12 41627374 41627374 single base substitution A G intron_variant MELA-AU 12 41627514 41627514 single base substitution C T intron_variant MELA-AU 12 41628003 41628003 single base substitution T C intron_variant MELA-AU 12 41628019 41628019 single base substitution G A intron_variant MELA-AU 12 41628034 41628034 single base substitution C T intron_variant MELA-AU 12 41628269 41628269 single base substitution C T intron_variant MELA-AU 12 41629119 41629119 single base substitution G A intron_variant MELA-AU 12 41630214 41630214 single base substitution G A intron_variant MELA-AU 12 41630549 41630549 single base substitution T C intron_variant MELA-AU 12 41630724 41630724 single base substitution G A intron_variant MELA-AU 12 41630759 41630759 single base substitution C T intron_variant MELA-AU 12 41630996 41630996 single base substitution G A intron_variant MELA-AU 12 41631141 41631141 single base substitution G A intron_variant MELA-AU 12 41631503 41631503 single base substitution C T intron_variant MELA-AU 12 41631536 41631536 single base substitution C T intron_variant MELA-AU 12 41631869 41631869 single base substitution G A intron_variant MELA-AU 12 41632146 41632146 single base substitution A T intron_variant MELA-AU 12 41632343 41632343 single base substitution A C intron_variant MELA-AU 12 41632457 41632457 single base substitution C T intron_variant MELA-AU 12 41632630 41632630 single base substitution T C intron_variant MELA-AU 12 41632711 41632711 single base substitution C T intron_variant MELA-AU 12 41632880 41632880 single base substitution G A intron_variant MELA-AU 12 41633066 41633066 single base substitution G A intron_variant MELA-AU 12 41633150 41633150 single base substitution G A intron_variant MELA-AU 12 41633325 41633325 single base substitution C T intron_variant MELA-AU 12 41633488 41633488 single base substitution C T intron_variant MELA-AU 12 41633548 41633548 single base substitution T G intron_variant MELA-AU 12 41633559 41633559 single base substitution C T intron_variant MELA-AU 12 41633742 41633742 single base substitution C T intron_variant MELA-AU 12 41634118 41634118 single base substitution C T intron_variant MELA-AU 12 41634551 41634552 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41634672 41634673 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 12 41634707 41634707 single base substitution G A intron_variant MELA-AU 12 41634838 41634838 single base substitution A G intron_variant MELA-AU 12 41634861 41634861 single base substitution C T intron_variant MELA-AU 12 41635049 41635049 single base substitution T C intron_variant MELA-AU 12 41635238 41635238 single base substitution C T intron_variant MELA-AU 12 41635482 41635482 single base substitution C T intron_variant MELA-AU 12 41635595 41635595 single base substitution G A intron_variant MELA-AU 12 41635917 41635917 single base substitution C T intron_variant MELA-AU 12 41636121 41636121 single base substitution G A intron_variant MELA-AU 12 41636307 41636307 single base substitution C A intron_variant MELA-AU 12 41636459 41636459 single base substitution T C intron_variant MELA-AU 12 41636612 41636612 single base substitution C T intron_variant MELA-AU 12 41636613 41636613 single base substitution C T intron_variant MELA-AU 12 41636804 41636804 single base substitution C T intron_variant MELA-AU 12 41636873 41636873 single base substitution C T intron_variant MELA-AU 12 41636925 41636925 single base substitution C T intron_variant MELA-AU 12 41637096 41637097 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 12 41637166 41637166 single base substitution A G intron_variant MELA-AU 12 41637206 41637206 single base substitution A G intron_variant MELA-AU 12 41637783 41637783 single base substitution C T intron_variant MELA-AU 12 41637942 41637942 single base substitution C T intron_variant MELA-AU 12 41638015 41638015 single base substitution G A intron_variant MELA-AU 12 41638056 41638056 single base substitution C T intron_variant MELA-AU 12 41638271 41638271 single base substitution C T intron_variant MELA-AU 12 41638291 41638291 single base substitution G A intron_variant MELA-AU 12 41638453 41638453 single base substitution C T intron_variant MELA-AU 12 41638683 41638683 single base substitution G A intron_variant MELA-AU 12 41638705 41638705 single base substitution G A intron_variant MELA-AU 12 41638745 41638745 single base substitution G A intron_variant MELA-AU 12 41638817 41638817 single base substitution C T intron_variant MELA-AU 12 41638851 41638851 single base substitution G T intron_variant MELA-AU 12 41638963 41638963 single base substitution C T intron_variant MELA-AU 12 41638999 41638999 single base substitution C T intron_variant MELA-AU 12 41639118 41639118 single base substitution G A intron_variant MELA-AU 12 41639366 41639366 single base substitution G A intron_variant MELA-AU 12 41639710 41639710 single base substitution C T intron_variant MELA-AU 12 41639761 41639761 single base substitution G A intron_variant MELA-AU 12 41639845 41639845 single base substitution G A intron_variant MELA-AU 12 41639848 41639848 single base substitution G A intron_variant MELA-AU 12 41640039 41640039 single base substitution G A intron_variant MELA-AU 12 41640116 41640116 single base substitution C G intron_variant MELA-AU 12 41640154 41640154 single base substitution C T intron_variant MELA-AU 12 41640229 41640229 single base substitution G A intron_variant MELA-AU 12 41640232 41640232 single base substitution G A intron_variant MELA-AU 12 41640619 41640619 single base substitution G A intron_variant MELA-AU 12 41640779 41640779 single base substitution G A intron_variant MELA-AU 12 41640811 41640811 single base substitution C T intron_variant MELA-AU 12 41641335 41641335 single base substitution C T intron_variant MELA-AU 12 41641740 41641740 single base substitution G A intron_variant MELA-AU 12 41641809 41641809 single base substitution G A intron_variant MELA-AU 12 41641815 41641815 single base substitution G A intron_variant MELA-AU 12 41641875 41641875 single base substitution C T intron_variant MELA-AU 12 41642006 41642006 single base substitution C T intron_variant MELA-AU 12 41642135 41642136 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 12 41642388 41642388 single base substitution C T intron_variant MELA-AU 12 41642767 41642767 single base substitution G A intron_variant MELA-AU 12 41643147 41643147 single base substitution C T intron_variant MELA-AU 12 41643465 41643465 single base substitution G A intron_variant MELA-AU 12 41643782 41643782 single base substitution C T intron_variant MELA-AU 12 41644017 41644017 single base substitution C T intron_variant MELA-AU 12 41644874 41644874 single base substitution C A intron_variant MELA-AU 12 41645193 41645193 single base substitution C T intron_variant MELA-AU 12 41645208 41645208 single base substitution C T intron_variant MELA-AU 12 41645500 41645500 single base substitution C T intron_variant MELA-AU 12 41645704 41645704 single base substitution G A intron_variant MELA-AU 12 41645892 41645892 single base substitution C T intron_variant MELA-AU 12 41645907 41645907 single base substitution G A intron_variant MELA-AU 12 41646469 41646469 single base substitution G A intron_variant MELA-AU 12 41646639 41646639 single base substitution G A intron_variant MELA-AU 12 41646945 41646945 single base substitution C T intron_variant MELA-AU 12 41646992 41646992 single base substitution A G intron_variant MELA-AU 12 41647049 41647049 single base substitution C A intron_variant MELA-AU 12 41647386 41647386 single base substitution T C intron_variant MELA-AU 12 41647788 41647788 single base substitution G A intron_variant MELA-AU 12 41647834 41647834 single base substitution T C intron_variant MELA-AU 12 41648007 41648007 single base substitution T C intron_variant MELA-AU 12 41648186 41648186 single base substitution A T intron_variant MELA-AU 12 41648545 41648545 single base substitution A G intron_variant MELA-AU 12 41648625 41648625 single base substitution A G intron_variant MELA-AU 12 41648652 41648652 single base substitution G A intron_variant MELA-AU 12 41648888 41648888 single base substitution G A intron_variant MELA-AU 12 41648932 41648932 single base substitution A T intron_variant MELA-AU 12 41649026 41649026 single base substitution G A intron_variant MELA-AU 12 41649060 41649060 single base substitution C T intron_variant MELA-AU 12 41649132 41649132 single base substitution C T intron_variant MELA-AU 12 41649191 41649191 single base substitution C T intron_variant MELA-AU 12 41649606 41649606 single base substitution G A intron_variant MELA-AU 12 41649616 41649616 single base substitution G A intron_variant MELA-AU 12 41650018 41650018 single base substitution G A intron_variant MELA-AU 12 41650238 41650238 single base substitution G A intron_variant MELA-AU 12 41650305 41650305 single base substitution C T intron_variant MELA-AU 12 41650314 41650314 single base substitution A C intron_variant MELA-AU 12 41650333 41650333 single base substitution C T intron_variant MELA-AU 12 41650344 41650344 single base substitution C T intron_variant MELA-AU 12 41650363 41650363 single base substitution G A intron_variant MELA-AU 12 41650553 41650553 single base substitution C T intron_variant MELA-AU 12 41650946 41650946 single base substitution C T intron_variant MELA-AU 12 41650959 41650959 single base substitution G A intron_variant MELA-AU 12 41651043 41651043 single base substitution C T intron_variant MELA-AU 12 41651182 41651182 single base substitution G A intron_variant MELA-AU 12 41651247 41651247 single base substitution G A intron_variant MELA-AU 12 41651264 41651264 single base substitution G A intron_variant MELA-AU 12 41651578 41651578 single base substitution G A intron_variant MELA-AU 12 41651684 41651684 single base substitution A T intron_variant MELA-AU 12 41651775 41651775 single base substitution T C intron_variant MELA-AU 12 41651787 41651787 single base substitution T A intron_variant MELA-AU 12 41651834 41651834 single base substitution G A intron_variant MELA-AU 12 41652058 41652058 single base substitution G A intron_variant MELA-AU 12 41652146 41652146 single base substitution G A intron_variant MELA-AU 12 41652460 41652461 multiple base substitution (>=2bp and <=200bp) TG CT intron_variant MELA-AU 12 41652636 41652636 single base substitution G A intron_variant MELA-AU 12 41652704 41652704 single base substitution T A intron_variant MELA-AU 12 41652899 41652899 single base substitution T G intron_variant MELA-AU 12 41652952 41652952 single base substitution A C intron_variant MELA-AU 12 41653145 41653145 single base substitution C T intron_variant MELA-AU 12 41653426 41653426 single base substitution A G intron_variant MELA-AU 12 41653489 41653489 single base substitution A G intron_variant MELA-AU 12 41653892 41653892 single base substitution C T intron_variant MELA-AU 12 41654068 41654068 single base substitution C T intron_variant MELA-AU 12 41654098 41654098 single base substitution C T intron_variant MELA-AU 12 41654099 41654099 single base substitution C T intron_variant MELA-AU 12 41654273 41654273 single base substitution A G intron_variant MELA-AU 12 41654434 41654434 single base substitution G A intron_variant MELA-AU 12 41654915 41654915 single base substitution C T intron_variant MELA-AU 12 41655026 41655026 single base substitution C T intron_variant MELA-AU 12 41655145 41655145 single base substitution C T intron_variant MELA-AU 12 41655479 41655479 single base substitution G A intron_variant MELA-AU 12 41655489 41655489 single base substitution C T intron_variant MELA-AU 12 41655884 41655884 single base substitution C T intron_variant MELA-AU 12 41655965 41655965 single base substitution G A intron_variant MELA-AU 12 41656204 41656204 single base substitution C T intron_variant MELA-AU 12 41656388 41656388 single base substitution C T intron_variant MELA-AU 12 41656477 41656477 single base substitution G A intron_variant MELA-AU 12 41656583 41656583 single base substitution C T intron_variant MELA-AU 12 41656890 41656890 single base substitution C T intron_variant MELA-AU 12 41657009 41657009 single base substitution G A intron_variant MELA-AU 12 41657549 41657549 single base substitution G A intron_variant MELA-AU 12 41657669 41657669 single base substitution C T intron_variant MELA-AU 12 41657680 41657680 single base substitution C T intron_variant MELA-AU 12 41657761 41657761 single base substitution C T intron_variant MELA-AU 12 41657776 41657776 single base substitution G A intron_variant MELA-AU 12 41658196 41658196 single base substitution C T intron_variant MELA-AU 12 41658549 41658549 single base substitution C T intron_variant MELA-AU 12 41659283 41659283 single base substitution G A intron_variant MELA-AU 12 41659585 41659585 single base substitution A T intron_variant MELA-AU 12 41659631 41659631 single base substitution A G intron_variant MELA-AU 12 41659728 41659728 single base substitution G A intron_variant MELA-AU 12 41660558 41660558 single base substitution A T intron_variant MELA-AU 12 41661071 41661071 single base substitution C T intron_variant MELA-AU 12 41661297 41661297 single base substitution C T intron_variant MELA-AU 12 41661422 41661422 single base substitution G A intron_variant MELA-AU 12 41661721 41661721 single base substitution G A intron_variant MELA-AU 12 41661859 41661859 single base substitution C T intron_variant MELA-AU 12 41661942 41661942 single base substitution C T intron_variant MELA-AU 12 41662069 41662070 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41662177 41662177 single base substitution A T intron_variant MELA-AU 12 41662287 41662287 single base substitution G A intron_variant MELA-AU 12 41662371 41662371 single base substitution G A intron_variant MELA-AU 12 41662498 41662498 single base substitution C T intron_variant MELA-AU 12 41663403 41663403 single base substitution C T intron_variant MELA-AU 12 41663712 41663712 single base substitution G A intron_variant MELA-AU 12 41663844 41663844 single base substitution A G intron_variant MELA-AU 12 41664040 41664040 single base substitution G A intron_variant MELA-AU 12 41664086 41664086 single base substitution G C intron_variant MELA-AU 12 41664398 41664398 single base substitution C T intron_variant MELA-AU 12 41664661 41664661 single base substitution G A intron_variant MELA-AU 12 41665215 41665215 single base substitution A G intron_variant MELA-AU 12 41665237 41665237 single base substitution G A intron_variant MELA-AU 12 41665855 41665855 single base substitution T C intron_variant MELA-AU 12 41666147 41666147 single base substitution C T intron_variant MELA-AU 12 41666176 41666176 single base substitution G A intron_variant MELA-AU 12 41666473 41666473 single base substitution C T intron_variant MELA-AU 12 41666487 41666487 single base substitution A T intron_variant MELA-AU 12 41666607 41666607 single base substitution C T intron_variant MELA-AU 12 41666620 41666620 single base substitution G A intron_variant MELA-AU 12 41667185 41667185 single base substitution C T intron_variant MELA-AU 12 41667270 41667270 single base substitution G A intron_variant MELA-AU 12 41667512 41667512 single base substitution G A intron_variant MELA-AU 12 41668206 41668206 single base substitution G A intron_variant MELA-AU 12 41668301 41668301 single base substitution G A intron_variant MELA-AU 12 41668420 41668420 single base substitution C T intron_variant MELA-AU 12 41668477 41668477 single base substitution C T intron_variant MELA-AU 12 41668654 41668654 single base substitution G A intron_variant MELA-AU 12 41668662 41668662 single base substitution G A intron_variant MELA-AU 12 41668675 41668675 single base substitution G A intron_variant MELA-AU 12 41669240 41669241 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41669274 41669274 single base substitution G A intron_variant MELA-AU 12 41669391 41669391 single base substitution G A intron_variant MELA-AU 12 41669518 41669518 single base substitution G A intron_variant MELA-AU 12 41669552 41669552 single base substitution G A intron_variant MELA-AU 12 41669565 41669565 single base substitution G A intron_variant MELA-AU 12 41669647 41669647 single base substitution C T intron_variant MELA-AU 12 41669696 41669696 single base substitution A C intron_variant MELA-AU 12 41669716 41669716 single base substitution G A intron_variant MELA-AU 12 41669891 41669891 single base substitution G A intron_variant MELA-AU 12 41670198 41670198 single base substitution G A intron_variant MELA-AU 12 41670203 41670203 single base substitution G A intron_variant MELA-AU 12 41670262 41670262 single base substitution C T intron_variant MELA-AU 12 41670327 41670327 single base substitution C A intron_variant MELA-AU 12 41670504 41670504 single base substitution C T intron_variant MELA-AU 12 41670848 41670860 deletion of <=200bp AAATATAACAATT - intron_variant MELA-AU 12 41671655 41671655 single base substitution T G intron_variant MELA-AU 12 41673042 41673042 single base substitution G A intron_variant MELA-AU 12 41673245 41673245 single base substitution C T intron_variant MELA-AU 12 41673305 41673305 single base substitution T A intron_variant MELA-AU 12 41673440 41673440 single base substitution G A intron_variant MELA-AU 12 41673884 41673884 single base substitution G A intron_variant MELA-AU 12 41673967 41673967 single base substitution G A intron_variant MELA-AU 12 41674549 41674549 single base substitution G A intron_variant MELA-AU 12 41674704 41674704 single base substitution C T intron_variant MELA-AU 12 41674721 41674721 single base substitution G A intron_variant MELA-AU 12 41674789 41674789 single base substitution C T intron_variant MELA-AU 12 41674849 41674849 single base substitution C T intron_variant MELA-AU 12 41675239 41675239 single base substitution T A intron_variant MELA-AU 12 41675413 41675413 single base substitution G A intron_variant MELA-AU 12 41675569 41675569 single base substitution G A intron_variant MELA-AU 12 41675629 41675629 single base substitution G A intron_variant MELA-AU 12 41676080 41676080 single base substitution G A intron_variant MELA-AU 12 41676129 41676129 single base substitution C T intron_variant MELA-AU 12 41676196 41676196 single base substitution G A intron_variant MELA-AU 12 41676791 41676791 single base substitution C T intron_variant MELA-AU 12 41676834 41676834 single base substitution A G intron_variant MELA-AU 12 41676841 41676841 single base substitution G A intron_variant MELA-AU 12 41676869 41676869 single base substitution A T intron_variant MELA-AU 12 41677080 41677080 single base substitution C T intron_variant MELA-AU 12 41677501 41677501 single base substitution T C intron_variant MELA-AU 12 41677531 41677531 single base substitution C T intron_variant MELA-AU 12 41677764 41677764 single base substitution C T intron_variant MELA-AU 12 41678248 41678248 single base substitution G A intron_variant MELA-AU 12 41678441 41678441 single base substitution C G intron_variant MELA-AU 12 41678588 41678588 single base substitution G A intron_variant MELA-AU 12 41679592 41679592 single base substitution G A intron_variant MELA-AU 12 41679627 41679627 single base substitution G A intron_variant MELA-AU 12 41680623 41680623 single base substitution C T intron_variant MELA-AU 12 41681416 41681416 single base substitution G A intron_variant MELA-AU 12 41681826 41681826 single base substitution A G intron_variant MELA-AU 12 41682091 41682091 single base substitution C T intron_variant MELA-AU 12 41682314 41682314 single base substitution C T intron_variant MELA-AU 12 41682486 41682486 single base substitution G A intron_variant MELA-AU 12 41682777 41682777 single base substitution C G intron_variant MELA-AU 12 41682855 41682855 single base substitution G A intron_variant MELA-AU 12 41683662 41683662 single base substitution C T intron_variant MELA-AU 12 41684541 41684541 single base substitution A G intron_variant MELA-AU 12 41684942 41684942 single base substitution T G intron_variant MELA-AU 12 41685592 41685592 single base substitution G A intron_variant MELA-AU 12 41685784 41685784 single base substitution G A intron_variant MELA-AU 12 41686044 41686044 single base substitution G A intron_variant MELA-AU 12 41687013 41687013 single base substitution G A intron_variant MELA-AU 12 41687026 41687026 single base substitution A G intron_variant MELA-AU 12 41687257 41687257 single base substitution C T intron_variant MELA-AU 12 41687884 41687884 single base substitution C T intron_variant MELA-AU 12 41688672 41688672 single base substitution G C intron_variant MELA-AU 12 41688867 41688867 single base substitution T A intron_variant MELA-AU 12 41688978 41688978 single base substitution G A intron_variant MELA-AU 12 41689324 41689324 single base substitution C T intron_variant MELA-AU 12 41689423 41689423 single base substitution G A intron_variant MELA-AU 12 41689525 41689525 single base substitution G T intron_variant MELA-AU 12 41689802 41689802 single base substitution C T intron_variant MELA-AU 12 41689924 41689924 single base substitution T G intron_variant MELA-AU 12 41690317 41690317 single base substitution C T intron_variant MELA-AU 12 41690509 41690509 single base substitution C T intron_variant MELA-AU 12 41690515 41690515 single base substitution A G intron_variant MELA-AU 12 41690965 41690965 single base substitution C T intron_variant MELA-AU 12 41690978 41690978 single base substitution C T intron_variant MELA-AU 12 41691003 41691003 single base substitution C T intron_variant MELA-AU 12 41691059 41691059 single base substitution G A intron_variant MELA-AU 12 41692140 41692140 single base substitution C T intron_variant MELA-AU 12 41692776 41692776 single base substitution G A intron_variant MELA-AU 12 41693503 41693503 single base substitution T C intron_variant MELA-AU 12 41693752 41693752 single base substitution G A intron_variant MELA-AU 12 41694164 41694164 single base substitution T C intron_variant MELA-AU 12 41694242 41694242 single base substitution G A intron_variant MELA-AU 12 41694539 41694539 single base substitution G A intron_variant MELA-AU 12 41695143 41695143 single base substitution C T intron_variant MELA-AU 12 41695949 41695949 single base substitution T A intron_variant MELA-AU 12 41696075 41696075 single base substitution T A intron_variant MELA-AU 12 41696766 41696766 single base substitution T A intron_variant MELA-AU 12 41696768 41696768 single base substitution A T intron_variant MELA-AU 12 41697115 41697115 single base substitution C T intron_variant MELA-AU 12 41697226 41697226 single base substitution T C intron_variant MELA-AU 12 41698060 41698060 single base substitution A T intron_variant MELA-AU 12 41698282 41698282 single base substitution G T intron_variant MELA-AU 12 41699287 41699287 single base substitution G A intron_variant MELA-AU 12 41699299 41699299 single base substitution C T intron_variant MELA-AU 12 41699481 41699481 single base substitution C T intron_variant MELA-AU 12 41699732 41699732 single base substitution C T intron_variant MELA-AU 12 41699900 41699900 single base substitution C T intron_variant MELA-AU 12 41700145 41700145 single base substitution G A intron_variant MELA-AU 12 41700329 41700329 single base substitution G A intron_variant MELA-AU 12 41700374 41700374 single base substitution C T intron_variant MELA-AU 12 41700844 41700844 single base substitution A G intron_variant MELA-AU 12 41700933 41700933 single base substitution T C intron_variant MELA-AU 12 41701185 41701185 single base substitution C T intron_variant MELA-AU 12 41701395 41701395 single base substitution G A intron_variant MELA-AU 12 41701930 41701930 single base substitution C T intron_variant MELA-AU 12 41702034 41702034 single base substitution T C intron_variant MELA-AU 12 41702944 41702944 single base substitution G A intron_variant MELA-AU 12 41702997 41702997 single base substitution A G intron_variant MELA-AU 12 41703098 41703099 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41703158 41703158 single base substitution T A intron_variant MELA-AU 12 41703407 41703407 insertion of <=200bp - A intron_variant MELA-AU 12 41703689 41703689 single base substitution A T intron_variant MELA-AU 12 41704702 41704703 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41704743 41704743 single base substitution G A intron_variant MELA-AU 12 41704950 41704950 single base substitution C T intron_variant MELA-AU 12 41705119 41705119 single base substitution G A intron_variant MELA-AU 12 41705121 41705121 single base substitution G A intron_variant MELA-AU 12 41705220 41705220 single base substitution G A intron_variant MELA-AU 12 41705717 41705717 single base substitution A T intron_variant MELA-AU 12 41706037 41706037 single base substitution T C intron_variant MELA-AU 12 41706267 41706267 single base substitution T A intron_variant MELA-AU 12 41706538 41706546 deletion of <=200bp ATTACTTCC - intron_variant MELA-AU 12 41706610 41706610 single base substitution A C intron_variant MELA-AU 12 41706945 41706945 single base substitution C T intron_variant MELA-AU 12 41707180 41707180 single base substitution A T intron_variant MELA-AU 12 41707254 41707254 single base substitution G A intron_variant MELA-AU 12 41707335 41707335 single base substitution C T intron_variant MELA-AU 12 41707336 41707336 single base substitution C T intron_variant MELA-AU 12 41707367 41707367 single base substitution C T intron_variant MELA-AU 12 41707387 41707387 single base substitution A G intron_variant MELA-AU 12 41707679 41707679 single base substitution T A intron_variant MELA-AU 12 41708673 41708673 single base substitution C A intron_variant MELA-AU 12 41708860 41708860 single base substitution A G intron_variant MELA-AU 12 41709170 41709170 single base substitution T C intron_variant MELA-AU 12 41709974 41709974 single base substitution C T intron_variant MELA-AU 12 41710108 41710108 deletion of <=200bp A - intron_variant MELA-AU 12 41710583 41710583 single base substitution C T intron_variant MELA-AU 12 41710608 41710608 single base substitution C T intron_variant MELA-AU 12 41711181 41711181 single base substitution C T intron_variant MELA-AU 12 41711380 41711380 single base substitution C T intron_variant MELA-AU 12 41711908 41711908 single base substitution A T intron_variant MELA-AU 12 41711938 41711938 single base substitution G A intron_variant MELA-AU 12 41712022 41712022 single base substitution G C intron_variant MELA-AU 12 41712051 41712051 single base substitution C T intron_variant MELA-AU 12 41712140 41712140 single base substitution A T intron_variant MELA-AU 12 41712333 41712333 single base substitution C A intron_variant MELA-AU 12 41712721 41712721 single base substitution G C intron_variant MELA-AU 12 41712730 41712730 single base substitution G A intron_variant MELA-AU 12 41713093 41713093 single base substitution C T intron_variant MELA-AU 12 41713103 41713103 single base substitution T C intron_variant MELA-AU 12 41713463 41713463 single base substitution G A intron_variant MELA-AU 12 41713514 41713514 single base substitution C T intron_variant MELA-AU 12 41713701 41713701 single base substitution C T intron_variant MELA-AU 12 41714019 41714019 single base substitution C T intron_variant MELA-AU 12 41714028 41714028 single base substitution G C intron_variant MELA-AU 12 41714032 41714032 single base substitution G A intron_variant MELA-AU 12 41714486 41714486 single base substitution T A intron_variant MELA-AU 12 41714580 41714580 single base substitution C A intron_variant MELA-AU 12 41715110 41715110 single base substitution G A intron_variant MELA-AU 12 41716011 41716011 single base substitution T A intron_variant MELA-AU 12 41716024 41716024 single base substitution G A intron_variant MELA-AU 12 41716031 41716031 single base substitution C T intron_variant MELA-AU 12 41716071 41716071 single base substitution C T intron_variant MELA-AU 12 41716270 41716270 single base substitution G A intron_variant MELA-AU 12 41716323 41716323 single base substitution C T intron_variant MELA-AU 12 41716391 41716391 single base substitution C T intron_variant MELA-AU 12 41716520 41716520 single base substitution G A intron_variant MELA-AU 12 41716540 41716540 single base substitution C T intron_variant MELA-AU 12 41716636 41716636 single base substitution G A intron_variant MELA-AU 12 41716661 41716661 single base substitution C T intron_variant MELA-AU 12 41716777 41716777 single base substitution G A intron_variant MELA-AU 12 41716934 41716934 single base substitution C T intron_variant MELA-AU 12 41717119 41717119 single base substitution A C intron_variant MELA-AU 12 41717152 41717152 single base substitution G A intron_variant MELA-AU 12 41717283 41717283 single base substitution G A intron_variant MELA-AU 12 41717297 41717297 single base substitution G A intron_variant MELA-AU 12 41717638 41717638 single base substitution G A intron_variant MELA-AU 12 41717839 41717839 single base substitution C T intron_variant MELA-AU 12 41717978 41717978 single base substitution C T intron_variant MELA-AU 12 41717979 41717979 single base substitution C T intron_variant MELA-AU 12 41718378 41718378 single base substitution A T intron_variant MELA-AU 12 41718557 41718557 single base substitution G A intron_variant MELA-AU 12 41718682 41718682 single base substitution G A intron_variant MELA-AU 12 41719401 41719401 single base substitution G A intron_variant MELA-AU 12 41719725 41719725 single base substitution C T intron_variant MELA-AU 12 41719952 41719952 insertion of <=200bp - ATTTTTGC intron_variant MELA-AU 12 41720216 41720216 single base substitution C T intron_variant MELA-AU 12 41720237 41720237 single base substitution C T intron_variant MELA-AU 12 41720992 41720992 single base substitution C T intron_variant MELA-AU 12 41721564 41721564 single base substitution T A intron_variant MELA-AU 12 41721736 41721736 single base substitution C T intron_variant MELA-AU 12 41721809 41721809 single base substitution G A intron_variant MELA-AU 12 41722424 41722424 single base substitution C T intron_variant MELA-AU 12 41722542 41722542 single base substitution G A intron_variant MELA-AU 12 41722651 41722651 single base substitution G A intron_variant MELA-AU 12 41723028 41723028 single base substitution C T intron_variant MELA-AU 12 41723258 41723258 single base substitution C T intron_variant MELA-AU 12 41723611 41723611 single base substitution C T intron_variant MELA-AU 12 41723634 41723634 single base substitution G A intron_variant MELA-AU 12 41723878 41723878 single base substitution G A intron_variant MELA-AU 12 41723905 41723905 single base substitution G A intron_variant MELA-AU 12 41723982 41723982 single base substitution G A intron_variant MELA-AU 12 41724183 41724183 single base substitution C T intron_variant MELA-AU 12 41724318 41724318 single base substitution C T intron_variant MELA-AU 12 41724515 41724515 single base substitution A G intron_variant MELA-AU 12 41724606 41724606 single base substitution G A intron_variant MELA-AU 12 41724651 41724651 single base substitution C T intron_variant MELA-AU 12 41724892 41724892 single base substitution C T intron_variant MELA-AU 12 41725035 41725035 single base substitution C T intron_variant MELA-AU 12 41725237 41725237 single base substitution A C intron_variant MELA-AU 12 41725318 41725318 single base substitution G A intron_variant MELA-AU 12 41725319 41725319 single base substitution G A intron_variant MELA-AU 12 41725730 41725730 single base substitution G A intron_variant MELA-AU 12 41725814 41725814 single base substitution G A intron_variant MELA-AU 12 41726111 41726111 single base substitution G A intron_variant MELA-AU 12 41726222 41726222 single base substitution G A intron_variant MELA-AU 12 41726317 41726317 single base substitution G A intron_variant MELA-AU 12 41726421 41726421 single base substitution G A intron_variant MELA-AU 12 41726787 41726787 single base substitution G T intron_variant MELA-AU 12 41726860 41726860 single base substitution G A intron_variant MELA-AU 12 41727037 41727037 single base substitution C T intron_variant MELA-AU 12 41727300 41727300 single base substitution G A intron_variant MELA-AU 12 41727338 41727338 single base substitution C T intron_variant MELA-AU 12 41727471 41727471 single base substitution C T intron_variant MELA-AU 12 41727514 41727514 single base substitution C T intron_variant MELA-AU 12 41727607 41727607 single base substitution G A intron_variant MELA-AU 12 41727784 41727784 single base substitution C T intron_variant MELA-AU 12 41727835 41727835 single base substitution C T intron_variant MELA-AU 12 41728308 41728308 single base substitution C T intron_variant MELA-AU 12 41728329 41728329 single base substitution C T intron_variant MELA-AU 12 41728367 41728367 single base substitution G A intron_variant MELA-AU 12 41728463 41728463 single base substitution C T intron_variant MELA-AU 12 41728507 41728507 single base substitution G A intron_variant MELA-AU 12 41728552 41728552 single base substitution G A intron_variant MELA-AU 12 41728555 41728555 single base substitution T C intron_variant MELA-AU 12 41728991 41728991 insertion of <=200bp - AAAC intron_variant MELA-AU 12 41729503 41729503 single base substitution G A intron_variant MELA-AU 12 41729610 41729610 single base substitution C T intron_variant MELA-AU 12 41729738 41729738 single base substitution C T intron_variant MELA-AU 12 41729824 41729824 single base substitution C T intron_variant MELA-AU 12 41730015 41730015 single base substitution G A intron_variant MELA-AU 12 41730228 41730228 single base substitution C T intron_variant MELA-AU 12 41730392 41730392 single base substitution C T intron_variant MELA-AU 12 41730401 41730401 single base substitution G A intron_variant MELA-AU 12 41730491 41730491 single base substitution T A intron_variant MELA-AU 12 41730620 41730620 single base substitution G A intron_variant MELA-AU 12 41730623 41730623 single base substitution G A intron_variant MELA-AU 12 41730880 41730880 single base substitution G A intron_variant MELA-AU 12 41730930 41730930 single base substitution C T intron_variant MELA-AU 12 41731130 41731130 single base substitution C T intron_variant MELA-AU 12 41731417 41731417 single base substitution C T intron_variant MELA-AU 12 41731463 41731463 single base substitution C T intron_variant MELA-AU 12 41731490 41731490 single base substitution C T intron_variant MELA-AU 12 41731541 41731541 single base substitution C T intron_variant MELA-AU 12 41731662 41731662 single base substitution G A intron_variant MELA-AU 12 41731718 41731718 single base substitution G A intron_variant MELA-AU 12 41732077 41732077 single base substitution C A intron_variant MELA-AU 12 41732120 41732120 single base substitution C T intron_variant MELA-AU 12 41732230 41732230 single base substitution C T intron_variant MELA-AU 12 41732305 41732305 single base substitution A T intron_variant MELA-AU 12 41732333 41732333 single base substitution C T intron_variant MELA-AU 12 41732350 41732350 single base substitution C T intron_variant MELA-AU 12 41732643 41732643 single base substitution C T intron_variant MELA-AU 12 41733142 41733142 single base substitution C T intron_variant MELA-AU 12 41733238 41733238 single base substitution G T intron_variant MELA-AU 12 41733344 41733344 single base substitution G A intron_variant MELA-AU 12 41733618 41733618 single base substitution G A intron_variant MELA-AU 12 41733626 41733626 single base substitution G A intron_variant MELA-AU 12 41733678 41733678 single base substitution T A intron_variant MELA-AU 12 41733902 41733902 single base substitution A G intron_variant MELA-AU 12 41733984 41733984 single base substitution C T intron_variant MELA-AU 12 41734038 41734038 single base substitution G A intron_variant MELA-AU 12 41734434 41734434 single base substitution G A intron_variant MELA-AU 12 41734492 41734492 single base substitution C T intron_variant MELA-AU 12 41734567 41734567 single base substitution G A intron_variant MELA-AU 12 41734571 41734571 single base substitution C T intron_variant MELA-AU 12 41734599 41734599 single base substitution G A intron_variant MELA-AU 12 41734605 41734605 single base substitution C G intron_variant MELA-AU 12 41734826 41734826 single base substitution G A intron_variant MELA-AU 12 41734835 41734835 single base substitution C T intron_variant MELA-AU 12 41734840 41734840 single base substitution G A intron_variant MELA-AU 12 41735091 41735091 single base substitution C T intron_variant MELA-AU 12 41735192 41735192 single base substitution C T intron_variant MELA-AU 12 41735516 41735516 single base substitution G A intron_variant MELA-AU 12 41736009 41736009 single base substitution G T intron_variant MELA-AU 12 41736067 41736067 single base substitution G A intron_variant MELA-AU 12 41736263 41736263 single base substitution A T intron_variant MELA-AU 12 41736288 41736288 single base substitution A G intron_variant MELA-AU 12 41736360 41736360 single base substitution C T intron_variant MELA-AU 12 41736392 41736392 single base substitution C T intron_variant MELA-AU 12 41736598 41736598 single base substitution G A intron_variant MELA-AU 12 41736678 41736678 single base substitution G A intron_variant MELA-AU 12 41736756 41736756 single base substitution C T intron_variant MELA-AU 12 41736782 41736782 single base substitution G A intron_variant MELA-AU 12 41736885 41736885 single base substitution G A intron_variant MELA-AU 12 41737226 41737226 single base substitution T G intron_variant MELA-AU 12 41737514 41737514 single base substitution A C intron_variant MELA-AU 12 41737897 41737897 single base substitution C T intron_variant MELA-AU 12 41737936 41737936 single base substitution T A intron_variant MELA-AU 12 41738566 41738566 single base substitution G A intron_variant MELA-AU 12 41738606 41738606 single base substitution C T intron_variant MELA-AU 12 41739228 41739228 single base substitution T C intron_variant MELA-AU 12 41739478 41739478 single base substitution T G intron_variant MELA-AU 12 41740090 41740090 single base substitution C T intron_variant MELA-AU 12 41740247 41740247 single base substitution G A intron_variant MELA-AU 12 41740538 41740538 single base substitution T A intron_variant MELA-AU 12 41740580 41740580 single base substitution C T intron_variant MELA-AU 12 41740830 41740830 single base substitution C T intron_variant MELA-AU 12 41740891 41740891 single base substitution G A intron_variant MELA-AU 12 41740933 41740933 single base substitution G A intron_variant MELA-AU 12 41740951 41740951 single base substitution C T intron_variant MELA-AU 12 41741444 41741444 single base substitution A C intron_variant MELA-AU 12 41741473 41741473 single base substitution C T intron_variant MELA-AU 12 41741750 41741750 single base substitution C T intron_variant MELA-AU 12 41741757 41741757 single base substitution G A intron_variant MELA-AU 12 41741956 41741957 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41741958 41741958 single base substitution C T intron_variant MELA-AU 12 41742600 41742600 single base substitution G A intron_variant MELA-AU 12 41742616 41742616 single base substitution C T intron_variant MELA-AU 12 41742623 41742623 single base substitution C T intron_variant MELA-AU 12 41742848 41742848 single base substitution T G intron_variant MELA-AU 12 41743023 41743023 single base substitution C T intron_variant MELA-AU 12 41743064 41743064 single base substitution A C intron_variant MELA-AU 12 41743168 41743168 single base substitution G A intron_variant MELA-AU 12 41743835 41743835 single base substitution G A intron_variant MELA-AU 12 41744044 41744044 single base substitution C T intron_variant MELA-AU 12 41744089 41744089 single base substitution C T intron_variant MELA-AU 12 41744121 41744121 single base substitution C T intron_variant MELA-AU 12 41744444 41744444 single base substitution C T intron_variant MELA-AU 12 41744561 41744561 single base substitution C T intron_variant MELA-AU 12 41744574 41744574 single base substitution T C intron_variant MELA-AU 12 41744839 41744839 single base substitution T A intron_variant MELA-AU 12 41744942 41744942 single base substitution G A intron_variant MELA-AU 12 41744993 41744993 single base substitution C T intron_variant MELA-AU 12 41745029 41745029 single base substitution G A intron_variant MELA-AU 12 41745136 41745136 single base substitution G A intron_variant MELA-AU 12 41745203 41745203 single base substitution C T intron_variant MELA-AU 12 41745276 41745276 single base substitution G A intron_variant MELA-AU 12 41745394 41745395 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 12 41745448 41745448 single base substitution G A intron_variant MELA-AU 12 41745696 41745696 single base substitution C T intron_variant MELA-AU 12 41745853 41745854 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 12 41745860 41745860 single base substitution G A intron_variant MELA-AU 12 41745964 41745964 single base substitution G A intron_variant MELA-AU 12 41746067 41746067 single base substitution G A intron_variant MELA-AU 12 41746114 41746114 single base substitution G A intron_variant MELA-AU 12 41746247 41746247 single base substitution C T intron_variant MELA-AU 12 41746420 41746420 single base substitution G A intron_variant MELA-AU 12 41746879 41746880 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41747056 41747056 single base substitution A G intron_variant MELA-AU 12 41747130 41747130 single base substitution C T intron_variant MELA-AU 12 41747221 41747221 single base substitution G A intron_variant MELA-AU 12 41747260 41747260 single base substitution G A intron_variant MELA-AU 12 41747270 41747270 single base substitution G A intron_variant MELA-AU 12 41747488 41747488 single base substitution G A intron_variant MELA-AU 12 41747595 41747595 single base substitution C T intron_variant MELA-AU 12 41747723 41747723 single base substitution G A intron_variant MELA-AU 12 41747728 41747729 multiple base substitution (>=2bp and <=200bp) AT CC intron_variant MELA-AU 12 41748052 41748052 single base substitution G A intron_variant MELA-AU 12 41748296 41748296 single base substitution A C intron_variant MELA-AU 12 41748422 41748422 single base substitution G A intron_variant MELA-AU 12 41748428 41748428 single base substitution C T intron_variant MELA-AU 12 41748433 41748433 single base substitution C T intron_variant MELA-AU 12 41748445 41748445 single base substitution C T intron_variant MELA-AU 12 41748618 41748618 single base substitution C T intron_variant MELA-AU 12 41748641 41748641 single base substitution C T intron_variant MELA-AU 12 41748658 41748658 single base substitution G A intron_variant MELA-AU 12 41748661 41748661 single base substitution C T intron_variant MELA-AU 12 41748754 41748754 single base substitution G A intron_variant MELA-AU 12 41748922 41748922 single base substitution G A intron_variant MELA-AU 12 41749069 41749069 single base substitution C T intron_variant MELA-AU 12 41749105 41749105 single base substitution G A intron_variant MELA-AU 12 41749582 41749582 single base substitution C T intron_variant MELA-AU 12 41749605 41749605 single base substitution C T intron_variant MELA-AU 12 41749912 41749912 single base substitution G A intron_variant MELA-AU 12 41750117 41750117 single base substitution A T intron_variant MELA-AU 12 41750349 41750349 single base substitution C T intron_variant MELA-AU 12 41750429 41750429 single base substitution G A intron_variant MELA-AU 12 41750833 41750833 single base substitution T C intron_variant MELA-AU 12 41750862 41750862 single base substitution G A intron_variant MELA-AU 12 41750948 41750948 single base substitution C T intron_variant MELA-AU 12 41751184 41751184 single base substitution G A intron_variant MELA-AU 12 41751211 41751211 single base substitution A C intron_variant MELA-AU 12 41751251 41751251 single base substitution C T intron_variant MELA-AU 12 41751368 41751368 single base substitution A T intron_variant MELA-AU 12 41751531 41751531 single base substitution C T intron_variant MELA-AU 12 41751761 41751761 single base substitution G A intron_variant MELA-AU 12 41751893 41751893 single base substitution C T intron_variant MELA-AU 12 41751950 41751950 single base substitution C T intron_variant MELA-AU 12 41752117 41752117 single base substitution C T intron_variant MELA-AU 12 41752173 41752173 single base substitution T C intron_variant MELA-AU 12 41752303 41752303 single base substitution C T intron_variant MELA-AU 12 41752323 41752323 single base substitution A G intron_variant MELA-AU 12 41752398 41752398 single base substitution G A intron_variant MELA-AU 12 41752920 41752920 single base substitution C T intron_variant MELA-AU 12 41753042 41753042 single base substitution G A intron_variant MELA-AU 12 41753207 41753207 single base substitution C T intron_variant MELA-AU 12 41753326 41753326 single base substitution T C intron_variant MELA-AU 12 41753589 41753589 single base substitution C T intron_variant MELA-AU 12 41753766 41753766 single base substitution C T intron_variant MELA-AU 12 41753781 41753781 single base substitution C T intron_variant MELA-AU 12 41754058 41754058 single base substitution G A intron_variant MELA-AU 12 41754149 41754149 single base substitution G T intron_variant MELA-AU 12 41754386 41754386 single base substitution A G intron_variant MELA-AU 12 41754589 41754589 single base substitution G A intron_variant MELA-AU 12 41754618 41754618 single base substitution C T intron_variant MELA-AU 12 41754834 41754834 single base substitution T A intron_variant MELA-AU 12 41754897 41754897 single base substitution C T intron_variant MELA-AU 12 41754958 41754958 single base substitution G A intron_variant MELA-AU 12 41755003 41755003 single base substitution A T intron_variant MELA-AU 12 41755118 41755118 single base substitution G A intron_variant MELA-AU 12 41755269 41755269 single base substitution A T intron_variant MELA-AU 12 41755324 41755324 single base substitution G A intron_variant MELA-AU 12 41755347 41755347 single base substitution G A intron_variant MELA-AU 12 41755455 41755455 single base substitution G A intron_variant MELA-AU 12 41755564 41755564 single base substitution A T intron_variant MELA-AU 12 41755600 41755600 single base substitution G A intron_variant MELA-AU 12 41755678 41755678 single base substitution C T intron_variant MELA-AU 12 41755679 41755679 single base substitution C A intron_variant MELA-AU 12 41755729 41755729 single base substitution C T intron_variant MELA-AU 12 41756147 41756147 single base substitution G A intron_variant MELA-AU 12 41756375 41756375 single base substitution C T intron_variant MELA-AU 12 41756803 41756803 single base substitution G T intron_variant MELA-AU 12 41756947 41756947 single base substitution A T intron_variant MELA-AU 12 41757088 41757088 single base substitution C T intron_variant MELA-AU 12 41757200 41757200 single base substitution G A intron_variant MELA-AU 12 41757734 41757734 single base substitution G A intron_variant MELA-AU 12 41757797 41757797 single base substitution G A intron_variant MELA-AU 12 41757911 41757911 single base substitution G A intron_variant MELA-AU 12 41758101 41758101 single base substitution G A intron_variant MELA-AU 12 41758599 41758599 single base substitution G A intron_variant MELA-AU 12 41758681 41758681 single base substitution T C intron_variant MELA-AU 12 41758798 41758798 single base substitution G A intron_variant MELA-AU 12 41758985 41758985 single base substitution G A intron_variant MELA-AU 12 41758988 41758988 single base substitution A T intron_variant MELA-AU 12 41759542 41759542 single base substitution G A intron_variant MELA-AU 12 41759798 41759798 single base substitution C T intron_variant MELA-AU 12 41759967 41759967 single base substitution C T intron_variant MELA-AU 12 41760406 41760406 single base substitution C T intron_variant MELA-AU 12 41760474 41760474 single base substitution G A intron_variant MELA-AU 12 41760769 41760769 single base substitution G A intron_variant MELA-AU 12 41761020 41761020 single base substitution T C intron_variant MELA-AU 12 41761028 41761028 single base substitution C T intron_variant MELA-AU 12 41761115 41761115 single base substitution C T intron_variant MELA-AU 12 41761140 41761140 single base substitution C T intron_variant MELA-AU 12 41761206 41761206 single base substitution G A intron_variant MELA-AU 12 41761311 41761311 single base substitution A G intron_variant MELA-AU 12 41761407 41761407 single base substitution C T intron_variant MELA-AU 12 41761435 41761435 single base substitution C T intron_variant MELA-AU 12 41761642 41761642 single base substitution G A intron_variant MELA-AU 12 41761653 41761653 single base substitution C T intron_variant MELA-AU 12 41761802 41761802 single base substitution C T intron_variant MELA-AU 12 41761815 41761816 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 12 41761937 41761937 single base substitution A T intron_variant MELA-AU 12 41762172 41762172 deletion of <=200bp C - intron_variant MELA-AU 12 41762444 41762444 single base substitution G A intron_variant MELA-AU 12 41762446 41762446 single base substitution G A intron_variant MELA-AU 12 41762625 41762625 single base substitution C T intron_variant MELA-AU 12 41762657 41762657 single base substitution G A intron_variant MELA-AU 12 41763117 41763117 single base substitution T A intron_variant MELA-AU 12 41763139 41763139 single base substitution C T intron_variant MELA-AU 12 41763192 41763192 single base substitution G A intron_variant MELA-AU 12 41763241 41763241 single base substitution C T intron_variant MELA-AU 12 41763425 41763425 single base substitution T C intron_variant MELA-AU 12 41763471 41763471 single base substitution C T intron_variant MELA-AU 12 41763736 41763736 single base substitution C T intron_variant MELA-AU 12 41763840 41763840 single base substitution C T intron_variant MELA-AU 12 41763885 41763885 single base substitution C T intron_variant MELA-AU 12 41763957 41763957 single base substitution C T intron_variant MELA-AU 12 41764131 41764131 single base substitution C T intron_variant MELA-AU 12 41764183 41764183 single base substitution C T intron_variant MELA-AU 12 41764208 41764208 single base substitution C T intron_variant MELA-AU 12 41764441 41764441 single base substitution C T intron_variant MELA-AU 12 41764770 41764770 single base substitution G A intron_variant MELA-AU 12 41765118 41765118 single base substitution G A intron_variant MELA-AU 12 41765182 41765182 single base substitution G A intron_variant MELA-AU 12 41765197 41765197 single base substitution C T intron_variant MELA-AU 12 41765619 41765619 single base substitution G A intron_variant MELA-AU 12 41765845 41765845 single base substitution G A intron_variant MELA-AU 12 41765899 41765899 single base substitution C T intron_variant MELA-AU 12 41765935 41765935 single base substitution G A intron_variant MELA-AU 12 41765997 41765997 single base substitution G A intron_variant MELA-AU 12 41766093 41766093 single base substitution C T intron_variant MELA-AU 12 41766291 41766291 single base substitution G A intron_variant MELA-AU 12 41766383 41766383 single base substitution C T intron_variant MELA-AU 12 41766386 41766386 single base substitution A G intron_variant MELA-AU 12 41766608 41766608 single base substitution G A intron_variant MELA-AU 12 41766625 41766625 single base substitution G A intron_variant MELA-AU 12 41766638 41766638 single base substitution G A intron_variant MELA-AU 12 41766659 41766659 single base substitution A T intron_variant MELA-AU 12 41766721 41766721 single base substitution C T intron_variant MELA-AU 12 41766743 41766743 single base substitution C T intron_variant MELA-AU 12 41766842 41766842 single base substitution C T intron_variant MELA-AU 12 41766918 41766918 single base substitution G A intron_variant MELA-AU 12 41767003 41767003 single base substitution G A intron_variant MELA-AU 12 41767056 41767056 single base substitution G A intron_variant MELA-AU 12 41767134 41767134 single base substitution C T intron_variant MELA-AU 12 41767306 41767306 single base substitution C T intron_variant MELA-AU 12 41767405 41767405 single base substitution C T intron_variant MELA-AU 12 41767612 41767612 single base substitution G A intron_variant MELA-AU 12 41767756 41767756 single base substitution C T intron_variant MELA-AU 12 41768077 41768077 single base substitution C T intron_variant MELA-AU 12 41768241 41768241 single base substitution C T intron_variant MELA-AU 12 41768481 41768481 single base substitution C T intron_variant MELA-AU 12 41768490 41768490 single base substitution C T intron_variant MELA-AU 12 41768497 41768497 single base substitution G A intron_variant MELA-AU 12 41768647 41768647 single base substitution T C intron_variant MELA-AU 12 41768655 41768655 single base substitution G A intron_variant MELA-AU 12 41769339 41769339 single base substitution T C intron_variant MELA-AU 12 41769498 41769498 single base substitution C T intron_variant MELA-AU 12 41769766 41769766 single base substitution C T intron_variant MELA-AU 12 41769809 41769809 single base substitution T C intron_variant MELA-AU 12 41769872 41769872 single base substitution G A intron_variant MELA-AU 12 41769894 41769894 single base substitution G A intron_variant MELA-AU 12 41770253 41770253 single base substitution G A intron_variant MELA-AU 12 41770300 41770300 single base substitution C T intron_variant MELA-AU 12 41770478 41770478 single base substitution G A intron_variant MELA-AU 12 41770509 41770509 single base substitution C T intron_variant MELA-AU 12 41770530 41770530 single base substitution T C intron_variant MELA-AU 12 41770619 41770619 single base substitution G A intron_variant MELA-AU 12 41770645 41770645 single base substitution G A intron_variant MELA-AU 12 41770733 41770733 single base substitution C T intron_variant MELA-AU 12 41771048 41771048 single base substitution C T intron_variant MELA-AU 12 41771098 41771098 single base substitution C T intron_variant MELA-AU 12 41771153 41771153 single base substitution C T intron_variant MELA-AU 12 41771262 41771262 single base substitution C T intron_variant MELA-AU 12 41771283 41771283 single base substitution G T intron_variant MELA-AU 12 41771350 41771350 single base substitution C T intron_variant MELA-AU 12 41771465 41771465 single base substitution C T intron_variant MELA-AU 12 41771843 41771843 single base substitution G A intron_variant MELA-AU 12 41771994 41771994 single base substitution T G intron_variant MELA-AU 12 41772028 41772028 single base substitution G A intron_variant MELA-AU 12 41772070 41772070 single base substitution G A intron_variant MELA-AU 12 41772139 41772139 single base substitution C T intron_variant MELA-AU 12 41772415 41772415 single base substitution C T intron_variant MELA-AU 12 41772416 41772416 single base substitution C T intron_variant MELA-AU 12 41772460 41772460 single base substitution G A intron_variant MELA-AU 12 41772594 41772594 single base substitution G A intron_variant MELA-AU 12 41772595 41772595 single base substitution G A intron_variant MELA-AU 12 41772627 41772627 single base substitution C T intron_variant MELA-AU 12 41772704 41772704 single base substitution G A intron_variant MELA-AU 12 41772905 41772905 single base substitution C T intron_variant MELA-AU 12 41772943 41772943 single base substitution G A intron_variant MELA-AU 12 41773166 41773166 single base substitution C T intron_variant MELA-AU 12 41773505 41773505 single base substitution C T intron_variant MELA-AU 12 41773577 41773577 single base substitution C T intron_variant MELA-AU 12 41773752 41773752 single base substitution C T intron_variant MELA-AU 12 41773946 41773946 single base substitution G A intron_variant MELA-AU 12 41774212 41774212 single base substitution C T intron_variant MELA-AU 12 41774316 41774316 single base substitution C T intron_variant MELA-AU 12 41774317 41774317 single base substitution C T intron_variant MELA-AU 12 41774411 41774411 single base substitution C T intron_variant MELA-AU 12 41774598 41774598 single base substitution C T intron_variant MELA-AU 12 41774683 41774683 single base substitution C T intron_variant MELA-AU 12 41775255 41775255 single base substitution G A intron_variant MELA-AU 12 41775839 41775839 single base substitution G A intron_variant MELA-AU 12 41775880 41775880 single base substitution G A intron_variant MELA-AU 12 41775906 41775906 single base substitution C T intron_variant MELA-AU 12 41775912 41775912 single base substitution C T intron_variant MELA-AU 12 41775944 41775944 single base substitution G A intron_variant MELA-AU 12 41776068 41776068 single base substitution C T intron_variant MELA-AU 12 41776211 41776211 single base substitution G A intron_variant MELA-AU 12 41776390 41776390 single base substitution G A intron_variant MELA-AU 12 41776447 41776447 single base substitution C T intron_variant MELA-AU 12 41776543 41776543 single base substitution C T intron_variant MELA-AU 12 41776774 41776774 single base substitution C T intron_variant MELA-AU 12 41776782 41776782 single base substitution G A intron_variant MELA-AU 12 41776952 41776952 single base substitution G A intron_variant MELA-AU 12 41777374 41777374 single base substitution C T intron_variant MELA-AU 12 41777387 41777388 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41777391 41777391 single base substitution C T intron_variant MELA-AU 12 41777635 41777635 single base substitution G A intron_variant MELA-AU 12 41777833 41777833 single base substitution C T intron_variant MELA-AU 12 41777839 41777839 single base substitution C T intron_variant MELA-AU 12 41778030 41778030 single base substitution G T intron_variant MELA-AU 12 41778086 41778086 single base substitution T A intron_variant MELA-AU 12 41778131 41778131 single base substitution A T intron_variant MELA-AU 12 41778155 41778155 single base substitution C T intron_variant MELA-AU 12 41778270 41778270 single base substitution C T intron_variant MELA-AU 12 41778515 41778515 single base substitution C T intron_variant MELA-AU 12 41778528 41778528 single base substitution C T intron_variant MELA-AU 12 41778545 41778545 single base substitution C T intron_variant MELA-AU 12 41778601 41778601 single base substitution G A intron_variant MELA-AU 12 41778606 41778606 single base substitution G A intron_variant MELA-AU 12 41778607 41778607 single base substitution G A intron_variant MELA-AU 12 41778794 41778794 single base substitution C T intron_variant MELA-AU 12 41778892 41778892 single base substitution G A intron_variant MELA-AU 12 41778893 41778893 single base substitution G A intron_variant MELA-AU 12 41778966 41778966 single base substitution G A intron_variant MELA-AU 12 41779042 41779042 single base substitution G A intron_variant MELA-AU 12 41779048 41779048 single base substitution C T intron_variant MELA-AU 12 41779088 41779088 single base substitution G T intron_variant MELA-AU 12 41779118 41779119 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41779137 41779137 single base substitution G A intron_variant MELA-AU 12 41779154 41779154 single base substitution G A intron_variant MELA-AU 12 41779164 41779164 single base substitution G A intron_variant MELA-AU 12 41779217 41779217 single base substitution G A intron_variant MELA-AU 12 41779322 41779322 single base substitution C T intron_variant MELA-AU 12 41779329 41779329 single base substitution G A intron_variant MELA-AU 12 41779528 41779528 single base substitution G A intron_variant MELA-AU 12 41779650 41779650 single base substitution C T intron_variant MELA-AU 12 41780157 41780157 single base substitution G A intron_variant MELA-AU 12 41780674 41780674 single base substitution G A intron_variant MELA-AU 12 41780679 41780679 single base substitution G A intron_variant MELA-AU 12 41780784 41780784 single base substitution G A intron_variant MELA-AU 12 41780820 41780820 single base substitution C T intron_variant MELA-AU 12 41780918 41780918 single base substitution A G intron_variant MELA-AU 12 41780973 41780973 single base substitution G A intron_variant MELA-AU 12 41781323 41781323 single base substitution G A intron_variant MELA-AU 12 41781447 41781447 single base substitution G A intron_variant MELA-AU 12 41781672 41781672 single base substitution G A intron_variant MELA-AU 12 41782011 41782011 single base substitution G A intron_variant MELA-AU 12 41782082 41782082 single base substitution G A intron_variant MELA-AU 12 41782219 41782219 single base substitution C T intron_variant MELA-AU 12 41782635 41782635 single base substitution T G intron_variant MELA-AU 12 41782642 41782642 single base substitution C T intron_variant MELA-AU 12 41782660 41782660 single base substitution T C intron_variant MELA-AU 12 41782862 41782862 single base substitution G A intron_variant MELA-AU 12 41782869 41782869 single base substitution G A intron_variant MELA-AU 12 41782995 41782995 single base substitution G A intron_variant MELA-AU 12 41783137 41783137 single base substitution C T intron_variant MELA-AU 12 41783289 41783289 single base substitution C T intron_variant MELA-AU 12 41783327 41783327 single base substitution C T intron_variant MELA-AU 12 41783783 41783783 single base substitution G A intron_variant MELA-AU 12 41783783 41783784 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41784245 41784245 single base substitution G A intron_variant MELA-AU 12 41784634 41784634 single base substitution C T intron_variant MELA-AU 12 41784960 41784961 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 12 41785015 41785015 single base substitution G A intron_variant MELA-AU 12 41785159 41785159 single base substitution C T intron_variant MELA-AU 12 41785378 41785378 single base substitution A G intron_variant MELA-AU 12 41785428 41785428 single base substitution A G intron_variant MELA-AU 12 41786464 41786464 single base substitution C T intron_variant MELA-AU 12 41786981 41786981 single base substitution T C intron_variant MELA-AU 12 41786987 41786987 single base substitution C T intron_variant MELA-AU 12 41787263 41787263 single base substitution C T intron_variant MELA-AU 12 41787630 41787630 single base substitution C T intron_variant MELA-AU 12 41787675 41787675 single base substitution C T intron_variant MELA-AU 12 41788279 41788279 single base substitution C T intron_variant MELA-AU 12 41788334 41788334 single base substitution G A intron_variant MELA-AU 12 41788348 41788348 single base substitution C T intron_variant MELA-AU 12 41788506 41788506 single base substitution C T intron_variant MELA-AU 12 41788595 41788595 single base substitution G A intron_variant MELA-AU 12 41788632 41788632 single base substitution G A intron_variant MELA-AU 12 41788784 41788784 single base substitution C A intron_variant MELA-AU 12 41789531 41789531 single base substitution A G intron_variant MELA-AU 12 41789590 41789590 single base substitution G A intron_variant MELA-AU 12 41789744 41789744 single base substitution G A intron_variant MELA-AU 12 41789766 41789766 single base substitution C T intron_variant MELA-AU 12 41789799 41789799 single base substitution C T intron_variant MELA-AU 12 41790044 41790044 single base substitution C T intron_variant MELA-AU 12 41790065 41790065 single base substitution C T intron_variant MELA-AU 12 41790078 41790078 single base substitution C T intron_variant MELA-AU 12 41790362 41790362 single base substitution G A intron_variant MELA-AU 12 41790766 41790766 single base substitution A C intron_variant MELA-AU 12 41790817 41790817 single base substitution C T intron_variant MELA-AU 12 41790973 41790973 single base substitution A T intron_variant MELA-AU 12 41791045 41791045 single base substitution C T intron_variant MELA-AU 12 41791104 41791104 single base substitution C T intron_variant MELA-AU 12 41791161 41791161 single base substitution G A intron_variant MELA-AU 12 41791331 41791331 single base substitution C A intron_variant MELA-AU 12 41791487 41791487 single base substitution T C intron_variant MELA-AU 12 41791718 41791718 single base substitution A T intron_variant MELA-AU 12 41791996 41791996 single base substitution C T intron_variant MELA-AU 12 41792005 41792005 single base substitution C T intron_variant MELA-AU 12 41792130 41792130 single base substitution G A intron_variant MELA-AU 12 41792191 41792191 single base substitution G A intron_variant MELA-AU 12 41792689 41792689 single base substitution C T intron_variant MELA-AU 12 41792832 41792832 single base substitution G A intron_variant MELA-AU 12 41793272 41793272 single base substitution C G intron_variant MELA-AU 12 41793334 41793334 single base substitution C T intron_variant MELA-AU 12 41793573 41793573 single base substitution A G intron_variant MELA-AU 12 41793666 41793666 single base substitution C T intron_variant MELA-AU 12 41793763 41793763 single base substitution G A intron_variant MELA-AU 12 41793801 41793801 single base substitution C G intron_variant MELA-AU 12 41793967 41793967 single base substitution C T intron_variant MELA-AU 12 41794024 41794024 single base substitution C G intron_variant MELA-AU 12 41794130 41794130 single base substitution G A intron_variant MELA-AU 12 41794143 41794143 single base substitution A T intron_variant MELA-AU 12 41794393 41794393 single base substitution G A intron_variant MELA-AU 12 41794526 41794526 single base substitution G A intron_variant MELA-AU 12 41794661 41794661 single base substitution G A intron_variant MELA-AU 12 41794686 41794686 single base substitution C T intron_variant MELA-AU 12 41794769 41794769 single base substitution G A intron_variant MELA-AU 12 41794918 41794918 single base substitution A C intron_variant MELA-AU 12 41795130 41795130 single base substitution C T intron_variant MELA-AU 12 41795335 41795335 single base substitution C T intron_variant MELA-AU 12 41795470 41795471 multiple base substitution (>=2bp and <=200bp) GT AC intron_variant MELA-AU 12 41795558 41795558 single base substitution G A intron_variant MELA-AU 12 41795677 41795677 single base substitution C T intron_variant MELA-AU 12 41795698 41795698 single base substitution C T intron_variant MELA-AU 12 41796896 41796896 single base substitution C T intron_variant MELA-AU 12 41796953 41796953 single base substitution C T intron_variant MELA-AU 12 41796961 41796961 single base substitution G A intron_variant MELA-AU 12 41797061 41797061 single base substitution C T intron_variant MELA-AU 12 41797257 41797257 single base substitution G A intron_variant MELA-AU 12 41797315 41797315 single base substitution C T intron_variant MELA-AU 12 41797410 41797410 single base substitution G A intron_variant MELA-AU 12 41797592 41797592 single base substitution T C intron_variant MELA-AU 12 41797640 41797640 single base substitution C T intron_variant MELA-AU 12 41797859 41797859 single base substitution C T intron_variant MELA-AU 12 41797874 41797874 single base substitution C T intron_variant MELA-AU 12 41797996 41797996 single base substitution G A intron_variant MELA-AU 12 41798039 41798039 single base substitution C T intron_variant MELA-AU 12 41798112 41798112 single base substitution C T intron_variant MELA-AU 12 41798201 41798201 single base substitution C T intron_variant MELA-AU 12 41798226 41798226 single base substitution G A intron_variant MELA-AU 12 41798275 41798275 single base substitution G A intron_variant MELA-AU 12 41798374 41798374 single base substitution G A intron_variant MELA-AU 12 41798472 41798472 single base substitution C T intron_variant MELA-AU 12 41798528 41798528 single base substitution C T intron_variant MELA-AU 12 41798702 41798702 single base substitution T C intron_variant MELA-AU 12 41798790 41798791 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 41799033 41799033 single base substitution G A intron_variant MELA-AU 12 41799278 41799278 single base substitution G A intron_variant MELA-AU 12 41799326 41799326 single base substitution G A intron_variant MELA-AU 12 41799327 41799327 single base substitution G A intron_variant MELA-AU 12 41799390 41799390 single base substitution C T intron_variant MELA-AU 12 41799423 41799423 single base substitution C T intron_variant MELA-AU 12 41799687 41799687 single base substitution G A intron_variant MELA-AU 12 41799767 41799767 single base substitution G A intron_variant MELA-AU 12 41799777 41799777 single base substitution G A intron_variant MELA-AU 12 41800097 41800097 single base substitution G A intron_variant MELA-AU 12 41800279 41800279 single base substitution G A intron_variant MELA-AU 12 41800343 41800343 single base substitution C T intron_variant MELA-AU 12 41800418 41800418 single base substitution C T intron_variant MELA-AU 12 41800542 41800542 single base substitution C T intron_variant MELA-AU 12 41800820 41800820 single base substitution A T intron_variant MELA-AU 12 41800894 41800894 single base substitution C T intron_variant MELA-AU 12 41801001 41801001 single base substitution C T intron_variant MELA-AU 12 41801305 41801305 single base substitution G T intron_variant MELA-AU 12 41801321 41801321 single base substitution C T intron_variant MELA-AU 12 41801635 41801635 single base substitution C T intron_variant MELA-AU 12 41801758 41801758 single base substitution G A intron_variant MELA-AU 12 41801934 41801934 single base substitution G A intron_variant MELA-AU 12 41802908 41802908 single base substitution G A intron_variant MELA-AU 12 41803032 41803032 single base substitution G A intron_variant MELA-AU 12 41803118 41803118 single base substitution C T intron_variant MELA-AU 12 41803119 41803119 single base substitution C T intron_variant MELA-AU 12 41803764 41803764 single base substitution C A intron_variant MELA-AU 12 41803820 41803820 single base substitution C T intron_variant MELA-AU 12 41803981 41803981 single base substitution T C intron_variant MELA-AU 12 41804024 41804024 single base substitution C T intron_variant MELA-AU 12 41804061 41804061 single base substitution T A intron_variant MELA-AU 12 41804545 41804545 single base substitution G A intron_variant MELA-AU 12 41804565 41804565 single base substitution G A intron_variant MELA-AU 12 41804583 41804583 single base substitution G A intron_variant MELA-AU 12 41804806 41804806 single base substitution G A intron_variant MELA-AU 12 41804871 41804871 single base substitution T A intron_variant MELA-AU 12 41805336 41805336 single base substitution C T intron_variant MELA-AU 12 41805544 41805544 single base substitution C T intron_variant MELA-AU 12 41805911 41805911 single base substitution G A intron_variant MELA-AU 12 41805918 41805918 single base substitution C T intron_variant MELA-AU 12 41805931 41805931 single base substitution C T intron_variant MELA-AU 12 41806048 41806048 single base substitution C T intron_variant MELA-AU 12 41806142 41806142 single base substitution G A intron_variant MELA-AU 12 41806181 41806181 single base substitution T C intron_variant MELA-AU 12 41806240 41806240 single base substitution G A intron_variant MELA-AU 12 41806267 41806267 single base substitution C T intron_variant MELA-AU 12 41806407 41806407 single base substitution G A intron_variant MELA-AU 12 41806650 41806650 single base substitution G T intron_variant MELA-AU 12 41806676 41806676 single base substitution G A intron_variant MELA-AU 12 41806784 41806784 single base substitution C A intron_variant MELA-AU 12 41806786 41806786 single base substitution G A intron_variant MELA-AU 12 41806946 41806946 single base substitution G A intron_variant MELA-AU 12 41807105 41807105 single base substitution G A intron_variant MELA-AU 12 41807185 41807185 single base substitution G A intron_variant MELA-AU 12 41807187 41807187 single base substitution T A intron_variant MELA-AU 12 41807246 41807246 single base substitution G A intron_variant MELA-AU 12 41807443 41807443 single base substitution A C intron_variant MELA-AU 12 41807648 41807648 single base substitution C T intron_variant MELA-AU 12 41807649 41807649 single base substitution C T intron_variant MELA-AU 12 41807767 41807767 single base substitution C T intron_variant MELA-AU 12 41807780 41807780 single base substitution C T intron_variant MELA-AU 12 41807823 41807823 single base substitution C T intron_variant MELA-AU 12 41808112 41808112 single base substitution G C intron_variant MELA-AU 12 41808128 41808128 single base substitution C T intron_variant MELA-AU 12 41808478 41808478 single base substitution G A intron_variant MELA-AU 12 41808537 41808537 single base substitution G A intron_variant MELA-AU 12 41808549 41808549 single base substitution G A intron_variant MELA-AU 12 41808552 41808553 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41808728 41808728 single base substitution G A intron_variant MELA-AU 12 41808875 41808875 single base substitution C T intron_variant MELA-AU 12 41808983 41808983 single base substitution G A intron_variant MELA-AU 12 41809095 41809095 single base substitution G A intron_variant MELA-AU 12 41809323 41809323 single base substitution G A intron_variant MELA-AU 12 41809429 41809429 single base substitution G A intron_variant MELA-AU 12 41809521 41809521 single base substitution G A intron_variant MELA-AU 12 41809583 41809583 single base substitution G A intron_variant MELA-AU 12 41809812 41809812 single base substitution C T intron_variant MELA-AU 12 41810587 41810587 single base substitution T C intron_variant MELA-AU 12 41810801 41810801 single base substitution C T intron_variant MELA-AU 12 41810819 41810819 single base substitution T C intron_variant MELA-AU 12 41810918 41810918 single base substitution C T intron_variant MELA-AU 12 41810940 41810940 single base substitution G A intron_variant MELA-AU 12 41810955 41810955 single base substitution C T intron_variant MELA-AU 12 41811494 41811494 single base substitution G A intron_variant MELA-AU 12 41811544 41811544 single base substitution G A intron_variant MELA-AU 12 41811642 41811642 single base substitution G A intron_variant MELA-AU 12 41811748 41811748 single base substitution C T intron_variant MELA-AU 12 41811856 41811856 single base substitution G A intron_variant MELA-AU 12 41812199 41812199 single base substitution G A intron_variant MELA-AU 12 41812439 41812439 single base substitution C T intron_variant MELA-AU 12 41812540 41812540 single base substitution G A intron_variant MELA-AU 12 41812887 41812887 single base substitution C T intron_variant MELA-AU 12 41813291 41813291 single base substitution C A intron_variant MELA-AU 12 41813972 41813972 single base substitution C T intron_variant MELA-AU 12 41814056 41814056 single base substitution C T intron_variant MELA-AU 12 41814095 41814095 single base substitution C T intron_variant MELA-AU 12 41814154 41814154 single base substitution C G intron_variant MELA-AU 12 41814424 41814424 single base substitution C T intron_variant MELA-AU 12 41814556 41814556 single base substitution C T intron_variant MELA-AU 12 41814592 41814592 single base substitution C T intron_variant MELA-AU 12 41814619 41814619 single base substitution T C intron_variant MELA-AU 12 41814632 41814632 single base substitution T C intron_variant MELA-AU 12 41814680 41814680 single base substitution C T intron_variant MELA-AU 12 41814877 41814877 single base substitution C T intron_variant MELA-AU 12 41814964 41814964 single base substitution C T intron_variant MELA-AU 12 41815049 41815049 single base substitution G A intron_variant MELA-AU 12 41815123 41815123 single base substitution C T intron_variant MELA-AU 12 41815396 41815396 single base substitution G A intron_variant MELA-AU 12 41815405 41815405 single base substitution C T intron_variant MELA-AU 12 41815440 41815440 single base substitution G A intron_variant MELA-AU 12 41815620 41815620 single base substitution G A intron_variant MELA-AU 12 41815701 41815701 single base substitution C T intron_variant MELA-AU 12 41815767 41815767 single base substitution G A intron_variant MELA-AU 12 41815841 41815841 single base substitution G A intron_variant MELA-AU 12 41815895 41815895 single base substitution C T intron_variant MELA-AU 12 41815981 41815981 single base substitution G A intron_variant MELA-AU 12 41816224 41816224 single base substitution G A intron_variant MELA-AU 12 41816354 41816354 single base substitution G C intron_variant MELA-AU 12 41816483 41816483 single base substitution G A intron_variant MELA-AU 12 41816488 41816488 single base substitution G A intron_variant MELA-AU 12 41816913 41816913 single base substitution T C intron_variant MELA-AU 12 41817101 41817101 single base substitution C T intron_variant MELA-AU 12 41817141 41817141 single base substitution C T intron_variant MELA-AU 12 41817142 41817142 single base substitution C T intron_variant MELA-AU 12 41817194 41817194 single base substitution G A intron_variant MELA-AU 12 41817220 41817220 single base substitution C T intron_variant MELA-AU 12 41817460 41817460 single base substitution T A intron_variant MELA-AU 12 41817563 41817563 single base substitution G A intron_variant MELA-AU 12 41817606 41817606 single base substitution G A intron_variant MELA-AU 12 41817610 41817610 single base substitution G A intron_variant MELA-AU 12 41817642 41817642 single base substitution G A intron_variant MELA-AU 12 41817686 41817686 single base substitution G A intron_variant MELA-AU 12 41817715 41817715 single base substitution G A intron_variant MELA-AU 12 41818133 41818133 single base substitution C T intron_variant MELA-AU 12 41818214 41818214 single base substitution G A intron_variant MELA-AU 12 41818343 41818343 single base substitution G A intron_variant MELA-AU 12 41818365 41818365 single base substitution C T intron_variant MELA-AU 12 41818487 41818487 single base substitution G A intron_variant MELA-AU 12 41818495 41818495 single base substitution G A intron_variant MELA-AU 12 41818503 41818503 single base substitution C T intron_variant MELA-AU 12 41818581 41818581 single base substitution C T intron_variant MELA-AU 12 41818729 41818729 single base substitution C T intron_variant MELA-AU 12 41818832 41818832 single base substitution G T intron_variant MELA-AU 12 41819200 41819200 single base substitution G A intron_variant MELA-AU 12 41819296 41819296 single base substitution G A intron_variant MELA-AU 12 41819834 41819834 single base substitution G A intron_variant MELA-AU 12 41819835 41819835 single base substitution G A intron_variant MELA-AU 12 41819957 41819957 single base substitution G A intron_variant MELA-AU 12 41820386 41820386 single base substitution G A intron_variant MELA-AU 12 41820593 41820593 single base substitution T G intron_variant MELA-AU 12 41820638 41820638 single base substitution G A intron_variant MELA-AU 12 41820682 41820682 single base substitution A T intron_variant MELA-AU 12 41820735 41820735 single base substitution G T intron_variant MELA-AU 12 41821077 41821077 single base substitution T A intron_variant MELA-AU 12 41821462 41821462 single base substitution G A intron_variant MELA-AU 12 41821546 41821546 single base substitution G A intron_variant MELA-AU 12 41821921 41821921 single base substitution C T intron_variant MELA-AU 12 41822064 41822064 single base substitution A G intron_variant MELA-AU 12 41822482 41822482 single base substitution T C intron_variant MELA-AU 12 41822500 41822500 single base substitution G A intron_variant MELA-AU 12 41822642 41822642 single base substitution G A intron_variant MELA-AU 12 41823036 41823036 single base substitution C T intron_variant MELA-AU 12 41823181 41823181 single base substitution T C intron_variant MELA-AU 12 41823762 41823762 single base substitution G C intron_variant MELA-AU 12 41823893 41823893 single base substitution T A intron_variant MELA-AU 12 41823999 41823999 single base substitution C A intron_variant MELA-AU 12 41824010 41824010 single base substitution G T intron_variant MELA-AU 12 41824019 41824019 single base substitution C T intron_variant MELA-AU 12 41824054 41824054 single base substitution G A intron_variant MELA-AU 12 41824246 41824247 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41824257 41824257 single base substitution G A intron_variant MELA-AU 12 41824552 41824552 single base substitution C T intron_variant MELA-AU 12 41824775 41824775 single base substitution G A intron_variant MELA-AU 12 41824813 41824813 single base substitution G A intron_variant MELA-AU 12 41824829 41824829 single base substitution G A intron_variant MELA-AU 12 41824840 41824840 single base substitution A C intron_variant MELA-AU 12 41825131 41825131 single base substitution C T intron_variant MELA-AU 12 41825347 41825347 single base substitution G A intron_variant MELA-AU 12 41825363 41825363 single base substitution T A intron_variant MELA-AU 12 41825582 41825582 single base substitution A T intron_variant MELA-AU 12 41825636 41825636 single base substitution G A intron_variant MELA-AU 12 41825717 41825717 single base substitution A T intron_variant MELA-AU 12 41825923 41825923 single base substitution G A intron_variant MELA-AU 12 41826056 41826056 single base substitution C T intron_variant MELA-AU 12 41826075 41826075 single base substitution G A intron_variant MELA-AU 12 41826274 41826274 single base substitution C T intron_variant MELA-AU 12 41826547 41826547 single base substitution G A intron_variant MELA-AU 12 41826547 41826547 single base substitution G A upstream_gene_variant MELA-AU 12 41826671 41826671 single base substitution G T intron_variant MELA-AU 12 41826671 41826671 single base substitution G T upstream_gene_variant MELA-AU 12 41827008 41827008 single base substitution C T intron_variant MELA-AU 12 41827008 41827008 single base substitution C T upstream_gene_variant MELA-AU 12 41827192 41827192 single base substitution C T intron_variant MELA-AU 12 41827192 41827192 single base substitution C T upstream_gene_variant MELA-AU 12 41827282 41827282 single base substitution C A intron_variant MELA-AU 12 41827282 41827282 single base substitution C A upstream_gene_variant MELA-AU 12 41827415 41827415 single base substitution C T intron_variant MELA-AU 12 41827415 41827415 single base substitution C T upstream_gene_variant MELA-AU 12 41827744 41827744 single base substitution G A intron_variant MELA-AU 12 41827744 41827744 single base substitution G A upstream_gene_variant MELA-AU 12 41827885 41827885 single base substitution G A intron_variant MELA-AU 12 41827885 41827885 single base substitution G A upstream_gene_variant MELA-AU 12 41828062 41828062 single base substitution G A intron_variant MELA-AU 12 41828062 41828062 single base substitution G A upstream_gene_variant MELA-AU 12 41828194 41828194 single base substitution G A intron_variant MELA-AU 12 41828194 41828194 single base substitution G A upstream_gene_variant MELA-AU 12 41828236 41828236 single base substitution C T intron_variant MELA-AU 12 41828236 41828236 single base substitution C T upstream_gene_variant MELA-AU 12 41828282 41828282 single base substitution C A intron_variant MELA-AU 12 41828282 41828282 single base substitution C A upstream_gene_variant MELA-AU 12 41828285 41828285 single base substitution C T intron_variant MELA-AU 12 41828285 41828285 single base substitution C T upstream_gene_variant MELA-AU 12 41828365 41828365 single base substitution G A intron_variant MELA-AU 12 41828365 41828365 single base substitution G A upstream_gene_variant MELA-AU 12 41828390 41828390 single base substitution C T intron_variant MELA-AU 12 41828390 41828390 single base substitution C T upstream_gene_variant MELA-AU 12 41828450 41828450 single base substitution C T intron_variant MELA-AU 12 41828450 41828450 single base substitution C T upstream_gene_variant MELA-AU 12 41828471 41828471 single base substitution A G intron_variant MELA-AU 12 41828471 41828471 single base substitution A G upstream_gene_variant MELA-AU 12 41828580 41828580 single base substitution G A intron_variant MELA-AU 12 41828580 41828580 single base substitution G A upstream_gene_variant MELA-AU 12 41828680 41828680 single base substitution G A intron_variant MELA-AU 12 41828680 41828680 single base substitution G A upstream_gene_variant MELA-AU 12 41828763 41828763 single base substitution C T intron_variant MELA-AU 12 41828763 41828763 single base substitution C T upstream_gene_variant MELA-AU 12 41828911 41828911 single base substitution G A intron_variant MELA-AU 12 41828911 41828911 single base substitution G A upstream_gene_variant MELA-AU 12 41829090 41829090 single base substitution T C intron_variant MELA-AU 12 41829090 41829090 single base substitution T C upstream_gene_variant MELA-AU 12 41829129 41829129 single base substitution G A intron_variant MELA-AU 12 41829129 41829129 single base substitution G A upstream_gene_variant MELA-AU 12 41829230 41829230 single base substitution C T intron_variant MELA-AU 12 41829230 41829230 single base substitution C T upstream_gene_variant MELA-AU 12 41829395 41829395 single base substitution C T intron_variant MELA-AU 12 41829395 41829395 single base substitution C T upstream_gene_variant MELA-AU 12 41829867 41829867 single base substitution C T intron_variant MELA-AU 12 41829867 41829867 single base substitution C T upstream_gene_variant MELA-AU 12 41829890 41829890 single base substitution T A intron_variant MELA-AU 12 41829890 41829890 single base substitution T A upstream_gene_variant MELA-AU 12 41830033 41830033 single base substitution C T intron_variant MELA-AU 12 41830033 41830033 single base substitution C T upstream_gene_variant MELA-AU 12 41830321 41830321 single base substitution G A intron_variant MELA-AU 12 41830321 41830321 single base substitution G A upstream_gene_variant MELA-AU 12 41830371 41830371 single base substitution C T intron_variant MELA-AU 12 41830371 41830371 single base substitution C T upstream_gene_variant MELA-AU 12 41830450 41830450 single base substitution G A intron_variant MELA-AU 12 41830450 41830450 single base substitution G A upstream_gene_variant MELA-AU 12 41830769 41830769 single base substitution G A intron_variant MELA-AU 12 41830769 41830769 single base substitution G A upstream_gene_variant MELA-AU 12 41831059 41831059 single base substitution C T intron_variant MELA-AU 12 41831059 41831059 single base substitution C T upstream_gene_variant MELA-AU 12 41831208 41831208 single base substitution C T intron_variant MELA-AU 12 41831208 41831208 single base substitution C T upstream_gene_variant MELA-AU 12 41831267 41831267 single base substitution T C intron_variant MELA-AU 12 41831267 41831267 single base substitution T C upstream_gene_variant MELA-AU 12 41831362 41831362 single base substitution C T intron_variant MELA-AU 12 41831362 41831362 single base substitution C T upstream_gene_variant MELA-AU 12 41831783 41831783 single base substitution G A 5_prime_UTR_variant MELA-AU 12 41831783 41831783 single base substitution G A intron_variant MELA-AU 12 41831783 41831783 single base substitution G A missense_variant E13K 37G>A MELA-AU 12 41831948 41831948 single base substitution G A intron_variant MELA-AU 12 41832240 41832240 single base substitution C T intron_variant MELA-AU 12 41832303 41832303 single base substitution C T intron_variant MELA-AU 12 41832609 41832609 single base substitution C T intron_variant MELA-AU 12 41832633 41832633 single base substitution G A intron_variant MELA-AU 12 41832675 41832675 single base substitution C T intron_variant MELA-AU 12 41832801 41832801 single base substitution C T intron_variant MELA-AU 12 41832869 41832869 single base substitution G A intron_variant MELA-AU 12 41833076 41833076 single base substitution G A intron_variant MELA-AU 12 41833096 41833096 single base substitution A T intron_variant MELA-AU 12 41833263 41833263 single base substitution A G intron_variant MELA-AU 12 41833591 41833591 single base substitution G A intron_variant MELA-AU 12 41834313 41834313 single base substitution A G intron_variant MELA-AU 12 41834471 41834471 single base substitution C T intron_variant MELA-AU 12 41834798 41834798 single base substitution G A intron_variant MELA-AU 12 41834846 41834846 single base substitution C T intron_variant MELA-AU 12 41835149 41835149 single base substitution G A intron_variant MELA-AU 12 41835394 41835394 single base substitution C T intron_variant MELA-AU 12 41835399 41835399 single base substitution C T intron_variant MELA-AU 12 41835486 41835486 single base substitution G A intron_variant MELA-AU 12 41835550 41835550 single base substitution C T intron_variant MELA-AU 12 41835551 41835551 single base substitution C T intron_variant MELA-AU 12 41835565 41835565 single base substitution C T intron_variant MELA-AU 12 41835876 41835876 single base substitution G A intron_variant MELA-AU 12 41836196 41836196 single base substitution C T intron_variant MELA-AU 12 41836310 41836310 single base substitution A T intron_variant MELA-AU 12 41836371 41836371 single base substitution A G intron_variant MELA-AU 12 41836632 41836632 single base substitution G A intron_variant MELA-AU 12 41836664 41836664 single base substitution G A intron_variant MELA-AU 12 41836879 41836879 single base substitution C T intron_variant MELA-AU 12 41836908 41836909 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41837141 41837141 single base substitution G A intron_variant MELA-AU 12 41837239 41837239 single base substitution C T intron_variant MELA-AU 12 41837431 41837431 single base substitution C T intron_variant MELA-AU 12 41837483 41837483 single base substitution G A intron_variant MELA-AU 12 41837625 41837625 single base substitution C T intron_variant MELA-AU 12 41837884 41837884 single base substitution C T intron_variant MELA-AU 12 41837886 41837886 single base substitution G A intron_variant MELA-AU 12 41838133 41838133 single base substitution C T intron_variant MELA-AU 12 41838242 41838242 single base substitution C T intron_variant MELA-AU 12 41838392 41838392 single base substitution C T intron_variant MELA-AU 12 41838499 41838499 single base substitution C T intron_variant MELA-AU 12 41839048 41839048 single base substitution G T intron_variant MELA-AU 12 41839253 41839253 single base substitution G A intron_variant MELA-AU 12 41839267 41839267 single base substitution C T intron_variant MELA-AU 12 41839972 41839972 single base substitution G A intron_variant MELA-AU 12 41840054 41840054 single base substitution T C intron_variant MELA-AU 12 41840060 41840060 single base substitution T A intron_variant MELA-AU 12 41840200 41840200 single base substitution G A intron_variant MELA-AU 12 41840563 41840563 single base substitution C T intron_variant MELA-AU 12 41840912 41840912 single base substitution C T intron_variant MELA-AU 12 41841054 41841054 single base substitution C T intron_variant MELA-AU 12 41841404 41841404 single base substitution G A intron_variant MELA-AU 12 41841427 41841427 single base substitution C T intron_variant MELA-AU 12 41841618 41841618 single base substitution C T intron_variant MELA-AU 12 41841729 41841729 single base substitution G A intron_variant MELA-AU 12 41841778 41841778 single base substitution C T intron_variant MELA-AU 12 41841893 41841893 single base substitution G A intron_variant MELA-AU 12 41841896 41841896 single base substitution C T intron_variant MELA-AU 12 41841959 41841959 single base substitution C T intron_variant MELA-AU 12 41842015 41842015 single base substitution C T intron_variant MELA-AU 12 41842215 41842215 single base substitution T A intron_variant MELA-AU 12 41842232 41842232 single base substitution G A intron_variant MELA-AU 12 41842515 41842515 single base substitution T C intron_variant MELA-AU 12 41842688 41842688 single base substitution C T intron_variant MELA-AU 12 41842954 41842954 single base substitution C T intron_variant MELA-AU 12 41843028 41843028 single base substitution C T intron_variant MELA-AU 12 41843057 41843057 single base substitution C T intron_variant MELA-AU 12 41843099 41843099 single base substitution C T intron_variant MELA-AU 12 41843253 41843253 single base substitution G A intron_variant MELA-AU 12 41843276 41843276 single base substitution G A intron_variant MELA-AU 12 41843580 41843580 single base substitution C T intron_variant MELA-AU 12 41843796 41843796 single base substitution G A intron_variant MELA-AU 12 41843876 41843876 single base substitution C T intron_variant MELA-AU 12 41844203 41844203 single base substitution C T intron_variant MELA-AU 12 41844471 41844471 single base substitution C T intron_variant MELA-AU 12 41844499 41844499 single base substitution G A intron_variant MELA-AU 12 41845335 41845335 single base substitution T A intron_variant MELA-AU 12 41845522 41845522 single base substitution G A intron_variant MELA-AU 12 41845810 41845810 single base substitution T C intron_variant MELA-AU 12 41845954 41845954 single base substitution A G intron_variant MELA-AU 12 41846050 41846050 single base substitution T C intron_variant MELA-AU 12 41846140 41846140 single base substitution C T intron_variant MELA-AU 12 41846234 41846234 single base substitution C T intron_variant MELA-AU 12 41846251 41846251 single base substitution A G intron_variant MELA-AU 12 41846579 41846579 single base substitution C T intron_variant MELA-AU 12 41846597 41846597 single base substitution C T intron_variant MELA-AU 12 41846907 41846907 single base substitution C T intron_variant MELA-AU 12 41847025 41847025 single base substitution G A intron_variant MELA-AU 12 41847075 41847075 single base substitution C T intron_variant MELA-AU 12 41847327 41847327 single base substitution T G intron_variant MELA-AU 12 41847350 41847350 single base substitution A G intron_variant MELA-AU 12 41847511 41847511 single base substitution T A intron_variant MELA-AU 12 41847528 41847528 single base substitution G A intron_variant MELA-AU 12 41848032 41848032 single base substitution C T intron_variant MELA-AU 12 41848592 41848592 single base substitution G A intron_variant MELA-AU 12 41848593 41848593 single base substitution A C intron_variant MELA-AU 12 41848671 41848671 single base substitution G A intron_variant MELA-AU 12 41849250 41849250 single base substitution A T intron_variant MELA-AU 12 41849310 41849310 single base substitution C T intron_variant MELA-AU 12 41849314 41849314 single base substitution G A intron_variant MELA-AU 12 41849622 41849622 single base substitution T C intron_variant MELA-AU 12 41849833 41849833 single base substitution C T intron_variant MELA-AU 12 41850006 41850006 single base substitution C T intron_variant MELA-AU 12 41850111 41850111 single base substitution C T intron_variant MELA-AU 12 41850158 41850158 single base substitution T C intron_variant MELA-AU 12 41850249 41850249 single base substitution C T intron_variant MELA-AU 12 41850263 41850263 single base substitution G A intron_variant MELA-AU 12 41850359 41850359 single base substitution C T intron_variant MELA-AU 12 41850402 41850402 single base substitution G A intron_variant MELA-AU 12 41850441 41850441 single base substitution G A intron_variant MELA-AU 12 41850583 41850583 single base substitution G A intron_variant MELA-AU 12 41850677 41850677 single base substitution G A intron_variant MELA-AU 12 41850851 41850851 single base substitution C T intron_variant MELA-AU 12 41850852 41850852 single base substitution C T intron_variant MELA-AU 12 41850870 41850870 single base substitution C T intron_variant MELA-AU 12 41850966 41850967 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41851037 41851037 single base substitution C T intron_variant MELA-AU 12 41851228 41851228 single base substitution G A intron_variant MELA-AU 12 41851380 41851380 single base substitution A T intron_variant MELA-AU 12 41851559 41851559 single base substitution A G intron_variant MELA-AU 12 41851629 41851629 single base substitution A T intron_variant MELA-AU 12 41851798 41851798 single base substitution G A intron_variant MELA-AU 12 41851936 41851936 single base substitution G T intron_variant MELA-AU 12 41851982 41851982 single base substitution G A intron_variant MELA-AU 12 41852029 41852029 single base substitution G A intron_variant MELA-AU 12 41852248 41852248 single base substitution C T intron_variant MELA-AU 12 41852375 41852375 single base substitution G A intron_variant MELA-AU 12 41852664 41852664 single base substitution G A intron_variant MELA-AU 12 41852685 41852685 single base substitution G A intron_variant MELA-AU 12 41852827 41852827 single base substitution G A intron_variant MELA-AU 12 41852854 41852854 single base substitution C T intron_variant MELA-AU 12 41853128 41853128 single base substitution A C intron_variant MELA-AU 12 41853149 41853149 single base substitution C T intron_variant MELA-AU 12 41853501 41853501 single base substitution A G intron_variant MELA-AU 12 41853638 41853638 single base substitution G A intron_variant MELA-AU 12 41853877 41853877 single base substitution A G intron_variant MELA-AU 12 41853877 41853877 single base substitution A G splice_region_variant MELA-AU 12 41854278 41854278 single base substitution G A intron_variant MELA-AU 12 41854303 41854303 single base substitution G A intron_variant MELA-AU 12 41855502 41855502 single base substitution C T intron_variant MELA-AU 12 41855524 41855524 single base substitution G C intron_variant MELA-AU 12 41855761 41855761 single base substitution G A intron_variant MELA-AU 12 41855865 41855865 single base substitution G A intron_variant MELA-AU 12 41855978 41855978 single base substitution G A intron_variant MELA-AU 12 41856487 41856487 deletion of <=200bp A - intron_variant MELA-AU 12 41856759 41856759 single base substitution G A intron_variant MELA-AU 12 41856838 41856839 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 12 41856987 41856987 single base substitution C T intron_variant MELA-AU 12 41857090 41857090 single base substitution C G intron_variant MELA-AU 12 41857211 41857211 single base substitution G A intron_variant MELA-AU 12 41857221 41857221 single base substitution G A intron_variant MELA-AU 12 41857642 41857642 single base substitution G A intron_variant MELA-AU 12 41857986 41857986 single base substitution G A intron_variant MELA-AU 12 41857996 41857996 single base substitution G A intron_variant MELA-AU 12 41858204 41858204 single base substitution C T intron_variant MELA-AU 12 41858255 41858255 single base substitution G A intron_variant MELA-AU 12 41858520 41858520 single base substitution T A intron_variant MELA-AU 12 41858804 41858804 single base substitution T A intron_variant MELA-AU 12 41859014 41859014 single base substitution A C intron_variant MELA-AU 12 41859102 41859102 single base substitution G A intron_variant MELA-AU 12 41859889 41859889 single base substitution G A intron_variant MELA-AU 12 41860056 41860056 single base substitution C T intron_variant MELA-AU 12 41860206 41860206 single base substitution T G intron_variant MELA-AU 12 41860256 41860256 single base substitution G A intron_variant MELA-AU 12 41860679 41860679 single base substitution A T intron_variant MELA-AU 12 41861110 41861110 single base substitution T A intron_variant MELA-AU 12 41861332 41861332 single base substitution G A intron_variant MELA-AU 12 41861362 41861362 single base substitution G T intron_variant MELA-AU 12 41861581 41861582 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41861770 41861770 single base substitution C T intron_variant MELA-AU 12 41861880 41861880 single base substitution G A intron_variant MELA-AU 12 41862015 41862015 single base substitution G A intron_variant MELA-AU 12 41862177 41862177 single base substitution T A intron_variant MELA-AU 12 41862328 41862328 single base substitution C T intron_variant MELA-AU 12 41862392 41862392 single base substitution C T intron_variant MELA-AU 12 41862760 41862760 single base substitution G A intron_variant MELA-AU 12 41862955 41862955 single base substitution G A intron_variant MELA-AU 12 41862957 41862957 single base substitution G A intron_variant MELA-AU 12 41862988 41862988 single base substitution A C intron_variant MELA-AU 12 41863003 41863003 single base substitution T A intron_variant MELA-AU 12 41863350 41863350 single base substitution C T intron_variant MELA-AU 12 41863369 41863369 single base substitution C T intron_variant MELA-AU 12 41863377 41863377 single base substitution T C intron_variant MELA-AU 12 41863516 41863516 single base substitution G A intron_variant MELA-AU 12 41863529 41863529 single base substitution C T intron_variant MELA-AU 12 41863576 41863576 single base substitution A G intron_variant MELA-AU 12 41863701 41863701 single base substitution C T intron_variant MELA-AU 12 41864107 41864107 single base substitution C T intron_variant MELA-AU 12 41864444 41864444 single base substitution C T intron_variant MELA-AU 12 41865025 41865025 single base substitution G A intron_variant MELA-AU 12 41865142 41865142 single base substitution G A intron_variant MELA-AU 12 41865152 41865152 single base substitution G A intron_variant MELA-AU 12 41865235 41865235 single base substitution G A intron_variant MELA-AU 12 41865331 41865331 single base substitution T C intron_variant MELA-AU 12 41865395 41865395 single base substitution C T intron_variant MELA-AU 12 41865470 41865470 single base substitution A C intron_variant MELA-AU 12 41865622 41865622 single base substitution A G intron_variant MELA-AU 12 41865776 41865776 single base substitution G A intron_variant MELA-AU 12 41866062 41866062 single base substitution C T intron_variant MELA-AU 12 41866269 41866269 single base substitution C T intron_variant MELA-AU 12 41866801 41866801 single base substitution G A intron_variant MELA-AU 12 41867198 41867198 single base substitution C T intron_variant MELA-AU 12 41867243 41867243 single base substitution C T intron_variant MELA-AU 12 41867295 41867295 single base substitution G A intron_variant MELA-AU 12 41867564 41867564 single base substitution C T intron_variant MELA-AU 12 41867832 41867832 single base substitution C T intron_variant MELA-AU 12 41868164 41868164 single base substitution T C intron_variant MELA-AU 12 41868292 41868292 single base substitution C T intron_variant MELA-AU 12 41868373 41868373 single base substitution T A intron_variant MELA-AU 12 41868724 41868724 single base substitution G A intron_variant MELA-AU 12 41868975 41868975 single base substitution A T intron_variant MELA-AU 12 41869248 41869248 single base substitution G A intron_variant MELA-AU 12 41869480 41869480 single base substitution T A intron_variant MELA-AU 12 41869651 41869651 single base substitution C T intron_variant MELA-AU 12 41869821 41869821 single base substitution C T intron_variant MELA-AU 12 41870168 41870168 single base substitution G A intron_variant MELA-AU 12 41870352 41870352 single base substitution G A intron_variant MELA-AU 12 41870545 41870545 single base substitution C T intron_variant MELA-AU 12 41870594 41870594 single base substitution C T intron_variant MELA-AU 12 41871084 41871084 single base substitution C T intron_variant MELA-AU 12 41871161 41871161 single base substitution G A intron_variant MELA-AU 12 41871365 41871365 single base substitution C T intron_variant MELA-AU 12 41871366 41871366 single base substitution C T intron_variant MELA-AU 12 41871367 41871367 single base substitution T C intron_variant MELA-AU 12 41871630 41871630 single base substitution G A intron_variant MELA-AU 12 41871645 41871645 single base substitution G A intron_variant MELA-AU 12 41871991 41871991 single base substitution C T intron_variant MELA-AU 12 41872286 41872286 single base substitution C T intron_variant MELA-AU 12 41872345 41872345 single base substitution C T intron_variant MELA-AU 12 41872517 41872517 single base substitution A T intron_variant MELA-AU 12 41872747 41872747 single base substitution G A intron_variant MELA-AU 12 41873084 41873084 single base substitution G A intron_variant MELA-AU 12 41873191 41873191 single base substitution C T intron_variant MELA-AU 12 41873217 41873217 single base substitution G T intron_variant MELA-AU 12 41873244 41873244 single base substitution C T intron_variant MELA-AU 12 41873608 41873608 single base substitution G A intron_variant MELA-AU 12 41873609 41873609 single base substitution G A intron_variant MELA-AU 12 41873656 41873656 single base substitution C T intron_variant MELA-AU 12 41873854 41873854 single base substitution T A intron_variant MELA-AU 12 41873993 41873993 single base substitution C T intron_variant MELA-AU 12 41874064 41874064 single base substitution C T intron_variant MELA-AU 12 41874213 41874213 single base substitution G A intron_variant MELA-AU 12 41875279 41875279 single base substitution C T intron_variant MELA-AU 12 41875294 41875294 single base substitution G A intron_variant MELA-AU 12 41875367 41875367 single base substitution C T intron_variant MELA-AU 12 41875465 41875465 single base substitution G A intron_variant MELA-AU 12 41875718 41875718 single base substitution G A intron_variant MELA-AU 12 41875815 41875815 single base substitution G A intron_variant MELA-AU 12 41875951 41875951 single base substitution C T intron_variant MELA-AU 12 41876038 41876039 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 12 41876050 41876050 single base substitution C T intron_variant MELA-AU 12 41876213 41876213 single base substitution G A intron_variant MELA-AU 12 41876297 41876308 deletion of <=200bp ATTAAGTACTTA - intron_variant MELA-AU 12 41876306 41876306 single base substitution T C intron_variant MELA-AU 12 41876391 41876391 single base substitution C T intron_variant MELA-AU 12 41876508 41876508 single base substitution C T intron_variant MELA-AU 12 41876566 41876566 single base substitution G A intron_variant MELA-AU 12 41876642 41876642 single base substitution T C intron_variant MELA-AU 12 41876681 41876681 single base substitution G A intron_variant MELA-AU 12 41876695 41876695 single base substitution C T intron_variant MELA-AU 12 41876718 41876718 single base substitution A G intron_variant MELA-AU 12 41876803 41876803 single base substitution C T intron_variant MELA-AU 12 41876809 41876809 single base substitution G A intron_variant MELA-AU 12 41877176 41877176 single base substitution G A intron_variant MELA-AU 12 41877219 41877219 single base substitution C T intron_variant MELA-AU 12 41877540 41877540 single base substitution C T intron_variant MELA-AU 12 41877641 41877641 single base substitution C T intron_variant MELA-AU 12 41877759 41877759 single base substitution C T intron_variant MELA-AU 12 41877789 41877789 single base substitution G A intron_variant MELA-AU 12 41877972 41877972 single base substitution G A intron_variant MELA-AU 12 41877982 41877982 single base substitution C T intron_variant MELA-AU 12 41878153 41878153 single base substitution A G intron_variant MELA-AU 12 41878309 41878309 single base substitution C T intron_variant MELA-AU 12 41878457 41878457 single base substitution A G intron_variant MELA-AU 12 41878459 41878459 single base substitution C T intron_variant MELA-AU 12 41878504 41878505 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 12 41878629 41878629 single base substitution C T intron_variant MELA-AU 12 41878664 41878664 single base substitution G A intron_variant MELA-AU 12 41879006 41879006 single base substitution G A intron_variant MELA-AU 12 41879176 41879176 single base substitution C T intron_variant MELA-AU 12 41879359 41879359 single base substitution C T intron_variant MELA-AU 12 41879360 41879360 single base substitution C T intron_variant MELA-AU 12 41879411 41879411 single base substitution G A intron_variant MELA-AU 12 41879572 41879572 single base substitution C T intron_variant MELA-AU 12 41880043 41880043 single base substitution C T intron_variant MELA-AU 12 41880071 41880071 single base substitution C T intron_variant MELA-AU 12 41880104 41880104 single base substitution G A intron_variant MELA-AU 12 41880373 41880373 single base substitution G A intron_variant MELA-AU 12 41880538 41880538 single base substitution G A intron_variant MELA-AU 12 41880588 41880588 single base substitution C T intron_variant MELA-AU 12 41880589 41880589 single base substitution G A intron_variant MELA-AU 12 41880593 41880593 single base substitution C T intron_variant MELA-AU 12 41880714 41880714 single base substitution C T intron_variant MELA-AU 12 41880716 41880716 single base substitution C T intron_variant MELA-AU 12 41880839 41880839 single base substitution C T intron_variant MELA-AU 12 41880846 41880846 single base substitution C T intron_variant MELA-AU 12 41880897 41880897 single base substitution A G intron_variant MELA-AU 12 41880903 41880903 single base substitution C T intron_variant MELA-AU 12 41881089 41881089 single base substitution G A intron_variant MELA-AU 12 41881096 41881096 single base substitution G A intron_variant MELA-AU 12 41881099 41881100 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41881134 41881134 single base substitution C T intron_variant MELA-AU 12 41881143 41881143 single base substitution C T intron_variant MELA-AU 12 41881650 41881650 single base substitution C T intron_variant MELA-AU 12 41882437 41882437 single base substitution C T intron_variant MELA-AU 12 41882484 41882484 single base substitution G A intron_variant MELA-AU 12 41882556 41882556 single base substitution C T intron_variant MELA-AU 12 41882600 41882600 single base substitution G A intron_variant MELA-AU 12 41882824 41882825 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41882846 41882846 single base substitution C T intron_variant MELA-AU 12 41882950 41882950 single base substitution G A intron_variant MELA-AU 12 41883062 41883062 single base substitution G A intron_variant MELA-AU 12 41883216 41883216 single base substitution A T intron_variant MELA-AU 12 41883226 41883226 single base substitution A G intron_variant MELA-AU 12 41883245 41883245 single base substitution G A intron_variant MELA-AU 12 41883271 41883271 single base substitution C T intron_variant MELA-AU 12 41883567 41883567 single base substitution C T intron_variant MELA-AU 12 41883601 41883601 single base substitution A T intron_variant MELA-AU 12 41883771 41883771 single base substitution C T intron_variant MELA-AU 12 41884286 41884286 single base substitution C T intron_variant MELA-AU 12 41884287 41884287 single base substitution G A intron_variant MELA-AU 12 41884510 41884510 single base substitution C T intron_variant MELA-AU 12 41884543 41884543 single base substitution G A intron_variant MELA-AU 12 41884759 41884759 single base substitution C A intron_variant MELA-AU 12 41884938 41884938 single base substitution C T intron_variant MELA-AU 12 41885018 41885018 single base substitution G A intron_variant MELA-AU 12 41885040 41885041 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41885540 41885540 single base substitution G A intron_variant MELA-AU 12 41885733 41885733 single base substitution T A intron_variant MELA-AU 12 41886034 41886034 single base substitution T C intron_variant MELA-AU 12 41886079 41886079 single base substitution T C intron_variant MELA-AU 12 41886143 41886143 single base substitution C T intron_variant MELA-AU 12 41886215 41886215 single base substitution G A intron_variant MELA-AU 12 41886530 41886530 single base substitution C T intron_variant MELA-AU 12 41886567 41886567 single base substitution C T intron_variant MELA-AU 12 41886693 41886693 single base substitution G A intron_variant MELA-AU 12 41886785 41886785 single base substitution G A intron_variant MELA-AU 12 41886793 41886793 single base substitution T A intron_variant MELA-AU 12 41886891 41886891 single base substitution G A intron_variant MELA-AU 12 41887270 41887270 single base substitution G A intron_variant MELA-AU 12 41887446 41887446 single base substitution C T intron_variant MELA-AU 12 41887484 41887484 single base substitution G T intron_variant MELA-AU 12 41887712 41887712 single base substitution G A intron_variant MELA-AU 12 41887933 41887933 single base substitution A G intron_variant MELA-AU 12 41888116 41888116 single base substitution C T intron_variant MELA-AU 12 41888300 41888300 single base substitution G A intron_variant MELA-AU 12 41888445 41888445 single base substitution T A intron_variant MELA-AU 12 41888501 41888501 single base substitution G A intron_variant MELA-AU 12 41888673 41888673 single base substitution G A intron_variant MELA-AU 12 41888873 41888873 single base substitution C T intron_variant MELA-AU 12 41888901 41888901 single base substitution G A intron_variant MELA-AU 12 41889288 41889288 single base substitution G A intron_variant MELA-AU 12 41889314 41889314 single base substitution C T intron_variant MELA-AU 12 41889320 41889320 single base substitution C T intron_variant MELA-AU 12 41889321 41889321 single base substitution C T intron_variant MELA-AU 12 41889373 41889373 single base substitution C T intron_variant MELA-AU 12 41889405 41889405 single base substitution C T intron_variant MELA-AU 12 41889601 41889601 single base substitution C T intron_variant MELA-AU 12 41889833 41889833 single base substitution C T intron_variant MELA-AU 12 41890126 41890126 single base substitution G A intron_variant MELA-AU 12 41890160 41890160 single base substitution G C intron_variant MELA-AU 12 41890254 41890254 single base substitution G A intron_variant MELA-AU 12 41890544 41890544 single base substitution C T intron_variant MELA-AU 12 41890830 41890830 single base substitution C T intron_variant MELA-AU 12 41890972 41890972 single base substitution G A intron_variant MELA-AU 12 41891105 41891105 single base substitution C T intron_variant MELA-AU 12 41891563 41891563 single base substitution T C intron_variant MELA-AU 12 41892949 41892949 single base substitution G A intron_variant MELA-AU 12 41893002 41893002 single base substitution C T intron_variant MELA-AU 12 41893085 41893085 single base substitution G A intron_variant MELA-AU 12 41893139 41893139 single base substitution C T intron_variant MELA-AU 12 41893155 41893155 single base substitution G A intron_variant MELA-AU 12 41893422 41893422 single base substitution G A intron_variant MELA-AU 12 41893536 41893536 single base substitution G A intron_variant MELA-AU 12 41893928 41893928 single base substitution A C intron_variant MELA-AU 12 41893984 41893984 single base substitution G A intron_variant MELA-AU 12 41894017 41894017 single base substitution T C intron_variant MELA-AU 12 41894116 41894116 single base substitution G A intron_variant MELA-AU 12 41894117 41894117 single base substitution G A intron_variant MELA-AU 12 41894183 41894183 single base substitution G A intron_variant MELA-AU 12 41894238 41894238 single base substitution C T intron_variant MELA-AU 12 41894421 41894421 single base substitution C T intron_variant MELA-AU 12 41895210 41895210 single base substitution C T intron_variant MELA-AU 12 41895308 41895308 single base substitution C T intron_variant MELA-AU 12 41895494 41895494 single base substitution G A intron_variant MELA-AU 12 41895685 41895685 single base substitution T G intron_variant MELA-AU 12 41895838 41895838 single base substitution C T intron_variant MELA-AU 12 41896237 41896237 single base substitution C T intron_variant MELA-AU 12 41896334 41896334 single base substitution C T intron_variant MELA-AU 12 41896397 41896398 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41896572 41896572 single base substitution G A intron_variant MELA-AU 12 41897062 41897062 single base substitution G A intron_variant MELA-AU 12 41897439 41897439 single base substitution C T intron_variant MELA-AU 12 41897635 41897635 single base substitution G A intron_variant MELA-AU 12 41898076 41898076 single base substitution T A intron_variant MELA-AU 12 41898380 41898380 single base substitution C T intron_variant MELA-AU 12 41898380 41898380 single base substitution C T upstream_gene_variant MELA-AU 12 41898509 41898509 single base substitution T G intron_variant MELA-AU 12 41898509 41898509 single base substitution T G upstream_gene_variant MELA-AU 12 41898613 41898613 single base substitution G A intron_variant MELA-AU 12 41898613 41898613 single base substitution G A upstream_gene_variant MELA-AU 12 41898668 41898668 single base substitution C T intron_variant MELA-AU 12 41898668 41898668 single base substitution C T upstream_gene_variant MELA-AU 12 41898707 41898707 single base substitution G A intron_variant MELA-AU 12 41898707 41898707 single base substitution G A upstream_gene_variant MELA-AU 12 41898954 41898954 single base substitution C T intron_variant MELA-AU 12 41898954 41898954 single base substitution C T upstream_gene_variant MELA-AU 12 41899048 41899048 single base substitution C T intron_variant MELA-AU 12 41899048 41899048 single base substitution C T upstream_gene_variant MELA-AU 12 41899150 41899150 single base substitution C T intron_variant MELA-AU 12 41899150 41899150 single base substitution C T upstream_gene_variant MELA-AU 12 41899418 41899419 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 12 41899418 41899419 multiple base substitution (>=2bp and <=200bp) CT TG upstream_gene_variant MELA-AU 12 41899467 41899467 single base substitution G A intron_variant MELA-AU 12 41899467 41899467 single base substitution G A upstream_gene_variant MELA-AU 12 41899585 41899585 single base substitution G A intron_variant MELA-AU 12 41899585 41899585 single base substitution G A upstream_gene_variant MELA-AU 12 41899653 41899653 single base substitution C T intron_variant MELA-AU 12 41899653 41899653 single base substitution C T upstream_gene_variant MELA-AU 12 41899682 41899682 single base substitution G A intron_variant MELA-AU 12 41899682 41899682 single base substitution G A upstream_gene_variant MELA-AU 12 41899756 41899756 single base substitution G A intron_variant MELA-AU 12 41899756 41899756 single base substitution G A upstream_gene_variant MELA-AU 12 41900046 41900046 single base substitution T A intron_variant MELA-AU 12 41900046 41900046 single base substitution T A upstream_gene_variant MELA-AU 12 41900527 41900527 single base substitution C T intron_variant MELA-AU 12 41900527 41900527 single base substitution C T upstream_gene_variant MELA-AU 12 41900532 41900532 single base substitution C T intron_variant MELA-AU 12 41900532 41900532 single base substitution C T upstream_gene_variant MELA-AU 12 41900634 41900634 single base substitution C T intron_variant MELA-AU 12 41900634 41900634 single base substitution C T upstream_gene_variant MELA-AU 12 41900833 41900833 single base substitution G A intron_variant MELA-AU 12 41900833 41900833 single base substitution G A upstream_gene_variant MELA-AU 12 41900918 41900918 single base substitution G A intron_variant MELA-AU 12 41900918 41900918 single base substitution G A upstream_gene_variant MELA-AU 12 41900968 41900968 single base substitution G A intron_variant MELA-AU 12 41900968 41900968 single base substitution G A upstream_gene_variant MELA-AU 12 41901191 41901191 single base substitution C T intron_variant MELA-AU 12 41901191 41901191 single base substitution C T upstream_gene_variant MELA-AU 12 41901420 41901420 single base substitution C T intron_variant MELA-AU 12 41901420 41901420 single base substitution C T upstream_gene_variant MELA-AU 12 41901676 41901676 single base substitution A G intron_variant MELA-AU 12 41901676 41901676 single base substitution A G upstream_gene_variant MELA-AU 12 41901952 41901952 single base substitution G A intron_variant MELA-AU 12 41901952 41901952 single base substitution G A upstream_gene_variant MELA-AU 12 41902204 41902204 single base substitution A G intron_variant MELA-AU 12 41902204 41902204 single base substitution A G upstream_gene_variant MELA-AU 12 41902363 41902363 single base substitution G A intron_variant MELA-AU 12 41902363 41902363 single base substitution G A upstream_gene_variant MELA-AU 12 41902370 41902370 single base substitution G A intron_variant MELA-AU 12 41902370 41902370 single base substitution G A upstream_gene_variant MELA-AU 12 41902569 41902569 single base substitution G C intron_variant MELA-AU 12 41902569 41902569 single base substitution G C upstream_gene_variant MELA-AU 12 41902884 41902884 single base substitution C T intron_variant MELA-AU 12 41902884 41902884 single base substitution C T upstream_gene_variant MELA-AU 12 41902980 41902980 single base substitution C T intron_variant MELA-AU 12 41902980 41902980 single base substitution C T upstream_gene_variant MELA-AU 12 41903410 41903410 single base substitution C A exon_variant MELA-AU 12 41903410 41903410 single base substitution C A intron_variant MELA-AU 12 41903469 41903469 single base substitution C T exon_variant MELA-AU 12 41903469 41903469 single base substitution C T intron_variant MELA-AU 12 41903563 41903563 single base substitution G A exon_variant MELA-AU 12 41903563 41903563 single base substitution G A intron_variant MELA-AU 12 41904124 41904124 single base substitution G A intron_variant MELA-AU 12 41904137 41904137 single base substitution C T intron_variant MELA-AU 12 41904657 41904657 single base substitution C T intron_variant MELA-AU 12 41904795 41904795 single base substitution C G intron_variant MELA-AU 12 41905118 41905118 single base substitution C T intron_variant MELA-AU 12 41905318 41905318 single base substitution C T intron_variant MELA-AU 12 41905373 41905373 single base substitution T C intron_variant MELA-AU 12 41906878 41906878 single base substitution C T intron_variant MELA-AU 12 41907292 41907292 single base substitution G A intron_variant MELA-AU 12 41907392 41907392 single base substitution C T intron_variant MELA-AU 12 41907442 41907442 single base substitution C A intron_variant MELA-AU 12 41907701 41907701 single base substitution G A intron_variant MELA-AU 12 41907810 41907810 single base substitution C T intron_variant MELA-AU 12 41908062 41908062 single base substitution G T intron_variant MELA-AU 12 41908063 41908063 single base substitution G A intron_variant MELA-AU 12 41908075 41908075 single base substitution C T intron_variant MELA-AU 12 41908206 41908206 single base substitution G T intron_variant MELA-AU 12 41908756 41908756 single base substitution C T intron_variant MELA-AU 12 41908874 41908874 single base substitution G A intron_variant MELA-AU 12 41909273 41909273 single base substitution G A intron_variant MELA-AU 12 41909456 41909456 single base substitution G A intron_variant MELA-AU 12 41909504 41909504 single base substitution C T intron_variant MELA-AU 12 41909821 41909821 single base substitution T G intron_variant MELA-AU 12 41911010 41911010 single base substitution C T intron_variant MELA-AU 12 41911048 41911048 single base substitution T A intron_variant MELA-AU 12 41911122 41911122 single base substitution T A intron_variant MELA-AU 12 41911184 41911184 single base substitution G T intron_variant MELA-AU 12 41911231 41911231 single base substitution C T intron_variant MELA-AU 12 41911456 41911456 single base substitution C A intron_variant MELA-AU 12 41911541 41911541 single base substitution C T intron_variant MELA-AU 12 41911798 41911798 single base substitution T A intron_variant MELA-AU 12 41911860 41911860 single base substitution G A intron_variant MELA-AU 12 41911892 41911892 single base substitution G A intron_variant MELA-AU 12 41911936 41911936 single base substitution G A intron_variant MELA-AU 12 41912081 41912081 single base substitution C T intron_variant MELA-AU 12 41912460 41912460 single base substitution C T intron_variant MELA-AU 12 41912661 41912661 single base substitution G A intron_variant MELA-AU 12 41912910 41912910 single base substitution T C intron_variant MELA-AU 12 41913457 41913457 single base substitution A T intron_variant MELA-AU 12 41914355 41914355 single base substitution G A intron_variant MELA-AU 12 41914406 41914406 single base substitution A G intron_variant MELA-AU 12 41914671 41914671 single base substitution G A intron_variant MELA-AU 12 41915036 41915036 single base substitution G A intron_variant MELA-AU 12 41915058 41915058 single base substitution C T intron_variant MELA-AU 12 41915772 41915772 single base substitution G A intron_variant MELA-AU 12 41916517 41916517 single base substitution C T intron_variant MELA-AU 12 41916695 41916695 single base substitution C T intron_variant MELA-AU 12 41916913 41916913 single base substitution C T intron_variant MELA-AU 12 41917052 41917052 single base substitution C T intron_variant MELA-AU 12 41917080 41917080 single base substitution C T intron_variant MELA-AU 12 41917098 41917098 single base substitution C T intron_variant MELA-AU 12 41917604 41917604 single base substitution G A intron_variant MELA-AU 12 41917870 41917870 single base substitution G A intron_variant MELA-AU 12 41918024 41918024 single base substitution G A intron_variant MELA-AU 12 41918051 41918051 single base substitution G A intron_variant MELA-AU 12 41918466 41918466 single base substitution G A intron_variant MELA-AU 12 41918513 41918513 single base substitution G A intron_variant MELA-AU 12 41918760 41918760 single base substitution G A intron_variant MELA-AU 12 41918873 41918873 single base substitution G A intron_variant MELA-AU 12 41918912 41918912 single base substitution G A intron_variant MELA-AU 12 41919550 41919550 single base substitution C T intron_variant MELA-AU 12 41919592 41919592 single base substitution G A intron_variant MELA-AU 12 41919778 41919778 single base substitution C A intron_variant MELA-AU 12 41919831 41919832 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41920095 41920095 single base substitution G A intron_variant MELA-AU 12 41920111 41920111 single base substitution T A intron_variant MELA-AU 12 41920932 41920932 single base substitution G A intron_variant MELA-AU 12 41921052 41921052 single base substitution G A intron_variant MELA-AU 12 41921127 41921127 single base substitution G A intron_variant MELA-AU 12 41921248 41921248 single base substitution G A intron_variant MELA-AU 12 41921947 41921947 single base substitution G A intron_variant MELA-AU 12 41922421 41922421 single base substitution A C intron_variant MELA-AU 12 41922821 41922821 single base substitution C T intron_variant MELA-AU 12 41923029 41923029 single base substitution G T intron_variant MELA-AU 12 41923031 41923031 single base substitution T G intron_variant MELA-AU 12 41923280 41923280 single base substitution C T intron_variant MELA-AU 12 41923711 41923711 single base substitution C T intron_variant MELA-AU 12 41923818 41923818 single base substitution T C intron_variant MELA-AU 12 41924009 41924009 single base substitution G A intron_variant MELA-AU 12 41924324 41924324 single base substitution C T intron_variant MELA-AU 12 41924459 41924459 single base substitution A G intron_variant MELA-AU 12 41924615 41924615 single base substitution C T intron_variant MELA-AU 12 41924981 41924981 single base substitution G A intron_variant MELA-AU 12 41924994 41924994 single base substitution G A intron_variant MELA-AU 12 41925050 41925050 single base substitution G A intron_variant MELA-AU 12 41925061 41925061 single base substitution C T intron_variant MELA-AU 12 41925270 41925270 single base substitution C T intron_variant MELA-AU 12 41925270 41925271 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41925288 41925288 single base substitution C T intron_variant MELA-AU 12 41925362 41925362 single base substitution G A intron_variant MELA-AU 12 41925384 41925384 single base substitution G A intron_variant MELA-AU 12 41925389 41925389 single base substitution G A intron_variant MELA-AU 12 41925448 41925448 single base substitution C T intron_variant MELA-AU 12 41925588 41925588 single base substitution G A intron_variant MELA-AU 12 41926015 41926015 single base substitution C T intron_variant MELA-AU 12 41926098 41926098 single base substitution C T intron_variant MELA-AU 12 41926126 41926126 single base substitution C T intron_variant MELA-AU 12 41926492 41926492 single base substitution C T intron_variant MELA-AU 12 41926696 41926696 single base substitution C T intron_variant MELA-AU 12 41926790 41926790 single base substitution C T intron_variant MELA-AU 12 41927040 41927040 single base substitution G A intron_variant MELA-AU 12 41927065 41927065 single base substitution C T intron_variant MELA-AU 12 41927100 41927100 single base substitution C T intron_variant MELA-AU 12 41927257 41927257 single base substitution G A intron_variant MELA-AU 12 41927390 41927390 single base substitution G A intron_variant MELA-AU 12 41927450 41927450 single base substitution T G intron_variant MELA-AU 12 41927683 41927683 single base substitution C T intron_variant MELA-AU 12 41927755 41927755 single base substitution T G intron_variant MELA-AU 12 41927902 41927902 single base substitution C T intron_variant MELA-AU 12 41927932 41927932 single base substitution C T intron_variant MELA-AU 12 41928208 41928208 single base substitution G A intron_variant MELA-AU 12 41928209 41928209 single base substitution G A intron_variant MELA-AU 12 41928567 41928567 single base substitution G A intron_variant MELA-AU 12 41928801 41928801 single base substitution C T intron_variant MELA-AU 12 41928939 41928939 single base substitution C T intron_variant MELA-AU 12 41929115 41929115 single base substitution G A intron_variant MELA-AU 12 41929264 41929264 single base substitution C T intron_variant MELA-AU 12 41929304 41929304 single base substitution A G intron_variant MELA-AU 12 41929310 41929310 single base substitution T A intron_variant MELA-AU 12 41929450 41929450 single base substitution G A intron_variant MELA-AU 12 41929490 41929490 single base substitution G A intron_variant MELA-AU 12 41929495 41929495 single base substitution G A intron_variant MELA-AU 12 41929542 41929542 single base substitution C T intron_variant MELA-AU 12 41929591 41929591 single base substitution G A intron_variant MELA-AU 12 41929644 41929644 single base substitution C T intron_variant MELA-AU 12 41929716 41929716 single base substitution C T intron_variant MELA-AU 12 41930141 41930141 single base substitution G A intron_variant MELA-AU 12 41930344 41930344 single base substitution A G intron_variant MELA-AU 12 41930841 41930841 single base substitution C T intron_variant MELA-AU 12 41931001 41931001 single base substitution G A intron_variant MELA-AU 12 41931042 41931042 single base substitution G A intron_variant MELA-AU 12 41931155 41931155 single base substitution C T intron_variant MELA-AU 12 41931224 41931224 single base substitution A T intron_variant MELA-AU 12 41931229 41931229 single base substitution G A intron_variant MELA-AU 12 41931272 41931272 single base substitution G A intron_variant MELA-AU 12 41931563 41931563 single base substitution G C intron_variant MELA-AU 12 41931888 41931888 single base substitution C T intron_variant MELA-AU 12 41931908 41931908 single base substitution G A intron_variant MELA-AU 12 41932178 41932178 single base substitution C T intron_variant MELA-AU 12 41932432 41932432 single base substitution G A intron_variant MELA-AU 12 41932434 41932434 single base substitution A T intron_variant MELA-AU 12 41932671 41932671 single base substitution A T intron_variant MELA-AU 12 41932736 41932736 single base substitution C T intron_variant MELA-AU 12 41932779 41932779 single base substitution G T intron_variant MELA-AU 12 41932994 41932994 single base substitution C T intron_variant MELA-AU 12 41933085 41933085 single base substitution G A intron_variant MELA-AU 12 41933539 41933539 single base substitution G A intron_variant MELA-AU 12 41933562 41933562 single base substitution T A intron_variant MELA-AU 12 41933843 41933843 single base substitution G A intron_variant MELA-AU 12 41933978 41933978 single base substitution G A intron_variant MELA-AU 12 41934152 41934152 single base substitution G A intron_variant MELA-AU 12 41934232 41934232 single base substitution G A intron_variant MELA-AU 12 41934248 41934248 single base substitution C T intron_variant MELA-AU 12 41934615 41934615 single base substitution C T intron_variant MELA-AU 12 41934743 41934743 single base substitution C T intron_variant MELA-AU 12 41934790 41934790 single base substitution G A intron_variant MELA-AU 12 41935133 41935133 single base substitution G A intron_variant MELA-AU 12 41935485 41935485 single base substitution G A intron_variant MELA-AU 12 41935580 41935580 single base substitution C T intron_variant MELA-AU 12 41935610 41935610 single base substitution G A intron_variant MELA-AU 12 41935887 41935887 single base substitution A G intron_variant MELA-AU 12 41936000 41936000 single base substitution G A intron_variant MELA-AU 12 41936008 41936008 single base substitution G C intron_variant MELA-AU 12 41936238 41936238 single base substitution C T intron_variant MELA-AU 12 41936308 41936308 single base substitution G A intron_variant MELA-AU 12 41936376 41936376 single base substitution C T intron_variant MELA-AU 12 41936580 41936580 single base substitution C T intron_variant MELA-AU 12 41936878 41936878 single base substitution C T intron_variant MELA-AU 12 41937064 41937064 single base substitution G A intron_variant MELA-AU 12 41937119 41937119 single base substitution C T intron_variant MELA-AU 12 41937319 41937319 single base substitution C A intron_variant MELA-AU 12 41937332 41937332 single base substitution G A intron_variant MELA-AU 12 41937369 41937369 single base substitution C T intron_variant MELA-AU 12 41937507 41937507 single base substitution C T intron_variant MELA-AU 12 41937896 41937896 single base substitution C T intron_variant MELA-AU 12 41938214 41938214 single base substitution C T intron_variant MELA-AU 12 41938391 41938391 single base substitution G A intron_variant MELA-AU 12 41938730 41938730 single base substitution C T intron_variant MELA-AU 12 41938995 41938995 single base substitution C T intron_variant MELA-AU 12 41939282 41939282 single base substitution C T intron_variant MELA-AU 12 41939409 41939409 single base substitution G A intron_variant MELA-AU 12 41939505 41939505 single base substitution C T intron_variant MELA-AU 12 41939559 41939559 single base substitution G A intron_variant MELA-AU 12 41939576 41939576 single base substitution G A intron_variant MELA-AU 12 41939592 41939592 single base substitution C T intron_variant MELA-AU 12 41939937 41939937 single base substitution G A intron_variant MELA-AU 12 41940264 41940264 single base substitution C T intron_variant MELA-AU 12 41940281 41940281 single base substitution G A intron_variant MELA-AU 12 41940560 41940560 single base substitution C T intron_variant MELA-AU 12 41940561 41940561 single base substitution G A intron_variant MELA-AU 12 41940739 41940739 single base substitution C T intron_variant MELA-AU 12 41940878 41940878 single base substitution G A intron_variant MELA-AU 12 41940984 41940984 single base substitution G T intron_variant MELA-AU 12 41941139 41941139 single base substitution G A intron_variant MELA-AU 12 41941657 41941658 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 41941758 41941758 single base substitution G A intron_variant MELA-AU 12 41941800 41941800 single base substitution G A intron_variant MELA-AU 12 41941999 41941999 single base substitution C T intron_variant MELA-AU 12 41942101 41942101 single base substitution C T intron_variant MELA-AU 12 41942646 41942646 single base substitution C T intron_variant MELA-AU 12 41942683 41942683 single base substitution C T intron_variant MELA-AU 12 41942953 41942953 single base substitution G A intron_variant MELA-AU 12 41943128 41943128 single base substitution T C intron_variant MELA-AU 12 41943153 41943153 single base substitution C T intron_variant MELA-AU 12 41943434 41943434 single base substitution C G intron_variant MELA-AU 12 41943525 41943525 single base substitution C T intron_variant MELA-AU 12 41943869 41943869 single base substitution G A intron_variant MELA-AU 12 41943892 41943892 single base substitution C T intron_variant MELA-AU 12 41943981 41943981 single base substitution G A intron_variant MELA-AU 12 41944116 41944116 single base substitution T A intron_variant MELA-AU 12 41944143 41944143 single base substitution G A intron_variant MELA-AU 12 41944157 41944157 single base substitution C T intron_variant MELA-AU 12 41944244 41944244 single base substitution C T intron_variant MELA-AU 12 41944387 41944387 single base substitution G A intron_variant MELA-AU 12 41944496 41944496 single base substitution C T intron_variant MELA-AU 12 41944544 41944544 single base substitution G A intron_variant MELA-AU 12 41944849 41944849 single base substitution G A intron_variant MELA-AU 12 41945022 41945022 single base substitution G A intron_variant MELA-AU 12 41945058 41945058 single base substitution G A intron_variant MELA-AU 12 41945068 41945068 single base substitution C T intron_variant MELA-AU 12 41945273 41945273 single base substitution C T intron_variant MELA-AU 12 41945457 41945457 single base substitution G A intron_variant MELA-AU 12 41945576 41945576 single base substitution C T intron_variant MELA-AU 12 41945586 41945586 single base substitution G T intron_variant MELA-AU 12 41945681 41945681 single base substitution G A intron_variant MELA-AU 12 41945725 41945725 single base substitution G A intron_variant MELA-AU 12 41945904 41945904 single base substitution G A intron_variant MELA-AU 12 41946035 41946035 single base substitution A C intron_variant MELA-AU 12 41946111 41946111 single base substitution T G intron_variant MELA-AU 12 41946284 41946284 single base substitution C T intron_variant MELA-AU 12 41946563 41946563 single base substitution A T splice_region_variant MELA-AU 12 41946786 41946786 single base substitution G A intron_variant MELA-AU 12 41947048 41947048 single base substitution G A intron_variant MELA-AU 12 41947167 41947167 single base substitution G A intron_variant MELA-AU 12 41947170 41947170 single base substitution G A intron_variant MELA-AU 12 41947320 41947320 single base substitution C T intron_variant MELA-AU 12 41947428 41947428 single base substitution C T intron_variant MELA-AU 12 41947465 41947465 single base substitution C T intron_variant MELA-AU 12 41947494 41947494 single base substitution G A intron_variant MELA-AU 12 41947875 41947875 single base substitution G A intron_variant MELA-AU 12 41947894 41947894 single base substitution A T intron_variant MELA-AU 12 41948525 41948525 single base substitution C T intron_variant MELA-AU 12 41948564 41948564 single base substitution C T intron_variant MELA-AU 12 41948731 41948732 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 41948812 41948812 single base substitution C T intron_variant MELA-AU 12 41948816 41948816 single base substitution C T intron_variant MELA-AU 12 41948925 41948925 single base substitution C T intron_variant MELA-AU 12 41948982 41948982 single base substitution G A intron_variant MELA-AU 12 41949012 41949012 single base substitution G A intron_variant MELA-AU 12 41949114 41949114 single base substitution C T intron_variant MELA-AU 12 41949273 41949273 single base substitution T A intron_variant MELA-AU 12 41949394 41949394 single base substitution G A intron_variant MELA-AU 12 41949463 41949463 single base substitution C T intron_variant MELA-AU 12 41949579 41949579 single base substitution T C intron_variant MELA-AU 12 41949863 41949863 single base substitution C T intron_variant MELA-AU 12 41949956 41949956 single base substitution G A intron_variant MELA-AU 12 41950231 41950231 single base substitution C T intron_variant MELA-AU 12 41950634 41950634 single base substitution C T intron_variant MELA-AU 12 41950835 41950835 single base substitution C T intron_variant MELA-AU 12 41950861 41950861 single base substitution G A intron_variant MELA-AU 12 41951412 41951412 single base substitution C T intron_variant MELA-AU 12 41951415 41951415 single base substitution G A intron_variant MELA-AU 12 41951436 41951436 single base substitution C T intron_variant MELA-AU 12 41951568 41951568 single base substitution C T intron_variant MELA-AU 12 41951605 41951605 single base substitution C T intron_variant MELA-AU 12 41951924 41951924 single base substitution G A intron_variant MELA-AU 12 41952031 41952031 single base substitution C T intron_variant MELA-AU 12 41952244 41952244 single base substitution C T intron_variant MELA-AU 12 41952268 41952268 single base substitution C T intron_variant MELA-AU 12 41952627 41952627 single base substitution G A intron_variant MELA-AU 12 41952633 41952633 single base substitution G A intron_variant MELA-AU 12 41952669 41952669 single base substitution C T intron_variant MELA-AU 12 41952741 41952741 single base substitution C T intron_variant MELA-AU 12 41953193 41953193 single base substitution G A intron_variant MELA-AU 12 41953293 41953293 single base substitution C T intron_variant MELA-AU 12 41953297 41953297 single base substitution G A intron_variant MELA-AU 12 41953485 41953485 single base substitution C T intron_variant MELA-AU 12 41953693 41953693 single base substitution C T intron_variant MELA-AU 12 41953959 41953959 single base substitution C T intron_variant MELA-AU 12 41953974 41953974 single base substitution C T intron_variant MELA-AU 12 41953997 41953997 single base substitution G A intron_variant MELA-AU 12 41954172 41954172 single base substitution A G intron_variant MELA-AU 12 41954231 41954231 single base substitution C T intron_variant MELA-AU 12 41954271 41954271 single base substitution C T intron_variant MELA-AU 12 41954366 41954366 single base substitution C T intron_variant MELA-AU 12 41954377 41954377 single base substitution C T intron_variant MELA-AU 12 41954704 41954704 single base substitution T C intron_variant MELA-AU 12 41954757 41954757 single base substitution G T intron_variant MELA-AU 12 41954822 41954822 single base substitution G A intron_variant MELA-AU 12 41954842 41954842 single base substitution G A intron_variant MELA-AU 12 41954858 41954858 single base substitution G A intron_variant MELA-AU 12 41954869 41954869 single base substitution C T intron_variant MELA-AU 12 41954954 41954954 single base substitution C T intron_variant MELA-AU 12 41955920 41955920 single base substitution G A intron_variant MELA-AU 12 41955940 41955940 single base substitution T A intron_variant MELA-AU 12 41956067 41956067 single base substitution G A intron_variant MELA-AU 12 41956336 41956336 single base substitution G A intron_variant MELA-AU 12 41956443 41956443 single base substitution G A intron_variant MELA-AU 12 41956591 41956591 single base substitution G A intron_variant MELA-AU 12 41956604 41956604 single base substitution T G intron_variant MELA-AU 12 41956663 41956663 single base substitution T C intron_variant MELA-AU 12 41956970 41956970 single base substitution C T intron_variant MELA-AU 12 41956996 41956996 single base substitution C T intron_variant MELA-AU 12 41957099 41957114 deletion of <=200bp GCCAGGGCGCAGGTTG - intron_variant MELA-AU 12 41957163 41957163 single base substitution G A intron_variant MELA-AU 12 41957404 41957404 single base substitution G A exon_variant MELA-AU 12 41957404 41957404 single base substitution G A missense_variant D214N 640G>A MELA-AU 12 41957404 41957404 single base substitution G A missense_variant D216N 646G>A MELA-AU 12 41957404 41957404 single base substitution G A missense_variant D474N 1420G>A MELA-AU 12 41957535 41957535 single base substitution C T intron_variant MELA-AU 12 41957609 41957609 single base substitution G A intron_variant MELA-AU 12 41957759 41957759 single base substitution G A intron_variant MELA-AU 12 41957843 41957843 single base substitution G A intron_variant MELA-AU 12 41958096 41958096 single base substitution C T intron_variant MELA-AU 12 41958098 41958098 single base substitution A T intron_variant MELA-AU 12 41958120 41958120 single base substitution T G intron_variant MELA-AU 12 41958203 41958203 single base substitution C T intron_variant MELA-AU 12 41958219 41958219 single base substitution G A intron_variant MELA-AU 12 41958433 41958433 single base substitution C T intron_variant MELA-AU 12 41958526 41958526 single base substitution G A intron_variant MELA-AU 12 41958605 41958605 single base substitution G A intron_variant MELA-AU 12 41958616 41958616 single base substitution A G intron_variant MELA-AU 12 41959190 41959190 single base substitution A T intron_variant MELA-AU 12 41959602 41959602 single base substitution G A intron_variant MELA-AU 12 41959746 41959746 single base substitution C T intron_variant MELA-AU 12 41960017 41960017 single base substitution C T intron_variant MELA-AU 12 41960103 41960103 single base substitution G A intron_variant MELA-AU 12 41960189 41960189 single base substitution T A intron_variant MELA-AU 12 41960454 41960454 single base substitution G A intron_variant MELA-AU 12 41960576 41960576 single base substitution C T intron_variant MELA-AU 12 41960694 41960694 single base substitution G C intron_variant MELA-AU 12 41960757 41960757 single base substitution C T intron_variant MELA-AU 12 41960784 41960784 single base substitution C T intron_variant MELA-AU 12 41960814 41960814 single base substitution G A intron_variant MELA-AU 12 41961283 41961283 single base substitution G A intron_variant MELA-AU 12 41961486 41961486 single base substitution G A intron_variant MELA-AU 12 41961881 41961881 single base substitution C T intron_variant MELA-AU 12 41962166 41962166 single base substitution G A intron_variant MELA-AU 12 41962493 41962493 single base substitution C T intron_variant MELA-AU 12 41962716 41962716 single base substitution C T intron_variant MELA-AU 12 41963142 41963142 single base substitution G A intron_variant MELA-AU 12 41963203 41963203 single base substitution C T intron_variant MELA-AU 12 41963254 41963254 single base substitution A G intron_variant MELA-AU 12 41963466 41963466 single base substitution G A intron_variant MELA-AU 12 41963649 41963649 single base substitution C T intron_variant MELA-AU 12 41963772 41963772 single base substitution C T intron_variant MELA-AU 12 41963847 41963847 single base substitution G A intron_variant MELA-AU 12 41963856 41963856 single base substitution G A intron_variant MELA-AU 12 41964000 41964000 single base substitution G A intron_variant MELA-AU 12 41964196 41964196 single base substitution C T intron_variant MELA-AU 12 41964262 41964262 single base substitution C T intron_variant MELA-AU 12 41964283 41964283 single base substitution G A intron_variant MELA-AU 12 41964420 41964420 single base substitution C T intron_variant MELA-AU 12 41964498 41964498 single base substitution T C intron_variant MELA-AU 12 41964570 41964570 single base substitution G A intron_variant MELA-AU 12 41964724 41964724 single base substitution A T intron_variant MELA-AU 12 41964816 41964816 single base substitution T C intron_variant MELA-AU 12 41964854 41964854 single base substitution C T intron_variant MELA-AU 12 41965022 41965022 single base substitution G A intron_variant MELA-AU 12 41965176 41965176 single base substitution T A intron_variant MELA-AU 12 41965324 41965324 single base substitution T A intron_variant MELA-AU 12 41965450 41965450 single base substitution G A intron_variant MELA-AU 12 41965563 41965563 single base substitution C T intron_variant MELA-AU 12 41965573 41965573 single base substitution C T intron_variant MELA-AU 12 41965579 41965579 single base substitution C T intron_variant MELA-AU 12 41965580 41965580 single base substitution C T intron_variant MELA-AU 12 41965602 41965602 single base substitution C T intron_variant MELA-AU 12 41965655 41965655 single base substitution A G intron_variant MELA-AU 12 41965704 41965704 single base substitution G A intron_variant MELA-AU 12 41965742 41965742 single base substitution A T intron_variant MELA-AU 12 41966078 41966078 single base substitution G A intron_variant MELA-AU 12 41966269 41966269 single base substitution G A exon_variant MELA-AU 12 41966269 41966269 single base substitution G A missense_variant R303Q 908G>A MELA-AU 12 41966269 41966269 single base substitution G A missense_variant R305Q 914G>A MELA-AU 12 41966269 41966269 single base substitution G A missense_variant R563Q 1688G>A MELA-AU 12 41966274 41966274 single base substitution G A exon_variant MELA-AU 12 41966274 41966274 single base substitution G A missense_variant D305N 913G>A MELA-AU 12 41966274 41966274 single base substitution G A missense_variant D307N 919G>A MELA-AU 12 41966274 41966274 single base substitution G A missense_variant D565N 1693G>A MELA-AU 12 41966399 41966399 single base substitution C T exon_variant MELA-AU 12 41966399 41966399 single base substitution C T synonymous_variant L346L 1038C>T MELA-AU 12 41966399 41966399 single base substitution C T synonymous_variant L348L 1044C>T MELA-AU 12 41966399 41966399 single base substitution C T synonymous_variant L606L 1818C>T MELA-AU 12 41966514 41966514 single base substitution C T exon_variant MELA-AU 12 41966514 41966514 single base substitution C T synonymous_variant L385L 1153C>T MELA-AU 12 41966514 41966514 single base substitution C T synonymous_variant L387L 1159C>T MELA-AU 12 41966514 41966514 single base substitution C T synonymous_variant L645L 1933C>T MELA-AU 12 41966780 41966780 single base substitution G A exon_variant MELA-AU 12 41966780 41966780 single base substitution G A synonymous_variant K473K 1419G>A MELA-AU 12 41966780 41966780 single base substitution G A synonymous_variant K475K 1425G>A MELA-AU 12 41966780 41966780 single base substitution G A synonymous_variant K733K 2199G>A MELA-AU 12 41966907 41966907 single base substitution A T exon_variant MELA-AU 12 41966907 41966907 single base substitution A T missense_variant M516L 1546A>T MELA-AU 12 41966907 41966907 single base substitution A T missense_variant M518L 1552A>T MELA-AU 12 41966907 41966907 single base substitution A T missense_variant M776L 2326A>T MELA-AU 12 41967085 41967085 single base substitution G A exon_variant MELA-AU 12 41967085 41967085 single base substitution G A missense_variant S575N 1724G>A MELA-AU 12 41967085 41967085 single base substitution G A missense_variant S577N 1730G>A MELA-AU 12 41967085 41967085 single base substitution G A missense_variant S835N 2504G>A MELA-AU 12 41967089 41967089 single base substitution C T exon_variant MELA-AU 12 41967089 41967089 single base substitution C T synonymous_variant S576S 1728C>T MELA-AU 12 41967089 41967089 single base substitution C T synonymous_variant S578S 1734C>T MELA-AU 12 41967089 41967089 single base substitution C T synonymous_variant S836S 2508C>T MELA-AU 12 41967212 41967212 single base substitution G A exon_variant MELA-AU 12 41967212 41967212 single base substitution G A synonymous_variant K617K 1851G>A MELA-AU 12 41967212 41967212 single base substitution G A synonymous_variant K619K 1857G>A MELA-AU 12 41967212 41967212 single base substitution G A synonymous_variant K877K 2631G>A MELA-AU 12 41967301 41967301 single base substitution G A exon_variant MELA-AU 12 41967301 41967301 single base substitution G A missense_variant R647Q 1940G>A MELA-AU 12 41967301 41967301 single base substitution G A missense_variant R649Q 1946G>A MELA-AU 12 41967301 41967301 single base substitution G A missense_variant R907Q 2720G>A MELA-AU 12 41967311 41967311 single base substitution C T exon_variant MELA-AU 12 41967311 41967311 single base substitution C T synonymous_variant I650I 1950C>T MELA-AU 12 41967311 41967311 single base substitution C T synonymous_variant I652I 1956C>T MELA-AU 12 41967311 41967311 single base substitution C T synonymous_variant I910I 2730C>T MELA-AU 12 41967318 41967318 single base substitution G A exon_variant MELA-AU 12 41967318 41967318 single base substitution G A missense_variant E653K 1957G>A MELA-AU 12 41967318 41967318 single base substitution G A missense_variant E655K 1963G>A MELA-AU 12 41967318 41967318 single base substitution G A missense_variant E913K 2737G>A MELA-AU 12 41967335 41967335 single base substitution C T exon_variant MELA-AU 12 41967335 41967335 single base substitution C T synonymous_variant I658I 1974C>T MELA-AU 12 41967335 41967335 single base substitution C T synonymous_variant I660I 1980C>T MELA-AU 12 41967335 41967335 single base substitution C T synonymous_variant I918I 2754C>T MELA-AU 12 41967420 41967420 single base substitution A T exon_variant MELA-AU 12 41967420 41967420 single base substitution A T stop_gained K687* 2059A>T MELA-AU 12 41967420 41967420 single base substitution A T stop_gained K689* 2065A>T MELA-AU 12 41967420 41967420 single base substitution A T stop_gained K947* 2839A>T MELA-AU 12 41967611 41967611 single base substitution C T exon_variant MELA-AU 12 41967611 41967611 single base substitution C T synonymous_variant I1010I 3030C>T MELA-AU 12 41967611 41967611 single base substitution C T synonymous_variant I750I 2250C>T MELA-AU 12 41967611 41967611 single base substitution C T synonymous_variant I752I 2256C>T MELA-AU 12 41967638 41967638 single base substitution G A exon_variant MELA-AU 12 41967638 41967638 single base substitution G A synonymous_variant K1019K 3057G>A MELA-AU 12 41967638 41967638 single base substitution G A synonymous_variant K759K 2277G>A MELA-AU 12 41967638 41967638 single base substitution G A synonymous_variant K761K 2283G>A MELA-AU 12 41967659 41967659 single base substitution C T exon_variant MELA-AU 12 41967659 41967659 single base substitution C T synonymous_variant V1026V 3078C>T MELA-AU 12 41967659 41967659 single base substitution C T synonymous_variant V766V 2298C>T MELA-AU 12 41967659 41967659 single base substitution C T synonymous_variant V768V 2304C>T MELA-AU 12 41967743 41967743 single base substitution C T 3_prime_UTR_variant MELA-AU 12 41967743 41967743 single base substitution C T exon_variant MELA-AU 12 41967754 41967754 single base substitution G A 3_prime_UTR_variant MELA-AU 12 41967754 41967754 single base substitution G A exon_variant MELA-AU 12 41967762 41967762 single base substitution C T 3_prime_UTR_variant MELA-AU 12 41967762 41967762 single base substitution C T exon_variant MELA-AU 12 41967945 41967945 single base substitution G A 3_prime_UTR_variant MELA-AU 12 41967945 41967945 single base substitution G A downstream_gene_variant MELA-AU 12 41967945 41967945 single base substitution G A exon_variant MELA-AU 12 41967996 41967996 single base substitution C T 3_prime_UTR_variant MELA-AU 12 41967996 41967996 single base substitution C T downstream_gene_variant MELA-AU 12 41967996 41967996 single base substitution C T exon_variant MELA-AU 12 41968208 41968208 single base substitution C T 3_prime_UTR_variant MELA-AU 12 41968208 41968208 single base substitution C T downstream_gene_variant MELA-AU 12 41968208 41968208 single base substitution C T exon_variant MELA-AU 12 41968256 41968256 single base substitution C T 3_prime_UTR_variant MELA-AU 12 41968256 41968256 single base substitution C T downstream_gene_variant MELA-AU 12 41968256 41968256 single base substitution C T exon_variant MELA-AU 12 41968394 41968394 single base substitution C T downstream_gene_variant MELA-AU 12 41968410 41968410 single base substitution T A downstream_gene_variant MELA-AU 12 41968584 41968584 single base substitution C T downstream_gene_variant MELA-AU 12 41968642 41968642 single base substitution C T downstream_gene_variant MELA-AU 12 41968680 41968680 single base substitution C T downstream_gene_variant MELA-AU 12 41968806 41968806 single base substitution G A downstream_gene_variant MELA-AU 12 41968880 41968880 single base substitution G A downstream_gene_variant MELA-AU 12 41968936 41968936 single base substitution C T downstream_gene_variant MELA-AU 12 41968980 41968980 single base substitution G A downstream_gene_variant MELA-AU 12 41969081 41969081 single base substitution T A downstream_gene_variant MELA-AU 12 41969095 41969095 single base substitution A G downstream_gene_variant MELA-AU 12 41969312 41969312 single base substitution G A downstream_gene_variant MELA-AU 12 41969432 41969432 single base substitution C T downstream_gene_variant MELA-AU 12 41969699 41969699 single base substitution G A downstream_gene_variant MELA-AU 12 41970405 41970405 single base substitution C T downstream_gene_variant MELA-AU 12 41970690 41970690 single base substitution C T downstream_gene_variant MELA-AU 12 41970862 41970862 single base substitution G A downstream_gene_variant MELA-AU 12 41971174 41971174 single base substitution C T downstream_gene_variant MELA-AU 12 41971194 41971195 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 41971474 41971474 single base substitution G A downstream_gene_variant MELA-AU 12 41971733 41971733 single base substitution G A downstream_gene_variant MELA-AU 12 41971829 41971829 single base substitution C T downstream_gene_variant MELA-AU 12 41972023 41972023 single base substitution G A downstream_gene_variant MELA-AU 12 41972105 41972105 single base substitution T C downstream_gene_variant MELA-AU 12 41972319 41972319 single base substitution T G downstream_gene_variant MELA-AU 12 41972612 41972612 single base substitution C T downstream_gene_variant MELA-AU 12 41973007 41973007 single base substitution C T downstream_gene_variant MELA-AU 12 41973016 41973016 single base substitution G A downstream_gene_variant MELA-AU 12 41973141 41973141 single base substitution C T downstream_gene_variant MELA-AU 12 41973180 41973181 multiple base substitution (>=2bp and <=200bp) TG CT downstream_gene_variant ORCA-IN 12 41583291 41583291 single base substitution G C intron_variant ORCA-IN 12 41585314 41585314 single base substitution G A missense_variant G235R 703G>A ORCA-IN 12 41618223 41618223 single base substitution T G intron_variant ORCA-IN 12 41621684 41621684 single base substitution C T intron_variant ORCA-IN 12 41638323 41638323 single base substitution C T intron_variant ORCA-IN 12 41640884 41640884 single base substitution A T intron_variant ORCA-IN 12 41648526 41648526 single base substitution C G intron_variant ORCA-IN 12 41655326 41655326 single base substitution C G intron_variant ORCA-IN 12 41669758 41669758 single base substitution C T intron_variant ORCA-IN 12 41696739 41696739 single base substitution C T intron_variant ORCA-IN 12 41701624 41701624 single base substitution T C intron_variant ORCA-IN 12 41705609 41705609 single base substitution C T intron_variant ORCA-IN 12 41734427 41734427 single base substitution G A intron_variant ORCA-IN 12 41737533 41737533 single base substitution C A intron_variant ORCA-IN 12 41739541 41739541 single base substitution T C intron_variant ORCA-IN 12 41746179 41746179 single base substitution G A intron_variant ORCA-IN 12 41751918 41751918 single base substitution G C intron_variant ORCA-IN 12 41753007 41753007 single base substitution G C intron_variant ORCA-IN 12 41761244 41761244 single base substitution G A intron_variant ORCA-IN 12 41766560 41766560 single base substitution T G intron_variant ORCA-IN 12 41774481 41774481 single base substitution T C intron_variant ORCA-IN 12 41776497 41776497 single base substitution G A intron_variant ORCA-IN 12 41777335 41777335 single base substitution G T intron_variant ORCA-IN 12 41794538 41794538 single base substitution C T intron_variant ORCA-IN 12 41828888 41828888 single base substitution G T intron_variant ORCA-IN 12 41828888 41828888 single base substitution G T upstream_gene_variant ORCA-IN 12 41857819 41857819 single base substitution G T intron_variant ORCA-IN 12 41888836 41888836 single base substitution A G intron_variant ORCA-IN 12 41934705 41934705 single base substitution C T intron_variant ORCA-IN 12 41949835 41949835 single base substitution T C intron_variant ORCA-IN 12 41952288 41952288 single base substitution T C intron_variant ORCA-IN 12 41967475 41967475 single base substitution G A exon_variant ORCA-IN 12 41967475 41967475 single base substitution G A missense_variant R705Q 2114G>A ORCA-IN 12 41967475 41967475 single base substitution G A missense_variant R707Q 2120G>A ORCA-IN 12 41967475 41967475 single base substitution G A missense_variant R965Q 2894G>A ORCA-IN 12 41967577 41967577 single base substitution G A exon_variant ORCA-IN 12 41967577 41967577 single base substitution G A missense_variant R739K 2216G>A ORCA-IN 12 41967577 41967577 single base substitution G A missense_variant R741K 2222G>A ORCA-IN 12 41967577 41967577 single base substitution G A missense_variant R999K 2996G>A OV-AU 12 41581343 41581343 single base substitution T C upstream_gene_variant OV-AU 12 41585232 41585232 single base substitution T A intron_variant OV-AU 12 41588850 41588850 single base substitution A G intron_variant OV-AU 12 41599438 41599438 single base substitution A T intron_variant OV-AU 12 41599968 41599968 single base substitution G A intron_variant OV-AU 12 41603108 41603108 single base substitution T C intron_variant OV-AU 12 41611283 41611283 single base substitution G A intron_variant OV-AU 12 41611369 41611369 single base substitution C G intron_variant OV-AU 12 41611635 41611635 single base substitution C G intron_variant OV-AU 12 41614978 41614978 single base substitution G A intron_variant OV-AU 12 41615881 41615881 single base substitution G C intron_variant OV-AU 12 41617552 41617552 single base substitution C T intron_variant OV-AU 12 41634747 41634747 single base substitution T C intron_variant OV-AU 12 41640591 41640591 single base substitution T C intron_variant OV-AU 12 41647099 41647099 single base substitution G C intron_variant OV-AU 12 41649254 41649254 single base substitution G C intron_variant OV-AU 12 41654928 41654928 single base substitution T G intron_variant OV-AU 12 41657231 41657231 single base substitution G C intron_variant OV-AU 12 41662252 41662252 single base substitution C T intron_variant OV-AU 12 41662611 41662611 single base substitution A G intron_variant OV-AU 12 41665110 41665110 single base substitution T A intron_variant OV-AU 12 41670339 41670339 single base substitution A C intron_variant OV-AU 12 41672178 41672178 single base substitution C T intron_variant OV-AU 12 41675439 41675439 single base substitution A G intron_variant OV-AU 12 41675568 41675568 single base substitution C T intron_variant OV-AU 12 41678502 41678502 single base substitution G A intron_variant OV-AU 12 41681977 41681977 single base substitution A C intron_variant OV-AU 12 41691956 41691956 single base substitution A G intron_variant OV-AU 12 41692743 41692743 single base substitution A T intron_variant OV-AU 12 41693483 41693483 single base substitution C G intron_variant OV-AU 12 41693641 41693641 single base substitution T C intron_variant OV-AU 12 41693677 41693677 single base substitution T C intron_variant OV-AU 12 41693936 41693936 single base substitution C A intron_variant OV-AU 12 41695628 41695628 single base substitution G T intron_variant OV-AU 12 41695924 41695924 single base substitution A C intron_variant OV-AU 12 41698433 41698433 single base substitution G T intron_variant OV-AU 12 41701089 41701089 single base substitution T A intron_variant OV-AU 12 41701370 41701370 single base substitution A T intron_variant OV-AU 12 41705609 41705609 single base substitution C T intron_variant OV-AU 12 41710085 41710085 single base substitution C T intron_variant OV-AU 12 41712175 41712175 single base substitution A T intron_variant OV-AU 12 41715179 41715179 single base substitution T C intron_variant OV-AU 12 41719329 41719329 single base substitution T A intron_variant OV-AU 12 41735256 41735256 single base substitution C T intron_variant OV-AU 12 41736621 41736621 single base substitution A C intron_variant OV-AU 12 41737962 41737962 single base substitution G A intron_variant OV-AU 12 41741263 41741263 single base substitution T A intron_variant OV-AU 12 41748335 41748335 single base substitution G C intron_variant OV-AU 12 41753818 41753818 single base substitution T A intron_variant OV-AU 12 41756668 41756668 single base substitution A T intron_variant OV-AU 12 41758669 41758669 single base substitution T G intron_variant OV-AU 12 41762702 41762702 single base substitution G A intron_variant OV-AU 12 41762803 41762803 single base substitution A C intron_variant OV-AU 12 41769074 41769074 single base substitution A T intron_variant OV-AU 12 41769428 41769428 single base substitution G T intron_variant OV-AU 12 41770964 41770964 single base substitution G C intron_variant OV-AU 12 41772684 41772684 single base substitution G A intron_variant OV-AU 12 41774708 41774708 single base substitution T A intron_variant OV-AU 12 41777266 41777266 single base substitution C T intron_variant OV-AU 12 41782416 41782416 single base substitution T G intron_variant OV-AU 12 41784988 41784988 single base substitution G A intron_variant OV-AU 12 41793020 41793020 single base substitution A T intron_variant OV-AU 12 41796960 41796960 single base substitution C A intron_variant OV-AU 12 41797754 41797754 single base substitution A G intron_variant OV-AU 12 41805041 41805041 single base substitution A T intron_variant OV-AU 12 41807326 41807326 single base substitution G A intron_variant OV-AU 12 41809541 41809541 single base substitution C T intron_variant OV-AU 12 41812128 41812128 single base substitution T G intron_variant OV-AU 12 41815767 41815767 single base substitution G C intron_variant OV-AU 12 41817208 41817208 single base substitution G A intron_variant OV-AU 12 41818031 41818031 single base substitution T G intron_variant OV-AU 12 41820363 41820363 single base substitution C A intron_variant OV-AU 12 41822016 41822016 single base substitution A T intron_variant OV-AU 12 41830470 41830470 single base substitution C G intron_variant OV-AU 12 41830470 41830470 single base substitution C G upstream_gene_variant OV-AU 12 41830915 41830915 single base substitution A T intron_variant OV-AU 12 41830915 41830915 single base substitution A T upstream_gene_variant OV-AU 12 41832039 41832039 single base substitution G T intron_variant OV-AU 12 41833624 41833624 single base substitution A T intron_variant OV-AU 12 41837230 41837230 single base substitution A C intron_variant OV-AU 12 41844955 41844955 single base substitution C A intron_variant OV-AU 12 41845240 41845240 single base substitution A G intron_variant OV-AU 12 41846047 41846047 single base substitution C T intron_variant OV-AU 12 41851077 41851077 single base substitution A G intron_variant OV-AU 12 41856789 41856789 single base substitution T C intron_variant OV-AU 12 41856790 41856790 single base substitution C T intron_variant OV-AU 12 41859305 41859305 single base substitution T C intron_variant OV-AU 12 41861599 41861599 single base substitution C T intron_variant OV-AU 12 41864638 41864638 single base substitution A T intron_variant OV-AU 12 41866672 41866672 single base substitution C T intron_variant OV-AU 12 41867031 41867031 single base substitution A G intron_variant OV-AU 12 41869607 41869607 single base substitution A C intron_variant OV-AU 12 41872822 41872822 single base substitution A T intron_variant OV-AU 12 41887902 41887902 single base substitution A T intron_variant OV-AU 12 41888599 41888599 single base substitution T A intron_variant OV-AU 12 41891281 41891281 single base substitution T G intron_variant OV-AU 12 41891313 41891313 single base substitution C T intron_variant OV-AU 12 41892638 41892638 single base substitution A G intron_variant OV-AU 12 41893764 41893764 single base substitution A T intron_variant OV-AU 12 41893836 41893836 single base substitution G C intron_variant OV-AU 12 41894261 41894261 single base substitution G A intron_variant OV-AU 12 41897053 41897053 single base substitution C T intron_variant OV-AU 12 41898237 41898237 single base substitution T A intron_variant OV-AU 12 41899563 41899563 single base substitution G A intron_variant OV-AU 12 41899563 41899563 single base substitution G A upstream_gene_variant OV-AU 12 41900367 41900367 single base substitution G C missense_variant R318T 953G>C OV-AU 12 41900367 41900367 single base substitution G C missense_variant R58T 173G>C OV-AU 12 41900367 41900367 single base substitution G C missense_variant R60T 179G>C OV-AU 12 41900367 41900367 single base substitution G C upstream_gene_variant OV-AU 12 41903336 41903336 single base substitution G C intron_variant OV-AU 12 41903336 41903336 single base substitution G C upstream_gene_variant OV-AU 12 41906447 41906447 single base substitution G C intron_variant OV-AU 12 41911936 41911936 single base substitution G C intron_variant OV-AU 12 41913465 41913465 single base substitution C T intron_variant OV-AU 12 41913729 41913729 single base substitution C T intron_variant OV-AU 12 41915007 41915007 single base substitution A G intron_variant OV-AU 12 41915141 41915141 single base substitution T A intron_variant OV-AU 12 41915946 41915946 single base substitution C G intron_variant OV-AU 12 41916614 41916614 single base substitution T C intron_variant OV-AU 12 41917099 41917099 single base substitution C A intron_variant OV-AU 12 41918175 41918175 single base substitution G A intron_variant OV-AU 12 41919122 41919122 single base substitution C A intron_variant OV-AU 12 41920042 41920042 single base substitution A T intron_variant OV-AU 12 41920524 41920524 single base substitution A G intron_variant OV-AU 12 41925521 41925521 single base substitution G A intron_variant OV-AU 12 41927061 41927061 single base substitution C G intron_variant OV-AU 12 41927078 41927078 single base substitution G A intron_variant OV-AU 12 41936524 41936524 single base substitution G C intron_variant OV-AU 12 41937146 41937146 single base substitution A T intron_variant OV-AU 12 41937216 41937216 single base substitution A G intron_variant OV-AU 12 41937987 41937987 single base substitution A G intron_variant OV-AU 12 41938951 41938951 single base substitution T C intron_variant OV-AU 12 41943005 41943005 single base substitution T C intron_variant OV-AU 12 41943171 41943171 single base substitution T G intron_variant OV-AU 12 41945366 41945366 single base substitution T C intron_variant OV-AU 12 41947892 41947892 single base substitution A G intron_variant OV-AU 12 41952653 41952653 single base substitution T C intron_variant OV-AU 12 41960402 41960402 single base substitution G C intron_variant OV-AU 12 41963833 41963833 single base substitution G T intron_variant OV-AU 12 41967463 41967463 single base substitution A G exon_variant OV-AU 12 41967463 41967463 single base substitution A G missense_variant E701G 2102A>G OV-AU 12 41967463 41967463 single base substitution A G missense_variant E703G 2108A>G OV-AU 12 41967463 41967463 single base substitution A G missense_variant E961G 2882A>G OV-AU 12 41970091 41970091 single base substitution C T downstream_gene_variant OV-US 12 41966489 41966489 single base substitution G T exon_variant OV-US 12 41966489 41966489 single base substitution G T missense_variant K376N 1128G>T OV-US 12 41966489 41966489 single base substitution G T missense_variant K378N 1134G>T OV-US 12 41966489 41966489 single base substitution G T missense_variant K636N 1908G>T PACA-AU 12 41578877 41578877 single base substitution T G upstream_gene_variant PACA-AU 12 41581738 41581738 single base substitution C T upstream_gene_variant PACA-AU 12 41582218 41582218 single base substitution G A upstream_gene_variant PACA-AU 12 41583522 41583522 single base substitution C A intron_variant PACA-AU 12 41584488 41584488 single base substitution G A intron_variant PACA-AU 12 41588394 41588418 deletion of <=200bp AGCTGTGTGTAGGCCACTGCTCTCT - intron_variant PACA-AU 12 41588771 41588771 single base substitution C T intron_variant PACA-AU 12 41591574 41591574 single base substitution A G intron_variant PACA-AU 12 41593429 41593429 single base substitution T C intron_variant PACA-AU 12 41593490 41593490 single base substitution C A intron_variant PACA-AU 12 41593542 41593542 single base substitution C A intron_variant PACA-AU 12 41594349 41594349 single base substitution T C intron_variant PACA-AU 12 41594674 41594674 single base substitution T A intron_variant PACA-AU 12 41594940 41594940 single base substitution G A intron_variant PACA-AU 12 41599157 41599157 single base substitution T G intron_variant PACA-AU 12 41600360 41600360 single base substitution A T intron_variant PACA-AU 12 41601382 41601382 single base substitution C T intron_variant PACA-AU 12 41602519 41602519 single base substitution T G intron_variant PACA-AU 12 41602667 41602667 single base substitution A G intron_variant PACA-AU 12 41603300 41603300 insertion of <=200bp - C intron_variant PACA-AU 12 41605005 41605005 single base substitution C T intron_variant PACA-AU 12 41606475 41606475 single base substitution A G intron_variant PACA-AU 12 41606895 41606895 single base substitution T A intron_variant PACA-AU 12 41610566 41610566 single base substitution G T intron_variant PACA-AU 12 41612014 41612014 single base substitution T A intron_variant PACA-AU 12 41616843 41616843 single base substitution G A intron_variant PACA-AU 12 41618469 41618469 single base substitution G C intron_variant PACA-AU 12 41618876 41618876 single base substitution C G intron_variant PACA-AU 12 41619703 41619703 insertion of <=200bp - C intron_variant PACA-AU 12 41621181 41621181 single base substitution A G intron_variant PACA-AU 12 41622908 41622908 single base substitution A T intron_variant PACA-AU 12 41623926 41623926 single base substitution G A intron_variant PACA-AU 12 41624004 41624004 single base substitution G A intron_variant PACA-AU 12 41625370 41625370 single base substitution G A intron_variant PACA-AU 12 41627369 41627369 single base substitution A C intron_variant PACA-AU 12 41629262 41629262 single base substitution C G intron_variant PACA-AU 12 41629355 41629355 single base substitution T G intron_variant PACA-AU 12 41630483 41630483 single base substitution C A intron_variant PACA-AU 12 41636037 41636037 single base substitution A G intron_variant PACA-AU 12 41636909 41636909 single base substitution G T intron_variant PACA-AU 12 41637937 41637937 single base substitution C T intron_variant PACA-AU 12 41638643 41638643 single base substitution C T intron_variant PACA-AU 12 41639024 41639024 single base substitution G A intron_variant PACA-AU 12 41643673 41643673 single base substitution C T intron_variant PACA-AU 12 41645938 41645938 insertion of <=200bp - A intron_variant PACA-AU 12 41646948 41646948 single base substitution T C intron_variant PACA-AU 12 41651034 41651034 single base substitution G C intron_variant PACA-AU 12 41653751 41653751 single base substitution G C intron_variant PACA-AU 12 41657190 41657190 single base substitution A G intron_variant PACA-AU 12 41660223 41660223 single base substitution G A intron_variant PACA-AU 12 41660329 41660329 single base substitution G A intron_variant PACA-AU 12 41660524 41660524 deletion of <=200bp G - intron_variant PACA-AU 12 41660714 41660714 insertion of <=200bp - T intron_variant PACA-AU 12 41660755 41660755 single base substitution C T intron_variant PACA-AU 12 41661821 41661821 single base substitution C T intron_variant PACA-AU 12 41663025 41663025 single base substitution C T intron_variant PACA-AU 12 41663190 41663190 single base substitution C G intron_variant PACA-AU 12 41663266 41663266 single base substitution C T intron_variant PACA-AU 12 41666393 41666393 single base substitution G A intron_variant PACA-AU 12 41668536 41668536 single base substitution C A intron_variant PACA-AU 12 41669021 41669021 single base substitution C T intron_variant PACA-AU 12 41670330 41670330 single base substitution C T intron_variant PACA-AU 12 41670372 41670372 single base substitution C T intron_variant PACA-AU 12 41670880 41670880 single base substitution C A intron_variant PACA-AU 12 41671151 41671151 single base substitution C A intron_variant PACA-AU 12 41673829 41673829 single base substitution T C intron_variant PACA-AU 12 41676247 41676247 single base substitution C A intron_variant PACA-AU 12 41677028 41677028 single base substitution T A intron_variant PACA-AU 12 41678729 41678729 single base substitution C A intron_variant PACA-AU 12 41678730 41678730 single base substitution C A intron_variant PACA-AU 12 41679331 41679331 single base substitution C G intron_variant PACA-AU 12 41679380 41679380 single base substitution C A intron_variant PACA-AU 12 41679695 41679695 single base substitution T G intron_variant PACA-AU 12 41683453 41683453 single base substitution C T intron_variant PACA-AU 12 41684794 41684794 single base substitution G C intron_variant PACA-AU 12 41684834 41684834 single base substitution A T intron_variant PACA-AU 12 41687222 41687222 single base substitution C T intron_variant PACA-AU 12 41692038 41692038 single base substitution T C intron_variant PACA-AU 12 41692116 41692116 single base substitution C A intron_variant PACA-AU 12 41692609 41692609 single base substitution T A intron_variant PACA-AU 12 41695071 41695071 single base substitution C T intron_variant PACA-AU 12 41696770 41696770 single base substitution A T intron_variant PACA-AU 12 41700328 41700328 single base substitution G A intron_variant PACA-AU 12 41700336 41700336 single base substitution G T intron_variant PACA-AU 12 41701666 41701666 single base substitution C A intron_variant PACA-AU 12 41703623 41703623 single base substitution G T intron_variant PACA-AU 12 41704551 41704551 single base substitution T A intron_variant PACA-AU 12 41705102 41705102 single base substitution G A intron_variant PACA-AU 12 41705812 41705812 single base substitution C A intron_variant PACA-AU 12 41706171 41706171 single base substitution C T intron_variant PACA-AU 12 41706622 41706622 single base substitution C G intron_variant PACA-AU 12 41708253 41708253 insertion of <=200bp - A intron_variant PACA-AU 12 41709298 41709298 single base substitution A G intron_variant PACA-AU 12 41710560 41710560 single base substitution C A intron_variant PACA-AU 12 41712927 41712927 single base substitution G A intron_variant PACA-AU 12 41713839 41713839 single base substitution C T intron_variant PACA-AU 12 41713951 41713951 single base substitution G A intron_variant PACA-AU 12 41717327 41717327 single base substitution A T intron_variant PACA-AU 12 41717537 41717537 single base substitution G T intron_variant PACA-AU 12 41719795 41719795 single base substitution T C intron_variant PACA-AU 12 41725488 41725488 single base substitution G T intron_variant PACA-AU 12 41726308 41726308 single base substitution A G intron_variant PACA-AU 12 41726614 41726614 single base substitution G T intron_variant PACA-AU 12 41733647 41733647 single base substitution G C intron_variant PACA-AU 12 41734054 41734055 deletion of <=200bp AG - intron_variant PACA-AU 12 41736306 41736306 insertion of <=200bp - A intron_variant PACA-AU 12 41736339 41736347 deletion of <=200bp AAATGATCT - intron_variant PACA-AU 12 41741181 41741181 single base substitution A G intron_variant PACA-AU 12 41743757 41743757 single base substitution G T intron_variant PACA-AU 12 41745498 41745498 single base substitution C A intron_variant PACA-AU 12 41745696 41745696 single base substitution C A intron_variant PACA-AU 12 41745773 41745773 single base substitution C T intron_variant PACA-AU 12 41746950 41746950 single base substitution T C intron_variant PACA-AU 12 41747102 41747102 single base substitution T G intron_variant PACA-AU 12 41747245 41747272 deletion of <=200bp CAGTGACTTTATAACGAAAGATAGGGCA - intron_variant PACA-AU 12 41749536 41749536 single base substitution A C intron_variant PACA-AU 12 41749689 41749689 single base substitution G A intron_variant PACA-AU 12 41750136 41750136 single base substitution C T intron_variant PACA-AU 12 41751172 41751172 single base substitution A C intron_variant PACA-AU 12 41753358 41753358 single base substitution C T intron_variant PACA-AU 12 41754988 41754988 single base substitution G A intron_variant PACA-AU 12 41755440 41755440 deletion of <=200bp A - intron_variant PACA-AU 12 41758559 41758559 deletion of <=200bp G - intron_variant PACA-AU 12 41760534 41760534 single base substitution C T intron_variant PACA-AU 12 41761141 41761141 single base substitution G A intron_variant PACA-AU 12 41762273 41762273 single base substitution G T intron_variant PACA-AU 12 41765047 41765047 single base substitution T A intron_variant PACA-AU 12 41766097 41766097 single base substitution G A intron_variant PACA-AU 12 41768668 41768668 single base substitution C T intron_variant PACA-AU 12 41769860 41769860 single base substitution C A intron_variant PACA-AU 12 41773322 41773322 single base substitution G C intron_variant PACA-AU 12 41775633 41775633 single base substitution G A intron_variant PACA-AU 12 41777444 41777444 single base substitution G T intron_variant PACA-AU 12 41780371 41780371 single base substitution A G intron_variant PACA-AU 12 41781020 41781020 single base substitution C G intron_variant PACA-AU 12 41781238 41781238 single base substitution T A intron_variant PACA-AU 12 41782337 41782337 single base substitution C T intron_variant PACA-AU 12 41785685 41785685 single base substitution A G intron_variant PACA-AU 12 41788581 41788582 deletion of <=200bp GA - intron_variant PACA-AU 12 41788630 41788630 single base substitution A G intron_variant PACA-AU 12 41788640 41788641 deletion of <=200bp GA - intron_variant PACA-AU 12 41792778 41792778 single base substitution C T intron_variant PACA-AU 12 41793408 41793408 single base substitution G A intron_variant PACA-AU 12 41794791 41794791 single base substitution T A intron_variant PACA-AU 12 41794907 41794907 single base substitution A C intron_variant PACA-AU 12 41797500 41797500 single base substitution C T intron_variant PACA-AU 12 41798826 41798826 single base substitution C T intron_variant PACA-AU 12 41799211 41799211 single base substitution T C intron_variant PACA-AU 12 41799843 41799843 single base substitution A G intron_variant PACA-AU 12 41800178 41800178 single base substitution G A intron_variant PACA-AU 12 41801317 41801317 single base substitution G T intron_variant PACA-AU 12 41803912 41803912 single base substitution T G intron_variant PACA-AU 12 41804399 41804399 single base substitution A G intron_variant PACA-AU 12 41805403 41805403 single base substitution C T intron_variant PACA-AU 12 41807363 41807363 single base substitution C T intron_variant PACA-AU 12 41811504 41811504 single base substitution C T intron_variant PACA-AU 12 41817466 41817466 single base substitution C A intron_variant PACA-AU 12 41819727 41819727 single base substitution C T intron_variant PACA-AU 12 41820185 41820185 single base substitution A T intron_variant PACA-AU 12 41823836 41823836 single base substitution C T intron_variant PACA-AU 12 41824162 41824162 single base substitution T C intron_variant PACA-AU 12 41827963 41827963 single base substitution G A intron_variant PACA-AU 12 41827963 41827963 single base substitution G A upstream_gene_variant PACA-AU 12 41829109 41829109 single base substitution C G intron_variant PACA-AU 12 41829109 41829109 single base substitution C G upstream_gene_variant PACA-AU 12 41829319 41829319 single base substitution G A intron_variant PACA-AU 12 41829319 41829319 single base substitution G A upstream_gene_variant PACA-AU 12 41829350 41829350 single base substitution G C intron_variant PACA-AU 12 41829350 41829350 single base substitution G C upstream_gene_variant PACA-AU 12 41829352 41829352 single base substitution A T intron_variant PACA-AU 12 41829352 41829352 single base substitution A T upstream_gene_variant PACA-AU 12 41830810 41830810 single base substitution G A intron_variant PACA-AU 12 41830810 41830810 single base substitution G A upstream_gene_variant PACA-AU 12 41837774 41837774 single base substitution T C intron_variant PACA-AU 12 41839901 41839901 single base substitution T G intron_variant PACA-AU 12 41841544 41841544 single base substitution C T intron_variant PACA-AU 12 41842820 41842820 single base substitution C T intron_variant PACA-AU 12 41842973 41842973 single base substitution A G intron_variant PACA-AU 12 41847809 41847809 single base substitution C A intron_variant PACA-AU 12 41848810 41848810 deletion of <=200bp A - intron_variant PACA-AU 12 41848996 41848996 single base substitution C A intron_variant PACA-AU 12 41850339 41850339 single base substitution T C intron_variant PACA-AU 12 41855661 41855661 single base substitution C A intron_variant PACA-AU 12 41855864 41855864 single base substitution C G intron_variant PACA-AU 12 41857167 41857167 single base substitution C T intron_variant PACA-AU 12 41858758 41858758 single base substitution C T intron_variant PACA-AU 12 41858767 41858767 single base substitution C T intron_variant PACA-AU 12 41861681 41861681 single base substitution T C intron_variant PACA-AU 12 41863962 41863962 single base substitution A G intron_variant PACA-AU 12 41866903 41866904 deletion of <=200bp TA - intron_variant PACA-AU 12 41866945 41866945 single base substitution A C intron_variant PACA-AU 12 41869084 41869084 single base substitution C A intron_variant PACA-AU 12 41872043 41872043 single base substitution G A intron_variant PACA-AU 12 41872087 41872087 single base substitution T G intron_variant PACA-AU 12 41872369 41872369 single base substitution A C intron_variant PACA-AU 12 41873539 41873539 single base substitution C G intron_variant PACA-AU 12 41874233 41874233 single base substitution G C intron_variant PACA-AU 12 41874324 41874324 single base substitution A T intron_variant PACA-AU 12 41874719 41874719 single base substitution C T intron_variant PACA-AU 12 41874864 41874864 single base substitution G A intron_variant PACA-AU 12 41875117 41875117 single base substitution T A intron_variant PACA-AU 12 41876702 41876702 single base substitution G T intron_variant PACA-AU 12 41877899 41877899 single base substitution T G intron_variant PACA-AU 12 41880504 41880504 single base substitution G T intron_variant PACA-AU 12 41886353 41886353 single base substitution T A intron_variant PACA-AU 12 41887130 41887130 single base substitution A G intron_variant PACA-AU 12 41888518 41888518 single base substitution G T intron_variant PACA-AU 12 41890817 41890817 single base substitution A C intron_variant PACA-AU 12 41891482 41891482 single base substitution C A intron_variant PACA-AU 12 41892190 41892190 single base substitution A C intron_variant PACA-AU 12 41893047 41893047 single base substitution T G intron_variant PACA-AU 12 41893428 41893428 single base substitution G A intron_variant PACA-AU 12 41895204 41895204 single base substitution C A intron_variant PACA-AU 12 41895880 41895880 single base substitution G C intron_variant PACA-AU 12 41896672 41896672 single base substitution T C intron_variant PACA-AU 12 41897336 41897336 insertion of <=200bp - A intron_variant PACA-AU 12 41898484 41898484 single base substitution T C intron_variant PACA-AU 12 41898484 41898484 single base substitution T C upstream_gene_variant PACA-AU 12 41899247 41899247 single base substitution C T intron_variant PACA-AU 12 41899247 41899247 single base substitution C T upstream_gene_variant PACA-AU 12 41899755 41899755 single base substitution G C intron_variant PACA-AU 12 41899755 41899755 single base substitution G C upstream_gene_variant PACA-AU 12 41899855 41899855 single base substitution G A intron_variant PACA-AU 12 41899855 41899855 single base substitution G A upstream_gene_variant PACA-AU 12 41899954 41899954 single base substitution C T intron_variant PACA-AU 12 41899954 41899954 single base substitution C T upstream_gene_variant PACA-AU 12 41901856 41901856 single base substitution T C intron_variant PACA-AU 12 41901856 41901856 single base substitution T C upstream_gene_variant PACA-AU 12 41902310 41902310 single base substitution G A intron_variant PACA-AU 12 41902310 41902310 single base substitution G A upstream_gene_variant PACA-AU 12 41902993 41902993 single base substitution G A intron_variant PACA-AU 12 41902993 41902993 single base substitution G A upstream_gene_variant PACA-AU 12 41903413 41903413 single base substitution A T exon_variant PACA-AU 12 41903413 41903413 single base substitution A T intron_variant PACA-AU 12 41903654 41903654 single base substitution A G exon_variant PACA-AU 12 41903654 41903654 single base substitution A G missense_variant D121G 362A>G PACA-AU 12 41903654 41903654 single base substitution A G missense_variant D123G 368A>G PACA-AU 12 41903654 41903654 single base substitution A G missense_variant D381G 1142A>G PACA-AU 12 41909380 41909380 single base substitution G A intron_variant PACA-AU 12 41912196 41912196 single base substitution T G intron_variant PACA-AU 12 41913487 41913487 single base substitution A T intron_variant PACA-AU 12 41916082 41916082 insertion of <=200bp - A intron_variant PACA-AU 12 41919657 41919657 single base substitution T A intron_variant PACA-AU 12 41920016 41920016 single base substitution C A intron_variant PACA-AU 12 41921029 41921029 single base substitution G A intron_variant PACA-AU 12 41924226 41924226 single base substitution G A intron_variant PACA-AU 12 41926635 41926635 single base substitution A G intron_variant PACA-AU 12 41926693 41926693 single base substitution T C intron_variant PACA-AU 12 41927317 41927317 single base substitution T C intron_variant PACA-AU 12 41929155 41929155 single base substitution T G intron_variant PACA-AU 12 41929754 41929754 single base substitution C A intron_variant PACA-AU 12 41931238 41931238 single base substitution C T intron_variant PACA-AU 12 41934975 41934975 single base substitution G A intron_variant PACA-AU 12 41936163 41936163 single base substitution T A intron_variant PACA-AU 12 41937144 41937144 single base substitution T A intron_variant PACA-AU 12 41937146 41937146 single base substitution A T intron_variant PACA-AU 12 41938874 41938874 single base substitution A G intron_variant PACA-AU 12 41941695 41941695 single base substitution C T intron_variant PACA-AU 12 41944289 41944289 single base substitution G A intron_variant PACA-AU 12 41945738 41945738 single base substitution T C intron_variant PACA-AU 12 41947185 41947185 single base substitution G A intron_variant PACA-AU 12 41952148 41952148 single base substitution C A intron_variant PACA-AU 12 41954200 41954200 single base substitution G A intron_variant PACA-AU 12 41954697 41954697 single base substitution G A intron_variant PACA-AU 12 41955076 41955076 single base substitution C T intron_variant PACA-AU 12 41955761 41955761 single base substitution G T intron_variant PACA-AU 12 41955902 41955902 single base substitution C A intron_variant PACA-AU 12 41957375 41957375 single base substitution G A exon_variant PACA-AU 12 41957375 41957375 single base substitution G A missense_variant R204Q 611G>A PACA-AU 12 41957375 41957375 single base substitution G A missense_variant R206Q 617G>A PACA-AU 12 41957375 41957375 single base substitution G A missense_variant R464Q 1391G>A PACA-AU 12 41958891 41958891 single base substitution T G intron_variant PACA-AU 12 41959423 41959423 single base substitution G T intron_variant PACA-AU 12 41961015 41961015 single base substitution G A intron_variant PACA-AU 12 41961758 41961758 single base substitution G A intron_variant PACA-AU 12 41962797 41962797 single base substitution G T intron_variant PACA-AU 12 41962798 41962798 single base substitution G T intron_variant PACA-AU 12 41962938 41962938 single base substitution T A intron_variant PACA-AU 12 41964846 41964846 single base substitution C T intron_variant PACA-AU 12 41966747 41966747 single base substitution T C exon_variant PACA-AU 12 41966747 41966747 single base substitution T C synonymous_variant D462D 1386T>C PACA-AU 12 41966747 41966747 single base substitution T C synonymous_variant D464D 1392T>C PACA-AU 12 41966747 41966747 single base substitution T C synonymous_variant D722D 2166T>C PACA-AU 12 41967030 41967030 single base substitution C G exon_variant PACA-AU 12 41967030 41967030 single base substitution C G missense_variant P557A 1669C>G PACA-AU 12 41967030 41967030 single base substitution C G missense_variant P559A 1675C>G PACA-AU 12 41967030 41967030 single base substitution C G missense_variant P817A 2449C>G PACA-AU 12 41967266 41967266 single base substitution C T exon_variant PACA-AU 12 41967266 41967266 single base substitution C T synonymous_variant S635S 1905C>T PACA-AU 12 41967266 41967266 single base substitution C T synonymous_variant S637S 1911C>T PACA-AU 12 41967266 41967266 single base substitution C T synonymous_variant S895S 2685C>T PACA-AU 12 41967345 41967345 single base substitution C T exon_variant PACA-AU 12 41967345 41967345 single base substitution C T missense_variant R662W 1984C>T PACA-AU 12 41967345 41967345 single base substitution C T missense_variant R664W 1990C>T PACA-AU 12 41967345 41967345 single base substitution C T missense_variant R922W 2764C>T PACA-AU 12 41970494 41970494 single base substitution T G downstream_gene_variant PACA-AU 12 41972193 41972193 single base substitution C G downstream_gene_variant PACA-CA 12 41578082 41578082 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 41578590 41578590 single base substitution G T upstream_gene_variant PACA-CA 12 41578712 41578712 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 41579366 41579366 single base substitution C A upstream_gene_variant PACA-CA 12 41579921 41579921 single base substitution T A upstream_gene_variant PACA-CA 12 41580141 41580141 single base substitution C T upstream_gene_variant PACA-CA 12 41583578 41583578 insertion of <=200bp - GA intron_variant PACA-CA 12 41583631 41583631 single base substitution C T intron_variant PACA-CA 12 41584395 41584395 single base substitution A G intron_variant PACA-CA 12 41584653 41584653 insertion of <=200bp - A intron_variant PACA-CA 12 41586786 41586786 single base substitution A T intron_variant PACA-CA 12 41587168 41587168 single base substitution T A intron_variant PACA-CA 12 41588738 41588738 single base substitution T A intron_variant PACA-CA 12 41590563 41590563 single base substitution G C intron_variant PACA-CA 12 41590732 41590732 single base substitution A G intron_variant PACA-CA 12 41591116 41591116 single base substitution G A intron_variant PACA-CA 12 41591895 41591895 single base substitution T A intron_variant PACA-CA 12 41595478 41595478 single base substitution G C intron_variant PACA-CA 12 41595670 41595670 single base substitution A G intron_variant PACA-CA 12 41596525 41596525 single base substitution T A intron_variant PACA-CA 12 41596526 41596526 single base substitution C T intron_variant PACA-CA 12 41600166 41600166 single base substitution T C intron_variant PACA-CA 12 41601577 41601577 single base substitution C T intron_variant PACA-CA 12 41601936 41601936 single base substitution G A intron_variant PACA-CA 12 41602617 41602617 insertion of <=200bp - T intron_variant PACA-CA 12 41602768 41602768 single base substitution T G intron_variant PACA-CA 12 41603962 41603962 single base substitution T C intron_variant PACA-CA 12 41611250 41611250 single base substitution G T intron_variant PACA-CA 12 41614408 41614408 single base substitution G T intron_variant PACA-CA 12 41616080 41616080 single base substitution A T intron_variant PACA-CA 12 41616542 41616542 single base substitution A T intron_variant PACA-CA 12 41618113 41618113 single base substitution T A intron_variant PACA-CA 12 41619069 41619069 single base substitution T C intron_variant PACA-CA 12 41621835 41621835 single base substitution G A intron_variant PACA-CA 12 41622788 41622788 single base substitution A T intron_variant PACA-CA 12 41624453 41624453 single base substitution G A intron_variant PACA-CA 12 41624778 41624778 single base substitution G T intron_variant PACA-CA 12 41625856 41625856 deletion of <=200bp T - intron_variant PACA-CA 12 41626112 41626112 single base substitution G A intron_variant PACA-CA 12 41627681 41627681 single base substitution T G intron_variant PACA-CA 12 41630753 41630753 single base substitution C A intron_variant PACA-CA 12 41634366 41634366 single base substitution A T intron_variant PACA-CA 12 41637339 41637339 single base substitution C T intron_variant PACA-CA 12 41637615 41637615 single base substitution A T intron_variant PACA-CA 12 41638297 41638297 single base substitution C A intron_variant PACA-CA 12 41639162 41639162 single base substitution C A intron_variant PACA-CA 12 41639176 41639176 single base substitution A C intron_variant PACA-CA 12 41639261 41639261 single base substitution G T intron_variant PACA-CA 12 41645092 41645092 single base substitution G C intron_variant PACA-CA 12 41645711 41645711 single base substitution G T intron_variant PACA-CA 12 41647829 41647829 single base substitution G A intron_variant PACA-CA 12 41648709 41648709 single base substitution G A intron_variant PACA-CA 12 41649004 41649004 single base substitution G A intron_variant PACA-CA 12 41652624 41652624 single base substitution A G intron_variant PACA-CA 12 41652782 41652782 single base substitution A G intron_variant PACA-CA 12 41654154 41654154 single base substitution T C intron_variant PACA-CA 12 41654178 41654178 single base substitution G C intron_variant PACA-CA 12 41654179 41654179 single base substitution G T intron_variant PACA-CA 12 41654238 41654238 single base substitution A T intron_variant PACA-CA 12 41656292 41656292 single base substitution G T intron_variant PACA-CA 12 41656776 41656776 single base substitution A T intron_variant PACA-CA 12 41657798 41657798 single base substitution C T intron_variant PACA-CA 12 41660925 41660925 single base substitution G C intron_variant PACA-CA 12 41662642 41662642 single base substitution G A intron_variant PACA-CA 12 41663778 41663778 single base substitution C A intron_variant PACA-CA 12 41668676 41668676 deletion of <=200bp A - intron_variant PACA-CA 12 41669390 41669390 single base substitution G T intron_variant PACA-CA 12 41670850 41670850 single base substitution A C intron_variant PACA-CA 12 41671877 41671877 single base substitution A C intron_variant PACA-CA 12 41671915 41671915 single base substitution T C intron_variant PACA-CA 12 41672852 41672852 single base substitution C T intron_variant PACA-CA 12 41675737 41675737 single base substitution C T intron_variant PACA-CA 12 41676478 41676478 single base substitution C T intron_variant PACA-CA 12 41676837 41676837 single base substitution G A intron_variant PACA-CA 12 41676899 41676899 insertion of <=200bp - A intron_variant PACA-CA 12 41677976 41677976 single base substitution A G intron_variant PACA-CA 12 41679259 41679259 single base substitution A C intron_variant PACA-CA 12 41681839 41681839 single base substitution G A intron_variant PACA-CA 12 41684804 41684804 single base substitution C A intron_variant PACA-CA 12 41684834 41684834 single base substitution A T intron_variant PACA-CA 12 41685028 41685028 single base substitution C T intron_variant PACA-CA 12 41685154 41685154 single base substitution C T intron_variant PACA-CA 12 41686404 41686404 single base substitution C G intron_variant PACA-CA 12 41686819 41686819 single base substitution G A intron_variant PACA-CA 12 41689504 41689504 single base substitution C T intron_variant PACA-CA 12 41690957 41690957 single base substitution T C intron_variant PACA-CA 12 41691782 41691782 single base substitution T A intron_variant PACA-CA 12 41692315 41692315 single base substitution A T intron_variant PACA-CA 12 41696943 41696943 single base substitution G A intron_variant PACA-CA 12 41697664 41697664 single base substitution G C intron_variant PACA-CA 12 41700928 41700928 deletion of <=200bp T - intron_variant PACA-CA 12 41702222 41702222 single base substitution C T intron_variant PACA-CA 12 41702322 41702322 single base substitution T G intron_variant PACA-CA 12 41705266 41705266 single base substitution G C intron_variant PACA-CA 12 41705388 41705388 single base substitution G C intron_variant PACA-CA 12 41705739 41705739 insertion of <=200bp - T intron_variant PACA-CA 12 41705876 41705876 single base substitution G T intron_variant PACA-CA 12 41706624 41706624 single base substitution T C intron_variant PACA-CA 12 41706672 41706672 single base substitution A T intron_variant PACA-CA 12 41707740 41707740 single base substitution C T intron_variant PACA-CA 12 41708471 41708471 single base substitution G A intron_variant PACA-CA 12 41709503 41709503 single base substitution G T intron_variant PACA-CA 12 41711765 41711765 single base substitution G A intron_variant PACA-CA 12 41711796 41711796 single base substitution A T intron_variant PACA-CA 12 41712547 41712547 single base substitution G T intron_variant PACA-CA 12 41713814 41713814 single base substitution C T intron_variant PACA-CA 12 41714374 41714374 single base substitution G A intron_variant PACA-CA 12 41716000 41716000 deletion of <=200bp T - intron_variant PACA-CA 12 41716240 41716240 single base substitution A T intron_variant PACA-CA 12 41719951 41719951 insertion of <=200bp - ATTTTTGC intron_variant PACA-CA 12 41720130 41720130 single base substitution C T intron_variant PACA-CA 12 41724220 41724220 single base substitution C T intron_variant PACA-CA 12 41724412 41724412 single base substitution T C intron_variant PACA-CA 12 41725104 41725104 single base substitution G A intron_variant PACA-CA 12 41725489 41725489 single base substitution A G intron_variant PACA-CA 12 41729023 41729023 single base substitution T A intron_variant PACA-CA 12 41730386 41730386 single base substitution A G intron_variant PACA-CA 12 41733487 41733487 single base substitution T G intron_variant PACA-CA 12 41733582 41733582 single base substitution C A intron_variant PACA-CA 12 41734510 41734510 single base substitution A T intron_variant PACA-CA 12 41735929 41735929 single base substitution G C intron_variant PACA-CA 12 41736903 41736903 single base substitution G A intron_variant PACA-CA 12 41737192 41737192 single base substitution G T intron_variant PACA-CA 12 41737490 41737490 single base substitution T C intron_variant PACA-CA 12 41737616 41737616 insertion of <=200bp - AT intron_variant PACA-CA 12 41738410 41738410 single base substitution G C intron_variant PACA-CA 12 41741616 41741616 single base substitution T A intron_variant PACA-CA 12 41741740 41741740 single base substitution C T intron_variant PACA-CA 12 41742537 41742537 deletion of <=200bp T - intron_variant PACA-CA 12 41743602 41743602 single base substitution C T intron_variant PACA-CA 12 41744940 41744940 single base substitution C T intron_variant PACA-CA 12 41745529 41745529 single base substitution A T intron_variant PACA-CA 12 41745580 41745580 single base substitution G T intron_variant PACA-CA 12 41746904 41746904 single base substitution C A intron_variant PACA-CA 12 41747723 41747723 single base substitution G A intron_variant PACA-CA 12 41747922 41747922 single base substitution C T intron_variant PACA-CA 12 41749600 41749600 single base substitution T G intron_variant PACA-CA 12 41750011 41750011 single base substitution A C intron_variant PACA-CA 12 41753186 41753186 single base substitution C A intron_variant PACA-CA 12 41753609 41753609 single base substitution C T intron_variant PACA-CA 12 41755713 41755713 single base substitution C T intron_variant PACA-CA 12 41758552 41758552 single base substitution T C intron_variant PACA-CA 12 41759688 41759688 single base substitution G A intron_variant PACA-CA 12 41759854 41759854 single base substitution C A intron_variant PACA-CA 12 41760738 41760738 single base substitution A G intron_variant PACA-CA 12 41761642 41761642 insertion of <=200bp - A intron_variant PACA-CA 12 41763460 41763460 single base substitution C T intron_variant PACA-CA 12 41763657 41763657 single base substitution C T intron_variant PACA-CA 12 41764210 41764210 single base substitution G A intron_variant PACA-CA 12 41765319 41765319 single base substitution G A intron_variant PACA-CA 12 41766615 41766615 single base substitution G T intron_variant PACA-CA 12 41767561 41767561 single base substitution C G intron_variant PACA-CA 12 41767830 41767830 single base substitution G T intron_variant PACA-CA 12 41767975 41767975 single base substitution C T intron_variant PACA-CA 12 41768916 41768916 single base substitution C G intron_variant PACA-CA 12 41769506 41769506 single base substitution T G intron_variant PACA-CA 12 41769882 41769882 deletion of <=200bp T - intron_variant PACA-CA 12 41771443 41771443 single base substitution T C intron_variant PACA-CA 12 41772095 41772095 single base substitution T A intron_variant PACA-CA 12 41772636 41772636 single base substitution T A intron_variant PACA-CA 12 41772704 41772704 single base substitution G A intron_variant PACA-CA 12 41773394 41773394 single base substitution G C intron_variant PACA-CA 12 41775147 41775147 single base substitution C T intron_variant PACA-CA 12 41775616 41775616 single base substitution G A intron_variant PACA-CA 12 41776284 41776284 single base substitution C A intron_variant PACA-CA 12 41778195 41778195 single base substitution T C intron_variant PACA-CA 12 41779011 41779011 single base substitution A C intron_variant PACA-CA 12 41780129 41780129 single base substitution G T intron_variant PACA-CA 12 41780220 41780220 single base substitution G T intron_variant PACA-CA 12 41781348 41781348 single base substitution C T intron_variant PACA-CA 12 41781645 41781645 single base substitution T A intron_variant PACA-CA 12 41782540 41782540 single base substitution T A intron_variant PACA-CA 12 41783975 41783975 single base substitution G A intron_variant PACA-CA 12 41784062 41784062 single base substitution C T intron_variant PACA-CA 12 41784985 41784985 single base substitution A G intron_variant PACA-CA 12 41787150 41787150 single base substitution G A intron_variant PACA-CA 12 41788926 41788926 single base substitution T C intron_variant PACA-CA 12 41789071 41789071 single base substitution C T intron_variant PACA-CA 12 41789295 41789295 single base substitution C T intron_variant PACA-CA 12 41789750 41789750 insertion of <=200bp - T intron_variant PACA-CA 12 41789803 41789803 single base substitution A C intron_variant PACA-CA 12 41791083 41791083 single base substitution G A intron_variant PACA-CA 12 41791991 41791991 single base substitution G A intron_variant PACA-CA 12 41792501 41792501 single base substitution C A intron_variant PACA-CA 12 41793035 41793035 insertion of <=200bp - A intron_variant PACA-CA 12 41793553 41793553 single base substitution G T intron_variant PACA-CA 12 41793825 41793825 single base substitution C G intron_variant PACA-CA 12 41794974 41794974 single base substitution G A intron_variant PACA-CA 12 41795820 41795820 single base substitution G A intron_variant PACA-CA 12 41795889 41795889 single base substitution G A intron_variant PACA-CA 12 41796517 41796517 single base substitution G T intron_variant PACA-CA 12 41797985 41797985 single base substitution C T intron_variant PACA-CA 12 41799137 41799137 single base substitution C G intron_variant PACA-CA 12 41800278 41800278 single base substitution C T intron_variant PACA-CA 12 41800592 41800592 single base substitution G A intron_variant PACA-CA 12 41800852 41800852 single base substitution A G intron_variant PACA-CA 12 41801139 41801139 single base substitution G T intron_variant PACA-CA 12 41801507 41801507 single base substitution C A intron_variant PACA-CA 12 41801582 41801582 single base substitution A C intron_variant PACA-CA 12 41804006 41804010 deletion of <=200bp AACAC - intron_variant PACA-CA 12 41804010 41804010 single base substitution C A intron_variant PACA-CA 12 41804507 41804507 single base substitution A T intron_variant PACA-CA 12 41804775 41804775 single base substitution G A intron_variant PACA-CA 12 41805921 41805921 single base substitution G A intron_variant PACA-CA 12 41806334 41806334 single base substitution A T intron_variant PACA-CA 12 41806634 41806634 single base substitution G A intron_variant PACA-CA 12 41806929 41806929 single base substitution C A intron_variant PACA-CA 12 41807476 41807476 insertion of <=200bp - T intron_variant PACA-CA 12 41809067 41809067 single base substitution A G intron_variant PACA-CA 12 41811661 41811661 single base substitution G T intron_variant PACA-CA 12 41812073 41812073 single base substitution C T intron_variant PACA-CA 12 41812599 41812599 single base substitution T C intron_variant PACA-CA 12 41812724 41812724 single base substitution T C intron_variant PACA-CA 12 41813064 41813064 single base substitution C T intron_variant PACA-CA 12 41813436 41813436 single base substitution G T intron_variant PACA-CA 12 41813651 41813651 single base substitution T G intron_variant PACA-CA 12 41815450 41815450 single base substitution G A intron_variant PACA-CA 12 41815808 41815808 single base substitution A C intron_variant PACA-CA 12 41816225 41816225 single base substitution A T intron_variant PACA-CA 12 41816647 41816647 single base substitution G A intron_variant PACA-CA 12 41816892 41816892 insertion of <=200bp - T intron_variant PACA-CA 12 41816957 41816957 single base substitution T G intron_variant PACA-CA 12 41817864 41817864 single base substitution C G intron_variant PACA-CA 12 41820100 41820100 single base substitution C A intron_variant PACA-CA 12 41822694 41822694 single base substitution G C intron_variant PACA-CA 12 41823514 41823514 single base substitution T A intron_variant PACA-CA 12 41823544 41823544 single base substitution C G intron_variant PACA-CA 12 41825715 41825715 insertion of <=200bp - A intron_variant PACA-CA 12 41826572 41826572 single base substitution C A intron_variant PACA-CA 12 41826572 41826572 single base substitution C A upstream_gene_variant PACA-CA 12 41827451 41827451 single base substitution A C intron_variant PACA-CA 12 41827451 41827451 single base substitution A C upstream_gene_variant PACA-CA 12 41828626 41828626 single base substitution G A intron_variant PACA-CA 12 41828626 41828626 single base substitution G A upstream_gene_variant PACA-CA 12 41830406 41830406 single base substitution C A intron_variant PACA-CA 12 41830406 41830406 single base substitution C A upstream_gene_variant PACA-CA 12 41832989 41832989 single base substitution C A intron_variant PACA-CA 12 41834909 41834909 single base substitution G A intron_variant PACA-CA 12 41835566 41835566 single base substitution C T intron_variant PACA-CA 12 41836583 41836583 single base substitution T C intron_variant PACA-CA 12 41836619 41836619 single base substitution C T intron_variant PACA-CA 12 41837709 41837709 single base substitution G A intron_variant PACA-CA 12 41837930 41837930 single base substitution C T intron_variant PACA-CA 12 41839168 41839168 single base substitution T A intron_variant PACA-CA 12 41839607 41839607 single base substitution A G intron_variant PACA-CA 12 41840772 41840772 single base substitution T C intron_variant PACA-CA 12 41841144 41841144 single base substitution T G intron_variant PACA-CA 12 41842869 41842877 deletion of <=200bp AAATGATAG - intron_variant PACA-CA 12 41843933 41843933 deletion of <=200bp C - intron_variant PACA-CA 12 41844495 41844495 single base substitution G A intron_variant PACA-CA 12 41846297 41846297 single base substitution A T intron_variant PACA-CA 12 41847576 41847576 single base substitution G C intron_variant PACA-CA 12 41847799 41847799 single base substitution T C intron_variant PACA-CA 12 41848698 41848698 single base substitution T C intron_variant PACA-CA 12 41849485 41849485 single base substitution A G intron_variant PACA-CA 12 41849663 41849663 single base substitution C A intron_variant PACA-CA 12 41850248 41850248 single base substitution T C intron_variant PACA-CA 12 41850552 41850552 single base substitution C T intron_variant PACA-CA 12 41855360 41855360 single base substitution T C intron_variant PACA-CA 12 41856957 41856957 single base substitution T C intron_variant PACA-CA 12 41857699 41857699 single base substitution C T intron_variant PACA-CA 12 41860903 41860903 single base substitution C T intron_variant PACA-CA 12 41861300 41861300 single base substitution G T intron_variant PACA-CA 12 41861618 41861618 single base substitution A C intron_variant PACA-CA 12 41861973 41861973 single base substitution A C intron_variant PACA-CA 12 41863549 41863549 single base substitution C T intron_variant PACA-CA 12 41864057 41864057 single base substitution G T intron_variant PACA-CA 12 41864303 41864303 single base substitution T A intron_variant PACA-CA 12 41865891 41865891 single base substitution C T intron_variant PACA-CA 12 41866526 41866526 single base substitution G A intron_variant PACA-CA 12 41867175 41867175 single base substitution T A intron_variant PACA-CA 12 41868070 41868070 single base substitution T C intron_variant PACA-CA 12 41868343 41868343 single base substitution A T intron_variant PACA-CA 12 41869393 41869393 single base substitution T C intron_variant PACA-CA 12 41873380 41873380 single base substitution C A intron_variant PACA-CA 12 41874947 41874947 single base substitution G A intron_variant PACA-CA 12 41876907 41876907 single base substitution G A intron_variant PACA-CA 12 41877760 41877760 single base substitution T A intron_variant PACA-CA 12 41878013 41878013 single base substitution G C intron_variant PACA-CA 12 41878505 41878505 single base substitution C T intron_variant PACA-CA 12 41878548 41878548 single base substitution G A intron_variant PACA-CA 12 41879192 41879192 single base substitution G A intron_variant PACA-CA 12 41882354 41882354 single base substitution C G intron_variant PACA-CA 12 41882639 41882639 single base substitution C G intron_variant PACA-CA 12 41882755 41882755 single base substitution C T intron_variant PACA-CA 12 41883514 41883514 single base substitution C T intron_variant PACA-CA 12 41883651 41883651 single base substitution A T intron_variant PACA-CA 12 41886303 41886303 single base substitution C A intron_variant PACA-CA 12 41888179 41888179 single base substitution T C intron_variant PACA-CA 12 41890307 41890307 single base substitution C T intron_variant PACA-CA 12 41891010 41891010 single base substitution A C intron_variant PACA-CA 12 41891058 41891058 insertion of <=200bp - T intron_variant PACA-CA 12 41891098 41891098 deletion of <=200bp T - intron_variant PACA-CA 12 41891154 41891154 single base substitution T G intron_variant PACA-CA 12 41894317 41894317 single base substitution T G intron_variant PACA-CA 12 41896680 41896680 single base substitution T G intron_variant PACA-CA 12 41896698 41896698 deletion of <=200bp A - intron_variant PACA-CA 12 41897206 41897206 single base substitution A G intron_variant PACA-CA 12 41898450 41898450 single base substitution G A intron_variant PACA-CA 12 41898450 41898450 single base substitution G A upstream_gene_variant PACA-CA 12 41899264 41899264 single base substitution G T intron_variant PACA-CA 12 41899264 41899264 single base substitution G T upstream_gene_variant PACA-CA 12 41899525 41899525 single base substitution T C intron_variant PACA-CA 12 41899525 41899525 single base substitution T C upstream_gene_variant PACA-CA 12 41899919 41899919 single base substitution G T intron_variant PACA-CA 12 41899919 41899919 single base substitution G T upstream_gene_variant PACA-CA 12 41900257 41900257 single base substitution G A splice_acceptor_variant PACA-CA 12 41900257 41900257 single base substitution G A upstream_gene_variant PACA-CA 12 41900410 41900410 single base substitution C A synonymous_variant A332A 996C>A PACA-CA 12 41900410 41900410 single base substitution C A synonymous_variant A72A 216C>A PACA-CA 12 41900410 41900410 single base substitution C A synonymous_variant A74A 222C>A PACA-CA 12 41900410 41900410 single base substitution C A upstream_gene_variant PACA-CA 12 41900713 41900713 single base substitution A G intron_variant PACA-CA 12 41900713 41900713 single base substitution A G upstream_gene_variant PACA-CA 12 41901932 41901932 single base substitution C G intron_variant PACA-CA 12 41901932 41901932 single base substitution C G upstream_gene_variant PACA-CA 12 41906560 41906560 single base substitution C T intron_variant PACA-CA 12 41907193 41907193 single base substitution G C intron_variant PACA-CA 12 41909526 41909526 single base substitution T C intron_variant PACA-CA 12 41910343 41910343 single base substitution T C intron_variant PACA-CA 12 41916235 41916235 deletion of <=200bp T - intron_variant PACA-CA 12 41918406 41918406 single base substitution G A intron_variant PACA-CA 12 41921908 41921908 single base substitution T C intron_variant PACA-CA 12 41923691 41923691 single base substitution C G intron_variant PACA-CA 12 41925259 41925259 single base substitution G A intron_variant PACA-CA 12 41927142 41927142 single base substitution A T intron_variant PACA-CA 12 41928503 41928503 single base substitution A T intron_variant PACA-CA 12 41930195 41930195 single base substitution A G intron_variant PACA-CA 12 41930835 41930835 single base substitution G A intron_variant PACA-CA 12 41933800 41933800 single base substitution C T intron_variant PACA-CA 12 41933885 41933885 single base substitution T G intron_variant PACA-CA 12 41937144 41937144 single base substitution T A intron_variant PACA-CA 12 41942374 41942374 single base substitution A G intron_variant PACA-CA 12 41943660 41943660 single base substitution A T intron_variant PACA-CA 12 41946102 41946102 single base substitution G C intron_variant PACA-CA 12 41948894 41948894 single base substitution G A intron_variant PACA-CA 12 41949252 41949252 single base substitution G A intron_variant PACA-CA 12 41949468 41949468 single base substitution C T intron_variant PACA-CA 12 41953850 41953850 single base substitution A G intron_variant PACA-CA 12 41954083 41954083 insertion of <=200bp - A intron_variant PACA-CA 12 41954538 41954538 single base substitution C G intron_variant PACA-CA 12 41956016 41956016 single base substitution T A intron_variant PACA-CA 12 41957630 41957630 single base substitution T C intron_variant PACA-CA 12 41958589 41958589 single base substitution T C intron_variant PACA-CA 12 41958858 41958858 single base substitution G T intron_variant PACA-CA 12 41960321 41960321 single base substitution G A intron_variant PACA-CA 12 41964854 41964854 single base substitution C A intron_variant PACA-CA 12 41965176 41965176 single base substitution T A intron_variant PACA-CA 12 41967086 41967086 single base substitution C T exon_variant PACA-CA 12 41967086 41967086 single base substitution C T synonymous_variant S575S 1725C>T PACA-CA 12 41967086 41967086 single base substitution C T synonymous_variant S577S 1731C>T PACA-CA 12 41967086 41967086 single base substitution C T synonymous_variant S835S 2505C>T PACA-CA 12 41967120 41967120 single base substitution G A exon_variant PACA-CA 12 41967120 41967120 single base substitution G A missense_variant A587T 1759G>A PACA-CA 12 41967120 41967120 single base substitution G A missense_variant A589T 1765G>A PACA-CA 12 41967120 41967120 single base substitution G A missense_variant A847T 2539G>A PACA-CA 12 41968750 41968750 single base substitution C A downstream_gene_variant PACA-CA 12 41971414 41971414 single base substitution G C downstream_gene_variant PACA-CA 12 41971574 41971574 single base substitution T C downstream_gene_variant PACA-CA 12 41971613 41971616 deletion of <=200bp CTGT - downstream_gene_variant PACA-CA 12 41972159 41972159 single base substitution A T downstream_gene_variant PAEN-AU 12 41581338 41581338 single base substitution T G upstream_gene_variant PAEN-AU 12 41622146 41622146 single base substitution A C intron_variant PAEN-AU 12 41693069 41693069 single base substitution A G intron_variant PAEN-AU 12 41719952 41719952 insertion of <=200bp - ATTTTTGC intron_variant PAEN-AU 12 41740843 41740843 single base substitution T C intron_variant PAEN-AU 12 41758918 41758918 single base substitution C T intron_variant PAEN-AU 12 41769444 41769444 single base substitution G A intron_variant PAEN-AU 12 41785593 41785593 single base substitution G A intron_variant PAEN-AU 12 41806379 41806379 single base substitution A C intron_variant PAEN-AU 12 41807115 41807115 deletion of <=200bp G - intron_variant PAEN-AU 12 41821621 41821621 single base substitution C T intron_variant PAEN-AU 12 41846247 41846247 single base substitution A C intron_variant PAEN-AU 12 41854194 41854194 single base substitution G T intron_variant PAEN-AU 12 41863311 41863311 single base substitution A C intron_variant PAEN-AU 12 41879494 41879494 single base substitution C G intron_variant PAEN-AU 12 41883963 41883963 single base substitution C T intron_variant PAEN-AU 12 41890885 41890885 single base substitution G A intron_variant PAEN-AU 12 41900011 41900011 single base substitution T G intron_variant PAEN-AU 12 41900011 41900011 single base substitution T G upstream_gene_variant PAEN-AU 12 41932772 41932772 single base substitution A G intron_variant PAEN-AU 12 41952914 41952914 single base substitution T G intron_variant PAEN-AU 12 41963814 41963814 single base substitution G A intron_variant PAEN-IT 12 41593132 41593132 single base substitution A G intron_variant PAEN-IT 12 41595351 41595351 single base substitution G C intron_variant PAEN-IT 12 41620084 41620084 single base substitution C G intron_variant PAEN-IT 12 41626988 41626988 single base substitution A T intron_variant PAEN-IT 12 41636153 41636153 single base substitution G C intron_variant PAEN-IT 12 41650014 41650014 single base substitution A G intron_variant PAEN-IT 12 41713213 41713213 single base substitution C T intron_variant PAEN-IT 12 41723035 41723035 single base substitution C T intron_variant PAEN-IT 12 41726960 41726960 single base substitution G T intron_variant PAEN-IT 12 41729029 41729029 single base substitution T A intron_variant PAEN-IT 12 41781975 41781975 single base substitution G T intron_variant PAEN-IT 12 41826136 41826136 single base substitution T C intron_variant PAEN-IT 12 41880387 41880387 single base substitution A G intron_variant PBCA-DE 12 41578083 41578083 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 41583579 41583580 deletion of <=200bp GA - intron_variant PBCA-DE 12 41584756 41584756 single base substitution A T intron_variant PBCA-DE 12 41603058 41603058 single base substitution G C intron_variant PBCA-DE 12 41606308 41606308 single base substitution T A intron_variant PBCA-DE 12 41632217 41632217 single base substitution C A intron_variant PBCA-DE 12 41636431 41636432 deletion of <=200bp AC - intron_variant PBCA-DE 12 41638673 41638678 deletion of <=200bp AGACGA - intron_variant PBCA-DE 12 41642950 41642950 single base substitution G T intron_variant PBCA-DE 12 41643087 41643087 single base substitution A G intron_variant PBCA-DE 12 41651601 41651601 single base substitution C T intron_variant PBCA-DE 12 41653444 41653444 single base substitution G T intron_variant PBCA-DE 12 41661262 41661262 single base substitution C A intron_variant PBCA-DE 12 41675085 41675085 single base substitution A G intron_variant PBCA-DE 12 41678098 41678098 single base substitution A G intron_variant PBCA-DE 12 41680106 41680106 single base substitution A T intron_variant PBCA-DE 12 41681581 41681581 single base substitution C A intron_variant PBCA-DE 12 41682318 41682318 single base substitution T C intron_variant PBCA-DE 12 41686881 41686881 single base substitution C T intron_variant PBCA-DE 12 41717163 41717163 single base substitution C A intron_variant PBCA-DE 12 41725492 41725492 single base substitution T C intron_variant PBCA-DE 12 41738950 41738950 single base substitution C A intron_variant PBCA-DE 12 41743119 41743119 single base substitution C A intron_variant PBCA-DE 12 41744431 41744431 single base substitution G A intron_variant PBCA-DE 12 41746807 41746807 single base substitution A G intron_variant PBCA-DE 12 41752084 41752084 single base substitution C A intron_variant PBCA-DE 12 41759171 41759171 insertion of <=200bp - T intron_variant PBCA-DE 12 41760853 41760853 single base substitution C A intron_variant PBCA-DE 12 41764321 41764321 single base substitution C T intron_variant PBCA-DE 12 41767509 41767509 single base substitution T C intron_variant PBCA-DE 12 41768420 41768420 insertion of <=200bp - A intron_variant PBCA-DE 12 41769245 41769245 single base substitution G T intron_variant PBCA-DE 12 41770706 41770706 single base substitution G A intron_variant PBCA-DE 12 41773624 41773624 single base substitution G C intron_variant PBCA-DE 12 41775364 41775364 single base substitution C A intron_variant PBCA-DE 12 41778498 41778498 single base substitution G C intron_variant PBCA-DE 12 41786567 41786567 single base substitution C T intron_variant PBCA-DE 12 41791142 41791142 insertion of <=200bp - A intron_variant PBCA-DE 12 41791802 41791802 single base substitution G A intron_variant PBCA-DE 12 41802561 41802562 deletion of <=200bp TC - intron_variant PBCA-DE 12 41803753 41803753 single base substitution T C intron_variant PBCA-DE 12 41807628 41807628 single base substitution T G intron_variant PBCA-DE 12 41810293 41810293 deletion of <=200bp A - intron_variant PBCA-DE 12 41817627 41817627 single base substitution T C intron_variant PBCA-DE 12 41822754 41822754 single base substitution C G intron_variant PBCA-DE 12 41827091 41827091 single base substitution G A intron_variant PBCA-DE 12 41827091 41827091 single base substitution G A upstream_gene_variant PBCA-DE 12 41828196 41828197 deletion of <=200bp GT - intron_variant PBCA-DE 12 41828196 41828197 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 12 41828487 41828487 single base substitution T C intron_variant PBCA-DE 12 41828487 41828487 single base substitution T C upstream_gene_variant PBCA-DE 12 41835521 41835521 single base substitution A T intron_variant PBCA-DE 12 41840048 41840048 insertion of <=200bp - TTTATTTATTTATTTA intron_variant PBCA-DE 12 41842531 41842531 single base substitution A G intron_variant PBCA-DE 12 41856189 41856189 single base substitution C T intron_variant PBCA-DE 12 41857058 41857058 single base substitution C A intron_variant PBCA-DE 12 41858820 41858820 deletion of <=200bp T - intron_variant PBCA-DE 12 41859694 41859694 insertion of <=200bp - T intron_variant PBCA-DE 12 41862526 41862526 single base substitution G A intron_variant PBCA-DE 12 41862585 41862585 single base substitution G A intron_variant PBCA-DE 12 41869572 41869572 single base substitution G C intron_variant PBCA-DE 12 41870736 41870736 single base substitution T C intron_variant PBCA-DE 12 41874161 41874161 single base substitution C A intron_variant PBCA-DE 12 41874402 41874402 single base substitution C T intron_variant PBCA-DE 12 41875585 41875585 single base substitution T C intron_variant PBCA-DE 12 41885698 41885698 single base substitution C A intron_variant PBCA-DE 12 41887702 41887702 single base substitution A T intron_variant PBCA-DE 12 41887848 41887848 insertion of <=200bp - T intron_variant PBCA-DE 12 41891121 41891121 single base substitution G T intron_variant PBCA-DE 12 41894947 41894947 single base substitution C T intron_variant PBCA-DE 12 41897660 41897660 single base substitution T C intron_variant PBCA-DE 12 41910196 41910196 single base substitution T C intron_variant PBCA-DE 12 41911783 41911783 single base substitution A C intron_variant PBCA-DE 12 41916785 41916785 single base substitution C T intron_variant PBCA-DE 12 41921427 41921427 single base substitution G A intron_variant PBCA-DE 12 41939312 41939313 deletion of <=200bp TG - intron_variant PBCA-DE 12 41941999 41941999 single base substitution C T intron_variant PBCA-DE 12 41943566 41943566 deletion of <=200bp G - intron_variant PBCA-DE 12 41946303 41946303 single base substitution G T intron_variant PBCA-DE 12 41948624 41948625 deletion of <=200bp TG - intron_variant PBCA-DE 12 41948963 41948963 single base substitution G T intron_variant PBCA-DE 12 41959559 41959559 single base substitution A C intron_variant PBCA-DE 12 41970378 41970378 single base substitution A T downstream_gene_variant PBCA-DE 12 41970436 41970436 single base substitution T C downstream_gene_variant PRAD-CA 12 41590408 41590408 single base substitution C A intron_variant PRAD-CA 12 41595428 41595428 single base substitution G C intron_variant PRAD-CA 12 41600347 41600347 single base substitution T C intron_variant PRAD-CA 12 41610634 41610634 single base substitution T A intron_variant PRAD-CA 12 41612446 41612446 single base substitution G T intron_variant PRAD-CA 12 41640157 41640157 single base substitution T C intron_variant PRAD-CA 12 41653410 41653410 single base substitution C A intron_variant PRAD-CA 12 41660873 41660873 single base substitution C G intron_variant PRAD-CA 12 41664078 41664078 single base substitution C G intron_variant PRAD-CA 12 41679051 41679051 single base substitution A T intron_variant PRAD-CA 12 41694005 41694005 single base substitution T C intron_variant PRAD-CA 12 41696820 41696820 single base substitution G T intron_variant PRAD-CA 12 41698816 41698816 single base substitution G C intron_variant PRAD-CA 12 41700080 41700080 single base substitution A T intron_variant PRAD-CA 12 41725573 41725573 single base substitution G A intron_variant PRAD-CA 12 41728853 41728853 single base substitution G A intron_variant PRAD-CA 12 41739710 41739710 single base substitution C A intron_variant PRAD-CA 12 41743444 41743444 single base substitution C A intron_variant PRAD-CA 12 41745241 41745241 single base substitution T C intron_variant PRAD-CA 12 41748614 41748614 single base substitution C G intron_variant PRAD-CA 12 41750689 41750689 single base substitution A G intron_variant PRAD-CA 12 41753358 41753358 single base substitution C T intron_variant PRAD-CA 12 41754027 41754027 single base substitution A C intron_variant PRAD-CA 12 41759960 41759960 single base substitution C T intron_variant PRAD-CA 12 41761657 41761657 single base substitution C T intron_variant PRAD-CA 12 41768709 41768709 single base substitution T C intron_variant PRAD-CA 12 41770341 41770341 single base substitution A G intron_variant PRAD-CA 12 41777396 41777396 single base substitution T C intron_variant PRAD-CA 12 41778667 41778667 single base substitution T C intron_variant PRAD-CA 12 41793363 41793363 single base substitution C A intron_variant PRAD-CA 12 41796433 41796433 single base substitution T C intron_variant PRAD-CA 12 41812327 41812327 single base substitution T C intron_variant PRAD-CA 12 41823456 41823456 single base substitution C A intron_variant PRAD-CA 12 41835112 41835112 single base substitution A G intron_variant PRAD-CA 12 41843144 41843144 single base substitution C T intron_variant PRAD-CA 12 41877401 41877401 single base substitution C T intron_variant PRAD-CA 12 41891909 41891909 single base substitution A T intron_variant PRAD-CA 12 41929041 41929041 single base substitution G A intron_variant PRAD-CA 12 41929141 41929141 single base substitution T A intron_variant PRAD-CA 12 41931504 41931504 single base substitution C A intron_variant PRAD-CA 12 41937164 41937164 single base substitution G A intron_variant PRAD-CA 12 41942348 41942348 single base substitution C T intron_variant PRAD-CA 12 41943483 41943483 single base substitution G T intron_variant PRAD-CA 12 41955631 41955631 single base substitution C T intron_variant PRAD-CA 12 41956411 41956411 single base substitution A G intron_variant PRAD-CA 12 41960867 41960867 single base substitution C T intron_variant PRAD-CA 12 41962168 41962168 single base substitution G A intron_variant PRAD-CA 12 41962188 41962188 single base substitution T A intron_variant PRAD-CA 12 41965180 41965180 single base substitution A T intron_variant PRAD-CA 12 41970336 41970336 single base substitution C T downstream_gene_variant PRAD-CA 12 41972358 41972358 single base substitution A G downstream_gene_variant PRAD-UK 12 41583900 41583900 single base substitution A G intron_variant PRAD-UK 12 41584159 41584159 single base substitution G C intron_variant PRAD-UK 12 41587249 41587249 single base substitution C G intron_variant PRAD-UK 12 41587264 41587264 single base substitution A G intron_variant PRAD-UK 12 41587924 41587924 single base substitution A C synonymous_variant S259S 777A>C PRAD-UK 12 41591720 41591720 single base substitution G T intron_variant PRAD-UK 12 41594339 41594339 single base substitution C G intron_variant PRAD-UK 12 41600974 41600974 single base substitution C A intron_variant PRAD-UK 12 41602286 41602288 deletion of <=200bp ATT - intron_variant PRAD-UK 12 41603324 41603324 single base substitution A G intron_variant PRAD-UK 12 41609389 41609389 single base substitution A G intron_variant PRAD-UK 12 41612969 41612972 multiple base substitution (>=2bp and <=200bp) TACA TG intron_variant PRAD-UK 12 41612972 41612972 single base substitution A G intron_variant PRAD-UK 12 41614631 41614631 single base substitution A G intron_variant PRAD-UK 12 41614967 41614967 single base substitution G A intron_variant PRAD-UK 12 41616787 41616787 single base substitution A T intron_variant PRAD-UK 12 41622286 41622286 single base substitution A T intron_variant PRAD-UK 12 41625855 41625855 single base substitution A T intron_variant PRAD-UK 12 41627782 41627782 single base substitution G C intron_variant PRAD-UK 12 41635247 41635255 multiple base substitution (>=2bp and <=200bp) AGCGAAAGA AT intron_variant PRAD-UK 12 41640713 41640713 single base substitution C G intron_variant PRAD-UK 12 41644206 41644206 single base substitution C A intron_variant PRAD-UK 12 41650012 41650012 single base substitution T C intron_variant PRAD-UK 12 41650162 41650162 insertion of <=200bp - A intron_variant PRAD-UK 12 41659840 41659840 single base substitution G A intron_variant PRAD-UK 12 41661728 41661728 single base substitution A G intron_variant PRAD-UK 12 41669459 41669459 insertion of <=200bp - T intron_variant PRAD-UK 12 41669722 41669722 single base substitution G T intron_variant PRAD-UK 12 41669723 41669723 single base substitution A G intron_variant PRAD-UK 12 41671769 41671769 deletion of <=200bp G - intron_variant PRAD-UK 12 41671769 41671769 single base substitution G A intron_variant PRAD-UK 12 41674669 41674669 single base substitution C T intron_variant PRAD-UK 12 41683770 41683770 single base substitution A T intron_variant PRAD-UK 12 41684834 41684834 single base substitution A T intron_variant PRAD-UK 12 41688212 41688212 single base substitution A G intron_variant PRAD-UK 12 41689187 41689187 single base substitution T A intron_variant PRAD-UK 12 41694708 41694708 single base substitution T C intron_variant PRAD-UK 12 41699031 41699031 single base substitution T C intron_variant PRAD-UK 12 41699999 41699999 single base substitution C G intron_variant PRAD-UK 12 41702092 41702092 single base substitution C A intron_variant PRAD-UK 12 41703742 41703742 single base substitution A T intron_variant PRAD-UK 12 41703743 41703743 single base substitution T A intron_variant PRAD-UK 12 41709525 41709525 single base substitution T C intron_variant PRAD-UK 12 41722872 41722872 single base substitution C A intron_variant PRAD-UK 12 41723800 41723800 single base substitution T G intron_variant PRAD-UK 12 41727522 41727522 single base substitution C T intron_variant PRAD-UK 12 41728718 41728726 deletion of <=200bp TCTTTCAAC - intron_variant PRAD-UK 12 41730744 41730744 insertion of <=200bp - C intron_variant PRAD-UK 12 41733689 41733689 single base substitution C T intron_variant PRAD-UK 12 41734772 41734772 single base substitution A C intron_variant PRAD-UK 12 41735604 41735604 single base substitution C A intron_variant PRAD-UK 12 41739851 41739851 single base substitution A T intron_variant PRAD-UK 12 41745035 41745035 single base substitution T C intron_variant PRAD-UK 12 41750217 41750217 single base substitution G A intron_variant PRAD-UK 12 41752354 41752354 single base substitution C T intron_variant PRAD-UK 12 41752983 41752983 deletion of <=200bp T - intron_variant PRAD-UK 12 41753359 41753359 deletion of <=200bp G - intron_variant PRAD-UK 12 41759171 41759171 insertion of <=200bp - T intron_variant PRAD-UK 12 41760916 41760916 single base substitution C T intron_variant PRAD-UK 12 41771704 41771704 single base substitution T C intron_variant PRAD-UK 12 41771945 41771945 single base substitution A G intron_variant PRAD-UK 12 41776421 41776421 single base substitution A G intron_variant PRAD-UK 12 41777772 41777806 deletion of <=200bp TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT - intron_variant PRAD-UK 12 41789899 41789899 single base substitution G A intron_variant PRAD-UK 12 41790394 41790394 single base substitution G A intron_variant PRAD-UK 12 41796960 41796960 single base substitution C T intron_variant PRAD-UK 12 41797266 41797266 single base substitution C T intron_variant PRAD-UK 12 41797267 41797267 single base substitution G A intron_variant PRAD-UK 12 41805163 41805163 single base substitution A T intron_variant PRAD-UK 12 41812892 41812892 single base substitution G A intron_variant PRAD-UK 12 41815695 41815695 single base substitution A T intron_variant PRAD-UK 12 41815711 41815711 single base substitution G T intron_variant PRAD-UK 12 41815766 41815766 single base substitution C T intron_variant PRAD-UK 12 41820076 41820076 single base substitution C T intron_variant PRAD-UK 12 41827962 41827962 single base substitution C T intron_variant PRAD-UK 12 41827962 41827962 single base substitution C T upstream_gene_variant PRAD-UK 12 41839073 41839073 single base substitution A G intron_variant PRAD-UK 12 41839074 41839074 single base substitution A T intron_variant PRAD-UK 12 41839077 41839077 single base substitution A T intron_variant PRAD-UK 12 41841810 41841810 single base substitution G A intron_variant PRAD-UK 12 41851963 41851963 single base substitution G T intron_variant PRAD-UK 12 41862836 41862836 deletion of <=200bp A - intron_variant PRAD-UK 12 41865526 41865526 single base substitution T C intron_variant PRAD-UK 12 41870395 41870395 single base substitution A T intron_variant PRAD-UK 12 41870541 41870541 single base substitution C T intron_variant PRAD-UK 12 41871940 41871940 single base substitution C T intron_variant PRAD-UK 12 41876004 41876004 single base substitution C A intron_variant PRAD-UK 12 41882493 41882493 insertion of <=200bp - A intron_variant PRAD-UK 12 41883070 41883070 single base substitution G T intron_variant PRAD-UK 12 41894678 41894678 single base substitution G T intron_variant PRAD-UK 12 41894947 41894947 single base substitution C T intron_variant PRAD-UK 12 41897089 41897089 single base substitution A T intron_variant PRAD-UK 12 41901212 41901212 single base substitution G A intron_variant PRAD-UK 12 41901212 41901212 single base substitution G A upstream_gene_variant PRAD-UK 12 41910530 41910530 single base substitution T C intron_variant PRAD-UK 12 41913746 41913746 single base substitution T A intron_variant PRAD-UK 12 41920835 41920835 single base substitution G A intron_variant PRAD-UK 12 41921427 41921427 single base substitution G A intron_variant PRAD-UK 12 41922719 41922719 insertion of <=200bp - T intron_variant PRAD-UK 12 41925117 41925117 single base substitution C T intron_variant PRAD-UK 12 41926029 41926029 single base substitution C T intron_variant PRAD-UK 12 41955769 41955769 single base substitution A G intron_variant PRAD-UK 12 41966168 41966168 insertion of <=200bp - A frameshift_variant P269P? PRAD-UK 12 41966168 41966168 insertion of <=200bp - A frameshift_variant P271P? PRAD-UK 12 41966168 41966168 insertion of <=200bp - A frameshift_variant P529P? PRAD-UK 12 41966168 41966168 insertion of <=200bp - A splice_region_variant PRAD-UK 12 41968947 41968947 single base substitution G T downstream_gene_variant PRAD-US 12 41966530 41966530 single base substitution G A exon_variant PRAD-US 12 41966530 41966530 single base substitution G A missense_variant S390N 1169G>A PRAD-US 12 41966530 41966530 single base substitution G A missense_variant S392N 1175G>A PRAD-US 12 41966530 41966530 single base substitution G A missense_variant S650N 1949G>A READ-US 12 41900435 41900435 single base substitution G A missense_variant E341K 1021G>A READ-US 12 41900435 41900435 single base substitution G A missense_variant E81K 241G>A READ-US 12 41900435 41900435 single base substitution G A missense_variant E83K 247G>A READ-US 12 41900435 41900435 single base substitution G A upstream_gene_variant READ-US 12 41957421 41957421 single base substitution C T exon_variant READ-US 12 41957421 41957421 single base substitution C T synonymous_variant I219I 657C>T READ-US 12 41957421 41957421 single base substitution C T synonymous_variant I221I 663C>T READ-US 12 41957421 41957421 single base substitution C T synonymous_variant I479I 1437C>T READ-US 12 41966505 41966505 single base substitution G T exon_variant READ-US 12 41966505 41966505 single base substitution G T stop_gained E382* 1144G>T READ-US 12 41966505 41966505 single base substitution G T stop_gained E384* 1150G>T READ-US 12 41966505 41966505 single base substitution G T stop_gained E642* 1924G>T READ-US 12 41966848 41966848 single base substitution C G exon_variant READ-US 12 41966848 41966848 single base substitution C G missense_variant P496R 1487C>G READ-US 12 41966848 41966848 single base substitution C G missense_variant P498R 1493C>G READ-US 12 41966848 41966848 single base substitution C G missense_variant P756R 2267C>G READ-US 12 41967569 41967569 single base substitution G T exon_variant READ-US 12 41967569 41967569 single base substitution G T missense_variant M736I 2208G>T READ-US 12 41967569 41967569 single base substitution G T missense_variant M738I 2214G>T READ-US 12 41967569 41967569 single base substitution G T missense_variant M996I 2988G>T RECA-EU 12 41577479 41577479 single base substitution G T upstream_gene_variant RECA-EU 12 41578305 41578305 single base substitution A T upstream_gene_variant RECA-EU 12 41578434 41578434 single base substitution A T upstream_gene_variant RECA-EU 12 41578458 41578458 single base substitution T C upstream_gene_variant RECA-EU 12 41579673 41579673 single base substitution G C upstream_gene_variant RECA-EU 12 41599918 41599918 single base substitution T A intron_variant RECA-EU 12 41610744 41610744 single base substitution C T intron_variant RECA-EU 12 41625492 41625492 single base substitution T C intron_variant RECA-EU 12 41634353 41634353 single base substitution T A intron_variant RECA-EU 12 41645567 41645567 single base substitution T G intron_variant RECA-EU 12 41645657 41645657 single base substitution C G intron_variant RECA-EU 12 41655225 41655225 single base substitution A G intron_variant RECA-EU 12 41676159 41676159 single base substitution C T intron_variant RECA-EU 12 41686281 41686281 single base substitution A C intron_variant RECA-EU 12 41688598 41688598 single base substitution T A intron_variant RECA-EU 12 41692095 41692095 single base substitution T G intron_variant RECA-EU 12 41695922 41695922 single base substitution A G intron_variant RECA-EU 12 41705219 41705219 single base substitution A T intron_variant RECA-EU 12 41706968 41706968 single base substitution A T intron_variant RECA-EU 12 41708249 41708249 single base substitution C T intron_variant RECA-EU 12 41723550 41723550 single base substitution A G intron_variant RECA-EU 12 41723692 41723692 single base substitution C T intron_variant RECA-EU 12 41738473 41738473 single base substitution G T intron_variant RECA-EU 12 41739004 41739004 single base substitution A C intron_variant RECA-EU 12 41739874 41739874 single base substitution A T intron_variant RECA-EU 12 41743450 41743450 single base substitution C A intron_variant RECA-EU 12 41750760 41750760 single base substitution A G intron_variant RECA-EU 12 41755174 41755174 single base substitution A T intron_variant RECA-EU 12 41758469 41758469 single base substitution G T intron_variant RECA-EU 12 41759977 41759977 single base substitution A T intron_variant RECA-EU 12 41759978 41759978 single base substitution C T intron_variant RECA-EU 12 41780893 41780893 single base substitution A T intron_variant RECA-EU 12 41783145 41783145 single base substitution G T intron_variant RECA-EU 12 41788287 41788287 single base substitution A T intron_variant RECA-EU 12 41794359 41794359 single base substitution G C intron_variant RECA-EU 12 41797053 41797053 single base substitution C T intron_variant RECA-EU 12 41799665 41799665 single base substitution C G intron_variant RECA-EU 12 41808199 41808199 single base substitution A T intron_variant RECA-EU 12 41814993 41814993 single base substitution A T intron_variant RECA-EU 12 41817597 41817597 single base substitution A T intron_variant RECA-EU 12 41818362 41818362 single base substitution T G intron_variant RECA-EU 12 41825213 41825213 single base substitution T G intron_variant RECA-EU 12 41833808 41833808 single base substitution A G intron_variant RECA-EU 12 41845089 41845089 single base substitution T A intron_variant RECA-EU 12 41859632 41859632 single base substitution T A intron_variant RECA-EU 12 41861389 41861389 single base substitution G T intron_variant RECA-EU 12 41864552 41864552 single base substitution C G intron_variant RECA-EU 12 41866841 41866841 single base substitution G T intron_variant RECA-EU 12 41871591 41871591 single base substitution A T intron_variant RECA-EU 12 41872123 41872123 single base substitution G A intron_variant RECA-EU 12 41882044 41882044 single base substitution T C intron_variant RECA-EU 12 41884732 41884732 single base substitution A T intron_variant RECA-EU 12 41885333 41885333 single base substitution C G intron_variant RECA-EU 12 41889001 41889001 single base substitution A T intron_variant RECA-EU 12 41897235 41897235 single base substitution G T intron_variant RECA-EU 12 41899601 41899601 single base substitution C T intron_variant RECA-EU 12 41899601 41899601 single base substitution C T upstream_gene_variant RECA-EU 12 41923800 41923800 single base substitution T A intron_variant RECA-EU 12 41924234 41924234 single base substitution G T intron_variant RECA-EU 12 41933717 41933717 single base substitution C T intron_variant RECA-EU 12 41946497 41946497 single base substitution G A exon_variant RECA-EU 12 41946497 41946497 single base substitution G A missense_variant G155S 463G>A RECA-EU 12 41946497 41946497 single base substitution G A missense_variant G157S 469G>A RECA-EU 12 41946497 41946497 single base substitution G A missense_variant G415S 1243G>A RECA-EU 12 41946687 41946687 single base substitution G A intron_variant RECA-EU 12 41949038 41949038 single base substitution A G intron_variant RECA-EU 12 41954374 41954374 single base substitution T A intron_variant RECA-EU 12 41961110 41961110 single base substitution C A intron_variant RECA-EU 12 41961517 41961517 single base substitution T G intron_variant RECA-EU 12 41971362 41971362 single base substitution G A downstream_gene_variant RECA-EU 12 41971978 41971978 single base substitution G A downstream_gene_variant SKCA-BR 12 41577369 41577369 single base substitution A T upstream_gene_variant SKCA-BR 12 41577850 41577850 single base substitution G A upstream_gene_variant SKCA-BR 12 41579674 41579674 single base substitution G A upstream_gene_variant SKCA-BR 12 41582294 41582294 single base substitution G A missense_variant D13N 37G>A SKCA-BR 12 41585586 41585586 single base substitution A T intron_variant SKCA-BR 12 41585597 41585597 insertion of <=200bp - TTGTT intron_variant SKCA-BR 12 41586322 41586322 single base substitution T A intron_variant SKCA-BR 12 41587003 41587003 single base substitution C T intron_variant SKCA-BR 12 41588186 41588186 single base substitution C T intron_variant SKCA-BR 12 41590731 41590731 single base substitution A C intron_variant SKCA-BR 12 41591687 41591690 deletion of <=200bp TTTC - intron_variant SKCA-BR 12 41591762 41591762 single base substitution G A intron_variant SKCA-BR 12 41594912 41594912 single base substitution G A intron_variant SKCA-BR 12 41596729 41596729 single base substitution G A intron_variant SKCA-BR 12 41598269 41598269 single base substitution G A intron_variant SKCA-BR 12 41600715 41600715 single base substitution T C intron_variant SKCA-BR 12 41601627 41601627 single base substitution T G intron_variant SKCA-BR 12 41601676 41601676 single base substitution G A intron_variant SKCA-BR 12 41602730 41602730 single base substitution C T intron_variant SKCA-BR 12 41603547 41603547 single base substitution G A intron_variant SKCA-BR 12 41603697 41603697 single base substitution T A intron_variant SKCA-BR 12 41603719 41603719 single base substitution A C intron_variant SKCA-BR 12 41609035 41609035 single base substitution G A intron_variant SKCA-BR 12 41611362 41611362 single base substitution G A intron_variant SKCA-BR 12 41611665 41611665 single base substitution C T intron_variant SKCA-BR 12 41613878 41613878 single base substitution A T intron_variant SKCA-BR 12 41613898 41613898 single base substitution T C intron_variant SKCA-BR 12 41615216 41615216 single base substitution C T intron_variant SKCA-BR 12 41617159 41617159 single base substitution C T intron_variant SKCA-BR 12 41617713 41617713 single base substitution G A intron_variant SKCA-BR 12 41623502 41623502 single base substitution C G intron_variant SKCA-BR 12 41624876 41624876 single base substitution T C intron_variant SKCA-BR 12 41626020 41626020 single base substitution G C intron_variant SKCA-BR 12 41627202 41627202 single base substitution A G intron_variant SKCA-BR 12 41629462 41629462 single base substitution C A intron_variant SKCA-BR 12 41630264 41630264 single base substitution T G intron_variant SKCA-BR 12 41630923 41630923 single base substitution G A intron_variant SKCA-BR 12 41632176 41632176 single base substitution G A intron_variant SKCA-BR 12 41633526 41633526 single base substitution C T intron_variant SKCA-BR 12 41633701 41633701 single base substitution C T intron_variant SKCA-BR 12 41634885 41634885 single base substitution C T intron_variant SKCA-BR 12 41635312 41635312 single base substitution G A intron_variant SKCA-BR 12 41636430 41636430 insertion of <=200bp - GAC intron_variant SKCA-BR 12 41638246 41638246 single base substitution T C intron_variant SKCA-BR 12 41638482 41638492 deletion of <=200bp TTTTTTTTTTC - intron_variant SKCA-BR 12 41639997 41639997 single base substitution C T intron_variant SKCA-BR 12 41640222 41640222 single base substitution A G intron_variant SKCA-BR 12 41645364 41645364 single base substitution A G intron_variant SKCA-BR 12 41645933 41645933 single base substitution T A intron_variant SKCA-BR 12 41646008 41646008 single base substitution G A intron_variant SKCA-BR 12 41648821 41648821 single base substitution G A intron_variant SKCA-BR 12 41650509 41650509 single base substitution C T intron_variant SKCA-BR 12 41650635 41650635 single base substitution C T intron_variant SKCA-BR 12 41651192 41651192 single base substitution C T intron_variant SKCA-BR 12 41652334 41652334 single base substitution A G intron_variant SKCA-BR 12 41652637 41652637 single base substitution G A intron_variant SKCA-BR 12 41653406 41653406 single base substitution A C intron_variant SKCA-BR 12 41654785 41654785 single base substitution C A intron_variant SKCA-BR 12 41656066 41656066 single base substitution C T intron_variant SKCA-BR 12 41658402 41658402 single base substitution T A intron_variant SKCA-BR 12 41661476 41661477 deletion of <=200bp CA - intron_variant SKCA-BR 12 41662363 41662363 single base substitution C T intron_variant SKCA-BR 12 41664088 41664088 insertion of <=200bp - GGT intron_variant SKCA-BR 12 41664128 41664128 single base substitution C G intron_variant SKCA-BR 12 41664502 41664502 single base substitution T G intron_variant SKCA-BR 12 41665221 41665221 single base substitution C T intron_variant SKCA-BR 12 41669939 41669939 single base substitution C A intron_variant SKCA-BR 12 41671009 41671009 single base substitution C T intron_variant SKCA-BR 12 41671648 41671648 single base substitution G A intron_variant SKCA-BR 12 41673553 41673553 single base substitution G A intron_variant SKCA-BR 12 41675059 41675059 single base substitution G A intron_variant SKCA-BR 12 41675972 41675972 single base substitution G A intron_variant SKCA-BR 12 41679298 41679298 single base substitution C T intron_variant SKCA-BR 12 41680613 41680613 single base substitution G A intron_variant SKCA-BR 12 41681266 41681266 single base substitution G C intron_variant SKCA-BR 12 41686165 41686165 single base substitution C G intron_variant SKCA-BR 12 41686708 41686708 single base substitution C T intron_variant SKCA-BR 12 41686812 41686812 single base substitution G A intron_variant SKCA-BR 12 41700323 41700323 single base substitution G A intron_variant SKCA-BR 12 41702772 41702772 single base substitution G A intron_variant SKCA-BR 12 41704515 41704515 single base substitution C T intron_variant SKCA-BR 12 41708862 41708862 single base substitution T A intron_variant SKCA-BR 12 41710258 41710260 deletion of <=200bp ATG - intron_variant SKCA-BR 12 41710850 41710850 insertion of <=200bp - GTATACATACATATATATATATA intron_variant SKCA-BR 12 41710850 41710850 insertion of <=200bp - GTATACATACATATATATATATATATA intron_variant SKCA-BR 12 41710855 41710855 single base substitution T C intron_variant SKCA-BR 12 41710859 41710859 single base substitution T C intron_variant SKCA-BR 12 41711938 41711938 single base substitution G A intron_variant SKCA-BR 12 41714886 41714886 single base substitution C T intron_variant SKCA-BR 12 41716556 41716556 single base substitution C T intron_variant SKCA-BR 12 41724549 41724549 single base substitution A G intron_variant SKCA-BR 12 41724550 41724550 single base substitution A G intron_variant SKCA-BR 12 41725783 41725783 single base substitution A G intron_variant SKCA-BR 12 41726028 41726028 single base substitution T A intron_variant SKCA-BR 12 41726626 41726626 single base substitution C T intron_variant SKCA-BR 12 41726782 41726782 single base substitution C T intron_variant SKCA-BR 12 41729350 41729350 single base substitution G A intron_variant SKCA-BR 12 41730252 41730252 single base substitution G T intron_variant SKCA-BR 12 41731324 41731324 single base substitution G A intron_variant SKCA-BR 12 41732640 41732640 single base substitution A G intron_variant SKCA-BR 12 41732643 41732643 single base substitution C T intron_variant SKCA-BR 12 41732863 41732863 single base substitution G A intron_variant SKCA-BR 12 41733895 41733895 single base substitution G A intron_variant SKCA-BR 12 41734771 41734771 single base substitution G A intron_variant SKCA-BR 12 41737532 41737533 deletion of <=200bp GC - intron_variant SKCA-BR 12 41738503 41738503 single base substitution C T intron_variant SKCA-BR 12 41745782 41745782 insertion of <=200bp - AAAATAAATAAATAAAT intron_variant SKCA-BR 12 41746879 41746879 single base substitution G A intron_variant SKCA-BR 12 41747260 41747260 single base substitution G A intron_variant SKCA-BR 12 41748641 41748641 single base substitution C T intron_variant SKCA-BR 12 41751754 41751754 single base substitution C T intron_variant SKCA-BR 12 41753709 41753709 single base substitution C T intron_variant SKCA-BR 12 41754372 41754372 single base substitution C T intron_variant SKCA-BR 12 41755636 41755636 single base substitution G A intron_variant SKCA-BR 12 41756281 41756281 single base substitution C T intron_variant SKCA-BR 12 41758460 41758460 single base substitution C T intron_variant SKCA-BR 12 41760832 41760832 single base substitution C T intron_variant SKCA-BR 12 41761091 41761091 single base substitution C T intron_variant SKCA-BR 12 41761652 41761652 single base substitution C T intron_variant SKCA-BR 12 41762284 41762284 single base substitution T C intron_variant SKCA-BR 12 41762616 41762616 single base substitution C T intron_variant SKCA-BR 12 41763828 41763828 single base substitution G A intron_variant SKCA-BR 12 41763885 41763885 single base substitution C T intron_variant SKCA-BR 12 41763952 41763952 single base substitution C T intron_variant SKCA-BR 12 41765223 41765223 single base substitution G A intron_variant SKCA-BR 12 41765668 41765668 single base substitution C T intron_variant SKCA-BR 12 41766291 41766291 single base substitution G A intron_variant SKCA-BR 12 41767965 41767965 single base substitution G T intron_variant SKCA-BR 12 41768320 41768320 single base substitution C T intron_variant SKCA-BR 12 41768497 41768497 single base substitution G A intron_variant SKCA-BR 12 41769185 41769185 single base substitution G A intron_variant SKCA-BR 12 41770028 41770028 single base substitution C T intron_variant SKCA-BR 12 41770697 41770697 single base substitution A G intron_variant SKCA-BR 12 41771145 41771145 single base substitution C T intron_variant SKCA-BR 12 41771189 41771189 single base substitution G A intron_variant SKCA-BR 12 41771735 41771735 single base substitution G A intron_variant SKCA-BR 12 41772121 41772121 single base substitution G A intron_variant SKCA-BR 12 41772322 41772322 insertion of <=200bp - AT intron_variant SKCA-BR 12 41773484 41773484 single base substitution C T intron_variant SKCA-BR 12 41777258 41777258 single base substitution T A intron_variant SKCA-BR 12 41778554 41778554 single base substitution C T intron_variant SKCA-BR 12 41779019 41779019 single base substitution G A intron_variant SKCA-BR 12 41779645 41779645 single base substitution C G intron_variant SKCA-BR 12 41780748 41780748 single base substitution C T intron_variant SKCA-BR 12 41781238 41781238 single base substitution T A intron_variant SKCA-BR 12 41781247 41781247 single base substitution G C intron_variant SKCA-BR 12 41782204 41782204 single base substitution G A intron_variant SKCA-BR 12 41783551 41783551 single base substitution C T intron_variant SKCA-BR 12 41784439 41784439 single base substitution C A intron_variant SKCA-BR 12 41784776 41784776 single base substitution G A intron_variant SKCA-BR 12 41785451 41785460 deletion of <=200bp TAATATGAGG - intron_variant SKCA-BR 12 41789590 41789590 single base substitution G A intron_variant SKCA-BR 12 41791857 41791857 single base substitution T C intron_variant SKCA-BR 12 41791909 41791909 single base substitution G A intron_variant SKCA-BR 12 41793091 41793091 single base substitution G A intron_variant SKCA-BR 12 41794770 41794770 single base substitution G A intron_variant SKCA-BR 12 41794795 41794795 single base substitution C T intron_variant SKCA-BR 12 41795085 41795085 single base substitution G A intron_variant SKCA-BR 12 41795379 41795379 single base substitution C T intron_variant SKCA-BR 12 41795615 41795615 single base substitution C T intron_variant SKCA-BR 12 41795872 41795872 single base substitution G A intron_variant SKCA-BR 12 41796067 41796067 single base substitution T C intron_variant SKCA-BR 12 41796080 41796080 single base substitution A G intron_variant SKCA-BR 12 41796092 41796092 single base substitution T C intron_variant SKCA-BR 12 41796108 41796108 single base substitution G C intron_variant SKCA-BR 12 41796410 41796410 single base substitution T C intron_variant SKCA-BR 12 41796426 41796430 deletion of <=200bp GTATA - intron_variant SKCA-BR 12 41796739 41796739 single base substitution T G intron_variant SKCA-BR 12 41797012 41797012 single base substitution G A intron_variant SKCA-BR 12 41797013 41797013 single base substitution G A intron_variant SKCA-BR 12 41798221 41798221 single base substitution G A intron_variant SKCA-BR 12 41800713 41800713 single base substitution A T intron_variant SKCA-BR 12 41801526 41801527 deletion of <=200bp AC - intron_variant SKCA-BR 12 41801527 41801527 single base substitution C A intron_variant SKCA-BR 12 41802972 41802972 single base substitution G A intron_variant SKCA-BR 12 41803849 41803849 single base substitution G A intron_variant SKCA-BR 12 41804092 41804092 single base substitution C T intron_variant SKCA-BR 12 41805087 41805087 single base substitution T C intron_variant SKCA-BR 12 41805466 41805466 single base substitution G T intron_variant SKCA-BR 12 41805931 41805931 single base substitution C T intron_variant SKCA-BR 12 41808026 41808026 single base substitution C T intron_variant SKCA-BR 12 41808613 41808613 single base substitution G A intron_variant SKCA-BR 12 41809096 41809096 single base substitution A T intron_variant SKCA-BR 12 41810139 41810139 single base substitution C T intron_variant SKCA-BR 12 41810571 41810571 single base substitution C T intron_variant SKCA-BR 12 41810581 41810581 single base substitution T G intron_variant SKCA-BR 12 41811225 41811225 insertion of <=200bp - TTA intron_variant SKCA-BR 12 41813263 41813263 single base substitution C T intron_variant SKCA-BR 12 41814141 41814141 single base substitution G A intron_variant SKCA-BR 12 41815134 41815134 single base substitution G A intron_variant SKCA-BR 12 41815483 41815483 single base substitution A G intron_variant SKCA-BR 12 41819224 41819224 single base substitution G A intron_variant SKCA-BR 12 41819748 41819748 single base substitution T C intron_variant SKCA-BR 12 41819749 41819749 single base substitution G C intron_variant SKCA-BR 12 41820609 41820609 single base substitution C T intron_variant SKCA-BR 12 41820826 41820826 single base substitution G A intron_variant SKCA-BR 12 41821716 41821716 single base substitution C T intron_variant SKCA-BR 12 41823037 41823037 single base substitution C T intron_variant SKCA-BR 12 41823110 41823110 single base substitution G A intron_variant SKCA-BR 12 41824358 41824358 single base substitution T G intron_variant SKCA-BR 12 41825301 41825301 single base substitution C T intron_variant SKCA-BR 12 41829403 41829403 single base substitution A G intron_variant SKCA-BR 12 41829403 41829403 single base substitution A G upstream_gene_variant SKCA-BR 12 41829819 41829819 single base substitution G A intron_variant SKCA-BR 12 41829819 41829819 single base substitution G A upstream_gene_variant SKCA-BR 12 41831559 41831559 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 41831559 41831559 single base substitution G A intron_variant SKCA-BR 12 41834539 41834539 single base substitution C T intron_variant SKCA-BR 12 41836317 41836317 single base substitution C T intron_variant SKCA-BR 12 41836781 41836781 single base substitution C T intron_variant SKCA-BR 12 41838242 41838242 single base substitution C T intron_variant SKCA-BR 12 41839141 41839141 single base substitution A C intron_variant SKCA-BR 12 41840176 41840176 single base substitution G A intron_variant SKCA-BR 12 41840601 41840612 deletion of <=200bp AGCCAGACAGTG - intron_variant SKCA-BR 12 41840707 41840707 single base substitution G A intron_variant SKCA-BR 12 41842803 41842803 single base substitution C T intron_variant SKCA-BR 12 41843258 41843258 single base substitution C T intron_variant SKCA-BR 12 41843306 41843306 single base substitution G A intron_variant SKCA-BR 12 41844385 41844385 single base substitution G A intron_variant SKCA-BR 12 41844501 41844501 single base substitution A G intron_variant SKCA-BR 12 41844532 41844532 single base substitution T C intron_variant SKCA-BR 12 41844838 41844838 single base substitution G A intron_variant SKCA-BR 12 41844901 41844901 single base substitution G A intron_variant SKCA-BR 12 41845952 41845952 single base substitution G A intron_variant SKCA-BR 12 41846889 41846889 single base substitution A G intron_variant SKCA-BR 12 41848195 41848195 single base substitution G A intron_variant SKCA-BR 12 41848749 41848749 single base substitution T G intron_variant SKCA-BR 12 41849643 41849643 single base substitution C T intron_variant SKCA-BR 12 41850147 41850147 insertion of <=200bp - GTT intron_variant SKCA-BR 12 41850851 41850851 single base substitution C T intron_variant SKCA-BR 12 41851793 41851793 single base substitution G A intron_variant SKCA-BR 12 41852807 41852807 single base substitution G T intron_variant SKCA-BR 12 41853112 41853112 single base substitution G A intron_variant SKCA-BR 12 41855761 41855761 single base substitution G A intron_variant SKCA-BR 12 41857948 41857948 single base substitution G A intron_variant SKCA-BR 12 41860087 41860087 single base substitution C T intron_variant SKCA-BR 12 41860266 41860266 single base substitution A T intron_variant SKCA-BR 12 41860553 41860553 insertion of <=200bp - GTT intron_variant SKCA-BR 12 41860824 41860824 single base substitution T G intron_variant SKCA-BR 12 41861173 41861173 single base substitution T C intron_variant SKCA-BR 12 41861581 41861581 single base substitution G A intron_variant SKCA-BR 12 41862092 41862092 single base substitution T C intron_variant SKCA-BR 12 41863683 41863683 single base substitution G A intron_variant SKCA-BR 12 41864560 41864560 single base substitution G A intron_variant SKCA-BR 12 41864662 41864662 single base substitution A C intron_variant SKCA-BR 12 41865797 41865797 single base substitution C T intron_variant SKCA-BR 12 41865805 41865805 insertion of <=200bp - CT intron_variant SKCA-BR 12 41866074 41866074 single base substitution G A intron_variant SKCA-BR 12 41867840 41867840 single base substitution A G intron_variant SKCA-BR 12 41868552 41868552 single base substitution G A intron_variant SKCA-BR 12 41868736 41868736 single base substitution G A intron_variant SKCA-BR 12 41870094 41870094 single base substitution C T intron_variant SKCA-BR 12 41875691 41875691 single base substitution T G intron_variant SKCA-BR 12 41876199 41876199 single base substitution G A intron_variant SKCA-BR 12 41876213 41876213 single base substitution G A intron_variant SKCA-BR 12 41876270 41876270 single base substitution G A intron_variant SKCA-BR 12 41877982 41877982 single base substitution C T intron_variant SKCA-BR 12 41880598 41880598 single base substitution G A intron_variant SKCA-BR 12 41881141 41881141 single base substitution T A intron_variant SKCA-BR 12 41881143 41881143 single base substitution C T intron_variant SKCA-BR 12 41884738 41884738 single base substitution C T intron_variant SKCA-BR 12 41885143 41885143 single base substitution T A intron_variant SKCA-BR 12 41885517 41885517 single base substitution C G intron_variant SKCA-BR 12 41886205 41886205 single base substitution T C intron_variant SKCA-BR 12 41886511 41886511 single base substitution C T intron_variant SKCA-BR 12 41888916 41888916 single base substitution T C intron_variant SKCA-BR 12 41889035 41889035 single base substitution G A intron_variant SKCA-BR 12 41890350 41890350 single base substitution A C intron_variant SKCA-BR 12 41890611 41890611 single base substitution C T intron_variant SKCA-BR 12 41893111 41893111 single base substitution C T intron_variant SKCA-BR 12 41893601 41893601 single base substitution G A intron_variant SKCA-BR 12 41895814 41895814 single base substitution G A intron_variant SKCA-BR 12 41899119 41899119 single base substitution C T intron_variant SKCA-BR 12 41899119 41899119 single base substitution C T upstream_gene_variant SKCA-BR 12 41900626 41900626 single base substitution C T intron_variant SKCA-BR 12 41900626 41900626 single base substitution C T upstream_gene_variant SKCA-BR 12 41901588 41901588 single base substitution G A intron_variant SKCA-BR 12 41901588 41901588 single base substitution G A upstream_gene_variant SKCA-BR 12 41903729 41903729 single base substitution C T intron_variant SKCA-BR 12 41909587 41909587 single base substitution C T intron_variant SKCA-BR 12 41911105 41911105 single base substitution T A intron_variant SKCA-BR 12 41911850 41911850 single base substitution A G intron_variant SKCA-BR 12 41912260 41912260 single base substitution G A intron_variant SKCA-BR 12 41912614 41912614 single base substitution G A intron_variant SKCA-BR 12 41914977 41914977 single base substitution T A intron_variant SKCA-BR 12 41917936 41917936 single base substitution G T intron_variant SKCA-BR 12 41918902 41918902 single base substitution G T intron_variant SKCA-BR 12 41918917 41918917 single base substitution C T intron_variant SKCA-BR 12 41922059 41922059 single base substitution T G intron_variant SKCA-BR 12 41922886 41922886 single base substitution C T intron_variant SKCA-BR 12 41923613 41923613 single base substitution C T intron_variant SKCA-BR 12 41923929 41923929 single base substitution A C intron_variant SKCA-BR 12 41924668 41924668 single base substitution C T intron_variant SKCA-BR 12 41925050 41925050 single base substitution G A intron_variant SKCA-BR 12 41926555 41926555 single base substitution C T intron_variant SKCA-BR 12 41929168 41929168 single base substitution C T intron_variant SKCA-BR 12 41931239 41931239 single base substitution G A intron_variant SKCA-BR 12 41931936 41931936 single base substitution T C intron_variant SKCA-BR 12 41931948 41931948 single base substitution T A intron_variant SKCA-BR 12 41932022 41932022 single base substitution G A intron_variant SKCA-BR 12 41933077 41933077 single base substitution G A intron_variant SKCA-BR 12 41935251 41935254 deletion of <=200bp CTTT - intron_variant SKCA-BR 12 41937471 41937471 single base substitution C T intron_variant SKCA-BR 12 41938347 41938347 single base substitution C T intron_variant SKCA-BR 12 41941831 41941831 single base substitution T G intron_variant SKCA-BR 12 41944005 41944005 single base substitution C T intron_variant SKCA-BR 12 41944383 41944383 single base substitution C G intron_variant SKCA-BR 12 41948418 41948418 single base substitution C T intron_variant SKCA-BR 12 41949032 41949036 deletion of <=200bp CAAAA - intron_variant SKCA-BR 12 41949051 41949051 single base substitution A C intron_variant SKCA-BR 12 41949454 41949454 single base substitution G A intron_variant SKCA-BR 12 41950352 41950352 single base substitution C T intron_variant SKCA-BR 12 41950614 41950614 single base substitution C T intron_variant SKCA-BR 12 41952575 41952575 single base substitution A G intron_variant SKCA-BR 12 41953427 41953427 single base substitution G A intron_variant SKCA-BR 12 41954038 41954038 single base substitution G A intron_variant SKCA-BR 12 41956625 41956625 single base substitution A C intron_variant SKCA-BR 12 41957112 41957112 single base substitution T C intron_variant SKCA-BR 12 41957711 41957711 single base substitution C T intron_variant SKCA-BR 12 41958294 41958294 single base substitution C G intron_variant SKCA-BR 12 41958882 41958882 single base substitution C T intron_variant SKCA-BR 12 41959250 41959250 insertion of <=200bp - TA intron_variant SKCA-BR 12 41960787 41960787 single base substitution C T intron_variant SKCA-BR 12 41961020 41961020 single base substitution A C intron_variant SKCA-BR 12 41961546 41961546 single base substitution C T intron_variant SKCA-BR 12 41964476 41964476 single base substitution C T intron_variant SKCA-BR 12 41965861 41965861 single base substitution A C intron_variant SKCA-BR 12 41967335 41967335 single base substitution C T exon_variant SKCA-BR 12 41967335 41967335 single base substitution C T synonymous_variant I658I 1974C>T SKCA-BR 12 41967335 41967335 single base substitution C T synonymous_variant I660I 1980C>T SKCA-BR 12 41967335 41967335 single base substitution C T synonymous_variant I918I 2754C>T SKCA-BR 12 41967635 41967635 single base substitution C T exon_variant SKCA-BR 12 41967635 41967635 single base substitution C T synonymous_variant A1018A 3054C>T SKCA-BR 12 41967635 41967635 single base substitution C T synonymous_variant A758A 2274C>T SKCA-BR 12 41967635 41967635 single base substitution C T synonymous_variant A760A 2280C>T SKCA-BR 12 41967975 41967975 single base substitution T A 3_prime_UTR_variant SKCA-BR 12 41967975 41967975 single base substitution T A downstream_gene_variant SKCA-BR 12 41967975 41967975 single base substitution T A exon_variant SKCA-BR 12 41969048 41969048 single base substitution C T downstream_gene_variant SKCA-BR 12 41971460 41971460 single base substitution T A downstream_gene_variant SKCA-BR 12 41971753 41971753 single base substitution C T downstream_gene_variant SKCM-US 12 41585335 41585335 single base substitution C T stop_gained R242* 724C>T SKCM-US 12 41587911 41587911 single base substitution G A missense_variant G255E 764G>A SKCM-US 12 41900269 41900269 single base substitution G A synonymous_variant K25K 75G>A SKCM-US 12 41900269 41900269 single base substitution G A synonymous_variant K27K 81G>A SKCM-US 12 41900269 41900269 single base substitution G A synonymous_variant K285K 855G>A SKCM-US 12 41900269 41900269 single base substitution G A upstream_gene_variant SKCM-US 12 41900423 41900423 single base substitution G A missense_variant D337N 1009G>A SKCM-US 12 41900423 41900423 single base substitution G A missense_variant D77N 229G>A SKCM-US 12 41900423 41900423 single base substitution G A missense_variant D79N 235G>A SKCM-US 12 41900423 41900423 single base substitution G A upstream_gene_variant SKCM-US 12 41900474 41900474 single base substitution C T missense_variant P354S 1060C>T SKCM-US 12 41900474 41900474 single base substitution C T missense_variant P94S 280C>T SKCM-US 12 41900474 41900474 single base substitution C T missense_variant P96S 286C>T SKCM-US 12 41900474 41900474 single base substitution C T upstream_gene_variant SKCM-US 12 41949535 41949535 single base substitution G A exon_variant SKCM-US 12 41949535 41949535 single base substitution G A synonymous_variant R186R 558G>A SKCM-US 12 41949535 41949535 single base substitution G A synonymous_variant R188R 564G>A SKCM-US 12 41949535 41949535 single base substitution G A synonymous_variant R446R 1338G>A SKCM-US 12 41949548 41949548 single base substitution G A exon_variant SKCM-US 12 41949548 41949548 single base substitution G A missense_variant D191N 571G>A SKCM-US 12 41949548 41949548 single base substitution G A missense_variant D193N 577G>A SKCM-US 12 41949548 41949548 single base substitution G A missense_variant D451N 1351G>A SKCM-US 12 41949551 41949551 single base substitution C T exon_variant SKCM-US 12 41949551 41949551 single base substitution C T missense_variant R192W 574C>T SKCM-US 12 41949551 41949551 single base substitution C T missense_variant R194W 580C>T SKCM-US 12 41949551 41949551 single base substitution C T missense_variant R452W 1354C>T SKCM-US 12 41957359 41957359 single base substitution G A exon_variant SKCM-US 12 41957359 41957359 single base substitution G A missense_variant E199K 595G>A SKCM-US 12 41957359 41957359 single base substitution G A missense_variant E201K 601G>A SKCM-US 12 41957359 41957359 single base substitution G A missense_variant E459K 1375G>A SKCM-US 12 41957445 41957445 single base substitution G A exon_variant SKCM-US 12 41957445 41957445 single base substitution G A synonymous_variant E227E 681G>A SKCM-US 12 41957445 41957445 single base substitution G A synonymous_variant E229E 687G>A SKCM-US 12 41957445 41957445 single base substitution G A synonymous_variant E487E 1461G>A SKCM-US 12 41961618 41961618 single base substitution G T exon_variant SKCM-US 12 41961618 41961618 single base substitution G T stop_gained E241* 721G>T SKCM-US 12 41961618 41961618 single base substitution G T stop_gained E243* 727G>T SKCM-US 12 41961618 41961618 single base substitution G T stop_gained E501* 1501G>T SKCM-US 12 41961632 41961632 single base substitution G A exon_variant SKCM-US 12 41961632 41961632 single base substitution G A synonymous_variant E245E 735G>A SKCM-US 12 41961632 41961632 single base substitution G A synonymous_variant E247E 741G>A SKCM-US 12 41961632 41961632 single base substitution G A synonymous_variant E505E 1515G>A SKCM-US 12 41966225 41966225 single base substitution C T exon_variant SKCM-US 12 41966225 41966225 single base substitution C T synonymous_variant N288N 864C>T SKCM-US 12 41966225 41966225 single base substitution C T synonymous_variant N290N 870C>T SKCM-US 12 41966225 41966225 single base substitution C T synonymous_variant N548N 1644C>T SKCM-US 12 41966269 41966269 single base substitution G A exon_variant SKCM-US 12 41966269 41966269 single base substitution G A missense_variant R303Q 908G>A SKCM-US 12 41966269 41966269 single base substitution G A missense_variant R305Q 914G>A SKCM-US 12 41966269 41966269 single base substitution G A missense_variant R563Q 1688G>A SKCM-US 12 41966312 41966312 single base substitution C T exon_variant SKCM-US 12 41966312 41966312 single base substitution C T synonymous_variant P317P 951C>T SKCM-US 12 41966312 41966312 single base substitution C T synonymous_variant P319P 957C>T SKCM-US 12 41966312 41966312 single base substitution C T synonymous_variant P577P 1731C>T SKCM-US 12 41966347 41966347 single base substitution G A exon_variant SKCM-US 12 41966347 41966347 single base substitution G A missense_variant G329E 986G>A SKCM-US 12 41966347 41966347 single base substitution G A missense_variant G331E 992G>A SKCM-US 12 41966347 41966347 single base substitution G A missense_variant G589E 1766G>A SKCM-US 12 41966551 41966551 single base substitution G A exon_variant SKCM-US 12 41966551 41966551 single base substitution G A missense_variant G397E 1190G>A SKCM-US 12 41966551 41966551 single base substitution G A missense_variant G399E 1196G>A SKCM-US 12 41966551 41966551 single base substitution G A missense_variant G657E 1970G>A SKCM-US 12 41966563 41966563 single base substitution G A exon_variant SKCM-US 12 41966563 41966563 single base substitution G A missense_variant G401E 1202G>A SKCM-US 12 41966563 41966563 single base substitution G A missense_variant G403E 1208G>A SKCM-US 12 41966563 41966563 single base substitution G A missense_variant G661E 1982G>A SKCM-US 12 41966780 41966780 single base substitution G A exon_variant SKCM-US 12 41966780 41966780 single base substitution G A synonymous_variant K473K 1419G>A SKCM-US 12 41966780 41966780 single base substitution G A synonymous_variant K475K 1425G>A SKCM-US 12 41966780 41966780 single base substitution G A synonymous_variant K733K 2199G>A SKCM-US 12 41966907 41966907 single base substitution A T exon_variant SKCM-US 12 41966907 41966907 single base substitution A T missense_variant M516L 1546A>T SKCM-US 12 41966907 41966907 single base substitution A T missense_variant M518L 1552A>T SKCM-US 12 41966907 41966907 single base substitution A T missense_variant M776L 2326A>T SKCM-US 12 41966991 41966991 single base substitution G A exon_variant SKCM-US 12 41966991 41966991 single base substitution G A missense_variant A544T 1630G>A SKCM-US 12 41966991 41966991 single base substitution G A missense_variant A546T 1636G>A SKCM-US 12 41966991 41966991 single base substitution G A missense_variant A804T 2410G>A SKCM-US 12 41967003 41967003 single base substitution G A exon_variant SKCM-US 12 41967003 41967003 single base substitution G A missense_variant E548K 1642G>A SKCM-US 12 41967003 41967003 single base substitution G A missense_variant E550K 1648G>A SKCM-US 12 41967003 41967003 single base substitution G A missense_variant E808K 2422G>A SKCM-US 12 41967191 41967191 single base substitution C T exon_variant SKCM-US 12 41967191 41967191 single base substitution C T synonymous_variant L610L 1830C>T SKCM-US 12 41967191 41967191 single base substitution C T synonymous_variant L612L 1836C>T SKCM-US 12 41967191 41967191 single base substitution C T synonymous_variant L870L 2610C>T SKCM-US 12 41967242 41967242 single base substitution G A exon_variant SKCM-US 12 41967242 41967242 single base substitution G A missense_variant M627I 1881G>A SKCM-US 12 41967242 41967242 single base substitution G A missense_variant M629I 1887G>A SKCM-US 12 41967242 41967242 single base substitution G A missense_variant M887I 2661G>A SKCM-US 12 41967243 41967243 single base substitution G A exon_variant SKCM-US 12 41967243 41967243 single base substitution G A missense_variant E628K 1882G>A SKCM-US 12 41967243 41967243 single base substitution G A missense_variant E630K 1888G>A SKCM-US 12 41967243 41967243 single base substitution G A missense_variant E888K 2662G>A SKCM-US 12 41967284 41967284 single base substitution C T exon_variant SKCM-US 12 41967284 41967284 single base substitution C T synonymous_variant I641I 1923C>T SKCM-US 12 41967284 41967284 single base substitution C T synonymous_variant I643I 1929C>T SKCM-US 12 41967284 41967284 single base substitution C T synonymous_variant I901I 2703C>T SKCM-US 12 41967301 41967301 single base substitution G A exon_variant SKCM-US 12 41967301 41967301 single base substitution G A missense_variant R647Q 1940G>A SKCM-US 12 41967301 41967301 single base substitution G A missense_variant R649Q 1946G>A SKCM-US 12 41967301 41967301 single base substitution G A missense_variant R907Q 2720G>A SKCM-US 12 41967311 41967311 single base substitution C G exon_variant SKCM-US 12 41967311 41967311 single base substitution C G missense_variant I650M 1950C>G SKCM-US 12 41967311 41967311 single base substitution C G missense_variant I652M 1956C>G SKCM-US 12 41967311 41967311 single base substitution C G missense_variant I910M 2730C>G SKCM-US 12 41967335 41967335 single base substitution C T exon_variant SKCM-US 12 41967335 41967335 single base substitution C T synonymous_variant I658I 1974C>T SKCM-US 12 41967335 41967335 single base substitution C T synonymous_variant I660I 1980C>T SKCM-US 12 41967335 41967335 single base substitution C T synonymous_variant I918I 2754C>T SKCM-US 12 41967339 41967339 single base substitution G A exon_variant SKCM-US 12 41967339 41967339 single base substitution G A missense_variant E660K 1978G>A SKCM-US 12 41967339 41967339 single base substitution G A missense_variant E662K 1984G>A SKCM-US 12 41967339 41967339 single base substitution G A missense_variant E920K 2758G>A SKCM-US 12 41967386 41967386 single base substitution G A exon_variant SKCM-US 12 41967386 41967386 single base substitution G A missense_variant M675I 2025G>A SKCM-US 12 41967386 41967386 single base substitution G A missense_variant M677I 2031G>A SKCM-US 12 41967386 41967386 single base substitution G A missense_variant M935I 2805G>A SKCM-US 12 41967416 41967416 single base substitution G A exon_variant SKCM-US 12 41967416 41967416 single base substitution G A synonymous_variant E685E 2055G>A SKCM-US 12 41967416 41967416 single base substitution G A synonymous_variant E687E 2061G>A SKCM-US 12 41967416 41967416 single base substitution G A synonymous_variant E945E 2835G>A SKCM-US 12 41967546 41967546 single base substitution G A exon_variant SKCM-US 12 41967546 41967546 single base substitution G A missense_variant E729K 2185G>A SKCM-US 12 41967546 41967546 single base substitution G A missense_variant E731K 2191G>A SKCM-US 12 41967546 41967546 single base substitution G A missense_variant E989K 2965G>A SKCM-US 12 41967584 41967584 single base substitution G A exon_variant SKCM-US 12 41967584 41967584 single base substitution G A synonymous_variant K1001K 3003G>A SKCM-US 12 41967584 41967584 single base substitution G A synonymous_variant K741K 2223G>A SKCM-US 12 41967584 41967584 single base substitution G A synonymous_variant K743K 2229G>A SKCM-US 12 41967587 41967587 single base substitution A T exon_variant SKCM-US 12 41967587 41967587 single base substitution A T missense_variant K1002N 3006A>T SKCM-US 12 41967587 41967587 single base substitution A T missense_variant K742N 2226A>T SKCM-US 12 41967587 41967587 single base substitution A T missense_variant K744N 2232A>T SKCM-US 12 41967660 41967660 single base substitution C T exon_variant SKCM-US 12 41967660 41967660 single base substitution C T missense_variant H1027Y 3079C>T SKCM-US 12 41967660 41967660 single base substitution C T missense_variant H767Y 2299C>T SKCM-US 12 41967660 41967660 single base substitution C T missense_variant H769Y 2305C>T STAD-US 12 41900359 41900359 single base substitution T A synonymous_variant P315P 945T>A STAD-US 12 41900359 41900359 single base substitution T A synonymous_variant P55P 165T>A STAD-US 12 41900359 41900359 single base substitution T A synonymous_variant P57P 171T>A STAD-US 12 41900359 41900359 single base substitution T A upstream_gene_variant STAD-US 12 41900462 41900462 single base substitution C T missense_variant R350C 1048C>T STAD-US 12 41900462 41900462 single base substitution C T missense_variant R90C 268C>T STAD-US 12 41900462 41900462 single base substitution C T missense_variant R92C 274C>T STAD-US 12 41900462 41900462 single base substitution C T upstream_gene_variant STAD-US 12 41900470 41900470 single base substitution T A synonymous_variant P352P 1056T>A STAD-US 12 41900470 41900470 single base substitution T A synonymous_variant P92P 276T>A STAD-US 12 41900470 41900470 single base substitution T A synonymous_variant P94P 282T>A STAD-US 12 41900470 41900470 single base substitution T A upstream_gene_variant STAD-US 12 41946487 41946487 single base substitution A C exon_variant STAD-US 12 41946487 41946487 single base substitution A C missense_variant Q151H 453A>C STAD-US 12 41946487 41946487 single base substitution A C missense_variant Q153H 459A>C STAD-US 12 41946487 41946487 single base substitution A C missense_variant Q411H 1233A>C STAD-US 12 41957359 41957359 single base substitution G C exon_variant STAD-US 12 41957359 41957359 single base substitution G C missense_variant E199Q 595G>C STAD-US 12 41957359 41957359 single base substitution G C missense_variant E201Q 601G>C STAD-US 12 41957359 41957359 single base substitution G C missense_variant E459Q 1375G>C STAD-US 12 41961604 41961604 single base substitution A G exon_variant STAD-US 12 41961604 41961604 single base substitution A G missense_variant E236G 707A>G STAD-US 12 41961604 41961604 single base substitution A G missense_variant E238G 713A>G STAD-US 12 41961604 41961604 single base substitution A G missense_variant E496G 1487A>G STAD-US 12 41961668 41961668 single base substitution A C exon_variant STAD-US 12 41961668 41961668 single base substitution A C missense_variant E257D 771A>C STAD-US 12 41961668 41961668 single base substitution A C missense_variant E259D 777A>C STAD-US 12 41961668 41961668 single base substitution A C missense_variant E517D 1551A>C STAD-US 12 41966380 41966380 single base substitution T G exon_variant STAD-US 12 41966380 41966380 single base substitution T G missense_variant L340R 1019T>G STAD-US 12 41966380 41966380 single base substitution T G missense_variant L342R 1025T>G STAD-US 12 41966380 41966380 single base substitution T G missense_variant L600R 1799T>G STAD-US 12 41966842 41966842 single base substitution G A exon_variant STAD-US 12 41966842 41966842 single base substitution G A missense_variant R494H 1481G>A STAD-US 12 41966842 41966842 single base substitution G A missense_variant R496H 1487G>A STAD-US 12 41966842 41966842 single base substitution G A missense_variant R754H 2261G>A STAD-US 12 41966851 41966851 single base substitution A G exon_variant STAD-US 12 41966851 41966851 single base substitution A G missense_variant D497G 1490A>G STAD-US 12 41966851 41966851 single base substitution A G missense_variant D499G 1496A>G STAD-US 12 41966851 41966851 single base substitution A G missense_variant D757G 2270A>G STAD-US 12 41966968 41966968 single base substitution A C exon_variant STAD-US 12 41966968 41966968 single base substitution A C missense_variant K536T 1607A>C STAD-US 12 41966968 41966968 single base substitution A C missense_variant K538T 1613A>C STAD-US 12 41966968 41966968 single base substitution A C missense_variant K796T 2387A>C STAD-US 12 41967067 41967067 single base substitution A T exon_variant STAD-US 12 41967067 41967067 single base substitution A T missense_variant Y569F 1706A>T STAD-US 12 41967067 41967067 single base substitution A T missense_variant Y571F 1712A>T STAD-US 12 41967067 41967067 single base substitution A T missense_variant Y829F 2486A>T STAD-US 12 41967251 41967251 single base substitution G A exon_variant STAD-US 12 41967251 41967251 single base substitution G A synonymous_variant K630K 1890G>A STAD-US 12 41967251 41967251 single base substitution G A synonymous_variant K632K 1896G>A STAD-US 12 41967251 41967251 single base substitution G A synonymous_variant K890K 2670G>A STAD-US 12 41967300 41967300 single base substitution C T exon_variant STAD-US 12 41967300 41967300 single base substitution C T stop_gained R647* 1939C>T STAD-US 12 41967300 41967300 single base substitution C T stop_gained R649* 1945C>T STAD-US 12 41967300 41967300 single base substitution C T stop_gained R907* 2719C>T STAD-US 12 41967456 41967456 single base substitution C T exon_variant STAD-US 12 41967456 41967456 single base substitution C T missense_variant R699C 2095C>T STAD-US 12 41967456 41967456 single base substitution C T missense_variant R701C 2101C>T STAD-US 12 41967456 41967456 single base substitution C T missense_variant R959C 2875C>T STAD-US 12 41967474 41967474 single base substitution C T exon_variant STAD-US 12 41967474 41967474 single base substitution C T stop_gained R705* 2113C>T STAD-US 12 41967474 41967474 single base substitution C T stop_gained R707* 2119C>T STAD-US 12 41967474 41967474 single base substitution C T stop_gained R965* 2893C>T STAD-US 12 41967558 41967558 deletion of <=200bp A - exon_variant STAD-US 12 41967558 41967558 deletion of <=200bp A - frameshift_variant K733 STAD-US 12 41967558 41967558 deletion of <=200bp A - frameshift_variant K735 STAD-US 12 41967558 41967558 deletion of <=200bp A - frameshift_variant K993 THCA-SA 12 41946539 41946539 single base substitution G A exon_variant THCA-SA 12 41946539 41946539 single base substitution G A missense_variant G169S 505G>A THCA-SA 12 41946539 41946539 single base substitution G A missense_variant G171S 511G>A THCA-SA 12 41946539 41946539 single base substitution G A missense_variant G429S 1285G>A THCA-US 12 41966431 41966431 single base substitution T C exon_variant THCA-US 12 41966431 41966431 single base substitution T C missense_variant I357T 1070T>C THCA-US 12 41966431 41966431 single base substitution T C missense_variant I359T 1076T>C THCA-US 12 41966431 41966431 single base substitution T C missense_variant I617T 1850T>C THCA-US 12 41966816 41966816 single base substitution C T exon_variant THCA-US 12 41966816 41966816 single base substitution C T synonymous_variant C485C 1455C>T THCA-US 12 41966816 41966816 single base substitution C T synonymous_variant C487C 1461C>T THCA-US 12 41966816 41966816 single base substitution C T synonymous_variant C745C 2235C>T THCA-US 12 41967097 41967097 single base substitution G T exon_variant THCA-US 12 41967097 41967097 single base substitution G T missense_variant R579I 1736G>T THCA-US 12 41967097 41967097 single base substitution G T missense_variant R581I 1742G>T THCA-US 12 41967097 41967097 single base substitution G T missense_variant R839I 2516G>T UCEC-US 12 41585270 41585270 single base substitution A G missense_variant H220R 659A>G UCEC-US 12 41585299 41585299 single base substitution G T stop_gained E230* 688G>T UCEC-US 12 41831759 41831759 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 41831759 41831759 single base substitution T C intron_variant UCEC-US 12 41831759 41831759 single base substitution T C synonymous_variant L5L 13T>C UCEC-US 12 41831773 41831773 single base substitution G T 5_prime_UTR_variant UCEC-US 12 41831773 41831773 single base substitution G T intron_variant UCEC-US 12 41831773 41831773 single base substitution G T missense_variant Q9H 27G>T UCEC-US 12 41900312 41900312 single base substitution C T missense_variant R300C 898C>T UCEC-US 12 41900312 41900312 single base substitution C T missense_variant R40C 118C>T UCEC-US 12 41900312 41900312 single base substitution C T missense_variant R42C 124C>T UCEC-US 12 41900312 41900312 single base substitution C T upstream_gene_variant UCEC-US 12 41900372 41900372 single base substitution G T missense_variant A320S 958G>T UCEC-US 12 41900372 41900372 single base substitution G T missense_variant A60S 178G>T UCEC-US 12 41900372 41900372 single base substitution G T missense_variant A62S 184G>T UCEC-US 12 41900372 41900372 single base substitution G T upstream_gene_variant UCEC-US 12 41900376 41900376 single base substitution A G missense_variant Y321C 962A>G UCEC-US 12 41900376 41900376 single base substitution A G missense_variant Y61C 182A>G UCEC-US 12 41900376 41900376 single base substitution A G missense_variant Y63C 188A>G UCEC-US 12 41900376 41900376 single base substitution A G upstream_gene_variant UCEC-US 12 41900431 41900431 single base substitution C A synonymous_variant T339T 1017C>A UCEC-US 12 41900431 41900431 single base substitution C A synonymous_variant T79T 237C>A UCEC-US 12 41900431 41900431 single base substitution C A synonymous_variant T81T 243C>A UCEC-US 12 41900431 41900431 single base substitution C A upstream_gene_variant UCEC-US 12 41900435 41900435 single base substitution G A missense_variant E341K 1021G>A UCEC-US 12 41900435 41900435 single base substitution G A missense_variant E81K 241G>A UCEC-US 12 41900435 41900435 single base substitution G A missense_variant E83K 247G>A UCEC-US 12 41900435 41900435 single base substitution G A upstream_gene_variant UCEC-US 12 41900448 41900448 single base substitution C T missense_variant A345V 1034C>T UCEC-US 12 41900448 41900448 single base substitution C T missense_variant A85V 254C>T UCEC-US 12 41900448 41900448 single base substitution C T missense_variant A87V 260C>T UCEC-US 12 41900448 41900448 single base substitution C T upstream_gene_variant UCEC-US 12 41903641 41903641 single base substitution G T exon_variant UCEC-US 12 41903641 41903641 single base substitution G T stop_gained E117* 349G>T UCEC-US 12 41903641 41903641 single base substitution G T stop_gained E119* 355G>T UCEC-US 12 41903641 41903641 single base substitution G T stop_gained E377* 1129G>T UCEC-US 12 41903667 41903667 single base substitution T G exon_variant UCEC-US 12 41903667 41903667 single base substitution T G missense_variant I125M 375T>G UCEC-US 12 41903667 41903667 single base substitution T G missense_variant I127M 381T>G UCEC-US 12 41903667 41903667 single base substitution T G missense_variant I385M 1155T>G UCEC-US 12 41961614 41961614 single base substitution G A exon_variant UCEC-US 12 41961614 41961614 single base substitution G A synonymous_variant R239R 717G>A UCEC-US 12 41961614 41961614 single base substitution G A synonymous_variant R241R 723G>A UCEC-US 12 41961614 41961614 single base substitution G A synonymous_variant R499R 1497G>A UCEC-US 12 41961623 41961623 single base substitution C A exon_variant UCEC-US 12 41961623 41961623 single base substitution C A missense_variant F242L 726C>A UCEC-US 12 41961623 41961623 single base substitution C A missense_variant F244L 732C>A UCEC-US 12 41961623 41961623 single base substitution C A missense_variant F502L 1506C>A UCEC-US 12 41966242 41966242 single base substitution G T exon_variant UCEC-US 12 41966242 41966242 single base substitution G T missense_variant G294V 881G>T UCEC-US 12 41966242 41966242 single base substitution G T missense_variant G296V 887G>T UCEC-US 12 41966242 41966242 single base substitution G T missense_variant G554V 1661G>T UCEC-US 12 41966263 41966263 single base substitution G T exon_variant UCEC-US 12 41966263 41966263 single base substitution G T missense_variant S301I 902G>T UCEC-US 12 41966263 41966263 single base substitution G T missense_variant S303I 908G>T UCEC-US 12 41966263 41966263 single base substitution G T missense_variant S561I 1682G>T UCEC-US 12 41966269 41966269 single base substitution G A exon_variant UCEC-US 12 41966269 41966269 single base substitution G A missense_variant R303Q 908G>A UCEC-US 12 41966269 41966269 single base substitution G A missense_variant R305Q 914G>A UCEC-US 12 41966269 41966269 single base substitution G A missense_variant R563Q 1688G>A UCEC-US 12 41966364 41966364 single base substitution C A exon_variant UCEC-US 12 41966364 41966364 single base substitution C A missense_variant L335M 1003C>A UCEC-US 12 41966364 41966364 single base substitution C A missense_variant L337M 1009C>A UCEC-US 12 41966364 41966364 single base substitution C A missense_variant L595M 1783C>A UCEC-US 12 41966638 41966638 single base substitution C T exon_variant UCEC-US 12 41966638 41966638 single base substitution C T missense_variant A426V 1277C>T UCEC-US 12 41966638 41966638 single base substitution C T missense_variant A428V 1283C>T UCEC-US 12 41966638 41966638 single base substitution C T missense_variant A686V 2057C>T UCEC-US 12 41966766 41966766 single base substitution G T exon_variant UCEC-US 12 41966766 41966766 single base substitution G T stop_gained E469* 1405G>T UCEC-US 12 41966766 41966766 single base substitution G T stop_gained E471* 1411G>T UCEC-US 12 41966766 41966766 single base substitution G T stop_gained E729* 2185G>T UCEC-US 12 41966788 41966788 single base substitution C A exon_variant UCEC-US 12 41966788 41966788 single base substitution C A missense_variant S476Y 1427C>A UCEC-US 12 41966788 41966788 single base substitution C A missense_variant S478Y 1433C>A UCEC-US 12 41966788 41966788 single base substitution C A missense_variant S736Y 2207C>A UCEC-US 12 41966951 41966951 single base substitution G A exon_variant UCEC-US 12 41966951 41966951 single base substitution G A synonymous_variant S530S 1590G>A UCEC-US 12 41966951 41966951 single base substitution G A synonymous_variant S532S 1596G>A UCEC-US 12 41966951 41966951 single base substitution G A synonymous_variant S790S 2370G>A UCEC-US 12 41966998 41966998 single base substitution G T exon_variant UCEC-US 12 41966998 41966998 single base substitution G T missense_variant S546I 1637G>T UCEC-US 12 41966998 41966998 single base substitution G T missense_variant S548I 1643G>T UCEC-US 12 41966998 41966998 single base substitution G T missense_variant S806I 2417G>T UCEC-US 12 41967170 41967170 single base substitution C T exon_variant UCEC-US 12 41967170 41967170 single base substitution C T synonymous_variant V603V 1809C>T UCEC-US 12 41967170 41967170 single base substitution C T synonymous_variant V605V 1815C>T UCEC-US 12 41967170 41967170 single base substitution C T synonymous_variant V863V 2589C>T UCEC-US 12 41967217 41967217 single base substitution C T exon_variant UCEC-US 12 41967217 41967217 single base substitution C T missense_variant S619F 1856C>T UCEC-US 12 41967217 41967217 single base substitution C T missense_variant S621F 1862C>T UCEC-US 12 41967217 41967217 single base substitution C T missense_variant S879F 2636C>T UCEC-US 12 41967266 41967266 single base substitution C T exon_variant UCEC-US 12 41967266 41967266 single base substitution C T synonymous_variant S635S 1905C>T UCEC-US 12 41967266 41967266 single base substitution C T synonymous_variant S637S 1911C>T UCEC-US 12 41967266 41967266 single base substitution C T synonymous_variant S895S 2685C>T UCEC-US 12 41967269 41967269 single base substitution C T exon_variant UCEC-US 12 41967269 41967269 single base substitution C T synonymous_variant D636D 1908C>T UCEC-US 12 41967269 41967269 single base substitution C T synonymous_variant D638D 1914C>T UCEC-US 12 41967269 41967269 single base substitution C T synonymous_variant D896D 2688C>T UCEC-US 12 41967301 41967301 single base substitution G A exon_variant UCEC-US 12 41967301 41967301 single base substitution G A missense_variant R647Q 1940G>A UCEC-US 12 41967301 41967301 single base substitution G A missense_variant R649Q 1946G>A UCEC-US 12 41967301 41967301 single base substitution G A missense_variant R907Q 2720G>A UCEC-US 12 41967307 41967307 single base substitution G A exon_variant UCEC-US 12 41967307 41967307 single base substitution G A missense_variant R649Q 1946G>A UCEC-US 12 41967307 41967307 single base substitution G A missense_variant R651Q 1952G>A UCEC-US 12 41967307 41967307 single base substitution G A missense_variant R909Q 2726G>A UCEC-US 12 41967365 41967365 single base substitution C T exon_variant UCEC-US 12 41967365 41967365 single base substitution C T synonymous_variant D668D 2004C>T UCEC-US 12 41967365 41967365 single base substitution C T synonymous_variant D670D 2010C>T UCEC-US 12 41967365 41967365 single base substitution C T synonymous_variant D928D 2784C>T UCEC-US 12 41967459 41967459 single base substitution C T exon_variant UCEC-US 12 41967459 41967459 single base substitution C T missense_variant R700C 2098C>T UCEC-US 12 41967459 41967459 single base substitution C T missense_variant R702C 2104C>T UCEC-US 12 41967459 41967459 single base substitution C T missense_variant R960C 2878C>T UCEC-US 12 41967475 41967475 single base substitution G A exon_variant UCEC-US 12 41967475 41967475 single base substitution G A missense_variant R705Q 2114G>A UCEC-US 12 41967475 41967475 single base substitution G A missense_variant R707Q 2120G>A UCEC-US 12 41967475 41967475 single base substitution G A missense_variant R965Q 2894G>A UCEC-US 12 41967522 41967522 single base substitution G A exon_variant UCEC-US 12 41967522 41967522 single base substitution G A missense_variant G721S 2161G>A UCEC-US 12 41967522 41967522 single base substitution G A missense_variant G723S 2167G>A UCEC-US 12 41967522 41967522 single base substitution G A missense_variant G981S 2941G>A UCEC-US 12 41967524 41967524 single base substitution C G exon_variant UCEC-US 12 41967524 41967524 single base substitution C G synonymous_variant G721G 2163C>G UCEC-US 12 41967524 41967524 single base substitution C G synonymous_variant G723G 2169C>G UCEC-US 12 41967524 41967524 single base substitution C G synonymous_variant G981G 2943C>G UCEC-US 12 41967577 41967577 single base substitution G T exon_variant UCEC-US 12 41967577 41967577 single base substitution G T missense_variant R739I 2216G>T UCEC-US 12 41967577 41967577 single base substitution G T missense_variant R741I 2222G>T UCEC-US 12 41967577 41967577 single base substitution G T missense_variant R999I 2996G>T UCEC-US 12 41967685 41967685 single base substitution C T exon_variant UCEC-US 12 41967685 41967685 single base substitution C T missense_variant T1035I 3104C>T UCEC-US 12 41967685 41967685 single base substitution C T missense_variant T775I 2324C>T UCEC-US 12 41967685 41967685 single base substitution C T missense_variant T777I 2330C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DK-A1A3-01 COSM415868 c.2826C>T p.S942S Substitution - coding silent 12:41573605-41573605 + LUAD-CHTN-MAD06-00668 COSM358683 c.1527G>T p.E509D Substitution - Missense 12:41567842-41567842 + TCGA-AD-6901-01 COSM1361503 c.1486G>C p.E496Q Substitution - Missense 12:41567801-41567801 + TCGA-D3-A5GN-06 COSM3460589 c.1196G>A p.G399E Substitution - Missense 12:41572749-41572749 + ATL085 COSM5704423 c.3106G>C p.V1036L Substitution - Missense 12:41573885-41573885 + BN19 COSM1606079 c.2522C>T p.A841V Substitution - Missense 12:41573301-41573301 + ZZUFHECRKL-G067T COSM4790792 c.1220G>A p.R407H Substitution - Missense 12:41552672-41552672 + TCGA-AP-A051-01 COSM939204 c.2167G>A p.G723S Substitution - Missense 12:41573720-41573720 + TCGA-FW-A3R5-06 COSM3871563 c.286C>T p.P96S Substitution - Missense 12:41506672-41506672 + I2L-P24Tb-Tumor-Biopsy COSM5361726 c.1758A>T p.R586S Substitution - Missense 12:41572537-41572537 + P117 COSM1736598 c.1263G>C p.E421D Substitution - Missense 12:41572816-41572816 + CADO-ES1 COSM2066372 c.1324G>T p.A442S Substitution - Missense 12:41555719-41555719 + sysucc-783T COSM5483764 c.1797A>G p.E599E Substitution - coding silent 12:41572576-41572576 + T2578 COSM939195 c.1914C>T p.D638D Substitution - coding silent 12:41573467-41573467 + ESCC_127 COSM5641451 c.79G>A p.E27K Substitution - Missense 12:41188534-41188534 + ESO-191 COSM1261885 c.1815C>G p.V605V Substitution - coding silent 12:41573368-41573368 + TCGA-12-3650-01 COSM3398706 c.2879G>A p.R960H Substitution - Missense 12:41573658-41573658 + ESO-539 COSM1261889 c.163C>T p.R55* Substitution - Nonsense 12:41506549-41506549 + CSCC-31-T COSM4453456 c.2980A>T p.K994* Substitution - Nonsense 12:41573759-41573759 + ESO-0009 COSM1261872 c.1337G>A p.R446Q Substitution - Missense 12:41555732-41555732 + TCGA-EW-A1OV-01 COSM1476528 c.1795G>A p.E599K Substitution - Missense 12:41572574-41572574 + TCGA-DK-A1AD-01 COSM1299357 c.2131G>A p.E711K Substitution - Missense 12:41573684-41573684 + HCC3 COSM939202 c.2104C>T p.R702C Substitution - Missense 12:41573657-41573657 + TCGA-AX-A060-01 COSM939180 c.2057C>T p.A686V Substitution - Missense 12:41572836-41572836 + S02246 COSM5678813 c.2632G>A p.E878K Substitution - Missense 12:41573411-41573411 + VLTS-3 COSM4147021 c.346G>C p.G116R Substitution - Missense 12:41188801-41188801 + TCGA-OL-A5RZ-01 COSM3811983 c.751G>A p.E251K Substitution - Missense 12:41567840-41567840 + TCGA-FS-A1YW-06 COSM3460567 c.577G>A p.D193N Substitution - Missense 12:41555746-41555746 + PT34 COSM5910805 c.841G>A p.E281K Substitution - Missense 12:41194186-41194186 + TCGA-AA-A00N-01 COSM298762 c.1780A>C p.S594R Substitution - Missense 12:41573333-41573333 + ESO-732 COSM1261897 c.2772C>A p.G924G Substitution - coding silent 12:41573551-41573551 + AOCS-155-3-5 COSM4150072 c.953G>C p.R318T Substitution - Missense 12:41506565-41506565 + ESO-931 COSM939199 c.2784C>T p.D928D Substitution - coding silent 12:41573563-41573563 + PCSI_0469_Pa_P_526 COSM4808804 c.70-1G>A p.? Unknown 12:41506455-41506455 + S02248 COSM5679434 c.2555G>A p.S852N Substitution - Missense 12:41573334-41573334 + SUDHL7 COSM1581448 c.1799T>G p.L600R Substitution - Missense 12:41572578-41572578 + TCGA-AP-A0LM-01 COSM939201 c.2878C>T p.R960C Substitution - Missense 12:41573657-41573657 + CNE2 COSM3368805 c.1742G>T p.R581I Substitution - Missense 12:41573295-41573295 + TCGA-DU-A5TT-01 COSM3968199 c.271C>G p.L91V Substitution - Missense 12:41506657-41506657 + 587228 COSM1220151 c.2872C>T p.R958C Substitution - Missense 12:41573651-41573651 + PDA_017 COSM4998915 c.2031G>T p.E677D Substitution - Missense 12:41572810-41572810 + pfg017T COSM939155 c.124C>T p.R42C Substitution - Missense 12:41506510-41506510 + CSCC-49-T COSM4532822 c.1148G>A p.G383E Substitution - Missense 12:41572701-41572701 + CSCC-29-T COSM693142 c.2494C>T p.P832S Substitution - Missense 12:41573273-41573273 + TCGA-AN-A046-01 COSM3811986 c.2051G>T p.S684I Substitution - Missense 12:41573604-41573604 + TCGA-AU-6004-01 COSM5135525 c.2534C>T p.A845V Substitution - Missense 12:41573313-41573313 + T39 COSM5342111 c.510C>T p.T170T Substitution - coding silent 12:41552736-41552736 + 2171681 COSM4423544 c.836T>A p.I279N Substitution - Missense 12:41194181-41194181 + PT55 COSM5942489 c.798T>A p.N266K Substitution - Missense 12:41567887-41567887 + TCGA-A3-3320-01 COSM1492876 c.1684T>C p.L562L Substitution - coding silent 12:41572463-41572463 + 8035645 COSM3384329 c.1391G>A p.R464Q Substitution - Missense 12:41563573-41563573 + YUGURT COSM693149 c.1379G>A p.R460K Substitution - Missense 12:41572932-41572932 + TCGA-FS-A1YW-06 COSM3460566 c.1351G>A p.D451N Substitution - Missense 12:41555746-41555746 + LUAD-B00523 COSM331745 c.2531C>T p.P844L Substitution - Missense 12:41573310-41573310 + QC2-32-T2 COSM5654232 c.511G>A p.G171S Substitution - Missense 12:41552737-41552737 + HCC172T COSM3704103 c.2220G>A p.K740K Substitution - coding silent 12:41573773-41573773 + 46T COSM176609 c.2120G>A p.R707Q Substitution - Missense 12:41573673-41573673 + TCGA-06-1806-01 COSM939200 c.2010C>T p.D670D Substitution - coding silent 12:41573563-41573563 + YUROC COSM5375113 c.1707C>T p.I569I Substitution - coding silent 12:41573260-41573260 + CSCC-47-T COSM4535294 c.1402G>A p.E468K Substitution - Missense 12:41572955-41572955 + TCGA-D3-A3C7-06 COSM3460634 c.2232A>T p.K744N Substitution - Missense 12:41573785-41573785 + sysucc-783T COSM5483765 c.1023A>G p.E341E Substitution - coding silent 12:41572576-41572576 + TCGA-AA-3684-01 COSM268146 c.2816G>A p.R939H Substitution - Missense 12:41573595-41573595 + RK162_C01 COSM3739649 c.1338T>C p.D446D Substitution - coding silent 12:41572891-41572891 + TCGA-AZ-6598-01 COSM1361522 c.2441G>T p.S814I Substitution - Missense 12:41573220-41573220 + TCGA-AP-A051-01 COSM939193 c.1911C>T p.S637S Substitution - coding silent 12:41573464-41573464 + TCGA-D3-A1Q6-06 COSM3460607 c.1887G>A p.M629I Substitution - Missense 12:41573440-41573440 + HDC101 COSM4635903 c.1864G>A p.E622K Substitution - Missense 12:41572643-41572643 + TCGA-AX-A0J0-01 COSM939172 c.1506C>A p.F502L Substitution - Missense 12:41567821-41567821 + ESCC-078T COSM3935941 c.1425G>C p.E475D Substitution - Missense 12:41563607-41563607 + T3091 COSM4713518 c.353A>G p.H118R Substitution - Missense 12:41509837-41509837 + CSCC-27-T COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + YUKIL COSM1705419 c.918T>G p.I306M Substitution - Missense 12:41506530-41506530 + TCGA-EE-A2MT-06 COSM3460613 c.1929C>T p.I643I Substitution - coding silent 12:41573482-41573482 + DLD1 COSM2066446 c.1832A>G p.Q611R Substitution - Missense 12:41573385-41573385 + BN38T COSM1606086 c.2910T>C p.C970C Substitution - coding silent 12:41573689-41573689 + pfg057T COSM4753629 c.2458G>T p.E820* Substitution - Nonsense 12:41573237-41573237 + Gp2D COSM4627077 c.185G>A p.G62D Substitution - Missense 12:41188640-41188640 + TCGA-EI-6507-01 COSM1562119 c.1924G>T p.E642* Substitution - Nonsense 12:41572703-41572703 + 587284 COSM1220160 c.1468A>G p.T490A Substitution - Missense 12:41573021-41573021 + CSCC-29-T COSM3792575 c.1913G>A p.R638Q Substitution - Missense 12:41572692-41572692 + PDA_017 COSM4998916 c.1257G>T p.E419D Substitution - Missense 12:41572810-41572810 + S02404 COSM5700691 c.2140A>G p.I714V Substitution - Missense 12:41572919-41572919 + TCGA-FD-A3B3-01 COSM1299354 c.2227G>C p.E743Q Substitution - Missense 12:41573006-41573006 + pfg057T COSM4753630 c.1684G>T p.E562* Substitution - Nonsense 12:41573237-41573237 + SB_07 COSM5753245 c.400G>A p.A134T Substitution - Missense 12:41509884-41509884 + TCGA-AP-A0LM-01 COSM939165 c.260C>T p.A87V Substitution - Missense 12:41506646-41506646 + PD7307a COSM5796872 c.2302G>T p.V768F Substitution - Missense 12:41573855-41573855 + PD24337a COSM5791097 c.1362C>T p.T454T Substitution - coding silent 12:41572915-41572915 + 3N59-VS-3T59 COSM4041743 c.2875C>T p.R959C Substitution - Missense 12:41573654-41573654 + TCGA-EI-6507-01 COSM1562120 c.1150G>T p.E384* Substitution - Nonsense 12:41572703-41572703 + SC_9093 COSM5558096 c.1415A>T p.K472M Substitution - Missense 12:41572968-41572968 + TCGA-AA-3966-01 COSM273096 c.1304T>G p.V435G Substitution - Missense 12:41555699-41555699 + sysucc-1370T COSM3460600 c.2410G>A p.A804T Substitution - Missense 12:41573189-41573189 + S01861 COSM5671037 c.2182C>A p.P728T Substitution - Missense 12:41572961-41572961 + TCGA-BS-A0TA-01 COSM939205 c.2943C>G p.G981G Substitution - coding silent 12:41573722-41573722 + CSCC-20-T COSM4480801 c.1681C>T p.Q561* Substitution - Nonsense 12:41573234-41573234 + SNUH_G73_S1 COSM4415288 c.1725G>A p.E575E Substitution - coding silent 12:41572504-41572504 + HT115 COSM2066467 c.2025C>T p.S675S Substitution - coding silent 12:41573578-41573578 + TCGA-EE-A3AE-06 COSM3460585 c.1766G>A p.G589E Substitution - Missense 12:41572545-41572545 + 2186 COSM5017050 c.104A>G p.E35G Substitution - Missense 12:41506490-41506490 + ESO-610 COSM1261890 c.2838A>T p.R946S Substitution - Missense 12:41573617-41573617 + C086 COSM5536906 c.3062C>T p.P1021L Substitution - Missense 12:41573841-41573841 + C086 COSM693142 c.2494C>T p.P832S Substitution - Missense 12:41573273-41573273 + TCGA-AP-A0LM-01 COSM939188 c.2589C>T p.V863V Substitution - coding silent 12:41573368-41573368 + LUAD-CHTN-MAD06-00668 COSM187799 c.753G>T p.E251D Substitution - Missense 12:41567842-41567842 + CSCC-7-T COSM4534762 c.2117G>A p.G706E Substitution - Missense 12:41572896-41572896 + sysucc-1317T COSM5448477 c.1883A>G p.K628R Substitution - Missense 12:41573436-41573436 + L18 COSM5369329 c.893C>A p.A298D Substitution - Missense 12:41506505-41506505 + 8061185 COSM3384335 c.2449C>G p.P817A Substitution - Missense 12:41573228-41573228 + PD6626a COSM3719887 c.575G>T p.G192V Substitution - Missense 12:41555744-41555744 + LN18 COSM2066469 c.2030T>A p.M677K Substitution - Missense 12:41573583-41573583 + TCGA-CL-5917-01 COSM1562122 c.663C>T p.I221I Substitution - coding silent 12:41563619-41563619 + PTC-88C COSM4147021 c.346G>C p.G116R Substitution - Missense 12:41188801-41188801 + TCGA-AA-3872-01 COSM296375 c.1419C>T p.N473N Substitution - coding silent 12:41563601-41563601 + TCGA-D7-6815-01 COSM4041719 c.1375G>C p.E459Q Substitution - Missense 12:41563557-41563557 + HN_62532 COSM125293 c.377A>G p.Y126C Substitution - Missense 12:41509861-41509861 + RK155_C01 COSM3700276 c.1994G>A p.S665N Substitution - Missense 12:41573547-41573547 + DLBCL781 COSM1581451 c.1420G>C p.D474H Substitution - Missense 12:41572973-41572973 + PD24337a COSM5791096 c.2136C>T p.T712T Substitution - coding silent 12:41572915-41572915 + TCGA-D9-A148-06 COSM3460615 c.2730C>G p.I910M Substitution - Missense 12:41573509-41573509 + 19 COSM5747383 c.1819T>C p.Y607H Substitution - Missense 12:41573372-41573372 + TCGA-D3-A5GU-06 COSM3460564 c.564G>A p.R188R Substitution - coding silent 12:41555733-41555733 + ME050T COSM230700 c.308C>T p.P103L Substitution - Missense 12:41506694-41506694 + TCGA-AA-3510-01 COSM939163 c.247G>A p.E83K Substitution - Missense 12:41506633-41506633 + TCGA-AP-A056-01 COSM939168 c.1155T>G p.I385M Substitution - Missense 12:41509865-41509865 + TCGA-A3-3320-01 COSM1492877 c.910T>C p.L304L Substitution - coding silent 12:41572463-41572463 + HCC172T COSM3704102 c.2994G>A p.K998K Substitution - coding silent 12:41573773-41573773 + J74_T COSM3954724 c.2074G>C p.V692L Substitution - Missense 12:41572853-41572853 + 8044865 COSM1157970 c.368A>G p.D123G Substitution - Missense 12:41509852-41509852 + CHC1629T COSM4791742 c.1081C>A p.P361T Substitution - Missense 12:41506693-41506693 + TCGA-BS-A0UV-01 COSM939184 c.2207C>A p.S736Y Substitution - Missense 12:41572986-41572986 + ESO-107 COSM1261880 c.1148A>T p.E383V Substitution - Missense 12:41509858-41509858 + YUMOBER COSM5375102 c.1514A>T p.E505V Substitution - Missense 12:41567829-41567829 + TCGA-AP-A0LF-01 COSM939156 c.958G>T p.A320S Substitution - Missense 12:41506570-41506570 + TCGA-AA-3715-01 COSM4713510 c.771C>T p.Y257Y Substitution - coding silent 12:41194116-41194116 + YUKAT COSM5375100 c.439T>C p.L147L Substitution - coding silent 12:41552665-41552665 + PT36 COSM5916255 c.3033A>T p.Q1011H Substitution - Missense 12:41573812-41573812 + TCGA-AP-A0LM-01 COSM939192 c.2685C>T p.S895S Substitution - coding silent 12:41573464-41573464 + TCGA-AA-A010-01 COSM283952 c.1909A>G p.I637V Substitution - Missense 12:41572688-41572688 + TCGA-FW-A3R5-06 COSM3871571 c.2610C>T p.L870L Substitution - coding silent 12:41573389-41573389 + TCGA-D7-5579-01 COSM4041734 c.1613A>C p.K538T Substitution - Missense 12:41573166-41573166 + SC_9022 COSM4041733 c.2387A>C p.K796T Substitution - Missense 12:41573166-41573166 + HCC107T COSM1606085 c.2073C>A p.H691Q Substitution - Missense 12:41573626-41573626 + 2521260 COSM5891463 c.3034G>A p.E1012K Substitution - Missense 12:41573813-41573813 + TCGA-D3-A5GO-06 COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + C058 COSM5525417 c.757T>C p.L253L Substitution - coding silent 12:41567846-41567846 + PTC-28C COSM4147020 c.333G>C p.R111R Substitution - coding silent 12:41188788-41188788 + C0010T COSM4152811 c.1243G>A p.G415S Substitution - Missense 12:41552695-41552695 + HCC107T COSM1606084 c.2847C>A p.H949Q Substitution - Missense 12:41573626-41573626 + YUHEF COSM1705426 c.904G>A p.E302K Substitution - Missense 12:41572457-41572457 + 12T COSM3710743 c.703G>A p.G235R Substitution - Missense 12:41191512-41191512 + S02344 COSM5693356 c.2925T>A p.P975P Substitution - coding silent 12:41573704-41573704 + TCGA-AA-3966-01 COSM273095 c.530T>G p.V177G Substitution - Missense 12:41555699-41555699 + TCGA-AP-A051-01 COSM939161 c.243C>A p.T81T Substitution - coding silent 12:41506629-41506629 + TCGA-DM-A285-01 COSM2066382 c.1467+8C>G p.? Unknown 12:41563657-41563657 + ESCC_65 COSM5633553 c.1776A>G p.Q592Q Substitution - coding silent 12:41572555-41572555 + TCGA-E8-A437-01 COSM3368801 c.2235C>T p.C745C Substitution - coding silent 12:41573014-41573014 + HCC107 COSM1606084 c.2847C>A p.H949Q Substitution - Missense 12:41573626-41573626 + TCGA-FW-A3R5-06 COSM3871560 c.81G>A p.K27K Substitution - coding silent 12:41506467-41506467 + TCGA-CA-6717-01 COSM1361510 c.1687C>T p.R563* Substitution - Nonsense 12:41572466-41572466 + TCGA-AA-3966-01 COSM273098 c.1802A>G p.Q601R Substitution - Missense 12:41572581-41572581 + 2521259 COSM5890722 c.2033A>T p.K678I Substitution - Missense 12:41573586-41573586 + S02360 COSM5695979 c.1914delA p.N639fs*35 Deletion - Frameshift 12:41572693-41572693 + TCGA-BR-4184-01 COSM4041740 c.2719C>T p.R907* Substitution - Nonsense 12:41573498-41573498 + TCGA-D7-6522-01 COSM4041717 c.459A>C p.Q153H Substitution - Missense 12:41552685-41552685 + TCGA-CL-5917-01 COSM1562121 c.1437C>T p.I479I Substitution - coding silent 12:41563619-41563619 + CSCC-29-T COSM4535756 c.1455G>A p.E485E Substitution - coding silent 12:41573008-41573008 + BRC48 COSM5027571 c.1669C>T p.R557C Substitution - Missense 12:41572448-41572448 + ESO-682 COSM1261892 c.899G>A p.R300H Substitution - Missense 12:41506511-41506511 + DLBCL833 COSM110358 c.2041C>T p.R681C Substitution - Missense 12:41573594-41573594 + TCGA-70-6722-01 COSM693143 c.1720C>T p.P574S Substitution - Missense 12:41573273-41573273 + C086 COSM693143 c.1720C>T p.P574S Substitution - Missense 12:41573273-41573273 + TCGA-D3-A5GN-06 COSM3460588 c.1970G>A p.G657E Substitution - Missense 12:41572749-41572749 + ESCC_65 COSM5633554 c.1002A>G p.Q334Q Substitution - coding silent 12:41572555-41572555 + TCGA-EE-A3J5-06 COSM3460630 c.2965G>A p.E989K Substitution - Missense 12:41573744-41573744 + TCGA-D3-A3C7-06 COSM3460633 c.3006A>T p.K1002N Substitution - Missense 12:41573785-41573785 + HCC70 COSM1606078 c.1381G>T p.G461* Substitution - Nonsense 12:41572934-41572934 + SA231 COSM212709 c.1213G>A p.E405K Substitution - Missense 12:41572766-41572766 + CSCC-31-T COSM4541335 c.2214G>A p.M738I Substitution - Missense 12:41573767-41573767 + TCGA-AA-3510-01 COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + TCGA-AP-A059-01 COSM939179 c.1009C>A p.L337M Substitution - Missense 12:41572562-41572562 + HCC70T COSM1606077 c.2155G>T p.G719* Substitution - Nonsense 12:41572934-41572934 + HDC101 COSM4635904 c.1090G>A p.E364K Substitution - Missense 12:41572643-41572643 + CRC-5 COSM304825 c.1348C>T p.R450W Substitution - Missense 12:41572901-41572901 + HCC107 COSM1606085 c.2073C>A p.H691Q Substitution - Missense 12:41573626-41573626 + TCGA-AX-A060-01 COSM939181 c.1283C>T p.A428V Substitution - Missense 12:41572836-41572836 + 8035645 COSM3384330 c.617G>A p.R206Q Substitution - Missense 12:41563573-41563573 + PCSI_0135_Pa_X COSM3376245 c.831A>C p.E277D Substitution - Missense 12:41572384-41572384 + SW480 COSM4655599 c.772G>A p.V258I Substitution - Missense 12:41194117-41194117 + CHC892T COSM4793817 c.1036G>A p.E346K Substitution - Missense 12:41572589-41572589 + BD87T COSM5425666 c.825T>C p.I275I Substitution - coding silent 12:41194170-41194170 + TCGA-E9-A295-01 COSM1476530 c.1965T>A p.N655K Substitution - Missense 12:41572744-41572744 + TCGA-EE-A29E-06 COSM3460572 c.1461G>A p.E487E Substitution - coding silent 12:41563643-41563643 + NCI-H2087 COSM22690 c.326+2T>A p.? Unknown 12:41506714-41506714 + TCGA-DA-A1IC-06 COSM3460578 c.1644C>T p.N548N Substitution - coding silent 12:41572423-41572423 + TCGA-BT-A20R-01 COSM1299351 c.755C>T p.S252L Substitution - Missense 12:41194100-41194100 + 8057450 COSM3384339 c.2764C>T p.R922W Substitution - Missense 12:41573543-41573543 + PCSI_0004_Pa_P_526 COSM5031850 c.996C>A p.A332A Substitution - coding silent 12:41506608-41506608 + L18 COSM5369330 c.119C>A p.A40D Substitution - Missense 12:41506505-41506505 + SC_9022 COSM4041734 c.1613A>C p.K538T Substitution - Missense 12:41573166-41573166 + TCGA-DK-A1A3-01 COSM415869 c.2052C>T p.S684S Substitution - coding silent 12:41573605-41573605 + TCGA-12-3650-01 COSM3398707 c.2105G>A p.R702H Substitution - Missense 12:41573658-41573658 + TCGA-EB-A41A-01 COSM3460592 c.1208G>A p.G403E Substitution - Missense 12:41572761-41572761 + TCGA-BR-6802-01 COSM2066449 c.2670G>A p.K890K Substitution - coding silent 12:41573449-41573449 + TCGA-FS-A1Z0-06 COSM3460625 c.2031G>A p.M677I Substitution - Missense 12:41573584-41573584 + S02237 COSM5676430 c.2775G>C p.M925I Substitution - Missense 12:41573554-41573554 + TCGA-AP-A051-01 COSM939192 c.2685C>T p.S895S Substitution - coding silent 12:41573464-41573464 + BN04T COSM1606082 c.2769T>C p.S923S Substitution - coding silent 12:41573548-41573548 + RK155_C01 COSM3700275 c.2768G>A p.S923N Substitution - Missense 12:41573547-41573547 + TCGA-B5-A11E-01 COSM939155 c.124C>T p.R42C Substitution - Missense 12:41506510-41506510 + CADO-ES1 COSM2066373 c.550G>T p.A184S Substitution - Missense 12:41555719-41555719 + SNUH_G73_S1 COSM4415289 c.951G>A p.E317E Substitution - coding silent 12:41572504-41572504 + T3021 COSM4713511 c.941C>A p.T314K Substitution - Missense 12:41506553-41506553 + P06-1696 COSM246527 c.1240G>A p.E414K Substitution - Missense 12:41572793-41572793 + ESO-0009 COSM1261873 c.563G>A p.R188Q Substitution - Missense 12:41555732-41555732 + CN-AML-NR-08-Dx COSM5425666 c.825T>C p.I275I Substitution - coding silent 12:41194170-41194170 + TCGA-FW-A3TU-06 COSM3460622 c.1984G>A p.E662K Substitution - Missense 12:41573537-41573537 + CSCC-40-T COSM4529347 c.829G>A p.E277K Substitution - Missense 12:41572382-41572382 + TCGA-D7-6522-01 COSM4041716 c.1233A>C p.Q411H Substitution - Missense 12:41552685-41552685 + TCGA-B5-A11E-01 COSM939152 c.13T>C p.L5L Substitution - coding silent 12:41437957-41437957 + S02292 COSM5687352 c.598delG p.E201fs*45 Deletion - Frameshift 12:41563554-41563554 + sysucc-834T COSM5485596 c.2271C>T p.T757T Substitution - coding silent 12:41573824-41573824 + TCGA-G5-6233-01 COSM3416825 c.2267C>G p.P756R Substitution - Missense 12:41573046-41573046 + 587238 COSM1220150 c.631G>A p.A211T Substitution - Missense 12:41563587-41563587 + TCGA-EK-A3GK-01 COSM4852908 c.1537G>A p.E513K Substitution - Missense 12:41567852-41567852 + S00539 COSM314081 c.1328C>T p.T443I Substitution - Missense 12:41572881-41572881 + TCGA-BR-6452-01 COSM4041722 c.1487A>G p.E496G Substitution - Missense 12:41567802-41567802 + S00539 COSM314082 c.2102C>T p.T701I Substitution - Missense 12:41572881-41572881 + HCC70T COSM1606078 c.1381G>T p.G461* Substitution - Nonsense 12:41572934-41572934 + SJHYPO051 COSM1676872 c.1912C>T p.R638* Substitution - Nonsense 12:41572691-41572691 + PDA_030 COSM939154 c.898C>T p.R300C Substitution - Missense 12:41506510-41506510 + TCGA-BR-8081-01 COSM4041729 c.2261G>A p.R754H Substitution - Missense 12:41573040-41573040 + 2521259 COSM5890721 c.2807A>T p.K936I Substitution - Missense 12:41573586-41573586 + TCGA-AA-A010-01 COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + TCGA-FW-A3TU-06 COSM3460621 c.2758G>A p.E920K Substitution - Missense 12:41573537-41573537 + ESO-1670 COSM1261882 c.3044C>A p.T1015N Substitution - Missense 12:41573823-41573823 + TCGA-EE-A20F-06 COSM3460603 c.2422G>A p.E808K Substitution - Missense 12:41573201-41573201 + TCGA-E9-A295-01 COSM1476531 c.1191T>A p.N397K Substitution - Missense 12:41572744-41572744 + 587238 COSM1220149 c.1405G>A p.A469T Substitution - Missense 12:41563587-41563587 + LU-1991 COSM5613549 c.2963T>C p.I988T Substitution - Missense 12:41573742-41573742 + CHC218T COSM4801081 c.475G>T p.G159* Substitution - Nonsense 12:41188930-41188930 + YULOCUS COSM5375110 c.1601C>T p.S534F Substitution - Missense 12:41573154-41573154 + YUKAT COSM5375099 c.1213T>C p.L405L Substitution - coding silent 12:41552665-41552665 + TCGA-BS-A0UF-01 COSM939208 c.2222G>T p.R741I Substitution - Missense 12:41573775-41573775 + HCT8 COSM2066445 c.2606A>G p.Q869R Substitution - Missense 12:41573385-41573385 + CSCC-19-T COSM1722488 c.2112C>T p.F704F Substitution - coding silent 12:41573665-41573665 + B98-Tumor COSM1746963 c.687G>T p.E229D Substitution - Missense 12:41563643-41563643 + TCGA-A6-6654-01 COSM1361500 c.558C>T p.D186D Substitution - coding silent 12:41555727-41555727 + OSCC-GB_00070111 COSM3710869 c.2996G>A p.R999K Substitution - Missense 12:41573775-41573775 + ATL085 COSM5704424 c.2332G>C p.V778L Substitution - Missense 12:41573885-41573885 + LUAD-2GUGK COSM400478 c.2022G>T p.M674I Substitution - Missense 12:41573575-41573575 + PDA_084 COSM5002643 c.1893G>C p.L631F Substitution - Missense 12:41572672-41572672 + TCGA-AP-A056-01 COSM939169 c.381T>G p.I127M Substitution - Missense 12:41509865-41509865 + B23 COSM1746964 c.2127T>A p.N709K Substitution - Missense 12:41572906-41572906 + sysucc-311T COSM5478239 c.2972G>A p.S991N Substitution - Missense 12:41573751-41573751 + 2521244 COSM5887407 c.884C>A p.A295E Substitution - Missense 12:41506496-41506496 + BN38 COSM1606086 c.2910T>C p.C970C Substitution - coding silent 12:41573689-41573689 + TCGA-CC-A5UC-01 COSM4911987 c.2338C>G p.Q780E Substitution - Missense 12:41573117-41573117 + C086 COSM5536907 c.2288C>T p.P763L Substitution - Missense 12:41573841-41573841 + TCGA-AP-A056-01 COSM237946 c.2370G>A p.S790S Substitution - coding silent 12:41573149-41573149 + TCGA-33-4586-01 COSM693153 c.1158C>T p.D386D Substitution - coding silent 12:41572711-41572711 + WA50 COSM237945 c.1596G>A p.S532S Substitution - coding silent 12:41573149-41573149 + 587332 COSM1220158 c.724A>G p.N242D Substitution - Missense 12:41567813-41567813 + TCGA-AA-A022-01 COSM5124390 c.1411C>T p.L471L Substitution - coding silent 12:41563593-41563593 + LP6007544-DNA_A01 COSM5034549 c.1275A>C p.E425D Substitution - Missense 12:41552727-41552727 + TCGA-AP-A0LM-01 COSM939191 c.1862C>T p.S621F Substitution - Missense 12:41573415-41573415 + TCGA-B5-A0JR-01 COSM939209 c.3104C>T p.T1035I Substitution - Missense 12:41573883-41573883 + RK202_C01 COSM3739646 c.903T>A p.D301E Substitution - Missense 12:41572456-41572456 + TCGA-AA-3956-01 COSM297141 c.1872T>C p.C624C Substitution - coding silent 12:41573425-41573425 + ESCC_136 COSM5642990 c.1716C>G p.L572L Substitution - coding silent 12:41573269-41573269 + TCGA-DD-A3A7-01 COSM4916266 c.1429A>G p.K477E Substitution - Missense 12:41563611-41563611 + ESO-732 COSM1261895 c.2195A>C p.D732A Substitution - Missense 12:41572974-41572974 + BN19 COSM1606080 c.1748C>T p.A583V Substitution - Missense 12:41573301-41573301 + TCGA-B0-5712-01 COSM1492873 c.2283G>C p.K761N Substitution - Missense 12:41573836-41573836 + TCGA-D3-A3MR-06 COSM3460619 c.1980C>T p.I660I Substitution - coding silent 12:41573533-41573533 + U343 COSM5712626 c.2304T>G p.N768K Substitution - Missense 12:41573083-41573083 + 8016537 COSM939192 c.2685C>T p.S895S Substitution - coding silent 12:41573464-41573464 + TCGA-AA-3510-01 COSM939162 c.1021G>A p.E341K Substitution - Missense 12:41506633-41506633 + PCSI_0171_Pa_P_526 COSM5420518 c.2505C>T p.S835S Substitution - coding silent 12:41573284-41573284 + pfg017T COSM939154 c.898C>T p.R300C Substitution - Missense 12:41506510-41506510 + TCGA-AP-A0LM-01 COSM939164 c.1034C>T p.A345V Substitution - Missense 12:41506646-41506646 + ESCC_126 COSM5641243 c.1972T>A p.L658I Substitution - Missense 12:41573525-41573525 + ESO-083 COSM1261879 c.493G>T p.D165Y Substitution - Missense 12:41552719-41552719 + TCGA-BR-4357-01 COSM1705421 c.1048C>T p.R350C Substitution - Missense 12:41506660-41506660 + CHC892T COSM4959945 c.2487C>T p.Y829Y Substitution - coding silent 12:41573266-41573266 + 12T COSM107277 c.1401G>A p.M467I Substitution - Missense 12:41572954-41572954 + CSCC-27-T COSM4532170 c.1087G>A p.D363N Substitution - Missense 12:41572640-41572640 + P117 COSM1736597 c.2037G>C p.E679D Substitution - Missense 12:41572816-41572816 + HCC078T COSM548226 c.1472C>A p.P491Q Substitution - Missense 12:41573025-41573025 + 2250229 COSM1261893 c.125G>A p.R42H Substitution - Missense 12:41506511-41506511 + 8044865 COSM1157969 c.1142A>G p.D381G Substitution - Missense 12:41509852-41509852 + TCGA-EE-A2MT-06 COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + sysucc-1421T COSM3460601 c.1636G>A p.A546T Substitution - Missense 12:41573189-41573189 + TCGA-AZ-4681-01 COSM3688190 c.2800G>A p.E934K Substitution - Missense 12:41573579-41573579 + CSCC-40-T COSM4529346 c.1603G>A p.E535K Substitution - Missense 12:41572382-41572382 + TCGA-EM-A2OW-01 COSM3368799 c.1076T>C p.I359T Substitution - Missense 12:41572629-41572629 + TCGA-BS-A0UF-01 COSM176609 c.2120G>A p.R707Q Substitution - Missense 12:41573673-41573673 + YUQUEST COSM5375098 c.745G>A p.E249K Substitution - Missense 12:41194090-41194090 + TCGA-AP-A0LF-01 COSM939157 c.184G>T p.A62S Substitution - Missense 12:41506570-41506570 + YUKIL COSM1705420 c.144T>G p.I48M Substitution - Missense 12:41506530-41506530 + TCGA-AP-A056-01 COSM939200 c.2010C>T p.D670D Substitution - coding silent 12:41573563-41573563 + TCGA-AP-A0LM-01 COSM939202 c.2104C>T p.R702C Substitution - Missense 12:41573657-41573657 + TCGA-AZ-6598-01 COSM1361523 c.1667G>T p.S556I Substitution - Missense 12:41573220-41573220 + TCGA-BC-A217-01 COSM4936865 c.2850G>T p.L950L Substitution - coding silent 12:41573629-41573629 + TCGA-AA-3684-01 COSM268145 c.2042G>A p.R681H Substitution - Missense 12:41573595-41573595 + TCGA-DD-A3A7-01 COSM4916267 c.655A>G p.K219E Substitution - Missense 12:41563611-41563611 + BD87T COSM5505343 c.362G>A p.G121E Substitution - Missense 12:41188817-41188817 + TCGA-FW-A3R5-06 COSM3871569 c.741G>A p.E247E Substitution - coding silent 12:41567830-41567830 + TCGA-A3-3363-01 COSM1492875 c.1607A>T p.K536I Substitution - Missense 12:41573160-41573160 + sysucc-1163T COSM4392686 c.1949G>A p.S650N Substitution - Missense 12:41572728-41572728 + TCGA-EE-A2GD-06 COSM3460627 c.2835G>A p.E945E Substitution - coding silent 12:41573614-41573614 + 0061_CRUK_PC_0061_T1_DNA COSM5423936 c.1587_1588insA p.Q532fs*19 Insertion - Frameshift 12:41572366-41572367 + BN38 COSM1606087 c.2136T>C p.C712C Substitution - coding silent 12:41573689-41573689 + BCM723T COSM4956274 c.1421A>T p.D474V Substitution - Missense 12:41563603-41563603 + Pat_63_B COSM5840935 c.2408G>A p.S803N Substitution - Missense 12:41573187-41573187 + HCC59 COSM3704094 c.1623G>A p.E541E Substitution - coding silent 12:41573176-41573176 + PTC-6C COSM4147020 c.333G>C p.R111R Substitution - coding silent 12:41188788-41188788 + 2521244 COSM5887408 c.110C>A p.A37E Substitution - Missense 12:41506496-41506496 + TCGA-BS-A0UF-01 COSM939207 c.2996G>T p.R999I Substitution - Missense 12:41573775-41573775 + HCC50T COSM1606076 c.1044C>A p.L348L Substitution - coding silent 12:41572597-41572597 + TCGA-B5-A0JR-01 COSM939210 c.2330C>T p.T777I Substitution - Missense 12:41573883-41573883 + SC_9093 COSM5558095 c.2189A>T p.K730M Substitution - Missense 12:41572968-41572968 + BRC48 COSM5027572 c.895C>T p.R299C Substitution - Missense 12:41572448-41572448 + TCGA-A7-A26G-01 COSM1476533 c.1764C>T p.H588H Substitution - coding silent 12:41573317-41573317 + LIM2405 COSM4641707 c.1243G>T p.G415C Substitution - Missense 12:41552695-41552695 + LUAD-B00523 COSM331746 c.1757C>T p.P586L Substitution - Missense 12:41573310-41573310 + TCGA-AA-3510-01 COSM1361508 c.1678G>T p.E560* Substitution - Nonsense 12:41572457-41572457 + 7T COSM3710869 c.2996G>A p.R999K Substitution - Missense 12:41573775-41573775 + TCGA-CG-4476-01 COSM4041710 c.171T>A p.P57P Substitution - coding silent 12:41506557-41506557 + 587228 COSM1220152 c.2098C>T p.R700C Substitution - Missense 12:41573651-41573651 + TCGA-85-6560-01 COSM693151 c.1213G>C p.E405Q Substitution - Missense 12:41572766-41572766 + SE4 COSM1165892 c.84C>T p.P28P Substitution - coding silent 12:41188539-41188539 + HCT8 COSM2066446 c.1832A>G p.Q611R Substitution - Missense 12:41573385-41573385 + TCGA-CK-5916-01 COSM3688516 c.2204G>T p.S735I Substitution - Missense 12:41572983-41572983 + TCGA-G4-6297-01 COSM187805 c.2026G>A p.E676K Substitution - Missense 12:41573579-41573579 + TCGA-D1-A103-01 COSM939198 c.1952G>A p.R651Q Substitution - Missense 12:41573505-41573505 + HCC50 COSM1606076 c.1044C>A p.L348L Substitution - coding silent 12:41572597-41572597 + CSCC-55-T COSM4480752 c.2449C>T p.P817S Substitution - Missense 12:41573228-41573228 + Co92 COSM33203 c.1576G>A p.G526R Substitution - Missense 12:41573129-41573129 + J80_T COSM3954733 c.2901G>C p.R967S Substitution - Missense 12:41573680-41573680 + 2_RESISTANT COSM1722488 c.2112C>T p.F704F Substitution - coding silent 12:41573665-41573665 + TCGA-FD-A3B3-01 COSM1299355 c.1453G>C p.E485Q Substitution - Missense 12:41573006-41573006 + ESO-931 COSM939200 c.2010C>T p.D670D Substitution - coding silent 12:41573563-41573563 + 51T COSM106765 c.2323G>A p.V775M Substitution - Missense 12:41573876-41573876 + TCGA-DK-A1AD-01 COSM1299356 c.2905G>A p.E969K Substitution - Missense 12:41573684-41573684 + T39 COSM5342110 c.1284C>T p.T428T Substitution - coding silent 12:41552736-41552736 + TCGA-CG-5732-01 COSM4041736 c.2486A>T p.Y829F Substitution - Missense 12:41573265-41573265 + TCGA-56-6546-01 COSM693138 c.2777C>G p.T926S Substitution - Missense 12:41573556-41573556 + SC_9083 COSM5563793 c.2338C>A p.Q780K Substitution - Missense 12:41573117-41573117 + 3N39-VS-3T39 COSM4981479 c.1486C>T p.R496C Substitution - Missense 12:41573039-41573039 + TCGA-EE-A2GC-06 COSM3460569 c.1375G>A p.E459K Substitution - Missense 12:41563557-41563557 + S02246 COSM5678814 c.1858G>A p.E620K Substitution - Missense 12:41573411-41573411 + TCGA-B9-4113-01 COSM2066287 c.724C>T p.R242* Substitution - Nonsense 12:41191533-41191533 + TCGA-22-4613-01 COSM693146 c.2260C>G p.R754G Substitution - Missense 12:41573039-41573039 + S02344 COSM5693357 c.2151T>A p.P717P Substitution - coding silent 12:41573704-41573704 + T3225 COSM4713530 c.2696G>A p.R899Q Substitution - Missense 12:41573475-41573475 + TCGA-CC-A7II-01 COSM4937658 c.947C>A p.A316D Substitution - Missense 12:41572500-41572500 + T2225 COSM4713523 c.2591A>G p.E864G Substitution - Missense 12:41573370-41573370 + TCGA-HC-8258-01 COSM4392687 c.1175G>A p.S392N Substitution - Missense 12:41572728-41572728 + TCGA-GF-A6C9-06 COSM3460566 c.1351G>A p.D451N Substitution - Missense 12:41555746-41555746 + TCGA-66-2757-01 COSM693145 c.1526C>A p.T509N Substitution - Missense 12:41573079-41573079 + Pat_66_A COSM5840930 c.893G>A p.G298E Substitution - Missense 12:41572446-41572446 + HCC67 COSM22692 c.1941C>A p.P647P Substitution - coding silent 12:41573494-41573494 + SC_9027 COSM268146 c.2816G>A p.R939H Substitution - Missense 12:41573595-41573595 + TCGA-66-2757-01 COSM693144 c.2300C>A p.T767N Substitution - Missense 12:41573079-41573079 + STC297 COSM2066274 c.389delG p.G132fs*96 Deletion - Frameshift 12:41188844-41188844 + S02404 COSM5700692 c.1366A>G p.I456V Substitution - Missense 12:41572919-41572919 + 8016537 COSM939193 c.1911C>T p.S637S Substitution - coding silent 12:41573464-41573464 + TCGA-A5-A0GV-01 COSM939158 c.962A>G p.Y321C Substitution - Missense 12:41506574-41506574 + ZZUFHECRKL-G010T COSM5435265 c.1668A>G p.G556G Substitution - coding silent 12:41572447-41572447 + HCC2998 COSM548218 c.2894G>A p.R965Q Substitution - Missense 12:41573673-41573673 + TCGA-CA-6717-01 COSM1361501 c.1390C>T p.R464* Substitution - Nonsense 12:41563572-41563572 + Pat_41_B COSM5840933 c.1616C>T p.T539I Substitution - Missense 12:41573169-41573169 + 587224 COSM1220154 c.955C>T p.P319S Substitution - Missense 12:41572508-41572508 + 469 COSM4437546 c.1351G>T p.D451Y Substitution - Missense 12:41555746-41555746 + STC291 COSM5051582 c.2350G>A p.G784R Substitution - Missense 12:41573129-41573129 + PCSI_0171_Pa_P_526 COSM5420519 c.1731C>T p.S577S Substitution - coding silent 12:41573284-41573284 + TCGA-D3-A5GO-06 COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + CNE2 COSM3368804 c.2516G>T p.R839I Substitution - Missense 12:41573295-41573295 + PCSI_0469_Pa_P_526 COSM4808803 c.844-1G>A p.? Unknown 12:41506455-41506455 + P06-1696 COSM246528 c.2014G>A p.E672K Substitution - Missense 12:41572793-41572793 + CSCC-47-T COSM4535293 c.2176G>A p.E726K Substitution - Missense 12:41572955-41572955 + NB-2074 COSM1287070 c.1504C>A p.L502I Substitution - Missense 12:41573057-41573057 + SUDHL7 COSM1581449 c.1025T>G p.L342R Substitution - Missense 12:41572578-41572578 + TCGA-24-1556-01 COSM111687 c.821_823delAAG p.E278delE Deletion - In frame 12:41572374-41572376 + DLBCL899 COSM1581446 c.1718C>A p.A573E Substitution - Missense 12:41572497-41572497 + BCM723T COSM4956274 c.1421A>T p.D474V Substitution - Missense 12:41563603-41563603 + TCGA-34-5231-01 COSM693154 c.1837G>C p.D613H Substitution - Missense 12:41572616-41572616 + RK202_C01 COSM3739645 c.1677T>A p.D559E Substitution - Missense 12:41572456-41572456 + TCGA-EI-6511-01 COSM1562122 c.663C>T p.I221I Substitution - coding silent 12:41563619-41563619 + T3255 COSM4713520 c.1670G>A p.R557H Substitution - Missense 12:41572449-41572449 + HN_62926 COSM125294 c.1030T>C p.Y344H Substitution - Missense 12:41572583-41572583 + TCGA-FJ-A3ZF-01 COSM3792576 c.1139G>A p.R380Q Substitution - Missense 12:41572692-41572692 + TCGA-DU-A5TT-01 COSM3968195 c.902A>G p.N301S Substitution - Missense 12:41506514-41506514 + YUAKER COSM1705421 c.1048C>T p.R350C Substitution - Missense 12:41506660-41506660 + PD6626a COSM3719889 c.1348G>A p.G450R Substitution - Missense 12:41555743-41555743 + CSCC-20-T COSM4480800 c.2455C>T p.Q819* Substitution - Nonsense 12:41573234-41573234 + S00035 COSM5656670 c.1768C>T p.Q590* Substitution - Nonsense 12:41572547-41572547 + DLD1 COSM2066445 c.2606A>G p.Q869R Substitution - Missense 12:41573385-41573385 + S00944 COSM314084 c.2701A>T p.I901F Substitution - Missense 12:41573480-41573480 + T3091 COSM4713517 c.1127A>G p.H376R Substitution - Missense 12:41509837-41509837 + TCGA-AP-A051-01 COSM939160 c.1017C>A p.T339T Substitution - coding silent 12:41506629-41506629 + TCGA-AP-A0LM-01 COSM939177 c.908G>T p.S303I Substitution - Missense 12:41572461-41572461 + CSCC-19-T COSM1722487 c.2886C>T p.F962F Substitution - coding silent 12:41573665-41573665 + sysucc-1370T COSM3460601 c.1636G>A p.A546T Substitution - Missense 12:41573189-41573189 + CHC1629T COSM4791742 c.1081C>A p.P361T Substitution - Missense 12:41506693-41506693 + B98 COSM1746962 c.1461G>T p.E487D Substitution - Missense 12:41563643-41563643 + BN28 COSM1606074 c.70-9T>A p.? Unknown 12:41506447-41506447 + TCGA-B5-A11E-01 COSM939163 c.247G>A p.E83K Substitution - Missense 12:41506633-41506633 + ESO-327 COSM1261887 c.683C>A p.P228Q Substitution - Missense 12:41563639-41563639 + HCC2998 COSM176609 c.2120G>A p.R707Q Substitution - Missense 12:41573673-41573673 + CSCC-27-T COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + TCGA-D3-A1Q6-06 COSM3460606 c.2661G>A p.M887I Substitution - Missense 12:41573440-41573440 + LU-1991 COSM5613550 c.2189T>C p.I730T Substitution - Missense 12:41573742-41573742 + TCGA-CA-6718-01 COSM1361512 c.1869C>A p.D623E Substitution - Missense 12:41572648-41572648 + TCGA-BR-4357-01 COSM1705422 c.274C>T p.R92C Substitution - Missense 12:41506660-41506660 + TCGA-HC-8258-01 COSM4392686 c.1949G>A p.S650N Substitution - Missense 12:41572728-41572728 + ESO-083 COSM1261878 c.1267G>T p.D423Y Substitution - Missense 12:41552719-41552719 + TCGA-33-4586-01 COSM693152 c.1932C>T p.D644D Substitution - coding silent 12:41572711-41572711 + ESCC_1 COSM5622406 c.509C>A p.T170N Substitution - Missense 12:41552735-41552735 + VLTS-2 COSM5702796 c.1336C>T p.R446W Substitution - Missense 12:41555731-41555731 + PT50 COSM5937575 c.2082C>G p.D694E Substitution - Missense 12:41572861-41572861 + TCGA-EE-A2GC-06 COSM3460570 c.601G>A p.E201K Substitution - Missense 12:41563557-41563557 + TCGA-39-5037-01 COSM693158 c.1299C>A p.S433R Substitution - Missense 12:41552751-41552751 + TCGA-D9-A148-06 COSM3460616 c.1956C>G p.I652M Substitution - Missense 12:41573509-41573509 + BCM723T COSM4956275 c.647A>T p.D216V Substitution - Missense 12:41563603-41563603 + PDA_030 COSM939155 c.124C>T p.R42C Substitution - Missense 12:41506510-41506510 + ZZUFHECRKL-G067T COSM4790793 c.446G>A p.R149H Substitution - Missense 12:41552672-41552672 + sysucc-834T COSM5485593 c.1921C>T p.R641W Substitution - Missense 12:41573474-41573474 + YUTUCO COSM3460560 c.1009G>A p.D337N Substitution - Missense 12:41506621-41506621 + HCC3T COSM939201 c.2878C>T p.R960C Substitution - Missense 12:41573657-41573657 + GHE0955 COSM5714862 c.2577G>T p.Q859H Substitution - Missense 12:41573356-41573356 + TCGA-AD-6901-01 COSM1361504 c.712G>C p.E238Q Substitution - Missense 12:41567801-41567801 + ESO-327 COSM1261886 c.1457C>A p.P486Q Substitution - Missense 12:41563639-41563639 + CSCC-52-T COSM4539785 c.2736G>A p.K912K Substitution - coding silent 12:41573515-41573515 + OSCC-GB_00460111 COSM176609 c.2120G>A p.R707Q Substitution - Missense 12:41573673-41573673 + S02289 COSM5685932 c.1915G>A p.G639R Substitution - Missense 12:41573468-41573468 + TCGA-AA-3510-01 COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + ESO-0025 COSM1261874 c.1649A>G p.E550G Substitution - Missense 12:41572428-41572428 + S02237 COSM5676431 c.2001G>C p.M667I Substitution - Missense 12:41573554-41573554 + TCGA-D1-A103-01 COSM939197 c.2726G>A p.R909Q Substitution - Missense 12:41573505-41573505 + TCGA-DU-A5TT-01 COSM3968198 c.1045C>G p.L349V Substitution - Missense 12:41506657-41506657 + RK162_C01 COSM3739648 c.2112T>C p.D704D Substitution - coding silent 12:41572891-41572891 + LP6007544-DNA_A01 COSM5034550 c.501A>C p.E167D Substitution - Missense 12:41552727-41552727 + HCC67T COSM1606081 c.2715C>A p.P905P Substitution - coding silent 12:41573494-41573494 + TCGA-AO-A12E-01 COSM3811979 c.1512G>A p.E504E Substitution - coding silent 12:41567827-41567827 + TCGA-B5-A11E-01 COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + TCGA-EM-A3O7-01 COSM3368805 c.1742G>T p.R581I Substitution - Missense 12:41573295-41573295 + TCGA-BS-A0UV-01 COSM939173 c.732C>A p.F244L Substitution - Missense 12:41567821-41567821 + DLBCL899 COSM1581447 c.944C>A p.A315E Substitution - Missense 12:41572497-41572497 + DLBCL781 COSM1581450 c.2194G>C p.D732H Substitution - Missense 12:41572973-41572973 + TCGA-FW-A3R5-06 COSM3871568 c.1515G>A p.E505E Substitution - coding silent 12:41567830-41567830 + 188 COSM1741546 c.604C>T p.H202Y Substitution - Missense 12:41189059-41189059 + TCGA-AP-A0LM-01 COSM939176 c.1682G>T p.S561I Substitution - Missense 12:41572461-41572461 + TCGA-FW-A3R5-06 COSM939196 c.2720G>A p.R907Q Substitution - Missense 12:41573499-41573499 + TCGA-D3-A5GO-06 COSM3460576 c.727G>T p.E243* Substitution - Nonsense 12:41567816-41567816 + TCGA-A6-2672-01 COSM291062 c.2953A>C p.I985L Substitution - Missense 12:41573732-41573732 + NB-2074 COSM1287069 c.2278C>A p.L760I Substitution - Missense 12:41573057-41573057 + 2_PRE-TREATMENT COSM1722487 c.2886C>T p.F962F Substitution - coding silent 12:41573665-41573665 + DU-145 COSM1676872 c.1912C>T p.R638* Substitution - Nonsense 12:41572691-41572691 + 4095_T COSM3954731 c.1699G>T p.E567* Substitution - Nonsense 12:41573252-41573252 + LP6005500-DNA_C01 COSM5952347 c.1976A>G p.K659R Substitution - Missense 12:41573529-41573529 + sysucc-1421T COSM3460600 c.2410G>A p.A804T Substitution - Missense 12:41573189-41573189 + NCI-H2126 COSM22684 c.1103G>A p.R368K Substitution - Missense 12:41572656-41572656 + ESO-0025 COSM1261875 c.875A>G p.E292G Substitution - Missense 12:41572428-41572428 + S00944 COSM314084 c.2701A>T p.I901F Substitution - Missense 12:41573480-41573480 + SC_9083 COSM5563794 c.1564C>A p.Q522K Substitution - Missense 12:41573117-41573117 + NCI-H128 COSM22692 c.1941C>A p.P647P Substitution - coding silent 12:41573494-41573494 + TCGA-FW-A3R5-06 COSM170067 c.1946G>A p.R649Q Substitution - Missense 12:41573499-41573499 + TCGA-EW-A1OV-01 COSM1476529 c.1021G>A p.E341K Substitution - Missense 12:41572574-41572574 + PD4104a COSM163404 c.1167C>T p.Y389Y Substitution - coding silent 12:41572720-41572720 + TCGA-FW-A3R5-06 COSM3871559 c.855G>A p.K285K Substitution - coding silent 12:41506467-41506467 + TCGA-AC-A5XS-01 COSM4391086 c.2658G>A p.K886K Substitution - coding silent 12:41573437-41573437 + DLBCL-PatientG COSM221359 c.214A>T p.M72L Substitution - Missense 12:41506600-41506600 + PD6626a COSM3719890 c.574G>A p.G192R Substitution - Missense 12:41555743-41555743 + TCGA-EB-A41A-01 COSM3460591 c.1982G>A p.G661E Substitution - Missense 12:41572761-41572761 + 2521260 COSM5891464 c.2260G>A p.E754K Substitution - Missense 12:41573813-41573813 + YUMOBER COSM5375103 c.740A>T p.E247V Substitution - Missense 12:41567829-41567829 + T3024 COSM3871565 c.1354C>T p.R452W Substitution - Missense 12:41555749-41555749 + TCGA-FW-A3R5-06 COSM3871566 c.580C>T p.R194W Substitution - Missense 12:41555749-41555749 + 3N39-VS-3T39 COSM4981478 c.2260C>T p.R754C Substitution - Missense 12:41573039-41573039 + TCGA-EB-A41A-01 COSM3460551 c.764G>A p.G255E Substitution - Missense 12:41194109-41194109 + OSCC-GB_00120111 COSM3710743 c.703G>A p.G235R Substitution - Missense 12:41191512-41191512 + 2497767 COSM5750029 c.181C>A p.P61T Substitution - Missense 12:41506567-41506567 + CN-AML-08-T COSM4415289 c.951G>A p.E317E Substitution - coding silent 12:41572504-41572504 + PCSI_0004_Pa_P_526 COSM5031851 c.222C>A p.A74A Substitution - coding silent 12:41506608-41506608 + TCGA-AO-A12E-01 COSM3811980 c.738G>A p.E246E Substitution - coding silent 12:41567827-41567827 + CHC892T COSM4793816 c.1810G>A p.E604K Substitution - Missense 12:41572589-41572589 + TCGA-EB-A3XB-01 COSM3460601 c.1636G>A p.A546T Substitution - Missense 12:41573189-41573189 + GHE0955 COSM5714863 c.1803G>T p.Q601H Substitution - Missense 12:41573356-41573356 + DU-145 COSM1676873 c.1138C>T p.R380* Substitution - Nonsense 12:41572691-41572691 + TCGA-63-5128-01 COSM693160 c.970G>T p.A324S Substitution - Missense 12:41506582-41506582 + BN04 COSM1606082 c.2769T>C p.S923S Substitution - coding silent 12:41573548-41573548 + TCGA-AP-A0LM-01 COSM939196 c.2720G>A p.R907Q Substitution - Missense 12:41573499-41573499 + 49M COSM5592479 c.243C>A p.C81* Substitution - Nonsense 12:41188698-41188698 + TCGA-CA-6717-01 COSM1361506 c.763G>T p.E255* Substitution - Nonsense 12:41567852-41567852 + LIM2405 COSM4641708 c.469G>T p.G157C Substitution - Missense 12:41552695-41552695 + T3225 COSM4041740 c.2719C>T p.R907* Substitution - Nonsense 12:41573498-41573498 + TCGA-EI-6884-01 COSM3416828 c.2988G>T p.M996I Substitution - Missense 12:41573767-41573767 + sysucc-834T COSM5485592 c.2695C>T p.R899W Substitution - Missense 12:41573474-41573474 + S00539 COSM314081 c.1328C>T p.T443I Substitution - Missense 12:41572881-41572881 + HCC50T COSM1606075 c.1818C>A p.L606L Substitution - coding silent 12:41572597-41572597 + CHC097T COSM4790793 c.446G>A p.R149H Substitution - Missense 12:41552672-41552672 + TCGA-EE-A29L-06 COSM3460595 c.1425G>A p.K475K Substitution - coding silent 12:41572978-41572978 + HCC172 COSM3704103 c.2220G>A p.K740K Substitution - coding silent 12:41573773-41573773 + 40M COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + TCGA-AC-A5XS-01 COSM4391087 c.1884G>A p.K628K Substitution - coding silent 12:41573437-41573437 + Gp5D COSM4629100 c.476G>A p.G159E Substitution - Missense 12:41188931-41188931 + PD6721a COSM237945 c.1596G>A p.S532S Substitution - coding silent 12:41573149-41573149 + HCC3 COSM939201 c.2878C>T p.R960C Substitution - Missense 12:41573657-41573657 + CRC-4 COSM304415 c.1547G>A p.S516N Substitution - Missense 12:41573100-41573100 + TCGA-CA-6717-01 COSM1361505 c.1537G>T p.E513* Substitution - Nonsense 12:41567852-41567852 + TCGA-EI-6884-01 COSM3416829 c.2214G>T p.M738I Substitution - Missense 12:41573767-41573767 + TCGA-FW-A3R5-06 COSM3871575 c.3003G>A p.K1001K Substitution - coding silent 12:41573782-41573782 + TCGA-DU-A5TT-01 COSM3968196 c.128A>G p.N43S Substitution - Missense 12:41506514-41506514 + PD9064a COSM5775839 c.83C>A p.P28H Substitution - Missense 12:41188538-41188538 + SS6003109 COSM3980133 c.2195T>C p.L732P Substitution - Missense 12:41573748-41573748 + 587376 COSM170067 c.1946G>A p.R649Q Substitution - Missense 12:41573499-41573499 + PT27 COSM3460567 c.577G>A p.D193N Substitution - Missense 12:41555746-41555746 + 8035732 COSM3384332 c.2166T>C p.D722D Substitution - coding silent 12:41572945-41572945 + TCGA-DA-A1IC-06 COSM3460579 c.870C>T p.N290N Substitution - coding silent 12:41572423-41572423 + 2_PRE-TREATMENT COSM1722488 c.2112C>T p.F704F Substitution - coding silent 12:41573665-41573665 + RK128_C01 COSM3739651 c.2375C>A p.S792Y Substitution - Missense 12:41573154-41573154 + TCGA-AA-3672-01 COSM267163 c.2195T>G p.L732R Substitution - Missense 12:41573748-41573748 + TCGA-AN-A046-01 COSM3811985 c.2825G>T p.S942I Substitution - Missense 12:41573604-41573604 + TCGA-22-4613-01 COSM693147 c.1486C>G p.R496G Substitution - Missense 12:41573039-41573039 + TCGA-DA-A1I4-06 COSM3460561 c.235G>A p.D79N Substitution - Missense 12:41506621-41506621 + BD124T COSM5492941 c.432C>G p.G144G Substitution - coding silent 12:41188887-41188887 + PT50 COSM5937576 c.1308C>G p.D436E Substitution - Missense 12:41572861-41572861 + 1N05-VS-1T05 COSM2066483 c.2159G>T p.G720V Substitution - Missense 12:41573712-41573712 + HCC59 COSM3704093 c.2397G>A p.E799E Substitution - coding silent 12:41573176-41573176 + U343 COSM5712627 c.1530T>G p.N510K Substitution - Missense 12:41573083-41573083 + TCGA-BS-A0UF-01 COSM939175 c.887G>T p.G296V Substitution - Missense 12:41572440-41572440 + TCGA-AP-A056-01 COSM237945 c.1596G>A p.S532S Substitution - coding silent 12:41573149-41573149 + HCC59T COSM3704094 c.1623G>A p.E541E Substitution - coding silent 12:41573176-41573176 + 2_RESISTANT COSM1722487 c.2886C>T p.F962F Substitution - coding silent 12:41573665-41573665 + TCGA-EE-A29V-06 COSM3460583 c.957C>T p.P319P Substitution - coding silent 12:41572510-41572510 + CSCC-55-T COSM4480753 c.1675C>T p.P559S Substitution - Missense 12:41573228-41573228 + LIM2551 COSM4643710 c.115G>A p.A39T Substitution - Missense 12:41188570-41188570 + TCGA-AP-A056-01 COSM939199 c.2784C>T p.D928D Substitution - coding silent 12:41573563-41573563 + CSCC-7-T COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + TCGA-BS-A0UF-01 COSM548218 c.2894G>A p.R965Q Substitution - Missense 12:41573673-41573673 + TCGA-D7-6815-01 COSM4041720 c.601G>C p.E201Q Substitution - Missense 12:41563557-41563557 + Pat_63_B COSM5840936 c.1634G>A p.S545N Substitution - Missense 12:41573187-41573187 + SS6003109 COSM3980132 c.2969T>C p.L990P Substitution - Missense 12:41573748-41573748 + TCGA-AP-A0LM-01 COSM939189 c.1815C>T p.V605V Substitution - coding silent 12:41573368-41573368 + sysucc-1577T COSM1361500 c.558C>T p.D186D Substitution - coding silent 12:41555727-41555727 + TCGA-EE-A3AF-06 COSM3460610 c.1888G>A p.E630K Substitution - Missense 12:41573441-41573441 + TCGA-BC-A217-01 COSM4936866 c.2076G>T p.L692L Substitution - coding silent 12:41573629-41573629 + TCGA-D3-A5GO-06 COSM3460575 c.1501G>T p.E501* Substitution - Nonsense 12:41567816-41567816 + C058 COSM5525416 c.1531T>C p.L511L Substitution - coding silent 12:41567846-41567846 + TCGA-CG-4476-01 COSM4041709 c.945T>A p.P315P Substitution - coding silent 12:41506557-41506557 + PD7341a COSM5782051 c.637G>A p.G213S Substitution - Missense 12:41189092-41189092 + BN19T COSM1606080 c.1748C>T p.A583V Substitution - Missense 12:41573301-41573301 + TCGA-BS-A0UV-01 COSM939187 c.1643G>T p.S548I Substitution - Missense 12:41573196-41573196 + B23-Tumor COSM1746965 c.1353T>A p.N451K Substitution - Missense 12:41572906-41572906 + ZZUFHECRKL-G010T COSM5435266 c.894A>G p.G298G Substitution - coding silent 12:41572447-41572447 + TCGA-CC-A5UC-01 COSM4911988 c.1564C>G p.Q522E Substitution - Missense 12:41573117-41573117 + S00944 COSM314083 c.1927A>T p.I643F Substitution - Missense 12:41573480-41573480 + 262T COSM3384340 c.1990C>T p.R664W Substitution - Missense 12:41573543-41573543 + AOCS-155-3-5 COSM4150073 c.179G>C p.R60T Substitution - Missense 12:41506565-41506565 + CSCC-31-T COSM4453457 c.2206A>T p.K736* Substitution - Nonsense 12:41573759-41573759 + PCSI_0135_Pa_X COSM3376244 c.1605A>C p.E535D Substitution - Missense 12:41572384-41572384 + TCGA-CG-5732-01 COSM4041737 c.1712A>T p.Y571F Substitution - Missense 12:41573265-41573265 + HCC67 COSM1606081 c.2715C>A p.P905P Substitution - coding silent 12:41573494-41573494 + HCC59T COSM3704093 c.2397G>A p.E799E Substitution - coding silent 12:41573176-41573176 + TCGA-EE-A2MD-06 COSM3460598 c.1552A>T p.M518L Substitution - Missense 12:41573105-41573105 + 587284 COSM1220159 c.2242A>G p.T748A Substitution - Missense 12:41573021-41573021 + 3006_T COSM3954721 c.743A>G p.Q248R Substitution - Missense 12:41194088-41194088 + 3N59-VS-3T59 COSM4041744 c.2101C>T p.R701C Substitution - Missense 12:41573654-41573654 + TCGA-BR-6802-01 COSM2066450 c.1896G>A p.K632K Substitution - coding silent 12:41573449-41573449 + TCGA-EE-A29L-06 COSM3460594 c.2199G>A p.K733K Substitution - coding silent 12:41572978-41572978 + TCGA-ER-A19G-06 COSM3460637 c.2305C>T p.H769Y Substitution - Missense 12:41573858-41573858 + QC2-04-T2 COSM3416828 c.2988G>T p.M996I Substitution - Missense 12:41573767-41573767 + TCGA-AP-A0LM-01 COSM170067 c.1946G>A p.R649Q Substitution - Missense 12:41573499-41573499 + 587376 COSM939196 c.2720G>A p.R907Q Substitution - Missense 12:41573499-41573499 + TCGA-D5-6530-01 COSM5162214 c.1406C>T p.A469V Substitution - Missense 12:41563588-41563588 + PACA115 COSM1157969 c.1142A>G p.D381G Substitution - Missense 12:41509852-41509852 + S02299 COSM693146 c.2260C>G p.R754G Substitution - Missense 12:41573039-41573039 + QGP1 COSM2066493 c.2297C>T p.T766M Substitution - Missense 12:41573850-41573850 + T2979 COSM4713509 c.610C>T p.R204C Substitution - Missense 12:41189065-41189065 + TCGA-AM-5821-01 COSM3688192 c.3096G>A p.S1032S Substitution - coding silent 12:41573875-41573875 + TCGA-EE-A2MT-06 COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + ESO-610 COSM1261891 c.2064A>T p.R688S Substitution - Missense 12:41573617-41573617 + TCGA-70-6722-01 COSM693142 c.2494C>T p.P832S Substitution - Missense 12:41573273-41573273 + CSCC-29-T COSM3792576 c.1139G>A p.R380Q Substitution - Missense 12:41572692-41572692 + RK128_C01 COSM3739652 c.1601C>A p.S534Y Substitution - Missense 12:41573154-41573154 + 0061_CRUK_PC_0061_T1_DNA COSM5423937 c.813_814insA p.Q274fs*19 Insertion - Frameshift 12:41572366-41572367 + M027 COSM1739874 c.1662A>C p.E554D Substitution - Missense 12:41573215-41573215 + Gp2D COSM2066282 c.595T>G p.Y199D Substitution - Missense 12:41189050-41189050 + SW948 COSM2066357 c.1064C>T p.P355L Substitution - Missense 12:41506676-41506676 + ATL035 COSM3384339 c.2764C>T p.R922W Substitution - Missense 12:41573543-41573543 + TCGA-A6-2672-01 COSM5081665 c.1594_1595insAAG p.E536_G537insE Insertion - In frame 12:41572373-41572374 + SJHYPO051 COSM1676873 c.1138C>T p.R380* Substitution - Nonsense 12:41572691-41572691 + GC6_T COSM150855 c.46delA p.K16fs*38 Deletion - Frameshift 12:41437990-41437990 + TCGA-AD-6901-01 COSM1361498 c.436G>C p.E146Q Substitution - Missense 12:41552662-41552662 + TCGA-AA-A00N-01 COSM298763 c.2554A>C p.S852R Substitution - Missense 12:41573333-41573333 + M027 COSM1739873 c.2436A>C p.E812D Substitution - Missense 12:41573215-41573215 + TCGA-AA-3672-01 COSM267164 c.2969T>G p.L990R Substitution - Missense 12:41573748-41573748 + 2186 COSM5017049 c.878A>G p.E293G Substitution - Missense 12:41506490-41506490 + TCGA-BS-A0UV-01 COSM939185 c.1433C>A p.S478Y Substitution - Missense 12:41572986-41572986 + TCGA-A3-3363-01 COSM1492874 c.2381A>T p.K794I Substitution - Missense 12:41573160-41573160 + TCGA-B0-5712-01 COSM1492872 c.3057G>C p.K1019N Substitution - Missense 12:41573836-41573836 + T613 COSM4713526 c.2686G>A p.D896N Substitution - Missense 12:41573465-41573465 + TCGA-B5-A0JY-01 COSM939183 c.1411G>T p.E471* Substitution - Nonsense 12:41572964-41572964 + STC291 COSM33203 c.1576G>A p.G526R Substitution - Missense 12:41573129-41573129 + TCGA-A5-A0GV-01 COSM939159 c.188A>G p.Y63C Substitution - Missense 12:41506574-41506574 + BN04T COSM1606083 c.1995T>C p.S665S Substitution - coding silent 12:41573548-41573548 + S02299 COSM693147 c.1486C>G p.R496G Substitution - Missense 12:41573039-41573039 + CN-AML-NR-08-Dx COSM4415289 c.951G>A p.E317E Substitution - coding silent 12:41572504-41572504 + 587332 COSM1220157 c.1498A>G p.N500D Substitution - Missense 12:41567813-41567813 + TCGA-EE-A2GO-06 COSM3460551 c.764G>A p.G255E Substitution - Missense 12:41194109-41194109 + TCGA-FW-A3R5-06 COSM3871562 c.1060C>T p.P354S Substitution - Missense 12:41506672-41506672 + TCGA-A6-5665-01 COSM5089373 c.1595_1597delAAG p.E536delE Deletion - In frame 12:41572374-41572376 + J80_T COSM3954734 c.2127G>C p.R709S Substitution - Missense 12:41573680-41573680 + TCGA-CA-6718-01 COSM1361513 c.1095C>A p.D365E Substitution - Missense 12:41572648-41572648 + ME020T COSM225687 c.826C>T p.H276Y Substitution - Missense 12:41194171-41194171 + 587222 COSM1220155 c.1742C>A p.S581Y Substitution - Missense 12:41572521-41572521 + SJRHB013_D COSM3737464 c.975G>A p.K325K Substitution - coding silent 12:41572528-41572528 + SNU-C4 COSM4652238 c.312C>T p.C104C Substitution - coding silent 12:41188767-41188767 + TCGA-AP-A0LM-01 COSM939171 c.723G>A p.R241R Substitution - coding silent 12:41567812-41567812 + YUGURT COSM693148 c.2153G>A p.R718K Substitution - Missense 12:41572932-41572932 + HT115 COSM2066466 c.2799C>T p.S933S Substitution - coding silent 12:41573578-41573578 + 134427 COSM322594 c.1260C>A p.Y420* Substitution - Nonsense 12:41552712-41552712 + CSCC-29-T COSM693143 c.1720C>T p.P574S Substitution - Missense 12:41573273-41573273 + T613 COSM4713527 c.1912G>A p.D638N Substitution - Missense 12:41573465-41573465 + TCGA-EE-A3J5-06 COSM3460631 c.2191G>A p.E731K Substitution - Missense 12:41573744-41573744 + TCGA-AX-A0J0-01 COSM939173 c.732C>A p.F244L Substitution - Missense 12:41567821-41567821 + YUROC COSM5375112 c.2481C>T p.I827I Substitution - coding silent 12:41573260-41573260 + ESCC_126 COSM5641242 c.2746T>A p.L916I Substitution - Missense 12:41573525-41573525 + SC_9027 COSM268145 c.2042G>A p.R681H Substitution - Missense 12:41573595-41573595 + SB_07 COSM5753244 c.1174G>A p.A392T Substitution - Missense 12:41509884-41509884 + SJRHB013 COSM3737463 c.1749G>A p.K583K Substitution - coding silent 12:41572528-41572528 + TCGA-CG-4440-01 COSM1581448 c.1799T>G p.L600R Substitution - Missense 12:41572578-41572578 + CRC-4 COSM304416 c.2321G>A p.S774N Substitution - Missense 12:41573100-41573100 + pfg035T COSM4753627 c.1487G>C p.R496P Substitution - Missense 12:41573040-41573040 + HT115 COSM237946 c.2370G>A p.S790S Substitution - coding silent 12:41573149-41573149 + TCGA-AP-A0LM-01 COSM939170 c.1497G>A p.R499R Substitution - coding silent 12:41567812-41567812 + VLTS-2 COSM5702797 c.562C>T p.R188W Substitution - Missense 12:41555731-41555731 + BN28 COSM1606073 c.844-9T>A p.? Unknown 12:41506447-41506447 + YULOCUS COSM5375109 c.2375C>T p.S792F Substitution - Missense 12:41573154-41573154 + TCGA-29-1761-01 COSM1322520 c.2143G>C p.D715H Substitution - Missense 12:41572922-41572922 + PDA_084 COSM5002644 c.1119G>C p.L373F Substitution - Missense 12:41572672-41572672 + TCGA-AA-3966-01 COSM273097 c.1028A>G p.Q343R Substitution - Missense 12:41572581-41572581 + TCGA-AP-A0LM-01 COSM939190 c.2636C>T p.S879F Substitution - Missense 12:41573415-41573415 + 1N05-VS-1T05 COSM2066482 c.2933G>T p.G978V Substitution - Missense 12:41573712-41573712 + SS6003117 COSM431081 c.725G>A p.R242Q Substitution - Missense 12:41191534-41191534 + TCGA-BR-4184-01 COSM2066426 c.1496A>G p.D499G Substitution - Missense 12:41573049-41573049 + TCGA-85-6560-01 COSM693150 c.1987G>C p.E663Q Substitution - Missense 12:41572766-41572766 + LUAD-NYU408 COSM374098 c.989T>A p.L330Q Substitution - Missense 12:41572542-41572542 + sysucc-834T COSM5485595 c.3045C>T p.T1015T Substitution - coding silent 12:41573824-41573824 + T36 COSM4713515 c.216G>A p.M72I Substitution - Missense 12:41506602-41506602 + SW403 COSM4655202 c.81G>A p.E27E Substitution - coding silent 12:41188536-41188536 + S02289 COSM5685931 c.2689G>A p.G897R Substitution - Missense 12:41573468-41573468 + TCGA-EI-6511-01 COSM1562121 c.1437C>T p.I479I Substitution - coding silent 12:41563619-41563619 + RKO COSM4647601 c.201G>A p.V67V Substitution - coding silent 12:41188656-41188656 + TCGA-BS-A0UF-01 COSM939153 c.27G>T p.Q9H Substitution - Missense 12:41437971-41437971 + TCGA-EK-A3GK-01 COSM4852909 c.763G>A p.E255K Substitution - Missense 12:41567852-41567852 + TCGA-G4-6588-01 COSM1361521 c.1199A>G p.E400G Substitution - Missense 12:41572752-41572752 + I2L-P24Tb-Tumor-Biopsy COSM5361727 c.984A>T p.R328S Substitution - Missense 12:41572537-41572537 + B98-Tumor COSM1746962 c.1461G>T p.E487D Substitution - Missense 12:41563643-41563643 + 19 COSM5747382 c.2593T>C p.Y865H Substitution - Missense 12:41573372-41573372 + DLBCL833 COSM1581452 c.2815C>T p.R939C Substitution - Missense 12:41573594-41573594 + ESCC_1 COSM5622405 c.1283C>A p.T428N Substitution - Missense 12:41552735-41552735 + CSCC-6-T COSM4533098 c.1172G>A p.S391N Substitution - Missense 12:41572725-41572725 + TCGA-56-6546-01 COSM693139 c.2003C>G p.T668S Substitution - Missense 12:41573556-41573556 + sysucc-311T COSM5478240 c.2198G>A p.S733N Substitution - Missense 12:41573751-41573751 + 60T COSM110358 c.2041C>T p.R681C Substitution - Missense 12:41573594-41573594 + YUTUCO COSM3460561 c.235G>A p.D79N Substitution - Missense 12:41506621-41506621 + AD35 COSM5966449 c.2021G>A p.R674K Substitution - Missense 12:41572800-41572800 + EV005-R7 COSM4410801 c.3106G>T p.V1036L Substitution - Missense 12:41573885-41573885 + HCT116 COSM2066423 c.2248C>T p.L750F Substitution - Missense 12:41573027-41573027 + TCGA-63-5131-01 COSM693165 c.794G>A p.G265E Substitution - Missense 12:41194139-41194139 + TCGA-18-3409-01 COSM693149 c.1379G>A p.R460K Substitution - Missense 12:41572932-41572932 + T3024 COSM3871566 c.580C>T p.R194W Substitution - Missense 12:41555749-41555749 + TCGA-AP-A059-01 COSM939194 c.2688C>T p.D896D Substitution - coding silent 12:41573467-41573467 + 49M COSM3460625 c.2031G>A p.M677I Substitution - Missense 12:41573584-41573584 + 4095_T COSM3954730 c.2473G>T p.E825* Substitution - Nonsense 12:41573252-41573252 + CHC892T COSM4793817 c.1036G>A p.E346K Substitution - Missense 12:41572589-41572589 + S00035 COSM5656671 c.994C>T p.Q332* Substitution - Nonsense 12:41572547-41572547 + HN_62421 COSM125295 c.1571C>G p.S524C Substitution - Missense 12:41573124-41573124 + TCGA-29-1761-01 COSM1322521 c.1369G>C p.D457H Substitution - Missense 12:41572922-41572922 + TCGA-B5-A0JY-01 COSM939182 c.2185G>T p.E729* Substitution - Nonsense 12:41572964-41572964 + TCGA-CA-6717-01 COSM1361502 c.616C>T p.R206* Substitution - Nonsense 12:41563572-41563572 + CN-AML-08-T COSM4415288 c.1725G>A p.E575E Substitution - coding silent 12:41572504-41572504 + CN-AML-NR-08-Dx COSM4415288 c.1725G>A p.E575E Substitution - coding silent 12:41572504-41572504 + TCGA-D3-A5GU-06 COSM3460563 c.1338G>A p.R446R Substitution - coding silent 12:41555733-41555733 + TCGA-EE-A2MD-06 COSM3460597 c.2326A>T p.M776L Substitution - Missense 12:41573105-41573105 + J74_T COSM3954725 c.1300G>C p.V434L Substitution - Missense 12:41572853-41572853 + TCGA-34-5231-01 COSM693155 c.1063G>C p.D355H Substitution - Missense 12:41572616-41572616 + 8057450 COSM3384340 c.1990C>T p.R664W Substitution - Missense 12:41573543-41573543 + TCGA-EE-A3AF-06 COSM3460609 c.2662G>A p.E888K Substitution - Missense 12:41573441-41573441 + RW2982 COSM4649509 c.264C>T p.C88C Substitution - coding silent 12:41188719-41188719 + TCGA-AA-3956-01 COSM297142 c.2646T>C p.C882C Substitution - coding silent 12:41573425-41573425 + Pat_41_B COSM5840932 c.2390C>T p.T797I Substitution - Missense 12:41573169-41573169 + LUAD-NYU408 COSM374097 c.1763T>A p.L588Q Substitution - Missense 12:41572542-41572542 + TCGA-B5-A11E-01 COSM939150 c.688G>T p.E230* Substitution - Nonsense 12:41191497-41191497 + DN11190 COSM5796872 c.2302G>T p.V768F Substitution - Missense 12:41573855-41573855 + PD6626a COSM3719886 c.1349G>T p.G450V Substitution - Missense 12:41555744-41555744 + TCGA-BR-8680-01 COSM4041743 c.2875C>T p.R959C Substitution - Missense 12:41573654-41573654 + TCGA-FW-A3R5-06 COSM3871565 c.1354C>T p.R452W Substitution - Missense 12:41555749-41555749 + 0076_CRUK_PC_0076_T1_DNA COSM5422716 c.777A>C p.S259S Substitution - coding silent 12:41194122-41194122 + YUAKER COSM1705422 c.274C>T p.R92C Substitution - Missense 12:41506660-41506660 + 46T COSM548218 c.2894G>A p.R965Q Substitution - Missense 12:41573673-41573673 + ESO-1670 COSM1261883 c.2270C>A p.T757N Substitution - Missense 12:41573823-41573823 + TCGA-EM-A2OW-01 COSM3368798 c.1850T>C p.I617T Substitution - Missense 12:41572629-41572629 + Pat_66_A COSM5840929 c.1667G>A p.G556E Substitution - Missense 12:41572446-41572446 + TCGA-BR-4184-01 COSM4041741 c.1945C>T p.R649* Substitution - Nonsense 12:41573498-41573498 + 3844_T COSM3954728 c.1398C>T p.I466I Substitution - coding silent 12:41572951-41572951 + PD2173a COSM28441 c.881A>G p.D294G Substitution - Missense 12:41572434-41572434 + HCC172 COSM3704102 c.2994G>A p.K998K Substitution - coding silent 12:41573773-41573773 + TCGA-EI-6917-01 COSM939162 c.1021G>A p.E341K Substitution - Missense 12:41506633-41506633 + TCGA-06-1806-01 COSM939199 c.2784C>T p.D928D Substitution - coding silent 12:41573563-41573563 + TCGA-DA-A1I4-06 COSM3460560 c.1009G>A p.D337N Substitution - Missense 12:41506621-41506621 + TCGA-CG-5726-01 COSM2066474 c.2893C>T p.R965* Substitution - Nonsense 12:41573672-41573672 + HT115 COSM2066287 c.724C>T p.R242* Substitution - Nonsense 12:41191533-41191533 + TCGA-OL-A5RZ-01 COSM3811982 c.1525G>A p.E509K Substitution - Missense 12:41567840-41567840 + TCGA-C5-A0TN-01 COSM4856159 c.258C>T p.R86R Substitution - coding silent 12:41188713-41188713 + BN38T COSM1606087 c.2136T>C p.C712C Substitution - coding silent 12:41573689-41573689 + HCT15 COSM2066445 c.2606A>G p.Q869R Substitution - Missense 12:41573385-41573385 + S00539 COSM314082 c.2102C>T p.T701I Substitution - Missense 12:41572881-41572881 + TCGA-AA-3872-01 COSM296374 c.645C>T p.N215N Substitution - coding silent 12:41563601-41563601 + LN18 COSM2066468 c.2804T>A p.M935K Substitution - Missense 12:41573583-41573583 + ESCC-078T COSM3935942 c.651G>C p.E217D Substitution - Missense 12:41563607-41563607 + C089 COSM3460637 c.2305C>T p.H769Y Substitution - Missense 12:41573858-41573858 + PTC-28C COSM4147021 c.346G>C p.G116R Substitution - Missense 12:41188801-41188801 + CHC097T COSM4790792 c.1220G>A p.R407H Substitution - Missense 12:41552672-41552672 + S00944 COSM314083 c.1927A>T p.I643F Substitution - Missense 12:41573480-41573480 + PD7307a COSM5796871 c.3076G>T p.V1026F Substitution - Missense 12:41573855-41573855 + 7T COSM3710870 c.2222G>A p.R741K Substitution - Missense 12:41573775-41573775 + CSCC-7-T COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + AOCS-131-1-3 COSM4150077 c.2882A>G p.E961G Substitution - Missense 12:41573661-41573661 + CHC097T COSM4790793 c.446G>A p.R149H Substitution - Missense 12:41552672-41552672 + TCGA-AP-A051-01 COSM939203 c.2941G>A p.G981S Substitution - Missense 12:41573720-41573720 + TCGA-BS-A0UV-01 COSM939172 c.1506C>A p.F502L Substitution - Missense 12:41567821-41567821 + TCGA-D7-5579-01 COSM4041733 c.2387A>C p.K796T Substitution - Missense 12:41573166-41573166 + TCGA-AP-A059-01 COSM939178 c.1783C>A p.L595M Substitution - Missense 12:41572562-41572562 + HCC2998 COSM548218 c.2894G>A p.R965Q Substitution - Missense 12:41573673-41573673 + ESO-732 COSM1261898 c.1998C>A p.G666G Substitution - coding silent 12:41573551-41573551 + S01861 COSM5671038 c.1408C>A p.P470T Substitution - Missense 12:41572961-41572961 + HCC50 COSM1606075 c.1818C>A p.L606L Substitution - coding silent 12:41572597-41572597 + HCT116 COSM2066424 c.1474C>T p.L492F Substitution - Missense 12:41573027-41573027 + T3021 COSM4713512 c.167C>A p.T56K Substitution - Missense 12:41506553-41506553 + BN04 COSM1606083 c.1995T>C p.S665S Substitution - coding silent 12:41573548-41573548 + T36 COSM4713514 c.990G>A p.M330I Substitution - Missense 12:41506602-41506602 + HCC70 COSM1606077 c.2155G>T p.G719* Substitution - Nonsense 12:41572934-41572934 + ESO-539 COSM1261888 c.937C>T p.R313* Substitution - Nonsense 12:41506549-41506549 + TCGA-BP-4329-01 COSM3359992 c.1811A>T p.E604V Substitution - Missense 12:41572590-41572590 + TCGA-CG-5726-01 COSM2066475 c.2119C>T p.R707* Substitution - Nonsense 12:41573672-41573672 + TCGA-CA-6717-01 COSM1361511 c.913C>T p.R305* Substitution - Nonsense 12:41572466-41572466 + HCC67T COSM22692 c.1941C>A p.P647P Substitution - coding silent 12:41573494-41573494 + 8061185 COSM3384336 c.1675C>G p.P559A Substitution - Missense 12:41573228-41573228 + TCGA-EB-A3XB-01 COSM3460600 c.2410G>A p.A804T Substitution - Missense 12:41573189-41573189 + TCGA-IN-8462-01 COSM4041713 c.1056T>A p.P352P Substitution - coding silent 12:41506668-41506668 + TCGA-AA-A010-01 COSM283951 c.1135A>G p.I379V Substitution - Missense 12:41572688-41572688 + BCM723T COSM4956275 c.647A>T p.D216V Substitution - Missense 12:41563603-41563603 + YURAY COSM5375106 c.2277C>T p.S759S Substitution - coding silent 12:41573056-41573056 + SW948 COSM2066358 c.290C>T p.P97L Substitution - Missense 12:41506676-41506676 + S02292 COSM5687351 c.1372delG p.E459fs*45 Deletion - Frameshift 12:41563554-41563554 + TCGA-BS-A0UF-01 COSM939174 c.1661G>T p.G554V Substitution - Missense 12:41572440-41572440 + 587224 COSM1220153 c.1729C>T p.P577S Substitution - Missense 12:41572508-41572508 + 8035732 COSM3384333 c.1392T>C p.D464D Substitution - coding silent 12:41572945-41572945 + 262T COSM3384339 c.2764C>T p.R922W Substitution - Missense 12:41573543-41573543 + CHC892T COSM4959945 c.2487C>T p.Y829Y Substitution - coding silent 12:41573266-41573266 + WA50 COSM237946 c.2370G>A p.S790S Substitution - coding silent 12:41573149-41573149 + T3255 COSM4713521 c.896G>A p.R299H Substitution - Missense 12:41572449-41572449 + TCGA-G3-A6UC-01 COSM4929862 c.1361T>A p.L454* Substitution - Nonsense 12:41555756-41555756 + TCGA-18-3409-01 COSM693148 c.2153G>A p.R718K Substitution - Missense 12:41572932-41572932 + PT27 COSM3460566 c.1351G>A p.D451N Substitution - Missense 12:41555746-41555746 + ESO-0129 COSM1261877 c.2205A>T p.K735N Substitution - Missense 12:41573758-41573758 + TCGA-FJ-A3ZF-01 COSM3792575 c.1913G>A p.R638Q Substitution - Missense 12:41572692-41572692 + HCT15 COSM2066446 c.1832A>G p.Q611R Substitution - Missense 12:41573385-41573385 + T2225 COSM4713524 c.1817A>G p.E606G Substitution - Missense 12:41573370-41573370 + TCGA-BR-4184-01 COSM2066425 c.2270A>G p.D757G Substitution - Missense 12:41573049-41573049 + TCGA-CK-5916-01 COSM3688517 c.1430G>T p.S477I Substitution - Missense 12:41572983-41572983 + TCGA-EM-A3O7-01 COSM3368804 c.2516G>T p.R839I Substitution - Missense 12:41573295-41573295 + TCGA-AA-A010-01 COSM283948 c.13T>G p.L5V Substitution - Missense 12:41437957-41437957 + TCGA-BP-4329-01 COSM3359993 c.1037A>T p.E346V Substitution - Missense 12:41572590-41572590 + Gp5D COSM4627077 c.185G>A p.G62D Substitution - Missense 12:41188640-41188640 + TCGA-AA-3510-01 COSM1361509 c.904G>T p.E302* Substitution - Nonsense 12:41572457-41572457 + PT36 COSM5916256 c.2259A>T p.Q753H Substitution - Missense 12:41573812-41573812 + OSCC-GB_00460111 COSM548218 c.2894G>A p.R965Q Substitution - Missense 12:41573673-41573673 + TCGA-EE-A29E-06 COSM3460573 c.687G>A p.E229E Substitution - coding silent 12:41563643-41563643 + EV005-R7 COSM4410802 c.2332G>T p.V778L Substitution - Missense 12:41573885-41573885 + BN28T COSM1606073 c.844-9T>A p.? Unknown 12:41506447-41506447 + CHC1725T COSM4800726 c.290T>A p.L97Q Substitution - Missense 12:41188745-41188745 + pfg035T COSM4753626 c.2261G>C p.R754P Substitution - Missense 12:41573040-41573040 + C089 COSM3460636 c.3079C>T p.H1027Y Substitution - Missense 12:41573858-41573858 + TCGA-G5-6233-01 COSM3416826 c.1493C>G p.P498R Substitution - Missense 12:41573046-41573046 + PD10010a COSM283950 c.1688G>A p.R563Q Substitution - Missense 12:41572467-41572467 + T3225 COSM4041741 c.1945C>T p.R649* Substitution - Nonsense 12:41573498-41573498 + TCGA-HU-A4GN-01 COSM4041726 c.777A>C p.E259D Substitution - Missense 12:41567866-41567866 + DN11190 COSM5796871 c.3076G>T p.V1026F Substitution - Missense 12:41573855-41573855 + PTC-1C COSM4147020 c.333G>C p.R111R Substitution - coding silent 12:41188788-41188788 + LUAD-2GUGK COSM400477 c.2796G>T p.M932I Substitution - Missense 12:41573575-41573575 + B23 COSM1746965 c.1353T>A p.N451K Substitution - Missense 12:41572906-41572906 + TCGA-13-1488-01 COSM75903 c.1134G>T p.K378N Substitution - Missense 12:41572687-41572687 + TCGA-13-0916-01 COSM80324 c.471C>A p.G157G Substitution - coding silent 12:41552697-41552697 + PD18022a COSM5797663 c.156C>T p.C52C Substitution - coding silent 12:41188611-41188611 + CHC892T COSM4959946 c.1713C>T p.Y571Y Substitution - coding silent 12:41573266-41573266 + TCGA-B5-A11E-01 COSM939154 c.898C>T p.R300C Substitution - Missense 12:41506510-41506510 + ESO-0129 COSM1261876 c.2979A>T p.K993N Substitution - Missense 12:41573758-41573758 + TCGA-A6-6654-01 COSM1361499 c.1332C>T p.D444D Substitution - coding silent 12:41555727-41555727 + sysucc-1577T COSM1361499 c.1332C>T p.D444D Substitution - coding silent 12:41555727-41555727 + QC2-04-T2 COSM3416829 c.2214G>T p.M738I Substitution - Missense 12:41573767-41573767 + CSCC-7-T COSM4534763 c.1343G>A p.G448E Substitution - Missense 12:41572896-41572896 + S01020 COSM5664870 c.396C>A p.G132G Substitution - coding silent 12:41188851-41188851 + TCGA-DI-A0WH-01 COSM939151 c.782T>A p.I261N Substitution - Missense 12:41194127-41194127 + TCGA-G4-6297-01 COSM3688190 c.2800G>A p.E934K Substitution - Missense 12:41573579-41573579 + TCGA-G4-6588-01 COSM1361520 c.1973A>G p.E658G Substitution - Missense 12:41572752-41572752 + TCGA-A6-2672-01 COSM291061 c.2179A>C p.I727L Substitution - Missense 12:41573732-41573732 + 2250229 COSM1261892 c.899G>A p.R300H Substitution - Missense 12:41506511-41506511 + HT115 COSM237945 c.1596G>A p.S532S Substitution - coding silent 12:41573149-41573149 + TCGA-BS-A0TC-01 COSM939167 c.355G>T p.E119* Substitution - Nonsense 12:41509839-41509839 + BN19T COSM1606079 c.2522C>T p.A841V Substitution - Missense 12:41573301-41573301 + YUHEF COSM1705425 c.1678G>A p.E560K Substitution - Missense 12:41572457-41572457 + TCGA-D3-A3MR-06 COSM3460618 c.2754C>T p.I918I Substitution - coding silent 12:41573533-41573533 + TCGA-AM-5821-01 COSM3688193 c.2322G>A p.S774S Substitution - coding silent 12:41573875-41573875 + TCGA-IN-8462-01 COSM4041714 c.282T>A p.P94P Substitution - coding silent 12:41506668-41506668 + CHC892T COSM4959946 c.1713C>T p.Y571Y Substitution - coding silent 12:41573266-41573266 + YUKLAB COSM1705423 c.1063_1064CC>TT p.P355L Substitution - Missense 12:41506675-41506676 + TCGA-BS-A0TA-01 COSM939206 c.2169C>G p.G723G Substitution - coding silent 12:41573722-41573722 + TCGA-A7-A26G-01 COSM1476532 c.2538C>T p.H846H Substitution - coding silent 12:41573317-41573317 + TCGA-CG-4440-01 COSM1581449 c.1025T>G p.L342R Substitution - Missense 12:41572578-41572578 + ME050T COSM230701 c.1082C>T p.P361L Substitution - Missense 12:41506694-41506694 + ESO-191 COSM1261884 c.2589C>G p.V863V Substitution - coding silent 12:41573368-41573368 + SJRHB013 COSM3737464 c.975G>A p.K325K Substitution - coding silent 12:41572528-41572528 + sysucc-1163T COSM4392687 c.1175G>A p.S392N Substitution - Missense 12:41572728-41572728 + TCGA-EE-A29V-06 COSM3460582 c.1731C>T p.P577P Substitution - coding silent 12:41572510-41572510 + 469 COSM4437547 c.577G>T p.D193Y Substitution - Missense 12:41555746-41555746 + TCGA-CC-A7II-01 COSM4937657 c.1721C>A p.A574D Substitution - Missense 12:41572500-41572500 + CRC-5 COSM304826 c.2122C>T p.R708W Substitution - Missense 12:41572901-41572901 + T3225 COSM4713510 c.771C>T p.Y257Y Substitution - coding silent 12:41194116-41194116 + ESCC_136 COSM5642989 c.2490C>G p.L830L Substitution - coding silent 12:41573269-41573269 + CSCC-49-T COSM4532821 c.1922G>A p.G641E Substitution - Missense 12:41572701-41572701 + CHC097T COSM4790792 c.1220G>A p.R407H Substitution - Missense 12:41552672-41552672 + TCGA-EE-A3AE-06 COSM3460586 c.992G>A p.G331E Substitution - Missense 12:41572545-41572545 + PT55 COSM5942488 c.1572T>A p.N524K Substitution - Missense 12:41567887-41567887 + CHC1629T COSM4791743 c.307C>A p.P103T Substitution - Missense 12:41506693-41506693 + ESO-720 COSM1261894 c.51G>T p.L17L Substitution - coding silent 12:41437995-41437995 + TCGA-E8-A437-01 COSM3368802 c.1461C>T p.C487C Substitution - coding silent 12:41573014-41573014 + CSCC-27-T COSM4532169 c.1861G>A p.D621N Substitution - Missense 12:41572640-41572640 + 134427 COSM322593 c.486C>A p.Y162* Substitution - Nonsense 12:41552712-41552712 + GC1_T COSM146331 c.1756C>G p.P586A Substitution - Missense 12:41573309-41573309 + QC2-32-T2 COSM5654231 c.1285G>A p.G429S Substitution - Missense 12:41552737-41552737 + TCGA-FW-A3R5-06 COSM2066287 c.724C>T p.R242* Substitution - Nonsense 12:41191533-41191533 + 40M COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + 587222 COSM1220156 c.968C>A p.S323Y Substitution - Missense 12:41572521-41572521 + ESO-107 COSM1261881 c.374A>T p.E125V Substitution - Missense 12:41509858-41509858 + HCC078T COSM548225 c.2246C>A p.P749Q Substitution - Missense 12:41573025-41573025 + TCGA-FW-A3R5-06 COSM3871572 c.1836C>T p.L612L Substitution - coding silent 12:41573389-41573389 + TCGA-AA-A010-01 COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + TCGA-39-5037-01 COSM693159 c.525C>A p.S175R Substitution - Missense 12:41552751-41552751 + T2578 COSM939194 c.2688C>T p.D896D Substitution - coding silent 12:41573467-41573467 + B23-Tumor COSM1746964 c.2127T>A p.N709K Substitution - Missense 12:41572906-41572906 + OSCC-GB_00070111 COSM3710870 c.2222G>A p.R741K Substitution - Missense 12:41573775-41573775 + CHC1725T COSM4800726 c.290T>A p.L97Q Substitution - Missense 12:41188745-41188745 + ESO-682 COSM1261893 c.125G>A p.R42H Substitution - Missense 12:41506511-41506511 + T3225 COSM4713531 c.1922G>A p.R641Q Substitution - Missense 12:41573475-41573475 + YURAY COSM5375107 c.1503C>T p.S501S Substitution - coding silent 12:41573056-41573056 + B98 COSM1746963 c.687G>T p.E229D Substitution - Missense 12:41563643-41563643 + AA1934 COSM1581452 c.2815C>T p.R939C Substitution - Missense 12:41573594-41573594 + TCGA-ER-A19G-06 COSM3460636 c.3079C>T p.H1027Y Substitution - Missense 12:41573858-41573858 + TCGA-EE-A20F-06 COSM3460604 c.1648G>A p.E550K Substitution - Missense 12:41573201-41573201 + HCC017T COSM5815023 c.57T>A p.Y19* Substitution - Nonsense 12:41438001-41438001 + TCGA-B5-A11E-01 COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + PACA115 COSM1157970 c.368A>G p.D123G Substitution - Missense 12:41509852-41509852 + 2497767 COSM5750028 c.955C>A p.P319T Substitution - Missense 12:41506567-41506567 + 49M COSM3460624 c.2805G>A p.M935I Substitution - Missense 12:41573584-41573584 + CHC1629T COSM4791743 c.307C>A p.P103T Substitution - Missense 12:41506693-41506693 + 477 COSM4438643 c.794G>T p.G265V Substitution - Missense 12:41194139-41194139 + TCGA-EE-A2MT-06 COSM3460612 c.2703C>T p.I901I Substitution - coding silent 12:41573482-41573482 + CSCC-52-T COSM4539786 c.1962G>A p.K654K Substitution - coding silent 12:41573515-41573515 + CHC218T COSM4801081 c.475G>T p.G159* Substitution - Nonsense 12:41188930-41188930 + TCGA-G3-A6UC-01 COSM4929863 c.587T>A p.L196* Substitution - Nonsense 12:41555756-41555756 + YUKLAB COSM1705424 c.289_290CC>TT p.P97L Substitution - Missense 12:41506675-41506676 + PD4132a COSM163403 c.1323C>G p.I441M Substitution - Missense 12:41572876-41572876 + HCC3T COSM939202 c.2104C>T p.R702C Substitution - Missense 12:41573657-41573657 + QGP1 COSM2066492 c.3071C>T p.T1024M Substitution - Missense 12:41573850-41573850 + AD35 COSM5966450 c.1247G>A p.R416K Substitution - Missense 12:41572800-41572800 + TCGA-BS-A0UV-01 COSM939186 c.2417G>T p.S806I Substitution - Missense 12:41573196-41573196 + TCGA-HU-A4GN-01 COSM4041725 c.1551A>C p.E517D Substitution - Missense 12:41567866-41567866 + TCGA-AD-6901-01 COSM1361497 c.1210G>C p.E404Q Substitution - Missense 12:41552662-41552662 + CSCC-31-T COSM4541334 c.2988G>A p.M996I Substitution - Missense 12:41573767-41573767 + 3844_T COSM3954727 c.2172C>T p.I724I Substitution - coding silent 12:41572951-41572951 + C0010T COSM4152812 c.469G>A p.G157S Substitution - Missense 12:41552695-41552695 + BN28T COSM1606074 c.70-9T>A p.? Unknown 12:41506447-41506447 + CHC892T COSM4793816 c.1810G>A p.E604K Substitution - Missense 12:41572589-41572589 + TCGA-BR-6452-01 COSM4041723 c.713A>G p.E238G Substitution - Missense 12:41567802-41567802 + AA1934 COSM110358 c.2041C>T p.R681C Substitution - Missense 12:41573594-41573594 + TCGA-BR-8680-01 COSM4041744 c.2101C>T p.R701C Substitution - Missense 12:41573654-41573654 + CSCC-29-T COSM4535755 c.2229G>A p.E743E Substitution - coding silent 12:41573008-41573008 + TCGA-FS-A1Z0-06 COSM3460624 c.2805G>A p.M935I Substitution - Missense 12:41573584-41573584 + LP6005500-DNA_C01 COSM5952346 c.2750A>G p.K917R Substitution - Missense 12:41573529-41573529 + S02360 COSM5695980 c.1140delA p.N381fs*35 Deletion - Frameshift 12:41572693-41572693 + TCGA-BS-A0TC-01 COSM939166 c.1129G>T p.E377* Substitution - Nonsense 12:41509839-41509839 + TCGA-BR-8081-01 COSM4041730 c.1487G>A p.R496H Substitution - Missense 12:41573040-41573040 + S02248 COSM5679435 c.1781G>A p.S594N Substitution - Missense 12:41573334-41573334 + TCGA-AP-A059-01 COSM939195 c.1914C>T p.D638D Substitution - coding silent 12:41573467-41573467 + PD10010a COSM283949 c.914G>A p.R305Q Substitution - Missense 12:41572467-41572467 + Pa34X COSM84151 c.58G>A p.E20K Substitution - Missense 12:41438002-41438002 + TCGA-FW-A3R5-06 COSM3871576 c.2229G>A p.K743K Substitution - coding silent 12:41573782-41573782 + sysucc-1317T COSM5448476 c.2657A>G p.K886R Substitution - Missense 12:41573436-41573436 + HCC2998 COSM176609 c.2120G>A p.R707Q Substitution - Missense 12:41573673-41573673 + ESO-732 COSM1261896 c.1421A>C p.D474A Substitution - Missense 12:41572974-41572974 + TCGA-EE-A2GD-06 COSM3460628 c.2061G>A p.E687E Substitution - coding silent 12:41573614-41573614 + PD6721a COSM237946 c.2370G>A p.S790S Substitution - coding silent 12:41573149-41573149 + PD13167a COSM4147021 c.346G>C p.G116R Substitution - Missense 12:41188801-41188801 + TCGA-63-5128-01 COSM693161 c.196G>T p.A66S Substitution - Missense 12:41506582-41506582 + ATL035 COSM3384340 c.1990C>T p.R664W Substitution - Missense 12:41573543-41573543 + TCGA-AX-A0J0-01 COSM939149 c.659A>G p.H220R Substitution - Missense 12:41191468-41191468 + TCGA-EI-6917-01 COSM939163 c.247G>A p.E83K Substitution - Missense 12:41506633-41506633 + AOCS-131-1-3 COSM4150078 c.2108A>G p.E703G Substitution - Missense 12:41573661-41573661 + CSCC-6-T COSM4533097 c.1946G>A p.S649N Substitution - Missense 12:41572725-41572725 + CN-AML-08-T COSM5425666 c.825T>C p.I275I Substitution - coding silent 12:41194170-41194170 + TCGA-B5-A11E-01 COSM939162 c.1021G>A p.E341K Substitution - Missense 12:41506633-41506633 + TCGA-AP-A0LM-01 COSM939193 c.1911C>T p.S637S Substitution - coding silent 12:41573464-41573464 + TCGA-GF-A6C9-06 COSM3460567 c.577G>A p.D193N Substitution - Missense 12:41555746-41555746 + SJRHB013_D COSM3737463 c.1749G>A p.K583K Substitution - coding silent 12:41572528-41572528 + 61 COSM5739613 c.232C>T p.R78* Substitution - Nonsense 12:41188687-41188687 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.380030;Hs.380044 12q12 609730

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AA IntronicInsertion . c.843+97686_843+97687dupAA 12 41685675 CM AC - IntronicDeletion . c.1365+3445_1365+3446delAC 12 41952987 CM A C Missense p.D732A c.2195A>C 12 41966776 ESCA A C Missense p.K221T c.662A>C 12 41585273 STAD A C Missense p.K796T c.2387A>C 12 41966968 STAD A C Missense p.Q411H c.1233A>C 12 41946487 STAD A G IntronicSNV . c.1366-197A>G 12 41957153 CLL A G IntronicSNV . c.843+154580A>G 12 41742570 PIA A G IntronicSNV . c.843+81658A>G 12 41669648 CLL A G IntronicSNV . c.844-144795A>G 12 41755463 CLL A G Missense p.E550G c.1649A>G 12 41966230 ESCA A G Missense p.I617V c.1849A>G 12 41966430 CM A G Missense p.M932V c.2794A>G 12 41967375 LUAD A G Missense p.Y321C c.962A>G 12 41900376 UCEC A G Missense p.Y384C c.1151A>G 12 41903663 HNSC A T Missense p.E383V c.1148A>T 12 41903660 ESCA A T Missense p.E604V c.1811A>T 12 41966392 RCCC A T Missense p.I901F c.2701A>T 12 41967282 SCLC A T Missense p.K1002N c.3006A>T 12 41967587 CM A T Missense p.K815M c.2444A>T 12 41967025 LUAD A T Missense p.K993N c.2979A>T 12 41967560 ESCA A T Missense p.M776L c.2326A>T 12 41966907 CM A T Missense p.R946S c.2838A>T 12 41967419 ESCA A T Missense p.Y829F c.2486A>T 12 41967067 STAD C A IntronicSNV . c.844-99453C>A 12 41800805 CLL C A Missense p.A573E c.1718C>A 12 41966299 THCA C A Missense p.L760I c.2278C>A 12 41966859 NB C A Missense p.P486Q c.1457C>A 12 41957441 ESCA C A Missense p.R939S c.2815C>A 12 41967396 LUAD C A Missense p.S433R c.1299C>A 12 41946553 LUSC C A Missense p.S755Y c.2264C>A 12 41966845 HNSC C A Missense p.S861Y c.2582C>A 12 41967163 BRCA C A Missense p.T1015N c.3044C>A 12 41967625 ESCA C A Missense p.T395K c.1184C>A 12 41903696 LUAD C A Missense p.T767N c.2300C>A 12 41966881 LUSC C A Nonsense p.Y420* c.1260C>A 12 41946514 SCLC C A Synonymous p.G415G c.1245C>A 12 41946499 OV C A Synonymous p.G924G c.2772C>A 12 41967353 ESCA C G IntronicSNV . c.844-78797C>G 12 41821461 CLL C G Missense p.I699M c.2097C>G 12 41966678 BRCA C G Missense p.I910M c.2730C>G 12 41967311 CM C G Missense p.L414V c.1240C>G 12 41946494 LUAD C G Missense p.R754G c.2260C>G 12 41966841 LUSC C G Missense p.R899G c.2695C>G 12 41967276 LUAD C G Missense p.S782C c.2345C>G 12 41966926 HNSC C G Missense p.T926S c.2777C>G 12 41967358 LUSC C G Synonymous p.G981G c.2943C>G 12 41967524 UCEC C G Synonymous p.V863V c.2589C>G 12 41967170 ESCA C T Missense p.A686V c.2057C>T 12 41966638 UCEC C T Missense p.H1027Y c.3079C>T 12 41967660 CM C T Missense p.H276Y c.826C>T 12 41587973 CM C T Missense p.P361L c.1082C>T 12 41900496 CM C T Missense p.P728S c.2182C>T 12 41966763 CM C T Missense p.P832S c.2494C>T 12 41967075 LUSC C T Missense p.R300C c.898C>T 12 41900312 STAD C T Missense p.R350C c.1048C>T 12 41900462 STAD C T Missense p.R557C c.1669C>T 12 41966250 BRCA C T Missense p.R939C c.2815C>T 12 41967396 HNSC C T Missense p.S252L c.755C>T 12 41587902 BLCA C T Missense p.T1035I c.3104C>T 12 41967685 UCEC C T Missense p.T701I c.2102C>T 12 41966683 SCLC C T Nonsense p.R313* c.937C>T 12 41900351 ESCA C T Nonsense p.R563* c.1687C>T 12 41966268 STAD C T Nonsense p.R638* c.1912C>T 12 41966493 ALL C T Nonsense p.R907* c.2719C>T 12 41967300 STAD C T Nonsense p.R965* c.2893C>T 12 41967474 STAD C T Synonymous p.D540D c.1620C>T 12 41966201 LUAD C T Synonymous p.D644D c.1932C>T 12 41966513 LUSC C T Synonymous p.D928D c.2784C>T 12 41967365 GBM C T Synonymous p.H846H c.2538C>T 12 41967119 BRCA C T Synonymous p.I901I c.2703C>T 12 41967284 CM C T Synonymous p.I918I c.2754C>T 12 41967335 CM C T Synonymous p.L689L c.2067C>T 12 41966648 CM C T Synonymous p.N473N c.1419C>T 12 41957403 COREAD C T Synonymous p.N548N c.1644C>T 12 41966225 CM C T Synonymous p.N765N c.2295C>T 12 41966876 CM C T Synonymous p.P577P c.1731C>T 12 41966312 CM C T Synonymous p.S942S c.2826C>T 12 41967407 BLCA C T Synonymous p.Y647Y c.1941C>T 12 41966522 BRCA G A 3-UTRSNV . c.3108+6G>A 12 41967695 CM G A IntronicSNV . c.844-68454G>A 12 41831804 PAAD G A IntronicSNV . c.844-68480G>A 12 41831778 CM G A Missense p.D337N c.1009G>A 12 41900423 CM G A Missense p.D451N c.1351G>A 12 41949548 CM G A Missense p.E459K c.1375G>A 12 41957359 CM G A Missense p.E599K c.1795G>A 12 41966376 BRCA G A Missense p.E663K c.1987G>A 12 41966568 BRCA G A Missense p.E671K c.2011G>A 12 41966592 CM G A Missense p.E677K c.2029G>A 12 41966610 HNSC G A Missense p.E743K c.2227G>A 12 41966808 COREAD G A Missense p.E825K c.2473G>A 12 41967054 STAD G A Missense p.E888K c.2662G>A 12 41967243 CM G A Missense p.E969K c.2905G>A 12 41967486 BLCA G A Missense p.E989K c.2965G>A 12 41967546 CM G A Missense p.G250E c.749G>A 12 41587896 LUAD G A Missense p.G255E c.764G>A 12 41587911 CM G A Missense p.G265E c.794G>A 12 41587941 LUSC G A Missense p.G589E c.1766G>A 12 41966347 CM G A Missense p.G784R c.2350G>A 12 41966931 COREAD G A Missense p.M887I c.2661G>A 12 41967242 CM G A Missense p.M935I c.2805G>A 12 41967386 CM G A Missense p.R421Q c.1262G>A 12 41946516 BRCA G A Missense p.R563Q c.1688G>A 12 41966269 CM G A Missense p.R922Q c.2765G>A 12 41967346 CM G A Missense p.R939H c.2816G>A 12 41967397 COREAD G A Missense p.R957H c.2870G>A 12 41967451 LUAD G A Missense p.R960H c.2879G>A 12 41967460 GBM G A Missense p.R965Q c.2894G>A 12 41967475 HNSC G A Missense p.R965Q c.2894G>A 12 41967475 LUAD G A Missense p.R965Q c.2894G>A 12 41967475 STAD G A Missense p.S650N c.1949G>A 12 41966530 PRAD G A Synonymous p.E945E c.2835G>A 12 41967416 CM G A Synonymous p.G284G c.852G>A 12 41900266 CM G A Synonymous p.K733K c.2199G>A 12 41966780 CM G A Synonymous p.K890K c.2670G>A 12 41967251 STAD G A Synonymous p.R499R c.1497G>A 12 41961614 HNSC G C IntronicSNV . c.843+47278G>C 12 41635268 CLL G C Missense p.D613H c.1837G>C 12 41966418 LUSC G C Missense p.E459Q c.1375G>C 12 41957359 STAD G C Missense p.E663Q c.1987G>C 12 41966568 LUSC G C Missense p.E743Q c.2227G>C 12 41966808 BLCA G C Missense p.G458A c.1373G>C 12 41957357 LUAD G - Frameshift p.D1005Tfs*4 c.3013delG 12 41967593 LUSC - GTATATATATATATA IntronicInsertion . c.843+68774_843+68775insGTATATATATATATA 12 41656764 CLL G T IntronicSNV . c.844-68461G>T 12 41831797 ESCA G T Missense p.A320S c.958G>T 12 41900372 UCEC G T Missense p.A324S c.970G>T 12 41900384 LUSC G T Missense p.A915S c.2743G>T 12 41967324 LUAD G T Missense p.C654F c.1961G>T 12 41966542 STAD G T Missense p.D423Y c.1267G>T 12 41946521 ESCA G T Missense p.E509D c.1527G>T 12 41961644 COREAD G T Missense p.E820D c.2460G>T 12 41967041 LUAD G T Missense p.K636N c.1908G>T 12 41966489 OV G T Missense p.R839I c.2516G>T 12 41967097 THCA G T Nonsense p.E377* c.1129G>T 12 41903641 UCEC G T Nonsense p.E726* c.2176G>T 12 41966757 LUAD G T Nonsense p.E805* c.2413G>T 12 41966994 HNSC G T Nonsense p.E945* c.2833G>T 12 41967414 CM T A Missense p.N655K c.1965T>A 12 41966546 BRCA T A Synonymous p.P315P c.945T>A 12 41900359 STAD T C IntronicSNV . c.1204-16367T>C 12 41930091 PIA T C IntronicSNV . c.843+43646T>C 12 41631636 PIA T C IntronicSNV . c.844-32804T>C 12 41867454 CLL T C IntronicSNV . c.844-68640T>C 12 41831618 HC T C Missense p.I617T c.1850T>C 12 41966431 THCA T C Missense p.I988T c.2963T>C 12 41967544 NSCLC T C Missense p.V526A c.1577T>C 12 41961694 COREAD T C Missense p.Y602H c.1804T>C 12 41966385 HNSC T C Synonymous p.C882C c.2646T>C 12 41967227 COREAD T G Missense p.L600R c.1799T>G 12 41966380 STAD