Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 27765408 27765408 + Silent SNP G G A TCGA-OR-A5JK-01A-11D-A29I-10 TCGA-OR-A5JK-10A-01D-A29L-10 g.chrX:27765408G>A c.396G>A c.(394-396)gaG>gaA p.E132E ACC 23 27765447 27765447 + Silent SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chrX:27765447A>G c.435A>G c.(433-435)gaA>gaG p.E145E ACC 23 27765556 27765556 + Missense_Mutation SNP C C A TCGA-OR-A5K2-01A-11D-A29I-10 TCGA-OR-A5K2-10B-01D-A29L-10 g.chrX:27765556C>A c.544C>A c.(544-546)Ctg>Atg p.L182M BLCA 23 27766060 27766060 + Missense_Mutation SNP C C G TCGA-4Z-AA83-01A-11D-A391-08 TCGA-4Z-AA83-10A-01D-A394-08 g.chrX:27766060C>G c.1048C>G c.(1048-1050)Caa>Gaa p.Q350E BLCA 23 27766328 27766328 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chrX:27766328C>G c.1316C>G c.(1315-1317)gCc>gGc p.A439G BLCA 23 27766599 27766599 + Silent SNP G G A TCGA-K4-A4AC-01A-21D-A26M-08 TCGA-K4-A4AC-10A-01D-A26K-08 g.chrX:27766599G>A c.1587G>A c.(1585-1587)gcG>gcA p.A529A BLCA 23 27766626 27766626 + Silent SNP G G A TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chrX:27766626G>A c.1614G>A c.(1612-1614)aaG>aaA p.K538K BLCA 23 27766666 27766666 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chrX:27766666G>A c.1654G>A c.(1654-1656)Ggg>Agg p.G552R BLCA 23 27766831 27766831 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chrX:27766831G>A c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K BRCA 23 27765025 27765025 + Missense_Mutation SNP G G A TCGA-BH-A0H0-01A-11W-A071-09 TCGA-BH-A0H0-10A-01W-A071-09 g.chrX:27765025G>A c.13G>A c.(13-15)Gaa>Aaa p.E5K BRCA 23 27765411 27765411 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 g.chrX:27765411G>A c.399G>A c.(397-399)gaG>gaA p.E133E BRCA 23 27765438 27765438 + Silent SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 g.chrX:27765438G>A c.426G>A c.(424-426)gaG>gaA p.E142E BRCA 23 27765579 27765579 + Silent SNP C C T TCGA-BH-A0E1-01A-11W-A071-09 TCGA-BH-A0E1-11A-13W-A100-09 g.chrX:27765579C>T c.567C>T c.(565-567)gtC>gtT p.V189V BRCA 23 27765792 27765792 + Silent SNP G G A TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 g.chrX:27765792G>A c.780G>A c.(778-780)caG>caA p.Q260Q BRCA 23 27765804 27765804 + Silent SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chrX:27765804G>A c.792G>A c.(790-792)ctG>ctA p.L264L BRCA 23 27766112 27766112 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chrX:27766112T>G c.1100T>G c.(1099-1101)gTg>gGg p.V367G CESC 23 27765143 27765143 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chrX:27765143C>T c.131C>T c.(130-132)tCa>tTa p.S44L CESC 23 27765223 27765223 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chrX:27765223C>T c.211C>T c.(211-213)Cga>Tga p.R71* CESC 23 27765662 27765662 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chrX:27765662G>A c.650G>A c.(649-651)cGt>cAt p.R217H CESC 23 27765682 27765682 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chrX:27765682C>T c.670C>T c.(670-672)Ctt>Ttt p.L224F CESC 23 27766066 27766066 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 g.chrX:27766066C>T c.1054C>T c.(1054-1056)Cgg>Tgg p.R352W CESC 23 27766524 27766524 + Silent SNP C C A TCGA-C5-A0TN-01A-21D-A14W-08 TCGA-C5-A0TN-10B-01D-A14W-08 g.chrX:27766524C>A c.1512C>A c.(1510-1512)atC>atA p.I504I CESC 23 27766674 27766674 + Silent SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chrX:27766674G>A c.1662G>A c.(1660-1662)aaG>aaA p.K554K CESC 23 27766685 27766685 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:27766685A>C c.1673A>C c.(1672-1674)aAg>aCg p.K558T CHOL 23 27765742 27765742 + Missense_Mutation SNP G G T TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chrX:27765742G>T c.730G>T c.(730-732)Gcc>Tcc p.A244S COAD 23 27765447 27765447 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:27765447A>G c.435A>G c.(433-435)gaA>gaG p.E145E COAD 23 27765563 27765563 + Missense_Mutation SNP G G A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:27765563G>A c.551G>A c.(550-552)cGa>cAa p.R184Q COAD 23 27765750 27765750 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chrX:27765750C>T c.738C>T c.(736-738)agC>agT p.S246S COAD 23 27765898 27765898 + Missense_Mutation SNP C C A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chrX:27765898C>A c.886C>A c.(886-888)Cag>Aag p.Q296K COAD 23 27766231 27766231 + Missense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:27766231G>A c.1219G>A c.(1219-1221)Gtg>Atg p.V407M COAD 23 27766245 27766245 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:27766245C>A c.1233C>A c.(1231-1233)ttC>ttA p.F411L COAD 23 27766393 27766393 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:27766393A>G c.1381A>G c.(1381-1383)Aag>Gag p.K461E COADREAD 23 27765438 27765438 + Silent SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:27765438G>A c.426G>A c.(424-426)gaG>gaA p.E142E COADREAD 23 27765447 27765447 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:27765447A>G c.435A>G c.(433-435)gaA>gaG p.E145E COADREAD 23 27765530 27765530 + Missense_Mutation SNP A A G TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chrX:27765530A>G c.518A>G c.(517-519)gAg>gGg p.E173G COADREAD 23 27765563 27765563 + Missense_Mutation SNP G G A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:27765563G>A c.551G>A c.(550-552)cGa>cAa p.R184Q COADREAD 23 27765750 27765750 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chrX:27765750C>T c.738C>T c.(736-738)agC>agT p.S246S COADREAD 23 27765898 27765898 + Missense_Mutation SNP C C A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chrX:27765898C>A c.886C>A c.(886-888)Cag>Aag p.Q296K COADREAD 23 27766231 27766231 + Missense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chrX:27766231G>A c.1219G>A c.(1219-1221)Gtg>Atg p.V407M COADREAD 23 27766245 27766245 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:27766245C>A c.1233C>A c.(1231-1233)ttC>ttA p.F411L COADREAD 23 27766393 27766393 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:27766393A>G c.1381A>G c.(1381-1383)Aag>Gag p.K461E DLBC 23 27765405 27765405 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:27765405G>A c.393G>A c.(391-393)gaG>gaA p.E131E DLBC 23 27766417 27766417 + Missense_Mutation SNP A A G TCGA-GS-A9TV-01A-11D-A382-10 TCGA-GS-A9TV-10A-01D-A385-10 g.chrX:27766417A>G c.1405A>G c.(1405-1407)Aat>Gat p.N469D DLBC 23 27766474 27766474 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:27766474G>A c.1462G>A c.(1462-1464)Ggt>Agt p.G488S ESCA 23 27765039 27765039 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chrX:27765039C>T c.27C>T c.(25-27)gaC>gaT p.D9D ESCA 23 27765402 27765402 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chrX:27765402G>A c.390G>A c.(388-390)gaG>gaA p.E130E ESCA 23 27766027 27766027 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chrX:27766027G>A c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K ESCA 23 27766867 27766867 + Nonsense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chrX:27766867G>T c.1855G>T c.(1855-1857)Gag>Tag p.E619* GBM 23 27765562 27765562 + Nonsense_Mutation SNP C C T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 g.chrX:27765562C>T c.550C>T c.(550-552)Cga>Tga p.R184* GBM 23 27765650 27765650 + Missense_Mutation SNP C C A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 g.chrX:27765650C>A c.638C>A c.(637-639)gCc>gAc p.A213D GBM 23 27766165 27766165 + Missense_Mutation SNP G G T TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chrX:27766165G>T c.1153G>T c.(1153-1155)Ggt>Tgt p.G385C GBMLGG 23 27765562 27765562 + Nonsense_Mutation SNP C C T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 g.chrX:27765562C>T c.550C>T c.(550-552)Cga>Tga p.R184* GBMLGG 23 27765650 27765650 + Missense_Mutation SNP C C A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 g.chrX:27765650C>A c.638C>A c.(637-639)gCc>gAc p.A213D GBMLGG 23 27765735 27765735 + Silent SNP C C G TCGA-QH-A6XC-01A-12D-A32B-08 TCGA-QH-A6XC-10B-01D-A329-08 g.chrX:27765735C>G c.723C>G c.(721-723)acC>acG p.T241T GBMLGG 23 27766165 27766165 + Missense_Mutation SNP G G T TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chrX:27766165G>T c.1153G>T c.(1153-1155)Ggt>Tgt p.G385C HNSC 23 27765882 27765882 + Missense_Mutation SNP G G T TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chrX:27765882G>T c.870G>T c.(868-870)atG>atT p.M290I HNSC 23 27766113 27766113 + Silent SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chrX:27766113G>T c.1101G>T c.(1099-1101)gtG>gtT p.V367V HNSC 23 27766219 27766219 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:27766219G>A c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K HNSC 23 27766662 27766662 + Silent SNP T T C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 g.chrX:27766662T>C c.1650T>C c.(1648-1650)ctT>ctC p.L550L HNSC 23 27766738 27766738 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chrX:27766738G>T c.1726G>T c.(1726-1728)Gac>Tac p.D576Y HNSC 23 27766814 27766814 + Missense_Mutation SNP C C G TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chrX:27766814C>G c.1802C>G c.(1801-1803)gCt>gGt p.A601G HNSC 23 27766844 27766844 + Missense_Mutation SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:27766844C>G c.1832C>G c.(1831-1833)tCt>tGt p.S611C KICH 23 27765387 27765407 + In_Frame_Del DEL GGAGGAGGAGGAAGAGGAGGA GGAGGAGGAGGAAGAGGAGGA - TCGA-KL-8336-01A-11D-2310-10 TCGA-KL-8336-11A-01D-2310-10 g.chrX:27765387_27765407delGGAGGAGGAGGAAGAGGAGGA c.375_395delGGAGGAGGAGGAAGAGGAGGA c.(373-396)ggggaggaggaggaagaggaggag>ggg p.EEEEEEE140del KICH 23 27765417 27765417 + Silent SNP G G A TCGA-KO-8416-01A-11D-2310-10 TCGA-KO-8416-11A-01D-2311-10 g.chrX:27765417G>A c.405G>A c.(403-405)gaG>gaA p.E135E KIPAN 23 27765387 27765407 + In_Frame_Del DEL GGAGGAGGAGGAAGAGGAGGA GGAGGAGGAGGAAGAGGAGGA - TCGA-KL-8336-01A-11D-2310-10 TCGA-KL-8336-11A-01D-2310-10 g.chrX:27765387_27765407delGGAGGAGGAGGAAGAGGAGGA c.375_395delGGAGGAGGAGGAAGAGGAGGA c.(373-396)ggggaggaggaggaagaggaggag>ggg p.EEEEEEE140del KIPAN 23 27765417 27765417 + Silent SNP G G A TCGA-KO-8416-01A-11D-2310-10 TCGA-KO-8416-11A-01D-2311-10 g.chrX:27765417G>A c.405G>A c.(403-405)gaG>gaA p.E135E KIPAN 23 27765420 27765421 + In_Frame_Ins INS - - ATACAA TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chrX:27765420_27765421insATACAA c.408_409insATACAA c.(409-411)gag>ATACAAgag p.136_137insIQ KIPAN 23 27765728 27765728 + Missense_Mutation SNP G G A TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chrX:27765728G>A c.716G>A c.(715-717)cGt>cAt p.R239H KIPAN 23 27766433 27766433 + Missense_Mutation SNP G G T TCGA-B0-5085-01A-01D-1462-08 TCGA-B0-5085-11A-01D-1462-08 g.chrX:27766433G>T c.1421G>T c.(1420-1422)gGt>gTt p.G474V KIPAN 23 27766775 27766775 + Missense_Mutation SNP C C T TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chrX:27766775C>T c.1763C>T c.(1762-1764)aCg>aTg p.T588M KIRC 23 27765420 27765421 + In_Frame_Ins INS - - ATACAA TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chrX:27765420_27765421insATACAA c.408_409insATACAA c.(409-411)gag>ATACAAgag p.136_137insIQ KIRC 23 27766433 27766433 + Missense_Mutation SNP G G T TCGA-B0-5085-01A-01D-1462-08 TCGA-B0-5085-11A-01D-1462-08 g.chrX:27766433G>T c.1421G>T c.(1420-1422)gGt>gTt p.G474V KIRC 23 27766775 27766775 + Missense_Mutation SNP C C T TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chrX:27766775C>T c.1763C>T c.(1762-1764)aCg>aTg p.T588M KIRP 23 27765728 27765728 + Missense_Mutation SNP G G A TCGA-2Z-A9JG-01A-11D-A42J-10 TCGA-2Z-A9JG-10A-01D-A42M-10 g.chrX:27765728G>A c.716G>A c.(715-717)cGt>cAt p.R239H LGG 23 27765735 27765735 + Silent SNP C C G TCGA-QH-A6XC-01A-12D-A32B-08 TCGA-QH-A6XC-10B-01D-A329-08 g.chrX:27765735C>G c.723C>G c.(721-723)acC>acG p.T241T LIHC 23 27765399 27765399 + Silent SNP A A G TCGA-DD-A4NA-01A-11D-A25V-10 TCGA-DD-A4NA-11A-11D-A25V-10 g.chrX:27765399A>G c.387A>G c.(385-387)gaA>gaG p.E129E LIHC 23 27765399 27765399 + Silent SNP A A G TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chrX:27765399A>G c.387A>G c.(385-387)gaA>gaG p.E129E LIHC 23 27765410 27765410 + Frame_Shift_Del DEL A A - TCGA-WJ-A86L-01A-12D-A45V-10 TCGA-WJ-A86L-10A-01D-A38X-10 g.chrX:27765410delA c.398delA c.(397-399)gagfs p.E147fs LIHC 23 27765411 27765411 + Silent SNP G G A TCGA-DD-A39V-01A-11D-A20W-10 TCGA-DD-A39V-11A-11D-A20W-10 g.chrX:27765411G>A c.399G>A c.(397-399)gaG>gaA p.E133E LIHC 23 27765414 27765414 + Silent SNP G G A TCGA-DD-A4NN-01A-11D-A28X-10 TCGA-DD-A4NN-10A-01D-A28X-10 g.chrX:27765414G>A c.402G>A c.(400-402)gaG>gaA p.E134E LIHC 23 27765423 27765423 + Silent SNP G G A TCGA-WJ-A86L-01A-12D-A45V-10 TCGA-WJ-A86L-10A-01D-A38X-10 g.chrX:27765423G>A c.411G>A c.(409-411)gaG>gaA p.E137E LIHC 23 27765469 27765469 + Missense_Mutation SNP C C T TCGA-FV-A3I0-01A-11D-A22F-10 TCGA-FV-A3I0-11A-11D-A22F-10 g.chrX:27765469C>T c.457C>T c.(457-459)Cca>Tca p.P153S LIHC 23 27765564 27765564 + Silent SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chrX:27765564A>G c.552A>G c.(550-552)cgA>cgG p.R184R LIHC 23 27766594 27766594 + Silent SNP T T C TCGA-DD-AADY-01A-11D-A40R-10 TCGA-DD-AADY-10A-01D-A40U-10 g.chrX:27766594T>C c.1582T>C c.(1582-1584)Ttg>Ctg p.L528L LUAD 23 27765055 27765055 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chrX:27765055G>A c.43G>A c.(43-45)Ggg>Agg p.G15R LUAD 23 27765086 27765086 + Missense_Mutation SNP A A T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 g.chrX:27765086A>T c.74A>T c.(73-75)gAg>gTg p.E25V LUAD 23 27765098 27765098 + Missense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chrX:27765098C>A c.86C>A c.(85-87)gCc>gAc p.A29D LUAD 23 27765719 27765719 + Missense_Mutation SNP T T A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 g.chrX:27765719T>A c.707T>A c.(706-708)tTt>tAt p.F236Y LUAD 23 27765740 27765740 + Missense_Mutation SNP T T A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chrX:27765740T>A c.728T>A c.(727-729)cTg>cAg p.L243Q LUAD 23 27765783 27765783 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chrX:27765783G>C c.771G>C c.(769-771)tgG>tgC p.W257C LUAD 23 27765838 27765838 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chrX:27765838C>A c.826C>A c.(826-828)Cag>Aag p.Q276K LUAD 23 27766004 27766004 + Missense_Mutation SNP C C T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chrX:27766004C>T c.992C>T c.(991-993)cCt>cTt p.P331L LUAD 23 27766034 27766034 + Missense_Mutation SNP C C A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chrX:27766034C>A c.1022C>A c.(1021-1023)gCt>gAt p.A341D LUAD 23 27766045 27766045 + Missense_Mutation SNP A A G TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chrX:27766045A>G c.1033A>G c.(1033-1035)Acc>Gcc p.T345A LUAD 23 27766141 27766141 + Missense_Mutation SNP G G T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chrX:27766141G>T c.1129G>T c.(1129-1131)Gcc>Tcc p.A377S LUAD 23 27766166 27766166 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chrX:27766166G>T c.1154G>T c.(1153-1155)gGt>gTt p.G385V LUAD 23 27766228 27766228 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:27766228G>T c.1216G>T c.(1216-1218)Ggc>Tgc p.G406C LUAD 23 27766229 27766229 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:27766229G>T c.1217G>T c.(1216-1218)gGc>gTc p.G406V LUAD 23 27766230 27766230 + Silent SNP C C G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chrX:27766230C>G c.1218C>G c.(1216-1218)ggC>ggG p.G406G LUAD 23 27766390 27766390 + Missense_Mutation SNP A A G TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chrX:27766390A>G c.1378A>G c.(1378-1380)Agt>Ggt p.S460G LUAD 23 27766465 27766465 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chrX:27766465G>T c.1453G>T c.(1453-1455)Gta>Tta p.V485L LUAD 23 27766501 27766501 + Missense_Mutation SNP T T A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chrX:27766501T>A c.1489T>A c.(1489-1491)Tgg>Agg p.W497R LUAD 23 27766653 27766653 + Silent SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chrX:27766653C>A c.1641C>A c.(1639-1641)gcC>gcA p.A547A LUAD 23 27766660 27766660 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chrX:27766660C>A c.1648C>A c.(1648-1650)Ctt>Att p.L550I LUAD 23 27766805 27766805 + Missense_Mutation SNP G G A TCGA-55-8615-01A-11D-2393-08 TCGA-55-8615-10A-01D-2393-08 g.chrX:27766805G>A c.1793G>A c.(1792-1794)aGt>aAt p.S598N PAAD 23 27766129 27766129 + Missense_Mutation SNP A A G TCGA-FB-AAQ3-01A-11D-A40W-08 TCGA-FB-AAQ3-11A-11D-A40W-08 g.chrX:27766129A>G c.1117A>G c.(1117-1119)Act>Gct p.T373A PCPG 23 27765849 27765849 + Frame_Shift_Del DEL C C - TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 g.chrX:27765849delC c.837delC c.(835-837)ttcfs p.F279fs PRAD 23 27766321 27766321 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 g.chrX:27766321C>A c.1309C>A c.(1309-1311)Ctg>Atg p.L437M READ 23 27765438 27765438 + Silent SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:27765438G>A c.426G>A c.(424-426)gaG>gaA p.E142E READ 23 27765530 27765530 + Missense_Mutation SNP A A G TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chrX:27765530A>G c.518A>G c.(517-519)gAg>gGg p.E173G SARC 23 27765205 27765205 + Missense_Mutation SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 g.chrX:27765205G>A c.193G>A c.(193-195)Gat>Aat p.D65N SARC 23 27765399 27765399 + Silent SNP A A G TCGA-DX-A48V-01A-11D-A307-09 TCGA-DX-A48V-10A-01D-A307-09 g.chrX:27765399A>G c.387A>G c.(385-387)gaA>gaG p.E129E SARC 23 27765400 27765408 + In_Frame_Del DEL GAGGAGGAG GAGGAGGAG - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 g.chrX:27765400_27765408delGAGGAGGAG c.388_396delGAGGAGGAG c.(388-396)gaggaggagdel p.EEE145del SARC 23 27765613 27765613 + Missense_Mutation SNP C C A TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 g.chrX:27765613C>A c.601C>A c.(601-603)Cgt>Agt p.R201S SARC 23 27765824 27765824 + Missense_Mutation SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 g.chrX:27765824C>A c.812C>A c.(811-813)aCa>aAa p.T271K SARC 23 27766187 27766187 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chrX:27766187G>A c.1175G>A c.(1174-1176)aGg>aAg p.R392K SARC 23 27766328 27766328 + Missense_Mutation SNP C C T TCGA-DX-A3UA-01A-12D-A307-09 TCGA-DX-A3UA-10A-01D-A307-09 g.chrX:27766328C>T c.1316C>T c.(1315-1317)gCc>gTc p.A439V SARC 23 27766740 27766740 + Silent SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 g.chrX:27766740C>T c.1728C>T c.(1726-1728)gaC>gaT p.D576D SKCM 23 27765058 27765058 + Missense_Mutation SNP A A G TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chrX:27765058A>G c.46A>G c.(46-48)Act>Gct p.T16A SKCM 23 27766044 27766044 + Silent SNP C C T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chrX:27766044C>T c.1032C>T c.(1030-1032)ttC>ttT p.F344F SKCM 23 27766047 27766047 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chrX:27766047C>T c.1035C>T c.(1033-1035)acC>acT p.T345T SKCM 23 27766188 27766188 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chrX:27766188G>A c.1176G>A c.(1174-1176)agG>agA p.R392R SKCM 23 27766203 27766203 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chrX:27766203G>A c.1191G>A c.(1189-1191)agG>agA p.R397R SKCM 23 27766203 27766203 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chrX:27766203G>A c.1191G>A c.(1189-1191)agG>agA p.R397R SKCM 23 27766203 27766203 + Silent SNP G G A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chrX:27766203G>A c.1191G>A c.(1189-1191)agG>agA p.R397R SKCM 23 27766245 27766245 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chrX:27766245C>T c.1233C>T c.(1231-1233)ttC>ttT p.F411F SKCM 23 27766345 27766345 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chrX:27766345G>A c.1333G>A c.(1333-1335)Gat>Aat p.D445N SKCM 23 27766345 27766345 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chrX:27766345G>A c.1333G>A c.(1333-1335)Gat>Aat p.D445N SKCM 23 27766497 27766497 + Silent SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chrX:27766497C>T c.1485C>T c.(1483-1485)ttC>ttT p.F495F SKCM 23 27766554 27766554 + Silent SNP T T C TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chrX:27766554T>C c.1542T>C c.(1540-1542)ggT>ggC p.G514G SKCM 23 27766568 27766568 + Missense_Mutation SNP T T A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:27766568T>A c.1556T>A c.(1555-1557)cTt>cAt p.L519H SKCM 23 27766574 27766574 + Missense_Mutation SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chrX:27766574C>T c.1562C>T c.(1561-1563)cCc>cTc p.P521L SKCM 23 27766703 27766703 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chrX:27766703G>A c.1691G>A c.(1690-1692)cGa>cAa p.R564Q SKCM 23 27766905 27766905 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chrX:27766905C>T c.1893C>T c.(1891-1893)tcC>tcT p.S631S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 27766328 27766328 single base substitution C G downstream_gene_variant BLCA-US X 27766328 27766328 single base substitution C G missense_variant A439G 1316C>G BOCA-FR X 27671367 27671367 single base substitution T A intron_variant BOCA-FR X 27673569 27673569 single base substitution T A intron_variant BOCA-FR X 27716312 27716312 single base substitution T G intron_variant BOCA-FR X 27752679 27752679 single base substitution G T intron_variant BOCA-FR X 27759178 27759178 single base substitution C T intron_variant BOCA-FR X 27768564 27768564 single base substitution A G downstream_gene_variant BRCA-EU X 27604071 27604071 single base substitution C A upstream_gene_variant BRCA-EU X 27605099 27605099 single base substitution T A upstream_gene_variant BRCA-EU X 27605680 27605680 single base substitution G A upstream_gene_variant BRCA-EU X 27605717 27605717 single base substitution G T upstream_gene_variant BRCA-EU X 27605965 27605965 single base substitution C G upstream_gene_variant BRCA-EU X 27606269 27606269 single base substitution C T upstream_gene_variant BRCA-EU X 27606505 27606505 single base substitution C A upstream_gene_variant BRCA-EU X 27608398 27608398 single base substitution G T upstream_gene_variant BRCA-EU X 27608708 27608708 single base substitution C T intron_variant BRCA-EU X 27610281 27610281 single base substitution C T intron_variant BRCA-EU X 27611759 27611759 single base substitution G A intron_variant BRCA-EU X 27612118 27612118 single base substitution A T intron_variant BRCA-EU X 27612372 27612372 single base substitution G T intron_variant BRCA-EU X 27612383 27612386 deletion of <=200bp CAGT - intron_variant BRCA-EU X 27612693 27612693 single base substitution T C intron_variant BRCA-EU X 27612820 27612820 single base substitution G T intron_variant BRCA-EU X 27613469 27613469 single base substitution C A intron_variant BRCA-EU X 27613653 27613653 single base substitution G T intron_variant BRCA-EU X 27614118 27614118 single base substitution C G intron_variant BRCA-EU X 27614881 27614881 single base substitution G T intron_variant BRCA-EU X 27616929 27616929 single base substitution T A intron_variant BRCA-EU X 27617259 27617259 deletion of <=200bp A - intron_variant BRCA-EU X 27617762 27617762 single base substitution C A intron_variant BRCA-EU X 27617772 27617772 single base substitution A T intron_variant BRCA-EU X 27618313 27618313 single base substitution C G intron_variant BRCA-EU X 27620064 27620064 single base substitution A T intron_variant BRCA-EU X 27620145 27620145 insertion of <=200bp - G intron_variant BRCA-EU X 27621707 27621707 single base substitution C T intron_variant BRCA-EU X 27621760 27621760 single base substitution A G intron_variant BRCA-EU X 27622346 27622346 single base substitution C T intron_variant BRCA-EU X 27623937 27623937 single base substitution C A intron_variant BRCA-EU X 27624597 27624597 single base substitution C T intron_variant BRCA-EU X 27625149 27625149 single base substitution G A intron_variant BRCA-EU X 27626780 27626780 single base substitution G A intron_variant BRCA-EU X 27626932 27626932 single base substitution C T intron_variant BRCA-EU X 27628323 27628323 single base substitution A T intron_variant BRCA-EU X 27628642 27628642 single base substitution A G intron_variant BRCA-EU X 27629362 27629362 single base substitution T C intron_variant BRCA-EU X 27629761 27629761 single base substitution C T intron_variant BRCA-EU X 27630527 27630527 single base substitution A T intron_variant BRCA-EU X 27630829 27630829 single base substitution C A intron_variant BRCA-EU X 27631277 27631277 single base substitution C G intron_variant BRCA-EU X 27631545 27631545 single base substitution T C intron_variant BRCA-EU X 27631740 27631740 single base substitution C A intron_variant BRCA-EU X 27631998 27631998 single base substitution G A intron_variant BRCA-EU X 27632799 27632799 single base substitution C A intron_variant BRCA-EU X 27632874 27632874 single base substitution G T intron_variant BRCA-EU X 27633917 27633917 single base substitution C G intron_variant BRCA-EU X 27634140 27634140 single base substitution A T intron_variant BRCA-EU X 27634256 27634256 deletion of <=200bp A - intron_variant BRCA-EU X 27634277 27634277 single base substitution C G intron_variant BRCA-EU X 27636283 27636283 single base substitution A G intron_variant BRCA-EU X 27636727 27636727 single base substitution A G intron_variant BRCA-EU X 27637965 27637965 single base substitution G A intron_variant BRCA-EU X 27638013 27638013 single base substitution A G intron_variant BRCA-EU X 27638203 27638203 single base substitution T C intron_variant BRCA-EU X 27638632 27638632 single base substitution A C intron_variant BRCA-EU X 27638877 27638877 single base substitution T C intron_variant BRCA-EU X 27639245 27639245 single base substitution G C intron_variant BRCA-EU X 27639358 27639358 single base substitution G C intron_variant BRCA-EU X 27639438 27639438 single base substitution G T intron_variant BRCA-EU X 27640386 27640386 insertion of <=200bp - A intron_variant BRCA-EU X 27640535 27640535 single base substitution C G intron_variant BRCA-EU X 27640543 27640543 deletion of <=200bp A - intron_variant BRCA-EU X 27641233 27641233 deletion of <=200bp A - intron_variant BRCA-EU X 27641368 27641368 insertion of <=200bp - A intron_variant BRCA-EU X 27641647 27641647 single base substitution A T intron_variant BRCA-EU X 27641787 27641787 single base substitution G C intron_variant BRCA-EU X 27641884 27641884 single base substitution C G intron_variant BRCA-EU X 27643177 27643177 single base substitution C A intron_variant BRCA-EU X 27643256 27643256 single base substitution A G intron_variant BRCA-EU X 27643942 27643942 insertion of <=200bp - A intron_variant BRCA-EU X 27644477 27644477 single base substitution C G intron_variant BRCA-EU X 27644558 27644558 single base substitution T G intron_variant BRCA-EU X 27646953 27646953 single base substitution C T intron_variant BRCA-EU X 27647476 27647476 single base substitution C G intron_variant BRCA-EU X 27647670 27647670 single base substitution A T intron_variant BRCA-EU X 27648607 27648607 single base substitution G A intron_variant BRCA-EU X 27648706 27648706 single base substitution C G intron_variant BRCA-EU X 27648761 27648761 single base substitution T C intron_variant BRCA-EU X 27649483 27649483 single base substitution A T intron_variant BRCA-EU X 27649639 27649639 single base substitution C T intron_variant BRCA-EU X 27650325 27650325 single base substitution G C exon_variant BRCA-EU X 27650325 27650325 single base substitution G C intron_variant BRCA-EU X 27650615 27650615 single base substitution G C exon_variant BRCA-EU X 27650615 27650615 single base substitution G C intron_variant BRCA-EU X 27650909 27650909 deletion of <=200bp T - exon_variant BRCA-EU X 27650909 27650909 deletion of <=200bp T - intron_variant BRCA-EU X 27651654 27651654 single base substitution C T exon_variant BRCA-EU X 27651654 27651654 single base substitution C T intron_variant BRCA-EU X 27651823 27651823 single base substitution T C exon_variant BRCA-EU X 27651823 27651823 single base substitution T C intron_variant BRCA-EU X 27652138 27652138 single base substitution C T downstream_gene_variant BRCA-EU X 27652138 27652138 single base substitution C T intron_variant BRCA-EU X 27652942 27652942 single base substitution G A downstream_gene_variant BRCA-EU X 27652942 27652942 single base substitution G A intron_variant BRCA-EU X 27654222 27654222 single base substitution C T downstream_gene_variant BRCA-EU X 27654222 27654222 single base substitution C T intron_variant BRCA-EU X 27654688 27654688 single base substitution G C downstream_gene_variant BRCA-EU X 27654688 27654688 single base substitution G C intron_variant BRCA-EU X 27654844 27654844 single base substitution A G downstream_gene_variant BRCA-EU X 27654844 27654844 single base substitution A G intron_variant BRCA-EU X 27655400 27655400 single base substitution A C downstream_gene_variant BRCA-EU X 27655400 27655400 single base substitution A C intron_variant BRCA-EU X 27656296 27656296 single base substitution G T downstream_gene_variant BRCA-EU X 27656296 27656296 single base substitution G T intron_variant BRCA-EU X 27658325 27658325 insertion of <=200bp - A intron_variant BRCA-EU X 27658952 27658952 single base substitution T C intron_variant BRCA-EU X 27659453 27659453 single base substitution G A intron_variant BRCA-EU X 27660166 27660166 single base substitution G A intron_variant BRCA-EU X 27661974 27661974 single base substitution C T intron_variant BRCA-EU X 27662630 27662630 single base substitution C A intron_variant BRCA-EU X 27662813 27662813 single base substitution G C intron_variant BRCA-EU X 27662833 27662833 single base substitution T C intron_variant BRCA-EU X 27662911 27662911 single base substitution C T intron_variant BRCA-EU X 27663102 27663102 single base substitution T A intron_variant BRCA-EU X 27663341 27663341 single base substitution T A intron_variant BRCA-EU X 27663571 27663571 single base substitution C A intron_variant BRCA-EU X 27664000 27664000 single base substitution G A intron_variant BRCA-EU X 27664408 27664408 single base substitution T G intron_variant BRCA-EU X 27664410 27664410 single base substitution G A intron_variant BRCA-EU X 27664411 27664411 single base substitution A C intron_variant BRCA-EU X 27664754 27664754 single base substitution G A intron_variant BRCA-EU X 27664830 27664830 insertion of <=200bp - A intron_variant BRCA-EU X 27664887 27664887 deletion of <=200bp A - intron_variant BRCA-EU X 27664887 27664887 insertion of <=200bp - A intron_variant BRCA-EU X 27664986 27664986 single base substitution A T intron_variant BRCA-EU X 27665362 27665362 single base substitution C G intron_variant BRCA-EU X 27665459 27665459 single base substitution A T intron_variant BRCA-EU X 27666396 27666396 single base substitution A T intron_variant BRCA-EU X 27666579 27666579 single base substitution T C intron_variant BRCA-EU X 27666683 27666683 single base substitution A C intron_variant BRCA-EU X 27667532 27667532 single base substitution C T intron_variant BRCA-EU X 27667792 27667792 single base substitution A C intron_variant BRCA-EU X 27668563 27668563 single base substitution A T intron_variant BRCA-EU X 27668630 27668630 single base substitution C G intron_variant BRCA-EU X 27669170 27669170 deletion of <=200bp C - intron_variant BRCA-EU X 27669549 27669549 single base substitution G T intron_variant BRCA-EU X 27669907 27669907 single base substitution G A intron_variant BRCA-EU X 27671194 27671194 single base substitution C A intron_variant BRCA-EU X 27671969 27671969 single base substitution G C intron_variant BRCA-EU X 27673265 27673265 single base substitution A C intron_variant BRCA-EU X 27673367 27673367 single base substitution C A intron_variant BRCA-EU X 27674264 27674264 single base substitution G A intron_variant BRCA-EU X 27674454 27674454 single base substitution C T intron_variant BRCA-EU X 27677088 27677088 single base substitution C G intron_variant BRCA-EU X 27677448 27677448 single base substitution C G intron_variant BRCA-EU X 27677483 27677483 single base substitution G A intron_variant BRCA-EU X 27678205 27678205 single base substitution T C intron_variant BRCA-EU X 27678485 27678485 single base substitution T C intron_variant BRCA-EU X 27678528 27678528 deletion of <=200bp T - intron_variant BRCA-EU X 27679189 27679189 single base substitution G T intron_variant BRCA-EU X 27682175 27682175 single base substitution G A intron_variant BRCA-EU X 27682183 27682183 single base substitution G A intron_variant BRCA-EU X 27682472 27682472 single base substitution C A intron_variant BRCA-EU X 27684219 27684219 single base substitution A G intron_variant BRCA-EU X 27684357 27684357 single base substitution C T intron_variant BRCA-EU X 27684407 27684407 single base substitution T C intron_variant BRCA-EU X 27684833 27684833 single base substitution C G intron_variant BRCA-EU X 27684929 27684929 single base substitution T C intron_variant BRCA-EU X 27685303 27685303 single base substitution G A intron_variant BRCA-EU X 27686139 27686139 single base substitution G T intron_variant BRCA-EU X 27686645 27686645 single base substitution T A intron_variant BRCA-EU X 27687041 27687041 single base substitution G A intron_variant BRCA-EU X 27687300 27687300 single base substitution A G intron_variant BRCA-EU X 27687492 27687492 single base substitution T C intron_variant BRCA-EU X 27687733 27687733 single base substitution C T intron_variant BRCA-EU X 27688863 27688863 single base substitution A G intron_variant BRCA-EU X 27688937 27688937 single base substitution C A intron_variant BRCA-EU X 27689839 27689839 single base substitution G T intron_variant BRCA-EU X 27690063 27690081 multiple base substitution (>=2bp and <=200bp) ATGTACAGGCTATACTAAA AAACCTGGG intron_variant BRCA-EU X 27690174 27690174 single base substitution G A intron_variant BRCA-EU X 27690259 27690259 single base substitution C A intron_variant BRCA-EU X 27690933 27690933 single base substitution A T intron_variant BRCA-EU X 27691406 27691406 single base substitution C A intron_variant BRCA-EU X 27691482 27691482 single base substitution G A intron_variant BRCA-EU X 27691937 27691937 single base substitution T C intron_variant BRCA-EU X 27692074 27692074 single base substitution G A intron_variant BRCA-EU X 27692725 27692725 single base substitution G C intron_variant BRCA-EU X 27694396 27694396 single base substitution T C intron_variant BRCA-EU X 27694661 27694661 single base substitution G A intron_variant BRCA-EU X 27694715 27694715 single base substitution G T intron_variant BRCA-EU X 27695045 27695045 single base substitution G A intron_variant BRCA-EU X 27695871 27695871 single base substitution C G intron_variant BRCA-EU X 27697752 27697752 single base substitution C T intron_variant BRCA-EU X 27698020 27698020 single base substitution C T intron_variant BRCA-EU X 27698042 27698042 single base substitution G C intron_variant BRCA-EU X 27698138 27698138 single base substitution A T intron_variant BRCA-EU X 27698707 27698707 single base substitution C T intron_variant BRCA-EU X 27698712 27698712 insertion of <=200bp - T intron_variant BRCA-EU X 27699217 27699217 single base substitution C G intron_variant BRCA-EU X 27700333 27700333 single base substitution C T intron_variant BRCA-EU X 27700424 27700424 deletion of <=200bp T - intron_variant BRCA-EU X 27700901 27700901 single base substitution A C intron_variant BRCA-EU X 27701371 27701371 single base substitution C A intron_variant BRCA-EU X 27701757 27701757 single base substitution G A intron_variant BRCA-EU X 27701815 27701815 single base substitution A G intron_variant BRCA-EU X 27701851 27701851 single base substitution C A intron_variant BRCA-EU X 27701911 27701911 single base substitution T C intron_variant BRCA-EU X 27702713 27702713 single base substitution G A intron_variant BRCA-EU X 27702819 27702819 single base substitution A T intron_variant BRCA-EU X 27702937 27702937 single base substitution G T intron_variant BRCA-EU X 27703051 27703052 deletion of <=200bp TT - intron_variant BRCA-EU X 27703632 27703632 single base substitution C G intron_variant BRCA-EU X 27703663 27703663 single base substitution G A intron_variant BRCA-EU X 27704382 27704382 single base substitution C G intron_variant BRCA-EU X 27704856 27704856 single base substitution A C intron_variant BRCA-EU X 27705064 27705064 single base substitution G A intron_variant BRCA-EU X 27705996 27705996 single base substitution C T intron_variant BRCA-EU X 27706513 27706513 single base substitution G C intron_variant BRCA-EU X 27706763 27706763 deletion of <=200bp A - intron_variant BRCA-EU X 27707381 27707381 single base substitution G A intron_variant BRCA-EU X 27707705 27707705 single base substitution C A intron_variant BRCA-EU X 27708686 27708686 single base substitution T C intron_variant BRCA-EU X 27709600 27709600 single base substitution A G intron_variant BRCA-EU X 27709857 27709857 single base substitution G C intron_variant BRCA-EU X 27710044 27710044 single base substitution G A intron_variant BRCA-EU X 27710340 27710340 single base substitution T C intron_variant BRCA-EU X 27710810 27710810 single base substitution A G intron_variant BRCA-EU X 27711316 27711316 single base substitution G C intron_variant BRCA-EU X 27711737 27711737 single base substitution T C intron_variant BRCA-EU X 27711878 27711878 single base substitution T A intron_variant BRCA-EU X 27711992 27711992 single base substitution G C intron_variant BRCA-EU X 27712148 27712148 insertion of <=200bp - A intron_variant BRCA-EU X 27712576 27712576 single base substitution T C intron_variant BRCA-EU X 27713131 27713131 single base substitution T A intron_variant BRCA-EU X 27714041 27714041 single base substitution T A intron_variant BRCA-EU X 27714510 27714510 single base substitution A G intron_variant BRCA-EU X 27715017 27715017 deletion of <=200bp T - intron_variant BRCA-EU X 27715762 27715762 single base substitution T C intron_variant BRCA-EU X 27716423 27716423 single base substitution A T intron_variant BRCA-EU X 27717673 27717673 single base substitution A G intron_variant BRCA-EU X 27717717 27717717 single base substitution A G intron_variant BRCA-EU X 27717936 27717936 single base substitution G A intron_variant BRCA-EU X 27718663 27718663 single base substitution T A intron_variant BRCA-EU X 27718751 27718751 single base substitution C T intron_variant BRCA-EU X 27719389 27719389 single base substitution C T intron_variant BRCA-EU X 27720398 27720398 single base substitution G C intron_variant BRCA-EU X 27722457 27722457 single base substitution C T intron_variant BRCA-EU X 27722600 27722600 single base substitution T C intron_variant BRCA-EU X 27723101 27723101 single base substitution C G intron_variant BRCA-EU X 27723146 27723146 single base substitution T C intron_variant BRCA-EU X 27723607 27723607 single base substitution T G intron_variant BRCA-EU X 27724547 27724547 single base substitution A G intron_variant BRCA-EU X 27724770 27724770 single base substitution G T intron_variant BRCA-EU X 27724772 27724772 single base substitution A G intron_variant BRCA-EU X 27725411 27725411 single base substitution C G intron_variant BRCA-EU X 27725573 27725573 single base substitution C G intron_variant BRCA-EU X 27725892 27725892 single base substitution G C intron_variant BRCA-EU X 27725942 27725942 single base substitution G A intron_variant BRCA-EU X 27726154 27726154 single base substitution G A intron_variant BRCA-EU X 27726260 27726260 single base substitution T G intron_variant BRCA-EU X 27726287 27726287 single base substitution A G intron_variant BRCA-EU X 27727342 27727342 single base substitution C T intron_variant BRCA-EU X 27728852 27728852 single base substitution T C intron_variant BRCA-EU X 27730656 27730656 single base substitution T A intron_variant BRCA-EU X 27730962 27730962 single base substitution A T downstream_gene_variant BRCA-EU X 27730962 27730962 single base substitution A T intron_variant BRCA-EU X 27731244 27731244 single base substitution G T downstream_gene_variant BRCA-EU X 27731244 27731244 single base substitution G T intron_variant BRCA-EU X 27731661 27731661 single base substitution G T downstream_gene_variant BRCA-EU X 27731661 27731661 single base substitution G T intron_variant BRCA-EU X 27733035 27733035 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 27733035 27733035 insertion of <=200bp - T intron_variant BRCA-EU X 27734245 27734245 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU X 27734245 27734245 single base substitution C T downstream_gene_variant BRCA-EU X 27734245 27734245 single base substitution C T exon_variant BRCA-EU X 27734351 27734351 single base substitution C G downstream_gene_variant BRCA-EU X 27734351 27734351 single base substitution C G intron_variant BRCA-EU X 27734423 27734423 single base substitution G T downstream_gene_variant BRCA-EU X 27734423 27734423 single base substitution G T intron_variant BRCA-EU X 27734970 27734970 single base substitution G A downstream_gene_variant BRCA-EU X 27734970 27734970 single base substitution G A intron_variant BRCA-EU X 27736759 27736759 insertion of <=200bp - A intron_variant BRCA-EU X 27736916 27736916 single base substitution C A intron_variant BRCA-EU X 27737436 27737436 single base substitution A T intron_variant BRCA-EU X 27738309 27738309 single base substitution A G intron_variant BRCA-EU X 27738493 27738493 insertion of <=200bp - T intron_variant BRCA-EU X 27738495 27738495 single base substitution T A intron_variant BRCA-EU X 27738910 27738910 single base substitution A T intron_variant BRCA-EU X 27741452 27741453 deletion of <=200bp AA - intron_variant BRCA-EU X 27742162 27742162 single base substitution C T intron_variant BRCA-EU X 27743207 27743207 deletion of <=200bp T - intron_variant BRCA-EU X 27743265 27743265 single base substitution A T intron_variant BRCA-EU X 27743532 27743532 single base substitution A C intron_variant BRCA-EU X 27743814 27743814 single base substitution C A intron_variant BRCA-EU X 27744059 27744059 single base substitution G A intron_variant BRCA-EU X 27744233 27744233 single base substitution A G intron_variant BRCA-EU X 27744888 27744888 single base substitution C T intron_variant BRCA-EU X 27745520 27745520 single base substitution C G intron_variant BRCA-EU X 27745736 27745736 single base substitution C G intron_variant BRCA-EU X 27747160 27747160 single base substitution G T intron_variant BRCA-EU X 27747573 27747573 deletion of <=200bp T - intron_variant BRCA-EU X 27749252 27749252 single base substitution C T intron_variant BRCA-EU X 27750166 27750166 single base substitution G A intron_variant BRCA-EU X 27751465 27751465 single base substitution C A intron_variant BRCA-EU X 27751490 27751490 single base substitution C T intron_variant BRCA-EU X 27751684 27751684 single base substitution G C intron_variant BRCA-EU X 27751931 27751931 single base substitution C T intron_variant BRCA-EU X 27752317 27752317 single base substitution A T intron_variant BRCA-EU X 27752889 27752889 single base substitution G T intron_variant BRCA-EU X 27753292 27753292 single base substitution C T intron_variant BRCA-EU X 27753348 27753348 single base substitution C T intron_variant BRCA-EU X 27753377 27753377 single base substitution C A intron_variant BRCA-EU X 27754837 27754837 single base substitution C A intron_variant BRCA-EU X 27755127 27755127 single base substitution C T intron_variant BRCA-EU X 27755608 27755608 single base substitution G A intron_variant BRCA-EU X 27755972 27755972 insertion of <=200bp - A intron_variant BRCA-EU X 27756712 27756712 single base substitution C T intron_variant BRCA-EU X 27756937 27756937 single base substitution C T intron_variant BRCA-EU X 27757015 27757015 single base substitution C T intron_variant BRCA-EU X 27758960 27758961 deletion of <=200bp TC - intron_variant BRCA-EU X 27759721 27759721 single base substitution T A intron_variant BRCA-EU X 27760915 27760915 single base substitution C T intron_variant BRCA-EU X 27761025 27761025 single base substitution T C intron_variant BRCA-EU X 27761129 27761129 single base substitution G C intron_variant BRCA-EU X 27761432 27761432 single base substitution G A intron_variant BRCA-EU X 27761575 27761575 single base substitution C T intron_variant BRCA-EU X 27761661 27761661 single base substitution C G intron_variant BRCA-EU X 27762744 27762744 insertion of <=200bp - A intron_variant BRCA-EU X 27762958 27762958 single base substitution C T intron_variant BRCA-EU X 27763697 27763697 single base substitution C A intron_variant BRCA-EU X 27764157 27764157 single base substitution A C intron_variant BRCA-EU X 27764356 27764356 single base substitution C T intron_variant BRCA-EU X 27764690 27764690 single base substitution C T intron_variant BRCA-EU X 27764810 27764810 single base substitution G C intron_variant BRCA-EU X 27764886 27764886 single base substitution T A intron_variant BRCA-EU X 27765167 27765167 single base substitution G A downstream_gene_variant BRCA-EU X 27765167 27765167 single base substitution G A missense_variant G52E 155G>A BRCA-EU X 27765684 27765684 single base substitution T G downstream_gene_variant BRCA-EU X 27765684 27765684 single base substitution T G synonymous_variant L224L 672T>G BRCA-EU X 27766481 27766481 single base substitution A T downstream_gene_variant BRCA-EU X 27766481 27766481 single base substitution A T missense_variant D490V 1469A>T BRCA-EU X 27766677 27766677 single base substitution G C downstream_gene_variant BRCA-EU X 27766677 27766677 single base substitution G C missense_variant K555N 1665G>C BRCA-EU X 27767634 27767634 single base substitution A G downstream_gene_variant BRCA-EU X 27767733 27767733 single base substitution G T downstream_gene_variant BRCA-EU X 27767755 27767755 single base substitution C A downstream_gene_variant BRCA-EU X 27769792 27769792 single base substitution C T downstream_gene_variant BRCA-EU X 27770295 27770295 single base substitution G T downstream_gene_variant BRCA-EU X 27770798 27770798 single base substitution G A downstream_gene_variant BRCA-EU X 27771179 27771179 single base substitution A C downstream_gene_variant BRCA-EU X 27771890 27771890 single base substitution C A downstream_gene_variant BRCA-FR X 27604071 27604071 single base substitution C A upstream_gene_variant BRCA-FR X 27605965 27605965 single base substitution C G upstream_gene_variant BRCA-FR X 27606505 27606505 single base substitution C A upstream_gene_variant BRCA-FR X 27611759 27611759 single base substitution G A intron_variant BRCA-FR X 27612820 27612820 single base substitution G T intron_variant BRCA-FR X 27613469 27613469 single base substitution C A intron_variant BRCA-FR X 27617772 27617772 single base substitution A T intron_variant BRCA-FR X 27626780 27626780 single base substitution G A intron_variant BRCA-FR X 27630684 27630684 single base substitution C T intron_variant BRCA-FR X 27633917 27633917 single base substitution C G intron_variant BRCA-FR X 27634277 27634277 single base substitution C G intron_variant BRCA-FR X 27635023 27635023 single base substitution G C intron_variant BRCA-FR X 27635504 27635504 single base substitution C T intron_variant BRCA-FR X 27639237 27639237 single base substitution G T intron_variant BRCA-FR X 27641787 27641787 single base substitution G C intron_variant BRCA-FR X 27643067 27643067 single base substitution C T intron_variant BRCA-FR X 27649894 27649894 single base substitution C T intron_variant BRCA-FR X 27659652 27659652 single base substitution G C intron_variant BRCA-FR X 27661974 27661974 single base substitution C T intron_variant BRCA-FR X 27664986 27664986 single base substitution A T intron_variant BRCA-FR X 27669471 27669471 single base substitution G C intron_variant BRCA-FR X 27673709 27673709 single base substitution T C intron_variant BRCA-FR X 27675382 27675382 single base substitution G A intron_variant BRCA-FR X 27677483 27677483 single base substitution G A intron_variant BRCA-FR X 27678485 27678485 single base substitution T C intron_variant BRCA-FR X 27682175 27682175 single base substitution G A intron_variant BRCA-FR X 27682183 27682183 single base substitution G A intron_variant BRCA-FR X 27684929 27684929 single base substitution T C intron_variant BRCA-FR X 27692074 27692074 single base substitution G A intron_variant BRCA-FR X 27700564 27700564 single base substitution G T intron_variant BRCA-FR X 27700634 27700634 single base substitution G C intron_variant BRCA-FR X 27701757 27701757 single base substitution G A intron_variant BRCA-FR X 27707381 27707381 single base substitution G A intron_variant BRCA-FR X 27708598 27708598 single base substitution A G intron_variant BRCA-FR X 27722457 27722457 single base substitution C T intron_variant BRCA-FR X 27725573 27725573 single base substitution C G intron_variant BRCA-FR X 27726260 27726260 single base substitution T G intron_variant BRCA-FR X 27726287 27726287 single base substitution A G intron_variant BRCA-FR X 27730962 27730962 single base substitution A T downstream_gene_variant BRCA-FR X 27730962 27730962 single base substitution A T intron_variant BRCA-FR X 27732611 27732611 single base substitution C T downstream_gene_variant BRCA-FR X 27732611 27732611 single base substitution C T intron_variant BRCA-FR X 27735616 27735616 single base substitution T C downstream_gene_variant BRCA-FR X 27735616 27735616 single base substitution T C intron_variant BRCA-FR X 27735626 27735626 single base substitution T G downstream_gene_variant BRCA-FR X 27735626 27735626 single base substitution T G intron_variant BRCA-FR X 27743766 27743766 single base substitution T G intron_variant BRCA-FR X 27744059 27744059 single base substitution G A intron_variant BRCA-FR X 27757523 27757523 single base substitution C T intron_variant BRCA-FR X 27760915 27760915 single base substitution C T intron_variant BRCA-FR X 27761432 27761432 single base substitution G A intron_variant BRCA-FR X 27766677 27766677 single base substitution G C downstream_gene_variant BRCA-FR X 27766677 27766677 single base substitution G C missense_variant K555N 1665G>C BRCA-KR X 27765751 27765751 single base substitution G A downstream_gene_variant BRCA-KR X 27765751 27765751 single base substitution G A missense_variant G247S 739G>A BRCA-UK X 27610281 27610281 single base substitution C T intron_variant BRCA-UK X 27624684 27624684 single base substitution C T intron_variant BRCA-UK X 27625437 27625437 single base substitution G T intron_variant BRCA-UK X 27631849 27631849 single base substitution C T intron_variant BRCA-UK X 27640535 27640535 single base substitution C G intron_variant BRCA-UK X 27655400 27655400 single base substitution A C downstream_gene_variant BRCA-UK X 27655400 27655400 single base substitution A C intron_variant BRCA-UK X 27667532 27667532 single base substitution C T intron_variant BRCA-UK X 27668563 27668563 single base substitution A T intron_variant BRCA-UK X 27685303 27685303 single base substitution G A intron_variant BRCA-UK X 27689839 27689839 single base substitution G T intron_variant BRCA-UK X 27699176 27699176 single base substitution G C intron_variant BRCA-UK X 27710810 27710810 single base substitution A G intron_variant BRCA-UK X 27767634 27767634 single base substitution A G downstream_gene_variant BRCA-US X 27765025 27765025 single base substitution G A downstream_gene_variant BRCA-US X 27765025 27765025 single base substitution G A missense_variant E5K 13G>A BRCA-US X 27765411 27765411 single base substitution G A downstream_gene_variant BRCA-US X 27765411 27765411 single base substitution G A synonymous_variant E133E 399G>A BRCA-US X 27765438 27765438 single base substitution G A downstream_gene_variant BRCA-US X 27765438 27765438 single base substitution G A synonymous_variant E142E 426G>A BRCA-US X 27765579 27765579 single base substitution C T downstream_gene_variant BRCA-US X 27765579 27765579 single base substitution C T synonymous_variant V189V 567C>T BRCA-US X 27765792 27765792 single base substitution G A downstream_gene_variant BRCA-US X 27765792 27765792 single base substitution G A synonymous_variant Q260Q 780G>A BRCA-US X 27765804 27765804 single base substitution G A downstream_gene_variant BRCA-US X 27765804 27765804 single base substitution G A synonymous_variant L264L 792G>A BRCA-US X 27766112 27766112 single base substitution T G downstream_gene_variant BRCA-US X 27766112 27766112 single base substitution T G missense_variant V367G 1100T>G BTCA-JP X 27765055 27765055 single base substitution G T downstream_gene_variant BTCA-JP X 27765055 27765055 single base substitution G T missense_variant G15W 43G>T BTCA-JP X 27765069 27765069 single base substitution G T downstream_gene_variant BTCA-JP X 27765069 27765069 single base substitution G T synonymous_variant L19L 57G>T BTCA-JP X 27765309 27765309 single base substitution T C downstream_gene_variant BTCA-JP X 27765309 27765309 single base substitution T C synonymous_variant S99S 297T>C BTCA-JP X 27765399 27765399 single base substitution A G downstream_gene_variant BTCA-JP X 27765399 27765399 single base substitution A G synonymous_variant E129E 387A>G BTCA-JP X 27765411 27765411 single base substitution G A downstream_gene_variant BTCA-JP X 27765411 27765411 single base substitution G A synonymous_variant E133E 399G>A BTCA-JP X 27765444 27765444 single base substitution G A downstream_gene_variant BTCA-JP X 27765444 27765444 single base substitution G A synonymous_variant E144E 432G>A BTCA-JP X 27765447 27765447 single base substitution A G downstream_gene_variant BTCA-JP X 27765447 27765447 single base substitution A G synonymous_variant E145E 435A>G BTCA-JP X 27765484 27765484 single base substitution G A downstream_gene_variant BTCA-JP X 27765484 27765484 single base substitution G A missense_variant G158S 472G>A BTCA-JP X 27766234 27766234 single base substitution C A downstream_gene_variant BTCA-JP X 27766234 27766234 single base substitution C A missense_variant L408I 1222C>A CESC-US X 27765143 27765143 single base substitution C T downstream_gene_variant CESC-US X 27765143 27765143 single base substitution C T missense_variant S44L 131C>T CESC-US X 27765223 27765223 single base substitution C T downstream_gene_variant CESC-US X 27765223 27765223 single base substitution C T stop_gained R71* 211C>T CESC-US X 27765662 27765662 single base substitution G A downstream_gene_variant CESC-US X 27765662 27765662 single base substitution G A missense_variant R217H 650G>A CESC-US X 27765682 27765682 single base substitution C T downstream_gene_variant CESC-US X 27765682 27765682 single base substitution C T missense_variant L224F 670C>T CESC-US X 27766066 27766066 single base substitution C T downstream_gene_variant CESC-US X 27766066 27766066 single base substitution C T missense_variant R352W 1054C>T CESC-US X 27766524 27766524 single base substitution C A downstream_gene_variant CESC-US X 27766524 27766524 single base substitution C A synonymous_variant I504I 1512C>A CESC-US X 27766674 27766674 single base substitution G A downstream_gene_variant CESC-US X 27766674 27766674 single base substitution G A synonymous_variant K554K 1662G>A CESC-US X 27766685 27766685 single base substitution A C downstream_gene_variant CESC-US X 27766685 27766685 single base substitution A C missense_variant K558T 1673A>C CLLE-ES X 27618931 27618931 single base substitution T A intron_variant CLLE-ES X 27619822 27619822 single base substitution A T intron_variant CLLE-ES X 27621679 27621679 single base substitution C A intron_variant CLLE-ES X 27623894 27623894 single base substitution T G intron_variant CLLE-ES X 27637248 27637248 single base substitution A C intron_variant CLLE-ES X 27637476 27637476 single base substitution A G intron_variant CLLE-ES X 27649910 27649910 single base substitution T C intron_variant CLLE-ES X 27651286 27651286 single base substitution G A exon_variant CLLE-ES X 27651286 27651286 single base substitution G A intron_variant CLLE-ES X 27653724 27653724 single base substitution G A downstream_gene_variant CLLE-ES X 27653724 27653724 single base substitution G A intron_variant CLLE-ES X 27656284 27656284 single base substitution G A downstream_gene_variant CLLE-ES X 27656284 27656284 single base substitution G A intron_variant CLLE-ES X 27657811 27657811 single base substitution T C intron_variant CLLE-ES X 27657851 27657851 single base substitution A C intron_variant CLLE-ES X 27658721 27658721 single base substitution G T intron_variant CLLE-ES X 27659443 27659443 single base substitution A C intron_variant CLLE-ES X 27659714 27659714 single base substitution G A intron_variant CLLE-ES X 27671499 27671499 single base substitution C G intron_variant CLLE-ES X 27671568 27671568 single base substitution A C intron_variant CLLE-ES X 27671780 27671780 single base substitution A C intron_variant CLLE-ES X 27672914 27672914 single base substitution T G intron_variant CLLE-ES X 27673766 27673766 single base substitution T A intron_variant CLLE-ES X 27674808 27674808 single base substitution A C intron_variant CLLE-ES X 27679784 27679784 single base substitution T G intron_variant CLLE-ES X 27681792 27681792 deletion of <=200bp G - intron_variant CLLE-ES X 27682882 27682882 single base substitution C A intron_variant CLLE-ES X 27685945 27685945 single base substitution T G intron_variant CLLE-ES X 27686680 27686680 single base substitution T C intron_variant CLLE-ES X 27688021 27688021 single base substitution T A intron_variant CLLE-ES X 27692432 27692432 single base substitution T G intron_variant CLLE-ES X 27699680 27699680 single base substitution T C intron_variant CLLE-ES X 27703063 27703063 single base substitution C A intron_variant CLLE-ES X 27703532 27703532 single base substitution T A intron_variant CLLE-ES X 27708996 27708996 single base substitution G T intron_variant CLLE-ES X 27715268 27715268 single base substitution G C intron_variant CLLE-ES X 27727945 27727945 single base substitution T A intron_variant CLLE-ES X 27738780 27738780 single base substitution G A intron_variant CLLE-ES X 27740618 27740618 single base substitution A C intron_variant CLLE-ES X 27742455 27742456 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant CLLE-ES X 27744792 27744792 single base substitution G T intron_variant CLLE-ES X 27759372 27759372 single base substitution T A intron_variant CLLE-ES X 27761753 27761753 deletion of <=200bp C - intron_variant CLLE-ES X 27764505 27764505 single base substitution T A intron_variant CLLE-ES X 27770665 27770665 single base substitution C T downstream_gene_variant COAD-US X 27765400 27765408 deletion of <=200bp GAGGAGGAG - downstream_gene_variant COAD-US X 27765400 27765408 deletion of <=200bp GAGGAGGAG - inframe_deletion EEE130 COAD-US X 27765408 27765408 single base substitution G A downstream_gene_variant COAD-US X 27765408 27765408 single base substitution G A synonymous_variant E132E 396G>A COAD-US X 27765411 27765411 single base substitution G A downstream_gene_variant COAD-US X 27765411 27765411 single base substitution G A synonymous_variant E133E 399G>A COAD-US X 27765447 27765447 single base substitution A G downstream_gene_variant COAD-US X 27765447 27765447 single base substitution A G synonymous_variant E145E 435A>G COAD-US X 27765521 27765521 single base substitution C T downstream_gene_variant COAD-US X 27765521 27765521 single base substitution C T missense_variant A170V 509C>T COAD-US X 27765563 27765563 single base substitution G A downstream_gene_variant COAD-US X 27765563 27765563 single base substitution G A missense_variant R184Q 551G>A COAD-US X 27765898 27765898 single base substitution C A downstream_gene_variant COAD-US X 27765898 27765898 single base substitution C A missense_variant Q296K 886C>A COAD-US X 27766045 27766045 single base substitution A G downstream_gene_variant COAD-US X 27766045 27766045 single base substitution A G missense_variant T345A 1033A>G COAD-US X 27766245 27766245 single base substitution C A downstream_gene_variant COAD-US X 27766245 27766245 single base substitution C A missense_variant F411L 1233C>A COAD-US X 27766776 27766776 single base substitution G A downstream_gene_variant COAD-US X 27766776 27766776 single base substitution G A synonymous_variant T588T 1764G>A COCA-CN X 27764957 27764957 single base substitution C A splice_region_variant EOPC-DE X 27637436 27637436 single base substitution G A intron_variant EOPC-DE X 27670008 27670008 single base substitution G A intron_variant EOPC-DE X 27677625 27677625 single base substitution G T intron_variant EOPC-DE X 27698750 27698750 single base substitution T A intron_variant EOPC-DE X 27701319 27701319 single base substitution T C intron_variant ESCA-CN X 27765399 27765399 single base substitution A G downstream_gene_variant ESCA-CN X 27765399 27765399 single base substitution A G synonymous_variant E129E 387A>G ESCA-CN X 27765726 27765726 single base substitution G A downstream_gene_variant ESCA-CN X 27765726 27765726 single base substitution G A synonymous_variant Q238Q 714G>A GBM-US X 27765562 27765562 single base substitution C T downstream_gene_variant GBM-US X 27765562 27765562 single base substitution C T stop_gained R184* 550C>T GBM-US X 27765650 27765650 single base substitution C A downstream_gene_variant GBM-US X 27765650 27765650 single base substitution C A missense_variant A213D 638C>A GBM-US X 27766165 27766165 single base substitution G T downstream_gene_variant GBM-US X 27766165 27766165 single base substitution G T missense_variant G385C 1153G>T KIRC-US X 27765420 27765420 insertion of <=200bp - ATACAA disruptive_inframe_insertion E136EYK KIRC-US X 27765420 27765420 insertion of <=200bp - ATACAA downstream_gene_variant KIRC-US X 27766433 27766433 single base substitution G T downstream_gene_variant KIRC-US X 27766433 27766433 single base substitution G T missense_variant G474V 1421G>T KIRC-US X 27766775 27766775 single base substitution C T downstream_gene_variant KIRC-US X 27766775 27766775 single base substitution C T missense_variant T588M 1763C>T LAML-KR X 27657824 27657824 single base substitution A T intron_variant LAML-KR X 27714349 27714349 single base substitution T A intron_variant LICA-CN X 27765465 27765465 single base substitution G A downstream_gene_variant LICA-CN X 27765465 27765465 single base substitution G A synonymous_variant A151A 453G>A LICA-CN X 27766689 27766689 single base substitution G C downstream_gene_variant LICA-CN X 27766689 27766689 single base substitution G C missense_variant K559N 1677G>C LICA-FR X 27646845 27646845 single base substitution A C intron_variant LICA-FR X 27659215 27659215 single base substitution G T intron_variant LICA-FR X 27668474 27668474 single base substitution A G intron_variant LICA-FR X 27672028 27672028 single base substitution A T intron_variant LICA-FR X 27679721 27679721 single base substitution T C intron_variant LICA-FR X 27697709 27697709 single base substitution C T intron_variant LICA-FR X 27698414 27698414 single base substitution A T intron_variant LICA-FR X 27712881 27712881 single base substitution A C intron_variant LICA-FR X 27738493 27738493 deletion of <=200bp T - intron_variant LICA-FR X 27750003 27750003 single base substitution T A intron_variant LICA-FR X 27758069 27758069 single base substitution T A intron_variant LICA-FR X 27765522 27765522 single base substitution G A downstream_gene_variant LICA-FR X 27765522 27765522 single base substitution G A synonymous_variant A170A 510G>A LICA-FR X 27765798 27765798 single base substitution A G downstream_gene_variant LICA-FR X 27765798 27765798 single base substitution A G synonymous_variant P262P 786A>G LICA-FR X 27766357 27766357 single base substitution T C downstream_gene_variant LICA-FR X 27766357 27766357 single base substitution T C missense_variant F449L 1345T>C LICA-FR X 27766800 27766800 single base substitution G C downstream_gene_variant LICA-FR X 27766800 27766800 single base substitution G C missense_variant W596C 1788G>C LIHC-US X 27765469 27765469 single base substitution C T downstream_gene_variant LIHC-US X 27765469 27765469 single base substitution C T missense_variant P153S 457C>T LINC-JP X 27609133 27609133 single base substitution A T intron_variant LINC-JP X 27618020 27618020 single base substitution T C intron_variant LINC-JP X 27621942 27621942 single base substitution G A intron_variant LINC-JP X 27627293 27627293 single base substitution A G intron_variant LINC-JP X 27627909 27627909 single base substitution A C intron_variant LINC-JP X 27658379 27658379 single base substitution T G intron_variant LINC-JP X 27699548 27699548 single base substitution G A intron_variant LINC-JP X 27703408 27703408 single base substitution C A intron_variant LINC-JP X 27704449 27704449 single base substitution C T intron_variant LINC-JP X 27706383 27706383 single base substitution A G intron_variant LINC-JP X 27710510 27710510 single base substitution A G intron_variant LINC-JP X 27714037 27714037 single base substitution G C intron_variant LINC-JP X 27716731 27716731 single base substitution G A intron_variant LINC-JP X 27724600 27724600 single base substitution C T intron_variant LINC-JP X 27727385 27727385 deletion of <=200bp G - intron_variant LINC-JP X 27728713 27728713 single base substitution G A intron_variant LINC-JP X 27729740 27729740 single base substitution G T intron_variant LINC-JP X 27743176 27743176 single base substitution T C intron_variant LINC-JP X 27747007 27747007 single base substitution G A intron_variant LINC-JP X 27748816 27748816 single base substitution C T intron_variant LINC-JP X 27749914 27749914 single base substitution T C intron_variant LINC-JP X 27761070 27761070 single base substitution A T intron_variant LINC-JP X 27765399 27765399 single base substitution A G downstream_gene_variant LINC-JP X 27765399 27765399 single base substitution A G synonymous_variant E129E 387A>G LINC-JP X 27765408 27765408 single base substitution G A downstream_gene_variant LINC-JP X 27765408 27765408 single base substitution G A synonymous_variant E132E 396G>A LINC-JP X 27765411 27765412 deletion of <=200bp GG - downstream_gene_variant LINC-JP X 27765411 27765412 deletion of <=200bp GG - frameshift_variant EE133 LINC-JP X 27765438 27765438 single base substitution G A downstream_gene_variant LINC-JP X 27765438 27765438 single base substitution G A synonymous_variant E142E 426G>A LINC-JP X 27765816 27765816 single base substitution T C downstream_gene_variant LINC-JP X 27765816 27765816 single base substitution T C synonymous_variant S268S 804T>C LINC-JP X 27766498 27766498 single base substitution T G downstream_gene_variant LINC-JP X 27766498 27766498 single base substitution T G missense_variant F496V 1486T>G LIRI-JP X 27605668 27605668 single base substitution T C upstream_gene_variant LIRI-JP X 27610117 27610117 single base substitution G T intron_variant LIRI-JP X 27610412 27610412 single base substitution G C intron_variant LIRI-JP X 27610628 27610628 single base substitution A G intron_variant LIRI-JP X 27611158 27611158 single base substitution C A intron_variant LIRI-JP X 27611421 27611421 single base substitution A G intron_variant LIRI-JP X 27611773 27611773 single base substitution C T intron_variant LIRI-JP X 27611834 27611834 single base substitution C T intron_variant LIRI-JP X 27611876 27611876 single base substitution A T intron_variant LIRI-JP X 27614962 27614962 single base substitution A G intron_variant LIRI-JP X 27615562 27615562 single base substitution C T intron_variant LIRI-JP X 27616564 27616564 single base substitution G C intron_variant LIRI-JP X 27617586 27617586 single base substitution A G intron_variant LIRI-JP X 27618004 27618004 single base substitution A G intron_variant LIRI-JP X 27618119 27618119 single base substitution A G intron_variant LIRI-JP X 27619293 27619293 single base substitution A G intron_variant LIRI-JP X 27620377 27620377 single base substitution C T intron_variant LIRI-JP X 27622293 27622293 deletion of <=200bp A - intron_variant LIRI-JP X 27622688 27622688 single base substitution T A intron_variant LIRI-JP X 27624622 27624622 single base substitution G T intron_variant LIRI-JP X 27625366 27625366 single base substitution G T intron_variant LIRI-JP X 27627802 27627802 single base substitution G A intron_variant LIRI-JP X 27628312 27628312 single base substitution C A intron_variant LIRI-JP X 27630141 27630141 single base substitution T A intron_variant LIRI-JP X 27630272 27630272 single base substitution T A intron_variant LIRI-JP X 27631110 27631110 single base substitution A G intron_variant LIRI-JP X 27635065 27635071 deletion of <=200bp ATTTTGA - intron_variant LIRI-JP X 27635645 27635645 single base substitution C G intron_variant LIRI-JP X 27635653 27635653 single base substitution C T intron_variant LIRI-JP X 27636910 27636910 single base substitution G T intron_variant LIRI-JP X 27637847 27637847 single base substitution T C intron_variant LIRI-JP X 27639187 27639187 single base substitution A G intron_variant LIRI-JP X 27640252 27640252 single base substitution A G intron_variant LIRI-JP X 27640312 27640312 single base substitution C G intron_variant LIRI-JP X 27641852 27641852 single base substitution A G intron_variant LIRI-JP X 27642110 27642110 single base substitution G T intron_variant LIRI-JP X 27642922 27642922 single base substitution C T intron_variant LIRI-JP X 27644375 27644375 single base substitution G C intron_variant LIRI-JP X 27647952 27647952 single base substitution T C intron_variant LIRI-JP X 27651142 27651142 single base substitution G T exon_variant LIRI-JP X 27651142 27651142 single base substitution G T intron_variant LIRI-JP X 27651349 27651349 single base substitution C A exon_variant LIRI-JP X 27651349 27651349 single base substitution C A intron_variant LIRI-JP X 27654113 27654113 single base substitution A G downstream_gene_variant LIRI-JP X 27654113 27654113 single base substitution A G intron_variant LIRI-JP X 27654299 27654299 single base substitution T C downstream_gene_variant LIRI-JP X 27654299 27654299 single base substitution T C intron_variant LIRI-JP X 27654359 27654359 single base substitution A T downstream_gene_variant LIRI-JP X 27654359 27654359 single base substitution A T intron_variant LIRI-JP X 27654673 27654673 single base substitution T A downstream_gene_variant LIRI-JP X 27654673 27654673 single base substitution T A intron_variant LIRI-JP X 27654688 27654688 single base substitution G A downstream_gene_variant LIRI-JP X 27654688 27654688 single base substitution G A intron_variant LIRI-JP X 27655422 27655422 single base substitution C A downstream_gene_variant LIRI-JP X 27655422 27655422 single base substitution C A intron_variant LIRI-JP X 27656800 27656800 single base substitution T A downstream_gene_variant LIRI-JP X 27656800 27656800 single base substitution T A intron_variant LIRI-JP X 27657243 27657243 single base substitution C A intron_variant LIRI-JP X 27657279 27657279 single base substitution T C intron_variant LIRI-JP X 27661182 27661182 single base substitution A G intron_variant LIRI-JP X 27661212 27661212 single base substitution A G intron_variant LIRI-JP X 27662392 27662392 single base substitution G T intron_variant LIRI-JP X 27662559 27662559 single base substitution C T intron_variant LIRI-JP X 27665564 27665564 single base substitution T A intron_variant LIRI-JP X 27667126 27667126 single base substitution T A intron_variant LIRI-JP X 27668607 27668607 single base substitution T C intron_variant LIRI-JP X 27673083 27673083 single base substitution A G intron_variant LIRI-JP X 27673354 27673354 single base substitution A G intron_variant LIRI-JP X 27674889 27674889 single base substitution A T intron_variant LIRI-JP X 27675384 27675384 single base substitution A C intron_variant LIRI-JP X 27675404 27675404 single base substitution A G intron_variant LIRI-JP X 27676546 27676546 single base substitution T C intron_variant LIRI-JP X 27677456 27677456 single base substitution C G intron_variant LIRI-JP X 27678374 27678374 single base substitution C T intron_variant LIRI-JP X 27683741 27683741 single base substitution T C intron_variant LIRI-JP X 27683857 27683857 single base substitution T C intron_variant LIRI-JP X 27685582 27685582 single base substitution C A intron_variant LIRI-JP X 27687316 27687316 single base substitution G A intron_variant LIRI-JP X 27689424 27689424 single base substitution T C intron_variant LIRI-JP X 27690040 27690040 single base substitution T C intron_variant LIRI-JP X 27691262 27691262 single base substitution T A intron_variant LIRI-JP X 27693268 27693268 single base substitution A T intron_variant LIRI-JP X 27694153 27694153 single base substitution T C intron_variant LIRI-JP X 27694653 27694653 single base substitution G A intron_variant LIRI-JP X 27695086 27695086 single base substitution C T exon_variant LIRI-JP X 27695086 27695086 single base substitution C T intron_variant LIRI-JP X 27695802 27695802 single base substitution G A intron_variant LIRI-JP X 27696381 27696381 single base substitution A G intron_variant LIRI-JP X 27698204 27698204 single base substitution C T intron_variant LIRI-JP X 27699775 27699775 single base substitution T A intron_variant LIRI-JP X 27700400 27700400 single base substitution A G intron_variant LIRI-JP X 27701845 27701845 single base substitution C G intron_variant LIRI-JP X 27703209 27703209 single base substitution T C intron_variant LIRI-JP X 27703365 27703365 single base substitution A G intron_variant LIRI-JP X 27703916 27703916 single base substitution T G intron_variant LIRI-JP X 27705116 27705116 single base substitution G A intron_variant LIRI-JP X 27709195 27709195 single base substitution T C intron_variant LIRI-JP X 27711536 27711536 single base substitution A G intron_variant LIRI-JP X 27711570 27711570 single base substitution T C intron_variant LIRI-JP X 27711848 27711848 single base substitution A G intron_variant LIRI-JP X 27712140 27712140 single base substitution G T intron_variant LIRI-JP X 27712601 27712601 single base substitution G A intron_variant LIRI-JP X 27713187 27713187 single base substitution G A intron_variant LIRI-JP X 27713273 27713273 single base substitution C T intron_variant LIRI-JP X 27713305 27713305 single base substitution T C intron_variant LIRI-JP X 27714692 27714692 single base substitution T A intron_variant LIRI-JP X 27714868 27714868 deletion of <=200bp T - intron_variant LIRI-JP X 27715341 27715341 single base substitution C T intron_variant LIRI-JP X 27716131 27716131 single base substitution A G intron_variant LIRI-JP X 27721169 27721169 single base substitution A G intron_variant LIRI-JP X 27723099 27723099 single base substitution G T intron_variant LIRI-JP X 27723729 27723729 single base substitution G T intron_variant LIRI-JP X 27724444 27724444 single base substitution A G intron_variant LIRI-JP X 27726390 27726390 single base substitution T A intron_variant LIRI-JP X 27726685 27726685 single base substitution T C intron_variant LIRI-JP X 27727832 27727832 single base substitution G C intron_variant LIRI-JP X 27730936 27730936 single base substitution G A downstream_gene_variant LIRI-JP X 27730936 27730936 single base substitution G A intron_variant LIRI-JP X 27731302 27731302 single base substitution G T downstream_gene_variant LIRI-JP X 27731302 27731302 single base substitution G T intron_variant LIRI-JP X 27734623 27734623 single base substitution T C downstream_gene_variant LIRI-JP X 27734623 27734623 single base substitution T C intron_variant LIRI-JP X 27734717 27734717 single base substitution C A downstream_gene_variant LIRI-JP X 27734717 27734717 single base substitution C A intron_variant LIRI-JP X 27735510 27735510 single base substitution T A downstream_gene_variant LIRI-JP X 27735510 27735510 single base substitution T A intron_variant LIRI-JP X 27736160 27736160 single base substitution A G intron_variant LIRI-JP X 27737091 27737091 single base substitution A G intron_variant LIRI-JP X 27737589 27737589 single base substitution C T intron_variant LIRI-JP X 27737922 27737922 single base substitution C T intron_variant LIRI-JP X 27739092 27739092 single base substitution T A intron_variant LIRI-JP X 27739251 27739251 single base substitution G A intron_variant LIRI-JP X 27739727 27739727 single base substitution A G intron_variant LIRI-JP X 27740897 27740897 single base substitution T C intron_variant LIRI-JP X 27741092 27741092 single base substitution A G intron_variant LIRI-JP X 27741956 27741956 single base substitution T C intron_variant LIRI-JP X 27742253 27742253 single base substitution A G intron_variant LIRI-JP X 27745141 27745141 single base substitution C A intron_variant LIRI-JP X 27745491 27745491 single base substitution G A intron_variant LIRI-JP X 27745868 27745868 single base substitution A G intron_variant LIRI-JP X 27746321 27746321 single base substitution T G intron_variant LIRI-JP X 27746992 27746992 single base substitution A G intron_variant LIRI-JP X 27747358 27747358 single base substitution C T intron_variant LIRI-JP X 27747691 27747691 single base substitution C T intron_variant LIRI-JP X 27748171 27748171 single base substitution G A intron_variant LIRI-JP X 27751138 27751138 single base substitution C A intron_variant LIRI-JP X 27751826 27751826 single base substitution A G intron_variant LIRI-JP X 27755373 27755373 single base substitution A G intron_variant LIRI-JP X 27756787 27756787 single base substitution A G intron_variant LIRI-JP X 27757618 27757618 single base substitution A G intron_variant LIRI-JP X 27760029 27760029 single base substitution A T intron_variant LIRI-JP X 27761358 27761358 single base substitution T C intron_variant LIRI-JP X 27763499 27763499 single base substitution G A intron_variant LIRI-JP X 27763993 27763993 single base substitution A G intron_variant LIRI-JP X 27767887 27767887 single base substitution T A downstream_gene_variant LIRI-JP X 27768208 27768208 single base substitution C A downstream_gene_variant LIRI-JP X 27769750 27769750 single base substitution A G downstream_gene_variant LIRI-JP X 27770289 27770289 insertion of <=200bp - G downstream_gene_variant LIRI-JP X 27770446 27770446 single base substitution T C downstream_gene_variant LUSC-KR X 27603583 27603583 single base substitution C A upstream_gene_variant LUSC-KR X 27604410 27604410 single base substitution T A upstream_gene_variant LUSC-KR X 27605189 27605189 single base substitution C T upstream_gene_variant LUSC-KR X 27608841 27608841 single base substitution G C intron_variant LUSC-KR X 27610961 27610961 single base substitution G C intron_variant LUSC-KR X 27611473 27611473 single base substitution G C intron_variant LUSC-KR X 27614029 27614029 single base substitution C A intron_variant LUSC-KR X 27617840 27617840 single base substitution T G intron_variant LUSC-KR X 27618351 27618351 single base substitution G C intron_variant LUSC-KR X 27619886 27619886 single base substitution G C intron_variant LUSC-KR X 27620342 27620342 single base substitution G T intron_variant LUSC-KR X 27620769 27620769 single base substitution G C intron_variant LUSC-KR X 27623308 27623308 single base substitution C G intron_variant LUSC-KR X 27623770 27623770 single base substitution A G intron_variant LUSC-KR X 27625569 27625569 single base substitution G C intron_variant LUSC-KR X 27625754 27625754 single base substitution C T intron_variant LUSC-KR X 27626691 27626691 single base substitution G T intron_variant LUSC-KR X 27627173 27627173 single base substitution T G intron_variant LUSC-KR X 27628042 27628042 single base substitution C A intron_variant LUSC-KR X 27628312 27628312 single base substitution C A intron_variant LUSC-KR X 27629066 27629066 single base substitution T A intron_variant LUSC-KR X 27630509 27630509 single base substitution G T intron_variant LUSC-KR X 27630510 27630510 single base substitution G T intron_variant LUSC-KR X 27632420 27632420 single base substitution C T intron_variant LUSC-KR X 27632500 27632500 single base substitution T A intron_variant LUSC-KR X 27633254 27633254 single base substitution C A intron_variant LUSC-KR X 27635460 27635460 single base substitution G A intron_variant LUSC-KR X 27637113 27637113 single base substitution C A intron_variant LUSC-KR X 27637970 27637970 single base substitution A T intron_variant LUSC-KR X 27640153 27640153 single base substitution G T intron_variant LUSC-KR X 27645772 27645772 single base substitution G T intron_variant LUSC-KR X 27646100 27646100 single base substitution A G intron_variant LUSC-KR X 27646663 27646663 single base substitution C T intron_variant LUSC-KR X 27648961 27648961 single base substitution G A intron_variant LUSC-KR X 27649293 27649293 single base substitution C A intron_variant LUSC-KR X 27653066 27653066 single base substitution C T downstream_gene_variant LUSC-KR X 27653066 27653066 single base substitution C T intron_variant LUSC-KR X 27655630 27655630 single base substitution C G downstream_gene_variant LUSC-KR X 27655630 27655630 single base substitution C G intron_variant LUSC-KR X 27655668 27655668 single base substitution C T downstream_gene_variant LUSC-KR X 27655668 27655668 single base substitution C T intron_variant LUSC-KR X 27659353 27659353 single base substitution G C intron_variant LUSC-KR X 27660646 27660646 single base substitution A T intron_variant LUSC-KR X 27660819 27660819 single base substitution A T intron_variant LUSC-KR X 27664149 27664149 single base substitution C A intron_variant LUSC-KR X 27665455 27665455 single base substitution T C intron_variant LUSC-KR X 27665730 27665730 single base substitution C A intron_variant LUSC-KR X 27666301 27666301 single base substitution T A intron_variant LUSC-KR X 27667023 27667023 single base substitution C A intron_variant LUSC-KR X 27668090 27668090 single base substitution G T intron_variant LUSC-KR X 27669350 27669350 single base substitution C T intron_variant LUSC-KR X 27671205 27671205 single base substitution G A intron_variant LUSC-KR X 27673857 27673857 single base substitution A T intron_variant LUSC-KR X 27675378 27675378 single base substitution G A intron_variant LUSC-KR X 27675937 27675937 single base substitution C T intron_variant LUSC-KR X 27676714 27676714 single base substitution G C intron_variant LUSC-KR X 27679829 27679829 single base substitution G A intron_variant LUSC-KR X 27680786 27680786 single base substitution C A intron_variant LUSC-KR X 27681394 27681394 single base substitution G A intron_variant LUSC-KR X 27682428 27682428 single base substitution C T intron_variant LUSC-KR X 27682521 27682521 single base substitution C G intron_variant LUSC-KR X 27683486 27683486 single base substitution G T intron_variant LUSC-KR X 27684092 27684092 single base substitution G T intron_variant LUSC-KR X 27686239 27686239 single base substitution C A intron_variant LUSC-KR X 27688638 27688638 single base substitution C T intron_variant LUSC-KR X 27690262 27690262 single base substitution A G intron_variant LUSC-KR X 27690633 27690633 single base substitution C T intron_variant LUSC-KR X 27692969 27692969 single base substitution C G intron_variant LUSC-KR X 27694077 27694077 single base substitution C T intron_variant LUSC-KR X 27697484 27697484 single base substitution G C intron_variant LUSC-KR X 27699300 27699300 single base substitution A G intron_variant LUSC-KR X 27701344 27701344 single base substitution C T intron_variant LUSC-KR X 27704913 27704913 single base substitution G T intron_variant LUSC-KR X 27705197 27705197 single base substitution C G intron_variant LUSC-KR X 27707595 27707595 single base substitution C T intron_variant LUSC-KR X 27708498 27708498 single base substitution C A intron_variant LUSC-KR X 27711893 27711893 single base substitution G T intron_variant LUSC-KR X 27713610 27713610 single base substitution A G intron_variant LUSC-KR X 27714779 27714779 single base substitution C T intron_variant LUSC-KR X 27717931 27717931 single base substitution G T intron_variant LUSC-KR X 27720037 27720037 single base substitution A G intron_variant LUSC-KR X 27721583 27721583 single base substitution C A intron_variant LUSC-KR X 27724162 27724162 single base substitution G T intron_variant LUSC-KR X 27724186 27724186 single base substitution G A intron_variant LUSC-KR X 27724565 27724565 single base substitution G C intron_variant LUSC-KR X 27727250 27727250 single base substitution C A intron_variant LUSC-KR X 27729192 27729192 single base substitution A T intron_variant LUSC-KR X 27730536 27730536 single base substitution C A intron_variant LUSC-KR X 27733097 27733097 single base substitution C T downstream_gene_variant LUSC-KR X 27733097 27733097 single base substitution C T intron_variant LUSC-KR X 27734066 27734066 single base substitution A T downstream_gene_variant LUSC-KR X 27734066 27734066 single base substitution A T intron_variant LUSC-KR X 27737779 27737779 single base substitution C A intron_variant LUSC-KR X 27738758 27738758 single base substitution G T intron_variant LUSC-KR X 27738775 27738775 single base substitution C A intron_variant LUSC-KR X 27742601 27742601 single base substitution T C intron_variant LUSC-KR X 27745365 27745365 single base substitution C A intron_variant LUSC-KR X 27748305 27748305 single base substitution G C intron_variant LUSC-KR X 27748802 27748802 single base substitution T C intron_variant LUSC-KR X 27751694 27751694 single base substitution T C intron_variant LUSC-KR X 27752050 27752050 single base substitution C T intron_variant LUSC-KR X 27756620 27756620 single base substitution A T intron_variant LUSC-KR X 27756959 27756959 single base substitution G C intron_variant LUSC-KR X 27759560 27759560 single base substitution G A intron_variant LUSC-KR X 27760944 27760944 single base substitution G A intron_variant LUSC-KR X 27763156 27763156 single base substitution G T intron_variant LUSC-KR X 27763703 27763703 single base substitution G T intron_variant LUSC-KR X 27764750 27764750 single base substitution G T intron_variant LUSC-KR X 27766630 27766630 single base substitution T A downstream_gene_variant LUSC-KR X 27766630 27766630 single base substitution T A missense_variant W540R 1618T>A LUSC-KR X 27768022 27768022 single base substitution C T downstream_gene_variant MALY-DE X 27603870 27603870 single base substitution G C upstream_gene_variant MALY-DE X 27603962 27603962 single base substitution A G upstream_gene_variant MALY-DE X 27604053 27604053 single base substitution A T upstream_gene_variant MALY-DE X 27604074 27604074 single base substitution A C upstream_gene_variant MALY-DE X 27605817 27605817 single base substitution G T upstream_gene_variant MALY-DE X 27605936 27605936 single base substitution T A upstream_gene_variant MALY-DE X 27606261 27606261 single base substitution T G upstream_gene_variant MALY-DE X 27606263 27606263 single base substitution G C upstream_gene_variant MALY-DE X 27608544 27608544 single base substitution G A 5_prime_UTR_variant MALY-DE X 27608544 27608544 single base substitution G A exon_variant MALY-DE X 27609265 27609265 single base substitution G A intron_variant MALY-DE X 27609360 27609360 single base substitution G A intron_variant MALY-DE X 27610524 27610524 single base substitution G C intron_variant MALY-DE X 27613082 27613082 single base substitution T G intron_variant MALY-DE X 27614018 27614018 single base substitution G A intron_variant MALY-DE X 27614962 27614962 single base substitution A G intron_variant MALY-DE X 27619349 27619349 single base substitution C A intron_variant MALY-DE X 27620415 27620415 single base substitution G A intron_variant MALY-DE X 27621981 27621981 single base substitution G T intron_variant MALY-DE X 27623880 27623880 single base substitution G A intron_variant MALY-DE X 27625161 27625161 insertion of <=200bp - A intron_variant MALY-DE X 27626579 27626579 single base substitution T G intron_variant MALY-DE X 27626769 27626769 insertion of <=200bp - T intron_variant MALY-DE X 27627143 27627143 single base substitution T G intron_variant MALY-DE X 27627333 27627333 single base substitution G A intron_variant MALY-DE X 27628515 27628516 deletion of <=200bp TG - intron_variant MALY-DE X 27629383 27629383 single base substitution A C intron_variant MALY-DE X 27629482 27629485 deletion of <=200bp ATAT - intron_variant MALY-DE X 27630267 27630273 deletion of <=200bp TGGTATC - intron_variant MALY-DE X 27633461 27633461 single base substitution T A intron_variant MALY-DE X 27635195 27635195 single base substitution G T intron_variant MALY-DE X 27636192 27636192 single base substitution A G intron_variant MALY-DE X 27641376 27641376 single base substitution C A intron_variant MALY-DE X 27641814 27641814 single base substitution A C intron_variant MALY-DE X 27645724 27645724 single base substitution T C intron_variant MALY-DE X 27645844 27645844 single base substitution C G intron_variant MALY-DE X 27646484 27646484 single base substitution A T intron_variant MALY-DE X 27647510 27647510 single base substitution A C intron_variant MALY-DE X 27648104 27648104 single base substitution T A intron_variant MALY-DE X 27649873 27649873 single base substitution T C intron_variant MALY-DE X 27649986 27649986 single base substitution T G intron_variant MALY-DE X 27651615 27651615 single base substitution G T exon_variant MALY-DE X 27651615 27651615 single base substitution G T intron_variant MALY-DE X 27652337 27652337 single base substitution T A downstream_gene_variant MALY-DE X 27652337 27652337 single base substitution T A intron_variant MALY-DE X 27652338 27652338 single base substitution A T downstream_gene_variant MALY-DE X 27652338 27652338 single base substitution A T intron_variant MALY-DE X 27652810 27652810 single base substitution C G downstream_gene_variant MALY-DE X 27652810 27652810 single base substitution C G intron_variant MALY-DE X 27653075 27653076 deletion of <=200bp AC - downstream_gene_variant MALY-DE X 27653075 27653076 deletion of <=200bp AC - intron_variant MALY-DE X 27656477 27656477 single base substitution G T downstream_gene_variant MALY-DE X 27656477 27656477 single base substitution G T intron_variant MALY-DE X 27656478 27656478 single base substitution A G downstream_gene_variant MALY-DE X 27656478 27656478 single base substitution A G intron_variant MALY-DE X 27657787 27657787 single base substitution T C intron_variant MALY-DE X 27660178 27660178 single base substitution T G intron_variant MALY-DE X 27662221 27662221 single base substitution A G intron_variant MALY-DE X 27662417 27662417 single base substitution C A intron_variant MALY-DE X 27662780 27662780 single base substitution A G intron_variant MALY-DE X 27662851 27662851 single base substitution A T intron_variant MALY-DE X 27663494 27663494 single base substitution G T intron_variant MALY-DE X 27663520 27663520 single base substitution T A intron_variant MALY-DE X 27664610 27664610 single base substitution C T intron_variant MALY-DE X 27665073 27665073 single base substitution T A intron_variant MALY-DE X 27666487 27666487 single base substitution A T intron_variant MALY-DE X 27670370 27670370 single base substitution T G intron_variant MALY-DE X 27673066 27673066 single base substitution C G intron_variant MALY-DE X 27676069 27676069 single base substitution G T intron_variant MALY-DE X 27677886 27677886 single base substitution C A intron_variant MALY-DE X 27678528 27678528 insertion of <=200bp - T intron_variant MALY-DE X 27679683 27679683 single base substitution T G intron_variant MALY-DE X 27679907 27679907 single base substitution T G intron_variant MALY-DE X 27680624 27680624 single base substitution A C intron_variant MALY-DE X 27682936 27682936 insertion of <=200bp - A intron_variant MALY-DE X 27684151 27684151 single base substitution A T intron_variant MALY-DE X 27684749 27684749 single base substitution A C intron_variant MALY-DE X 27685554 27685554 single base substitution A C intron_variant MALY-DE X 27686292 27686292 single base substitution G A intron_variant MALY-DE X 27686317 27686317 single base substitution A C intron_variant MALY-DE X 27686342 27686342 single base substitution C G intron_variant MALY-DE X 27688472 27688472 single base substitution C A intron_variant MALY-DE X 27690924 27690924 single base substitution A C intron_variant MALY-DE X 27691273 27691273 single base substitution T G intron_variant MALY-DE X 27693274 27693274 single base substitution G T intron_variant MALY-DE X 27694019 27694019 single base substitution G A intron_variant MALY-DE X 27694476 27694476 single base substitution T C intron_variant MALY-DE X 27694966 27694966 single base substitution A T intron_variant MALY-DE X 27695084 27695084 single base substitution T G exon_variant MALY-DE X 27695084 27695084 single base substitution T G intron_variant MALY-DE X 27695535 27695535 single base substitution A T intron_variant MALY-DE X 27695558 27695558 single base substitution T G intron_variant MALY-DE X 27695590 27695590 single base substitution A C intron_variant MALY-DE X 27696514 27696514 single base substitution C A intron_variant MALY-DE X 27697646 27697646 single base substitution A G intron_variant MALY-DE X 27699408 27699408 single base substitution A C intron_variant MALY-DE X 27700003 27700003 single base substitution T C intron_variant MALY-DE X 27700941 27700941 single base substitution T G intron_variant MALY-DE X 27702017 27702017 single base substitution T C intron_variant MALY-DE X 27706200 27706200 single base substitution A G intron_variant MALY-DE X 27706911 27706911 single base substitution T G intron_variant MALY-DE X 27708731 27708731 insertion of <=200bp - AA intron_variant MALY-DE X 27709105 27709105 insertion of <=200bp - T intron_variant MALY-DE X 27709389 27709389 single base substitution T C intron_variant MALY-DE X 27710417 27710417 single base substitution A T intron_variant MALY-DE X 27711000 27711000 single base substitution C T intron_variant MALY-DE X 27711164 27711164 single base substitution C G intron_variant MALY-DE X 27711176 27711176 single base substitution C T intron_variant MALY-DE X 27712034 27712034 single base substitution C A intron_variant MALY-DE X 27713004 27713004 single base substitution A G intron_variant MALY-DE X 27715170 27715170 single base substitution G T intron_variant MALY-DE X 27715468 27715468 single base substitution T C intron_variant MALY-DE X 27716133 27716133 insertion of <=200bp - T intron_variant MALY-DE X 27716681 27716681 single base substitution G C intron_variant MALY-DE X 27717151 27717151 single base substitution A T intron_variant MALY-DE X 27719686 27719686 single base substitution T C intron_variant MALY-DE X 27720739 27720739 single base substitution G A intron_variant MALY-DE X 27720914 27720914 single base substitution G C intron_variant MALY-DE X 27722250 27722250 single base substitution G C intron_variant MALY-DE X 27722272 27722273 deletion of <=200bp TA - intron_variant MALY-DE X 27722806 27722806 single base substitution G T intron_variant MALY-DE X 27723689 27723689 single base substitution G T intron_variant MALY-DE X 27724658 27724658 single base substitution C A intron_variant MALY-DE X 27724815 27724815 single base substitution C A intron_variant MALY-DE X 27728081 27728081 insertion of <=200bp - T intron_variant MALY-DE X 27728213 27728213 single base substitution T G intron_variant MALY-DE X 27728818 27728818 single base substitution T A intron_variant MALY-DE X 27729340 27729340 single base substitution A T intron_variant MALY-DE X 27731581 27731581 single base substitution T C downstream_gene_variant MALY-DE X 27731581 27731581 single base substitution T C intron_variant MALY-DE X 27732488 27732488 single base substitution T C downstream_gene_variant MALY-DE X 27732488 27732488 single base substitution T C intron_variant MALY-DE X 27732558 27732558 single base substitution A T downstream_gene_variant MALY-DE X 27732558 27732558 single base substitution A T intron_variant MALY-DE X 27732968 27732968 single base substitution C A downstream_gene_variant MALY-DE X 27732968 27732968 single base substitution C A intron_variant MALY-DE X 27732969 27732969 single base substitution C T downstream_gene_variant MALY-DE X 27732969 27732969 single base substitution C T intron_variant MALY-DE X 27734575 27734575 single base substitution C A downstream_gene_variant MALY-DE X 27734575 27734575 single base substitution C A intron_variant MALY-DE X 27737196 27737196 single base substitution G T intron_variant MALY-DE X 27738202 27738202 deletion of <=200bp T - intron_variant MALY-DE X 27738238 27738238 single base substitution T G intron_variant MALY-DE X 27742577 27742577 single base substitution G T intron_variant MALY-DE X 27742578 27742578 single base substitution G C intron_variant MALY-DE X 27743256 27743256 single base substitution G A intron_variant MALY-DE X 27750315 27750315 single base substitution C G intron_variant MALY-DE X 27750611 27750612 deletion of <=200bp GT - intron_variant MALY-DE X 27750990 27750990 single base substitution T G intron_variant MALY-DE X 27751550 27751550 single base substitution G A intron_variant MALY-DE X 27752103 27752103 deletion of <=200bp T - intron_variant MALY-DE X 27752870 27752870 single base substitution A T intron_variant MALY-DE X 27755705 27755705 single base substitution G A intron_variant MALY-DE X 27757114 27757114 single base substitution C T intron_variant MALY-DE X 27757223 27757223 deletion of <=200bp A - intron_variant MALY-DE X 27757516 27757516 single base substitution T G intron_variant MALY-DE X 27757562 27757562 single base substitution C A intron_variant MALY-DE X 27757914 27757914 single base substitution T G intron_variant MALY-DE X 27764559 27764559 single base substitution C G intron_variant MALY-DE X 27766007 27766007 single base substitution A G downstream_gene_variant MALY-DE X 27766007 27766007 single base substitution A G missense_variant Y332C 995A>G MALY-DE X 27767510 27767510 single base substitution A C downstream_gene_variant MALY-DE X 27768427 27768427 single base substitution A C downstream_gene_variant MALY-DE X 27769279 27769279 single base substitution C T downstream_gene_variant MALY-DE X 27769370 27769371 deletion of <=200bp AC - downstream_gene_variant MALY-DE X 27769524 27769524 single base substitution G T downstream_gene_variant MALY-DE X 27769606 27769606 single base substitution C A downstream_gene_variant MALY-DE X 27771165 27771165 single base substitution A G downstream_gene_variant MELA-AU X 27603698 27603698 single base substitution C A upstream_gene_variant MELA-AU X 27603844 27603844 single base substitution C T upstream_gene_variant MELA-AU X 27603957 27603957 single base substitution C T upstream_gene_variant MELA-AU X 27604079 27604079 single base substitution C T upstream_gene_variant MELA-AU X 27604177 27604177 single base substitution C T upstream_gene_variant MELA-AU X 27604213 27604213 single base substitution G A upstream_gene_variant MELA-AU X 27604641 27604641 single base substitution C T upstream_gene_variant MELA-AU X 27604821 27604821 single base substitution C T upstream_gene_variant MELA-AU X 27604870 27604870 single base substitution C T upstream_gene_variant MELA-AU X 27604893 27604893 single base substitution C T upstream_gene_variant MELA-AU X 27604964 27604964 single base substitution C T upstream_gene_variant MELA-AU X 27605008 27605008 single base substitution G A upstream_gene_variant MELA-AU X 27605069 27605069 single base substitution C T upstream_gene_variant MELA-AU X 27605545 27605545 single base substitution G A upstream_gene_variant MELA-AU X 27605751 27605751 single base substitution G A upstream_gene_variant MELA-AU X 27605754 27605754 single base substitution C T upstream_gene_variant MELA-AU X 27605978 27605978 single base substitution C T upstream_gene_variant MELA-AU X 27606357 27606357 single base substitution A T upstream_gene_variant MELA-AU X 27606358 27606358 single base substitution A T upstream_gene_variant MELA-AU X 27606671 27606671 single base substitution C T upstream_gene_variant MELA-AU X 27606858 27606858 single base substitution C G upstream_gene_variant MELA-AU X 27606916 27606916 single base substitution G A upstream_gene_variant MELA-AU X 27606936 27606936 single base substitution C T upstream_gene_variant MELA-AU X 27607110 27607110 single base substitution C T upstream_gene_variant MELA-AU X 27607315 27607315 single base substitution C T upstream_gene_variant MELA-AU X 27607372 27607372 single base substitution T C upstream_gene_variant MELA-AU X 27607414 27607414 single base substitution C T upstream_gene_variant MELA-AU X 27607422 27607422 single base substitution G A upstream_gene_variant MELA-AU X 27607492 27607492 single base substitution T A upstream_gene_variant MELA-AU X 27607755 27607755 single base substitution C T upstream_gene_variant MELA-AU X 27607934 27607934 single base substitution C T upstream_gene_variant MELA-AU X 27608197 27608197 single base substitution C T upstream_gene_variant MELA-AU X 27608238 27608238 single base substitution T A upstream_gene_variant MELA-AU X 27608478 27608478 single base substitution G A upstream_gene_variant MELA-AU X 27608883 27608883 single base substitution G A intron_variant MELA-AU X 27609272 27609272 single base substitution G A intron_variant MELA-AU X 27609750 27609750 single base substitution T G intron_variant MELA-AU X 27609899 27609899 single base substitution G A intron_variant MELA-AU X 27610044 27610044 single base substitution G A intron_variant MELA-AU X 27610389 27610389 single base substitution C T intron_variant MELA-AU X 27610403 27610403 single base substitution G A intron_variant MELA-AU X 27610645 27610645 single base substitution C T intron_variant MELA-AU X 27610964 27610964 single base substitution G A intron_variant MELA-AU X 27611447 27611447 single base substitution C T intron_variant MELA-AU X 27611550 27611550 single base substitution C T intron_variant MELA-AU X 27611739 27611739 single base substitution G A intron_variant MELA-AU X 27611748 27611748 single base substitution G A intron_variant MELA-AU X 27611880 27611880 single base substitution G A intron_variant MELA-AU X 27612067 27612067 single base substitution G T intron_variant MELA-AU X 27612129 27612129 single base substitution A G intron_variant MELA-AU X 27612395 27612395 single base substitution C T intron_variant MELA-AU X 27612465 27612465 single base substitution C T intron_variant MELA-AU X 27612499 27612499 single base substitution T C intron_variant MELA-AU X 27613045 27613045 single base substitution T C intron_variant MELA-AU X 27613151 27613151 single base substitution C T intron_variant MELA-AU X 27613229 27613229 single base substitution C T intron_variant MELA-AU X 27613511 27613511 single base substitution C T intron_variant MELA-AU X 27613566 27613566 single base substitution C T intron_variant MELA-AU X 27613643 27613643 single base substitution C T intron_variant MELA-AU X 27613853 27613853 single base substitution G A intron_variant MELA-AU X 27613952 27613952 single base substitution C T intron_variant MELA-AU X 27614061 27614061 single base substitution C T intron_variant MELA-AU X 27614338 27614338 single base substitution C T intron_variant MELA-AU X 27614449 27614449 single base substitution C T intron_variant MELA-AU X 27614611 27614611 single base substitution T C intron_variant MELA-AU X 27614988 27614988 single base substitution G A intron_variant MELA-AU X 27615157 27615157 single base substitution T C intron_variant MELA-AU X 27615163 27615163 single base substitution G A intron_variant MELA-AU X 27615293 27615293 single base substitution C T intron_variant MELA-AU X 27615513 27615513 single base substitution G T intron_variant MELA-AU X 27615525 27615525 single base substitution G A intron_variant MELA-AU X 27615615 27615615 single base substitution G T intron_variant MELA-AU X 27615721 27615721 single base substitution C G intron_variant MELA-AU X 27615809 27615809 single base substitution A C intron_variant MELA-AU X 27616128 27616128 single base substitution A G intron_variant MELA-AU X 27616253 27616253 single base substitution G A intron_variant MELA-AU X 27616331 27616331 single base substitution C T intron_variant MELA-AU X 27616393 27616393 single base substitution G A intron_variant MELA-AU X 27616843 27616843 single base substitution G A intron_variant MELA-AU X 27617320 27617320 single base substitution C T intron_variant MELA-AU X 27617905 27617905 single base substitution C A intron_variant MELA-AU X 27618453 27618453 single base substitution C T intron_variant MELA-AU X 27618679 27618679 single base substitution G A intron_variant MELA-AU X 27618742 27618742 single base substitution A T intron_variant MELA-AU X 27618797 27618797 single base substitution C T intron_variant MELA-AU X 27618909 27618909 single base substitution G A intron_variant MELA-AU X 27619014 27619014 single base substitution G A intron_variant MELA-AU X 27619276 27619276 single base substitution G A intron_variant MELA-AU X 27619277 27619277 single base substitution G A intron_variant MELA-AU X 27619385 27619385 single base substitution C T intron_variant MELA-AU X 27619426 27619426 single base substitution G A intron_variant MELA-AU X 27619822 27619822 single base substitution A T intron_variant MELA-AU X 27619930 27619930 single base substitution C T intron_variant MELA-AU X 27619943 27619943 single base substitution G A intron_variant MELA-AU X 27620025 27620025 single base substitution G A intron_variant MELA-AU X 27620112 27620112 single base substitution G A intron_variant MELA-AU X 27620142 27620142 single base substitution C T intron_variant MELA-AU X 27620350 27620350 single base substitution C T intron_variant MELA-AU X 27620503 27620503 single base substitution T G intron_variant MELA-AU X 27620583 27620583 single base substitution G A intron_variant MELA-AU X 27620623 27620623 single base substitution C T intron_variant MELA-AU X 27620805 27620805 single base substitution C T intron_variant MELA-AU X 27620887 27620887 single base substitution G A intron_variant MELA-AU X 27620905 27620905 single base substitution A T intron_variant MELA-AU X 27620965 27620965 single base substitution G A intron_variant MELA-AU X 27620966 27620966 single base substitution G A intron_variant MELA-AU X 27621244 27621244 single base substitution G A intron_variant MELA-AU X 27621267 27621267 single base substitution G A intron_variant MELA-AU X 27621485 27621485 single base substitution G T intron_variant MELA-AU X 27621494 27621494 single base substitution A G intron_variant MELA-AU X 27622100 27622100 single base substitution C T intron_variant MELA-AU X 27622257 27622257 single base substitution G A intron_variant MELA-AU X 27622514 27622514 single base substitution C T intron_variant MELA-AU X 27622891 27622891 single base substitution A G intron_variant MELA-AU X 27623132 27623132 single base substitution C T intron_variant MELA-AU X 27623327 27623327 single base substitution C T intron_variant MELA-AU X 27623429 27623429 single base substitution A G intron_variant MELA-AU X 27623470 27623470 single base substitution G A intron_variant MELA-AU X 27623530 27623530 single base substitution T C intron_variant MELA-AU X 27623678 27623678 single base substitution C T intron_variant MELA-AU X 27623786 27623786 single base substitution G A intron_variant MELA-AU X 27623945 27623945 single base substitution G A intron_variant MELA-AU X 27624057 27624057 single base substitution C T intron_variant MELA-AU X 27624115 27624115 single base substitution C T intron_variant MELA-AU X 27624255 27624255 single base substitution C T intron_variant MELA-AU X 27624404 27624404 single base substitution G A intron_variant MELA-AU X 27624708 27624708 single base substitution G A intron_variant MELA-AU X 27624945 27624945 single base substitution A G intron_variant MELA-AU X 27624955 27624955 single base substitution T G intron_variant MELA-AU X 27625016 27625016 single base substitution C T intron_variant MELA-AU X 27625045 27625045 single base substitution C T intron_variant MELA-AU X 27625062 27625062 single base substitution C T intron_variant MELA-AU X 27625090 27625091 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 27625289 27625289 single base substitution C A intron_variant MELA-AU X 27625371 27625371 single base substitution G A intron_variant MELA-AU X 27625473 27625473 single base substitution G A intron_variant MELA-AU X 27625516 27625516 single base substitution C T intron_variant MELA-AU X 27625524 27625524 single base substitution G A intron_variant MELA-AU X 27625561 27625561 single base substitution C T intron_variant MELA-AU X 27625762 27625762 single base substitution C T intron_variant MELA-AU X 27625806 27625806 single base substitution C T intron_variant MELA-AU X 27625902 27625902 single base substitution C T intron_variant MELA-AU X 27626040 27626040 single base substitution G A intron_variant MELA-AU X 27626159 27626159 single base substitution G A intron_variant MELA-AU X 27626371 27626371 single base substitution C T intron_variant MELA-AU X 27626663 27626663 single base substitution G A intron_variant MELA-AU X 27626784 27626784 single base substitution C T intron_variant MELA-AU X 27626838 27626838 single base substitution T C intron_variant MELA-AU X 27626856 27626856 single base substitution G A intron_variant MELA-AU X 27627086 27627086 single base substitution G A intron_variant MELA-AU X 27627093 27627093 single base substitution G A intron_variant MELA-AU X 27627235 27627235 single base substitution C T intron_variant MELA-AU X 27627332 27627332 single base substitution G A intron_variant MELA-AU X 27627423 27627423 single base substitution G A intron_variant MELA-AU X 27627424 27627424 single base substitution G A intron_variant MELA-AU X 27627550 27627550 single base substitution C T intron_variant MELA-AU X 27627928 27627928 single base substitution C A intron_variant MELA-AU X 27628307 27628307 single base substitution C T intron_variant MELA-AU X 27628338 27628338 single base substitution G A intron_variant MELA-AU X 27628395 27628395 single base substitution G A intron_variant MELA-AU X 27628576 27628576 single base substitution G A intron_variant MELA-AU X 27628651 27628651 single base substitution G A intron_variant MELA-AU X 27628996 27628996 single base substitution C T intron_variant MELA-AU X 27629108 27629108 single base substitution C T intron_variant MELA-AU X 27629307 27629307 single base substitution G A intron_variant MELA-AU X 27629721 27629721 single base substitution C T intron_variant MELA-AU X 27630119 27630119 single base substitution C T intron_variant MELA-AU X 27630208 27630208 single base substitution C T intron_variant MELA-AU X 27630573 27630573 single base substitution C T intron_variant MELA-AU X 27630656 27630656 single base substitution G A intron_variant MELA-AU X 27630662 27630662 single base substitution C T intron_variant MELA-AU X 27630718 27630718 single base substitution C T intron_variant MELA-AU X 27630719 27630719 single base substitution C T intron_variant MELA-AU X 27630807 27630807 single base substitution T C intron_variant MELA-AU X 27630822 27630822 single base substitution C T intron_variant MELA-AU X 27630928 27630928 single base substitution C T intron_variant MELA-AU X 27631063 27631063 single base substitution C T intron_variant MELA-AU X 27631091 27631091 single base substitution C T intron_variant MELA-AU X 27631188 27631188 single base substitution C T intron_variant MELA-AU X 27631457 27631457 single base substitution G A intron_variant MELA-AU X 27631787 27631787 single base substitution G A intron_variant MELA-AU X 27631791 27631791 single base substitution T G intron_variant MELA-AU X 27632045 27632045 single base substitution C A intron_variant MELA-AU X 27632106 27632106 single base substitution C T intron_variant MELA-AU X 27632211 27632211 single base substitution G A intron_variant MELA-AU X 27632454 27632454 single base substitution C T intron_variant MELA-AU X 27632602 27632602 single base substitution C T intron_variant MELA-AU X 27632624 27632624 single base substitution T C intron_variant MELA-AU X 27632721 27632721 single base substitution C T intron_variant MELA-AU X 27632922 27632922 single base substitution G C intron_variant MELA-AU X 27632986 27632986 single base substitution C T intron_variant MELA-AU X 27633016 27633016 single base substitution C T intron_variant MELA-AU X 27633260 27633260 single base substitution G A intron_variant MELA-AU X 27633280 27633280 single base substitution C T intron_variant MELA-AU X 27633281 27633281 single base substitution T C intron_variant MELA-AU X 27633287 27633287 single base substitution G A intron_variant MELA-AU X 27633398 27633398 single base substitution A G intron_variant MELA-AU X 27633513 27633513 single base substitution G A intron_variant MELA-AU X 27633711 27633711 single base substitution G A intron_variant MELA-AU X 27633731 27633731 single base substitution C T intron_variant MELA-AU X 27633746 27633746 single base substitution C T intron_variant MELA-AU X 27633892 27633892 single base substitution C T intron_variant MELA-AU X 27634008 27634008 single base substitution C T intron_variant MELA-AU X 27634270 27634270 single base substitution G A intron_variant MELA-AU X 27634514 27634514 single base substitution G A intron_variant MELA-AU X 27634656 27634656 single base substitution G A intron_variant MELA-AU X 27634771 27634771 single base substitution C T intron_variant MELA-AU X 27635023 27635023 single base substitution G A intron_variant MELA-AU X 27635078 27635078 single base substitution C T intron_variant MELA-AU X 27635174 27635174 single base substitution A T intron_variant MELA-AU X 27635203 27635203 single base substitution G C intron_variant MELA-AU X 27635375 27635375 single base substitution G A intron_variant MELA-AU X 27635392 27635392 single base substitution C T intron_variant MELA-AU X 27635949 27635949 single base substitution G A intron_variant MELA-AU X 27636207 27636207 single base substitution C T intron_variant MELA-AU X 27636493 27636493 single base substitution G A intron_variant MELA-AU X 27636520 27636520 single base substitution T C intron_variant MELA-AU X 27636911 27636911 single base substitution G A intron_variant MELA-AU X 27637247 27637247 single base substitution G A intron_variant MELA-AU X 27637484 27637484 single base substitution G T intron_variant MELA-AU X 27637609 27637609 single base substitution T A intron_variant MELA-AU X 27637917 27637917 single base substitution G A intron_variant MELA-AU X 27637991 27637991 single base substitution A T intron_variant MELA-AU X 27638061 27638061 single base substitution G A intron_variant MELA-AU X 27638114 27638114 single base substitution G A intron_variant MELA-AU X 27638483 27638483 single base substitution G A intron_variant MELA-AU X 27638731 27638731 single base substitution G A intron_variant MELA-AU X 27638780 27638780 single base substitution G A intron_variant MELA-AU X 27638935 27638935 single base substitution T A intron_variant MELA-AU X 27639035 27639035 single base substitution A C intron_variant MELA-AU X 27639115 27639115 single base substitution A T intron_variant MELA-AU X 27639280 27639280 single base substitution G A intron_variant MELA-AU X 27639534 27639534 single base substitution G A intron_variant MELA-AU X 27639571 27639571 single base substitution T G intron_variant MELA-AU X 27639613 27639613 single base substitution C T intron_variant MELA-AU X 27639814 27639814 single base substitution C A intron_variant MELA-AU X 27640212 27640212 single base substitution C T intron_variant MELA-AU X 27640313 27640313 single base substitution G A intron_variant MELA-AU X 27640338 27640338 single base substitution G A intron_variant MELA-AU X 27640496 27640496 single base substitution C T intron_variant MELA-AU X 27641134 27641134 single base substitution G A intron_variant MELA-AU X 27641157 27641157 single base substitution G A intron_variant MELA-AU X 27641334 27641334 single base substitution C G intron_variant MELA-AU X 27641371 27641371 single base substitution A G intron_variant MELA-AU X 27641426 27641426 single base substitution G A intron_variant MELA-AU X 27641546 27641546 single base substitution G A intron_variant MELA-AU X 27641630 27641630 single base substitution C T intron_variant MELA-AU X 27641751 27641751 single base substitution A G intron_variant MELA-AU X 27641780 27641780 single base substitution G A intron_variant MELA-AU X 27641940 27641940 single base substitution T A intron_variant MELA-AU X 27642132 27642132 single base substitution G A intron_variant MELA-AU X 27642206 27642206 single base substitution G A intron_variant MELA-AU X 27642427 27642427 single base substitution G A intron_variant MELA-AU X 27642835 27642835 single base substitution G A intron_variant MELA-AU X 27642866 27642866 single base substitution C T intron_variant MELA-AU X 27642880 27642880 single base substitution C T intron_variant MELA-AU X 27643176 27643176 single base substitution A G intron_variant MELA-AU X 27643492 27643492 single base substitution G A intron_variant MELA-AU X 27643865 27643865 single base substitution C T intron_variant MELA-AU X 27644054 27644054 single base substitution A T intron_variant MELA-AU X 27644359 27644359 single base substitution G A intron_variant MELA-AU X 27644369 27644369 single base substitution G A intron_variant MELA-AU X 27644438 27644438 single base substitution C T intron_variant MELA-AU X 27644526 27644526 single base substitution G A intron_variant MELA-AU X 27644530 27644530 single base substitution C T intron_variant MELA-AU X 27644944 27644944 single base substitution G A intron_variant MELA-AU X 27644964 27644964 single base substitution G T intron_variant MELA-AU X 27645118 27645118 single base substitution C T intron_variant MELA-AU X 27645773 27645773 single base substitution G A intron_variant MELA-AU X 27645802 27645802 single base substitution G A intron_variant MELA-AU X 27645829 27645829 single base substitution G A intron_variant MELA-AU X 27645895 27645895 single base substitution C T intron_variant MELA-AU X 27646037 27646037 single base substitution C T intron_variant MELA-AU X 27646112 27646112 single base substitution C T intron_variant MELA-AU X 27646250 27646250 single base substitution C T intron_variant MELA-AU X 27646548 27646548 single base substitution C T intron_variant MELA-AU X 27646596 27646596 single base substitution C T intron_variant MELA-AU X 27647025 27647025 single base substitution C T intron_variant MELA-AU X 27647050 27647050 single base substitution C T intron_variant MELA-AU X 27647073 27647073 single base substitution C T intron_variant MELA-AU X 27647104 27647104 single base substitution C T intron_variant MELA-AU X 27647418 27647418 single base substitution C A intron_variant MELA-AU X 27647454 27647454 single base substitution C T intron_variant MELA-AU X 27647468 27647468 single base substitution C T intron_variant MELA-AU X 27647523 27647523 single base substitution C T intron_variant MELA-AU X 27647604 27647604 single base substitution C T intron_variant MELA-AU X 27647628 27647628 single base substitution T G intron_variant MELA-AU X 27647634 27647634 single base substitution C T intron_variant MELA-AU X 27647663 27647663 single base substitution C T intron_variant MELA-AU X 27647672 27647672 single base substitution C T intron_variant MELA-AU X 27647717 27647717 single base substitution C T intron_variant MELA-AU X 27647930 27647930 single base substitution G A intron_variant MELA-AU X 27647948 27647948 single base substitution C T intron_variant MELA-AU X 27647949 27647949 single base substitution C T intron_variant MELA-AU X 27647974 27647974 single base substitution G A intron_variant MELA-AU X 27648130 27648130 single base substitution C T intron_variant MELA-AU X 27648139 27648139 single base substitution C T intron_variant MELA-AU X 27648360 27648360 single base substitution G A intron_variant MELA-AU X 27648389 27648389 single base substitution G A intron_variant MELA-AU X 27648405 27648405 single base substitution C T intron_variant MELA-AU X 27648452 27648452 single base substitution C G intron_variant MELA-AU X 27648580 27648580 single base substitution C T intron_variant MELA-AU X 27648731 27648731 single base substitution C T intron_variant MELA-AU X 27648900 27648900 single base substitution G A intron_variant MELA-AU X 27648952 27648952 single base substitution C T intron_variant MELA-AU X 27648985 27648985 single base substitution C T intron_variant MELA-AU X 27649244 27649244 single base substitution G A intron_variant MELA-AU X 27649262 27649262 single base substitution C T intron_variant MELA-AU X 27649460 27649460 single base substitution G A intron_variant MELA-AU X 27649523 27649523 single base substitution G A intron_variant MELA-AU X 27649640 27649640 single base substitution G A intron_variant MELA-AU X 27649758 27649758 single base substitution G A intron_variant MELA-AU X 27649911 27649911 single base substitution C T intron_variant MELA-AU X 27650075 27650075 single base substitution C T 5_prime_UTR_variant MELA-AU X 27650075 27650075 single base substitution C T exon_variant MELA-AU X 27650097 27650097 single base substitution C T 5_prime_UTR_variant MELA-AU X 27650097 27650097 single base substitution C T exon_variant MELA-AU X 27650127 27650127 single base substitution G A exon_variant MELA-AU X 27650127 27650127 single base substitution G A intron_variant MELA-AU X 27650223 27650223 single base substitution C T exon_variant MELA-AU X 27650223 27650223 single base substitution C T intron_variant MELA-AU X 27650281 27650281 single base substitution C T exon_variant MELA-AU X 27650281 27650281 single base substitution C T intron_variant MELA-AU X 27650316 27650317 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU X 27650316 27650317 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 27650330 27650330 single base substitution C T exon_variant MELA-AU X 27650330 27650330 single base substitution C T intron_variant MELA-AU X 27650375 27650375 single base substitution G A exon_variant MELA-AU X 27650375 27650375 single base substitution G A intron_variant MELA-AU X 27650434 27650434 single base substitution C T exon_variant MELA-AU X 27650434 27650434 single base substitution C T intron_variant MELA-AU X 27650492 27650492 single base substitution C T exon_variant MELA-AU X 27650492 27650492 single base substitution C T intron_variant MELA-AU X 27650535 27650535 single base substitution G C exon_variant MELA-AU X 27650535 27650535 single base substitution G C intron_variant MELA-AU X 27650596 27650596 single base substitution C T exon_variant MELA-AU X 27650596 27650596 single base substitution C T intron_variant MELA-AU X 27650729 27650729 single base substitution C A exon_variant MELA-AU X 27650729 27650729 single base substitution C A intron_variant MELA-AU X 27650908 27650908 single base substitution C T exon_variant MELA-AU X 27650908 27650908 single base substitution C T intron_variant MELA-AU X 27650939 27650939 single base substitution A G exon_variant MELA-AU X 27650939 27650939 single base substitution A G intron_variant MELA-AU X 27650950 27650950 single base substitution C T exon_variant MELA-AU X 27650950 27650950 single base substitution C T intron_variant MELA-AU X 27650973 27650973 single base substitution T A exon_variant MELA-AU X 27650973 27650973 single base substitution T A intron_variant MELA-AU X 27651015 27651015 single base substitution G A exon_variant MELA-AU X 27651015 27651015 single base substitution G A intron_variant MELA-AU X 27651054 27651054 single base substitution C T exon_variant MELA-AU X 27651054 27651054 single base substitution C T intron_variant MELA-AU X 27651074 27651074 single base substitution C T exon_variant MELA-AU X 27651074 27651074 single base substitution C T intron_variant MELA-AU X 27651263 27651263 single base substitution A G exon_variant MELA-AU X 27651263 27651263 single base substitution A G intron_variant MELA-AU X 27651292 27651292 single base substitution A G exon_variant MELA-AU X 27651292 27651292 single base substitution A G intron_variant MELA-AU X 27651349 27651349 single base substitution C T exon_variant MELA-AU X 27651349 27651349 single base substitution C T intron_variant MELA-AU X 27651379 27651379 single base substitution G A exon_variant MELA-AU X 27651379 27651379 single base substitution G A intron_variant MELA-AU X 27651633 27651633 single base substitution G A exon_variant MELA-AU X 27651633 27651633 single base substitution G A intron_variant MELA-AU X 27651642 27651642 single base substitution T G exon_variant MELA-AU X 27651642 27651642 single base substitution T G intron_variant MELA-AU X 27651646 27651646 single base substitution C T exon_variant MELA-AU X 27651646 27651646 single base substitution C T intron_variant MELA-AU X 27651720 27651720 single base substitution C T exon_variant MELA-AU X 27651720 27651720 single base substitution C T intron_variant MELA-AU X 27651779 27651779 single base substitution G A exon_variant MELA-AU X 27651779 27651779 single base substitution G A intron_variant MELA-AU X 27651784 27651784 single base substitution A T exon_variant MELA-AU X 27651784 27651784 single base substitution A T intron_variant MELA-AU X 27651832 27651832 single base substitution C T exon_variant MELA-AU X 27651832 27651832 single base substitution C T intron_variant MELA-AU X 27651883 27651883 single base substitution C T exon_variant MELA-AU X 27651883 27651883 single base substitution C T intron_variant MELA-AU X 27651980 27651980 single base substitution C T downstream_gene_variant MELA-AU X 27651980 27651980 single base substitution C T intron_variant MELA-AU X 27651999 27651999 single base substitution A C downstream_gene_variant MELA-AU X 27651999 27651999 single base substitution A C intron_variant MELA-AU X 27652017 27652017 single base substitution C T downstream_gene_variant MELA-AU X 27652017 27652017 single base substitution C T intron_variant MELA-AU X 27652066 27652066 single base substitution C T downstream_gene_variant MELA-AU X 27652066 27652066 single base substitution C T intron_variant MELA-AU X 27652664 27652664 single base substitution G A downstream_gene_variant MELA-AU X 27652664 27652664 single base substitution G A intron_variant MELA-AU X 27652872 27652872 single base substitution G A downstream_gene_variant MELA-AU X 27652872 27652872 single base substitution G A intron_variant MELA-AU X 27652882 27652882 single base substitution C T downstream_gene_variant MELA-AU X 27652882 27652882 single base substitution C T intron_variant MELA-AU X 27653046 27653046 single base substitution C T downstream_gene_variant MELA-AU X 27653046 27653046 single base substitution C T intron_variant MELA-AU X 27653350 27653350 single base substitution T C downstream_gene_variant MELA-AU X 27653350 27653350 single base substitution T C intron_variant MELA-AU X 27653490 27653490 single base substitution G A downstream_gene_variant MELA-AU X 27653490 27653490 single base substitution G A intron_variant MELA-AU X 27653599 27653599 single base substitution C T downstream_gene_variant MELA-AU X 27653599 27653599 single base substitution C T intron_variant MELA-AU X 27653649 27653649 single base substitution C A downstream_gene_variant MELA-AU X 27653649 27653649 single base substitution C A intron_variant MELA-AU X 27653721 27653722 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU X 27653721 27653722 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU X 27653896 27653896 single base substitution C T downstream_gene_variant MELA-AU X 27653896 27653896 single base substitution C T intron_variant MELA-AU X 27654168 27654168 single base substitution G A downstream_gene_variant MELA-AU X 27654168 27654168 single base substitution G A intron_variant MELA-AU X 27654204 27654204 single base substitution G A downstream_gene_variant MELA-AU X 27654204 27654204 single base substitution G A intron_variant MELA-AU X 27654211 27654211 single base substitution G A downstream_gene_variant MELA-AU X 27654211 27654211 single base substitution G A intron_variant MELA-AU X 27654332 27654332 single base substitution C T downstream_gene_variant MELA-AU X 27654332 27654332 single base substitution C T intron_variant MELA-AU X 27654382 27654382 single base substitution C T downstream_gene_variant MELA-AU X 27654382 27654382 single base substitution C T intron_variant MELA-AU X 27654668 27654668 single base substitution G C downstream_gene_variant MELA-AU X 27654668 27654668 single base substitution G C intron_variant MELA-AU X 27654683 27654683 single base substitution G A downstream_gene_variant MELA-AU X 27654683 27654683 single base substitution G A intron_variant MELA-AU X 27654858 27654858 single base substitution G A downstream_gene_variant MELA-AU X 27654858 27654858 single base substitution G A intron_variant MELA-AU X 27654997 27654997 single base substitution C T downstream_gene_variant MELA-AU X 27654997 27654997 single base substitution C T intron_variant MELA-AU X 27655003 27655003 single base substitution C T downstream_gene_variant MELA-AU X 27655003 27655003 single base substitution C T intron_variant MELA-AU X 27655004 27655004 single base substitution C T downstream_gene_variant MELA-AU X 27655004 27655004 single base substitution C T intron_variant MELA-AU X 27655092 27655092 single base substitution G A downstream_gene_variant MELA-AU X 27655092 27655092 single base substitution G A intron_variant MELA-AU X 27655170 27655170 single base substitution G A downstream_gene_variant MELA-AU X 27655170 27655170 single base substitution G A intron_variant MELA-AU X 27655283 27655283 single base substitution C T downstream_gene_variant MELA-AU X 27655283 27655283 single base substitution C T intron_variant MELA-AU X 27655526 27655526 single base substitution C T downstream_gene_variant MELA-AU X 27655526 27655526 single base substitution C T intron_variant MELA-AU X 27655650 27655650 single base substitution C T downstream_gene_variant MELA-AU X 27655650 27655650 single base substitution C T intron_variant MELA-AU X 27655899 27655899 single base substitution C T downstream_gene_variant MELA-AU X 27655899 27655899 single base substitution C T intron_variant MELA-AU X 27656029 27656029 single base substitution C T downstream_gene_variant MELA-AU X 27656029 27656029 single base substitution C T intron_variant MELA-AU X 27656115 27656115 single base substitution G A downstream_gene_variant MELA-AU X 27656115 27656115 single base substitution G A intron_variant MELA-AU X 27656119 27656119 single base substitution G A downstream_gene_variant MELA-AU X 27656119 27656119 single base substitution G A intron_variant MELA-AU X 27656177 27656177 single base substitution G A downstream_gene_variant MELA-AU X 27656177 27656177 single base substitution G A intron_variant MELA-AU X 27656371 27656371 single base substitution G A downstream_gene_variant MELA-AU X 27656371 27656371 single base substitution G A intron_variant MELA-AU X 27656445 27656445 single base substitution C T downstream_gene_variant MELA-AU X 27656445 27656445 single base substitution C T intron_variant MELA-AU X 27656592 27656592 single base substitution G A downstream_gene_variant MELA-AU X 27656592 27656592 single base substitution G A intron_variant MELA-AU X 27656676 27656676 single base substitution T C downstream_gene_variant MELA-AU X 27656676 27656676 single base substitution T C intron_variant MELA-AU X 27656818 27656818 single base substitution G A downstream_gene_variant MELA-AU X 27656818 27656818 single base substitution G A intron_variant MELA-AU X 27657175 27657175 single base substitution C T intron_variant MELA-AU X 27657452 27657452 single base substitution C T intron_variant MELA-AU X 27657558 27657558 single base substitution G A intron_variant MELA-AU X 27657672 27657672 single base substitution C T intron_variant MELA-AU X 27657730 27657730 single base substitution G T intron_variant MELA-AU X 27657767 27657767 single base substitution G A intron_variant MELA-AU X 27658261 27658261 single base substitution C T intron_variant MELA-AU X 27658457 27658457 single base substitution G A intron_variant MELA-AU X 27658694 27658694 single base substitution C T intron_variant MELA-AU X 27658959 27658959 deletion of <=200bp A - intron_variant MELA-AU X 27658990 27658990 single base substitution C T intron_variant MELA-AU X 27659019 27659019 single base substitution G A intron_variant MELA-AU X 27659024 27659024 single base substitution T A intron_variant MELA-AU X 27659441 27659441 single base substitution G A intron_variant MELA-AU X 27659465 27659465 single base substitution A G intron_variant MELA-AU X 27659497 27659497 single base substitution G A intron_variant MELA-AU X 27659712 27659712 single base substitution C T intron_variant MELA-AU X 27659875 27659875 single base substitution C T intron_variant MELA-AU X 27659880 27659880 single base substitution C T intron_variant MELA-AU X 27659884 27659884 single base substitution C T intron_variant MELA-AU X 27660018 27660018 single base substitution T G intron_variant MELA-AU X 27660167 27660167 single base substitution G A intron_variant MELA-AU X 27660299 27660299 single base substitution C T intron_variant MELA-AU X 27660932 27660932 single base substitution C T intron_variant MELA-AU X 27660991 27660991 single base substitution G A intron_variant MELA-AU X 27661030 27661030 single base substitution C A intron_variant MELA-AU X 27661220 27661220 single base substitution G A intron_variant MELA-AU X 27661236 27661236 single base substitution G A intron_variant MELA-AU X 27661433 27661433 single base substitution C T intron_variant MELA-AU X 27661533 27661533 single base substitution A T intron_variant MELA-AU X 27661614 27661614 single base substitution A C intron_variant MELA-AU X 27661782 27661782 single base substitution G A intron_variant MELA-AU X 27662029 27662029 single base substitution C T intron_variant MELA-AU X 27662071 27662071 single base substitution C T intron_variant MELA-AU X 27662089 27662089 single base substitution C T intron_variant MELA-AU X 27662206 27662206 single base substitution G A intron_variant MELA-AU X 27662400 27662400 single base substitution C T intron_variant MELA-AU X 27662549 27662549 single base substitution G A intron_variant MELA-AU X 27662559 27662559 single base substitution C T intron_variant MELA-AU X 27662562 27662562 single base substitution C T intron_variant MELA-AU X 27662648 27662648 single base substitution G A intron_variant MELA-AU X 27662966 27662966 single base substitution G A intron_variant MELA-AU X 27663090 27663090 single base substitution G A intron_variant MELA-AU X 27663126 27663126 single base substitution G A intron_variant MELA-AU X 27663186 27663186 single base substitution A C intron_variant MELA-AU X 27663275 27663275 single base substitution G A intron_variant MELA-AU X 27663283 27663283 single base substitution C T intron_variant MELA-AU X 27663420 27663420 single base substitution G A intron_variant MELA-AU X 27663611 27663611 single base substitution G A intron_variant MELA-AU X 27663636 27663636 single base substitution C T intron_variant MELA-AU X 27663695 27663695 single base substitution A G intron_variant MELA-AU X 27663734 27663734 single base substitution G A intron_variant MELA-AU X 27663807 27663807 single base substitution C T intron_variant MELA-AU X 27663960 27663960 single base substitution G A intron_variant MELA-AU X 27664027 27664027 single base substitution C T intron_variant MELA-AU X 27664137 27664137 single base substitution C T intron_variant MELA-AU X 27664190 27664190 single base substitution C T intron_variant MELA-AU X 27664196 27664196 single base substitution G A intron_variant MELA-AU X 27664314 27664314 single base substitution T C intron_variant MELA-AU X 27664351 27664351 single base substitution G A intron_variant MELA-AU X 27664434 27664434 single base substitution G A intron_variant MELA-AU X 27664714 27664714 single base substitution G A intron_variant MELA-AU X 27664779 27664779 single base substitution G A intron_variant MELA-AU X 27664795 27664795 single base substitution C T intron_variant MELA-AU X 27664886 27664886 single base substitution C T intron_variant MELA-AU X 27665158 27665158 single base substitution C T intron_variant MELA-AU X 27665291 27665291 single base substitution G T intron_variant MELA-AU X 27665464 27665464 single base substitution G A intron_variant MELA-AU X 27665494 27665494 single base substitution G A intron_variant MELA-AU X 27665656 27665656 single base substitution C T intron_variant MELA-AU X 27665720 27665720 single base substitution C T intron_variant MELA-AU X 27665723 27665723 single base substitution T A intron_variant MELA-AU X 27665765 27665765 single base substitution G A intron_variant MELA-AU X 27665775 27665775 single base substitution G A intron_variant MELA-AU X 27665783 27665783 single base substitution G A intron_variant MELA-AU X 27665814 27665814 single base substitution G A intron_variant MELA-AU X 27666032 27666032 single base substitution T A intron_variant MELA-AU X 27666050 27666050 single base substitution C T intron_variant MELA-AU X 27666504 27666504 single base substitution C T intron_variant MELA-AU X 27666550 27666550 single base substitution G A intron_variant MELA-AU X 27666739 27666739 single base substitution A G intron_variant MELA-AU X 27666797 27666797 single base substitution C T intron_variant MELA-AU X 27666846 27666846 single base substitution C T intron_variant MELA-AU X 27666901 27666901 single base substitution A T intron_variant MELA-AU X 27667455 27667455 single base substitution A C intron_variant MELA-AU X 27667630 27667630 single base substitution G A intron_variant MELA-AU X 27667802 27667802 single base substitution G A intron_variant MELA-AU X 27667817 27667817 single base substitution G A intron_variant MELA-AU X 27667911 27667911 single base substitution C T intron_variant MELA-AU X 27668112 27668112 single base substitution G A intron_variant MELA-AU X 27668370 27668370 single base substitution C T intron_variant MELA-AU X 27668402 27668402 single base substitution T A intron_variant MELA-AU X 27668415 27668415 single base substitution G A intron_variant MELA-AU X 27668632 27668632 single base substitution C T intron_variant MELA-AU X 27668774 27668774 single base substitution G A intron_variant MELA-AU X 27668830 27668830 single base substitution C T intron_variant MELA-AU X 27668843 27668843 single base substitution C T intron_variant MELA-AU X 27669084 27669084 single base substitution C T intron_variant MELA-AU X 27669175 27669175 single base substitution G A intron_variant MELA-AU X 27669233 27669233 single base substitution G A intron_variant MELA-AU X 27669402 27669402 single base substitution G A intron_variant MELA-AU X 27669502 27669502 single base substitution T A intron_variant MELA-AU X 27669607 27669607 single base substitution G A intron_variant MELA-AU X 27669780 27669780 single base substitution A T intron_variant MELA-AU X 27669788 27669788 single base substitution C T intron_variant MELA-AU X 27669878 27669878 single base substitution C T intron_variant MELA-AU X 27669897 27669897 single base substitution G A intron_variant MELA-AU X 27669953 27669953 single base substitution G A intron_variant MELA-AU X 27670069 27670069 single base substitution T G intron_variant MELA-AU X 27670155 27670155 single base substitution G A intron_variant MELA-AU X 27670396 27670396 single base substitution G A intron_variant MELA-AU X 27670445 27670455 deletion of <=200bp TGTCTGTTATT - intron_variant MELA-AU X 27670448 27670448 single base substitution C T intron_variant MELA-AU X 27670590 27670590 single base substitution G A intron_variant MELA-AU X 27670669 27670669 single base substitution G A intron_variant MELA-AU X 27670706 27670707 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU X 27670759 27670759 single base substitution C T intron_variant MELA-AU X 27670815 27670815 single base substitution G A intron_variant MELA-AU X 27671789 27671789 single base substitution T A intron_variant MELA-AU X 27671916 27671916 single base substitution C T intron_variant MELA-AU X 27672013 27672013 single base substitution T G intron_variant MELA-AU X 27672138 27672138 single base substitution C T intron_variant MELA-AU X 27672333 27672333 single base substitution G A intron_variant MELA-AU X 27672793 27672793 single base substitution G A intron_variant MELA-AU X 27672893 27672893 single base substitution T A intron_variant MELA-AU X 27672946 27672946 single base substitution A T intron_variant MELA-AU X 27672966 27672966 single base substitution G A intron_variant MELA-AU X 27673004 27673004 single base substitution A T intron_variant MELA-AU X 27673211 27673211 single base substitution G A intron_variant MELA-AU X 27673212 27673212 single base substitution G A intron_variant MELA-AU X 27673414 27673414 single base substitution G A intron_variant MELA-AU X 27673467 27673467 single base substitution A G intron_variant MELA-AU X 27673504 27673504 single base substitution C T intron_variant MELA-AU X 27673658 27673658 single base substitution G A intron_variant MELA-AU X 27674023 27674023 single base substitution C T intron_variant MELA-AU X 27674146 27674146 single base substitution G A intron_variant MELA-AU X 27674320 27674320 single base substitution C T intron_variant MELA-AU X 27674591 27674591 single base substitution C T intron_variant MELA-AU X 27674718 27674718 single base substitution C T intron_variant MELA-AU X 27674772 27674772 single base substitution G A intron_variant MELA-AU X 27674934 27674934 single base substitution G A intron_variant MELA-AU X 27674950 27674950 single base substitution C T intron_variant MELA-AU X 27675042 27675042 single base substitution G A intron_variant MELA-AU X 27675098 27675098 single base substitution G A intron_variant MELA-AU X 27675258 27675258 single base substitution G A intron_variant MELA-AU X 27675297 27675297 single base substitution C T intron_variant MELA-AU X 27675324 27675324 single base substitution C T intron_variant MELA-AU X 27675338 27675338 single base substitution C T intron_variant MELA-AU X 27675715 27675715 single base substitution G A intron_variant MELA-AU X 27675871 27675871 single base substitution C T intron_variant MELA-AU X 27675896 27675896 single base substitution T G intron_variant MELA-AU X 27675928 27675928 single base substitution C T intron_variant MELA-AU X 27676036 27676036 single base substitution C A intron_variant MELA-AU X 27676446 27676446 single base substitution C T intron_variant MELA-AU X 27676734 27676734 single base substitution G A intron_variant MELA-AU X 27676773 27676773 single base substitution G A intron_variant MELA-AU X 27676965 27676965 single base substitution C T intron_variant MELA-AU X 27677356 27677356 single base substitution T A intron_variant MELA-AU X 27677484 27677484 single base substitution G A intron_variant MELA-AU X 27677503 27677503 single base substitution G A intron_variant MELA-AU X 27677671 27677671 single base substitution G A intron_variant MELA-AU X 27677703 27677703 single base substitution C T intron_variant MELA-AU X 27677850 27677851 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU X 27677969 27677969 single base substitution C T intron_variant MELA-AU X 27678047 27678047 single base substitution C T intron_variant MELA-AU X 27678310 27678310 single base substitution T A intron_variant MELA-AU X 27678616 27678616 single base substitution G A intron_variant MELA-AU X 27678621 27678621 single base substitution C T intron_variant MELA-AU X 27678641 27678641 single base substitution G A intron_variant MELA-AU X 27678680 27678680 single base substitution C T intron_variant MELA-AU X 27678699 27678699 single base substitution G A intron_variant MELA-AU X 27678776 27678776 single base substitution G A intron_variant MELA-AU X 27679136 27679136 single base substitution C T intron_variant MELA-AU X 27679215 27679215 single base substitution G A intron_variant MELA-AU X 27679420 27679420 single base substitution C T intron_variant MELA-AU X 27679652 27679652 single base substitution T G intron_variant MELA-AU X 27679741 27679741 single base substitution G A intron_variant MELA-AU X 27679788 27679788 single base substitution G A intron_variant MELA-AU X 27679845 27679845 single base substitution C T intron_variant MELA-AU X 27679862 27679862 single base substitution G A intron_variant MELA-AU X 27680018 27680018 single base substitution G A intron_variant MELA-AU X 27680087 27680087 single base substitution G T intron_variant MELA-AU X 27680089 27680089 single base substitution G A intron_variant MELA-AU X 27680118 27680118 single base substitution G A intron_variant MELA-AU X 27680212 27680212 single base substitution G A intron_variant MELA-AU X 27680227 27680227 single base substitution C T intron_variant MELA-AU X 27680373 27680373 single base substitution G A intron_variant MELA-AU X 27680413 27680413 single base substitution C T intron_variant MELA-AU X 27680440 27680440 single base substitution G A intron_variant MELA-AU X 27680486 27680486 single base substitution C T intron_variant MELA-AU X 27680681 27680681 single base substitution G A intron_variant MELA-AU X 27680762 27680762 single base substitution C T intron_variant MELA-AU X 27680796 27680796 single base substitution C T intron_variant MELA-AU X 27680860 27680860 single base substitution G A intron_variant MELA-AU X 27680905 27680905 single base substitution G A intron_variant MELA-AU X 27680951 27680951 single base substitution G A intron_variant MELA-AU X 27680992 27680992 single base substitution C T intron_variant MELA-AU X 27681020 27681020 single base substitution G A intron_variant MELA-AU X 27681354 27681354 single base substitution G A intron_variant MELA-AU X 27681510 27681510 single base substitution G A intron_variant MELA-AU X 27681519 27681519 single base substitution C T intron_variant MELA-AU X 27681743 27681743 single base substitution C T intron_variant MELA-AU X 27681758 27681758 single base substitution C T intron_variant MELA-AU X 27681769 27681769 single base substitution C T intron_variant MELA-AU X 27681775 27681775 single base substitution C T intron_variant MELA-AU X 27681799 27681799 single base substitution T G intron_variant MELA-AU X 27682175 27682175 single base substitution G A intron_variant MELA-AU X 27682222 27682222 single base substitution G A intron_variant MELA-AU X 27682322 27682322 single base substitution G A intron_variant MELA-AU X 27682331 27682331 single base substitution G A intron_variant MELA-AU X 27682490 27682490 single base substitution C T intron_variant MELA-AU X 27682748 27682748 single base substitution G A intron_variant MELA-AU X 27682785 27682785 single base substitution C T intron_variant MELA-AU X 27682874 27682874 single base substitution C T intron_variant MELA-AU X 27682910 27682910 single base substitution T A intron_variant MELA-AU X 27682935 27682935 single base substitution G A intron_variant MELA-AU X 27683087 27683087 single base substitution G A intron_variant MELA-AU X 27683564 27683564 single base substitution A G intron_variant MELA-AU X 27683600 27683600 single base substitution G A intron_variant MELA-AU X 27683694 27683694 single base substitution G T intron_variant MELA-AU X 27683834 27683834 single base substitution C T intron_variant MELA-AU X 27683916 27683916 single base substitution C T intron_variant MELA-AU X 27684104 27684104 single base substitution A G intron_variant MELA-AU X 27684253 27684253 single base substitution C T intron_variant MELA-AU X 27685022 27685022 single base substitution T C intron_variant MELA-AU X 27685111 27685111 single base substitution G A intron_variant MELA-AU X 27685216 27685216 single base substitution C T intron_variant MELA-AU X 27685279 27685279 single base substitution G A intron_variant MELA-AU X 27685371 27685371 single base substitution T C intron_variant MELA-AU X 27685391 27685391 single base substitution C T intron_variant MELA-AU X 27685465 27685465 single base substitution G A intron_variant MELA-AU X 27685561 27685561 single base substitution T G intron_variant MELA-AU X 27685752 27685752 single base substitution A T intron_variant MELA-AU X 27685857 27685857 single base substitution C T intron_variant MELA-AU X 27685905 27685905 single base substitution G A intron_variant MELA-AU X 27685987 27685987 single base substitution A T intron_variant MELA-AU X 27686129 27686129 single base substitution G A intron_variant MELA-AU X 27686192 27686192 single base substitution C T intron_variant MELA-AU X 27686272 27686272 single base substitution G A intron_variant MELA-AU X 27686416 27686416 single base substitution G T intron_variant MELA-AU X 27686469 27686469 single base substitution G A intron_variant MELA-AU X 27686470 27686470 single base substitution G A intron_variant MELA-AU X 27686764 27686764 single base substitution C T intron_variant MELA-AU X 27686891 27686891 single base substitution G A intron_variant MELA-AU X 27686921 27686921 deletion of <=200bp T - intron_variant MELA-AU X 27686960 27686960 single base substitution G A intron_variant MELA-AU X 27687131 27687131 single base substitution C T intron_variant MELA-AU X 27687138 27687138 single base substitution G A intron_variant MELA-AU X 27687178 27687178 single base substitution G A intron_variant MELA-AU X 27687317 27687317 single base substitution G A intron_variant MELA-AU X 27687324 27687324 single base substitution G A intron_variant MELA-AU X 27687401 27687401 single base substitution C T intron_variant MELA-AU X 27687410 27687410 single base substitution C T intron_variant MELA-AU X 27687512 27687512 single base substitution A T intron_variant MELA-AU X 27687588 27687588 single base substitution T C intron_variant MELA-AU X 27687949 27687949 single base substitution C T intron_variant MELA-AU X 27687966 27687966 single base substitution A C intron_variant MELA-AU X 27688168 27688168 single base substitution A T intron_variant MELA-AU X 27688534 27688534 single base substitution C T intron_variant MELA-AU X 27688579 27688579 single base substitution C T intron_variant MELA-AU X 27689072 27689072 single base substitution C T intron_variant MELA-AU X 27689137 27689137 single base substitution G A intron_variant MELA-AU X 27689441 27689441 single base substitution C T intron_variant MELA-AU X 27689556 27689556 single base substitution T A intron_variant MELA-AU X 27689619 27689619 single base substitution G A intron_variant MELA-AU X 27689693 27689693 single base substitution G C intron_variant MELA-AU X 27689775 27689775 single base substitution G A intron_variant MELA-AU X 27689799 27689799 single base substitution A T intron_variant MELA-AU X 27689855 27689855 single base substitution C T intron_variant MELA-AU X 27689868 27689869 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 27689901 27689901 single base substitution C T intron_variant MELA-AU X 27689922 27689922 single base substitution A T intron_variant MELA-AU X 27690115 27690115 single base substitution T C intron_variant MELA-AU X 27690237 27690237 single base substitution C T intron_variant MELA-AU X 27690420 27690420 single base substitution G A intron_variant MELA-AU X 27690426 27690426 single base substitution C T intron_variant MELA-AU X 27690440 27690440 single base substitution C T intron_variant MELA-AU X 27690543 27690543 single base substitution G A intron_variant MELA-AU X 27690673 27690673 single base substitution A C intron_variant MELA-AU X 27690717 27690717 single base substitution G A intron_variant MELA-AU X 27691022 27691022 single base substitution A T intron_variant MELA-AU X 27691060 27691060 single base substitution G A intron_variant MELA-AU X 27691151 27691151 single base substitution C T intron_variant MELA-AU X 27691322 27691322 single base substitution G A intron_variant MELA-AU X 27691671 27691671 single base substitution G T intron_variant MELA-AU X 27691896 27691896 single base substitution C T intron_variant MELA-AU X 27692022 27692022 single base substitution G A intron_variant MELA-AU X 27692147 27692147 single base substitution C A intron_variant MELA-AU X 27692176 27692176 single base substitution C T intron_variant MELA-AU X 27692228 27692228 single base substitution G A intron_variant MELA-AU X 27692337 27692337 single base substitution G A intron_variant MELA-AU X 27692409 27692409 single base substitution A T intron_variant MELA-AU X 27692448 27692448 single base substitution C T intron_variant MELA-AU X 27692467 27692467 single base substitution A T intron_variant MELA-AU X 27692472 27692472 single base substitution C T intron_variant MELA-AU X 27692542 27692542 single base substitution G A intron_variant MELA-AU X 27692734 27692734 single base substitution C T intron_variant MELA-AU X 27692816 27692816 single base substitution G A intron_variant MELA-AU X 27692830 27692830 single base substitution A T intron_variant MELA-AU X 27692924 27692924 single base substitution G A intron_variant MELA-AU X 27693356 27693356 single base substitution G A intron_variant MELA-AU X 27693495 27693495 single base substitution G A intron_variant MELA-AU X 27693533 27693533 single base substitution A T intron_variant MELA-AU X 27693538 27693538 single base substitution G A intron_variant MELA-AU X 27693588 27693588 single base substitution A G intron_variant MELA-AU X 27693905 27693905 single base substitution G A intron_variant MELA-AU X 27694175 27694175 single base substitution G A intron_variant MELA-AU X 27694591 27694591 single base substitution G A intron_variant MELA-AU X 27694609 27694609 single base substitution G A intron_variant MELA-AU X 27694655 27694655 single base substitution G A intron_variant MELA-AU X 27694666 27694666 single base substitution C T intron_variant MELA-AU X 27694854 27694854 single base substitution A G intron_variant MELA-AU X 27694879 27694879 single base substitution G A intron_variant MELA-AU X 27695056 27695056 single base substitution C T intron_variant MELA-AU X 27695056 27695056 single base substitution C T splice_region_variant MELA-AU X 27695095 27695095 single base substitution G A exon_variant MELA-AU X 27695095 27695095 single base substitution G A intron_variant MELA-AU X 27695101 27695101 single base substitution G A exon_variant MELA-AU X 27695101 27695101 single base substitution G A intron_variant MELA-AU X 27695180 27695180 single base substitution C T intron_variant MELA-AU X 27695219 27695219 single base substitution C T intron_variant MELA-AU X 27695366 27695366 single base substitution C A intron_variant MELA-AU X 27695631 27695631 single base substitution G A intron_variant MELA-AU X 27695664 27695664 single base substitution G A intron_variant MELA-AU X 27695676 27695676 single base substitution T C intron_variant MELA-AU X 27695726 27695726 single base substitution G A intron_variant MELA-AU X 27695766 27695766 single base substitution G A intron_variant MELA-AU X 27695944 27695944 single base substitution C T intron_variant MELA-AU X 27696026 27696026 single base substitution G A 5_prime_UTR_variant MELA-AU X 27696026 27696026 single base substitution G A exon_variant MELA-AU X 27696074 27696074 single base substitution A C intron_variant MELA-AU X 27696461 27696461 single base substitution G A intron_variant MELA-AU X 27696467 27696467 single base substitution G A intron_variant MELA-AU X 27696623 27696623 single base substitution G A intron_variant MELA-AU X 27696653 27696653 single base substitution G A intron_variant MELA-AU X 27696783 27696783 single base substitution G A intron_variant MELA-AU X 27696863 27696863 single base substitution G A intron_variant MELA-AU X 27696935 27696935 single base substitution G A intron_variant MELA-AU X 27696971 27696971 single base substitution C T intron_variant MELA-AU X 27697116 27697116 single base substitution G A intron_variant MELA-AU X 27697316 27697316 single base substitution C T intron_variant MELA-AU X 27697438 27697438 single base substitution T A intron_variant MELA-AU X 27697463 27697463 single base substitution G A intron_variant MELA-AU X 27697503 27697503 single base substitution G A intron_variant MELA-AU X 27697517 27697517 single base substitution G A intron_variant MELA-AU X 27697699 27697699 single base substitution C T intron_variant MELA-AU X 27697798 27697798 single base substitution G A intron_variant MELA-AU X 27698072 27698072 single base substitution C T intron_variant MELA-AU X 27698732 27698732 single base substitution C T intron_variant MELA-AU X 27698989 27698989 single base substitution T G intron_variant MELA-AU X 27699584 27699584 single base substitution G A intron_variant MELA-AU X 27699780 27699780 single base substitution T C intron_variant MELA-AU X 27699797 27699797 single base substitution C T intron_variant MELA-AU X 27699952 27699952 single base substitution C T intron_variant MELA-AU X 27700023 27700023 single base substitution T A intron_variant MELA-AU X 27700255 27700255 single base substitution C T intron_variant MELA-AU X 27700273 27700273 single base substitution G A intron_variant MELA-AU X 27700429 27700429 single base substitution T A intron_variant MELA-AU X 27700461 27700461 single base substitution G A intron_variant MELA-AU X 27700586 27700586 single base substitution G A intron_variant MELA-AU X 27700751 27700751 single base substitution C T intron_variant MELA-AU X 27700962 27700962 single base substitution A T intron_variant MELA-AU X 27701180 27701181 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 27701303 27701303 single base substitution G A intron_variant MELA-AU X 27701304 27701304 single base substitution G A intron_variant MELA-AU X 27701344 27701344 single base substitution C T intron_variant MELA-AU X 27701485 27701485 single base substitution G A intron_variant MELA-AU X 27701565 27701565 single base substitution T C intron_variant MELA-AU X 27701574 27701574 single base substitution C T intron_variant MELA-AU X 27701578 27701578 single base substitution C T intron_variant MELA-AU X 27701678 27701678 single base substitution C T intron_variant MELA-AU X 27701699 27701699 single base substitution C T intron_variant MELA-AU X 27701735 27701735 single base substitution C T intron_variant MELA-AU X 27701864 27701864 single base substitution G A intron_variant MELA-AU X 27701882 27701882 single base substitution C T intron_variant MELA-AU X 27702092 27702092 single base substitution G A intron_variant MELA-AU X 27702112 27702112 single base substitution A T intron_variant MELA-AU X 27702277 27702277 single base substitution C T intron_variant MELA-AU X 27702485 27702485 single base substitution C T intron_variant MELA-AU X 27702623 27702623 single base substitution G A intron_variant MELA-AU X 27702673 27702673 single base substitution C T intron_variant MELA-AU X 27702894 27702894 single base substitution C T intron_variant MELA-AU X 27702923 27702923 single base substitution G A intron_variant MELA-AU X 27702985 27702985 single base substitution G A intron_variant MELA-AU X 27703004 27703004 single base substitution C T intron_variant MELA-AU X 27703039 27703039 single base substitution C T intron_variant MELA-AU X 27703134 27703134 single base substitution G A intron_variant MELA-AU X 27703310 27703310 single base substitution C T intron_variant MELA-AU X 27703347 27703347 single base substitution G A intron_variant MELA-AU X 27703574 27703574 single base substitution G A intron_variant MELA-AU X 27703983 27703983 single base substitution G A intron_variant MELA-AU X 27704045 27704045 single base substitution C T intron_variant MELA-AU X 27704106 27704106 single base substitution A C intron_variant MELA-AU X 27704124 27704124 single base substitution G A intron_variant MELA-AU X 27704328 27704328 single base substitution G A intron_variant MELA-AU X 27704534 27704534 single base substitution C T intron_variant MELA-AU X 27704539 27704539 single base substitution C T intron_variant MELA-AU X 27704694 27704694 single base substitution G A intron_variant MELA-AU X 27704697 27704697 single base substitution G A intron_variant MELA-AU X 27704820 27704820 single base substitution C T intron_variant MELA-AU X 27705049 27705049 single base substitution C T intron_variant MELA-AU X 27705127 27705127 single base substitution C T intron_variant MELA-AU X 27705254 27705254 single base substitution C T intron_variant MELA-AU X 27705405 27705405 single base substitution C T intron_variant MELA-AU X 27705449 27705450 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU X 27705502 27705502 single base substitution C T intron_variant MELA-AU X 27705566 27705566 single base substitution C T intron_variant MELA-AU X 27705782 27705782 single base substitution G A intron_variant MELA-AU X 27706058 27706058 single base substitution G A intron_variant MELA-AU X 27706082 27706082 single base substitution G A intron_variant MELA-AU X 27706272 27706272 single base substitution G A intron_variant MELA-AU X 27706286 27706286 single base substitution T A intron_variant MELA-AU X 27706296 27706296 single base substitution G A intron_variant MELA-AU X 27706312 27706312 single base substitution G A intron_variant MELA-AU X 27706479 27706479 single base substitution G A intron_variant MELA-AU X 27706806 27706806 single base substitution T A intron_variant MELA-AU X 27707152 27707152 single base substitution G A intron_variant MELA-AU X 27707251 27707252 multiple base substitution (>=2bp and <=200bp) GT TG intron_variant MELA-AU X 27707701 27707701 insertion of <=200bp - T intron_variant MELA-AU X 27708061 27708061 single base substitution G A intron_variant MELA-AU X 27708217 27708217 single base substitution G A intron_variant MELA-AU X 27708445 27708445 single base substitution C T intron_variant MELA-AU X 27708462 27708462 single base substitution A C intron_variant MELA-AU X 27708593 27708593 single base substitution G A intron_variant MELA-AU X 27708607 27708607 single base substitution C T intron_variant MELA-AU X 27708618 27708618 single base substitution C T intron_variant MELA-AU X 27709027 27709027 single base substitution G A intron_variant MELA-AU X 27709189 27709189 single base substitution T A intron_variant MELA-AU X 27709240 27709240 single base substitution G A intron_variant MELA-AU X 27709306 27709306 single base substitution G A intron_variant MELA-AU X 27709451 27709451 single base substitution C T intron_variant MELA-AU X 27709598 27709598 single base substitution G A intron_variant MELA-AU X 27709656 27709656 single base substitution C T intron_variant MELA-AU X 27709693 27709693 single base substitution C T intron_variant MELA-AU X 27709701 27709701 single base substitution G A intron_variant MELA-AU X 27709741 27709741 single base substitution C T intron_variant MELA-AU X 27709928 27709928 single base substitution G A intron_variant MELA-AU X 27710045 27710045 single base substitution G A intron_variant MELA-AU X 27710165 27710165 single base substitution G A intron_variant MELA-AU X 27710356 27710356 single base substitution C T intron_variant MELA-AU X 27710446 27710446 single base substitution G A intron_variant MELA-AU X 27710456 27710456 single base substitution G A intron_variant MELA-AU X 27710508 27710508 single base substitution G A intron_variant MELA-AU X 27710597 27710597 single base substitution C T intron_variant MELA-AU X 27710679 27710679 single base substitution C T intron_variant MELA-AU X 27710687 27710687 single base substitution C T intron_variant MELA-AU X 27710832 27710832 single base substitution C T intron_variant MELA-AU X 27711100 27711100 single base substitution G A intron_variant MELA-AU X 27711274 27711274 single base substitution G A intron_variant MELA-AU X 27711538 27711538 single base substitution G A intron_variant MELA-AU X 27711569 27711569 single base substitution C T intron_variant MELA-AU X 27711574 27711574 single base substitution C T intron_variant MELA-AU X 27711653 27711653 single base substitution G A intron_variant MELA-AU X 27711675 27711675 single base substitution C T intron_variant MELA-AU X 27711692 27711692 single base substitution C T intron_variant MELA-AU X 27711699 27711699 single base substitution C T intron_variant MELA-AU X 27711701 27711701 single base substitution G A intron_variant MELA-AU X 27711763 27711763 single base substitution C T intron_variant MELA-AU X 27711873 27711873 single base substitution G A intron_variant MELA-AU X 27711967 27711967 single base substitution C T intron_variant MELA-AU X 27712006 27712006 single base substitution C T intron_variant MELA-AU X 27712067 27712067 single base substitution G A intron_variant MELA-AU X 27712106 27712106 single base substitution G A intron_variant MELA-AU X 27712224 27712224 single base substitution G A intron_variant MELA-AU X 27712364 27712364 single base substitution C T intron_variant MELA-AU X 27712375 27712375 single base substitution C T intron_variant MELA-AU X 27712395 27712395 single base substitution C T intron_variant MELA-AU X 27712438 27712438 single base substitution A G intron_variant MELA-AU X 27712581 27712581 single base substitution C T intron_variant MELA-AU X 27712730 27712730 single base substitution G A intron_variant MELA-AU X 27712733 27712733 single base substitution A C intron_variant MELA-AU X 27712840 27712840 single base substitution G A intron_variant MELA-AU X 27713282 27713282 single base substitution C T intron_variant MELA-AU X 27713290 27713290 single base substitution G A intron_variant MELA-AU X 27713512 27713512 single base substitution A G intron_variant MELA-AU X 27713845 27713845 single base substitution T A intron_variant MELA-AU X 27714084 27714084 single base substitution G A intron_variant MELA-AU X 27714091 27714091 single base substitution C T intron_variant MELA-AU X 27714133 27714133 single base substitution G A intron_variant MELA-AU X 27714270 27714270 single base substitution C T intron_variant MELA-AU X 27714374 27714374 single base substitution G A intron_variant MELA-AU X 27714385 27714385 single base substitution G A intron_variant MELA-AU X 27714389 27714389 single base substitution A G intron_variant MELA-AU X 27714401 27714401 single base substitution A G intron_variant MELA-AU X 27714403 27714403 single base substitution G A intron_variant MELA-AU X 27714584 27714584 single base substitution G A intron_variant MELA-AU X 27714644 27714644 single base substitution T A intron_variant MELA-AU X 27714673 27714673 single base substitution T A intron_variant MELA-AU X 27714802 27714802 single base substitution C T intron_variant MELA-AU X 27714877 27714877 single base substitution C T intron_variant MELA-AU X 27714987 27714987 single base substitution G A intron_variant MELA-AU X 27714988 27714988 single base substitution G A intron_variant MELA-AU X 27715195 27715195 single base substitution C T intron_variant MELA-AU X 27715453 27715453 single base substitution G A intron_variant MELA-AU X 27715717 27715717 single base substitution C T intron_variant MELA-AU X 27715823 27715823 single base substitution G A intron_variant MELA-AU X 27716199 27716199 single base substitution C T intron_variant MELA-AU X 27716216 27716216 single base substitution G A intron_variant MELA-AU X 27716267 27716267 single base substitution G A intron_variant MELA-AU X 27716288 27716288 single base substitution C T intron_variant MELA-AU X 27716408 27716408 single base substitution C T intron_variant MELA-AU X 27716409 27716409 single base substitution C T intron_variant MELA-AU X 27716542 27716542 single base substitution G A intron_variant MELA-AU X 27716547 27716547 single base substitution G A intron_variant MELA-AU X 27716819 27716819 single base substitution G A intron_variant MELA-AU X 27717360 27717360 single base substitution G A intron_variant MELA-AU X 27717451 27717451 single base substitution G A intron_variant MELA-AU X 27717501 27717501 single base substitution G A intron_variant MELA-AU X 27717509 27717509 single base substitution A G intron_variant MELA-AU X 27717587 27717587 single base substitution C T intron_variant MELA-AU X 27717627 27717627 single base substitution T A intron_variant MELA-AU X 27717639 27717639 single base substitution A T intron_variant MELA-AU X 27717778 27717778 single base substitution C T intron_variant MELA-AU X 27717832 27717832 single base substitution G A intron_variant MELA-AU X 27717892 27717892 single base substitution C T intron_variant MELA-AU X 27718019 27718019 single base substitution G C intron_variant MELA-AU X 27718154 27718154 single base substitution G A intron_variant MELA-AU X 27718422 27718422 single base substitution A G intron_variant MELA-AU X 27718511 27718511 single base substitution C T intron_variant MELA-AU X 27718527 27718527 single base substitution G A intron_variant MELA-AU X 27718528 27718528 single base substitution G A intron_variant MELA-AU X 27718686 27718686 single base substitution A G intron_variant MELA-AU X 27718737 27718737 single base substitution C T intron_variant MELA-AU X 27718748 27718748 single base substitution C T intron_variant MELA-AU X 27718774 27718774 single base substitution G A intron_variant MELA-AU X 27718890 27718890 single base substitution T A intron_variant MELA-AU X 27719017 27719017 single base substitution A T intron_variant MELA-AU X 27719269 27719269 single base substitution G A intron_variant MELA-AU X 27719635 27719635 single base substitution G A intron_variant MELA-AU X 27719680 27719680 single base substitution G A intron_variant MELA-AU X 27719762 27719762 single base substitution G A intron_variant MELA-AU X 27719793 27719793 single base substitution G A intron_variant MELA-AU X 27719889 27719889 single base substitution C T intron_variant MELA-AU X 27719992 27719992 single base substitution G A intron_variant MELA-AU X 27720031 27720031 single base substitution G A intron_variant MELA-AU X 27720226 27720226 single base substitution G A intron_variant MELA-AU X 27720394 27720394 single base substitution G A intron_variant MELA-AU X 27720478 27720478 single base substitution C T intron_variant MELA-AU X 27720953 27720953 single base substitution G A intron_variant MELA-AU X 27721155 27721155 single base substitution C T intron_variant MELA-AU X 27721344 27721344 single base substitution G T intron_variant MELA-AU X 27721348 27721348 single base substitution G A intron_variant MELA-AU X 27721505 27721505 single base substitution G A intron_variant MELA-AU X 27721593 27721593 single base substitution G C intron_variant MELA-AU X 27721732 27721732 single base substitution G A intron_variant MELA-AU X 27722074 27722074 single base substitution C T intron_variant MELA-AU X 27722272 27722273 deletion of <=200bp TA - intron_variant MELA-AU X 27722719 27722719 single base substitution G A intron_variant MELA-AU X 27722758 27722758 single base substitution C T intron_variant MELA-AU X 27722987 27722987 single base substitution G A intron_variant MELA-AU X 27723176 27723176 single base substitution G T intron_variant MELA-AU X 27723253 27723253 single base substitution C T intron_variant MELA-AU X 27723384 27723384 single base substitution C T intron_variant MELA-AU X 27723490 27723490 single base substitution T A intron_variant MELA-AU X 27723503 27723503 single base substitution C A intron_variant MELA-AU X 27723584 27723584 single base substitution C A intron_variant MELA-AU X 27723593 27723593 single base substitution T A intron_variant MELA-AU X 27723633 27723633 single base substitution G A intron_variant MELA-AU X 27723680 27723680 single base substitution C T intron_variant MELA-AU X 27723714 27723714 single base substitution G A intron_variant MELA-AU X 27724019 27724019 single base substitution C T intron_variant MELA-AU X 27724033 27724033 single base substitution G A intron_variant MELA-AU X 27724175 27724175 single base substitution C T intron_variant MELA-AU X 27724366 27724366 single base substitution G A intron_variant MELA-AU X 27724432 27724432 single base substitution G A intron_variant MELA-AU X 27724915 27724915 single base substitution G A intron_variant MELA-AU X 27724987 27724987 single base substitution G A intron_variant MELA-AU X 27725317 27725317 single base substitution G A intron_variant MELA-AU X 27725429 27725429 single base substitution A T intron_variant MELA-AU X 27725444 27725444 single base substitution T A intron_variant MELA-AU X 27725546 27725546 single base substitution G A intron_variant MELA-AU X 27725553 27725553 single base substitution G A intron_variant MELA-AU X 27725653 27725653 single base substitution G A intron_variant MELA-AU X 27725786 27725786 single base substitution C T intron_variant MELA-AU X 27726025 27726025 single base substitution C G intron_variant MELA-AU X 27726108 27726108 single base substitution A T intron_variant MELA-AU X 27726435 27726435 single base substitution G A intron_variant MELA-AU X 27726603 27726603 single base substitution C T intron_variant MELA-AU X 27726826 27726826 single base substitution C T intron_variant MELA-AU X 27726843 27726843 single base substitution G A intron_variant MELA-AU X 27726928 27726928 single base substitution C T intron_variant MELA-AU X 27727520 27727520 single base substitution G A intron_variant MELA-AU X 27727662 27727662 single base substitution C T intron_variant MELA-AU X 27727667 27727667 single base substitution C T intron_variant MELA-AU X 27727726 27727726 single base substitution A C intron_variant MELA-AU X 27727749 27727749 single base substitution G A intron_variant MELA-AU X 27727849 27727849 single base substitution G A intron_variant MELA-AU X 27727985 27727985 single base substitution G A intron_variant MELA-AU X 27727996 27727996 single base substitution A G intron_variant MELA-AU X 27728067 27728067 single base substitution C T intron_variant MELA-AU X 27728293 27728293 single base substitution C T intron_variant MELA-AU X 27728453 27728453 single base substitution G A intron_variant MELA-AU X 27728531 27728531 single base substitution T C intron_variant MELA-AU X 27728577 27728577 single base substitution C T intron_variant MELA-AU X 27728639 27728639 single base substitution C T intron_variant MELA-AU X 27728826 27728826 single base substitution C T intron_variant MELA-AU X 27728856 27728856 single base substitution C T intron_variant MELA-AU X 27728860 27728860 single base substitution C T intron_variant MELA-AU X 27728864 27728864 single base substitution C T intron_variant MELA-AU X 27728915 27728915 single base substitution G A intron_variant MELA-AU X 27729010 27729010 single base substitution C T intron_variant MELA-AU X 27729122 27729122 single base substitution A G intron_variant MELA-AU X 27729182 27729182 single base substitution A C intron_variant MELA-AU X 27729198 27729198 single base substitution C T intron_variant MELA-AU X 27729731 27729731 single base substitution G A intron_variant MELA-AU X 27729754 27729754 single base substitution G A intron_variant MELA-AU X 27729850 27729850 single base substitution A T intron_variant MELA-AU X 27730146 27730146 single base substitution G A intron_variant MELA-AU X 27730170 27730170 single base substitution C T intron_variant MELA-AU X 27730261 27730261 single base substitution T C intron_variant MELA-AU X 27730377 27730377 single base substitution C T intron_variant MELA-AU X 27730418 27730418 single base substitution G A intron_variant MELA-AU X 27730488 27730488 single base substitution C A intron_variant MELA-AU X 27730539 27730539 single base substitution A G intron_variant MELA-AU X 27730640 27730640 single base substitution T G intron_variant MELA-AU X 27730667 27730667 single base substitution C T intron_variant MELA-AU X 27730667 27730667 single base substitution C T splice_region_variant MELA-AU X 27730668 27730668 single base substitution C T intron_variant MELA-AU X 27730668 27730668 single base substitution C T splice_region_variant MELA-AU X 27730762 27730762 single base substitution C T 5_prime_UTR_variant MELA-AU X 27730762 27730762 single base substitution C T downstream_gene_variant MELA-AU X 27730762 27730762 single base substitution C T exon_variant MELA-AU X 27730762 27730762 single base substitution C T intron_variant MELA-AU X 27730764 27730764 single base substitution C T downstream_gene_variant MELA-AU X 27730764 27730764 single base substitution C T intron_variant MELA-AU X 27730764 27730764 single base substitution C T splice_region_variant MELA-AU X 27730938 27730938 single base substitution T G downstream_gene_variant MELA-AU X 27730938 27730938 single base substitution T G intron_variant MELA-AU X 27731009 27731009 single base substitution G A downstream_gene_variant MELA-AU X 27731009 27731009 single base substitution G A intron_variant MELA-AU X 27731024 27731024 single base substitution G A downstream_gene_variant MELA-AU X 27731024 27731024 single base substitution G A intron_variant MELA-AU X 27731036 27731036 single base substitution G A downstream_gene_variant MELA-AU X 27731036 27731036 single base substitution G A intron_variant MELA-AU X 27731189 27731189 single base substitution G A downstream_gene_variant MELA-AU X 27731189 27731189 single base substitution G A intron_variant MELA-AU X 27731255 27731255 single base substitution G A downstream_gene_variant MELA-AU X 27731255 27731255 single base substitution G A intron_variant MELA-AU X 27731427 27731427 single base substitution G A downstream_gene_variant MELA-AU X 27731427 27731427 single base substitution G A intron_variant MELA-AU X 27731641 27731641 single base substitution G A downstream_gene_variant MELA-AU X 27731641 27731641 single base substitution G A intron_variant MELA-AU X 27731767 27731767 single base substitution G A downstream_gene_variant MELA-AU X 27731767 27731767 single base substitution G A intron_variant MELA-AU X 27731987 27731987 single base substitution G A downstream_gene_variant MELA-AU X 27731987 27731987 single base substitution G A intron_variant MELA-AU X 27732168 27732168 single base substitution C T downstream_gene_variant MELA-AU X 27732168 27732168 single base substitution C T intron_variant MELA-AU X 27732190 27732190 single base substitution C T downstream_gene_variant MELA-AU X 27732190 27732190 single base substitution C T intron_variant MELA-AU X 27732199 27732199 single base substitution G A downstream_gene_variant MELA-AU X 27732199 27732199 single base substitution G A intron_variant MELA-AU X 27732245 27732245 single base substitution G A downstream_gene_variant MELA-AU X 27732245 27732245 single base substitution G A intron_variant MELA-AU X 27732328 27732328 single base substitution G A downstream_gene_variant MELA-AU X 27732328 27732328 single base substitution G A intron_variant MELA-AU X 27732402 27732402 single base substitution G A downstream_gene_variant MELA-AU X 27732402 27732402 single base substitution G A intron_variant MELA-AU X 27732497 27732497 single base substitution T A downstream_gene_variant MELA-AU X 27732497 27732497 single base substitution T A intron_variant MELA-AU X 27732596 27732596 single base substitution G A downstream_gene_variant MELA-AU X 27732596 27732596 single base substitution G A intron_variant MELA-AU X 27732691 27732691 single base substitution A C downstream_gene_variant MELA-AU X 27732691 27732691 single base substitution A C intron_variant MELA-AU X 27732718 27732718 single base substitution G A downstream_gene_variant MELA-AU X 27732718 27732718 single base substitution G A intron_variant MELA-AU X 27733041 27733041 single base substitution T C downstream_gene_variant MELA-AU X 27733041 27733041 single base substitution T C intron_variant MELA-AU X 27733060 27733060 single base substitution C T downstream_gene_variant MELA-AU X 27733060 27733060 single base substitution C T intron_variant MELA-AU X 27733200 27733200 single base substitution A T downstream_gene_variant MELA-AU X 27733200 27733200 single base substitution A T intron_variant MELA-AU X 27733222 27733222 single base substitution A G downstream_gene_variant MELA-AU X 27733222 27733222 single base substitution A G intron_variant MELA-AU X 27733356 27733356 single base substitution A T downstream_gene_variant MELA-AU X 27733356 27733356 single base substitution A T intron_variant MELA-AU X 27733403 27733403 single base substitution G A downstream_gene_variant MELA-AU X 27733403 27733403 single base substitution G A intron_variant MELA-AU X 27733438 27733438 single base substitution C T downstream_gene_variant MELA-AU X 27733438 27733438 single base substitution C T intron_variant MELA-AU X 27733547 27733547 single base substitution G A downstream_gene_variant MELA-AU X 27733547 27733547 single base substitution G A intron_variant MELA-AU X 27733661 27733661 single base substitution C T downstream_gene_variant MELA-AU X 27733661 27733661 single base substitution C T intron_variant MELA-AU X 27733831 27733831 single base substitution G A downstream_gene_variant MELA-AU X 27733831 27733831 single base substitution G A intron_variant MELA-AU X 27733836 27733836 single base substitution G A downstream_gene_variant MELA-AU X 27733836 27733836 single base substitution G A intron_variant MELA-AU X 27733990 27733990 single base substitution G A downstream_gene_variant MELA-AU X 27733990 27733990 single base substitution G A intron_variant MELA-AU X 27734031 27734031 single base substitution T A downstream_gene_variant MELA-AU X 27734031 27734031 single base substitution T A intron_variant MELA-AU X 27734052 27734052 single base substitution G A downstream_gene_variant MELA-AU X 27734052 27734052 single base substitution G A intron_variant MELA-AU X 27734082 27734082 single base substitution A T downstream_gene_variant MELA-AU X 27734082 27734082 single base substitution A T intron_variant MELA-AU X 27734163 27734163 single base substitution C T downstream_gene_variant MELA-AU X 27734163 27734163 single base substitution C T intron_variant MELA-AU X 27734197 27734197 single base substitution C T downstream_gene_variant MELA-AU X 27734197 27734197 single base substitution C T splice_region_variant MELA-AU X 27734240 27734240 single base substitution C T 5_prime_UTR_variant MELA-AU X 27734240 27734240 single base substitution C T downstream_gene_variant MELA-AU X 27734240 27734240 single base substitution C T exon_variant MELA-AU X 27734268 27734268 single base substitution C T 5_prime_UTR_variant MELA-AU X 27734268 27734268 single base substitution C T downstream_gene_variant MELA-AU X 27734268 27734268 single base substitution C T exon_variant MELA-AU X 27734332 27734332 single base substitution C T downstream_gene_variant MELA-AU X 27734332 27734332 single base substitution C T intron_variant MELA-AU X 27734765 27734766 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 27734765 27734766 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 27734851 27734851 single base substitution T C downstream_gene_variant MELA-AU X 27734851 27734851 single base substitution T C intron_variant MELA-AU X 27735171 27735171 single base substitution G A downstream_gene_variant MELA-AU X 27735171 27735171 single base substitution G A intron_variant MELA-AU X 27735316 27735316 single base substitution T A downstream_gene_variant MELA-AU X 27735316 27735316 single base substitution T A intron_variant MELA-AU X 27735350 27735350 single base substitution C T downstream_gene_variant MELA-AU X 27735350 27735350 single base substitution C T intron_variant MELA-AU X 27735482 27735482 single base substitution C T downstream_gene_variant MELA-AU X 27735482 27735482 single base substitution C T intron_variant MELA-AU X 27735538 27735538 single base substitution C T downstream_gene_variant MELA-AU X 27735538 27735538 single base substitution C T intron_variant MELA-AU X 27735542 27735542 single base substitution C T downstream_gene_variant MELA-AU X 27735542 27735542 single base substitution C T intron_variant MELA-AU X 27735782 27735782 single base substitution C T intron_variant MELA-AU X 27735899 27735899 single base substitution C T intron_variant MELA-AU X 27735956 27735956 single base substitution G A intron_variant MELA-AU X 27736142 27736142 single base substitution C T intron_variant MELA-AU X 27736251 27736251 single base substitution G A intron_variant MELA-AU X 27736270 27736270 single base substitution C T intron_variant MELA-AU X 27736295 27736295 single base substitution C T intron_variant MELA-AU X 27736354 27736354 single base substitution C T intron_variant MELA-AU X 27736668 27736668 single base substitution G A intron_variant MELA-AU X 27736846 27736846 single base substitution C T intron_variant MELA-AU X 27736905 27736905 single base substitution G A intron_variant MELA-AU X 27737196 27737196 single base substitution G A intron_variant MELA-AU X 27737216 27737216 single base substitution G A intron_variant MELA-AU X 27737753 27737753 single base substitution G A intron_variant MELA-AU X 27737804 27737804 single base substitution C T intron_variant MELA-AU X 27738099 27738099 single base substitution G A intron_variant MELA-AU X 27738400 27738400 single base substitution C T intron_variant MELA-AU X 27738492 27738492 single base substitution A T intron_variant MELA-AU X 27738495 27738495 single base substitution T A intron_variant MELA-AU X 27738522 27738522 single base substitution C T intron_variant MELA-AU X 27738624 27738624 single base substitution G A intron_variant MELA-AU X 27738765 27738765 single base substitution C T intron_variant MELA-AU X 27738805 27738805 single base substitution C T intron_variant MELA-AU X 27738822 27738822 single base substitution C T intron_variant MELA-AU X 27739204 27739204 single base substitution G A intron_variant MELA-AU X 27739527 27739527 single base substitution G A intron_variant MELA-AU X 27739814 27739814 single base substitution A T intron_variant MELA-AU X 27739878 27739879 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 27740015 27740015 single base substitution C T intron_variant MELA-AU X 27740321 27740321 single base substitution T G intron_variant MELA-AU X 27740387 27740387 single base substitution G A intron_variant MELA-AU X 27740589 27740589 single base substitution C T intron_variant MELA-AU X 27741017 27741017 single base substitution G A intron_variant MELA-AU X 27741022 27741022 single base substitution G A intron_variant MELA-AU X 27741177 27741177 single base substitution C T intron_variant MELA-AU X 27741227 27741227 single base substitution G A intron_variant MELA-AU X 27741448 27741448 single base substitution A C intron_variant MELA-AU X 27741456 27741456 single base substitution G A intron_variant MELA-AU X 27741488 27741488 single base substitution C T intron_variant MELA-AU X 27741539 27741539 single base substitution G A intron_variant MELA-AU X 27741803 27741803 single base substitution C T intron_variant MELA-AU X 27741888 27741888 single base substitution C T intron_variant MELA-AU X 27741920 27741920 single base substitution A G intron_variant MELA-AU X 27742170 27742170 single base substitution A G intron_variant MELA-AU X 27742309 27742309 single base substitution T C intron_variant MELA-AU X 27742326 27742326 single base substitution G A intron_variant MELA-AU X 27742529 27742529 single base substitution C T intron_variant MELA-AU X 27742558 27742558 single base substitution C T intron_variant MELA-AU X 27742565 27742565 single base substitution C T intron_variant MELA-AU X 27742577 27742577 single base substitution G A intron_variant MELA-AU X 27742656 27742656 single base substitution G A intron_variant MELA-AU X 27742674 27742674 single base substitution C T intron_variant MELA-AU X 27742983 27742983 single base substitution G A intron_variant MELA-AU X 27742984 27742985 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 27743451 27743451 single base substitution C T intron_variant MELA-AU X 27743939 27743939 single base substitution T A intron_variant MELA-AU X 27743982 27743982 single base substitution T C intron_variant MELA-AU X 27743997 27743997 single base substitution A T intron_variant MELA-AU X 27744272 27744272 single base substitution C T intron_variant MELA-AU X 27744278 27744278 single base substitution C T intron_variant MELA-AU X 27744353 27744354 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 27744386 27744386 single base substitution C T intron_variant MELA-AU X 27744749 27744749 single base substitution A C intron_variant MELA-AU X 27745114 27745114 single base substitution C T intron_variant MELA-AU X 27745147 27745147 single base substitution A G intron_variant MELA-AU X 27745162 27745162 single base substitution C T intron_variant MELA-AU X 27745181 27745181 single base substitution G A intron_variant MELA-AU X 27745311 27745311 single base substitution G A intron_variant MELA-AU X 27745328 27745328 single base substitution A T intron_variant MELA-AU X 27745423 27745423 single base substitution C T intron_variant MELA-AU X 27745512 27745512 single base substitution C T intron_variant MELA-AU X 27745622 27745622 single base substitution C T intron_variant MELA-AU X 27745775 27745775 single base substitution C T intron_variant MELA-AU X 27745858 27745858 single base substitution G T intron_variant MELA-AU X 27745894 27745894 single base substitution C T intron_variant MELA-AU X 27745978 27745978 single base substitution G A intron_variant MELA-AU X 27746220 27746220 single base substitution C T intron_variant MELA-AU X 27746227 27746227 single base substitution G A intron_variant MELA-AU X 27746282 27746282 single base substitution G A intron_variant MELA-AU X 27746475 27746475 single base substitution C T intron_variant MELA-AU X 27746534 27746534 single base substitution A G intron_variant MELA-AU X 27746537 27746537 single base substitution G A intron_variant MELA-AU X 27746604 27746604 single base substitution G A intron_variant MELA-AU X 27747111 27747111 single base substitution T A intron_variant MELA-AU X 27747118 27747118 single base substitution G A intron_variant MELA-AU X 27747163 27747163 single base substitution A G intron_variant MELA-AU X 27747220 27747220 single base substitution T G intron_variant MELA-AU X 27747221 27747221 single base substitution T C intron_variant MELA-AU X 27747259 27747259 single base substitution G A intron_variant MELA-AU X 27747336 27747336 single base substitution G A intron_variant MELA-AU X 27747751 27747751 single base substitution G A intron_variant MELA-AU X 27747851 27747851 single base substitution T C intron_variant MELA-AU X 27747871 27747871 single base substitution A G intron_variant MELA-AU X 27747930 27747930 single base substitution G A intron_variant MELA-AU X 27748030 27748030 single base substitution C T intron_variant MELA-AU X 27748083 27748083 single base substitution G A intron_variant MELA-AU X 27748094 27748094 single base substitution C T intron_variant MELA-AU X 27748313 27748313 single base substitution G A intron_variant MELA-AU X 27748327 27748327 single base substitution G A intron_variant MELA-AU X 27748351 27748351 single base substitution G A intron_variant MELA-AU X 27748638 27748638 single base substitution G A intron_variant MELA-AU X 27748747 27748747 single base substitution C T intron_variant MELA-AU X 27748812 27748812 single base substitution G A intron_variant MELA-AU X 27748998 27748998 single base substitution C T intron_variant MELA-AU X 27749003 27749003 single base substitution C T intron_variant MELA-AU X 27749044 27749044 single base substitution C T intron_variant MELA-AU X 27749065 27749065 single base substitution C T intron_variant MELA-AU X 27749289 27749289 single base substitution C T intron_variant MELA-AU X 27749436 27749436 single base substitution G A intron_variant MELA-AU X 27749447 27749447 single base substitution C T intron_variant MELA-AU X 27749486 27749486 single base substitution C T intron_variant MELA-AU X 27749638 27749638 single base substitution C T intron_variant MELA-AU X 27749763 27749763 single base substitution G T intron_variant MELA-AU X 27750189 27750189 single base substitution G A intron_variant MELA-AU X 27750209 27750209 single base substitution G A intron_variant MELA-AU X 27750435 27750435 single base substitution C T intron_variant MELA-AU X 27750518 27750518 single base substitution C T intron_variant MELA-AU X 27750573 27750573 single base substitution C T intron_variant MELA-AU X 27750610 27750610 single base substitution C T intron_variant MELA-AU X 27750831 27750831 single base substitution C T intron_variant MELA-AU X 27750839 27750839 single base substitution T G intron_variant MELA-AU X 27750854 27750854 single base substitution G A intron_variant MELA-AU X 27750861 27750861 single base substitution G A intron_variant MELA-AU X 27750909 27750909 single base substitution C T intron_variant MELA-AU X 27750971 27750971 single base substitution C T intron_variant MELA-AU X 27751281 27751281 single base substitution C T intron_variant MELA-AU X 27751290 27751290 single base substitution C T intron_variant MELA-AU X 27751524 27751524 single base substitution G A intron_variant MELA-AU X 27751620 27751620 single base substitution C T intron_variant MELA-AU X 27751655 27751655 single base substitution C T intron_variant MELA-AU X 27752122 27752122 single base substitution C T intron_variant MELA-AU X 27752225 27752225 single base substitution C T intron_variant MELA-AU X 27752236 27752236 single base substitution C T intron_variant MELA-AU X 27752237 27752237 single base substitution C T intron_variant MELA-AU X 27752243 27752243 single base substitution G A intron_variant MELA-AU X 27752246 27752246 single base substitution G A intron_variant MELA-AU X 27752447 27752447 single base substitution C T intron_variant MELA-AU X 27752632 27752632 single base substitution G A intron_variant MELA-AU X 27752662 27752662 single base substitution C T intron_variant MELA-AU X 27752991 27752991 single base substitution G A intron_variant MELA-AU X 27753179 27753180 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 27753309 27753309 single base substitution G A intron_variant MELA-AU X 27753367 27753367 single base substitution A C intron_variant MELA-AU X 27753452 27753452 single base substitution G A intron_variant MELA-AU X 27753659 27753659 single base substitution G A intron_variant MELA-AU X 27753699 27753699 single base substitution A T intron_variant MELA-AU X 27753711 27753711 single base substitution G A intron_variant MELA-AU X 27754567 27754567 single base substitution A T intron_variant MELA-AU X 27754569 27754569 single base substitution C T intron_variant MELA-AU X 27754679 27754679 single base substitution G A intron_variant MELA-AU X 27754967 27754967 single base substitution C T intron_variant MELA-AU X 27754974 27754974 single base substitution C T intron_variant MELA-AU X 27755431 27755431 deletion of <=200bp C - intron_variant MELA-AU X 27755940 27755940 single base substitution A C intron_variant MELA-AU X 27756025 27756025 single base substitution T A intron_variant MELA-AU X 27756111 27756111 single base substitution T G intron_variant MELA-AU X 27756224 27756224 single base substitution C T intron_variant MELA-AU X 27756323 27756323 single base substitution G A intron_variant MELA-AU X 27756552 27756552 single base substitution C T intron_variant MELA-AU X 27756552 27756553 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 27756562 27756562 single base substitution C T intron_variant MELA-AU X 27756601 27756601 single base substitution C T intron_variant MELA-AU X 27756663 27756663 single base substitution A G intron_variant MELA-AU X 27756733 27756733 single base substitution C T intron_variant MELA-AU X 27756738 27756738 single base substitution C A intron_variant MELA-AU X 27756934 27756934 single base substitution C T intron_variant MELA-AU X 27757009 27757009 single base substitution T A intron_variant MELA-AU X 27757123 27757123 single base substitution A G intron_variant MELA-AU X 27757182 27757182 single base substitution C T intron_variant MELA-AU X 27757204 27757204 single base substitution C T intron_variant MELA-AU X 27757248 27757248 single base substitution C T intron_variant MELA-AU X 27757249 27757249 single base substitution C T intron_variant MELA-AU X 27757334 27757334 single base substitution C T intron_variant MELA-AU X 27757397 27757397 single base substitution G A intron_variant MELA-AU X 27757523 27757523 single base substitution C T intron_variant MELA-AU X 27757549 27757549 single base substitution C T intron_variant MELA-AU X 27757991 27757991 single base substitution C T intron_variant MELA-AU X 27758059 27758059 single base substitution T C intron_variant MELA-AU X 27758066 27758066 single base substitution C T intron_variant MELA-AU X 27758096 27758096 single base substitution G A intron_variant MELA-AU X 27758138 27758138 single base substitution G A intron_variant MELA-AU X 27758217 27758217 single base substitution A G intron_variant MELA-AU X 27758282 27758282 single base substitution G A intron_variant MELA-AU X 27758424 27758424 single base substitution C T intron_variant MELA-AU X 27758458 27758458 single base substitution C T intron_variant MELA-AU X 27758464 27758464 single base substitution G A intron_variant MELA-AU X 27758591 27758591 single base substitution G A intron_variant MELA-AU X 27758597 27758597 single base substitution C T intron_variant MELA-AU X 27758632 27758632 single base substitution C T intron_variant MELA-AU X 27758654 27758654 single base substitution C T intron_variant MELA-AU X 27758671 27758671 single base substitution G A intron_variant MELA-AU X 27758725 27758725 single base substitution C T intron_variant MELA-AU X 27758769 27758769 single base substitution C T intron_variant MELA-AU X 27758808 27758808 single base substitution G A intron_variant MELA-AU X 27758879 27758879 single base substitution G A intron_variant MELA-AU X 27759422 27759422 single base substitution C T intron_variant MELA-AU X 27759637 27759637 single base substitution C T intron_variant MELA-AU X 27759679 27759679 single base substitution C T intron_variant MELA-AU X 27759681 27759681 single base substitution G A intron_variant MELA-AU X 27759696 27759696 single base substitution C T intron_variant MELA-AU X 27760122 27760122 single base substitution C T intron_variant MELA-AU X 27760136 27760136 single base substitution A C intron_variant MELA-AU X 27760292 27760292 single base substitution C T intron_variant MELA-AU X 27760298 27760298 single base substitution A C intron_variant MELA-AU X 27760300 27760300 single base substitution G A intron_variant MELA-AU X 27760392 27760392 single base substitution G A intron_variant MELA-AU X 27760475 27760475 single base substitution C T intron_variant MELA-AU X 27760531 27760531 single base substitution G A intron_variant MELA-AU X 27760547 27760548 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 27760612 27760612 single base substitution G T intron_variant MELA-AU X 27761301 27761301 single base substitution G A intron_variant MELA-AU X 27761373 27761373 single base substitution T C intron_variant MELA-AU X 27761447 27761447 single base substitution C T intron_variant MELA-AU X 27761517 27761517 single base substitution T C intron_variant MELA-AU X 27761618 27761618 single base substitution G A intron_variant MELA-AU X 27761738 27761738 single base substitution C T intron_variant MELA-AU X 27761816 27761823 deletion of <=200bp TTATTTAT - intron_variant MELA-AU X 27762062 27762062 single base substitution C T intron_variant MELA-AU X 27762238 27762238 single base substitution C T intron_variant MELA-AU X 27762268 27762268 single base substitution G A intron_variant MELA-AU X 27762388 27762388 single base substitution G A intron_variant MELA-AU X 27762389 27762389 single base substitution G A intron_variant MELA-AU X 27762423 27762423 single base substitution G A intron_variant MELA-AU X 27762628 27762628 single base substitution C T intron_variant MELA-AU X 27763429 27763429 single base substitution C T intron_variant MELA-AU X 27763549 27763549 single base substitution C T intron_variant MELA-AU X 27763647 27763647 single base substitution C T intron_variant MELA-AU X 27763651 27763651 single base substitution T C intron_variant MELA-AU X 27763795 27763795 single base substitution G A intron_variant MELA-AU X 27763797 27763797 single base substitution G A intron_variant MELA-AU X 27763915 27763915 single base substitution T C intron_variant MELA-AU X 27764060 27764060 single base substitution C T intron_variant MELA-AU X 27764175 27764175 single base substitution T A intron_variant MELA-AU X 27764203 27764203 single base substitution C T intron_variant MELA-AU X 27764244 27764244 single base substitution G A intron_variant MELA-AU X 27764439 27764439 single base substitution C T intron_variant MELA-AU X 27764755 27764755 single base substitution G A intron_variant MELA-AU X 27764774 27764774 single base substitution G A intron_variant MELA-AU X 27764963 27764963 single base substitution G A 5_prime_UTR_variant MELA-AU X 27764963 27764963 single base substitution G A exon_variant MELA-AU X 27764964 27764965 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU X 27764964 27764965 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU X 27764974 27764974 single base substitution T G 5_prime_UTR_variant MELA-AU X 27764974 27764974 single base substitution T G exon_variant MELA-AU X 27765005 27765005 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU X 27765005 27765005 single base substitution C T downstream_gene_variant MELA-AU X 27765029 27765029 single base substitution G A downstream_gene_variant MELA-AU X 27765029 27765029 single base substitution G A missense_variant G6D 17G>A MELA-AU X 27765059 27765059 single base substitution C T downstream_gene_variant MELA-AU X 27765059 27765059 single base substitution C T missense_variant T16I 47C>T MELA-AU X 27765198 27765198 single base substitution C T downstream_gene_variant MELA-AU X 27765198 27765198 single base substitution C T synonymous_variant F62F 186C>T MELA-AU X 27765631 27765631 single base substitution G A downstream_gene_variant MELA-AU X 27765631 27765631 single base substitution G A missense_variant E207K 619G>A MELA-AU X 27765679 27765679 single base substitution C T downstream_gene_variant MELA-AU X 27765679 27765679 single base substitution C T missense_variant R223C 667C>T MELA-AU X 27765736 27765736 single base substitution C T downstream_gene_variant MELA-AU X 27765736 27765736 single base substitution C T missense_variant R242W 724C>T MELA-AU X 27766014 27766014 single base substitution C T downstream_gene_variant MELA-AU X 27766014 27766014 single base substitution C T synonymous_variant F334F 1002C>T MELA-AU X 27766044 27766044 single base substitution C T downstream_gene_variant MELA-AU X 27766044 27766044 single base substitution C T synonymous_variant F344F 1032C>T MELA-AU X 27766183 27766183 single base substitution G T downstream_gene_variant MELA-AU X 27766183 27766183 single base substitution G T missense_variant V391L 1171G>T MELA-AU X 27766203 27766203 single base substitution G A downstream_gene_variant MELA-AU X 27766203 27766203 single base substitution G A synonymous_variant R397R 1191G>A MELA-AU X 27766255 27766255 single base substitution C T downstream_gene_variant MELA-AU X 27766255 27766255 single base substitution C T missense_variant H415Y 1243C>T MELA-AU X 27766345 27766345 single base substitution G A downstream_gene_variant MELA-AU X 27766345 27766345 single base substitution G A missense_variant D445N 1333G>A MELA-AU X 27766375 27766375 single base substitution G A downstream_gene_variant MELA-AU X 27766375 27766375 single base substitution G A missense_variant D455N 1363G>A MELA-AU X 27766497 27766497 single base substitution C T downstream_gene_variant MELA-AU X 27766497 27766497 single base substitution C T synonymous_variant F495F 1485C>T MELA-AU X 27767038 27767038 single base substitution G A downstream_gene_variant MELA-AU X 27767241 27767241 single base substitution T C downstream_gene_variant MELA-AU X 27767342 27767342 single base substitution C T downstream_gene_variant MELA-AU X 27767416 27767416 single base substitution G A downstream_gene_variant MELA-AU X 27767916 27767916 single base substitution C T downstream_gene_variant MELA-AU X 27767935 27767935 single base substitution T A downstream_gene_variant MELA-AU X 27767957 27767957 single base substitution T A downstream_gene_variant MELA-AU X 27768029 27768029 single base substitution C T downstream_gene_variant MELA-AU X 27768146 27768146 single base substitution G A downstream_gene_variant MELA-AU X 27768239 27768239 single base substitution G A downstream_gene_variant MELA-AU X 27768312 27768312 single base substitution G A downstream_gene_variant MELA-AU X 27768372 27768372 single base substitution G A downstream_gene_variant MELA-AU X 27768390 27768390 single base substitution G A downstream_gene_variant MELA-AU X 27768411 27768411 single base substitution G A downstream_gene_variant MELA-AU X 27768451 27768451 single base substitution C T downstream_gene_variant MELA-AU X 27768452 27768452 single base substitution C T downstream_gene_variant MELA-AU X 27768478 27768478 single base substitution C T downstream_gene_variant MELA-AU X 27768533 27768533 single base substitution G A downstream_gene_variant MELA-AU X 27768545 27768545 single base substitution C T downstream_gene_variant MELA-AU X 27768575 27768575 single base substitution T G downstream_gene_variant MELA-AU X 27768591 27768591 single base substitution C T downstream_gene_variant MELA-AU X 27768597 27768597 single base substitution C T downstream_gene_variant MELA-AU X 27768912 27768912 single base substitution T C downstream_gene_variant MELA-AU X 27769008 27769008 single base substitution C T downstream_gene_variant MELA-AU X 27769242 27769242 single base substitution C T downstream_gene_variant MELA-AU X 27769330 27769330 single base substitution G A downstream_gene_variant MELA-AU X 27769511 27769511 single base substitution G A downstream_gene_variant MELA-AU X 27769519 27769519 single base substitution G A downstream_gene_variant MELA-AU X 27769623 27769623 single base substitution C T downstream_gene_variant MELA-AU X 27769632 27769632 single base substitution C T downstream_gene_variant MELA-AU X 27769656 27769656 single base substitution G A downstream_gene_variant MELA-AU X 27769776 27769776 single base substitution G A downstream_gene_variant MELA-AU X 27769850 27769850 single base substitution T C downstream_gene_variant MELA-AU X 27769973 27769973 single base substitution C T downstream_gene_variant MELA-AU X 27770086 27770086 single base substitution G A downstream_gene_variant MELA-AU X 27770274 27770274 single base substitution C T downstream_gene_variant MELA-AU X 27770294 27770294 single base substitution G A downstream_gene_variant MELA-AU X 27770314 27770314 single base substitution C T downstream_gene_variant MELA-AU X 27770333 27770333 single base substitution C T downstream_gene_variant MELA-AU X 27770347 27770347 single base substitution C T downstream_gene_variant MELA-AU X 27770494 27770494 single base substitution T C downstream_gene_variant MELA-AU X 27770671 27770671 single base substitution C T downstream_gene_variant MELA-AU X 27771118 27771118 single base substitution G A downstream_gene_variant MELA-AU X 27771146 27771146 single base substitution C T downstream_gene_variant MELA-AU X 27771681 27771681 single base substitution C T downstream_gene_variant ORCA-IN X 27621977 27621977 single base substitution C A intron_variant ORCA-IN X 27647410 27647410 single base substitution T G intron_variant ORCA-IN X 27667053 27667053 insertion of <=200bp - T intron_variant ORCA-IN X 27671737 27671737 single base substitution A G intron_variant ORCA-IN X 27742015 27742015 single base substitution C T intron_variant ORCA-IN X 27759027 27759027 single base substitution C T intron_variant ORCA-IN X 27759639 27759639 single base substitution A G intron_variant ORCA-IN X 27761287 27761287 single base substitution C T intron_variant OV-AU X 27609415 27609415 single base substitution G A intron_variant OV-AU X 27610823 27610823 single base substitution G A intron_variant OV-AU X 27614854 27614854 single base substitution A G intron_variant OV-AU X 27615798 27615798 single base substitution T C intron_variant OV-AU X 27620977 27620977 single base substitution G A intron_variant OV-AU X 27623460 27623460 single base substitution C A intron_variant OV-AU X 27625176 27625176 single base substitution T A intron_variant OV-AU X 27629446 27629446 single base substitution C T intron_variant OV-AU X 27630460 27630460 single base substitution T C intron_variant OV-AU X 27631200 27631200 single base substitution C T intron_variant OV-AU X 27632258 27632258 single base substitution G C intron_variant OV-AU X 27633348 27633348 single base substitution C T intron_variant OV-AU X 27636505 27636505 single base substitution C T intron_variant OV-AU X 27640745 27640745 single base substitution G T intron_variant OV-AU X 27642196 27642196 single base substitution T A intron_variant OV-AU X 27642218 27642218 single base substitution G T intron_variant OV-AU X 27642480 27642480 single base substitution G C intron_variant OV-AU X 27652011 27652011 single base substitution T A downstream_gene_variant OV-AU X 27652011 27652011 single base substitution T A intron_variant OV-AU X 27654713 27654713 single base substitution C G downstream_gene_variant OV-AU X 27654713 27654713 single base substitution C G intron_variant OV-AU X 27654837 27654837 single base substitution G T downstream_gene_variant OV-AU X 27654837 27654837 single base substitution G T intron_variant OV-AU X 27655920 27655920 single base substitution C T downstream_gene_variant OV-AU X 27655920 27655920 single base substitution C T intron_variant OV-AU X 27658018 27658018 single base substitution G A intron_variant OV-AU X 27666184 27666184 single base substitution T A intron_variant OV-AU X 27669793 27669793 single base substitution A C intron_variant OV-AU X 27673231 27673231 single base substitution G A intron_variant OV-AU X 27673301 27673301 single base substitution C T intron_variant OV-AU X 27680015 27680015 single base substitution C A intron_variant OV-AU X 27682205 27682205 single base substitution A G intron_variant OV-AU X 27683044 27683044 single base substitution A C intron_variant OV-AU X 27687373 27687373 single base substitution T A intron_variant OV-AU X 27692148 27692148 single base substitution T C intron_variant OV-AU X 27700131 27700131 single base substitution A T intron_variant OV-AU X 27703721 27703721 single base substitution G A intron_variant OV-AU X 27706031 27706031 single base substitution T A intron_variant OV-AU X 27707084 27707084 single base substitution G T intron_variant OV-AU X 27707652 27707652 single base substitution G A intron_variant OV-AU X 27710772 27710772 single base substitution C T intron_variant OV-AU X 27714391 27714391 single base substitution G C intron_variant OV-AU X 27719833 27719833 single base substitution G C intron_variant OV-AU X 27725889 27725889 single base substitution T C intron_variant OV-AU X 27730219 27730219 single base substitution G T intron_variant OV-AU X 27736977 27736977 single base substitution G T intron_variant OV-AU X 27743182 27743182 single base substitution T A intron_variant OV-AU X 27747482 27747482 single base substitution C T intron_variant OV-AU X 27748326 27748326 single base substitution G C intron_variant OV-AU X 27748723 27748723 single base substitution C T intron_variant OV-AU X 27753363 27753363 single base substitution T A intron_variant OV-AU X 27757081 27757081 single base substitution C A intron_variant OV-AU X 27759301 27759301 single base substitution G C intron_variant OV-AU X 27760294 27760294 single base substitution C G intron_variant OV-AU X 27761888 27761888 single base substitution C T intron_variant OV-AU X 27762830 27762830 single base substitution C T intron_variant OV-AU X 27763410 27763410 single base substitution C G intron_variant OV-AU X 27764699 27764699 single base substitution A G intron_variant PACA-AU X 27610204 27610204 single base substitution C T intron_variant PACA-AU X 27613445 27613445 single base substitution C A intron_variant PACA-AU X 27616559 27616559 single base substitution C G intron_variant PACA-AU X 27626780 27626780 single base substitution G T intron_variant PACA-AU X 27629482 27629482 insertion of <=200bp - AT intron_variant PACA-AU X 27629482 27629483 deletion of <=200bp AT - intron_variant PACA-AU X 27629668 27629668 single base substitution G A intron_variant PACA-AU X 27631257 27631257 single base substitution T C intron_variant PACA-AU X 27639581 27639581 single base substitution G A intron_variant PACA-AU X 27639927 27639927 single base substitution C G intron_variant PACA-AU X 27641722 27641722 single base substitution C A intron_variant PACA-AU X 27641758 27641758 single base substitution C A intron_variant PACA-AU X 27643826 27643826 single base substitution C G intron_variant PACA-AU X 27648443 27648443 single base substitution C T intron_variant PACA-AU X 27653078 27653078 single base substitution C T downstream_gene_variant PACA-AU X 27653078 27653078 single base substitution C T intron_variant PACA-AU X 27654085 27654085 single base substitution C T downstream_gene_variant PACA-AU X 27654085 27654085 single base substitution C T intron_variant PACA-AU X 27654355 27654355 single base substitution T A downstream_gene_variant PACA-AU X 27654355 27654355 single base substitution T A intron_variant PACA-AU X 27656332 27656332 single base substitution C G downstream_gene_variant PACA-AU X 27656332 27656332 single base substitution C G intron_variant PACA-AU X 27661195 27661195 single base substitution C G intron_variant PACA-AU X 27661718 27661718 single base substitution A C intron_variant PACA-AU X 27666312 27666312 single base substitution A T intron_variant PACA-AU X 27666363 27666363 single base substitution T C intron_variant PACA-AU X 27666543 27666543 single base substitution G A intron_variant PACA-AU X 27667335 27667335 single base substitution A T intron_variant PACA-AU X 27669745 27669745 single base substitution G A intron_variant PACA-AU X 27669828 27669828 single base substitution C T intron_variant PACA-AU X 27670293 27670293 single base substitution T A intron_variant PACA-AU X 27671720 27671720 single base substitution A G intron_variant PACA-AU X 27673042 27673042 single base substitution T A intron_variant PACA-AU X 27675334 27675334 single base substitution T C intron_variant PACA-AU X 27676264 27676264 single base substitution G A intron_variant PACA-AU X 27677583 27677583 single base substitution C A intron_variant PACA-AU X 27679399 27679399 single base substitution G A intron_variant PACA-AU X 27680417 27680417 single base substitution A C intron_variant PACA-AU X 27681633 27681633 single base substitution A C intron_variant PACA-AU X 27685808 27685808 single base substitution G A intron_variant PACA-AU X 27686859 27686859 single base substitution C T intron_variant PACA-AU X 27687167 27687167 single base substitution G A intron_variant PACA-AU X 27689582 27689582 single base substitution C T intron_variant PACA-AU X 27697634 27697634 single base substitution G T intron_variant PACA-AU X 27700695 27700695 single base substitution C T intron_variant PACA-AU X 27702439 27702439 single base substitution C T intron_variant PACA-AU X 27702489 27702489 insertion of <=200bp - A intron_variant PACA-AU X 27705534 27705534 single base substitution A C intron_variant PACA-AU X 27712697 27712697 single base substitution A G intron_variant PACA-AU X 27714609 27714609 single base substitution T A intron_variant PACA-AU X 27714773 27714773 single base substitution G T intron_variant PACA-AU X 27716482 27716482 single base substitution C T intron_variant PACA-AU X 27717774 27717774 single base substitution A G intron_variant PACA-AU X 27728614 27728614 single base substitution T C intron_variant PACA-AU X 27728665 27728665 single base substitution T C intron_variant PACA-AU X 27730145 27730145 single base substitution G T intron_variant PACA-AU X 27733658 27733658 single base substitution C G downstream_gene_variant PACA-AU X 27733658 27733658 single base substitution C G intron_variant PACA-AU X 27734358 27734358 single base substitution G T downstream_gene_variant PACA-AU X 27734358 27734358 single base substitution G T intron_variant PACA-AU X 27738790 27738790 single base substitution G A intron_variant PACA-AU X 27748097 27748097 single base substitution C A intron_variant PACA-AU X 27751397 27751397 single base substitution T G intron_variant PACA-AU X 27756752 27756752 insertion of <=200bp - T intron_variant PACA-AU X 27757487 27757487 single base substitution G A intron_variant PACA-AU X 27758276 27758276 single base substitution C G intron_variant PACA-AU X 27759042 27759042 single base substitution A G intron_variant PACA-AU X 27761816 27761819 deletion of <=200bp TTAT - intron_variant PACA-AU X 27765108 27765108 single base substitution G A downstream_gene_variant PACA-AU X 27765108 27765108 single base substitution G A synonymous_variant A32A 96G>A PACA-AU X 27766455 27766455 single base substitution G T downstream_gene_variant PACA-AU X 27766455 27766455 single base substitution G T missense_variant R481S 1443G>T PACA-CA X 27610862 27610862 single base substitution G A intron_variant PACA-CA X 27611330 27611330 single base substitution G A intron_variant PACA-CA X 27612471 27612471 single base substitution G C intron_variant PACA-CA X 27613203 27613203 single base substitution T A intron_variant PACA-CA X 27623447 27623447 single base substitution A C intron_variant PACA-CA X 27624005 27624005 single base substitution G C intron_variant PACA-CA X 27624036 27624036 single base substitution G T intron_variant PACA-CA X 27624295 27624295 single base substitution C T intron_variant PACA-CA X 27624836 27624836 single base substitution C G intron_variant PACA-CA X 27625757 27625757 single base substitution G A intron_variant PACA-CA X 27628423 27628423 single base substitution C A intron_variant PACA-CA X 27628444 27628444 single base substitution T A intron_variant PACA-CA X 27629319 27629319 single base substitution A C intron_variant PACA-CA X 27634468 27634468 single base substitution C G intron_variant PACA-CA X 27635773 27635773 single base substitution G T intron_variant PACA-CA X 27636323 27636323 single base substitution C T intron_variant PACA-CA X 27636379 27636379 deletion of <=200bp C - intron_variant PACA-CA X 27639060 27639060 single base substitution T A intron_variant PACA-CA X 27641758 27641758 single base substitution C G intron_variant PACA-CA X 27643952 27643952 single base substitution A G intron_variant PACA-CA X 27645454 27645454 single base substitution T C intron_variant PACA-CA X 27647717 27647717 single base substitution C A intron_variant PACA-CA X 27648449 27648449 single base substitution A T intron_variant PACA-CA X 27648734 27648734 insertion of <=200bp - A intron_variant PACA-CA X 27650099 27650099 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA X 27650099 27650099 single base substitution T C exon_variant PACA-CA X 27650696 27650696 single base substitution G A exon_variant PACA-CA X 27650696 27650696 single base substitution G A intron_variant PACA-CA X 27651712 27651712 single base substitution A G exon_variant PACA-CA X 27651712 27651712 single base substitution A G intron_variant PACA-CA X 27652044 27652044 single base substitution C T downstream_gene_variant PACA-CA X 27652044 27652044 single base substitution C T intron_variant PACA-CA X 27653070 27653071 deletion of <=200bp TA - downstream_gene_variant PACA-CA X 27653070 27653071 deletion of <=200bp TA - intron_variant PACA-CA X 27653100 27653100 single base substitution C T downstream_gene_variant PACA-CA X 27653100 27653100 single base substitution C T intron_variant PACA-CA X 27653108 27653108 single base substitution G T downstream_gene_variant PACA-CA X 27653108 27653108 single base substitution G T intron_variant PACA-CA X 27656652 27656652 single base substitution C T downstream_gene_variant PACA-CA X 27656652 27656652 single base substitution C T intron_variant PACA-CA X 27663028 27663028 single base substitution C T intron_variant PACA-CA X 27663241 27663241 single base substitution A T intron_variant PACA-CA X 27665739 27665739 single base substitution C T intron_variant PACA-CA X 27669470 27669470 single base substitution A C intron_variant PACA-CA X 27672364 27672364 single base substitution C T intron_variant PACA-CA X 27673468 27673468 single base substitution T C intron_variant PACA-CA X 27674722 27674722 single base substitution C A intron_variant PACA-CA X 27675370 27675370 single base substitution G A intron_variant PACA-CA X 27676380 27676380 single base substitution C G intron_variant PACA-CA X 27677641 27677641 single base substitution C T intron_variant PACA-CA X 27679899 27679899 single base substitution C T intron_variant PACA-CA X 27682538 27682538 single base substitution G T intron_variant PACA-CA X 27682559 27682559 single base substitution C G intron_variant PACA-CA X 27683365 27683365 single base substitution T A intron_variant PACA-CA X 27684092 27684092 single base substitution G A intron_variant PACA-CA X 27686815 27686815 single base substitution A G intron_variant PACA-CA X 27687741 27687741 single base substitution C T intron_variant PACA-CA X 27690208 27690208 single base substitution A C intron_variant PACA-CA X 27691680 27691680 single base substitution T C intron_variant PACA-CA X 27693051 27693051 single base substitution G T intron_variant PACA-CA X 27694496 27694496 single base substitution G T intron_variant PACA-CA X 27697097 27697097 single base substitution C T intron_variant PACA-CA X 27699889 27699889 single base substitution C T intron_variant PACA-CA X 27700424 27700424 deletion of <=200bp T - intron_variant PACA-CA X 27702675 27702675 single base substitution C T intron_variant PACA-CA X 27703263 27703263 single base substitution C T intron_variant PACA-CA X 27703673 27703673 single base substitution G A intron_variant PACA-CA X 27704405 27704405 single base substitution G A intron_variant PACA-CA X 27705232 27705232 single base substitution C T intron_variant PACA-CA X 27706812 27706812 single base substitution A G intron_variant PACA-CA X 27707813 27707813 single base substitution T G intron_variant PACA-CA X 27708407 27708407 single base substitution G C intron_variant PACA-CA X 27711621 27711621 single base substitution T C intron_variant PACA-CA X 27714947 27714947 insertion of <=200bp - A intron_variant PACA-CA X 27715930 27715930 deletion of <=200bp T - intron_variant PACA-CA X 27716198 27716198 single base substitution T C intron_variant PACA-CA X 27716992 27716992 single base substitution T A intron_variant PACA-CA X 27718413 27718413 single base substitution T G intron_variant PACA-CA X 27723553 27723553 single base substitution C A intron_variant PACA-CA X 27723555 27723555 single base substitution C T intron_variant PACA-CA X 27723879 27723879 single base substitution A C intron_variant PACA-CA X 27728201 27728201 single base substitution G A intron_variant PACA-CA X 27729947 27729947 single base substitution G T intron_variant PACA-CA X 27734484 27734484 single base substitution A G downstream_gene_variant PACA-CA X 27734484 27734484 single base substitution A G intron_variant PACA-CA X 27735213 27735213 single base substitution G A downstream_gene_variant PACA-CA X 27735213 27735213 single base substitution G A intron_variant PACA-CA X 27737707 27737707 single base substitution G A intron_variant PACA-CA X 27738337 27738337 single base substitution T C intron_variant PACA-CA X 27740391 27740391 single base substitution T A intron_variant PACA-CA X 27742106 27742106 single base substitution C T intron_variant PACA-CA X 27746863 27746863 single base substitution C T intron_variant PACA-CA X 27748278 27748278 single base substitution A C intron_variant PACA-CA X 27748627 27748627 single base substitution C T intron_variant PACA-CA X 27749967 27749967 single base substitution G A intron_variant PACA-CA X 27749989 27749995 deletion of <=200bp GTAATTG - intron_variant PACA-CA X 27752671 27752671 single base substitution G A intron_variant PACA-CA X 27753503 27753503 single base substitution G C intron_variant PACA-CA X 27754358 27754358 single base substitution A T intron_variant PACA-CA X 27755012 27755012 single base substitution T A intron_variant PACA-CA X 27755523 27755523 single base substitution A G intron_variant PACA-CA X 27761576 27761576 single base substitution G A intron_variant PACA-CA X 27762666 27762666 single base substitution G A intron_variant PACA-CA X 27763759 27763759 single base substitution T G intron_variant PACA-CA X 27764111 27764111 single base substitution G T intron_variant PACA-CA X 27765662 27765662 single base substitution G A downstream_gene_variant PACA-CA X 27765662 27765662 single base substitution G A missense_variant R217H 650G>A PACA-CA X 27766313 27766313 single base substitution G A downstream_gene_variant PACA-CA X 27766313 27766313 single base substitution G A missense_variant G434D 1301G>A PACA-CA X 27767412 27767412 single base substitution T C downstream_gene_variant PACA-CA X 27767746 27767746 single base substitution G A downstream_gene_variant PACA-CA X 27768771 27768771 single base substitution G T downstream_gene_variant PACA-CA X 27769396 27769396 single base substitution A G downstream_gene_variant PACA-CA X 27771726 27771726 single base substitution C A downstream_gene_variant PAEN-AU X 27610813 27610813 single base substitution C T intron_variant PAEN-AU X 27629356 27629356 single base substitution G A intron_variant PAEN-AU X 27638012 27638012 single base substitution T A intron_variant PAEN-AU X 27640951 27640951 single base substitution T G intron_variant PAEN-AU X 27678014 27678014 single base substitution C T intron_variant PAEN-IT X 27611604 27611604 single base substitution C A intron_variant PAEN-IT X 27647402 27647402 single base substitution G T intron_variant PAEN-IT X 27697752 27697752 single base substitution C T intron_variant PAEN-IT X 27697824 27697824 single base substitution C T intron_variant PAEN-IT X 27701812 27701812 single base substitution G A intron_variant PAEN-IT X 27719217 27719217 single base substitution C T intron_variant PAEN-IT X 27724072 27724072 single base substitution T C intron_variant PAEN-IT X 27735199 27735199 single base substitution C T downstream_gene_variant PAEN-IT X 27735199 27735199 single base substitution C T intron_variant PAEN-IT X 27737770 27737770 single base substitution C T intron_variant PAEN-IT X 27762088 27762088 single base substitution G T intron_variant PBCA-DE X 27615100 27615100 single base substitution T C intron_variant PBCA-DE X 27622938 27622938 single base substitution A G intron_variant PBCA-DE X 27625675 27625675 single base substitution C T intron_variant PBCA-DE X 27628128 27628128 single base substitution A T intron_variant PBCA-DE X 27628515 27628516 deletion of <=200bp TG - intron_variant PBCA-DE X 27632662 27632662 single base substitution A T intron_variant PBCA-DE X 27633410 27633410 single base substitution T A intron_variant PBCA-DE X 27637122 27637122 insertion of <=200bp - ATCT intron_variant PBCA-DE X 27637122 27637125 deletion of <=200bp ATCT - intron_variant PBCA-DE X 27639278 27639278 single base substitution G T intron_variant PBCA-DE X 27640094 27640094 single base substitution G T intron_variant PBCA-DE X 27642817 27642817 single base substitution G A intron_variant PBCA-DE X 27644620 27644620 single base substitution A G intron_variant PBCA-DE X 27647261 27647261 single base substitution C T intron_variant PBCA-DE X 27650075 27650075 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE X 27650075 27650075 single base substitution C G exon_variant PBCA-DE X 27652223 27652223 single base substitution C A downstream_gene_variant PBCA-DE X 27652223 27652223 single base substitution C A intron_variant PBCA-DE X 27653075 27653076 deletion of <=200bp AC - downstream_gene_variant PBCA-DE X 27653075 27653076 deletion of <=200bp AC - intron_variant PBCA-DE X 27660182 27660182 insertion of <=200bp - T intron_variant PBCA-DE X 27675156 27675156 single base substitution T A intron_variant PBCA-DE X 27676797 27676797 single base substitution G T intron_variant PBCA-DE X 27679357 27679357 single base substitution C A intron_variant PBCA-DE X 27679872 27679872 single base substitution T C intron_variant PBCA-DE X 27680423 27680423 single base substitution A T intron_variant PBCA-DE X 27681274 27681274 single base substitution A T intron_variant PBCA-DE X 27685911 27685911 single base substitution C A intron_variant PBCA-DE X 27692529 27692529 single base substitution A G intron_variant PBCA-DE X 27699159 27699159 single base substitution G T intron_variant PBCA-DE X 27699322 27699323 deletion of <=200bp AC - intron_variant PBCA-DE X 27700341 27700341 insertion of <=200bp - A intron_variant PBCA-DE X 27700979 27700979 single base substitution C A intron_variant PBCA-DE X 27702693 27702693 single base substitution A G intron_variant PBCA-DE X 27703487 27703487 single base substitution A G intron_variant PBCA-DE X 27708488 27708488 deletion of <=200bp A - intron_variant PBCA-DE X 27709388 27709388 single base substitution T A intron_variant PBCA-DE X 27713845 27713845 single base substitution T G intron_variant PBCA-DE X 27714319 27714319 insertion of <=200bp - A intron_variant PBCA-DE X 27720569 27720569 insertion of <=200bp - A intron_variant PBCA-DE X 27724277 27724277 insertion of <=200bp - T intron_variant PBCA-DE X 27727327 27727327 single base substitution G A intron_variant PBCA-DE X 27730932 27730932 single base substitution G A downstream_gene_variant PBCA-DE X 27730932 27730932 single base substitution G A intron_variant PBCA-DE X 27732136 27732136 single base substitution G T downstream_gene_variant PBCA-DE X 27732136 27732136 single base substitution G T intron_variant PBCA-DE X 27734245 27734245 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE X 27734245 27734245 single base substitution C T downstream_gene_variant PBCA-DE X 27734245 27734245 single base substitution C T exon_variant PBCA-DE X 27734849 27734849 insertion of <=200bp - T downstream_gene_variant PBCA-DE X 27734849 27734849 insertion of <=200bp - T intron_variant PBCA-DE X 27737502 27737502 insertion of <=200bp - AAAG intron_variant PBCA-DE X 27738202 27738202 insertion of <=200bp - T intron_variant PBCA-DE X 27741114 27741114 single base substitution C T intron_variant PBCA-DE X 27742060 27742060 insertion of <=200bp - A intron_variant PBCA-DE X 27743240 27743240 single base substitution G T intron_variant PBCA-DE X 27744262 27744262 single base substitution T A intron_variant PBCA-DE X 27745313 27745313 single base substitution G A intron_variant PBCA-DE X 27745502 27745502 single base substitution G T intron_variant PBCA-DE X 27747251 27747251 insertion of <=200bp - GA intron_variant PBCA-DE X 27747763 27747763 single base substitution C T intron_variant PBCA-DE X 27750611 27750612 deletion of <=200bp GT - intron_variant PBCA-DE X 27750851 27750851 single base substitution C G intron_variant PBCA-DE X 27754224 27754224 single base substitution A T intron_variant PBCA-DE X 27758823 27758823 single base substitution A T intron_variant PBCA-DE X 27758988 27758988 single base substitution T C intron_variant PBCA-DE X 27762935 27762935 single base substitution C T intron_variant PBCA-DE X 27766215 27766215 single base substitution G T downstream_gene_variant PBCA-DE X 27766215 27766215 single base substitution G T missense_variant K401N 1203G>T PRAD-CA X 27606228 27606228 single base substitution G A upstream_gene_variant PRAD-CA X 27617091 27617091 single base substitution A T intron_variant PRAD-CA X 27628750 27628750 single base substitution C T intron_variant PRAD-CA X 27634183 27634183 single base substitution T C intron_variant PRAD-CA X 27652378 27652378 single base substitution G A downstream_gene_variant PRAD-CA X 27652378 27652378 single base substitution G A intron_variant PRAD-CA X 27659329 27659329 single base substitution T G intron_variant PRAD-CA X 27660099 27660099 single base substitution G A intron_variant PRAD-CA X 27662776 27662776 single base substitution C A intron_variant PRAD-CA X 27672569 27672569 single base substitution C T intron_variant PRAD-CA X 27680101 27680101 single base substitution C A intron_variant PRAD-CA X 27689958 27689958 single base substitution A C intron_variant PRAD-CA X 27697846 27697846 single base substitution G T intron_variant PRAD-CA X 27701459 27701459 single base substitution C A intron_variant PRAD-CA X 27702099 27702099 single base substitution C A intron_variant PRAD-CA X 27714385 27714385 single base substitution G A intron_variant PRAD-CA X 27716186 27716186 single base substitution A T intron_variant PRAD-CA X 27716848 27716848 single base substitution A T intron_variant PRAD-CA X 27729263 27729263 single base substitution G A intron_variant PRAD-CA X 27742682 27742682 single base substitution C T intron_variant PRAD-CA X 27746418 27746418 single base substitution C T intron_variant PRAD-CA X 27749291 27749291 single base substitution A G intron_variant PRAD-CA X 27750978 27750978 single base substitution T A intron_variant PRAD-CA X 27766617 27766617 single base substitution T C downstream_gene_variant PRAD-CA X 27766617 27766617 single base substitution T C synonymous_variant H535H 1605T>C PRAD-UK X 27603605 27603605 single base substitution C G upstream_gene_variant PRAD-UK X 27607782 27607782 single base substitution G A upstream_gene_variant PRAD-UK X 27608363 27608363 single base substitution C T upstream_gene_variant PRAD-UK X 27608411 27608411 single base substitution G T upstream_gene_variant PRAD-UK X 27629807 27629807 single base substitution G T intron_variant PRAD-UK X 27630207 27630207 single base substitution C A intron_variant PRAD-UK X 27633483 27633483 single base substitution T C intron_variant PRAD-UK X 27633526 27633526 single base substitution A T intron_variant PRAD-UK X 27634298 27634298 single base substitution G T intron_variant PRAD-UK X 27637733 27637733 single base substitution G T intron_variant PRAD-UK X 27654074 27654074 single base substitution G A downstream_gene_variant PRAD-UK X 27654074 27654074 single base substitution G A intron_variant PRAD-UK X 27655302 27655302 single base substitution C T downstream_gene_variant PRAD-UK X 27655302 27655302 single base substitution C T intron_variant PRAD-UK X 27664173 27664173 insertion of <=200bp - A intron_variant PRAD-UK X 27684270 27684270 single base substitution T G intron_variant PRAD-UK X 27688225 27688225 insertion of <=200bp - T intron_variant PRAD-UK X 27699117 27699117 single base substitution A T intron_variant PRAD-UK X 27702775 27702775 single base substitution C G intron_variant PRAD-UK X 27707551 27707551 single base substitution C T intron_variant PRAD-UK X 27711176 27711176 single base substitution C T intron_variant PRAD-UK X 27715596 27715596 single base substitution G A intron_variant PRAD-UK X 27727106 27727106 single base substitution G A intron_variant PRAD-UK X 27746793 27746793 single base substitution C T intron_variant PRAD-UK X 27747639 27747639 single base substitution G T intron_variant PRAD-UK X 27751012 27751012 single base substitution G A intron_variant PRAD-UK X 27752183 27752183 single base substitution C A intron_variant PRAD-UK X 27757608 27757608 single base substitution T C intron_variant PRAD-UK X 27757804 27757804 single base substitution C A intron_variant PRAD-UK X 27759138 27759138 single base substitution G A intron_variant PRAD-UK X 27760960 27760960 single base substitution A C intron_variant PRAD-UK X 27766654 27766654 single base substitution A C downstream_gene_variant PRAD-UK X 27766654 27766654 single base substitution A C missense_variant T548P 1642A>C PRAD-US X 27766321 27766321 single base substitution C A downstream_gene_variant PRAD-US X 27766321 27766321 single base substitution C A missense_variant L437M 1309C>A READ-US X 27765400 27765411 deletion of <=200bp GAGGAGGAGGAG - downstream_gene_variant READ-US X 27765400 27765411 deletion of <=200bp GAGGAGGAGGAG - inframe_deletion EEEE130 READ-US X 27766439 27766439 single base substitution A C downstream_gene_variant READ-US X 27766439 27766439 single base substitution A C missense_variant N476T 1427A>C RECA-EU X 27606572 27606572 single base substitution A T upstream_gene_variant RECA-EU X 27629304 27629304 single base substitution C T intron_variant RECA-EU X 27642866 27642866 single base substitution C T intron_variant RECA-EU X 27647769 27647769 single base substitution A T intron_variant RECA-EU X 27649012 27649012 single base substitution G A intron_variant RECA-EU X 27656325 27656325 single base substitution T A downstream_gene_variant RECA-EU X 27656325 27656325 single base substitution T A intron_variant RECA-EU X 27678503 27678503 single base substitution G C intron_variant RECA-EU X 27679160 27679160 single base substitution A T intron_variant RECA-EU X 27682832 27682832 single base substitution C A intron_variant RECA-EU X 27682944 27682944 single base substitution G T intron_variant RECA-EU X 27688430 27688430 single base substitution C T intron_variant RECA-EU X 27691808 27691808 single base substitution G T intron_variant RECA-EU X 27704264 27704264 single base substitution T A intron_variant RECA-EU X 27704858 27704858 single base substitution A G intron_variant RECA-EU X 27706978 27706978 single base substitution G T intron_variant RECA-EU X 27714401 27714401 single base substitution A G intron_variant RECA-EU X 27714405 27714405 single base substitution A G intron_variant RECA-EU X 27716299 27716299 single base substitution A T intron_variant RECA-EU X 27732217 27732217 single base substitution C T downstream_gene_variant RECA-EU X 27732217 27732217 single base substitution C T intron_variant RECA-EU X 27735721 27735721 single base substitution A T downstream_gene_variant RECA-EU X 27735721 27735721 single base substitution A T intron_variant RECA-EU X 27739322 27739322 single base substitution C G intron_variant RECA-EU X 27740452 27740452 single base substitution A C intron_variant RECA-EU X 27749349 27749349 single base substitution T A intron_variant RECA-EU X 27763741 27763741 single base substitution G A intron_variant SKCA-BR X 27604738 27604738 single base substitution T A upstream_gene_variant SKCA-BR X 27605121 27605121 single base substitution C T upstream_gene_variant SKCA-BR X 27606101 27606108 deletion of <=200bp AAATATAT - upstream_gene_variant SKCA-BR X 27606261 27606261 single base substitution T A upstream_gene_variant SKCA-BR X 27607010 27607010 single base substitution G A upstream_gene_variant SKCA-BR X 27607110 27607110 single base substitution C T upstream_gene_variant SKCA-BR X 27609108 27609108 insertion of <=200bp - TTATATATATATATATATATATATATA intron_variant SKCA-BR X 27609447 27609447 single base substitution C T intron_variant SKCA-BR X 27611830 27611830 single base substitution G A intron_variant SKCA-BR X 27612603 27612603 single base substitution A T intron_variant SKCA-BR X 27613686 27613686 single base substitution C T intron_variant SKCA-BR X 27614338 27614338 single base substitution C T intron_variant SKCA-BR X 27615569 27615569 single base substitution T C intron_variant SKCA-BR X 27616469 27616469 single base substitution C T intron_variant SKCA-BR X 27617077 27617078 deletion of <=200bp CA - intron_variant SKCA-BR X 27617089 27617089 single base substitution A T intron_variant SKCA-BR X 27619943 27619943 single base substitution G T intron_variant SKCA-BR X 27620863 27620863 single base substitution C T intron_variant SKCA-BR X 27622641 27622641 single base substitution G A intron_variant SKCA-BR X 27624756 27624756 single base substitution G A intron_variant SKCA-BR X 27624761 27624761 single base substitution T C intron_variant SKCA-BR X 27624953 27624953 single base substitution C T intron_variant SKCA-BR X 27626897 27626897 single base substitution C T intron_variant SKCA-BR X 27627895 27627895 single base substitution C T intron_variant SKCA-BR X 27627947 27627948 deletion of <=200bp CT - intron_variant SKCA-BR X 27629728 27629728 single base substitution A C intron_variant SKCA-BR X 27630201 27630201 single base substitution C T intron_variant SKCA-BR X 27630384 27630384 single base substitution C T intron_variant SKCA-BR X 27631514 27631514 single base substitution A G intron_variant SKCA-BR X 27632033 27632033 single base substitution T C intron_variant SKCA-BR X 27632721 27632721 single base substitution C T intron_variant SKCA-BR X 27632952 27632952 single base substitution C T intron_variant SKCA-BR X 27632987 27632987 single base substitution C T intron_variant SKCA-BR X 27637121 27637121 insertion of <=200bp - AATCTATC intron_variant SKCA-BR X 27641533 27641533 single base substitution G A intron_variant SKCA-BR X 27641780 27641780 single base substitution G A intron_variant SKCA-BR X 27642975 27642975 single base substitution G A intron_variant SKCA-BR X 27642995 27642995 single base substitution A T intron_variant SKCA-BR X 27643295 27643295 single base substitution G T intron_variant SKCA-BR X 27644046 27644046 single base substitution G A intron_variant SKCA-BR X 27646027 27646027 single base substitution G A intron_variant SKCA-BR X 27646210 27646210 single base substitution C T intron_variant SKCA-BR X 27647511 27647511 single base substitution G A intron_variant SKCA-BR X 27648706 27648706 single base substitution C T intron_variant SKCA-BR X 27649672 27649672 single base substitution T C intron_variant SKCA-BR X 27650272 27650272 single base substitution G A exon_variant SKCA-BR X 27650272 27650272 single base substitution G A intron_variant SKCA-BR X 27650827 27650827 single base substitution C A exon_variant SKCA-BR X 27650827 27650827 single base substitution C A intron_variant SKCA-BR X 27651419 27651419 single base substitution C T exon_variant SKCA-BR X 27651419 27651419 single base substitution C T intron_variant SKCA-BR X 27651668 27651668 single base substitution C T exon_variant SKCA-BR X 27651668 27651668 single base substitution C T intron_variant SKCA-BR X 27652469 27652469 single base substitution C T downstream_gene_variant SKCA-BR X 27652469 27652469 single base substitution C T intron_variant SKCA-BR X 27652525 27652525 single base substitution G A downstream_gene_variant SKCA-BR X 27652525 27652525 single base substitution G A intron_variant SKCA-BR X 27652841 27652841 single base substitution G A downstream_gene_variant SKCA-BR X 27652841 27652841 single base substitution G A intron_variant SKCA-BR X 27652902 27652902 single base substitution C T downstream_gene_variant SKCA-BR X 27652902 27652902 single base substitution C T intron_variant SKCA-BR X 27653055 27653055 single base substitution G A downstream_gene_variant SKCA-BR X 27653055 27653055 single base substitution G A intron_variant SKCA-BR X 27654496 27654496 single base substitution C T downstream_gene_variant SKCA-BR X 27654496 27654496 single base substitution C T intron_variant SKCA-BR X 27654577 27654577 single base substitution C T downstream_gene_variant SKCA-BR X 27654577 27654577 single base substitution C T intron_variant SKCA-BR X 27654631 27654631 single base substitution G A downstream_gene_variant SKCA-BR X 27654631 27654631 single base substitution G A intron_variant SKCA-BR X 27654683 27654683 single base substitution G A downstream_gene_variant SKCA-BR X 27654683 27654683 single base substitution G A intron_variant SKCA-BR X 27654947 27654947 single base substitution C T downstream_gene_variant SKCA-BR X 27654947 27654947 single base substitution C T intron_variant SKCA-BR X 27655765 27655765 single base substitution A G downstream_gene_variant SKCA-BR X 27655765 27655765 single base substitution A G intron_variant SKCA-BR X 27656951 27656951 single base substitution G A intron_variant SKCA-BR X 27657996 27657996 single base substitution G A intron_variant SKCA-BR X 27658179 27658179 single base substitution A T intron_variant SKCA-BR X 27658278 27658278 single base substitution C T intron_variant SKCA-BR X 27658917 27658917 insertion of <=200bp - CA intron_variant SKCA-BR X 27659134 27659134 single base substitution C T intron_variant SKCA-BR X 27661022 27661022 single base substitution C T intron_variant SKCA-BR X 27661281 27661281 single base substitution C T intron_variant SKCA-BR X 27662154 27662154 single base substitution C G intron_variant SKCA-BR X 27662261 27662261 single base substitution C T intron_variant SKCA-BR X 27662630 27662630 single base substitution C T intron_variant SKCA-BR X 27663605 27663605 single base substitution C T intron_variant SKCA-BR X 27667136 27667136 single base substitution C T intron_variant SKCA-BR X 27668211 27668211 single base substitution C A intron_variant SKCA-BR X 27668333 27668333 single base substitution A T intron_variant SKCA-BR X 27668415 27668415 single base substitution G A intron_variant SKCA-BR X 27668473 27668473 single base substitution G A intron_variant SKCA-BR X 27668933 27668933 single base substitution G A intron_variant SKCA-BR X 27669718 27669718 single base substitution C T intron_variant SKCA-BR X 27669736 27669736 single base substitution C T intron_variant SKCA-BR X 27669895 27669895 single base substitution G A intron_variant SKCA-BR X 27670802 27670802 single base substitution C A intron_variant SKCA-BR X 27670803 27670803 single base substitution C T intron_variant SKCA-BR X 27671039 27671039 single base substitution G A intron_variant SKCA-BR X 27671959 27671959 single base substitution C T intron_variant SKCA-BR X 27672823 27672823 single base substitution A T intron_variant SKCA-BR X 27674157 27674157 single base substitution G A intron_variant SKCA-BR X 27674173 27674173 single base substitution C T intron_variant SKCA-BR X 27674934 27674934 single base substitution G A intron_variant SKCA-BR X 27676489 27676489 single base substitution A C intron_variant SKCA-BR X 27677751 27677751 single base substitution C T intron_variant SKCA-BR X 27678203 27678203 single base substitution G A intron_variant SKCA-BR X 27678294 27678294 single base substitution C T intron_variant SKCA-BR X 27678856 27678856 single base substitution G A intron_variant SKCA-BR X 27681190 27681190 single base substitution A T intron_variant SKCA-BR X 27683493 27683493 single base substitution C T intron_variant SKCA-BR X 27683890 27683890 single base substitution C T intron_variant SKCA-BR X 27684617 27684617 single base substitution C T intron_variant SKCA-BR X 27685391 27685391 single base substitution C T intron_variant SKCA-BR X 27686491 27686491 single base substitution C A intron_variant SKCA-BR X 27687006 27687006 single base substitution C T intron_variant SKCA-BR X 27688646 27688646 single base substitution G A intron_variant SKCA-BR X 27689521 27689521 single base substitution C T intron_variant SKCA-BR X 27690486 27690486 single base substitution C T intron_variant SKCA-BR X 27690605 27690605 single base substitution C T intron_variant SKCA-BR X 27690717 27690717 single base substitution G A intron_variant SKCA-BR X 27692798 27692798 single base substitution G A intron_variant SKCA-BR X 27693306 27693306 single base substitution C T intron_variant SKCA-BR X 27693477 27693477 single base substitution C T intron_variant SKCA-BR X 27693898 27693898 single base substitution G A intron_variant SKCA-BR X 27694703 27694703 single base substitution G A intron_variant SKCA-BR X 27695181 27695181 single base substitution G A intron_variant SKCA-BR X 27695236 27695236 single base substitution G T intron_variant SKCA-BR X 27695455 27695455 single base substitution G A intron_variant SKCA-BR X 27696196 27696197 deletion of <=200bp GT - intron_variant SKCA-BR X 27697444 27697444 single base substitution C T intron_variant SKCA-BR X 27697510 27697510 single base substitution T C intron_variant SKCA-BR X 27698307 27698307 single base substitution T A intron_variant SKCA-BR X 27700055 27700055 single base substitution G A intron_variant SKCA-BR X 27700352 27700352 single base substitution G A intron_variant SKCA-BR X 27700909 27700909 single base substitution C T intron_variant SKCA-BR X 27702674 27702674 single base substitution C T intron_variant SKCA-BR X 27703221 27703221 single base substitution C T intron_variant SKCA-BR X 27705067 27705067 single base substitution T G intron_variant SKCA-BR X 27708510 27708510 single base substitution G C intron_variant SKCA-BR X 27711105 27711105 single base substitution C T intron_variant SKCA-BR X 27711849 27711849 single base substitution G A intron_variant SKCA-BR X 27712205 27712205 single base substitution C T intron_variant SKCA-BR X 27712919 27712919 single base substitution T A intron_variant SKCA-BR X 27714133 27714133 single base substitution G A intron_variant SKCA-BR X 27714402 27714402 single base substitution A G intron_variant SKCA-BR X 27714451 27714451 single base substitution A G intron_variant SKCA-BR X 27715101 27715101 single base substitution G A intron_variant SKCA-BR X 27715219 27715219 single base substitution G A intron_variant SKCA-BR X 27716187 27716187 single base substitution G A intron_variant SKCA-BR X 27717450 27717450 single base substitution C T intron_variant SKCA-BR X 27717954 27717954 single base substitution G A intron_variant SKCA-BR X 27719706 27719706 single base substitution G A intron_variant SKCA-BR X 27719889 27719889 single base substitution C T intron_variant SKCA-BR X 27720093 27720093 single base substitution T G intron_variant SKCA-BR X 27720394 27720394 single base substitution G A intron_variant SKCA-BR X 27721155 27721155 single base substitution C T intron_variant SKCA-BR X 27721256 27721256 single base substitution G A intron_variant SKCA-BR X 27721422 27721422 single base substitution T A intron_variant SKCA-BR X 27721519 27721519 single base substitution G A intron_variant SKCA-BR X 27722847 27722847 single base substitution C T intron_variant SKCA-BR X 27723399 27723399 single base substitution T A intron_variant SKCA-BR X 27726398 27726398 single base substitution G A intron_variant SKCA-BR X 27726842 27726842 single base substitution C T intron_variant SKCA-BR X 27727383 27727383 single base substitution C T intron_variant SKCA-BR X 27728066 27728066 single base substitution C T intron_variant SKCA-BR X 27729697 27729697 single base substitution C T intron_variant SKCA-BR X 27730170 27730170 single base substitution C T intron_variant SKCA-BR X 27730667 27730667 single base substitution C T intron_variant SKCA-BR X 27730667 27730667 single base substitution C T splice_region_variant SKCA-BR X 27730737 27730737 single base substitution C T 5_prime_UTR_variant SKCA-BR X 27730737 27730737 single base substitution C T exon_variant SKCA-BR X 27730737 27730737 single base substitution C T intron_variant SKCA-BR X 27731255 27731255 single base substitution G A downstream_gene_variant SKCA-BR X 27731255 27731255 single base substitution G A intron_variant SKCA-BR X 27731349 27731349 single base substitution G A downstream_gene_variant SKCA-BR X 27731349 27731349 single base substitution G A intron_variant SKCA-BR X 27732303 27732303 single base substitution C T downstream_gene_variant SKCA-BR X 27732303 27732303 single base substitution C T intron_variant SKCA-BR X 27733196 27733196 single base substitution G C downstream_gene_variant SKCA-BR X 27733196 27733196 single base substitution G C intron_variant SKCA-BR X 27733258 27733258 single base substitution C T downstream_gene_variant SKCA-BR X 27733258 27733258 single base substitution C T intron_variant SKCA-BR X 27733411 27733411 single base substitution G A downstream_gene_variant SKCA-BR X 27733411 27733411 single base substitution G A intron_variant SKCA-BR X 27734998 27734998 single base substitution C T downstream_gene_variant SKCA-BR X 27734998 27734998 single base substitution C T intron_variant SKCA-BR X 27735233 27735233 single base substitution C T downstream_gene_variant SKCA-BR X 27735233 27735233 single base substitution C T intron_variant SKCA-BR X 27735738 27735738 single base substitution G T downstream_gene_variant SKCA-BR X 27735738 27735738 single base substitution G T intron_variant SKCA-BR X 27736064 27736064 single base substitution G T intron_variant SKCA-BR X 27737573 27737573 single base substitution T C intron_variant SKCA-BR X 27741706 27741706 single base substitution G A intron_variant SKCA-BR X 27742572 27742572 single base substitution G C intron_variant SKCA-BR X 27744596 27744596 single base substitution C T intron_variant SKCA-BR X 27744842 27744842 single base substitution C T intron_variant SKCA-BR X 27745915 27745915 single base substitution C T intron_variant SKCA-BR X 27748002 27748002 single base substitution G A intron_variant SKCA-BR X 27748580 27748580 single base substitution G A intron_variant SKCA-BR X 27748843 27748843 single base substitution A G intron_variant SKCA-BR X 27750270 27750270 single base substitution T G intron_variant SKCA-BR X 27750660 27750660 single base substitution C T intron_variant SKCA-BR X 27751583 27751583 single base substitution C T intron_variant SKCA-BR X 27752256 27752256 single base substitution C G intron_variant SKCA-BR X 27752259 27752259 single base substitution C T intron_variant SKCA-BR X 27755149 27755149 single base substitution G A intron_variant SKCA-BR X 27756760 27756760 single base substitution G A intron_variant SKCA-BR X 27757436 27757436 single base substitution C T intron_variant SKCA-BR X 27757840 27757840 single base substitution G A intron_variant SKCA-BR X 27758460 27758460 single base substitution C T intron_variant SKCA-BR X 27758632 27758632 single base substitution C T intron_variant SKCA-BR X 27759636 27759636 single base substitution C T intron_variant SKCA-BR X 27760053 27760053 single base substitution A C intron_variant SKCA-BR X 27761199 27761199 single base substitution C T intron_variant SKCA-BR X 27763387 27763387 single base substitution C T intron_variant SKCA-BR X 27766345 27766345 single base substitution G A downstream_gene_variant SKCA-BR X 27766345 27766345 single base substitution G A missense_variant D445N 1333G>A SKCA-BR X 27767142 27767142 single base substitution C T downstream_gene_variant SKCA-BR X 27767523 27767523 single base substitution G A downstream_gene_variant SKCA-BR X 27768010 27768010 single base substitution G A downstream_gene_variant SKCA-BR X 27768114 27768114 single base substitution G A downstream_gene_variant SKCA-BR X 27771429 27771429 single base substitution T A downstream_gene_variant SKCA-BR X 27771793 27771793 single base substitution G A downstream_gene_variant SKCM-US X 27765058 27765058 single base substitution A G downstream_gene_variant SKCM-US X 27765058 27765058 single base substitution A G missense_variant T16A 46A>G SKCM-US X 27765849 27765849 single base substitution C T downstream_gene_variant SKCM-US X 27765849 27765849 single base substitution C T synonymous_variant F279F 837C>T SKCM-US X 27766044 27766044 single base substitution C T downstream_gene_variant SKCM-US X 27766044 27766044 single base substitution C T synonymous_variant F344F 1032C>T SKCM-US X 27766188 27766188 single base substitution G A downstream_gene_variant SKCM-US X 27766188 27766188 single base substitution G A synonymous_variant R392R 1176G>A SKCM-US X 27766203 27766203 single base substitution G A downstream_gene_variant SKCM-US X 27766203 27766203 single base substitution G A synonymous_variant R397R 1191G>A SKCM-US X 27766245 27766245 single base substitution C T downstream_gene_variant SKCM-US X 27766245 27766245 single base substitution C T synonymous_variant F411F 1233C>T SKCM-US X 27766345 27766345 single base substitution G A downstream_gene_variant SKCM-US X 27766345 27766345 single base substitution G A missense_variant D445N 1333G>A SKCM-US X 27766497 27766497 single base substitution C T downstream_gene_variant SKCM-US X 27766497 27766497 single base substitution C T synonymous_variant F495F 1485C>T SKCM-US X 27766554 27766554 single base substitution T C downstream_gene_variant SKCM-US X 27766554 27766554 single base substitution T C synonymous_variant G514G 1542T>C SKCM-US X 27766568 27766568 single base substitution T A downstream_gene_variant SKCM-US X 27766568 27766568 single base substitution T A missense_variant L519H 1556T>A SKCM-US X 27766574 27766574 single base substitution C T downstream_gene_variant SKCM-US X 27766574 27766574 single base substitution C T missense_variant P521L 1562C>T SKCM-US X 27766703 27766703 single base substitution G A downstream_gene_variant SKCM-US X 27766703 27766703 single base substitution G A missense_variant R564Q 1691G>A SKCM-US X 27766905 27766905 single base substitution C T downstream_gene_variant SKCM-US X 27766905 27766905 single base substitution C T synonymous_variant S631S 1893C>T THCA-SA X 27766045 27766045 single base substitution A G downstream_gene_variant THCA-SA X 27766045 27766045 single base substitution A G missense_variant T345A 1033A>G THCA-SA X 27766596 27766596 single base substitution G T downstream_gene_variant THCA-SA X 27766596 27766596 single base substitution G T missense_variant L528F 1584G>T THCA-SA X 27766674 27766674 single base substitution G A downstream_gene_variant THCA-SA X 27766674 27766674 single base substitution G A synonymous_variant K554K 1662G>A UCEC-US X 27765127 27765127 single base substitution A G downstream_gene_variant UCEC-US X 27765127 27765127 single base substitution A G missense_variant I39V 115A>G UCEC-US X 27765258 27765258 single base substitution C T downstream_gene_variant UCEC-US X 27765258 27765258 single base substitution C T synonymous_variant I82I 246C>T UCEC-US X 27765469 27765469 single base substitution C A downstream_gene_variant UCEC-US X 27765469 27765469 single base substitution C A missense_variant P153T 457C>A UCEC-US X 27765579 27765579 single base substitution C T downstream_gene_variant UCEC-US X 27765579 27765579 single base substitution C T synonymous_variant V189V 567C>T UCEC-US X 27765613 27765613 single base substitution C T downstream_gene_variant UCEC-US X 27765613 27765613 single base substitution C T missense_variant R201C 601C>T UCEC-US X 27765641 27765641 single base substitution G T downstream_gene_variant UCEC-US X 27765641 27765641 single base substitution G T missense_variant G210V 629G>T UCEC-US X 27765667 27765667 single base substitution C T downstream_gene_variant UCEC-US X 27765667 27765667 single base substitution C T missense_variant R219C 655C>T UCEC-US X 27765668 27765668 single base substitution G A downstream_gene_variant UCEC-US X 27765668 27765668 single base substitution G A missense_variant R219H 656G>A UCEC-US X 27765778 27765778 single base substitution G T downstream_gene_variant UCEC-US X 27765778 27765778 single base substitution G T missense_variant D256Y 766G>T UCEC-US X 27765880 27765880 single base substitution A G downstream_gene_variant UCEC-US X 27765880 27765880 single base substitution A G missense_variant M290V 868A>G UCEC-US X 27765978 27765978 single base substitution C T downstream_gene_variant UCEC-US X 27765978 27765978 single base substitution C T synonymous_variant H322H 966C>T UCEC-US X 27765998 27765998 single base substitution A G downstream_gene_variant UCEC-US X 27765998 27765998 single base substitution A G missense_variant D329G 986A>G UCEC-US X 27766140 27766140 single base substitution C T downstream_gene_variant UCEC-US X 27766140 27766140 single base substitution C T synonymous_variant P376P 1128C>T UCEC-US X 27766221 27766221 single base substitution A G downstream_gene_variant UCEC-US X 27766221 27766221 single base substitution A G synonymous_variant E403E 1209A>G UCEC-US X 27766230 27766230 single base substitution C T downstream_gene_variant UCEC-US X 27766230 27766230 single base substitution C T synonymous_variant G406G 1218C>T UCEC-US X 27766253 27766253 single base substitution A G downstream_gene_variant UCEC-US X 27766253 27766253 single base substitution A G missense_variant H414R 1241A>G UCEC-US X 27766293 27766293 single base substitution C T downstream_gene_variant UCEC-US X 27766293 27766293 single base substitution C T synonymous_variant C427C 1281C>T UCEC-US X 27766443 27766443 single base substitution C A downstream_gene_variant UCEC-US X 27766443 27766443 single base substitution C A missense_variant F477L 1431C>A UCEC-US X 27766549 27766549 single base substitution G T downstream_gene_variant UCEC-US X 27766549 27766549 single base substitution G T stop_gained E513* 1537G>T UCEC-US X 27766759 27766759 single base substitution C T downstream_gene_variant UCEC-US X 27766759 27766759 single base substitution C T missense_variant L583F 1747C>T UCEC-US X 27766783 27766783 single base substitution G A downstream_gene_variant UCEC-US X 27766783 27766783 single base substitution G A missense_variant G591S 1771G>A UCEC-US X 27766835 27766835 single base substitution C T downstream_gene_variant UCEC-US X 27766835 27766835 single base substitution C T missense_variant S608L 1823C>T UCEC-US X 27766886 27766886 single base substitution G A downstream_gene_variant UCEC-US X 27766886 27766886 single base substitution G A missense_variant R625Q 1874G>A UCEC-US X 27766900 27766900 single base substitution C A downstream_gene_variant UCEC-US X 27766900 27766900 single base substitution C A missense_variant P630T 1888C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A059-01 COSM1119628 c.502C>T p.R168C Substitution - Missense 23:27747496-27747496 + ESCC_130 COSM5642135 c.220G>T p.D74Y Substitution - Missense 23:27747115-27747115 + ME009T COSM224119 c.1711C>T p.P571S Substitution - Missense 23:27748705-27748705 + HCC104T COSM1625803 c.705T>C p.S235S Substitution - coding silent 23:27747699-27747699 + ccRCC-18 COSM1659249 c.153C>A p.T51T Substitution - coding silent 23:27747048-27747048 + YUFERY COSM5412495 c.340G>A p.E114K Substitution - Missense 23:27747235-27747235 + S01861 COSM5671495 c.1333G>T p.D445Y Substitution - Missense 23:27748228-27748228 + TCGA-CM-6168-01 COSM1625802 c.297G>A p.E99E Substitution - coding silent 23:27747291-27747291 + 2521260 COSM5891560 c.247G>A p.E83K Substitution - Missense 23:27747142-27747142 + BCM769T COSM4799382 c.411G>A p.A137A Substitution - coding silent 23:27747405-27747405 + CPCG0003-F1 COSM4966668 c.1506T>C p.H502H Substitution - coding silent 23:27748500-27748500 + YUVEME COSM5412498 c.1499C>T p.S500L Substitution - Missense 23:27748394-27748394 + TCGA-F4-6856-01 COSM1467348 c.787C>A p.Q263K Substitution - Missense 23:27747781-27747781 + BCM769T COSM4799381 c.510G>A p.A170A Substitution - coding silent 23:27747405-27747405 + BD21T COSM5495562 c.297T>C p.S99S Substitution - coding silent 23:27747192-27747192 + HCC60 COSM1625805 c.1387T>G p.F463V Substitution - Missense 23:27748381-27748381 + CSCC-62-T COSM4546612 c.403G>A p.E135K Substitution - Missense 23:27747298-27747298 + TCGA-AM-5821-01 COSM3694521 c.410C>T p.A137V Substitution - Missense 23:27747404-27747404 + CSCC-44-T COSM4455141 c.677A>T p.D226V Substitution - Missense 23:27747572-27747572 + KPOPBR-29-T COSM5964770 c.640G>A p.G214S Substitution - Missense 23:27747634-27747634 + DN110DB COSM5781984 c.1665G>C p.K555N Substitution - Missense 23:27748560-27748560 + TCGA-F5-6814-01 COSM3424700 c.1328A>C p.N443T Substitution - Missense 23:27748322-27748322 + ZZUFHECRKL-G063T COSM457307 c.290-2A>G p.? Unknown 23:27747282-27747282 + TCGA-AM-5821-01 COSM1138121 c.1665G>A p.T555T Substitution - coding silent 23:27748659-27748659 + TCGA-D1-A167-01 COSM1119627 c.358C>A p.P120T Substitution - Missense 23:27747352-27747352 + 0084_CRUK_PC_0084_T1_DNA COSM4420862 c.1543A>C p.T515P Substitution - Missense 23:27748537-27748537 + HCC099T COSM5816689 c.1677G>C p.K559N Substitution - Missense 23:27748572-27748572 + TCGA-FU-A40J-01 COSM4844069 c.670C>T p.L224F Substitution - Missense 23:27747565-27747565 + YUSCA COSM1119649 c.1775G>A p.R592Q Substitution - Missense 23:27748769-27748769 + PD7304a COSM5781985 c.1566G>C p.K522N Substitution - Missense 23:27748560-27748560 + TCGA-A5-A0GW-01 COSM1119625 c.115A>G p.I39V Substitution - Missense 23:27747010-27747010 + 3N21-VS-3T21 COSM4979400 c.1185T>C p.V395V Substitution - coding silent 23:27748179-27748179 + YUVEME COSM1119630 c.556C>T p.R186C Substitution - Missense 23:27747550-27747550 + BD36T COSM5509153 c.472G>A p.G158S Substitution - Missense 23:27747367-27747367 + TCGA-AP-A059-01 COSM1119638 c.1119C>T p.G373G Substitution - coding silent 23:27748113-27748113 + TCGA-G4-6625-01 COSM1467347 c.452G>A p.R151Q Substitution - Missense 23:27747446-27747446 + SJRHB003 COSM4776181 c.327_335delGGAGGAGGA p.E112_E114delEEE Deletion - In frame 23:27747321-27747329 + S01861 COSM5671496 c.1234G>T p.D412Y Substitution - Missense 23:27748228-27748228 + TCGA-EE-A2MS-06 COSM3560638 c.1134C>T p.F378F Substitution - coding silent 23:27748128-27748128 + CSCC-35-T COSM4547642 c.328G>A p.E110K Substitution - Missense 23:27747322-27747322 + TCGA-A6-5661-01 COSM5089239 c.435A>G p.E145E Substitution - coding silent 23:27747330-27747330 + 71M COSM4825166 c.211C>T p.R71* Substitution - Nonsense 23:27747106-27747106 + CSCC-41-T COSM4509539 c.80C>T p.S27F Substitution - Missense 23:27746975-27746975 + WSU-HN12 COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + CSCC-60-T COSM4527820 c.1393G>A p.E465K Substitution - Missense 23:27748387-27748387 + CSCC-31-T COSM4528736 c.155G>A p.G52E Substitution - Missense 23:27747050-27747050 + BD121T COSM5515841 c.43G>T p.G15W Substitution - Missense 23:27746938-27746938 + BD72T COSM3694520 c.300G>A p.E100E Substitution - coding silent 23:27747294-27747294 + 49M COSM222427 c.392C>T p.S131L Substitution - Missense 23:27747386-27747386 + TCGA-F5-6814-01 COSM5826555 c.1427A>C p.N476T Substitution - Missense 23:27748322-27748322 + CSCC-16-T COSM4536550 c.230G>A p.S77N Substitution - Missense 23:27747125-27747125 + 61 COSM5742225 c.626G>A p.R209Q Substitution - Missense 23:27747620-27747620 + SJRHB003 COSM4776180 c.426_434delGGAGGAGGA p.E145_E147delEEE Deletion - In frame 23:27747321-27747329 + 2492721 COSM222427 c.392C>T p.S131L Substitution - Missense 23:27747386-27747386 + HCC46T COSM457307 c.290-2A>G p.? Unknown 23:27747282-27747282 + 699_T COSM1119626 c.246C>T p.I82I Substitution - coding silent 23:27747141-27747141 + 2492708 COSM4545129 c.370G>A p.G124R Substitution - Missense 23:27747265-27747265 + TCGA-BS-A0TD-01 COSM1119641 c.1237A>G p.I413V Substitution - Missense 23:27748231-27748231 + BD110T COSM5089238 c.333G>A p.E111E Substitution - coding silent 23:27747327-27747327 + ATL043 COSM5711587 c.541G>T p.A181S Substitution - Missense 23:27747436-27747436 + ATL072 COSM5711585 c.222C>A p.D74E Substitution - Missense 23:27747117-27747117 + BD1T COSM5433547 c.387A>G p.E129E Substitution - coding silent 23:27747282-27747282 + BHY COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + BICR_22 COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + MSK-PCa2_tissue COSM5423527 c.388_396delGAGGAGGAG p.E145_E147delEEE Deletion - In frame 23:27747283-27747291 + ESCC_159 COSM5647212 c.417G>A p.E139E Substitution - coding silent 23:27747411-27747411 + PDA_099 COSM5003404 c.1127A>G p.K376R Substitution - Missense 23:27748121-27748121 + S02344 COSM5693957 c.612C>A p.N204K Substitution - Missense 23:27747606-27747606 + ESCC_75 COSM5634974 c.833A>C p.K278T Substitution - Missense 23:27747728-27747728 + ORL-48 COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + WSU-HN12 COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + TCGA-CK-4948-01 COSM5139181 c.399G>A p.E133E Substitution - coding silent 23:27747294-27747294 + PD4844a COSM5771476 c.672T>G p.L224L Substitution - coding silent 23:27747567-27747567 + CSCC-62-T COSM4546613 c.304G>A p.E102K Substitution - Missense 23:27747298-27747298 + ESCC_BICR_056T COSM5440187 c.615G>A p.Q205Q Substitution - coding silent 23:27747609-27747609 + TCGA-AP-A059-01 COSM1119647 c.1672G>A p.G558S Substitution - Missense 23:27748666-27748666 + S02403 COSM5700603 c.274C>A p.H92N Substitution - Missense 23:27747169-27747169 + BD72T COSM5089239 c.435A>G p.E145E Substitution - coding silent 23:27747330-27747330 + BD21T COSM5495563 c.289+8T>C p.? Unknown 23:27747192-27747192 + CSCC-31-T COSM4528735 c.155G>A p.G52E Substitution - Missense 23:27747050-27747050 + TCGA-C5-A0TN-01 COSM4856163 c.1413C>A p.I471I Substitution - coding silent 23:27748407-27748407 + TCGA-D1-A103-01 COSM1119626 c.246C>T p.I82I Substitution - coding silent 23:27747141-27747141 + PTC_31 COSM5958130 c.1584G>T p.L528F Substitution - Missense 23:27748479-27748479 + TCGA-A6-5665-01 COSM5090330 c.1233C>A p.F411L Substitution - Missense 23:27748128-27748128 + PAPNNX COSM5004931 c.1374C>T p.C458C Substitution - coding silent 23:27748368-27748368 + TCGA-D1-A16X-01 COSM1119640 c.1182C>T p.C394C Substitution - coding silent 23:27748176-27748176 + T3658 COSM4676397 c.1159C>A p.Q387K Substitution - Missense 23:27748054-27748054 + TCGA-D1-A16D-01 COSM1119645 c.1463C>A p.P488H Substitution - Missense 23:27748457-27748457 + BN37T COSM1625804 c.1002G>A p.V334V Substitution - coding silent 23:27747996-27747996 + C058 COSM5524812 c.522G>A p.W174* Substitution - Nonsense 23:27747417-27747417 + CSCC-16-T COSM4536551 c.230G>A p.S77N Substitution - Missense 23:27747125-27747125 + TCGA-BH-A0E1-01 COSM5216192 c.567C>T p.V189V Substitution - coding silent 23:27747462-27747462 + CSCC-60-T COSM4527819 c.1492G>A p.E498K Substitution - Missense 23:27748387-27748387 + BD1T COSM457307 c.290-2A>G p.? Unknown 23:27747282-27747282 + TCGA-A2-A04W-01 COSM457310 c.681G>A p.Q227Q Substitution - coding silent 23:27747675-27747675 + ESCC_63 COSM5633409 c.88G>A p.V30M Substitution - Missense 23:27746983-27746983 + ESCC_124 COSM5641056 c.315G>A p.E105E Substitution - coding silent 23:27747309-27747309 + TCGA-FU-A3HZ-01 COSM4839433 c.1673A>C p.K558T Substitution - Missense 23:27748568-27748568 + ESCC_BICR_056T COSM5440186 c.714G>A p.Q238Q Substitution - coding silent 23:27747609-27747609 + TCGA-AM-5821-01 COSM1557205 c.934A>G p.T312A Substitution - Missense 23:27747928-27747928 + KYSE-180 COSM4439475 c.352G>A p.E118K Substitution - Missense 23:27747247-27747247 + TCGA-B5-A0JY-01 COSM1119646 c.1648C>T p.L550F Substitution - Missense 23:27748642-27748642 + PTC_212 COSM4833942 c.1563G>A p.K521K Substitution - coding silent 23:27748557-27748557 + TCGA-FV-A3I0-01 COSM4921779 c.457C>T p.P153S Substitution - Missense 23:27747352-27747352 + BD72T COSM1467346 c.336A>G p.E112E Substitution - coding silent 23:27747330-27747330 + TCGA-D5-6539-01 COSM5423527 c.388_396delGAGGAGGAG p.E145_E147delEEE Deletion - In frame 23:27747283-27747291 + CSCC-31-T COSM4545129 c.370G>A p.G124R Substitution - Missense 23:27747265-27747265 + LUAD-F00365 COSM367567 c.1066C>G p.Q356E Substitution - Missense 23:27748060-27748060 + CAL27 COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + PAPNNX COSM5004930 c.1473C>T p.C491C Substitution - coding silent 23:27748368-27748368 + T3658 COSM4676398 c.1060C>A p.Q354K Substitution - Missense 23:27748054-27748054 + BD110T COSM5089237 c.432G>A p.E144E Substitution - coding silent 23:27747327-27747327 + TCGA-B5-A0JR-01 COSM1119637 c.1110A>G p.E370E Substitution - coding silent 23:27748104-27748104 + CSCC-52-T COSM4497818 c.505C>T p.Q169* Substitution - Nonsense 23:27747400-27747400 + CHC1629T COSM4791784 c.687A>G p.P229P Substitution - coding silent 23:27747681-27747681 + S02378 COSM5697644 c.646C>G p.Q216E Substitution - Missense 23:27747541-27747541 + 2492709 COSM4545129 c.370G>A p.G124R Substitution - Missense 23:27747265-27747265 + WSU-HN8 COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + CSCC-29-T COSM4510441 c.837C>T p.F279F Substitution - coding silent 23:27747732-27747732 + TCGA-B5-A11G-01 COSM1119635 c.887A>G p.D296G Substitution - Missense 23:27747881-27747881 + S02382 COSM5698068 c.1333G>C p.D445H Substitution - Missense 23:27748228-27748228 + 8048316 COSM3390576 c.96G>A p.A32A Substitution - coding silent 23:27746991-27746991 + TCGA-AM-5821-01 COSM5134431 c.509C>T p.A170V Substitution - Missense 23:27747404-27747404 + ESCC_130 COSM5642136 c.220G>T p.D74Y Substitution - Missense 23:27747115-27747115 + BN50T COSM1625805 c.1387T>G p.F463V Substitution - Missense 23:27748381-27748381 + HX17T COSM1625802 c.297G>A p.E99E Substitution - coding silent 23:27747291-27747291 + TCGA-06-0237-01 COSM3406253 c.1054G>T p.G352C Substitution - Missense 23:27748048-27748048 + T3021 COSM4676395 c.1060G>A p.A354T Substitution - Missense 23:27747955-27747955 + HCC099T COSM5816690 c.1578G>C p.K526N Substitution - Missense 23:27748572-27748572 + CSCC-41-T COSM4509540 c.80C>T p.S27F Substitution - Missense 23:27746975-27746975 + tumor_4119279 COSM5947000 c.995A>G p.Y332C Substitution - Missense 23:27747890-27747890 + CHC1629T COSM4791783 c.786A>G p.P262P Substitution - coding silent 23:27747681-27747681 + YUSCA COSM5412505 c.1876G>A p.V626M Substitution - Missense 23:27748771-27748771 + TCGA-LP-A5U2-01 COSM4833942 c.1563G>A p.K521K Substitution - coding silent 23:27748557-27748557 + tumor_4119279 COSM5947001 c.896A>G p.Y299C Substitution - Missense 23:27747890-27747890 + TCGA-BH-A0H0-01 COSM457306 c.13G>A p.E5K Substitution - Missense 23:27746908-27746908 + YUPAER COSM5412501 c.1430G>A p.G477E Substitution - Missense 23:27748424-27748424 + LUAD-NYU284 COSM373409 c.799G>T p.A267S Substitution - Missense 23:27747793-27747793 + BD72T COSM5139181 c.399G>A p.E133E Substitution - coding silent 23:27747294-27747294 + TCGA-AP-A056-01 COSM1119633 c.769A>G p.M257V Substitution - Missense 23:27747763-27747763 + BD177T COSM457307 c.290-2A>G p.? Unknown 23:27747282-27747282 + 49M COSM4510441 c.837C>T p.F279F Substitution - coding silent 23:27747732-27747732 + S02360 COSM5696317 c.623C>A p.A208D Substitution - Missense 23:27747518-27747518 + DN110DB COSM5781985 c.1566G>C p.K522N Substitution - Missense 23:27748560-27748560 + TCGA-LP-A4AV-01 COSM4825165 c.211C>T p.R71* Substitution - Nonsense 23:27747106-27747106 + CHC1629T COSM4791783 c.786A>G p.P262P Substitution - coding silent 23:27747681-27747681 + TCGA-D1-A176-01 COSM1119643 c.1407C>T p.C469C Substitution - coding silent 23:27748401-27748401 + 2492720 COSM5590469 c.491C>T p.S164L Substitution - Missense 23:27747386-27747386 + TCGA-CK-4948-01 COSM3694520 c.300G>A p.E100E Substitution - coding silent 23:27747294-27747294 + ESCC_1 COSM5622510 c.710A>G p.N237S Substitution - Missense 23:27747605-27747605 + TCGA-B5-A0JY-01 COSM1119644 c.1438G>T p.E480* Substitution - Nonsense 23:27748432-27748432 + S02382 COSM5698069 c.1234G>C p.D412H Substitution - Missense 23:27748228-27748228 + BD80T COSM457307 c.290-2A>G p.? Unknown 23:27747282-27747282 + TCGA-D8-A1XJ-01 COSM3694520 c.300G>A p.E100E Substitution - coding silent 23:27747294-27747294 + 61 COSM5742224 c.725G>A p.R242Q Substitution - Missense 23:27747620-27747620 + CSCC-44-T COSM4498790 c.428C>T p.S143F Substitution - Missense 23:27747422-27747422 + CSCC-17-T COSM4455611 c.833A>T p.K278M Substitution - Missense 23:27747728-27747728 + TCGA-G4-6625-01 COSM5179494 c.551G>A p.R184Q Substitution - Missense 23:27747446-27747446 + TCGA-A2-A0T5-01 COSM5835938 c.1100T>G p.V367G Substitution - Missense 23:27747995-27747995 + PTC_31 COSM5958131 c.1485G>T p.L495F Substitution - Missense 23:27748479-27748479 + S00935 COSM5663119 c.1728C>A p.D576E Substitution - Missense 23:27748623-27748623 + TCGA-AM-5821-01 COSM4999399 c.1033A>G p.T345A Substitution - Missense 23:27747928-27747928 + TCGA-D5-6539-01 COSM5423528 c.290-1_297delGAGGAGGAG p.? Unknown 23:27747283-27747291 + S02360 COSM5696318 c.524C>A p.A175D Substitution - Missense 23:27747518-27747518 + PDA_029 COSM4999399 c.1033A>G p.T345A Substitution - Missense 23:27747928-27747928 + ZZUFHECRKL-G036T COSM457307 c.290-2A>G p.? Unknown 23:27747282-27747282 + BD121T COSM5515842 c.43G>T p.G15W Substitution - Missense 23:27746938-27746938 + CSCC-29-T COSM4399272 c.738C>T p.F246F Substitution - coding silent 23:27747732-27747732 + TCGA-EE-A2MK-06 COSM3560635 c.933C>T p.F311F Substitution - coding silent 23:27747927-27747927 + ESCC_63 COSM5633408 c.88G>A p.V30M Substitution - Missense 23:27746983-27746983 + MedB-1 COSM5620630 c.1061A>G p.Q354R Substitution - Missense 23:27748055-27748055 + T3021 COSM4676396 c.961G>A p.A321T Substitution - Missense 23:27747955-27747955 + TCGA-EE-A3JA-06 COSM3560640 c.1386C>T p.F462F Substitution - coding silent 23:27748380-27748380 + ESCC_161 COSM5647753 c.1597G>A p.E533K Substitution - Missense 23:27748591-27748591 + BD87T COSM5505489 c.1123C>A p.L375I Substitution - Missense 23:27748117-27748117 + TCGA-C5-A0TN-01 COSM4856162 c.1512C>A p.I504I Substitution - coding silent 23:27748407-27748407 + HCC104 COSM1625803 c.705T>C p.S235S Substitution - coding silent 23:27747699-27747699 + MedB-1 COSM5620628 c.1039T>C p.Y347H Substitution - Missense 23:27748033-27748033 + ATL043 COSM5711588 c.442G>T p.A148S Substitution - Missense 23:27747436-27747436 + LUAD-NYU1219 COSM370321 c.1091G>A p.R364K Substitution - Missense 23:27748085-27748085 + TCGA-CK-4950-01 COSM3694520 c.300G>A p.E100E Substitution - coding silent 23:27747294-27747294 + TCGA-CM-6168-01 COSM5831262 c.396G>A p.E132E Substitution - coding silent 23:27747291-27747291 + TCGA-A6-5661-01 COSM1467346 c.336A>G p.E112E Substitution - coding silent 23:27747330-27747330 + Br14X COSM54558 c.582T>A p.H194Q Substitution - Missense 23:27747576-27747576 + Pat_40_B COSM5877702 c.1400G>A p.R467K Substitution - Missense 23:27748295-27748295 + SC_9072 COSM5563676 c.1066C>A p.Q356K Substitution - Missense 23:27748060-27748060 + YUVEME COSM5412499 c.1400C>T p.S467L Substitution - Missense 23:27748394-27748394 + YUPAER COSM5412500 c.1529G>A p.G510E Substitution - Missense 23:27748424-27748424 + ESCC_1 COSM5622511 c.611A>G p.N204S Substitution - Missense 23:27747605-27747605 + MedB-1 COSM5620629 c.1160A>G p.Q387R Substitution - Missense 23:27748055-27748055 + 35M COSM5580782 c.157G>A p.D53N Substitution - Missense 23:27747052-27747052 + TCGA-D1-A17Q-01 COSM1119632 c.667G>T p.D223Y Substitution - Missense 23:27747661-27747661 + TCGA-G2-A2EJ-01 COSM1315439 c.1217C>G p.A406G Substitution - Missense 23:27748211-27748211 + BD87T COSM5505488 c.1222C>A p.L408I Substitution - Missense 23:27748117-27748117 + HCC060T COSM5818170 c.453G>A p.A151A Substitution - coding silent 23:27747348-27747348 + 53M COSM5594487 c.433G>A p.E145K Substitution - Missense 23:27747328-27747328 + Pat_40_A COSM5877703 c.1301G>A p.R434K Substitution - Missense 23:27748295-27748295 + 12M COSM5577396 c.1844C>T p.S615L Substitution - Missense 23:27748739-27748739 + CHC2321T COSM3668710 c.1246T>C p.F416L Substitution - Missense 23:27748240-27748240 + HCC60T COSM1625805 c.1387T>G p.F463V Substitution - Missense 23:27748381-27748381 + 2492721 COSM5590469 c.491C>T p.S164L Substitution - Missense 23:27747386-27747386 + TCGA-D3-A51G-06 COSM3560636 c.1077G>A p.R359R Substitution - coding silent 23:27748071-27748071 + TCGA-EE-A3AB-06 COSM3560637 c.1092G>A p.R364R Substitution - coding silent 23:27748086-27748086 + CHC2141T COSM4790228 c.1788G>C p.W596C Substitution - Missense 23:27748683-27748683 + TCGA-EK-A2RO-01 COSM4848779 c.1054C>T p.R352W Substitution - Missense 23:27747949-27747949 + PD7304a COSM5781984 c.1665G>C p.K555N Substitution - Missense 23:27748560-27748560 + 53M COSM5594488 c.334G>A p.E112K Substitution - Missense 23:27747328-27747328 + TCGA-FV-A3I0-01 COSM4921780 c.358C>T p.P120S Substitution - Missense 23:27747352-27747352 + 2492722 COSM5590469 c.491C>T p.S164L Substitution - Missense 23:27747386-27747386 + TCGA-C8-A1HM-01 COSM457311 c.693G>A p.L231L Substitution - coding silent 23:27747687-27747687 + TCGA-AP-A056-01 COSM1119648 c.1724C>T p.S575L Substitution - Missense 23:27748718-27748718 + BCM769T COSM4799382 c.411G>A p.A137A Substitution - coding silent 23:27747405-27747405 + S02093 COSM5673330 c.842C>G p.P281R Substitution - Missense 23:27747737-27747737 + 2492720 COSM222427 c.392C>T p.S131L Substitution - Missense 23:27747386-27747386 + TCGA-GF-A3OT-06 COSM3560639 c.1234G>A p.D412N Substitution - Missense 23:27748228-27748228 + I-02 COSM4767232 c.1756C>T p.H586Y Substitution - Missense 23:27748651-27748651 + YUVEME COSM5412496 c.655C>T p.R219C Substitution - Missense 23:27747550-27747550 + CSCC-44-T COSM4498789 c.527C>T p.S176F Substitution - Missense 23:27747422-27747422 + Pat_40_A COSM5877702 c.1400G>A p.R467K Substitution - Missense 23:27748295-27748295 + S02344 COSM5693959 c.626G>T p.R209L Substitution - Missense 23:27747620-27747620 + ORL-48 COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + 2492723 COSM222427 c.392C>T p.S131L Substitution - Missense 23:27747386-27747386 + ESCC_124 COSM5649845 c.309G>A p.E103E Substitution - coding silent 23:27747303-27747303 + 381_T COSM3965085 c.744T>A p.P248P Substitution - coding silent 23:27747738-27747738 + CSCC-40-T COSM4484363 c.27C>T p.D9D Substitution - coding silent 23:27746922-27746922 + TCGA-D8-A1XJ-01 COSM5139181 c.399G>A p.E133E Substitution - coding silent 23:27747294-27747294 + ESCC_124 COSM5649844 c.408G>A p.E136E Substitution - coding silent 23:27747303-27747303 + TCGA-A2-A04W-01 COSM5193337 c.780G>A p.Q260Q Substitution - coding silent 23:27747675-27747675 + 2492710 COSM4545129 c.370G>A p.G124R Substitution - Missense 23:27747265-27747265 + S02093 COSM5673331 c.743C>G p.P248R Substitution - Missense 23:27747737-27747737 + YULOCUS COSM5412503 c.1700A>G p.E567G Substitution - Missense 23:27748694-27748694 + ME002T COSM222427 c.392C>T p.S131L Substitution - Missense 23:27747386-27747386 + Pa07C COSM85205 c.193G>A p.D65N Substitution - Missense 23:27747088-27747088 + YUOTHO COSM3560640 c.1386C>T p.F462F Substitution - coding silent 23:27748380-27748380 + TCGA-LP-A5U2-01 COSM4833941 c.1662G>A p.K554K Substitution - coding silent 23:27748557-27748557 + LUAD-B00859 COSM355687 c.713C>A p.T238K Substitution - Missense 23:27747707-27747707 + YUSCA COSM5412506 c.1777G>A p.V593M Substitution - Missense 23:27748771-27748771 + TCGA-C8-A1HM-01 COSM5221634 c.792G>A p.L264L Substitution - coding silent 23:27747687-27747687 + ZZUFHECRKL-G036T COSM5433547 c.387A>G p.E129E Substitution - coding silent 23:27747282-27747282 + TCGA-AP-A0LP-01 COSM1119629 c.530G>T p.G177V Substitution - Missense 23:27747524-27747524 + S02378 COSM5697645 c.547C>G p.Q183E Substitution - Missense 23:27747541-27747541 + TCGA-A2-A0T5-01 COSM3844408 c.1001T>G p.V334G Substitution - Missense 23:27747995-27747995 + TCGA-EE-A29L-06 COSM3560637 c.1092G>A p.R364R Substitution - coding silent 23:27748086-27748086 + UM-SCC-47 COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + BHY COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + J90_T COSM3965087 c.1519T>G p.W507G Substitution - Missense 23:27748513-27748513 + PTC_212 COSM4833941 c.1662G>A p.K554K Substitution - coding silent 23:27748557-27748557 + S00837 COSM5661308 c.758C>T p.S253F Substitution - Missense 23:27747752-27747752 + CHC2321T COSM5348945 c.1345T>C p.F449L Substitution - Missense 23:27748240-27748240 + CAL27 COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + TCGA-FU-A40J-01 COSM4844070 c.571C>T p.L191F Substitution - Missense 23:27747565-27747565 + S02344 COSM5693958 c.725G>T p.R242L Substitution - Missense 23:27747620-27747620 + CHC2321T COSM3668710 c.1246T>C p.F416L Substitution - Missense 23:27748240-27748240 + S02403 COSM5700604 c.274C>A p.H92N Substitution - Missense 23:27747169-27747169 + BD177T COSM5433547 c.387A>G p.E129E Substitution - coding silent 23:27747282-27747282 + I-02 COSM4767233 c.1657C>T p.H553Y Substitution - Missense 23:27748651-27748651 + CHC1629T COSM4791784 c.687A>G p.P229P Substitution - coding silent 23:27747681-27747681 + ZZUFHECRKL-G063T COSM5433547 c.387A>G p.E129E Substitution - coding silent 23:27747282-27747282 + 49M COSM4399272 c.738C>T p.F246F Substitution - coding silent 23:27747732-27747732 + TCGA-D1-A16X-01 COSM1119642 c.1332C>A p.F444L Substitution - Missense 23:27748326-27748326 + YUOTHO COSM5412497 c.1485C>T p.F495F Substitution - coding silent 23:27748380-27748380 + 49M COSM5590469 c.491C>T p.S164L Substitution - Missense 23:27747386-27747386 + CHC2141T COSM4790229 c.1689G>C p.W563C Substitution - Missense 23:27748683-27748683 + CHC2141T COSM4790229 c.1689G>C p.W563C Substitution - Missense 23:27748683-27748683 + UM-SCC-47 COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + TCGA-B8-4143-01 COSM488279 c.1664C>T p.T555M Substitution - Missense 23:27748658-27748658 + HCC89T COSM1625801 c.290-1_300delGAGGAGGAGGAG p.? Unknown 23:27747283-27747294 + TCGA-EK-A2PG-01 COSM4819210 c.551G>A p.R184H Substitution - Missense 23:27747545-27747545 + YULOCUS COSM5412502 c.1799A>G p.E600G Substitution - Missense 23:27748694-27748694 + LUAD-S01315 COSM385714 c.763C>A p.L255M Substitution - Missense 23:27747757-27747757 + BD80T COSM5433547 c.387A>G p.E129E Substitution - coding silent 23:27747282-27747282 + CSCC-40-T COSM4484364 c.27C>T p.D9D Substitution - coding silent 23:27746922-27746922 + C058 COSM5524813 c.423G>A p.W141* Substitution - Nonsense 23:27747417-27747417 + 35M COSM5580781 c.157G>A p.D53N Substitution - Missense 23:27747052-27747052 + HCC060T COSM5818171 c.354G>A p.A118A Substitution - coding silent 23:27747348-27747348 + BICR_22 COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + TCGA-HR-A2OG-01 COSM3560643 c.1592G>A p.R531Q Substitution - Missense 23:27748586-27748586 + S00050 COSM5657274 c.620G>A p.G207D Substitution - Missense 23:27747614-27747614 + TCGA-DC-5869-01 COSM1625801 c.290-1_300delGAGGAGGAGGAG p.? Unknown 23:27747283-27747294 + WSU-HN8 COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + TCGA-EO-A1Y5-01 COSM1119630 c.556C>T p.R186C Substitution - Missense 23:27747550-27747550 + 49M COSM5590467 c.212G>A p.R71Q Substitution - Missense 23:27747107-27747107 + ESCC_161 COSM5647752 c.1696G>A p.E566K Substitution - Missense 23:27748591-27748591 + 3N21-VS-3T21 COSM4979399 c.1284T>C p.V428V Substitution - coding silent 23:27748179-27748179 + LUAD-5V8LT COSM403152 c.211C>A p.R71R Substitution - coding silent 23:27747106-27747106 + ESCC_124 COSM5641055 c.414G>A p.E138E Substitution - coding silent 23:27747309-27747309 + LUAD-S01356 COSM404447 c.1705G>A p.E569K Substitution - Missense 23:27748699-27748699 + 71M COSM4825165 c.211C>T p.R71* Substitution - Nonsense 23:27747106-27747106 + TCGA-BH-A0AZ-01 COSM457308 c.327G>A p.E109E Substitution - coding silent 23:27747321-27747321 + S00837 COSM5661307 c.857C>T p.S286F Substitution - Missense 23:27747752-27747752 + TCGA-ER-A19J-06 COSM3560634 c.46A>G p.T16A Substitution - Missense 23:27746941-27746941 + TCGA-LP-A4AV-01 COSM4825166 c.211C>T p.R71* Substitution - Nonsense 23:27747106-27747106 + TCGA-HC-7213-01 COSM3673378 c.1210C>A p.L404M Substitution - Missense 23:27748204-27748204 + HCC38T COSM457308 c.327G>A p.E109E Substitution - coding silent 23:27747321-27747321 + BCM769T COSM4799381 c.510G>A p.A170A Substitution - coding silent 23:27747405-27747405 + MSK-PCa2_tissue COSM5423528 c.290-1_297delGAGGAGGAG p.? Unknown 23:27747283-27747291 + 8068554 COSM4387883 c.1344G>T p.R448S Substitution - Missense 23:27748338-27748338 + TCGA-BH-A0AZ-01 COSM5835937 c.426G>A p.E142E Substitution - coding silent 23:27747321-27747321 + TCGA-BH-A0E1-01 COSM457309 c.468C>T p.V156V Substitution - coding silent 23:27747462-27747462 + ATL072 COSM5711586 c.222C>A p.D74E Substitution - Missense 23:27747117-27747117 + CSCC-17-T COSM4455612 c.734A>T p.K245M Substitution - Missense 23:27747728-27747728 + TCGA-EE-A3AD-06 COSM3560641 c.1443T>C p.G481G Substitution - coding silent 23:27748437-27748437 + TCGA-EK-A2RO-01 COSM4848780 c.955C>T p.R319W Substitution - Missense 23:27747949-27747949 + ESCC_75 COSM5634975 c.734A>C p.K245T Substitution - Missense 23:27747728-27747728 + TCGA-A6-5665-01 COSM1467350 c.1134C>A p.F378L Substitution - Missense 23:27748128-27748128 + KPOPBR-29-T COSM5964769 c.739G>A p.G247S Substitution - Missense 23:27747634-27747634 + TCGA-EE-A2GC-06 COSM3560644 c.1794C>T p.S598S Substitution - coding silent 23:27748788-27748788 + TCGA-D1-A167-01 COSM1119630 c.556C>T p.R186C Substitution - Missense 23:27747550-27747550 + TCGA-FU-A3HZ-01 COSM4839434 c.1574A>C p.K525T Substitution - Missense 23:27748568-27748568 + TCGA-FW-A3R5-06 COSM3913814 c.1457T>A p.L486H Substitution - Missense 23:27748451-27748451 + S00050 COSM5657273 c.719G>A p.G240D Substitution - Missense 23:27747614-27747614 + PD4844a COSM5771477 c.573T>G p.L191L Substitution - coding silent 23:27747567-27747567 + TCGA-DG-A2KK-01 COSM4828329 c.131C>T p.S44L Substitution - Missense 23:27747026-27747026 + 2296_T COSM3965084 c.530G>C p.G177A Substitution - Missense 23:27747524-27747524 + TCGA-BS-A0UA-01 COSM1119630 c.556C>T p.R186C Substitution - Missense 23:27747550-27747550 + TCGA-EE-A3AD-06 COSM3560642 c.1463C>T p.P488L Substitution - Missense 23:27748457-27748457 + CSCC-35-T COSM4547641 c.427G>A p.E143K Substitution - Missense 23:27747322-27747322 + TCGA-BH-A0H0-01 COSM5216564 c.13G>A p.E5K Substitution - Missense 23:27746908-27746908 + S00935 COSM5663120 c.1629C>A p.D543E Substitution - Missense 23:27748623-27748623 + S00472 COSM5658050 c.1606G>T p.D536Y Substitution - Missense 23:27748501-27748501 + TCGA-D1-A16X-01 COSM457309 c.468C>T p.V156V Substitution - coding silent 23:27747462-27747462 + 2492722 COSM222427 c.392C>T p.S131L Substitution - Missense 23:27747386-27747386 + TCGA-DC-5869-01 COSM5224728 c.388_399del12 p.E144_E147delEEEE Deletion - In frame 23:27747283-27747294 + TCGA-EK-A2PG-01 COSM4819209 c.650G>A p.R217H Substitution - Missense 23:27747545-27747545 + LUAD-S01404 COSM404521 c.551G>T p.R184L Substitution - Missense 23:27747545-27747545 + TCGA-BF-A1PZ-01 COSM4399272 c.738C>T p.F246F Substitution - coding silent 23:27747732-27747732 + TCGA-EB-A5UN-06 COSM3560643 c.1592G>A p.R531Q Substitution - Missense 23:27748586-27748586 + 12M COSM5577397 c.1745C>T p.S582L Substitution - Missense 23:27748739-27748739 + SC_9072 COSM5563675 c.1165C>A p.Q389K Substitution - Missense 23:27748060-27748060 + TCGA-D3-A51G-06 COSM3560637 c.1092G>A p.R364R Substitution - coding silent 23:27748086-27748086 + PTC-6C COSM4156784 c.291G>A p.E97E Substitution - coding silent 23:27747285-27747285 + TCGA-B5-A0JY-01 COSM1119649 c.1775G>A p.R592Q Substitution - Missense 23:27748769-27748769 + YUSCA COSM5412504 c.1874G>A p.R625Q Substitution - Missense 23:27748769-27748769 + TCGA-A5-A0G9-01 COSM1119634 c.867C>T p.H289H Substitution - coding silent 23:27747861-27747861 + TCGA-14-0790-01 COSM3406252 c.539C>A p.A180D Substitution - Missense 23:27747533-27747533 + BD36T COSM5509154 c.373G>A p.G125S Substitution - Missense 23:27747367-27747367 + ESCC_159 COSM5647211 c.516G>A p.E172E Substitution - coding silent 23:27747411-27747411 + LUAD-NYU802 COSM376424 c.1076G>A p.R359K Substitution - Missense 23:27748070-27748070 + CPCG0003-F1 COSM4966667 c.1605T>C p.H535H Substitution - coding silent 23:27748500-27748500 + LUAD-NYU669 COSM375922 c.1486G>T p.A496S Substitution - Missense 23:27748480-27748480 + TCGA-F4-6856-01 COSM5173962 c.886C>A p.Q296K Substitution - Missense 23:27747781-27747781 + LUAD-S01413 COSM388312 c.1789C>A p.P597T Substitution - Missense 23:27748783-27748783 + 49M COSM5590468 c.212G>A p.R71Q Substitution - Missense 23:27747107-27747107 + CSCC-44-T COSM4455142 c.578A>T p.D193V Substitution - Missense 23:27747572-27747572 + S02344 COSM5693956 c.711C>A p.N237K Substitution - Missense 23:27747606-27747606 + Pat_40_B COSM5877703 c.1301G>A p.R434K Substitution - Missense 23:27748295-27748295 + TCGA-AP-A0LM-01 COSM1119631 c.557G>A p.R186H Substitution - Missense 23:27747551-27747551 + TCGA-B5-A0JY-01 COSM1119639 c.1142A>G p.H381R Substitution - Missense 23:27748136-27748136 + CSCC-52-T COSM4497819 c.406C>T p.Q136* Substitution - Nonsense 23:27747400-27747400 + CHC2141T COSM4790228 c.1788G>C p.W596C Substitution - Missense 23:27748683-27748683 + MedB-1 COSM5620627 c.1138T>C p.Y380H Substitution - Missense 23:27748033-27748033 + UM-SCC-4 COSM4591995 c.427_435delGAGGAGGAA p.E145_E147delEEE Deletion - In frame 23:27747322-27747330 + 2521260 COSM5891561 c.247G>A p.E83K Substitution - Missense 23:27747142-27747142 + S00472 COSM5658051 c.1507G>T p.D503Y Substitution - Missense 23:27748501-27748501 + PDA_029 COSM1557205 c.934A>G p.T312A Substitution - Missense 23:27747928-27747928 + TCGA-AM-5821-01 COSM5831263 c.1764G>A p.T588T Substitution - coding silent 23:27748659-27748659 + PDA_099 COSM5003403 c.1226A>G p.K409R Substitution - Missense 23:27748121-27748121 + TCGA-28-5215-01 COSM3406251 c.451C>T p.R151* Substitution - Nonsense 23:27747445-27747445 + 304_T COSM3965086 c.796G>A p.V266I Substitution - Missense 23:27747790-27747790 + 2492723 COSM5590469 c.491C>T p.S164L Substitution - Missense 23:27747386-27747386 + TCGA-B2-4102-01 COSM1138121 c.1665G>A p.T555T Substitution - coding silent 23:27748659-27748659 + ME002T COSM222428 c.1217C>T p.A406V Substitution - Missense 23:27748211-27748211 + TCGA-B5-A0JT-01 COSM1119636 c.1029C>T p.P343P Substitution - coding silent 23:27748023-27748023 + UM-SCC-4 COSM4591996 c.328_336delGAGGAGGAA p.E112_E114delEEE Deletion - In frame 23:27747322-27747330 + TCGA-CK-4950-01 COSM5139181 c.399G>A p.E133E Substitution - coding silent 23:27747294-27747294 + TCGA-AP-A0LE-01 COSM388312 c.1789C>A p.P597T Substitution - Missense 23:27748783-27748783 + TCGA-B0-5085-01 COSM488278 c.1322G>T p.G441V Substitution - Missense 23:27748316-27748316 + TCGA-DG-A2KK-01 COSM4828328 c.131C>T p.S44L Substitution - Missense 23:27747026-27747026 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.720873;Hs.720876;Hs.720877;Hs.720881;Hs.720884;Hs.720885 Xp21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D329G c.986A>G X 27765998 UCEC A G Missense p.I39V c.115A>G X 27765127 UCEC A G Missense p.T16A c.46A>G X 27765058 CM A G Synonymous p.E129E c.387A>G X 27765399 BRCA A G Synonymous p.E403E c.1209A>G X 27766221 UCEC - ATACAA MultiAAMissense p.E137delinsDTK c.410_411insTACAAA X 27765421 RCCC A T IntronicSNV . c.1-22557A>T X 27742456 CLL C A Missense p.A213D c.638C>A X 27765650 GBM C A Missense p.L437M c.1309C>A X 27766321 PRAD C A Missense p.L550I c.1648C>A X 27766660 LUAD C A Missense p.P630T c.1888C>A X 27766900 UCEC C G Missense p.A439G c.1316C>G X 27766328 BLCA C G Missense p.A601G c.1802C>G X 27766814 HNSC C T CdsStopSNV . c.1893C>T X 27766905 CM C T Missense p.A439V c.1316C>T X 27766328 CM C T Missense p.A529V c.1586C>T X 27766598 LUAD C T Missense p.P331L c.992C>T X 27766004 LUAD C T Missense p.P376S c.1126C>T X 27766138 CM C T Missense p.P521L c.1562C>T X 27766574 CM C T Missense p.R219C c.655C>T X 27765667 UCEC C T Missense p.T588M c.1763C>T X 27766775 RCCC C T Nonsense p.R184* c.550C>T X 27765562 GBM C T Synonymous p.F279F c.837C>T X 27765849 CM C T Synonymous p.F344F c.1032C>T X 27766044 CM C T Synonymous p.F411F c.1233C>T X 27766245 CM C T Synonymous p.F495F c.1485C>T X 27766497 CM C T Synonymous p.H322H c.966C>T X 27765978 UCEC C T Synonymous p.I425I c.1275C>T X 27766287 CM C T Synonymous p.L335L c.1005C>T X 27766017 CM C T Synonymous p.P376P c.1128C>T X 27766140 UCEC C T Synonymous p.V189V c.567C>T X 27765579 BRCA G A Missense p.D565N c.1693G>A X 27766705 CM G A Missense p.E267K c.799G>A X 27765811 CM G A Missense p.E5K c.13G>A X 27765025 BRCA G A Missense p.G15R c.43G>A X 27765055 LUAD G A Missense p.R564Q c.1691G>A X 27766703 CM G A Synonymous p.E142E c.426G>A X 27765438 BRCA G A Synonymous p.K401K c.1203G>A X 27766215 CM G A Synonymous p.Q260Q c.780G>A X 27765792 BRCA G A Synonymous p.R397R c.1191G>A X 27766203 CM G A Synonymous p.R481R c.1443G>A X 27766455 CM G A Synonymous p.R481R c.1443G>A X 27766455 LUAD G C IntronicSNV . c.1-3523G>C X 27761490 PIA G C Missense p.W257C c.771G>C X 27765783 LUAD G T IntronicSNV . c.1-106292G>T X 27658721 CLL G T IntronicSNV . c.1-22558G>T X 27742455 CLL G T Missense p.G210V c.629G>T X 27765641 UCEC G T Missense p.G385C c.1153G>T X 27766165 GBM G T Missense p.G474V c.1421G>T X 27766433 RCCC G T Missense p.M290I c.870G>T X 27765882 HNSC G T Synonymous p.V367V c.1101G>T X 27766113 HNSC T A IntronicSNV . c.1-61481T>A X 27703532 CLL TCC - IntronicDeletion . c.1-3261_1-3259delTCC X 27761752 CLL T C Synonymous p.G514G c.1542T>C X 27766554 CM TCT - InFrameDeletion p.F496delF c.1487_1489delTCT X 27766493 STAD T G IntronicSNV . c.1-72581T>G X 27692432 CLL T G IntronicSNV . c.1-79068T>G X 27685945 CLL