Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 50941244 50941244 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr1:50941244C>T c.1761G>A c.(1759-1761)gaG>gaA p.E587E BLCA 1 50956338 50956338 + Splice_Site SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr1:50956338C>G c.e17-1 BLCA 1 51005271 51005271 + Silent SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr1:51005271C>T c.1398G>A c.(1396-1398)gtG>gtA p.V466V BLCA 1 51005322 51005322 + Silent SNP C C A TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr1:51005322C>A c.1347G>T c.(1345-1347)ccG>ccT p.P449P BLCA 1 51032798 51032798 + Missense_Mutation SNP T T G TCGA-GU-A764-01A-11D-A34U-08 TCGA-GU-A764-10B-01D-A34X-08 g.chr1:51032798T>G c.1219A>C c.(1219-1221)Aat>Cat p.N407H BLCA 1 51048316 51048316 + Missense_Mutation SNP C C G TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr1:51048316C>G c.1087G>C c.(1087-1089)Gag>Cag p.E363Q BLCA 1 51050454 51050454 + Silent SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr1:51050454A>G c.870T>C c.(868-870)gaT>gaC p.D290D BLCA 1 51253723 51253723 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr1:51253723C>G c.316G>C c.(316-318)Gaa>Caa p.E106Q BRCA 1 50907117 50907117 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:50907117C>G c.1948G>C c.(1948-1950)Gag>Cag p.E650Q BRCA 1 50907189 50907189 + Nonsense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 g.chr1:50907189G>A c.1876C>T c.(1876-1878)Caa>Taa p.Q626* BRCA 1 50956274 50956274 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr1:50956274C>G c.1639G>C c.(1639-1641)Gaa>Caa p.E547Q BRCA 1 51048354 51048354 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 g.chr1:51048354G>T c.1049C>A c.(1048-1050)cCt>cAt p.P350H BRCA 1 51050413 51050413 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:51050413A>C c.911T>G c.(910-912)gTg>gGg p.V304G BRCA 1 51253812 51253812 + Frame_Shift_Del DEL G G - TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:51253812delG c.227delC c.(226-228)cctfs p.P76fs BRCA 1 51253875 51253875 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:51253875T>G c.164A>C c.(163-165)gAa>gCa p.E55A CESC 1 50956315 50956316 + Frame_Shift_Ins INS - - TC TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 g.chr1:50956315_50956316insTC c.1597_1598insGA c.(1597-1599)atgfs p.M533fs CESC 1 51032844 51032844 + Nonsense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 g.chr1:51032844G>T c.1173C>A c.(1171-1173)tgC>tgA p.C391* CESC 1 51171511 51171511 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 g.chr1:51171511C>T c.604G>A c.(604-606)Gaa>Aaa p.E202K CESC 1 51204625 51204625 + Splice_Site SNP G G T TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 g.chr1:51204625G>T c.461C>A c.(460-462)aCg>aAg p.T154K COAD 1 50941200 50941200 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:50941200A>C c.1805T>G c.(1804-1806)tTt>tGt p.F602C COAD 1 50956266 50956266 + Missense_Mutation SNP T T G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:50956266T>G c.1647A>C c.(1645-1647)gaA>gaC p.E549D COAD 1 51005335 51005335 + Missense_Mutation SNP G G A TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr1:51005335G>A c.1334C>T c.(1333-1335)aCg>aTg p.T445M COAD 1 51049377 51049377 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:51049377G>A c.978C>T c.(976-978)aaC>aaT p.N326N COAD 1 51050425 51050425 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:51050425G>A c.899C>T c.(898-900)aCa>aTa p.T300I COAD 1 51061809 51061809 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:51061809C>T c.824G>A c.(823-825)cGg>cAg p.R275Q COAD 1 51171474 51171474 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:51171474C>T c.641G>A c.(640-642)aGc>aAc p.S214N COAD 1 51171544 51171544 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:51171544T>G c.571A>C c.(571-573)Aat>Cat p.N191H COAD 1 51210408 51210408 + Missense_Mutation SNP G G T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:51210408G>T c.407C>A c.(406-408)cCt>cAt p.P136H COAD 1 51253772 51253772 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr1:51253772T>C c.267A>G c.(265-267)ccA>ccG p.P89P COAD 1 51253773 51253773 + Missense_Mutation SNP G G T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:51253773G>T c.266C>A c.(265-267)cCa>cAa p.P89Q COAD 1 51253782 51253782 + Frame_Shift_Del DEL G G - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:51253782delG c.257delC c.(256-258)cctfs p.P86fs COAD 1 51323641 51323641 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:51323641T>C c.74A>G c.(73-75)gAa>gGa p.E25G COADREAD 1 50941200 50941200 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:50941200A>C c.1805T>G c.(1804-1806)tTt>tGt p.F602C COADREAD 1 50956266 50956266 + Missense_Mutation SNP T T G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:50956266T>G c.1647A>C c.(1645-1647)gaA>gaC p.E549D COADREAD 1 51005335 51005335 + Missense_Mutation SNP G G A TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr1:51005335G>A c.1334C>T c.(1333-1335)aCg>aTg p.T445M COADREAD 1 51049377 51049377 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:51049377G>A c.978C>T c.(976-978)aaC>aaT p.N326N COADREAD 1 51050425 51050425 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:51050425G>A c.899C>T c.(898-900)aCa>aTa p.T300I COADREAD 1 51061809 51061809 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:51061809C>T c.824G>A c.(823-825)cGg>cAg p.R275Q COADREAD 1 51171474 51171474 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:51171474C>T c.641G>A c.(640-642)aGc>aAc p.S214N COADREAD 1 51171544 51171544 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:51171544T>G c.571A>C c.(571-573)Aat>Cat p.N191H COADREAD 1 51210408 51210408 + Missense_Mutation SNP G G T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:51210408G>T c.407C>A c.(406-408)cCt>cAt p.P136H COADREAD 1 51253772 51253772 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr1:51253772T>C c.267A>G c.(265-267)ccA>ccG p.P89P COADREAD 1 51253773 51253773 + Missense_Mutation SNP G G T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:51253773G>T c.266C>A c.(265-267)cCa>cAa p.P89Q COADREAD 1 51253782 51253782 + Frame_Shift_Del DEL G G - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:51253782delG c.257delC c.(256-258)cctfs p.P86fs COADREAD 1 51323641 51323641 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:51323641T>C c.74A>G c.(73-75)gAa>gGa p.E25G DLBC 1 51121170 51121170 + Missense_Mutation SNP T T A TCGA-FF-A7CR-01A-11D-A382-10 TCGA-FF-A7CR-10A-01D-A385-10 g.chr1:51121170T>A c.688A>T c.(688-690)Atc>Ttc p.I230F ESCA 1 50941345 50941345 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 g.chr1:50941345G>A c.1660C>T c.(1660-1662)Cgg>Tgg p.R554W ESCA 1 51001111 51001111 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr1:51001111T>A c.1424A>T c.(1423-1425)gAg>gTg p.E475V ESCA 1 51210386 51210386 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr1:51210386delT c.429delA c.(427-429)aaafs p.K143fs GBM 1 51001131 51001131 + Splice_Site SNP T T C TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr1:51001131T>C c.e15-2 GBMLGG 1 50907162 50907162 + Frame_Shift_Del DEL C C - TCGA-FG-8191-01A-11D-2253-08 TCGA-FG-8191-10A-01D-2253-08 g.chr1:50907162delC c.1903delG c.(1903-1905)gagfs p.E635fs GBMLGG 1 51001131 51001131 + Splice_Site SNP T T C TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr1:51001131T>C c.e15-2 GBMLGG 1 51061795 51061795 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:51061795C>T c.838G>A c.(838-840)Gaa>Aaa p.E280K GBMLGG 1 51210375 51210375 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:51210375G>A c.440C>T c.(439-441)aCg>aTg p.T147M HNSC 1 51049377 51049377 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 g.chr1:51049377G>A c.978C>T c.(976-978)aaC>aaT p.N326N HNSC 1 51050366 51050367 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr1:51050366_51050367insT c.957_958insA c.(955-960)aaatctfs p.S320fs HNSC 1 51050456 51050456 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr1:51050456C>T c.868G>A c.(868-870)Gat>Aat p.D290N KIPAN 1 50941223 50941223 + Silent SNP G G A TCGA-B0-4846-01A-01D-1361-10 TCGA-B0-4846-11A-01D-1361-10 g.chr1:50941223G>A c.1782C>T c.(1780-1782)aaC>aaT p.N594N KIPAN 1 50956260 50956260 + Splice_Site SNP C C T TCGA-CJ-5676-01A-11D-1534-10 TCGA-CJ-5676-11A-01D-1534-10 g.chr1:50956260C>T c.1653G>A c.(1651-1653)gaG>gaA p.E551E KIPAN 1 51253751 51253751 + Silent SNP C C T TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr1:51253751C>T c.288G>A c.(286-288)agG>agA p.R96R KIRC 1 50941223 50941223 + Silent SNP G G A TCGA-B0-4846-01A-01D-1361-10 TCGA-B0-4846-11A-01D-1361-10 g.chr1:50941223G>A c.1782C>T c.(1780-1782)aaC>aaT p.N594N KIRC 1 50956260 50956260 + Splice_Site SNP C C T TCGA-CJ-5676-01A-11D-1534-10 TCGA-CJ-5676-11A-01D-1534-10 g.chr1:50956260C>T c.1653G>A c.(1651-1653)gaG>gaA p.E551E KIRP 1 51253751 51253751 + Silent SNP C C T TCGA-IA-A83V-01A-11D-A34Z-10 TCGA-IA-A83V-11A-11D-A34Z-10 g.chr1:51253751C>T c.288G>A c.(286-288)agG>agA p.R96R LGG 1 50907162 50907162 + Frame_Shift_Del DEL C C - TCGA-FG-8191-01A-11D-2253-08 TCGA-FG-8191-10A-01D-2253-08 g.chr1:50907162delC c.1903delG c.(1903-1905)gagfs p.E635fs LGG 1 51061795 51061795 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:51061795C>T c.838G>A c.(838-840)Gaa>Aaa p.E280K LGG 1 51210375 51210375 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:51210375G>A c.440C>T c.(439-441)aCg>aTg p.T147M LIHC 1 50941209 50941209 + Missense_Mutation SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr1:50941209A>G c.1796T>C c.(1795-1797)gTc>gCc p.V599A LIHC 1 51210403 51210403 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr1:51210403A>G c.412T>C c.(412-414)Tcc>Ccc p.S138P LIHC 1 51323604 51323604 + Missense_Mutation SNP T T A TCGA-ED-A7XO-01A-11D-A34Z-10 TCGA-ED-A7XO-10A-01D-A34Z-10 g.chr1:51323604T>A c.111A>T c.(109-111)ttA>ttT p.L37F LUAD 1 50941174 50941174 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr1:50941174C>A c.1831G>T c.(1831-1833)Gat>Tat p.D611Y LUAD 1 50941222 50941222 + Missense_Mutation SNP T T G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr1:50941222T>G c.1783A>C c.(1783-1785)Aag>Cag p.K595Q LUAD 1 50941260 50941260 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:50941260C>A c.1745G>T c.(1744-1746)aGt>aTt p.S582I LUAD 1 50941262 50941262 + Silent SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 g.chr1:50941262G>A c.1743C>T c.(1741-1743)ccC>ccT p.P581P LUAD 1 50957420 50957420 + Silent SNP G G A TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr1:50957420G>A c.1548C>T c.(1546-1548)cgC>cgT p.R516R LUAD 1 51001120 51001120 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr1:51001120G>A c.1415C>T c.(1414-1416)aCa>aTa p.T472I LUAD 1 51005287 51005287 + Missense_Mutation SNP T T C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr1:51005287T>C c.1382A>G c.(1381-1383)aAt>aGt p.N461S LUAD 1 51049383 51049383 + Silent SNP T T A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:51049383T>A c.972A>T c.(970-972)ccA>ccT p.P324P LUAD 1 51050411 51050411 + Missense_Mutation SNP C C G TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr1:51050411C>G c.913G>C c.(913-915)Gat>Cat p.D305H LUAD 1 51171477 51171477 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:51171477C>A c.638G>T c.(637-639)gGa>gTa p.G213V LUAD 1 51171478 51171478 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr1:51171478C>A c.637G>T c.(637-639)Gga>Tga p.G213* LUAD 1 51253830 51253830 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr1:51253830C>G c.209G>C c.(208-210)aGt>aCt p.S70T LUAD 1 51323665 51323665 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr1:51323665C>A c.50G>T c.(49-51)tGt>tTt p.C17F LUSC 1 50957443 50957443 + Missense_Mutation SNP T T C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr1:50957443T>C c.1525A>G c.(1525-1527)Aga>Gga p.R509G OV 1 50941337 50941337 + Silent SNP G G C TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 g.chr1:50941337G>C c.1668C>G c.(1666-1668)tcC>tcG p.S556S PAAD 1 50941256 50941256 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:50941256G>A c.1749C>T c.(1747-1749)ggC>ggT p.G583G PAAD 1 51005376 51005376 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:51005376G>T c.1293C>A c.(1291-1293)caC>caA p.H431Q PCPG 1 51121170 51121170 + Missense_Mutation SNP T T C TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 g.chr1:51121170T>C c.688A>G c.(688-690)Atc>Gtc p.I230V PRAD 1 50957466 50957466 + Missense_Mutation SNP C C T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 g.chr1:50957466C>T c.1502G>A c.(1501-1503)cGt>cAt p.R501H PRAD 1 51048295 51048295 + Nonsense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 g.chr1:51048295G>A c.1108C>T c.(1108-1110)Cga>Tga p.R370* PRAD 1 51049325 51049325 + Splice_Site SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 g.chr1:51049325T>C c.1030A>G c.(1030-1032)Aga>Gga p.R344G PRAD 1 51253785 51253785 + Missense_Mutation SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 g.chr1:51253785C>T c.254G>A c.(253-255)cGa>cAa p.R85Q SARC 1 50941264 50941264 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr1:50941264G>A c.1741C>T c.(1741-1743)Ccc>Tcc p.P581S SARC 1 51121153 51121153 + Silent SNP T T C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 g.chr1:51121153T>C c.705A>G c.(703-705)caA>caG p.Q235Q SKCM 1 50907144 50907145 + Frame_Shift_Del DEL GA GA - TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:50907144_50907145delGA c.1920_1921delTC c.(1918-1923)cctcaafs p.Q641fs SKCM 1 50941337 50941337 + Silent SNP G G A TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr1:50941337G>A c.1668C>T c.(1666-1668)tcC>tcT p.S556S SKCM 1 50957438 50957439 + Frame_Shift_Del DEL CT CT - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr1:50957438_50957439delCT c.1529_1530delAG c.(1528-1530)gagfs p.E510fs SKCM 1 51032830 51032830 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr1:51032830C>A c.1187G>T c.(1186-1188)tGt>tTt p.C396F SKCM 1 51048346 51048346 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:51048346A>T c.1057T>A c.(1057-1059)Ttt>Att p.F353I SKCM 1 51061849 51061849 + Nonsense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:51061849G>A c.784C>T c.(784-786)Cga>Tga p.R262* SKCM 1 51121201 51121201 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:51121201C>T c.e8-1 SKCM 1 51204578 51204578 + Missense_Mutation SNP G G A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr1:51204578G>A c.508C>T c.(508-510)Ctt>Ttt p.L170F SKCM 1 51323654 51323654 + Nonsense_Mutation SNP C C A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr1:51323654C>A c.61G>T c.(61-63)Gaa>Taa p.E21* SKCM 1 51425473 51425473 + Missense_Mutation SNP T T C TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:51425473T>C c.11A>G c.(10-12)aAc>aGc p.N4S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 51050385 51050385 single base substitution C A exon_variant BLCA-CN 1 51050385 51050385 single base substitution C A synonymous_variant A313A 939G>T BLCA-CN 1 51050385 51050385 single base substitution C A synonymous_variant A71A 213G>T BLCA-US 1 50941244 50941244 single base substitution C T exon_variant BLCA-US 1 50941244 50941244 single base substitution C T synonymous_variant E345E 1035G>A BLCA-US 1 50941244 50941244 single base substitution C T synonymous_variant E587E 1761G>A BLCA-US 1 50956338 50956338 single base substitution C G splice_acceptor_variant BOCA-FR 1 51006192 51006192 single base substitution A G intron_variant BOCA-FR 1 51164775 51164775 single base substitution C T intron_variant BOCA-FR 1 51344180 51344180 single base substitution A T intron_variant BOCA-UK 1 50956315 50956315 single base substitution A T exon_variant BOCA-UK 1 50956315 50956315 single base substitution A T missense_variant M291K 872T>A BOCA-UK 1 50956315 50956315 single base substitution A T missense_variant M533K 1598T>A BRCA-EU 1 50900414 50900414 single base substitution C T downstream_gene_variant BRCA-EU 1 50900573 50900573 single base substitution C G downstream_gene_variant BRCA-EU 1 50901470 50901470 single base substitution G A downstream_gene_variant BRCA-EU 1 50901510 50901510 single base substitution A G downstream_gene_variant BRCA-EU 1 50901735 50901735 single base substitution T C downstream_gene_variant BRCA-EU 1 50902834 50902834 single base substitution A G downstream_gene_variant BRCA-EU 1 50904107 50904107 single base substitution C T downstream_gene_variant BRCA-EU 1 50904358 50904358 single base substitution C T downstream_gene_variant BRCA-EU 1 50904862 50904862 single base substitution G A downstream_gene_variant BRCA-EU 1 50905370 50905370 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 50905370 50905370 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 50905874 50905874 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 50905874 50905874 single base substitution A C downstream_gene_variant BRCA-EU 1 50906059 50906059 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 50906059 50906059 single base substitution C G downstream_gene_variant BRCA-EU 1 50906187 50906187 single base substitution T G 3_prime_UTR_variant BRCA-EU 1 50906187 50906187 single base substitution T G downstream_gene_variant BRCA-EU 1 50906931 50906931 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 50906931 50906931 single base substitution C G downstream_gene_variant BRCA-EU 1 50907146 50907146 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 50907146 50907146 single base substitution G T missense_variant P398H 1193C>A BRCA-EU 1 50907146 50907146 single base substitution G T missense_variant P640H 1919C>A BRCA-EU 1 50907405 50907405 single base substitution A G intron_variant BRCA-EU 1 50907761 50907761 insertion of <=200bp - A intron_variant BRCA-EU 1 50909842 50909842 single base substitution G A intron_variant BRCA-EU 1 50911581 50911581 single base substitution C G intron_variant BRCA-EU 1 50911637 50911637 single base substitution C T intron_variant BRCA-EU 1 50911875 50911875 single base substitution G A intron_variant BRCA-EU 1 50914409 50914409 single base substitution C T intron_variant BRCA-EU 1 50915401 50915401 single base substitution C T intron_variant BRCA-EU 1 50915659 50915659 single base substitution G C intron_variant BRCA-EU 1 50916062 50916062 single base substitution G T intron_variant BRCA-EU 1 50916901 50916901 single base substitution G C intron_variant BRCA-EU 1 50917007 50917007 single base substitution G T intron_variant BRCA-EU 1 50917683 50917683 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 50917683 50917683 single base substitution A C intron_variant BRCA-EU 1 50919634 50919634 single base substitution C G intron_variant BRCA-EU 1 50921859 50921859 single base substitution G T intron_variant BRCA-EU 1 50922597 50922597 deletion of <=200bp A - intron_variant BRCA-EU 1 50925997 50925997 single base substitution A G intron_variant BRCA-EU 1 50927659 50927659 single base substitution T C intron_variant BRCA-EU 1 50928996 50928996 single base substitution T C intron_variant BRCA-EU 1 50932485 50932485 single base substitution C A intron_variant BRCA-EU 1 50933696 50933696 single base substitution C T intron_variant BRCA-EU 1 50935324 50935324 single base substitution A G intron_variant BRCA-EU 1 50940433 50940433 single base substitution C T intron_variant BRCA-EU 1 50941011 50941011 single base substitution G C intron_variant BRCA-EU 1 50941087 50941087 single base substitution G A intron_variant BRCA-EU 1 50942217 50942217 single base substitution G A intron_variant BRCA-EU 1 50942293 50942293 deletion of <=200bp G - intron_variant BRCA-EU 1 50942326 50942326 single base substitution C G intron_variant BRCA-EU 1 50942971 50942971 deletion of <=200bp T - intron_variant BRCA-EU 1 50944166 50944166 single base substitution G A intron_variant BRCA-EU 1 50945481 50945481 single base substitution T A intron_variant BRCA-EU 1 50946497 50946497 single base substitution G A intron_variant BRCA-EU 1 50948900 50948900 single base substitution C G intron_variant BRCA-EU 1 50948934 50948934 single base substitution C A intron_variant BRCA-EU 1 50949029 50949029 deletion of <=200bp T - intron_variant BRCA-EU 1 50949510 50949510 single base substitution T C intron_variant BRCA-EU 1 50950226 50950226 single base substitution C A intron_variant BRCA-EU 1 50952216 50952216 single base substitution C T intron_variant BRCA-EU 1 50953412 50953435 deletion of <=200bp AGAATATTGAAGATAATCAAAACA - intron_variant BRCA-EU 1 50956720 50956720 single base substitution G A intron_variant BRCA-EU 1 50957082 50957082 single base substitution C G intron_variant BRCA-EU 1 50957889 50957889 single base substitution C T intron_variant BRCA-EU 1 50958155 50958155 single base substitution C T intron_variant BRCA-EU 1 50959126 50959126 single base substitution G T intron_variant BRCA-EU 1 50959266 50959266 deletion of <=200bp T - intron_variant BRCA-EU 1 50959542 50959542 deletion of <=200bp A - intron_variant BRCA-EU 1 50959617 50959632 deletion of <=200bp AAACAGCTCTGTTGTA - intron_variant BRCA-EU 1 50960415 50960415 single base substitution C T intron_variant BRCA-EU 1 50964081 50964081 single base substitution C G intron_variant BRCA-EU 1 50971949 50971949 single base substitution T A intron_variant BRCA-EU 1 50972658 50972658 single base substitution G A intron_variant BRCA-EU 1 50974150 50974150 deletion of <=200bp A - intron_variant BRCA-EU 1 50974490 50974490 single base substitution C T intron_variant BRCA-EU 1 50975003 50975003 single base substitution G C intron_variant BRCA-EU 1 50975958 50975958 single base substitution C A intron_variant BRCA-EU 1 50976328 50976328 single base substitution C T intron_variant BRCA-EU 1 50976439 50976439 deletion of <=200bp T - intron_variant BRCA-EU 1 50976584 50976584 single base substitution T C intron_variant BRCA-EU 1 50977129 50977129 single base substitution C G intron_variant BRCA-EU 1 50978245 50978245 single base substitution G A intron_variant BRCA-EU 1 50978522 50978522 single base substitution A G intron_variant BRCA-EU 1 50978657 50978657 single base substitution G A intron_variant BRCA-EU 1 50980237 50980237 single base substitution T C intron_variant BRCA-EU 1 50981360 50981360 single base substitution G C intron_variant BRCA-EU 1 50982323 50982323 single base substitution T C intron_variant BRCA-EU 1 50984302 50984302 single base substitution C T intron_variant BRCA-EU 1 50984780 50984780 single base substitution A C intron_variant BRCA-EU 1 50985951 50985976 deletion of <=200bp AGATAATTCTCAGTATCCCCCATGAG - intron_variant BRCA-EU 1 50986539 50986539 single base substitution C T intron_variant BRCA-EU 1 50988140 50988140 single base substitution C G intron_variant BRCA-EU 1 50990385 50990385 single base substitution C T intron_variant BRCA-EU 1 50990656 50990656 single base substitution C G intron_variant BRCA-EU 1 50990678 50990678 single base substitution C A intron_variant BRCA-EU 1 50990764 50990764 single base substitution G A intron_variant BRCA-EU 1 50991873 50991873 single base substitution C G intron_variant BRCA-EU 1 50995194 50995194 single base substitution A T intron_variant BRCA-EU 1 50996058 50996058 single base substitution C G intron_variant BRCA-EU 1 50996356 50996356 single base substitution T C intron_variant BRCA-EU 1 50996453 50996453 single base substitution A T intron_variant BRCA-EU 1 50997308 50997308 single base substitution T G intron_variant BRCA-EU 1 50997960 50997960 single base substitution G A intron_variant BRCA-EU 1 50998538 50998538 single base substitution T C intron_variant BRCA-EU 1 50999635 50999635 single base substitution C G intron_variant BRCA-EU 1 51000752 51000752 single base substitution C G downstream_gene_variant BRCA-EU 1 51000752 51000752 single base substitution C G intron_variant BRCA-EU 1 51001814 51001814 single base substitution T C downstream_gene_variant BRCA-EU 1 51001814 51001814 single base substitution T C intron_variant BRCA-EU 1 51004866 51004866 single base substitution C G downstream_gene_variant BRCA-EU 1 51004866 51004866 single base substitution C G intron_variant BRCA-EU 1 51006600 51006600 single base substitution C T intron_variant BRCA-EU 1 51008716 51008716 single base substitution G C intron_variant BRCA-EU 1 51009794 51009794 single base substitution C T intron_variant BRCA-EU 1 51010705 51010705 insertion of <=200bp - A intron_variant BRCA-EU 1 51011419 51011419 deletion of <=200bp A - intron_variant BRCA-EU 1 51011429 51011429 single base substitution A C intron_variant BRCA-EU 1 51012056 51012056 single base substitution G C intron_variant BRCA-EU 1 51012527 51012527 deletion of <=200bp A - intron_variant BRCA-EU 1 51014951 51014951 single base substitution A G intron_variant BRCA-EU 1 51016721 51016721 single base substitution C A intron_variant BRCA-EU 1 51016838 51016838 single base substitution G A intron_variant BRCA-EU 1 51016952 51016952 single base substitution C G intron_variant BRCA-EU 1 51017333 51017333 single base substitution C A intron_variant BRCA-EU 1 51017450 51017450 single base substitution C T intron_variant BRCA-EU 1 51017494 51017494 single base substitution C G intron_variant BRCA-EU 1 51018389 51018389 single base substitution C G intron_variant BRCA-EU 1 51018749 51018749 single base substitution T C intron_variant BRCA-EU 1 51019037 51019037 single base substitution C G intron_variant BRCA-EU 1 51019043 51019043 single base substitution T G intron_variant BRCA-EU 1 51020426 51020426 single base substitution G A intron_variant BRCA-EU 1 51020814 51020814 single base substitution G A intron_variant BRCA-EU 1 51022768 51022768 single base substitution G C intron_variant BRCA-EU 1 51024357 51024357 single base substitution G A intron_variant BRCA-EU 1 51024891 51024891 single base substitution C G intron_variant BRCA-EU 1 51026138 51026138 insertion of <=200bp - AATTT intron_variant BRCA-EU 1 51026930 51026930 single base substitution G C intron_variant BRCA-EU 1 51027490 51027490 single base substitution C T intron_variant BRCA-EU 1 51028257 51028257 single base substitution C G intron_variant BRCA-EU 1 51030072 51030072 single base substitution G A intron_variant BRCA-EU 1 51030498 51030498 single base substitution C G intron_variant BRCA-EU 1 51032222 51032222 deletion of <=200bp T - intron_variant BRCA-EU 1 51034137 51034137 single base substitution C T intron_variant BRCA-EU 1 51035283 51035283 single base substitution G A intron_variant BRCA-EU 1 51035827 51035827 single base substitution G C intron_variant BRCA-EU 1 51035926 51035926 single base substitution G C intron_variant BRCA-EU 1 51035950 51035954 deletion of <=200bp TGAGA - intron_variant BRCA-EU 1 51036111 51036111 single base substitution G A intron_variant BRCA-EU 1 51036968 51036968 single base substitution C A intron_variant BRCA-EU 1 51037579 51037579 single base substitution A G intron_variant BRCA-EU 1 51038534 51038534 deletion of <=200bp A - intron_variant BRCA-EU 1 51038931 51038931 single base substitution C A intron_variant BRCA-EU 1 51039190 51039190 single base substitution C T intron_variant BRCA-EU 1 51040210 51040210 single base substitution C T intron_variant BRCA-EU 1 51040348 51040348 single base substitution G A intron_variant BRCA-EU 1 51041573 51041573 single base substitution T C intron_variant BRCA-EU 1 51042105 51042105 single base substitution G C intron_variant BRCA-EU 1 51043550 51043550 single base substitution C T intron_variant BRCA-EU 1 51043562 51043562 single base substitution C T intron_variant BRCA-EU 1 51044262 51044262 single base substitution C A intron_variant BRCA-EU 1 51044616 51044616 single base substitution A G intron_variant BRCA-EU 1 51044815 51044815 single base substitution C A intron_variant BRCA-EU 1 51044876 51044876 single base substitution A G intron_variant BRCA-EU 1 51045388 51045388 single base substitution C T intron_variant BRCA-EU 1 51045425 51045425 single base substitution C T intron_variant BRCA-EU 1 51046888 51046897 deletion of <=200bp GCTATTCTTA - intron_variant BRCA-EU 1 51048754 51048754 single base substitution A G intron_variant BRCA-EU 1 51048971 51048971 single base substitution T C intron_variant BRCA-EU 1 51049596 51049596 single base substitution C T intron_variant BRCA-EU 1 51050347 51050347 single base substitution T C intron_variant BRCA-EU 1 51051370 51051370 single base substitution T C intron_variant BRCA-EU 1 51054686 51054686 single base substitution G C intron_variant BRCA-EU 1 51055079 51055079 single base substitution G C intron_variant BRCA-EU 1 51055556 51055556 single base substitution T C intron_variant BRCA-EU 1 51055925 51055925 single base substitution A G intron_variant BRCA-EU 1 51057063 51057063 deletion of <=200bp G - intron_variant BRCA-EU 1 51058114 51058114 single base substitution C T intron_variant BRCA-EU 1 51058159 51058159 single base substitution T C intron_variant BRCA-EU 1 51059279 51059279 deletion of <=200bp A - intron_variant BRCA-EU 1 51059466 51059466 single base substitution C T intron_variant BRCA-EU 1 51059806 51059806 single base substitution G A intron_variant BRCA-EU 1 51060857 51060857 single base substitution G C intron_variant BRCA-EU 1 51064740 51064740 single base substitution C T intron_variant BRCA-EU 1 51066873 51066874 deletion of <=200bp TA - intron_variant BRCA-EU 1 51067237 51067237 single base substitution T C intron_variant BRCA-EU 1 51068944 51068944 single base substitution C G intron_variant BRCA-EU 1 51069134 51069134 single base substitution C G intron_variant BRCA-EU 1 51069892 51069892 single base substitution A C intron_variant BRCA-EU 1 51069919 51069919 single base substitution C T intron_variant BRCA-EU 1 51070574 51070574 single base substitution C G intron_variant BRCA-EU 1 51070673 51070673 single base substitution G T intron_variant BRCA-EU 1 51070820 51070820 single base substitution C G intron_variant BRCA-EU 1 51071117 51071117 single base substitution C G intron_variant BRCA-EU 1 51071678 51071678 single base substitution G A intron_variant BRCA-EU 1 51075002 51075002 single base substitution C A intron_variant BRCA-EU 1 51075002 51075002 single base substitution C A upstream_gene_variant BRCA-EU 1 51075389 51075389 single base substitution G A intron_variant BRCA-EU 1 51075389 51075389 single base substitution G A upstream_gene_variant BRCA-EU 1 51076211 51076211 single base substitution G C intron_variant BRCA-EU 1 51076211 51076211 single base substitution G C upstream_gene_variant BRCA-EU 1 51076508 51076508 single base substitution C G intron_variant BRCA-EU 1 51076508 51076508 single base substitution C G upstream_gene_variant BRCA-EU 1 51079653 51079653 single base substitution C T intron_variant BRCA-EU 1 51079653 51079653 single base substitution C T upstream_gene_variant BRCA-EU 1 51079960 51079960 single base substitution G C intron_variant BRCA-EU 1 51079960 51079960 single base substitution G C upstream_gene_variant BRCA-EU 1 51080726 51080726 single base substitution T C intron_variant BRCA-EU 1 51080726 51080726 single base substitution T C upstream_gene_variant BRCA-EU 1 51081972 51081972 single base substitution G C intron_variant BRCA-EU 1 51081972 51081972 single base substitution G C upstream_gene_variant BRCA-EU 1 51082539 51082539 single base substitution G A intron_variant BRCA-EU 1 51082539 51082539 single base substitution G A upstream_gene_variant BRCA-EU 1 51082857 51082857 single base substitution G C intron_variant BRCA-EU 1 51082857 51082857 single base substitution G C upstream_gene_variant BRCA-EU 1 51083539 51083539 single base substitution C G intron_variant BRCA-EU 1 51083549 51083549 single base substitution C T intron_variant BRCA-EU 1 51085268 51085270 deletion of <=200bp CTG - intron_variant BRCA-EU 1 51085585 51085585 single base substitution T C intron_variant BRCA-EU 1 51086552 51086552 single base substitution T G intron_variant BRCA-EU 1 51089311 51089311 single base substitution C G intron_variant BRCA-EU 1 51089581 51089581 single base substitution G C intron_variant BRCA-EU 1 51090659 51090659 single base substitution C T intron_variant BRCA-EU 1 51093391 51093391 single base substitution T G intron_variant BRCA-EU 1 51093616 51093616 single base substitution G C intron_variant BRCA-EU 1 51093714 51093714 single base substitution G C intron_variant BRCA-EU 1 51095552 51095552 single base substitution G C intron_variant BRCA-EU 1 51097486 51097486 single base substitution T C intron_variant BRCA-EU 1 51098820 51098820 single base substitution T A intron_variant BRCA-EU 1 51099024 51099024 single base substitution A C intron_variant BRCA-EU 1 51099622 51099622 single base substitution C A intron_variant BRCA-EU 1 51100924 51100924 single base substitution A G intron_variant BRCA-EU 1 51101047 51101047 single base substitution G C intron_variant BRCA-EU 1 51103209 51103209 single base substitution A T intron_variant BRCA-EU 1 51103270 51103270 single base substitution G C intron_variant BRCA-EU 1 51103681 51103681 single base substitution T C intron_variant BRCA-EU 1 51105034 51105034 single base substitution C T intron_variant BRCA-EU 1 51105266 51105266 deletion of <=200bp T - intron_variant BRCA-EU 1 51106132 51106132 deletion of <=200bp T - intron_variant BRCA-EU 1 51106902 51106902 single base substitution A C intron_variant BRCA-EU 1 51106964 51106964 single base substitution G A intron_variant BRCA-EU 1 51107309 51107309 single base substitution G C intron_variant BRCA-EU 1 51108373 51108373 deletion of <=200bp T - intron_variant BRCA-EU 1 51109610 51109610 single base substitution A T intron_variant BRCA-EU 1 51110416 51110416 insertion of <=200bp - A intron_variant BRCA-EU 1 51112085 51112085 single base substitution C G intron_variant BRCA-EU 1 51112204 51112204 single base substitution G C intron_variant BRCA-EU 1 51112521 51112521 single base substitution C T intron_variant BRCA-EU 1 51113201 51113201 single base substitution A T intron_variant BRCA-EU 1 51113704 51113704 single base substitution G A intron_variant BRCA-EU 1 51116957 51116957 insertion of <=200bp - A intron_variant BRCA-EU 1 51117029 51117029 single base substitution T A intron_variant BRCA-EU 1 51117105 51117105 single base substitution C G intron_variant BRCA-EU 1 51119044 51119044 single base substitution G A intron_variant BRCA-EU 1 51121513 51121513 single base substitution G A intron_variant BRCA-EU 1 51121523 51121523 single base substitution T C intron_variant BRCA-EU 1 51122996 51122996 single base substitution C G intron_variant BRCA-EU 1 51123308 51123308 single base substitution G T intron_variant BRCA-EU 1 51124342 51124342 single base substitution G A intron_variant BRCA-EU 1 51124898 51124898 single base substitution G C intron_variant BRCA-EU 1 51126514 51126514 single base substitution T C intron_variant BRCA-EU 1 51127234 51127234 single base substitution C G intron_variant BRCA-EU 1 51127396 51127396 single base substitution C T intron_variant BRCA-EU 1 51128857 51128857 insertion of <=200bp - A intron_variant BRCA-EU 1 51128997 51128997 single base substitution C T intron_variant BRCA-EU 1 51129187 51129187 single base substitution G A intron_variant BRCA-EU 1 51129256 51129256 single base substitution T C intron_variant BRCA-EU 1 51129921 51129921 single base substitution G C intron_variant BRCA-EU 1 51131531 51131531 single base substitution G A intron_variant BRCA-EU 1 51132817 51132817 single base substitution G A intron_variant BRCA-EU 1 51134965 51134965 deletion of <=200bp A - intron_variant BRCA-EU 1 51136423 51136423 single base substitution G A intron_variant BRCA-EU 1 51136879 51136879 single base substitution T A intron_variant BRCA-EU 1 51137644 51137644 deletion of <=200bp T - intron_variant BRCA-EU 1 51139123 51139123 single base substitution T C intron_variant BRCA-EU 1 51139768 51139768 single base substitution G A intron_variant BRCA-EU 1 51140006 51140006 single base substitution A T intron_variant BRCA-EU 1 51140839 51140839 single base substitution G C intron_variant BRCA-EU 1 51143336 51143336 single base substitution G C intron_variant BRCA-EU 1 51144919 51144919 single base substitution G C intron_variant BRCA-EU 1 51145913 51145946 deletion of <=200bp AACTTGTTTTTTGGTTTGTTCCCTGCTATACCTT - intron_variant BRCA-EU 1 51146598 51146598 single base substitution T C intron_variant BRCA-EU 1 51146600 51146600 deletion of <=200bp A - intron_variant BRCA-EU 1 51147508 51147508 insertion of <=200bp - T intron_variant BRCA-EU 1 51147732 51147732 single base substitution C T intron_variant BRCA-EU 1 51148033 51148033 single base substitution G C intron_variant BRCA-EU 1 51148187 51148187 single base substitution T C intron_variant BRCA-EU 1 51149202 51149202 single base substitution A T intron_variant BRCA-EU 1 51151008 51151008 single base substitution G C intron_variant BRCA-EU 1 51151612 51151612 single base substitution G A intron_variant BRCA-EU 1 51153188 51153188 single base substitution G A intron_variant BRCA-EU 1 51153392 51153392 single base substitution G A intron_variant BRCA-EU 1 51153717 51153717 single base substitution G A intron_variant BRCA-EU 1 51153812 51153812 single base substitution A T intron_variant BRCA-EU 1 51154274 51154274 single base substitution C T intron_variant BRCA-EU 1 51155377 51155377 single base substitution G C intron_variant BRCA-EU 1 51156548 51156548 single base substitution T C intron_variant BRCA-EU 1 51156634 51156634 single base substitution A C intron_variant BRCA-EU 1 51157607 51157607 single base substitution C T intron_variant BRCA-EU 1 51158479 51158479 single base substitution C T intron_variant BRCA-EU 1 51161264 51161264 single base substitution G C intron_variant BRCA-EU 1 51161801 51161801 single base substitution A C intron_variant BRCA-EU 1 51162337 51162337 single base substitution A T intron_variant BRCA-EU 1 51165193 51165193 insertion of <=200bp - A intron_variant BRCA-EU 1 51166934 51166934 single base substitution A G downstream_gene_variant BRCA-EU 1 51166934 51166934 single base substitution A G intron_variant BRCA-EU 1 51168992 51168992 single base substitution T G downstream_gene_variant BRCA-EU 1 51168992 51168992 single base substitution T G intron_variant BRCA-EU 1 51169568 51169568 single base substitution T C downstream_gene_variant BRCA-EU 1 51169568 51169568 single base substitution T C intron_variant BRCA-EU 1 51170568 51170568 single base substitution G C downstream_gene_variant BRCA-EU 1 51170568 51170568 single base substitution G C intron_variant BRCA-EU 1 51171169 51171171 deletion of <=200bp AAT - downstream_gene_variant BRCA-EU 1 51171169 51171171 deletion of <=200bp AAT - intron_variant BRCA-EU 1 51172851 51172851 single base substitution G A intron_variant BRCA-EU 1 51172851 51172851 single base substitution G A upstream_gene_variant BRCA-EU 1 51173142 51173142 single base substitution G A intron_variant BRCA-EU 1 51173142 51173142 single base substitution G A upstream_gene_variant BRCA-EU 1 51173186 51173186 single base substitution C T intron_variant BRCA-EU 1 51173186 51173186 single base substitution C T upstream_gene_variant BRCA-EU 1 51174441 51174441 single base substitution G C intron_variant BRCA-EU 1 51174441 51174441 single base substitution G C upstream_gene_variant BRCA-EU 1 51176174 51176174 single base substitution C G intron_variant BRCA-EU 1 51176174 51176174 single base substitution C G upstream_gene_variant BRCA-EU 1 51177873 51177873 single base substitution C T intron_variant BRCA-EU 1 51178647 51178647 single base substitution A C intron_variant BRCA-EU 1 51181687 51181687 single base substitution C T intron_variant BRCA-EU 1 51181990 51181990 single base substitution G A intron_variant BRCA-EU 1 51185776 51185776 single base substitution C T intron_variant BRCA-EU 1 51186012 51186012 single base substitution T G intron_variant BRCA-EU 1 51186409 51186409 single base substitution G A intron_variant BRCA-EU 1 51187071 51187071 single base substitution G A intron_variant BRCA-EU 1 51187645 51187645 deletion of <=200bp A - intron_variant BRCA-EU 1 51187750 51187750 single base substitution C G intron_variant BRCA-EU 1 51188222 51188222 single base substitution G A intron_variant BRCA-EU 1 51192935 51192935 single base substitution T C intron_variant BRCA-EU 1 51193327 51193327 single base substitution A G intron_variant BRCA-EU 1 51193414 51193414 single base substitution C G intron_variant BRCA-EU 1 51193455 51193455 single base substitution C G intron_variant BRCA-EU 1 51194163 51194163 single base substitution T C intron_variant BRCA-EU 1 51194418 51194418 single base substitution G A intron_variant BRCA-EU 1 51194991 51194991 single base substitution C T intron_variant BRCA-EU 1 51196650 51196650 single base substitution G T intron_variant BRCA-EU 1 51197771 51197771 single base substitution G C intron_variant BRCA-EU 1 51199291 51199291 single base substitution C T intron_variant BRCA-EU 1 51203020 51203020 single base substitution A G intron_variant BRCA-EU 1 51203048 51203048 single base substitution C A intron_variant BRCA-EU 1 51203541 51203541 single base substitution T C intron_variant BRCA-EU 1 51206199 51206199 single base substitution C T intron_variant BRCA-EU 1 51206881 51206881 single base substitution G C intron_variant BRCA-EU 1 51208720 51208720 single base substitution C T intron_variant BRCA-EU 1 51209257 51209257 single base substitution C T intron_variant BRCA-EU 1 51209413 51209413 deletion of <=200bp T - intron_variant BRCA-EU 1 51209676 51209676 single base substitution G T intron_variant BRCA-EU 1 51210826 51210826 single base substitution A C intron_variant BRCA-EU 1 51211693 51211693 single base substitution G A intron_variant BRCA-EU 1 51212664 51212664 single base substitution C T intron_variant BRCA-EU 1 51213054 51213054 single base substitution G A intron_variant BRCA-EU 1 51213291 51213291 single base substitution A G intron_variant BRCA-EU 1 51214339 51214339 single base substitution A G intron_variant BRCA-EU 1 51222701 51222701 single base substitution T G intron_variant BRCA-EU 1 51222782 51222782 single base substitution G A intron_variant BRCA-EU 1 51222920 51222920 single base substitution G T intron_variant BRCA-EU 1 51223063 51223063 single base substitution C G intron_variant BRCA-EU 1 51223884 51223884 single base substitution C G intron_variant BRCA-EU 1 51225783 51225783 deletion of <=200bp G - intron_variant BRCA-EU 1 51226020 51226020 single base substitution C G intron_variant BRCA-EU 1 51227072 51227072 single base substitution G C intron_variant BRCA-EU 1 51228398 51228398 single base substitution C T intron_variant BRCA-EU 1 51230039 51230039 single base substitution A G intron_variant BRCA-EU 1 51230068 51230068 single base substitution G C intron_variant BRCA-EU 1 51231448 51231448 single base substitution T A intron_variant BRCA-EU 1 51232901 51232901 single base substitution A G intron_variant BRCA-EU 1 51233313 51233313 single base substitution G C intron_variant BRCA-EU 1 51234072 51234072 single base substitution A C intron_variant BRCA-EU 1 51234635 51234635 single base substitution G A intron_variant BRCA-EU 1 51234693 51234693 single base substitution G T intron_variant BRCA-EU 1 51235463 51235463 single base substitution C T intron_variant BRCA-EU 1 51235972 51235972 single base substitution G C intron_variant BRCA-EU 1 51236839 51236839 single base substitution G A intron_variant BRCA-EU 1 51236870 51236870 single base substitution A T intron_variant BRCA-EU 1 51238704 51238704 single base substitution T C intron_variant BRCA-EU 1 51241431 51241431 deletion of <=200bp A - intron_variant BRCA-EU 1 51242941 51242941 single base substitution A T intron_variant BRCA-EU 1 51244138 51244138 single base substitution C T intron_variant BRCA-EU 1 51244703 51244703 single base substitution T C intron_variant BRCA-EU 1 51249234 51249234 single base substitution G A intron_variant BRCA-EU 1 51249739 51249739 single base substitution C T intron_variant BRCA-EU 1 51250482 51250482 single base substitution G C intron_variant BRCA-EU 1 51251995 51251995 single base substitution G A intron_variant BRCA-EU 1 51252442 51252442 single base substitution T A intron_variant BRCA-EU 1 51253113 51253113 single base substitution G T intron_variant BRCA-EU 1 51253602 51253602 deletion of <=200bp A - intron_variant BRCA-EU 1 51253805 51253805 single base substitution G A exon_variant BRCA-EU 1 51253805 51253805 single base substitution G A synonymous_variant S78S 234C>T BRCA-EU 1 51255928 51255928 single base substitution C G intron_variant BRCA-EU 1 51256709 51256709 single base substitution C G intron_variant BRCA-EU 1 51256987 51256987 single base substitution T A intron_variant BRCA-EU 1 51257174 51257174 single base substitution T G intron_variant BRCA-EU 1 51258509 51258509 single base substitution G A intron_variant BRCA-EU 1 51258674 51258674 deletion of <=200bp T - intron_variant BRCA-EU 1 51259412 51259412 single base substitution C G intron_variant BRCA-EU 1 51260008 51260008 single base substitution A C intron_variant BRCA-EU 1 51261395 51261395 single base substitution G A intron_variant BRCA-EU 1 51261769 51261769 single base substitution G C intron_variant BRCA-EU 1 51261920 51261920 single base substitution G A intron_variant BRCA-EU 1 51262757 51262757 single base substitution G C intron_variant BRCA-EU 1 51263171 51263171 single base substitution A G intron_variant BRCA-EU 1 51265012 51265012 single base substitution G A intron_variant BRCA-EU 1 51267077 51267077 single base substitution C A intron_variant BRCA-EU 1 51267854 51267854 single base substitution C T intron_variant BRCA-EU 1 51269813 51269813 single base substitution A G intron_variant BRCA-EU 1 51270361 51270361 insertion of <=200bp - T intron_variant BRCA-EU 1 51272537 51272537 insertion of <=200bp - A intron_variant BRCA-EU 1 51273536 51273536 deletion of <=200bp C - intron_variant BRCA-EU 1 51276314 51276314 single base substitution C T intron_variant BRCA-EU 1 51280134 51280134 single base substitution G C intron_variant BRCA-EU 1 51280695 51280695 single base substitution T A intron_variant BRCA-EU 1 51280773 51280773 deletion of <=200bp T - intron_variant BRCA-EU 1 51281017 51281017 single base substitution G A intron_variant BRCA-EU 1 51281716 51281716 single base substitution T A intron_variant BRCA-EU 1 51281720 51281720 single base substitution A T intron_variant BRCA-EU 1 51283078 51283078 single base substitution A C intron_variant BRCA-EU 1 51283440 51283440 single base substitution T C intron_variant BRCA-EU 1 51284535 51284535 single base substitution G A intron_variant BRCA-EU 1 51284536 51284536 single base substitution G C intron_variant BRCA-EU 1 51284935 51284935 single base substitution G A intron_variant BRCA-EU 1 51285021 51285021 single base substitution G A intron_variant BRCA-EU 1 51285936 51285936 single base substitution C T intron_variant BRCA-EU 1 51288076 51288076 single base substitution G T intron_variant BRCA-EU 1 51288356 51288356 single base substitution A G intron_variant BRCA-EU 1 51290134 51290134 single base substitution C G intron_variant BRCA-EU 1 51290157 51290157 deletion of <=200bp A - intron_variant BRCA-EU 1 51290813 51290813 single base substitution G C intron_variant BRCA-EU 1 51291649 51291649 single base substitution G C intron_variant BRCA-EU 1 51291730 51291730 single base substitution A C intron_variant BRCA-EU 1 51291739 51291739 single base substitution G T intron_variant BRCA-EU 1 51294207 51294207 single base substitution C T intron_variant BRCA-EU 1 51294818 51294818 single base substitution G T intron_variant BRCA-EU 1 51295713 51295713 single base substitution G C intron_variant BRCA-EU 1 51296255 51296255 single base substitution G C intron_variant BRCA-EU 1 51296628 51296628 single base substitution G A intron_variant BRCA-EU 1 51297712 51297712 single base substitution A G intron_variant BRCA-EU 1 51298362 51298362 single base substitution C G intron_variant BRCA-EU 1 51298550 51298550 single base substitution T A intron_variant BRCA-EU 1 51299015 51299015 single base substitution A T intron_variant BRCA-EU 1 51299068 51299068 single base substitution G T intron_variant BRCA-EU 1 51299442 51299442 single base substitution G A intron_variant BRCA-EU 1 51300484 51300484 single base substitution C T intron_variant BRCA-EU 1 51301153 51301153 single base substitution G A intron_variant BRCA-EU 1 51302898 51302898 single base substitution G C intron_variant BRCA-EU 1 51303108 51303109 deletion of <=200bp GT - intron_variant BRCA-EU 1 51303503 51303503 single base substitution C A intron_variant BRCA-EU 1 51303504 51303504 single base substitution C T intron_variant BRCA-EU 1 51305470 51305470 single base substitution G C intron_variant BRCA-EU 1 51307250 51307250 deletion of <=200bp C - intron_variant BRCA-EU 1 51307561 51307561 single base substitution T A intron_variant BRCA-EU 1 51308776 51308776 single base substitution G A intron_variant BRCA-EU 1 51309402 51309402 single base substitution G A intron_variant BRCA-EU 1 51309541 51309541 single base substitution A T intron_variant BRCA-EU 1 51310825 51310825 single base substitution C G intron_variant BRCA-EU 1 51310930 51310930 single base substitution A G intron_variant BRCA-EU 1 51311092 51311092 single base substitution C T intron_variant BRCA-EU 1 51313078 51313078 single base substitution C T intron_variant BRCA-EU 1 51313907 51313907 single base substitution G A intron_variant BRCA-EU 1 51313999 51313999 single base substitution G A intron_variant BRCA-EU 1 51314922 51314922 single base substitution G C intron_variant BRCA-EU 1 51315407 51315407 insertion of <=200bp - A intron_variant BRCA-EU 1 51315800 51315800 single base substitution A G intron_variant BRCA-EU 1 51316799 51316799 single base substitution C A intron_variant BRCA-EU 1 51317581 51317581 single base substitution G C intron_variant BRCA-EU 1 51318806 51318806 single base substitution G A intron_variant BRCA-EU 1 51322787 51322787 single base substitution G C intron_variant BRCA-EU 1 51323377 51323377 single base substitution G A intron_variant BRCA-EU 1 51323521 51323521 single base substitution C A intron_variant BRCA-EU 1 51323900 51323900 single base substitution G T intron_variant BRCA-EU 1 51326326 51326326 single base substitution G C intron_variant BRCA-EU 1 51326417 51326417 deletion of <=200bp A - intron_variant BRCA-EU 1 51326426 51326426 single base substitution T A intron_variant BRCA-EU 1 51326472 51326472 single base substitution C A intron_variant BRCA-EU 1 51327855 51327855 single base substitution A C intron_variant BRCA-EU 1 51328742 51328742 single base substitution C G intron_variant BRCA-EU 1 51331476 51331476 single base substitution A G intron_variant BRCA-EU 1 51332421 51332421 single base substitution G C intron_variant BRCA-EU 1 51332445 51332445 single base substitution C G intron_variant BRCA-EU 1 51333002 51333002 single base substitution T C intron_variant BRCA-EU 1 51333158 51333158 insertion of <=200bp - A intron_variant BRCA-EU 1 51333994 51333994 single base substitution T C intron_variant BRCA-EU 1 51334449 51334449 single base substitution A G intron_variant BRCA-EU 1 51334928 51334928 single base substitution T C intron_variant BRCA-EU 1 51335131 51335131 single base substitution G A intron_variant BRCA-EU 1 51336030 51336030 single base substitution G A intron_variant BRCA-EU 1 51336120 51336120 single base substitution C T intron_variant BRCA-EU 1 51337154 51337154 single base substitution G A intron_variant BRCA-EU 1 51337287 51337287 single base substitution C G intron_variant BRCA-EU 1 51337514 51337514 single base substitution G A intron_variant BRCA-EU 1 51337681 51337681 single base substitution G A intron_variant BRCA-EU 1 51339343 51339343 single base substitution G A intron_variant BRCA-EU 1 51340637 51340637 single base substitution G A intron_variant BRCA-EU 1 51341549 51341549 single base substitution G A intron_variant BRCA-EU 1 51341626 51341626 single base substitution G A intron_variant BRCA-EU 1 51343143 51343143 single base substitution G C intron_variant BRCA-EU 1 51343152 51343152 single base substitution G A intron_variant BRCA-EU 1 51343469 51343469 single base substitution T C intron_variant BRCA-EU 1 51345424 51345424 single base substitution T G intron_variant BRCA-EU 1 51345824 51345824 single base substitution C G intron_variant BRCA-EU 1 51346428 51346428 single base substitution G C intron_variant BRCA-EU 1 51347793 51347793 single base substitution A G intron_variant BRCA-EU 1 51348128 51348128 single base substitution G T intron_variant BRCA-EU 1 51348330 51348330 single base substitution A G intron_variant BRCA-EU 1 51348643 51348643 single base substitution G A intron_variant BRCA-EU 1 51348956 51348956 single base substitution T C intron_variant BRCA-EU 1 51349410 51349410 single base substitution T A intron_variant BRCA-EU 1 51349458 51349458 single base substitution G C intron_variant BRCA-EU 1 51350071 51350071 single base substitution G A intron_variant BRCA-EU 1 51350571 51350571 single base substitution C T intron_variant BRCA-EU 1 51350998 51350998 single base substitution T A intron_variant BRCA-EU 1 51351015 51351015 single base substitution C G intron_variant BRCA-EU 1 51351991 51351991 single base substitution G C intron_variant BRCA-EU 1 51353045 51353045 single base substitution T A intron_variant BRCA-EU 1 51353227 51353227 single base substitution G T intron_variant BRCA-EU 1 51353951 51353951 single base substitution G C intron_variant BRCA-EU 1 51354552 51354552 single base substitution A C intron_variant BRCA-EU 1 51355565 51355565 single base substitution G C intron_variant BRCA-EU 1 51355766 51355766 single base substitution G C intron_variant BRCA-EU 1 51356994 51356994 single base substitution G C intron_variant BRCA-EU 1 51358140 51358140 single base substitution A G intron_variant BRCA-EU 1 51358925 51358925 single base substitution C T intron_variant BRCA-EU 1 51360097 51360097 single base substitution C T intron_variant BRCA-EU 1 51361221 51361221 single base substitution C A intron_variant BRCA-EU 1 51361528 51361528 deletion of <=200bp A - intron_variant BRCA-EU 1 51362201 51362201 single base substitution G C intron_variant BRCA-EU 1 51362634 51362634 deletion of <=200bp A - intron_variant BRCA-EU 1 51363600 51363600 single base substitution G A intron_variant BRCA-EU 1 51364414 51364414 single base substitution T G intron_variant BRCA-EU 1 51364832 51364832 single base substitution C A intron_variant BRCA-EU 1 51366040 51366040 single base substitution G T intron_variant BRCA-EU 1 51370034 51370034 single base substitution G C intron_variant BRCA-EU 1 51370710 51370710 insertion of <=200bp - C intron_variant BRCA-EU 1 51372237 51372237 single base substitution T C intron_variant BRCA-EU 1 51372341 51372341 single base substitution G A intron_variant BRCA-EU 1 51373794 51373794 single base substitution G A intron_variant BRCA-EU 1 51374416 51374416 single base substitution C G intron_variant BRCA-EU 1 51374796 51374796 single base substitution A T intron_variant BRCA-EU 1 51376260 51376260 single base substitution G A intron_variant BRCA-EU 1 51379201 51379201 single base substitution G C intron_variant BRCA-EU 1 51379574 51379574 single base substitution T C intron_variant BRCA-EU 1 51381204 51381204 single base substitution G A intron_variant BRCA-EU 1 51381585 51381585 deletion of <=200bp T - intron_variant BRCA-EU 1 51381595 51381595 single base substitution C T intron_variant BRCA-EU 1 51382461 51382461 single base substitution A G intron_variant BRCA-EU 1 51382472 51382472 single base substitution G A intron_variant BRCA-EU 1 51383057 51383057 single base substitution G C intron_variant BRCA-EU 1 51386159 51386159 single base substitution C G intron_variant BRCA-EU 1 51389252 51389252 single base substitution G A intron_variant BRCA-EU 1 51389820 51389820 single base substitution G A intron_variant BRCA-EU 1 51390353 51390353 single base substitution G C intron_variant BRCA-EU 1 51390426 51390426 single base substitution G T intron_variant BRCA-EU 1 51390597 51390597 single base substitution G T intron_variant BRCA-EU 1 51391117 51391117 single base substitution G A intron_variant BRCA-EU 1 51391570 51391570 single base substitution G C intron_variant BRCA-EU 1 51391843 51391843 single base substitution C G intron_variant BRCA-EU 1 51391975 51391975 single base substitution T C intron_variant BRCA-EU 1 51393317 51393317 single base substitution G C intron_variant BRCA-EU 1 51394673 51394673 single base substitution G T intron_variant BRCA-EU 1 51395684 51395684 single base substitution C T intron_variant BRCA-EU 1 51397052 51397052 single base substitution G C intron_variant BRCA-EU 1 51398465 51398465 deletion of <=200bp C - intron_variant BRCA-EU 1 51398721 51398721 single base substitution G A intron_variant BRCA-EU 1 51399736 51399736 deletion of <=200bp A - intron_variant BRCA-EU 1 51401098 51401098 single base substitution G A intron_variant BRCA-EU 1 51402204 51402204 single base substitution A G intron_variant BRCA-EU 1 51402773 51402773 single base substitution G T intron_variant BRCA-EU 1 51403748 51403748 deletion of <=200bp T - intron_variant BRCA-EU 1 51405634 51405634 single base substitution G C intron_variant BRCA-EU 1 51405774 51405774 single base substitution G C intron_variant BRCA-EU 1 51406615 51406615 single base substitution A G intron_variant BRCA-EU 1 51406992 51406992 single base substitution G A intron_variant BRCA-EU 1 51407024 51407024 single base substitution G C intron_variant BRCA-EU 1 51407592 51407592 deletion of <=200bp T - intron_variant BRCA-EU 1 51407751 51407751 single base substitution A G intron_variant BRCA-EU 1 51408654 51408654 single base substitution A G intron_variant BRCA-EU 1 51408687 51408687 single base substitution A C intron_variant BRCA-EU 1 51410187 51410187 single base substitution A C intron_variant BRCA-EU 1 51410816 51410816 single base substitution C T intron_variant BRCA-EU 1 51411114 51411114 single base substitution G A intron_variant BRCA-EU 1 51412630 51412630 deletion of <=200bp A - intron_variant BRCA-EU 1 51414675 51414675 single base substitution C T intron_variant BRCA-EU 1 51415684 51415684 single base substitution A T intron_variant BRCA-EU 1 51416738 51416738 single base substitution A G intron_variant BRCA-EU 1 51417346 51417346 single base substitution G A intron_variant BRCA-EU 1 51420166 51420166 single base substitution A T intron_variant BRCA-EU 1 51424964 51424964 single base substitution C G intron_variant BRCA-EU 1 51425294 51425295 deletion of <=200bp CA - intron_variant BRCA-EU 1 51426000 51426000 single base substitution C G upstream_gene_variant BRCA-EU 1 51427535 51427535 single base substitution A G upstream_gene_variant BRCA-EU 1 51427571 51427571 single base substitution C A upstream_gene_variant BRCA-EU 1 51428203 51428203 single base substitution G T upstream_gene_variant BRCA-EU 1 51428935 51428935 single base substitution G A upstream_gene_variant BRCA-EU 1 51429004 51429004 single base substitution A G upstream_gene_variant BRCA-EU 1 51429040 51429040 single base substitution G C upstream_gene_variant BRCA-EU 1 51429194 51429194 single base substitution A T upstream_gene_variant BRCA-EU 1 51429773 51429773 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 51429819 51429819 single base substitution C G upstream_gene_variant BRCA-EU 1 51429963 51429963 single base substitution G A upstream_gene_variant BRCA-EU 1 51430380 51430380 single base substitution C T upstream_gene_variant BRCA-EU 1 51430669 51430669 single base substitution G C upstream_gene_variant BRCA-FR 1 50900573 50900573 single base substitution C G downstream_gene_variant BRCA-FR 1 50901735 50901735 single base substitution T C downstream_gene_variant BRCA-FR 1 50904358 50904358 single base substitution C T downstream_gene_variant BRCA-FR 1 50911637 50911637 single base substitution C T intron_variant BRCA-FR 1 50921184 50921184 single base substitution T A intron_variant BRCA-FR 1 50948900 50948900 single base substitution C G intron_variant BRCA-FR 1 50948934 50948934 single base substitution C A intron_variant BRCA-FR 1 50957889 50957889 single base substitution C T intron_variant BRCA-FR 1 50958083 50958083 single base substitution T G intron_variant BRCA-FR 1 50959182 50959182 single base substitution C T intron_variant BRCA-FR 1 50964319 50964319 single base substitution C T intron_variant BRCA-FR 1 50983543 50983543 single base substitution C A intron_variant BRCA-FR 1 50986539 50986539 single base substitution C T intron_variant BRCA-FR 1 50990385 50990385 single base substitution C T intron_variant BRCA-FR 1 50990656 50990656 single base substitution C G intron_variant BRCA-FR 1 51011429 51011429 single base substitution A C intron_variant BRCA-FR 1 51022768 51022768 single base substitution G C intron_variant BRCA-FR 1 51035827 51035827 single base substitution G C intron_variant BRCA-FR 1 51043558 51043558 single base substitution C T intron_variant BRCA-FR 1 51045425 51045425 single base substitution C T intron_variant BRCA-FR 1 51062187 51062187 single base substitution C T intron_variant BRCA-FR 1 51075389 51075389 single base substitution G A intron_variant BRCA-FR 1 51075389 51075389 single base substitution G A upstream_gene_variant BRCA-FR 1 51079653 51079653 single base substitution C T intron_variant BRCA-FR 1 51079653 51079653 single base substitution C T upstream_gene_variant BRCA-FR 1 51082539 51082539 single base substitution G A intron_variant BRCA-FR 1 51082539 51082539 single base substitution G A upstream_gene_variant BRCA-FR 1 51089311 51089311 single base substitution C G intron_variant BRCA-FR 1 51107309 51107309 single base substitution G C intron_variant BRCA-FR 1 51112521 51112521 single base substitution C T intron_variant BRCA-FR 1 51117029 51117029 single base substitution T A intron_variant BRCA-FR 1 51122996 51122996 single base substitution C G intron_variant BRCA-FR 1 51138237 51138237 single base substitution G A intron_variant BRCA-FR 1 51153150 51153150 single base substitution G A intron_variant BRCA-FR 1 51161353 51161353 single base substitution C G intron_variant BRCA-FR 1 51173541 51173541 single base substitution C T intron_variant BRCA-FR 1 51173541 51173541 single base substitution C T upstream_gene_variant BRCA-FR 1 51178878 51178878 single base substitution C T intron_variant BRCA-FR 1 51189016 51189016 single base substitution G C intron_variant BRCA-FR 1 51203759 51203759 single base substitution G C intron_variant BRCA-FR 1 51206881 51206881 single base substitution G C intron_variant BRCA-FR 1 51222920 51222920 single base substitution G T intron_variant BRCA-FR 1 51234072 51234072 single base substitution A C intron_variant BRCA-FR 1 51261769 51261769 single base substitution G C intron_variant BRCA-FR 1 51262757 51262757 single base substitution G C intron_variant BRCA-FR 1 51265964 51265964 single base substitution G A intron_variant BRCA-FR 1 51267077 51267077 single base substitution C A intron_variant BRCA-FR 1 51267854 51267854 single base substitution C T intron_variant BRCA-FR 1 51284550 51284550 single base substitution G C intron_variant BRCA-FR 1 51298550 51298550 single base substitution T A intron_variant BRCA-FR 1 51314922 51314922 single base substitution G C intron_variant BRCA-FR 1 51329048 51329048 single base substitution G A intron_variant BRCA-FR 1 51332445 51332445 single base substitution C G intron_variant BRCA-FR 1 51335131 51335131 single base substitution G A intron_variant BRCA-FR 1 51342323 51342323 single base substitution T C intron_variant BRCA-FR 1 51343469 51343469 single base substitution T C intron_variant BRCA-FR 1 51344209 51344209 single base substitution G A intron_variant BRCA-FR 1 51346428 51346428 single base substitution G C intron_variant BRCA-FR 1 51349410 51349410 single base substitution T A intron_variant BRCA-FR 1 51353081 51353081 single base substitution G T intron_variant BRCA-FR 1 51382472 51382472 single base substitution G A intron_variant BRCA-FR 1 51400297 51400297 single base substitution G A intron_variant BRCA-FR 1 51406992 51406992 single base substitution G A intron_variant BRCA-FR 1 51417346 51417346 single base substitution G A intron_variant BRCA-FR 1 51419237 51419237 single base substitution C A intron_variant BRCA-FR 1 51426190 51426190 single base substitution T C upstream_gene_variant BRCA-FR 1 51427571 51427571 single base substitution C A upstream_gene_variant BRCA-KR 1 51049363 51049363 single base substitution C G exon_variant BRCA-KR 1 51049363 51049363 single base substitution C G missense_variant G331A 992G>C BRCA-KR 1 51049363 51049363 single base substitution C G missense_variant G89A 266G>C BRCA-UK 1 50902834 50902834 single base substitution A G downstream_gene_variant BRCA-UK 1 50921859 50921859 single base substitution G T intron_variant BRCA-UK 1 50975958 50975958 single base substitution C A intron_variant BRCA-UK 1 50976328 50976328 single base substitution C T intron_variant BRCA-UK 1 50977129 50977129 single base substitution C G intron_variant BRCA-UK 1 50978657 50978657 single base substitution G A intron_variant BRCA-UK 1 50996468 50996468 single base substitution C G intron_variant BRCA-UK 1 51030433 51030433 single base substitution G C intron_variant BRCA-UK 1 51038758 51038758 single base substitution G A intron_variant BRCA-UK 1 51060857 51060857 single base substitution G C intron_variant BRCA-UK 1 51088675 51088675 single base substitution T C intron_variant BRCA-UK 1 51095552 51095552 single base substitution G C intron_variant BRCA-UK 1 51159572 51159572 single base substitution G C intron_variant BRCA-UK 1 51161264 51161264 single base substitution G C intron_variant BRCA-UK 1 51186409 51186409 single base substitution G A intron_variant BRCA-UK 1 51187750 51187750 single base substitution C G intron_variant BRCA-UK 1 51192718 51192718 single base substitution C T intron_variant BRCA-UK 1 51194163 51194163 single base substitution T C intron_variant BRCA-UK 1 51225662 51225662 single base substitution G A intron_variant BRCA-UK 1 51227919 51227919 single base substitution G A intron_variant BRCA-UK 1 51233313 51233313 single base substitution G C intron_variant BRCA-UK 1 51235463 51235463 single base substitution C T intron_variant BRCA-UK 1 51253113 51253113 single base substitution G T intron_variant BRCA-UK 1 51259412 51259412 single base substitution C G intron_variant BRCA-UK 1 51260135 51260135 single base substitution G A intron_variant BRCA-UK 1 51263177 51263177 single base substitution C T intron_variant BRCA-UK 1 51276314 51276314 single base substitution C T intron_variant BRCA-UK 1 51288076 51288076 single base substitution G T intron_variant BRCA-UK 1 51310825 51310825 single base substitution C G intron_variant BRCA-UK 1 51348956 51348956 single base substitution T C intron_variant BRCA-UK 1 51353227 51353227 single base substitution G T intron_variant BRCA-UK 1 51389820 51389820 single base substitution G A intron_variant BRCA-UK 1 51422608 51422608 single base substitution G A intron_variant BRCA-UK 1 51429040 51429040 single base substitution G C upstream_gene_variant BRCA-US 1 50907117 50907117 single base substitution C G 3_prime_UTR_variant BRCA-US 1 50907117 50907117 single base substitution C G missense_variant E408Q 1222G>C BRCA-US 1 50907117 50907117 single base substitution C G missense_variant E650Q 1948G>C BRCA-US 1 50907189 50907189 single base substitution G A 3_prime_UTR_variant BRCA-US 1 50907189 50907189 single base substitution G A stop_gained Q384* 1150C>T BRCA-US 1 50907189 50907189 single base substitution G A stop_gained Q626* 1876C>T BRCA-US 1 50956274 50956274 single base substitution C G exon_variant BRCA-US 1 50956274 50956274 single base substitution C G missense_variant E305Q 913G>C BRCA-US 1 50956274 50956274 single base substitution C G missense_variant E547Q 1639G>C BRCA-US 1 51048354 51048354 single base substitution G T exon_variant BRCA-US 1 51048354 51048354 single base substitution G T missense_variant P108H 323C>A BRCA-US 1 51048354 51048354 single base substitution G T missense_variant P350H 1049C>A BRCA-US 1 51050413 51050413 single base substitution A C exon_variant BRCA-US 1 51050413 51050413 single base substitution A C missense_variant V304G 911T>G BRCA-US 1 51050413 51050413 single base substitution A C missense_variant V62G 185T>G BRCA-US 1 51253812 51253812 deletion of <=200bp G - exon_variant BRCA-US 1 51253812 51253812 deletion of <=200bp G - frameshift_variant P76 BRCA-US 1 51253875 51253875 single base substitution T G missense_variant E55A 164A>C BRCA-US 1 51253875 51253875 single base substitution T G splice_region_variant BTCA-JP 1 50957481 50957481 deletion of <=200bp A - splice_region_variant BTCA-JP 1 51050343 51050343 single base substitution C T intron_variant BTCA-JP 1 51050386 51050386 single base substitution G A exon_variant BTCA-JP 1 51050386 51050386 single base substitution G A missense_variant A313V 938C>T BTCA-JP 1 51050386 51050386 single base substitution G A missense_variant A71V 212C>T BTCA-JP 1 51180633 51180633 single base substitution C A intron_variant BTCA-JP 1 51180667 51180667 insertion of <=200bp - A intron_variant BTCA-JP 1 51210277 51210287 deletion of <=200bp TTAAAACCAAT - intron_variant BTCA-JP 1 51323696 51323696 single base substitution A G intron_variant BTCA-JP 1 51425451 51425451 single base substitution C T synonymous_variant L11L 33G>A BTCA-JP 1 51425451 51425451 single base substitution C T upstream_gene_variant CESC-US 1 50956315 50956315 insertion of <=200bp - TC exon_variant CESC-US 1 50956315 50956315 insertion of <=200bp - TC frameshift_variant M291M? CESC-US 1 50956315 50956315 insertion of <=200bp - TC frameshift_variant M533M? CESC-US 1 51032844 51032844 single base substitution G T exon_variant CESC-US 1 51032844 51032844 single base substitution G T stop_gained C149* 447C>A CESC-US 1 51032844 51032844 single base substitution G T stop_gained C391* 1173C>A CESC-US 1 51171511 51171511 single base substitution C T exon_variant CESC-US 1 51171511 51171511 single base substitution C T missense_variant E202K 604G>A CESC-US 1 51204625 51204625 single base substitution G T missense_variant T154K 461C>A CESC-US 1 51204625 51204625 single base substitution G T splice_region_variant CLLE-ES 1 50933247 50933247 single base substitution A T intron_variant CLLE-ES 1 50942139 50942139 single base substitution T A intron_variant CLLE-ES 1 50950076 50950076 single base substitution G A intron_variant CLLE-ES 1 50963472 50963472 single base substitution G A intron_variant CLLE-ES 1 51010665 51010665 single base substitution T G intron_variant CLLE-ES 1 51024910 51024910 single base substitution G C intron_variant CLLE-ES 1 51030731 51030731 single base substitution G A intron_variant CLLE-ES 1 51060681 51060681 single base substitution T C intron_variant CLLE-ES 1 51062279 51062279 single base substitution A G intron_variant CLLE-ES 1 51066416 51066416 single base substitution C A intron_variant CLLE-ES 1 51078145 51078145 single base substitution G T 5_prime_UTR_variant CLLE-ES 1 51078145 51078145 single base substitution G T intron_variant CLLE-ES 1 51083988 51083988 single base substitution T C intron_variant CLLE-ES 1 51093240 51093240 single base substitution G T intron_variant CLLE-ES 1 51110676 51110676 single base substitution A G intron_variant CLLE-ES 1 51111792 51111792 single base substitution G T intron_variant CLLE-ES 1 51118735 51118735 single base substitution T C intron_variant CLLE-ES 1 51131877 51131877 single base substitution C T intron_variant CLLE-ES 1 51164070 51164070 single base substitution T C intron_variant CLLE-ES 1 51178576 51178576 single base substitution G A intron_variant CLLE-ES 1 51202419 51202419 single base substitution G A intron_variant CLLE-ES 1 51212630 51212630 single base substitution C T intron_variant CLLE-ES 1 51244940 51244940 single base substitution A G intron_variant CLLE-ES 1 51264023 51264023 single base substitution A T intron_variant CLLE-ES 1 51294223 51294223 single base substitution G A intron_variant CLLE-ES 1 51303040 51303040 single base substitution C T intron_variant CLLE-ES 1 51311837 51311837 single base substitution T C intron_variant CLLE-ES 1 51320212 51320212 single base substitution T C intron_variant CLLE-ES 1 51328265 51328265 single base substitution T C intron_variant CLLE-ES 1 51342635 51342635 single base substitution T C intron_variant CLLE-ES 1 51352695 51352695 single base substitution A T intron_variant CLLE-ES 1 51356886 51356886 single base substitution G A intron_variant CLLE-ES 1 51358787 51358787 single base substitution C T intron_variant CLLE-ES 1 51360891 51360891 single base substitution A G intron_variant CLLE-ES 1 51381294 51381296 deletion of <=200bp AGG - intron_variant CLLE-ES 1 51397626 51397626 single base substitution T A intron_variant CLLE-ES 1 51414096 51414096 single base substitution G A intron_variant CLLE-ES 1 51414264 51414264 single base substitution A G intron_variant CLLE-ES 1 51416482 51416482 single base substitution G A intron_variant COAD-US 1 50941200 50941200 single base substitution A C exon_variant COAD-US 1 50941200 50941200 single base substitution A C missense_variant F360C 1079T>G COAD-US 1 50941200 50941200 single base substitution A C missense_variant F602C 1805T>G COAD-US 1 50956266 50956266 single base substitution T G exon_variant COAD-US 1 50956266 50956266 single base substitution T G missense_variant E307D 921A>C COAD-US 1 50956266 50956266 single base substitution T G missense_variant E549D 1647A>C COAD-US 1 51005335 51005335 single base substitution G A exon_variant COAD-US 1 51005335 51005335 single base substitution G A missense_variant T203M 608C>T COAD-US 1 51005335 51005335 single base substitution G A missense_variant T445M 1334C>T COAD-US 1 51061809 51061809 single base substitution C T exon_variant COAD-US 1 51061809 51061809 single base substitution C T missense_variant R275Q 824G>A COAD-US 1 51061809 51061809 single base substitution C T missense_variant R33Q 98G>A COAD-US 1 51171544 51171544 single base substitution T G 5_prime_UTR_variant COAD-US 1 51171544 51171544 single base substitution T G exon_variant COAD-US 1 51171544 51171544 single base substitution T G missense_variant N191H 571A>C COAD-US 1 51323641 51323641 single base substitution T C exon_variant COAD-US 1 51323641 51323641 single base substitution T C missense_variant E25G 74A>G COCA-CN 1 50956131 50956131 single base substitution G A intron_variant COCA-CN 1 50956165 50956165 single base substitution A G intron_variant COCA-CN 1 50956167 50956167 single base substitution G A intron_variant COCA-CN 1 50957446 50957446 single base substitution T C exon_variant COCA-CN 1 50957446 50957446 single base substitution T C missense_variant K266E 796A>G COCA-CN 1 50957446 50957446 single base substitution T C missense_variant K508E 1522A>G COCA-CN 1 50957492 50957492 single base substitution A C intron_variant COCA-CN 1 51050432 51050432 single base substitution C A exon_variant COCA-CN 1 51050432 51050432 single base substitution C A missense_variant D298Y 892G>T COCA-CN 1 51050432 51050432 single base substitution C A missense_variant D56Y 166G>T COCA-CN 1 51061728 51061728 single base substitution G A intron_variant COCA-CN 1 51063076 51063076 single base substitution G A intron_variant COCA-CN 1 51171557 51171557 single base substitution C T 5_prime_UTR_variant COCA-CN 1 51171557 51171557 single base substitution C T exon_variant COCA-CN 1 51171557 51171557 single base substitution C T synonymous_variant L186L 558G>A COCA-CN 1 51210439 51210439 single base substitution T G exon_variant COCA-CN 1 51210439 51210439 single base substitution T G missense_variant K126Q 376A>C COCA-CN 1 51246155 51246155 single base substitution C T intron_variant COCA-CN 1 51323598 51323598 single base substitution T A splice_region_variant COCA-CN 1 51323617 51323617 single base substitution T A exon_variant COCA-CN 1 51323617 51323617 single base substitution T A missense_variant N33I 98A>T EOPC-DE 1 50948776 50948776 single base substitution T C intron_variant EOPC-DE 1 51027811 51027811 single base substitution A G intron_variant EOPC-DE 1 51067278 51067278 single base substitution C T intron_variant EOPC-DE 1 51155106 51155106 single base substitution A T intron_variant EOPC-DE 1 51160248 51160248 single base substitution G T intron_variant EOPC-DE 1 51176275 51176275 single base substitution A C intron_variant EOPC-DE 1 51176275 51176275 single base substitution A C upstream_gene_variant EOPC-DE 1 51305842 51305842 single base substitution T A intron_variant EOPC-DE 1 51353107 51353107 single base substitution A T intron_variant EOPC-DE 1 51366084 51366084 single base substitution T C intron_variant ESAD-UK 1 50902568 50902568 single base substitution T C downstream_gene_variant ESAD-UK 1 50902959 50902959 single base substitution T A downstream_gene_variant ESAD-UK 1 50904471 50904471 single base substitution T A downstream_gene_variant ESAD-UK 1 50905972 50905972 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 50905972 50905972 single base substitution C G downstream_gene_variant ESAD-UK 1 50907715 50907715 deletion of <=200bp A - intron_variant ESAD-UK 1 50910315 50910315 single base substitution T G intron_variant ESAD-UK 1 50910737 50910737 single base substitution T C intron_variant ESAD-UK 1 50911850 50911850 single base substitution T C intron_variant ESAD-UK 1 50911875 50911875 single base substitution G A intron_variant ESAD-UK 1 50912425 50912425 single base substitution C G intron_variant ESAD-UK 1 50916739 50916739 single base substitution T C intron_variant ESAD-UK 1 50920894 50920894 single base substitution C T intron_variant ESAD-UK 1 50921487 50921487 insertion of <=200bp - T intron_variant ESAD-UK 1 50922761 50922761 single base substitution C T intron_variant ESAD-UK 1 50923612 50923612 single base substitution G A intron_variant ESAD-UK 1 50924167 50924167 single base substitution C A intron_variant ESAD-UK 1 50925776 50925776 single base substitution T C intron_variant ESAD-UK 1 50928738 50928738 single base substitution T G intron_variant ESAD-UK 1 50928803 50928803 single base substitution T A intron_variant ESAD-UK 1 50928975 50928975 single base substitution G A intron_variant ESAD-UK 1 50929833 50929833 deletion of <=200bp T - intron_variant ESAD-UK 1 50929933 50929933 single base substitution C G intron_variant ESAD-UK 1 50934276 50934276 single base substitution C T intron_variant ESAD-UK 1 50934286 50934286 single base substitution C T intron_variant ESAD-UK 1 50942531 50942531 deletion of <=200bp A - intron_variant ESAD-UK 1 50943410 50943410 single base substitution G A intron_variant ESAD-UK 1 50943637 50943637 single base substitution C G intron_variant ESAD-UK 1 50944849 50944849 single base substitution T A intron_variant ESAD-UK 1 50945217 50945217 single base substitution G A intron_variant ESAD-UK 1 50947116 50947116 single base substitution T C intron_variant ESAD-UK 1 50948355 50948355 single base substitution T C intron_variant ESAD-UK 1 50948879 50948879 deletion of <=200bp T - intron_variant ESAD-UK 1 50950473 50950473 single base substitution C T intron_variant ESAD-UK 1 50950522 50950522 single base substitution T C intron_variant ESAD-UK 1 50952270 50952270 single base substitution C T intron_variant ESAD-UK 1 50952918 50952918 single base substitution C T intron_variant ESAD-UK 1 50954924 50954924 single base substitution G C intron_variant ESAD-UK 1 50955727 50955727 single base substitution G A intron_variant ESAD-UK 1 50956484 50956484 single base substitution T A intron_variant ESAD-UK 1 50957302 50957302 single base substitution C T intron_variant ESAD-UK 1 50957369 50957369 single base substitution C T intron_variant ESAD-UK 1 50957521 50957521 insertion of <=200bp - A intron_variant ESAD-UK 1 50960323 50960323 single base substitution G A intron_variant ESAD-UK 1 50960897 50960897 single base substitution G T intron_variant ESAD-UK 1 50961612 50961612 single base substitution C A intron_variant ESAD-UK 1 50962731 50962731 single base substitution T G intron_variant ESAD-UK 1 50963898 50963898 single base substitution G T intron_variant ESAD-UK 1 50966992 50966992 single base substitution C T intron_variant ESAD-UK 1 50967200 50967200 single base substitution G A intron_variant ESAD-UK 1 50969694 50969694 single base substitution G A intron_variant ESAD-UK 1 50970205 50970205 single base substitution C T intron_variant ESAD-UK 1 50970313 50970313 single base substitution G C intron_variant ESAD-UK 1 50971018 50971018 single base substitution G C intron_variant ESAD-UK 1 50973768 50973768 single base substitution A G intron_variant ESAD-UK 1 50974541 50974541 single base substitution T C intron_variant ESAD-UK 1 50976404 50976404 single base substitution G C intron_variant ESAD-UK 1 50976893 50976893 single base substitution T A intron_variant ESAD-UK 1 50977765 50977765 single base substitution T G intron_variant ESAD-UK 1 50978523 50978523 single base substitution T A intron_variant ESAD-UK 1 50984664 50984664 single base substitution T A intron_variant ESAD-UK 1 50986861 50986861 deletion of <=200bp T - intron_variant ESAD-UK 1 50988819 50988819 deletion of <=200bp T - intron_variant ESAD-UK 1 50988826 50988826 single base substitution C A intron_variant ESAD-UK 1 50989605 50989605 single base substitution G A intron_variant ESAD-UK 1 50991769 50991769 single base substitution T C intron_variant ESAD-UK 1 50993132 50993132 single base substitution G C intron_variant ESAD-UK 1 51001406 51001406 single base substitution A C downstream_gene_variant ESAD-UK 1 51001406 51001406 single base substitution A C intron_variant ESAD-UK 1 51002028 51002028 single base substitution C T downstream_gene_variant ESAD-UK 1 51002028 51002028 single base substitution C T intron_variant ESAD-UK 1 51004672 51004672 single base substitution G A downstream_gene_variant ESAD-UK 1 51004672 51004672 single base substitution G A intron_variant ESAD-UK 1 51011396 51011396 single base substitution T A intron_variant ESAD-UK 1 51012216 51012216 single base substitution T G intron_variant ESAD-UK 1 51013917 51013917 single base substitution A G intron_variant ESAD-UK 1 51014798 51014798 single base substitution C A intron_variant ESAD-UK 1 51015752 51015752 single base substitution C T intron_variant ESAD-UK 1 51016809 51016809 single base substitution T C intron_variant ESAD-UK 1 51017435 51017435 single base substitution C A intron_variant ESAD-UK 1 51018917 51018917 single base substitution T A intron_variant ESAD-UK 1 51021072 51021072 single base substitution A C intron_variant ESAD-UK 1 51022095 51022095 single base substitution C T intron_variant ESAD-UK 1 51022578 51022578 single base substitution T C intron_variant ESAD-UK 1 51025160 51025160 single base substitution C T intron_variant ESAD-UK 1 51026749 51026749 single base substitution G A intron_variant ESAD-UK 1 51027575 51027575 single base substitution T C intron_variant ESAD-UK 1 51027790 51027790 single base substitution G A intron_variant ESAD-UK 1 51029078 51029078 single base substitution C G intron_variant ESAD-UK 1 51030447 51030447 deletion of <=200bp T - intron_variant ESAD-UK 1 51033905 51033905 single base substitution A C intron_variant ESAD-UK 1 51035420 51035420 single base substitution T C intron_variant ESAD-UK 1 51036150 51036150 single base substitution G A intron_variant ESAD-UK 1 51037131 51037131 single base substitution C G intron_variant ESAD-UK 1 51038543 51038543 single base substitution T A intron_variant ESAD-UK 1 51038635 51038635 single base substitution T C intron_variant ESAD-UK 1 51039496 51039496 single base substitution A C intron_variant ESAD-UK 1 51041126 51041126 insertion of <=200bp - T intron_variant ESAD-UK 1 51041795 51041795 single base substitution T C intron_variant ESAD-UK 1 51042967 51042967 single base substitution C T intron_variant ESAD-UK 1 51043837 51043837 single base substitution C A intron_variant ESAD-UK 1 51044931 51044931 single base substitution A T intron_variant ESAD-UK 1 51045527 51045527 deletion of <=200bp A - intron_variant ESAD-UK 1 51045779 51045790 deletion of <=200bp TGCAGTTTAAGT - intron_variant ESAD-UK 1 51048606 51048606 single base substitution A G intron_variant ESAD-UK 1 51050025 51050025 single base substitution T G intron_variant ESAD-UK 1 51053129 51053129 deletion of <=200bp T - intron_variant ESAD-UK 1 51053131 51053131 single base substitution T G intron_variant ESAD-UK 1 51053160 51053160 single base substitution A T intron_variant ESAD-UK 1 51053164 51053164 insertion of <=200bp - T intron_variant ESAD-UK 1 51054727 51054727 single base substitution A G intron_variant ESAD-UK 1 51055012 51055012 single base substitution C T intron_variant ESAD-UK 1 51057464 51057464 single base substitution T C intron_variant ESAD-UK 1 51060723 51060723 deletion of <=200bp T - intron_variant ESAD-UK 1 51061207 51061207 deletion of <=200bp A - intron_variant ESAD-UK 1 51066198 51066198 single base substitution C A intron_variant ESAD-UK 1 51066959 51066959 single base substitution G C intron_variant ESAD-UK 1 51070880 51070880 single base substitution G T intron_variant ESAD-UK 1 51071318 51071318 single base substitution T A intron_variant ESAD-UK 1 51072663 51072665 deletion of <=200bp AAC - intron_variant ESAD-UK 1 51072663 51072665 deletion of <=200bp AAC - upstream_gene_variant ESAD-UK 1 51074591 51074591 single base substitution G A intron_variant ESAD-UK 1 51074591 51074591 single base substitution G A upstream_gene_variant ESAD-UK 1 51078690 51078690 single base substitution T G intron_variant ESAD-UK 1 51078690 51078690 single base substitution T G upstream_gene_variant ESAD-UK 1 51080089 51080089 deletion of <=200bp A - intron_variant ESAD-UK 1 51080089 51080089 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 51080432 51080432 single base substitution A T intron_variant ESAD-UK 1 51080432 51080432 single base substitution A T upstream_gene_variant ESAD-UK 1 51080761 51080761 single base substitution C T intron_variant ESAD-UK 1 51080761 51080761 single base substitution C T upstream_gene_variant ESAD-UK 1 51081631 51081631 single base substitution G A intron_variant ESAD-UK 1 51081631 51081631 single base substitution G A upstream_gene_variant ESAD-UK 1 51081643 51081643 single base substitution G A intron_variant ESAD-UK 1 51081643 51081643 single base substitution G A upstream_gene_variant ESAD-UK 1 51081781 51081781 single base substitution G T intron_variant ESAD-UK 1 51081781 51081781 single base substitution G T upstream_gene_variant ESAD-UK 1 51082015 51082015 single base substitution T G intron_variant ESAD-UK 1 51082015 51082015 single base substitution T G upstream_gene_variant ESAD-UK 1 51083535 51083535 single base substitution A G intron_variant ESAD-UK 1 51084205 51084205 single base substitution T C intron_variant ESAD-UK 1 51085851 51085851 single base substitution T G intron_variant ESAD-UK 1 51086799 51086799 single base substitution G A intron_variant ESAD-UK 1 51087292 51087292 single base substitution G A intron_variant ESAD-UK 1 51088236 51088236 single base substitution G T intron_variant ESAD-UK 1 51089179 51089179 single base substitution C A intron_variant ESAD-UK 1 51091445 51091445 single base substitution G A intron_variant ESAD-UK 1 51091546 51091546 single base substitution C G intron_variant ESAD-UK 1 51092485 51092485 single base substitution A G intron_variant ESAD-UK 1 51093517 51093517 single base substitution T A intron_variant ESAD-UK 1 51094088 51094088 single base substitution G C intron_variant ESAD-UK 1 51094138 51094138 single base substitution T C intron_variant ESAD-UK 1 51098760 51098760 single base substitution C T intron_variant ESAD-UK 1 51099971 51099971 single base substitution C A intron_variant ESAD-UK 1 51101487 51101487 single base substitution A T intron_variant ESAD-UK 1 51101760 51101760 single base substitution G C intron_variant ESAD-UK 1 51103417 51103417 insertion of <=200bp - AT intron_variant ESAD-UK 1 51106132 51106132 deletion of <=200bp T - intron_variant ESAD-UK 1 51106886 51106886 single base substitution T G intron_variant ESAD-UK 1 51106971 51106971 single base substitution G A intron_variant ESAD-UK 1 51107600 51107600 single base substitution C T intron_variant ESAD-UK 1 51109013 51109013 single base substitution T G intron_variant ESAD-UK 1 51111522 51111522 insertion of <=200bp - A intron_variant ESAD-UK 1 51112319 51112319 single base substitution G A intron_variant ESAD-UK 1 51113072 51113072 deletion of <=200bp T - intron_variant ESAD-UK 1 51114958 51114958 single base substitution G T intron_variant ESAD-UK 1 51115550 51115550 single base substitution T C intron_variant ESAD-UK 1 51115755 51115755 single base substitution G A intron_variant ESAD-UK 1 51116782 51116782 single base substitution A C intron_variant ESAD-UK 1 51117975 51117975 single base substitution T C intron_variant ESAD-UK 1 51118299 51118299 single base substitution C T intron_variant ESAD-UK 1 51118677 51118677 single base substitution A T intron_variant ESAD-UK 1 51119774 51119774 single base substitution A C intron_variant ESAD-UK 1 51119907 51119907 single base substitution A C intron_variant ESAD-UK 1 51120518 51120518 single base substitution T G intron_variant ESAD-UK 1 51120861 51120861 deletion of <=200bp T - intron_variant ESAD-UK 1 51123445 51123445 single base substitution T C intron_variant ESAD-UK 1 51123793 51123793 single base substitution G A intron_variant ESAD-UK 1 51124847 51124847 single base substitution T G intron_variant ESAD-UK 1 51125159 51125159 single base substitution G A intron_variant ESAD-UK 1 51126176 51126176 single base substitution T C intron_variant ESAD-UK 1 51127367 51127367 single base substitution T G intron_variant ESAD-UK 1 51128594 51128594 single base substitution C T intron_variant ESAD-UK 1 51132503 51132503 single base substitution C T intron_variant ESAD-UK 1 51136718 51136718 deletion of <=200bp A - intron_variant ESAD-UK 1 51137857 51137857 single base substitution C G intron_variant ESAD-UK 1 51141400 51141400 single base substitution T C intron_variant ESAD-UK 1 51141402 51141402 single base substitution G A intron_variant ESAD-UK 1 51142990 51142990 deletion of <=200bp T - intron_variant ESAD-UK 1 51143684 51143684 single base substitution G T intron_variant ESAD-UK 1 51146697 51146699 deletion of <=200bp AAT - intron_variant ESAD-UK 1 51147507 51147507 single base substitution G T intron_variant ESAD-UK 1 51147681 51147681 deletion of <=200bp T - intron_variant ESAD-UK 1 51148399 51148399 single base substitution A C intron_variant ESAD-UK 1 51149142 51149142 single base substitution T G intron_variant ESAD-UK 1 51150945 51150945 single base substitution G C intron_variant ESAD-UK 1 51152511 51152511 single base substitution G T intron_variant ESAD-UK 1 51156204 51156204 single base substitution C T intron_variant ESAD-UK 1 51159057 51159057 single base substitution C A intron_variant ESAD-UK 1 51159315 51159315 insertion of <=200bp - A intron_variant ESAD-UK 1 51159702 51159702 single base substitution T C intron_variant ESAD-UK 1 51159758 51159758 deletion of <=200bp A - intron_variant ESAD-UK 1 51160204 51160204 single base substitution T C intron_variant ESAD-UK 1 51160603 51160603 single base substitution C G intron_variant ESAD-UK 1 51162219 51162219 single base substitution A G intron_variant ESAD-UK 1 51162872 51162872 single base substitution T C intron_variant ESAD-UK 1 51163527 51163527 single base substitution T A intron_variant ESAD-UK 1 51163818 51163818 insertion of <=200bp - TG intron_variant ESAD-UK 1 51165710 51165710 insertion of <=200bp - A intron_variant ESAD-UK 1 51166115 51166115 single base substitution T A intron_variant ESAD-UK 1 51167395 51167395 single base substitution T A downstream_gene_variant ESAD-UK 1 51167395 51167395 single base substitution T A intron_variant ESAD-UK 1 51168520 51168520 single base substitution C G downstream_gene_variant ESAD-UK 1 51168520 51168520 single base substitution C G intron_variant ESAD-UK 1 51168684 51168684 single base substitution A T downstream_gene_variant ESAD-UK 1 51168684 51168684 single base substitution A T intron_variant ESAD-UK 1 51172537 51172537 single base substitution C G intron_variant ESAD-UK 1 51172537 51172537 single base substitution C G upstream_gene_variant ESAD-UK 1 51173398 51173398 insertion of <=200bp - A intron_variant ESAD-UK 1 51173398 51173398 insertion of <=200bp - A upstream_gene_variant ESAD-UK 1 51175633 51175633 single base substitution C T intron_variant ESAD-UK 1 51175633 51175633 single base substitution C T upstream_gene_variant ESAD-UK 1 51176273 51176273 deletion of <=200bp A - intron_variant ESAD-UK 1 51176273 51176273 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 51176281 51176281 single base substitution T C intron_variant ESAD-UK 1 51176281 51176281 single base substitution T C upstream_gene_variant ESAD-UK 1 51179850 51179850 single base substitution T A intron_variant ESAD-UK 1 51180734 51180734 single base substitution G C intron_variant ESAD-UK 1 51182441 51182441 single base substitution C G intron_variant ESAD-UK 1 51184444 51184444 single base substitution C T intron_variant ESAD-UK 1 51185637 51185637 single base substitution T A intron_variant ESAD-UK 1 51185745 51185745 single base substitution C T intron_variant ESAD-UK 1 51186732 51186732 single base substitution C A intron_variant ESAD-UK 1 51186843 51186843 single base substitution T A intron_variant ESAD-UK 1 51187667 51187667 single base substitution C T intron_variant ESAD-UK 1 51189977 51189977 insertion of <=200bp - ACACACAT intron_variant ESAD-UK 1 51189981 51189981 insertion of <=200bp - ACAT intron_variant ESAD-UK 1 51190493 51190493 deletion of <=200bp T - intron_variant ESAD-UK 1 51190681 51190681 single base substitution G T intron_variant ESAD-UK 1 51192196 51192196 single base substitution G A intron_variant ESAD-UK 1 51192999 51192999 single base substitution C T intron_variant ESAD-UK 1 51194933 51194933 single base substitution A T intron_variant ESAD-UK 1 51195859 51195859 single base substitution T C intron_variant ESAD-UK 1 51196522 51196522 single base substitution A T intron_variant ESAD-UK 1 51197268 51197268 single base substitution C A intron_variant ESAD-UK 1 51200035 51200035 single base substitution A G intron_variant ESAD-UK 1 51202027 51202027 single base substitution G A intron_variant ESAD-UK 1 51202508 51202508 single base substitution A C intron_variant ESAD-UK 1 51204662 51204662 single base substitution G T intron_variant ESAD-UK 1 51205987 51205987 single base substitution T G intron_variant ESAD-UK 1 51207120 51207120 single base substitution A C intron_variant ESAD-UK 1 51210365 51210365 single base substitution C T exon_variant ESAD-UK 1 51210365 51210365 single base substitution C T synonymous_variant V150V 450G>A ESAD-UK 1 51210374 51210374 single base substitution C T exon_variant ESAD-UK 1 51210374 51210374 single base substitution C T synonymous_variant T147T 441G>A ESAD-UK 1 51211078 51211078 insertion of <=200bp - A intron_variant ESAD-UK 1 51214152 51214152 single base substitution A G intron_variant ESAD-UK 1 51214546 51214546 single base substitution T G intron_variant ESAD-UK 1 51218132 51218132 single base substitution T C intron_variant ESAD-UK 1 51218440 51218440 single base substitution C T intron_variant ESAD-UK 1 51219870 51219870 single base substitution G A intron_variant ESAD-UK 1 51224373 51224373 single base substitution C G intron_variant ESAD-UK 1 51231032 51231032 single base substitution C G intron_variant ESAD-UK 1 51234118 51234118 single base substitution T A intron_variant ESAD-UK 1 51234875 51234875 single base substitution G T intron_variant ESAD-UK 1 51236496 51236496 single base substitution G A intron_variant ESAD-UK 1 51236552 51236552 single base substitution C T intron_variant ESAD-UK 1 51237793 51237793 single base substitution A G intron_variant ESAD-UK 1 51240480 51240480 single base substitution C T intron_variant ESAD-UK 1 51241160 51241160 single base substitution A C intron_variant ESAD-UK 1 51243909 51243909 single base substitution A G intron_variant ESAD-UK 1 51247134 51247134 single base substitution A G intron_variant ESAD-UK 1 51248204 51248204 single base substitution T A intron_variant ESAD-UK 1 51253705 51253705 single base substitution C T exon_variant ESAD-UK 1 51253705 51253705 single base substitution C T missense_variant V112I 334G>A ESAD-UK 1 51254528 51254528 single base substitution G A intron_variant ESAD-UK 1 51257874 51257874 single base substitution T G intron_variant ESAD-UK 1 51261715 51261715 insertion of <=200bp - A intron_variant ESAD-UK 1 51261731 51261731 single base substitution C A intron_variant ESAD-UK 1 51263211 51263211 single base substitution G A intron_variant ESAD-UK 1 51263382 51263382 single base substitution A G intron_variant ESAD-UK 1 51264562 51264562 deletion of <=200bp T - intron_variant ESAD-UK 1 51267231 51267231 insertion of <=200bp - A intron_variant ESAD-UK 1 51267278 51267278 single base substitution A T intron_variant ESAD-UK 1 51268058 51268058 single base substitution G A intron_variant ESAD-UK 1 51268170 51268170 single base substitution T A intron_variant ESAD-UK 1 51268731 51268731 single base substitution C T intron_variant ESAD-UK 1 51268925 51268925 single base substitution G A intron_variant ESAD-UK 1 51270449 51270449 single base substitution G A intron_variant ESAD-UK 1 51275569 51275569 single base substitution A G intron_variant ESAD-UK 1 51275737 51275737 single base substitution G A intron_variant ESAD-UK 1 51277866 51277866 single base substitution A C intron_variant ESAD-UK 1 51278931 51278931 single base substitution T A intron_variant ESAD-UK 1 51281451 51281451 insertion of <=200bp - T intron_variant ESAD-UK 1 51281520 51281520 single base substitution A C intron_variant ESAD-UK 1 51281719 51281719 single base substitution T A intron_variant ESAD-UK 1 51282055 51282055 single base substitution T C intron_variant ESAD-UK 1 51282906 51282906 single base substitution A G intron_variant ESAD-UK 1 51285798 51285798 single base substitution T C intron_variant ESAD-UK 1 51290196 51290196 single base substitution A T intron_variant ESAD-UK 1 51290679 51290682 deletion of <=200bp AGAC - intron_variant ESAD-UK 1 51291283 51291283 single base substitution G C intron_variant ESAD-UK 1 51291334 51291334 insertion of <=200bp - A intron_variant ESAD-UK 1 51292191 51292191 single base substitution G C intron_variant ESAD-UK 1 51292387 51292387 single base substitution T C intron_variant ESAD-UK 1 51292539 51292539 single base substitution T A intron_variant ESAD-UK 1 51292587 51292587 single base substitution G A intron_variant ESAD-UK 1 51295029 51295029 single base substitution G C intron_variant ESAD-UK 1 51297124 51297124 single base substitution C T intron_variant ESAD-UK 1 51298550 51298550 single base substitution T A intron_variant ESAD-UK 1 51298561 51298561 single base substitution A C intron_variant ESAD-UK 1 51301062 51301062 single base substitution G A intron_variant ESAD-UK 1 51301377 51301377 single base substitution A C intron_variant ESAD-UK 1 51302905 51302905 single base substitution G C intron_variant ESAD-UK 1 51303069 51303069 single base substitution A T intron_variant ESAD-UK 1 51303541 51303541 single base substitution G A intron_variant ESAD-UK 1 51303976 51303976 single base substitution T C intron_variant ESAD-UK 1 51305210 51305210 single base substitution A T intron_variant ESAD-UK 1 51305855 51305855 single base substitution T G intron_variant ESAD-UK 1 51305966 51305966 single base substitution C A intron_variant ESAD-UK 1 51306810 51306810 single base substitution C T intron_variant ESAD-UK 1 51308763 51308763 single base substitution T C intron_variant ESAD-UK 1 51309282 51309282 single base substitution T G intron_variant ESAD-UK 1 51310507 51310507 single base substitution A C intron_variant ESAD-UK 1 51311442 51311442 single base substitution G T intron_variant ESAD-UK 1 51313633 51313633 deletion of <=200bp A - intron_variant ESAD-UK 1 51315348 51315348 single base substitution C T intron_variant ESAD-UK 1 51316741 51316741 single base substitution G T intron_variant ESAD-UK 1 51320047 51320047 single base substitution A C intron_variant ESAD-UK 1 51321846 51321846 single base substitution C G intron_variant ESAD-UK 1 51324762 51324762 single base substitution A C intron_variant ESAD-UK 1 51325221 51325221 single base substitution C A intron_variant ESAD-UK 1 51325898 51325898 deletion of <=200bp A - intron_variant ESAD-UK 1 51327344 51327344 single base substitution T C intron_variant ESAD-UK 1 51327786 51327786 single base substitution A C intron_variant ESAD-UK 1 51328767 51328767 single base substitution G C intron_variant ESAD-UK 1 51333598 51333598 single base substitution C T intron_variant ESAD-UK 1 51334002 51334002 single base substitution T G intron_variant ESAD-UK 1 51334007 51334007 single base substitution A C intron_variant ESAD-UK 1 51336604 51336604 deletion of <=200bp T - intron_variant ESAD-UK 1 51338415 51338415 deletion of <=200bp A - intron_variant ESAD-UK 1 51342703 51342703 single base substitution T G intron_variant ESAD-UK 1 51343745 51343745 single base substitution T G intron_variant ESAD-UK 1 51345888 51345888 single base substitution G C intron_variant ESAD-UK 1 51347853 51347853 single base substitution G A intron_variant ESAD-UK 1 51349848 51349848 single base substitution A C intron_variant ESAD-UK 1 51350985 51350985 insertion of <=200bp - CTCTCA intron_variant ESAD-UK 1 51350985 51350985 insertion of <=200bp - CTCTCTCA intron_variant ESAD-UK 1 51351621 51351621 insertion of <=200bp - A intron_variant ESAD-UK 1 51351630 51351630 single base substitution A C intron_variant ESAD-UK 1 51352253 51352253 single base substitution A T intron_variant ESAD-UK 1 51358026 51358026 single base substitution C T intron_variant ESAD-UK 1 51358229 51358229 single base substitution C T intron_variant ESAD-UK 1 51360848 51360848 deletion of <=200bp A - intron_variant ESAD-UK 1 51360875 51360875 single base substitution A T intron_variant ESAD-UK 1 51363651 51363651 single base substitution C T intron_variant ESAD-UK 1 51364725 51364725 single base substitution T C intron_variant ESAD-UK 1 51370576 51370576 single base substitution T C intron_variant ESAD-UK 1 51371697 51371697 single base substitution G A intron_variant ESAD-UK 1 51372526 51372526 single base substitution A C intron_variant ESAD-UK 1 51372604 51372604 single base substitution G C intron_variant ESAD-UK 1 51372771 51372771 single base substitution A G intron_variant ESAD-UK 1 51375190 51375190 single base substitution G T intron_variant ESAD-UK 1 51375610 51375610 single base substitution C T intron_variant ESAD-UK 1 51376213 51376213 single base substitution G C intron_variant ESAD-UK 1 51376897 51376897 single base substitution C T intron_variant ESAD-UK 1 51376971 51376971 single base substitution T C intron_variant ESAD-UK 1 51377370 51377370 insertion of <=200bp - A intron_variant ESAD-UK 1 51380973 51380973 single base substitution C A intron_variant ESAD-UK 1 51381676 51381676 single base substitution A G intron_variant ESAD-UK 1 51391068 51391068 single base substitution A G intron_variant ESAD-UK 1 51392336 51392336 single base substitution G A intron_variant ESAD-UK 1 51397735 51397735 single base substitution C T intron_variant ESAD-UK 1 51398172 51398172 single base substitution G A intron_variant ESAD-UK 1 51399771 51399771 single base substitution C A intron_variant ESAD-UK 1 51400041 51400041 single base substitution T C intron_variant ESAD-UK 1 51400739 51400739 single base substitution A G intron_variant ESAD-UK 1 51400847 51400847 single base substitution A G intron_variant ESAD-UK 1 51401963 51401963 single base substitution T G intron_variant ESAD-UK 1 51402136 51402136 single base substitution A G intron_variant ESAD-UK 1 51402696 51402696 single base substitution A G intron_variant ESAD-UK 1 51403626 51403626 single base substitution G T intron_variant ESAD-UK 1 51404251 51404251 single base substitution A T intron_variant ESAD-UK 1 51407708 51407716 deletion of <=200bp CCAATCCCA - intron_variant ESAD-UK 1 51409922 51409922 single base substitution A G intron_variant ESAD-UK 1 51410451 51410451 single base substitution G A intron_variant ESAD-UK 1 51410837 51410837 single base substitution G C intron_variant ESAD-UK 1 51412782 51412782 single base substitution A C intron_variant ESAD-UK 1 51414041 51414041 single base substitution C T intron_variant ESAD-UK 1 51414042 51414042 single base substitution G T intron_variant ESAD-UK 1 51414841 51414841 single base substitution C A intron_variant ESAD-UK 1 51415579 51415579 single base substitution G A intron_variant ESAD-UK 1 51418428 51418428 single base substitution C T intron_variant ESAD-UK 1 51423839 51423839 single base substitution A T intron_variant ESAD-UK 1 51425294 51425294 insertion of <=200bp - CA intron_variant ESAD-UK 1 51426509 51426509 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 51426861 51426861 single base substitution C A upstream_gene_variant ESAD-UK 1 51427119 51427119 single base substitution C A upstream_gene_variant ESAD-UK 1 51428766 51428766 single base substitution G A upstream_gene_variant ESCA-CN 1 50907049 50907049 single base substitution C T 3_prime_UTR_variant ESCA-CN 1 51253721 51253721 single base substitution T C exon_variant ESCA-CN 1 51253721 51253721 single base substitution T C synonymous_variant E106E 318A>G GBM-US 1 51001131 51001131 single base substitution T C downstream_gene_variant GBM-US 1 51001131 51001131 single base substitution T C splice_acceptor_variant KIRC-US 1 50941223 50941223 single base substitution G A exon_variant KIRC-US 1 50941223 50941223 single base substitution G A synonymous_variant N352N 1056C>T KIRC-US 1 50941223 50941223 single base substitution G A synonymous_variant N594N 1782C>T KIRC-US 1 50956260 50956260 single base substitution C T splice_region_variant LAML-KR 1 50923419 50923419 single base substitution T A intron_variant LAML-KR 1 51104135 51104135 single base substitution G T intron_variant LAML-KR 1 51115375 51115375 single base substitution C G intron_variant LAML-KR 1 51145035 51145035 single base substitution G A intron_variant LAML-KR 1 51149461 51149461 single base substitution G A intron_variant LAML-KR 1 51316773 51316773 single base substitution G T intron_variant LAML-KR 1 51383355 51383355 single base substitution G A intron_variant LAML-KR 1 51394476 51394476 single base substitution T A intron_variant LAML-KR 1 51401104 51401104 single base substitution C A intron_variant LGG-US 1 50907162 50907162 deletion of <=200bp C - 3_prime_UTR_variant LGG-US 1 50907162 50907162 deletion of <=200bp C - frameshift_variant E393 LGG-US 1 50907162 50907162 deletion of <=200bp C - frameshift_variant E635 LICA-FR 1 50901127 50901127 deletion of <=200bp T - downstream_gene_variant LICA-FR 1 50912371 50912371 single base substitution A T intron_variant LICA-FR 1 50915866 50915866 deletion of <=200bp A - intron_variant LICA-FR 1 50922824 50922824 insertion of <=200bp - AA intron_variant LICA-FR 1 50927565 50927565 single base substitution G A intron_variant LICA-FR 1 50953609 50953609 single base substitution G T intron_variant LICA-FR 1 50957260 50957260 single base substitution T C intron_variant LICA-FR 1 50959472 50959472 single base substitution G C intron_variant LICA-FR 1 50965036 50965036 deletion of <=200bp T - intron_variant LICA-FR 1 50983348 50983348 single base substitution T C intron_variant LICA-FR 1 51032888 51032888 single base substitution T C exon_variant LICA-FR 1 51032888 51032888 single base substitution T C missense_variant I135V 403A>G LICA-FR 1 51032888 51032888 single base substitution T C missense_variant I377V 1129A>G LICA-FR 1 51035586 51035586 single base substitution A G intron_variant LICA-FR 1 51040571 51040571 deletion of <=200bp T - intron_variant LICA-FR 1 51056629 51056629 single base substitution G A intron_variant LICA-FR 1 51084445 51084445 single base substitution G T intron_variant LICA-FR 1 51086973 51086973 single base substitution G C intron_variant LICA-FR 1 51087055 51087055 single base substitution C T intron_variant LICA-FR 1 51120270 51120270 single base substitution A G intron_variant LICA-FR 1 51126510 51126510 single base substitution A G intron_variant LICA-FR 1 51129234 51129234 single base substitution C A intron_variant LICA-FR 1 51130345 51130345 single base substitution A T intron_variant LICA-FR 1 51145730 51145730 single base substitution C T intron_variant LICA-FR 1 51147493 51147493 single base substitution T C intron_variant LICA-FR 1 51152344 51152344 single base substitution C T intron_variant LICA-FR 1 51153028 51153028 deletion of <=200bp A - intron_variant LICA-FR 1 51179446 51179446 deletion of <=200bp T - intron_variant LICA-FR 1 51191876 51191876 single base substitution C T intron_variant LICA-FR 1 51204975 51204975 single base substitution C A intron_variant LICA-FR 1 51205007 51205007 single base substitution C A intron_variant LICA-FR 1 51214184 51214184 single base substitution G A intron_variant LICA-FR 1 51217207 51217207 single base substitution G T intron_variant LICA-FR 1 51224981 51224981 single base substitution A C intron_variant LICA-FR 1 51229325 51229325 single base substitution T C intron_variant LICA-FR 1 51242929 51242929 deletion of <=200bp A - intron_variant LICA-FR 1 51250553 51250553 single base substitution T C intron_variant LICA-FR 1 51251048 51251048 single base substitution A G intron_variant LICA-FR 1 51263744 51263744 insertion of <=200bp - A intron_variant LICA-FR 1 51268762 51268762 single base substitution A C intron_variant LICA-FR 1 51325949 51325949 single base substitution C T intron_variant LICA-FR 1 51329821 51329821 single base substitution A T intron_variant LICA-FR 1 51341885 51341885 single base substitution T G intron_variant LICA-FR 1 51342066 51342066 single base substitution C A intron_variant LICA-FR 1 51355748 51355748 single base substitution T C intron_variant LICA-FR 1 51372369 51372369 single base substitution T C intron_variant LICA-FR 1 51372533 51372533 single base substitution T A intron_variant LICA-FR 1 51385974 51385974 deletion of <=200bp A - intron_variant LICA-FR 1 51397548 51397548 insertion of <=200bp - AAAT intron_variant LIHC-US 1 50941323 50941323 single base substitution A G exon_variant LIHC-US 1 50941323 50941323 single base substitution A G missense_variant L319P 956T>C LIHC-US 1 50941323 50941323 single base substitution A G missense_variant L561P 1682T>C LIHC-US 1 51323604 51323604 single base substitution T A exon_variant LIHC-US 1 51323604 51323604 single base substitution T A missense_variant L37F 111A>T LINC-JP 1 50901675 50901675 single base substitution G A downstream_gene_variant LINC-JP 1 50907087 50907087 single base substitution G A 3_prime_UTR_variant LINC-JP 1 50921684 50921684 single base substitution T C intron_variant LINC-JP 1 50927565 50927565 single base substitution G A intron_variant LINC-JP 1 50927566 50927566 single base substitution A G intron_variant LINC-JP 1 50933380 50933380 single base substitution C T intron_variant LINC-JP 1 50937128 50937128 single base substitution T G intron_variant LINC-JP 1 50943838 50943838 single base substitution C T intron_variant LINC-JP 1 50952350 50952350 single base substitution C A intron_variant LINC-JP 1 50956064 50956064 single base substitution G A intron_variant LINC-JP 1 50965555 50965555 single base substitution T C intron_variant LINC-JP 1 50978487 50978487 single base substitution T C intron_variant LINC-JP 1 50984578 50984578 single base substitution T A intron_variant LINC-JP 1 50986911 50986911 single base substitution T C intron_variant LINC-JP 1 50992443 50992443 single base substitution C T intron_variant LINC-JP 1 51001177 51001177 single base substitution A G downstream_gene_variant LINC-JP 1 51001177 51001177 single base substitution A G intron_variant LINC-JP 1 51003684 51003684 single base substitution T C downstream_gene_variant LINC-JP 1 51003684 51003684 single base substitution T C intron_variant LINC-JP 1 51004585 51004585 single base substitution T A downstream_gene_variant LINC-JP 1 51004585 51004585 single base substitution T A intron_variant LINC-JP 1 51005465 51005465 single base substitution A T intron_variant LINC-JP 1 51022969 51022969 single base substitution G C intron_variant LINC-JP 1 51049315 51049315 single base substitution T C intron_variant LINC-JP 1 51050429 51050429 single base substitution C T exon_variant LINC-JP 1 51050429 51050429 single base substitution C T missense_variant A299T 895G>A LINC-JP 1 51050429 51050429 single base substitution C T missense_variant A57T 169G>A LINC-JP 1 51058340 51058340 single base substitution C T intron_variant LINC-JP 1 51062073 51062073 single base substitution G C intron_variant LINC-JP 1 51103739 51103739 single base substitution T C intron_variant LINC-JP 1 51105209 51105209 single base substitution C T intron_variant LINC-JP 1 51112734 51112734 single base substitution T C intron_variant LINC-JP 1 51114026 51114026 single base substitution T C intron_variant LINC-JP 1 51119410 51119410 single base substitution C T intron_variant LINC-JP 1 51124535 51124535 single base substitution T C intron_variant LINC-JP 1 51127095 51127095 single base substitution T C intron_variant LINC-JP 1 51147816 51147816 single base substitution T C intron_variant LINC-JP 1 51159421 51159421 single base substitution C A intron_variant LINC-JP 1 51160826 51160826 single base substitution T C intron_variant LINC-JP 1 51168062 51168062 single base substitution C A downstream_gene_variant LINC-JP 1 51168062 51168062 single base substitution C A intron_variant LINC-JP 1 51171963 51171963 single base substitution G T intron_variant LINC-JP 1 51171963 51171963 single base substitution G T upstream_gene_variant LINC-JP 1 51175526 51175526 single base substitution G C intron_variant LINC-JP 1 51175526 51175526 single base substitution G C upstream_gene_variant LINC-JP 1 51177917 51177917 single base substitution C A intron_variant LINC-JP 1 51192384 51192384 single base substitution C A intron_variant LINC-JP 1 51200278 51200278 single base substitution C G intron_variant LINC-JP 1 51204108 51204108 single base substitution T C intron_variant LINC-JP 1 51209148 51209148 single base substitution T C intron_variant LINC-JP 1 51209716 51209716 single base substitution A T intron_variant LINC-JP 1 51213110 51213110 single base substitution G T intron_variant LINC-JP 1 51222936 51222936 single base substitution T C intron_variant LINC-JP 1 51232400 51232400 single base substitution T C intron_variant LINC-JP 1 51240916 51240916 single base substitution T C intron_variant LINC-JP 1 51241202 51241202 single base substitution C A intron_variant LINC-JP 1 51241264 51241264 single base substitution T C intron_variant LINC-JP 1 51246014 51246014 single base substitution A T intron_variant LINC-JP 1 51246093 51246093 single base substitution T C intron_variant LINC-JP 1 51252630 51252630 single base substitution G T intron_variant LINC-JP 1 51266683 51266683 single base substitution G T intron_variant LINC-JP 1 51267113 51267113 single base substitution T G intron_variant LINC-JP 1 51279530 51279530 single base substitution A C intron_variant LINC-JP 1 51285678 51285678 single base substitution C A intron_variant LINC-JP 1 51286076 51286076 single base substitution T C intron_variant LINC-JP 1 51290942 51290943 deletion of <=200bp AT - intron_variant LINC-JP 1 51290949 51290949 single base substitution T A intron_variant LINC-JP 1 51299407 51299407 single base substitution T C intron_variant LINC-JP 1 51312769 51312769 single base substitution A C intron_variant LINC-JP 1 51316361 51316361 single base substitution G A intron_variant LINC-JP 1 51323614 51323614 single base substitution T C exon_variant LINC-JP 1 51323614 51323614 single base substitution T C missense_variant N34S 101A>G LINC-JP 1 51325015 51325015 single base substitution T C intron_variant LINC-JP 1 51331778 51331778 single base substitution T C intron_variant LINC-JP 1 51346702 51346702 single base substitution T C intron_variant LINC-JP 1 51346713 51346713 single base substitution A G intron_variant LINC-JP 1 51347493 51347493 single base substitution T A intron_variant LINC-JP 1 51356332 51356332 single base substitution T C intron_variant LINC-JP 1 51361446 51361446 single base substitution G A intron_variant LINC-JP 1 51367231 51367231 deletion of <=200bp A - intron_variant LINC-JP 1 51372974 51372974 single base substitution C A intron_variant LINC-JP 1 51378824 51378824 single base substitution T C intron_variant LINC-JP 1 51392877 51392877 single base substitution T C intron_variant LINC-JP 1 51416288 51416288 single base substitution A C intron_variant LINC-JP 1 51418586 51418586 single base substitution A G intron_variant LINC-JP 1 51430264 51430264 single base substitution G A upstream_gene_variant LIRI-JP 1 50902452 50902452 single base substitution T C downstream_gene_variant LIRI-JP 1 50904062 50904062 single base substitution T C downstream_gene_variant LIRI-JP 1 50904267 50904267 single base substitution T C downstream_gene_variant LIRI-JP 1 50904292 50904292 single base substitution T A downstream_gene_variant LIRI-JP 1 50904607 50904607 single base substitution C T downstream_gene_variant LIRI-JP 1 50906217 50906217 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 50906217 50906217 single base substitution A C downstream_gene_variant LIRI-JP 1 50907362 50907362 single base substitution T C intron_variant LIRI-JP 1 50907938 50907938 single base substitution T C intron_variant LIRI-JP 1 50909577 50909577 single base substitution T C intron_variant LIRI-JP 1 50912993 50912993 single base substitution T A intron_variant LIRI-JP 1 50917218 50917218 single base substitution T A intron_variant LIRI-JP 1 50917355 50917355 single base substitution T C intron_variant LIRI-JP 1 50918410 50918410 single base substitution T C intron_variant LIRI-JP 1 50918551 50918551 single base substitution C T intron_variant LIRI-JP 1 50918700 50918700 single base substitution C T intron_variant LIRI-JP 1 50921830 50921830 single base substitution T C intron_variant LIRI-JP 1 50921983 50921983 single base substitution A G intron_variant LIRI-JP 1 50922585 50922585 single base substitution A T intron_variant LIRI-JP 1 50924374 50924374 single base substitution T C intron_variant LIRI-JP 1 50926788 50926788 single base substitution T C intron_variant LIRI-JP 1 50927019 50927019 single base substitution A C intron_variant LIRI-JP 1 50931261 50931261 single base substitution A G intron_variant LIRI-JP 1 50931446 50931446 single base substitution T C intron_variant LIRI-JP 1 50931953 50931953 single base substitution T C intron_variant LIRI-JP 1 50934837 50934837 single base substitution T C intron_variant LIRI-JP 1 50936710 50936710 single base substitution T G intron_variant LIRI-JP 1 50936883 50936883 single base substitution T G intron_variant LIRI-JP 1 50937504 50937504 single base substitution A G intron_variant LIRI-JP 1 50939558 50939558 single base substitution G A intron_variant LIRI-JP 1 50940515 50940515 single base substitution T A intron_variant LIRI-JP 1 50941424 50941424 deletion of <=200bp G - intron_variant LIRI-JP 1 50944018 50944018 single base substitution A G intron_variant LIRI-JP 1 50946192 50946192 single base substitution A T intron_variant LIRI-JP 1 50946224 50946224 single base substitution C T intron_variant LIRI-JP 1 50946322 50946322 single base substitution C G intron_variant LIRI-JP 1 50947116 50947116 single base substitution T C intron_variant LIRI-JP 1 50948394 50948394 single base substitution T C intron_variant LIRI-JP 1 50948544 50948544 single base substitution G C intron_variant LIRI-JP 1 50949610 50949610 single base substitution T C intron_variant LIRI-JP 1 50950181 50950181 single base substitution A C intron_variant LIRI-JP 1 50950421 50950421 single base substitution A C intron_variant LIRI-JP 1 50952064 50952064 single base substitution T A intron_variant LIRI-JP 1 50952491 50952491 single base substitution T C intron_variant LIRI-JP 1 50954820 50954820 single base substitution G A intron_variant LIRI-JP 1 50958193 50958193 single base substitution T A intron_variant LIRI-JP 1 50962025 50962025 single base substitution T C intron_variant LIRI-JP 1 50963411 50963411 single base substitution G A intron_variant LIRI-JP 1 50963527 50963527 single base substitution T C intron_variant LIRI-JP 1 50966512 50966512 single base substitution T C intron_variant LIRI-JP 1 50969821 50969821 single base substitution T C intron_variant LIRI-JP 1 50970017 50970017 single base substitution G C intron_variant LIRI-JP 1 50970911 50970911 single base substitution T A intron_variant LIRI-JP 1 50971222 50971222 single base substitution T C intron_variant LIRI-JP 1 50971334 50971334 single base substitution T A intron_variant LIRI-JP 1 50973284 50973284 single base substitution G T intron_variant LIRI-JP 1 50974532 50974532 single base substitution C A intron_variant LIRI-JP 1 50974721 50974721 single base substitution C G intron_variant LIRI-JP 1 50977554 50977554 single base substitution T C intron_variant LIRI-JP 1 50978469 50978469 single base substitution T C intron_variant LIRI-JP 1 50979293 50979293 single base substitution C T intron_variant LIRI-JP 1 50979756 50979756 single base substitution T C intron_variant LIRI-JP 1 50981037 50981037 single base substitution T C intron_variant LIRI-JP 1 50986485 50986485 single base substitution C A intron_variant LIRI-JP 1 50987607 50987607 single base substitution T C intron_variant LIRI-JP 1 50987658 50987658 single base substitution G A intron_variant LIRI-JP 1 50988976 50988976 single base substitution T C intron_variant LIRI-JP 1 50988987 50988987 single base substitution T C intron_variant LIRI-JP 1 50992823 50992823 single base substitution G A intron_variant LIRI-JP 1 50994063 50994063 single base substitution T C intron_variant LIRI-JP 1 50996202 50996202 single base substitution T C intron_variant LIRI-JP 1 50998357 50998357 single base substitution T C intron_variant LIRI-JP 1 50999070 50999070 deletion of <=200bp A - intron_variant LIRI-JP 1 51001594 51001594 single base substitution T C downstream_gene_variant LIRI-JP 1 51001594 51001594 single base substitution T C intron_variant LIRI-JP 1 51001844 51001844 single base substitution T A downstream_gene_variant LIRI-JP 1 51001844 51001844 single base substitution T A intron_variant LIRI-JP 1 51003255 51003255 single base substitution T C downstream_gene_variant LIRI-JP 1 51003255 51003255 single base substitution T C intron_variant LIRI-JP 1 51005096 51005096 single base substitution C T downstream_gene_variant LIRI-JP 1 51005096 51005096 single base substitution C T intron_variant LIRI-JP 1 51005195 51005195 single base substitution T A downstream_gene_variant LIRI-JP 1 51005195 51005195 single base substitution T A intron_variant LIRI-JP 1 51008708 51008708 single base substitution T C intron_variant LIRI-JP 1 51011156 51011156 single base substitution G A intron_variant LIRI-JP 1 51012166 51012166 single base substitution T C intron_variant LIRI-JP 1 51012695 51012695 single base substitution G A intron_variant LIRI-JP 1 51013410 51013410 single base substitution T C intron_variant LIRI-JP 1 51019562 51019562 single base substitution T C intron_variant LIRI-JP 1 51019668 51019668 single base substitution A C intron_variant LIRI-JP 1 51020123 51020123 single base substitution T A intron_variant LIRI-JP 1 51024465 51024465 single base substitution G A intron_variant LIRI-JP 1 51024839 51024839 single base substitution C A intron_variant LIRI-JP 1 51025959 51025959 single base substitution A T intron_variant LIRI-JP 1 51026212 51026212 single base substitution T C intron_variant LIRI-JP 1 51026528 51026528 single base substitution T C intron_variant LIRI-JP 1 51027188 51027188 single base substitution T C intron_variant LIRI-JP 1 51027516 51027516 single base substitution T A intron_variant LIRI-JP 1 51028922 51028922 single base substitution G C intron_variant LIRI-JP 1 51030268 51030268 single base substitution T C intron_variant LIRI-JP 1 51030562 51030562 single base substitution G A intron_variant LIRI-JP 1 51034400 51034400 single base substitution T C intron_variant LIRI-JP 1 51037206 51037206 single base substitution G T intron_variant LIRI-JP 1 51038952 51038952 single base substitution G C intron_variant LIRI-JP 1 51039235 51039235 single base substitution T C intron_variant LIRI-JP 1 51039975 51039975 single base substitution C T intron_variant LIRI-JP 1 51039978 51039978 single base substitution T C intron_variant LIRI-JP 1 51040373 51040373 single base substitution T C intron_variant LIRI-JP 1 51040524 51040524 single base substitution T C intron_variant LIRI-JP 1 51041279 51041279 single base substitution T C intron_variant LIRI-JP 1 51041999 51041999 single base substitution T C intron_variant LIRI-JP 1 51043399 51043399 single base substitution T C intron_variant LIRI-JP 1 51044239 51044239 single base substitution T A intron_variant LIRI-JP 1 51044310 51044310 single base substitution T A intron_variant LIRI-JP 1 51044311 51044311 single base substitution C A intron_variant LIRI-JP 1 51046374 51046374 single base substitution A C intron_variant LIRI-JP 1 51047508 51047508 single base substitution T C intron_variant LIRI-JP 1 51050473 51050473 single base substitution T G exon_variant LIRI-JP 1 51050473 51050473 single base substitution T G missense_variant D284A 851A>C LIRI-JP 1 51050473 51050473 single base substitution T G missense_variant D42A 125A>C LIRI-JP 1 51050697 51050697 single base substitution G A intron_variant LIRI-JP 1 51053376 51053376 single base substitution A C intron_variant LIRI-JP 1 51053644 51053644 single base substitution T A intron_variant LIRI-JP 1 51055781 51055781 single base substitution C A intron_variant LIRI-JP 1 51055782 51055782 single base substitution C A intron_variant LIRI-JP 1 51056491 51056491 single base substitution T C intron_variant LIRI-JP 1 51058722 51058722 single base substitution T C intron_variant LIRI-JP 1 51060137 51060137 single base substitution T C intron_variant LIRI-JP 1 51062258 51062258 single base substitution A G intron_variant LIRI-JP 1 51063766 51063766 single base substitution G T intron_variant LIRI-JP 1 51065985 51065985 single base substitution A G intron_variant LIRI-JP 1 51066641 51066641 single base substitution T C intron_variant LIRI-JP 1 51070601 51070601 single base substitution T C intron_variant LIRI-JP 1 51071716 51071716 single base substitution A C intron_variant LIRI-JP 1 51072661 51072661 single base substitution A C intron_variant LIRI-JP 1 51072661 51072661 single base substitution A C upstream_gene_variant LIRI-JP 1 51072867 51072867 insertion of <=200bp - T intron_variant LIRI-JP 1 51072867 51072867 insertion of <=200bp - T upstream_gene_variant LIRI-JP 1 51073314 51073314 single base substitution T C intron_variant LIRI-JP 1 51073314 51073314 single base substitution T C upstream_gene_variant LIRI-JP 1 51074377 51074377 single base substitution G T intron_variant LIRI-JP 1 51074377 51074377 single base substitution G T upstream_gene_variant LIRI-JP 1 51075799 51075799 single base substitution C T intron_variant LIRI-JP 1 51075799 51075799 single base substitution C T upstream_gene_variant LIRI-JP 1 51077375 51077375 single base substitution T C intron_variant LIRI-JP 1 51077375 51077375 single base substitution T C upstream_gene_variant LIRI-JP 1 51079962 51079962 single base substitution G T intron_variant LIRI-JP 1 51079962 51079962 single base substitution G T upstream_gene_variant LIRI-JP 1 51080926 51080926 single base substitution T C intron_variant LIRI-JP 1 51080926 51080926 single base substitution T C upstream_gene_variant LIRI-JP 1 51081737 51081737 single base substitution T C intron_variant LIRI-JP 1 51081737 51081737 single base substitution T C upstream_gene_variant LIRI-JP 1 51081771 51081771 single base substitution T C intron_variant LIRI-JP 1 51081771 51081771 single base substitution T C upstream_gene_variant LIRI-JP 1 51083030 51083030 single base substitution T C intron_variant LIRI-JP 1 51083030 51083030 single base substitution T C upstream_gene_variant LIRI-JP 1 51083750 51083750 single base substitution A G intron_variant LIRI-JP 1 51084370 51084370 single base substitution C A intron_variant LIRI-JP 1 51084673 51084673 single base substitution C T intron_variant LIRI-JP 1 51086183 51086183 single base substitution T C intron_variant LIRI-JP 1 51087417 51087417 single base substitution T A intron_variant LIRI-JP 1 51088327 51088327 single base substitution T A intron_variant LIRI-JP 1 51088462 51088462 single base substitution T C intron_variant LIRI-JP 1 51088710 51088710 single base substitution C A intron_variant LIRI-JP 1 51088711 51088711 single base substitution C A intron_variant LIRI-JP 1 51088907 51088907 single base substitution C G intron_variant LIRI-JP 1 51092406 51092406 single base substitution T C intron_variant LIRI-JP 1 51093334 51093334 single base substitution A C intron_variant LIRI-JP 1 51096659 51096659 single base substitution G T intron_variant LIRI-JP 1 51096916 51096916 single base substitution G T intron_variant LIRI-JP 1 51097126 51097126 single base substitution A C intron_variant LIRI-JP 1 51098531 51098531 single base substitution C A intron_variant LIRI-JP 1 51101918 51101918 single base substitution A G intron_variant LIRI-JP 1 51103069 51103069 single base substitution G A intron_variant LIRI-JP 1 51103086 51103086 single base substitution T C intron_variant LIRI-JP 1 51103477 51103477 single base substitution T A intron_variant LIRI-JP 1 51105598 51105598 single base substitution T A intron_variant LIRI-JP 1 51106468 51106468 single base substitution T C intron_variant LIRI-JP 1 51107132 51107132 single base substitution T C intron_variant LIRI-JP 1 51107675 51107675 single base substitution C A intron_variant LIRI-JP 1 51107987 51107987 single base substitution G A intron_variant LIRI-JP 1 51112591 51112591 single base substitution C A intron_variant LIRI-JP 1 51114588 51114588 single base substitution A C intron_variant LIRI-JP 1 51119657 51119657 single base substitution T C intron_variant LIRI-JP 1 51120046 51120046 single base substitution T C intron_variant LIRI-JP 1 51121120 51121120 single base substitution G A exon_variant LIRI-JP 1 51121120 51121120 single base substitution G A synonymous_variant D246D 738C>T LIRI-JP 1 51121143 51121143 single base substitution C A exon_variant LIRI-JP 1 51121143 51121143 single base substitution C A missense_variant G239C 715G>T LIRI-JP 1 51121144 51121144 single base substitution C A exon_variant LIRI-JP 1 51121144 51121144 single base substitution C A missense_variant E238D 714G>T LIRI-JP 1 51122410 51122410 single base substitution C A intron_variant LIRI-JP 1 51124161 51124161 single base substitution C G intron_variant LIRI-JP 1 51125215 51125215 single base substitution T A intron_variant LIRI-JP 1 51127233 51127233 single base substitution T A intron_variant LIRI-JP 1 51128632 51128632 single base substitution G A intron_variant LIRI-JP 1 51129820 51129820 single base substitution C T intron_variant LIRI-JP 1 51129956 51129956 single base substitution C T intron_variant LIRI-JP 1 51130606 51130606 single base substitution A T intron_variant LIRI-JP 1 51130616 51130616 single base substitution G A intron_variant LIRI-JP 1 51131779 51131779 single base substitution A T intron_variant LIRI-JP 1 51132925 51132925 deletion of <=200bp T - intron_variant LIRI-JP 1 51135165 51135165 single base substitution T C intron_variant LIRI-JP 1 51136531 51136531 single base substitution G T intron_variant LIRI-JP 1 51136592 51136592 single base substitution A T intron_variant LIRI-JP 1 51136620 51136620 single base substitution T C intron_variant LIRI-JP 1 51137021 51137021 single base substitution G A intron_variant LIRI-JP 1 51137992 51137992 single base substitution C T intron_variant LIRI-JP 1 51139279 51139279 single base substitution T C intron_variant LIRI-JP 1 51139757 51139757 single base substitution G C intron_variant LIRI-JP 1 51141532 51141532 single base substitution T C intron_variant LIRI-JP 1 51142346 51142346 single base substitution T A intron_variant LIRI-JP 1 51144033 51144033 insertion of <=200bp - G intron_variant LIRI-JP 1 51145008 51145008 single base substitution T C intron_variant LIRI-JP 1 51147693 51147693 single base substitution G C intron_variant LIRI-JP 1 51148978 51148978 single base substitution C A intron_variant LIRI-JP 1 51149236 51149236 single base substitution T C intron_variant LIRI-JP 1 51149668 51149668 single base substitution T C intron_variant LIRI-JP 1 51155055 51155055 single base substitution G C intron_variant LIRI-JP 1 51156587 51156587 single base substitution T C intron_variant LIRI-JP 1 51156590 51156590 single base substitution C G intron_variant LIRI-JP 1 51156845 51156845 single base substitution T G intron_variant LIRI-JP 1 51158804 51158804 single base substitution T C intron_variant LIRI-JP 1 51159101 51159101 single base substitution T C intron_variant LIRI-JP 1 51159276 51159276 single base substitution C T intron_variant LIRI-JP 1 51159944 51159944 single base substitution T C intron_variant LIRI-JP 1 51161399 51161399 single base substitution C A intron_variant LIRI-JP 1 51161453 51161453 single base substitution T A intron_variant LIRI-JP 1 51166210 51166210 single base substitution T C intron_variant LIRI-JP 1 51166479 51166479 single base substitution T C downstream_gene_variant LIRI-JP 1 51166479 51166479 single base substitution T C intron_variant LIRI-JP 1 51167822 51167822 single base substitution G C downstream_gene_variant LIRI-JP 1 51167822 51167822 single base substitution G C intron_variant LIRI-JP 1 51167865 51167865 single base substitution G T downstream_gene_variant LIRI-JP 1 51167865 51167865 single base substitution G T intron_variant LIRI-JP 1 51170734 51170734 single base substitution G T downstream_gene_variant LIRI-JP 1 51170734 51170734 single base substitution G T intron_variant LIRI-JP 1 51174625 51174625 single base substitution T A intron_variant LIRI-JP 1 51174625 51174625 single base substitution T A upstream_gene_variant LIRI-JP 1 51176142 51176142 single base substitution C A intron_variant LIRI-JP 1 51176142 51176142 single base substitution C A upstream_gene_variant LIRI-JP 1 51176194 51176194 single base substitution T C intron_variant LIRI-JP 1 51176194 51176194 single base substitution T C upstream_gene_variant LIRI-JP 1 51177432 51177432 single base substitution C A intron_variant LIRI-JP 1 51178027 51178027 single base substitution G A intron_variant LIRI-JP 1 51178158 51178158 single base substitution T C intron_variant LIRI-JP 1 51187018 51187018 single base substitution C A intron_variant LIRI-JP 1 51187568 51187568 single base substitution T C intron_variant LIRI-JP 1 51187877 51187877 single base substitution A G intron_variant LIRI-JP 1 51188811 51188811 single base substitution G A intron_variant LIRI-JP 1 51189162 51189162 single base substitution T C intron_variant LIRI-JP 1 51191635 51191635 single base substitution T C intron_variant LIRI-JP 1 51191925 51191925 single base substitution C T intron_variant LIRI-JP 1 51192955 51192955 single base substitution T A intron_variant LIRI-JP 1 51193626 51193626 single base substitution G A intron_variant LIRI-JP 1 51195050 51195050 single base substitution T C intron_variant LIRI-JP 1 51195761 51195761 single base substitution G A intron_variant LIRI-JP 1 51196663 51196663 single base substitution T C intron_variant LIRI-JP 1 51197668 51197668 single base substitution T C intron_variant LIRI-JP 1 51198832 51198832 single base substitution T C intron_variant LIRI-JP 1 51200129 51200129 single base substitution G A intron_variant LIRI-JP 1 51200997 51200997 single base substitution G A intron_variant LIRI-JP 1 51202086 51202086 single base substitution T A intron_variant LIRI-JP 1 51202805 51202805 single base substitution T C intron_variant LIRI-JP 1 51202968 51202968 single base substitution T A intron_variant LIRI-JP 1 51203684 51203684 single base substitution T C intron_variant LIRI-JP 1 51204350 51204350 single base substitution A G intron_variant LIRI-JP 1 51205169 51205169 insertion of <=200bp - A intron_variant LIRI-JP 1 51209354 51209354 single base substitution T A intron_variant LIRI-JP 1 51210856 51210856 single base substitution C T intron_variant LIRI-JP 1 51213550 51213550 single base substitution T C intron_variant LIRI-JP 1 51214549 51214549 single base substitution A C intron_variant LIRI-JP 1 51215287 51215287 single base substitution A G intron_variant LIRI-JP 1 51216212 51216212 single base substitution T C intron_variant LIRI-JP 1 51217319 51217319 single base substitution T C intron_variant LIRI-JP 1 51218002 51218002 single base substitution C A intron_variant LIRI-JP 1 51219523 51219523 single base substitution G A intron_variant LIRI-JP 1 51221240 51221240 single base substitution T G intron_variant LIRI-JP 1 51221357 51221357 single base substitution G A intron_variant LIRI-JP 1 51222643 51222643 single base substitution T C intron_variant LIRI-JP 1 51224125 51224125 single base substitution T C intron_variant LIRI-JP 1 51226215 51226215 single base substitution C T intron_variant LIRI-JP 1 51226953 51226953 single base substitution C A intron_variant LIRI-JP 1 51229030 51229030 single base substitution T C intron_variant LIRI-JP 1 51229196 51229196 single base substitution G A intron_variant LIRI-JP 1 51230809 51230809 single base substitution A C intron_variant LIRI-JP 1 51230933 51230933 single base substitution A G intron_variant LIRI-JP 1 51231458 51231458 single base substitution C T intron_variant LIRI-JP 1 51231868 51231868 single base substitution T C intron_variant LIRI-JP 1 51235591 51235591 single base substitution C G intron_variant LIRI-JP 1 51235820 51235820 single base substitution A C intron_variant LIRI-JP 1 51244824 51244824 single base substitution G A intron_variant LIRI-JP 1 51245382 51245382 single base substitution G T intron_variant LIRI-JP 1 51249783 51249783 single base substitution C G intron_variant LIRI-JP 1 51251202 51251202 single base substitution A G intron_variant LIRI-JP 1 51256407 51256407 single base substitution T G intron_variant LIRI-JP 1 51257290 51257290 single base substitution G A intron_variant LIRI-JP 1 51257488 51257488 single base substitution A T intron_variant LIRI-JP 1 51258929 51258929 single base substitution T C intron_variant LIRI-JP 1 51262896 51262896 single base substitution G A intron_variant LIRI-JP 1 51264712 51264712 single base substitution G A intron_variant LIRI-JP 1 51265140 51265140 single base substitution G T intron_variant LIRI-JP 1 51265826 51265826 single base substitution A C intron_variant LIRI-JP 1 51266474 51266474 single base substitution C T intron_variant LIRI-JP 1 51266741 51266741 single base substitution C T intron_variant LIRI-JP 1 51267190 51267190 single base substitution A G intron_variant LIRI-JP 1 51268760 51268760 single base substitution T C intron_variant LIRI-JP 1 51268804 51268804 single base substitution G A intron_variant LIRI-JP 1 51269162 51269162 single base substitution T C intron_variant LIRI-JP 1 51269757 51269757 single base substitution T C intron_variant LIRI-JP 1 51273245 51273245 single base substitution G A intron_variant LIRI-JP 1 51273881 51273881 single base substitution G A intron_variant LIRI-JP 1 51276681 51276681 single base substitution T C intron_variant LIRI-JP 1 51277850 51277850 single base substitution T A intron_variant LIRI-JP 1 51277904 51277904 single base substitution C T intron_variant LIRI-JP 1 51280081 51280081 single base substitution T A intron_variant LIRI-JP 1 51280798 51280798 single base substitution C T intron_variant LIRI-JP 1 51282747 51282747 single base substitution G A intron_variant LIRI-JP 1 51283629 51283629 single base substitution T C intron_variant LIRI-JP 1 51283928 51283928 single base substitution G T intron_variant LIRI-JP 1 51285638 51285638 single base substitution G A intron_variant LIRI-JP 1 51288194 51288194 single base substitution C T intron_variant LIRI-JP 1 51291981 51291981 single base substitution T C intron_variant LIRI-JP 1 51292159 51292159 single base substitution T C intron_variant LIRI-JP 1 51294085 51294085 single base substitution C T intron_variant LIRI-JP 1 51295668 51295668 single base substitution A T intron_variant LIRI-JP 1 51298043 51298043 single base substitution G A intron_variant LIRI-JP 1 51300686 51300686 single base substitution T C intron_variant LIRI-JP 1 51301080 51301080 single base substitution T C intron_variant LIRI-JP 1 51301828 51301828 single base substitution T C intron_variant LIRI-JP 1 51304750 51304750 single base substitution G A intron_variant LIRI-JP 1 51307084 51307084 single base substitution C G intron_variant LIRI-JP 1 51308710 51308710 single base substitution T A intron_variant LIRI-JP 1 51312385 51312385 single base substitution T C intron_variant LIRI-JP 1 51313456 51313456 single base substitution T C intron_variant LIRI-JP 1 51313701 51313701 single base substitution T A intron_variant LIRI-JP 1 51314172 51314172 single base substitution T C intron_variant LIRI-JP 1 51314691 51314691 single base substitution G A intron_variant LIRI-JP 1 51315700 51315700 single base substitution C T intron_variant LIRI-JP 1 51317807 51317807 single base substitution T C intron_variant LIRI-JP 1 51318057 51318057 single base substitution T C intron_variant LIRI-JP 1 51318170 51318170 single base substitution A C intron_variant LIRI-JP 1 51319831 51319831 single base substitution T C intron_variant LIRI-JP 1 51320406 51320406 single base substitution T G intron_variant LIRI-JP 1 51320426 51320426 single base substitution T G intron_variant LIRI-JP 1 51322133 51322133 single base substitution A C intron_variant LIRI-JP 1 51325590 51325590 single base substitution G A intron_variant LIRI-JP 1 51326045 51326045 single base substitution T C intron_variant LIRI-JP 1 51327398 51327398 single base substitution A T intron_variant LIRI-JP 1 51327674 51327674 single base substitution G A intron_variant LIRI-JP 1 51328569 51328569 single base substitution G T intron_variant LIRI-JP 1 51328731 51328731 single base substitution T C intron_variant LIRI-JP 1 51328920 51328920 single base substitution T C intron_variant LIRI-JP 1 51336473 51336473 single base substitution C T intron_variant LIRI-JP 1 51346187 51346187 single base substitution T A intron_variant LIRI-JP 1 51347391 51347391 single base substitution T G intron_variant LIRI-JP 1 51349476 51349476 single base substitution A C intron_variant LIRI-JP 1 51349737 51349737 single base substitution C T intron_variant LIRI-JP 1 51350450 51350450 single base substitution T A intron_variant LIRI-JP 1 51350469 51350469 single base substitution T A intron_variant LIRI-JP 1 51352134 51352134 single base substitution T C intron_variant LIRI-JP 1 51352609 51352609 single base substitution C A intron_variant LIRI-JP 1 51352610 51352610 single base substitution C A intron_variant LIRI-JP 1 51353014 51353014 single base substitution T C intron_variant LIRI-JP 1 51355589 51355589 single base substitution T C intron_variant LIRI-JP 1 51355748 51355748 single base substitution T A intron_variant LIRI-JP 1 51356867 51356867 single base substitution C T intron_variant LIRI-JP 1 51357642 51357642 single base substitution G T intron_variant LIRI-JP 1 51357796 51357796 single base substitution A T intron_variant LIRI-JP 1 51358480 51358480 single base substitution T C intron_variant LIRI-JP 1 51359797 51359797 single base substitution T C intron_variant LIRI-JP 1 51361615 51361615 single base substitution T C intron_variant LIRI-JP 1 51362011 51362011 single base substitution T C intron_variant LIRI-JP 1 51362545 51362545 single base substitution T C intron_variant LIRI-JP 1 51363363 51363363 single base substitution T C intron_variant LIRI-JP 1 51366475 51366475 single base substitution C T intron_variant LIRI-JP 1 51367096 51367096 single base substitution G A intron_variant LIRI-JP 1 51368539 51368539 single base substitution A C intron_variant LIRI-JP 1 51372066 51372066 single base substitution T C intron_variant LIRI-JP 1 51372985 51372985 single base substitution T C intron_variant LIRI-JP 1 51378199 51378199 single base substitution T A intron_variant LIRI-JP 1 51378355 51378355 single base substitution C T intron_variant LIRI-JP 1 51378523 51378523 single base substitution T C intron_variant LIRI-JP 1 51379040 51379040 single base substitution T C intron_variant LIRI-JP 1 51379813 51379813 single base substitution T C intron_variant LIRI-JP 1 51389814 51389814 single base substitution C T intron_variant LIRI-JP 1 51390698 51390698 single base substitution C A intron_variant LIRI-JP 1 51391469 51391469 single base substitution G C intron_variant LIRI-JP 1 51392259 51392259 single base substitution T A intron_variant LIRI-JP 1 51392581 51392581 single base substitution C T intron_variant LIRI-JP 1 51392986 51392986 single base substitution C T intron_variant LIRI-JP 1 51396380 51396380 single base substitution G A intron_variant LIRI-JP 1 51397331 51397331 single base substitution A G intron_variant LIRI-JP 1 51397501 51397501 single base substitution G A intron_variant LIRI-JP 1 51401053 51401053 single base substitution T C intron_variant LIRI-JP 1 51401248 51401248 single base substitution T G intron_variant LIRI-JP 1 51401822 51401822 single base substitution A C intron_variant LIRI-JP 1 51404646 51404646 single base substitution T C intron_variant LIRI-JP 1 51404716 51404716 single base substitution T C intron_variant LIRI-JP 1 51408952 51408952 single base substitution A G intron_variant LIRI-JP 1 51410379 51410379 single base substitution G T intron_variant LIRI-JP 1 51413677 51413677 single base substitution C T intron_variant LIRI-JP 1 51415998 51415998 single base substitution T C intron_variant LIRI-JP 1 51417993 51417993 single base substitution G C intron_variant LIRI-JP 1 51422147 51422147 single base substitution T C intron_variant LIRI-JP 1 51422936 51422936 single base substitution T A intron_variant LIRI-JP 1 51427530 51427542 deletion of <=200bp GGAATATATTCAT - upstream_gene_variant LUSC-KR 1 50904593 50904593 single base substitution G A downstream_gene_variant LUSC-KR 1 50906937 50906937 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 50906937 50906937 single base substitution T A downstream_gene_variant LUSC-KR 1 50906938 50906938 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 50906938 50906938 single base substitution G T downstream_gene_variant LUSC-KR 1 50912465 50912465 single base substitution T G intron_variant LUSC-KR 1 50914628 50914628 single base substitution C T intron_variant LUSC-KR 1 50928347 50928347 single base substitution C G intron_variant LUSC-KR 1 50928929 50928929 single base substitution C A intron_variant LUSC-KR 1 50934123 50934123 single base substitution C A intron_variant LUSC-KR 1 50936145 50936145 single base substitution A G intron_variant LUSC-KR 1 50941355 50941355 single base substitution G A splice_region_variant LUSC-KR 1 50951368 50951368 single base substitution A C intron_variant LUSC-KR 1 50954164 50954164 single base substitution G C intron_variant LUSC-KR 1 50956188 50956188 single base substitution A T intron_variant LUSC-KR 1 50956872 50956872 single base substitution T A intron_variant LUSC-KR 1 50965561 50965561 single base substitution G A intron_variant LUSC-KR 1 50969719 50969719 single base substitution A G intron_variant LUSC-KR 1 50970720 50970720 single base substitution T A intron_variant LUSC-KR 1 50971504 50971504 single base substitution A T intron_variant LUSC-KR 1 50973502 50973502 single base substitution C G intron_variant LUSC-KR 1 50984353 50984353 single base substitution C T intron_variant LUSC-KR 1 50988195 50988195 single base substitution C G intron_variant LUSC-KR 1 50991037 50991037 single base substitution C T intron_variant LUSC-KR 1 50993466 50993466 single base substitution C A intron_variant LUSC-KR 1 50993848 50993848 single base substitution C T intron_variant LUSC-KR 1 51010083 51010083 single base substitution T A intron_variant LUSC-KR 1 51018553 51018553 single base substitution T C intron_variant LUSC-KR 1 51021841 51021841 single base substitution C A intron_variant LUSC-KR 1 51026512 51026512 single base substitution T C intron_variant LUSC-KR 1 51027524 51027524 single base substitution A C intron_variant LUSC-KR 1 51035169 51035169 single base substitution C G intron_variant LUSC-KR 1 51035778 51035778 single base substitution G A intron_variant LUSC-KR 1 51043180 51043180 single base substitution G A intron_variant LUSC-KR 1 51049272 51049272 single base substitution C T intron_variant LUSC-KR 1 51065705 51065705 single base substitution C A intron_variant LUSC-KR 1 51066095 51066095 single base substitution G A intron_variant LUSC-KR 1 51073064 51073064 single base substitution G A intron_variant LUSC-KR 1 51073064 51073064 single base substitution G A upstream_gene_variant LUSC-KR 1 51078886 51078886 single base substitution G C intron_variant LUSC-KR 1 51078886 51078886 single base substitution G C upstream_gene_variant LUSC-KR 1 51089024 51089024 single base substitution G A intron_variant LUSC-KR 1 51089297 51089297 single base substitution T G intron_variant LUSC-KR 1 51090583 51090583 single base substitution T G intron_variant LUSC-KR 1 51096523 51096523 single base substitution G T intron_variant LUSC-KR 1 51098055 51098055 single base substitution T C intron_variant LUSC-KR 1 51103982 51103982 single base substitution C T intron_variant LUSC-KR 1 51110298 51110298 single base substitution G A intron_variant LUSC-KR 1 51111141 51111141 single base substitution C A intron_variant LUSC-KR 1 51113578 51113578 single base substitution A T intron_variant LUSC-KR 1 51123841 51123841 single base substitution C T intron_variant LUSC-KR 1 51126935 51126935 single base substitution C A intron_variant LUSC-KR 1 51135793 51135793 single base substitution C A intron_variant LUSC-KR 1 51141357 51141357 single base substitution T A intron_variant LUSC-KR 1 51144143 51144143 single base substitution C A intron_variant LUSC-KR 1 51154191 51154191 single base substitution T A intron_variant LUSC-KR 1 51155203 51155203 single base substitution C A intron_variant LUSC-KR 1 51159602 51159602 single base substitution T G intron_variant LUSC-KR 1 51161411 51161411 single base substitution C T intron_variant LUSC-KR 1 51167036 51167036 single base substitution C T downstream_gene_variant LUSC-KR 1 51167036 51167036 single base substitution C T intron_variant LUSC-KR 1 51180704 51180704 single base substitution C G intron_variant LUSC-KR 1 51180811 51180811 single base substitution C G intron_variant LUSC-KR 1 51181551 51181551 single base substitution T C intron_variant LUSC-KR 1 51183951 51183951 single base substitution C G intron_variant LUSC-KR 1 51187000 51187000 single base substitution C A intron_variant LUSC-KR 1 51187757 51187757 single base substitution G C intron_variant LUSC-KR 1 51189256 51189256 single base substitution T C intron_variant LUSC-KR 1 51190037 51190037 single base substitution G A intron_variant LUSC-KR 1 51192500 51192500 single base substitution C G intron_variant LUSC-KR 1 51192548 51192548 single base substitution G C intron_variant LUSC-KR 1 51194702 51194702 single base substitution C A intron_variant LUSC-KR 1 51200043 51200043 single base substitution G A intron_variant LUSC-KR 1 51205770 51205770 single base substitution C G intron_variant LUSC-KR 1 51207535 51207535 single base substitution G C intron_variant LUSC-KR 1 51212687 51212687 single base substitution C A intron_variant LUSC-KR 1 51219817 51219817 single base substitution T A intron_variant LUSC-KR 1 51222097 51222097 single base substitution C G intron_variant LUSC-KR 1 51222331 51222331 single base substitution A C intron_variant LUSC-KR 1 51227727 51227727 single base substitution A G intron_variant LUSC-KR 1 51229420 51229420 single base substitution T C intron_variant LUSC-KR 1 51229701 51229701 single base substitution G C intron_variant LUSC-KR 1 51237535 51237535 single base substitution T G intron_variant LUSC-KR 1 51242788 51242788 single base substitution A G intron_variant LUSC-KR 1 51245588 51245588 single base substitution C G intron_variant LUSC-KR 1 51250675 51250675 single base substitution C A intron_variant LUSC-KR 1 51253145 51253145 single base substitution C G intron_variant LUSC-KR 1 51253892 51253892 single base substitution T C intron_variant LUSC-KR 1 51254939 51254939 single base substitution A G intron_variant LUSC-KR 1 51257711 51257711 single base substitution C A intron_variant LUSC-KR 1 51257785 51257785 single base substitution G A intron_variant LUSC-KR 1 51272183 51272183 single base substitution C A intron_variant LUSC-KR 1 51279339 51279339 single base substitution T C intron_variant LUSC-KR 1 51279362 51279362 single base substitution T C intron_variant LUSC-KR 1 51281482 51281482 single base substitution G A intron_variant LUSC-KR 1 51282694 51282694 single base substitution C A intron_variant LUSC-KR 1 51291191 51291191 single base substitution G T intron_variant LUSC-KR 1 51292619 51292619 single base substitution G A intron_variant LUSC-KR 1 51292671 51292671 single base substitution T A intron_variant LUSC-KR 1 51293706 51293706 single base substitution C G intron_variant LUSC-KR 1 51296441 51296441 single base substitution G T intron_variant LUSC-KR 1 51299135 51299135 single base substitution C A intron_variant LUSC-KR 1 51303154 51303154 single base substitution C T intron_variant LUSC-KR 1 51306901 51306901 single base substitution C T intron_variant LUSC-KR 1 51307420 51307420 single base substitution T C intron_variant LUSC-KR 1 51323669 51323669 single base substitution C A missense_variant A16S 46G>T LUSC-KR 1 51323669 51323669 single base substitution C A splice_region_variant LUSC-KR 1 51323754 51323754 single base substitution T C intron_variant LUSC-KR 1 51329806 51329806 single base substitution T A intron_variant LUSC-KR 1 51331365 51331365 single base substitution T A intron_variant LUSC-KR 1 51333963 51333963 single base substitution T C intron_variant LUSC-KR 1 51334332 51334332 single base substitution C A intron_variant LUSC-KR 1 51335753 51335753 single base substitution A C intron_variant LUSC-KR 1 51345013 51345013 single base substitution T G intron_variant LUSC-KR 1 51345439 51345439 single base substitution A G intron_variant LUSC-KR 1 51346310 51346310 single base substitution G C intron_variant LUSC-KR 1 51362662 51362662 single base substitution C T intron_variant LUSC-KR 1 51365375 51365375 single base substitution G A intron_variant LUSC-KR 1 51366368 51366368 single base substitution C T intron_variant LUSC-KR 1 51366500 51366500 single base substitution T G intron_variant LUSC-KR 1 51367144 51367144 single base substitution G C intron_variant LUSC-KR 1 51369589 51369589 single base substitution A G intron_variant LUSC-KR 1 51376816 51376816 single base substitution C A intron_variant LUSC-KR 1 51378497 51378497 single base substitution T A intron_variant LUSC-KR 1 51379576 51379576 single base substitution C T intron_variant LUSC-KR 1 51381904 51381904 single base substitution T A intron_variant LUSC-KR 1 51383863 51383863 single base substitution A T intron_variant LUSC-KR 1 51384273 51384273 single base substitution A T intron_variant LUSC-KR 1 51388155 51388155 single base substitution G A intron_variant LUSC-KR 1 51390613 51390613 single base substitution C A intron_variant LUSC-KR 1 51394023 51394023 single base substitution G A intron_variant LUSC-KR 1 51394476 51394476 single base substitution T A intron_variant LUSC-KR 1 51397848 51397848 single base substitution C A intron_variant LUSC-KR 1 51398852 51398852 single base substitution G A intron_variant LUSC-KR 1 51400193 51400193 single base substitution G C intron_variant LUSC-KR 1 51402686 51402686 single base substitution T C intron_variant LUSC-KR 1 51410591 51410591 single base substitution C A intron_variant LUSC-KR 1 51414575 51414575 single base substitution C T intron_variant LUSC-KR 1 51415624 51415624 single base substitution G C intron_variant LUSC-KR 1 51418743 51418743 single base substitution G T intron_variant LUSC-KR 1 51424119 51424119 single base substitution G A intron_variant LUSC-KR 1 51429178 51429178 single base substitution G C upstream_gene_variant LUSC-US 1 50957443 50957443 single base substitution T C exon_variant LUSC-US 1 50957443 50957443 single base substitution T C missense_variant R267G 799A>G LUSC-US 1 50957443 50957443 single base substitution T C missense_variant R509G 1525A>G MALY-DE 1 50914394 50914394 single base substitution C A intron_variant MALY-DE 1 50916976 50916976 single base substitution A T intron_variant MALY-DE 1 50922561 50922561 single base substitution C T intron_variant MALY-DE 1 50926274 50926275 deletion of <=200bp TG - intron_variant MALY-DE 1 50926481 50926482 deletion of <=200bp TG - intron_variant MALY-DE 1 50931238 50931238 single base substitution T G intron_variant MALY-DE 1 50934581 50934581 single base substitution T A intron_variant MALY-DE 1 50938490 50938490 single base substitution C T intron_variant MALY-DE 1 50950147 50950147 single base substitution A G intron_variant MALY-DE 1 50951332 50951332 single base substitution A C intron_variant MALY-DE 1 50960652 50960652 single base substitution T A intron_variant MALY-DE 1 50965381 50965381 single base substitution G A intron_variant MALY-DE 1 50970188 50970188 single base substitution T C intron_variant MALY-DE 1 50974531 50974531 single base substitution C A intron_variant MALY-DE 1 50981170 50981170 single base substitution A G intron_variant MALY-DE 1 50986774 50986774 insertion of <=200bp - T intron_variant MALY-DE 1 50995911 50995912 deletion of <=200bp GT - intron_variant MALY-DE 1 50999072 50999072 single base substitution A T intron_variant MALY-DE 1 51001238 51001238 single base substitution T C downstream_gene_variant MALY-DE 1 51001238 51001238 single base substitution T C intron_variant MALY-DE 1 51001783 51001783 single base substitution A C downstream_gene_variant MALY-DE 1 51001783 51001783 single base substitution A C intron_variant MALY-DE 1 51006806 51006806 single base substitution T C intron_variant MALY-DE 1 51008454 51008454 single base substitution G A intron_variant MALY-DE 1 51036161 51036161 single base substitution C G intron_variant MALY-DE 1 51039534 51039534 single base substitution T G intron_variant MALY-DE 1 51040411 51040411 single base substitution C T intron_variant MALY-DE 1 51061384 51061384 single base substitution T C intron_variant MALY-DE 1 51061385 51061385 single base substitution T A intron_variant MALY-DE 1 51064865 51064865 single base substitution A C intron_variant MALY-DE 1 51075982 51075982 single base substitution A G intron_variant MALY-DE 1 51075982 51075982 single base substitution A G upstream_gene_variant MALY-DE 1 51083810 51083810 single base substitution T C intron_variant MALY-DE 1 51088505 51088505 single base substitution G T intron_variant MALY-DE 1 51098077 51098077 single base substitution C T intron_variant MALY-DE 1 51098983 51098983 single base substitution T C intron_variant MALY-DE 1 51103354 51103355 deletion of <=200bp TG - intron_variant MALY-DE 1 51108880 51108880 single base substitution T G intron_variant MALY-DE 1 51110672 51110672 single base substitution T C intron_variant MALY-DE 1 51116643 51116643 single base substitution T C intron_variant MALY-DE 1 51118858 51118858 single base substitution C A intron_variant MALY-DE 1 51127606 51127606 single base substitution A C intron_variant MALY-DE 1 51129610 51129610 single base substitution T A intron_variant MALY-DE 1 51133169 51133169 single base substitution T C intron_variant MALY-DE 1 51136970 51136970 single base substitution G A intron_variant MALY-DE 1 51143435 51143435 single base substitution C T intron_variant MALY-DE 1 51146697 51146699 deletion of <=200bp AAT - intron_variant MALY-DE 1 51149613 51149613 single base substitution A T intron_variant MALY-DE 1 51152606 51152606 single base substitution T A intron_variant MALY-DE 1 51152677 51152677 single base substitution T C intron_variant MALY-DE 1 51160454 51160454 single base substitution C T intron_variant MALY-DE 1 51167899 51167899 single base substitution T C downstream_gene_variant MALY-DE 1 51167899 51167899 single base substitution T C intron_variant MALY-DE 1 51168067 51168067 single base substitution T C downstream_gene_variant MALY-DE 1 51168067 51168067 single base substitution T C intron_variant MALY-DE 1 51180258 51180258 single base substitution G A intron_variant MALY-DE 1 51187101 51187101 single base substitution G A intron_variant MALY-DE 1 51197297 51197297 single base substitution C T intron_variant MALY-DE 1 51200665 51200665 single base substitution G A intron_variant MALY-DE 1 51201404 51201404 insertion of <=200bp - TA intron_variant MALY-DE 1 51201716 51201716 single base substitution T C intron_variant MALY-DE 1 51202007 51202007 single base substitution A G intron_variant MALY-DE 1 51205046 51205046 single base substitution A G intron_variant MALY-DE 1 51207513 51207513 single base substitution C T intron_variant MALY-DE 1 51230000 51230000 single base substitution G A intron_variant MALY-DE 1 51230025 51230025 single base substitution G A intron_variant MALY-DE 1 51230259 51230259 single base substitution C T intron_variant MALY-DE 1 51235548 51235548 deletion of <=200bp C - intron_variant MALY-DE 1 51238786 51238786 insertion of <=200bp - A intron_variant MALY-DE 1 51244511 51244512 deletion of <=200bp AC - intron_variant MALY-DE 1 51246615 51246615 single base substitution G C intron_variant MALY-DE 1 51252316 51252316 single base substitution G T intron_variant MALY-DE 1 51266406 51266406 single base substitution T G intron_variant MALY-DE 1 51266568 51266568 single base substitution A G intron_variant MALY-DE 1 51279548 51279548 single base substitution C T intron_variant MALY-DE 1 51280050 51280050 single base substitution A C intron_variant MALY-DE 1 51281199 51281199 single base substitution T G intron_variant MALY-DE 1 51284392 51284392 single base substitution C T intron_variant MALY-DE 1 51291546 51291546 single base substitution G T intron_variant MALY-DE 1 51294073 51294073 single base substitution T A intron_variant MALY-DE 1 51294280 51294280 single base substitution C G intron_variant MALY-DE 1 51301306 51301306 single base substitution A T intron_variant MALY-DE 1 51304752 51304752 single base substitution A C intron_variant MALY-DE 1 51310134 51310134 single base substitution G A intron_variant MALY-DE 1 51311740 51311740 single base substitution G A intron_variant MALY-DE 1 51317014 51317014 single base substitution G A intron_variant MALY-DE 1 51317826 51317826 single base substitution C A intron_variant MALY-DE 1 51326048 51326048 single base substitution A T intron_variant MALY-DE 1 51327823 51327823 single base substitution T A intron_variant MALY-DE 1 51327997 51327997 single base substitution T A intron_variant MALY-DE 1 51328911 51328911 single base substitution A G intron_variant MALY-DE 1 51338596 51338596 single base substitution A C intron_variant MALY-DE 1 51346285 51346285 single base substitution G A intron_variant MALY-DE 1 51350055 51350055 single base substitution C T intron_variant MALY-DE 1 51350968 51350969 deletion of <=200bp TC - intron_variant MALY-DE 1 51369036 51369036 single base substitution A G intron_variant MALY-DE 1 51379257 51379257 single base substitution G A intron_variant MALY-DE 1 51383360 51383360 single base substitution G A intron_variant MALY-DE 1 51383375 51383375 single base substitution A G intron_variant MALY-DE 1 51406060 51406060 single base substitution G A intron_variant MALY-DE 1 51421786 51421786 single base substitution G A intron_variant MALY-DE 1 51422959 51422959 single base substitution C A intron_variant MALY-DE 1 51429569 51429569 single base substitution C T upstream_gene_variant MELA-AU 1 50900514 50900514 single base substitution T C downstream_gene_variant MELA-AU 1 50901831 50901831 single base substitution G A downstream_gene_variant MELA-AU 1 50902417 50902417 single base substitution G A downstream_gene_variant MELA-AU 1 50902887 50902887 single base substitution G A downstream_gene_variant MELA-AU 1 50903220 50903220 single base substitution C T downstream_gene_variant MELA-AU 1 50903328 50903328 single base substitution G A downstream_gene_variant MELA-AU 1 50903418 50903418 single base substitution G A downstream_gene_variant MELA-AU 1 50903455 50903455 single base substitution G A downstream_gene_variant MELA-AU 1 50903622 50903622 single base substitution G A downstream_gene_variant MELA-AU 1 50903682 50903682 single base substitution G A downstream_gene_variant MELA-AU 1 50904284 50904284 single base substitution G A downstream_gene_variant MELA-AU 1 50904316 50904316 single base substitution G A downstream_gene_variant MELA-AU 1 50904443 50904443 single base substitution C T downstream_gene_variant MELA-AU 1 50904607 50904607 single base substitution C T downstream_gene_variant MELA-AU 1 50904649 50904649 single base substitution G C downstream_gene_variant MELA-AU 1 50905234 50905234 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50905234 50905234 single base substitution G A downstream_gene_variant MELA-AU 1 50905318 50905318 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50905318 50905318 single base substitution G A downstream_gene_variant MELA-AU 1 50905460 50905460 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50905460 50905460 single base substitution G A downstream_gene_variant MELA-AU 1 50905712 50905712 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50905712 50905712 single base substitution G A downstream_gene_variant MELA-AU 1 50905813 50905813 single base substitution A G 3_prime_UTR_variant MELA-AU 1 50905813 50905813 single base substitution A G downstream_gene_variant MELA-AU 1 50906054 50906054 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50906054 50906054 single base substitution G A downstream_gene_variant MELA-AU 1 50906086 50906086 single base substitution C T 3_prime_UTR_variant MELA-AU 1 50906086 50906086 single base substitution C T downstream_gene_variant MELA-AU 1 50906940 50906940 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50906940 50906940 single base substitution G A downstream_gene_variant MELA-AU 1 50907107 50907107 single base substitution C T 3_prime_UTR_variant MELA-AU 1 50907476 50907476 single base substitution T A intron_variant MELA-AU 1 50907608 50907608 single base substitution A G intron_variant MELA-AU 1 50907672 50907672 single base substitution G A intron_variant MELA-AU 1 50907887 50907887 single base substitution G A intron_variant MELA-AU 1 50908415 50908416 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 50908495 50908495 single base substitution G A intron_variant MELA-AU 1 50908607 50908607 single base substitution G A intron_variant MELA-AU 1 50908617 50908617 single base substitution G A intron_variant MELA-AU 1 50908691 50908692 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 50909355 50909355 single base substitution C T intron_variant MELA-AU 1 50909359 50909359 single base substitution C T intron_variant MELA-AU 1 50909573 50909573 single base substitution A G intron_variant MELA-AU 1 50909575 50909575 single base substitution A G intron_variant MELA-AU 1 50909716 50909716 single base substitution A G intron_variant MELA-AU 1 50909825 50909825 single base substitution G A intron_variant MELA-AU 1 50910151 50910151 single base substitution G A intron_variant MELA-AU 1 50911007 50911007 single base substitution G A intron_variant MELA-AU 1 50911102 50911103 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 50911721 50911721 single base substitution G A intron_variant MELA-AU 1 50912422 50912422 single base substitution G A intron_variant MELA-AU 1 50912591 50912591 single base substitution C T intron_variant MELA-AU 1 50912727 50912727 single base substitution C T intron_variant MELA-AU 1 50913329 50913329 single base substitution C T intron_variant MELA-AU 1 50913691 50913691 single base substitution G A intron_variant MELA-AU 1 50913953 50913953 single base substitution G A intron_variant MELA-AU 1 50915144 50915144 single base substitution G A intron_variant MELA-AU 1 50915515 50915515 single base substitution G A intron_variant MELA-AU 1 50915602 50915602 single base substitution C T intron_variant MELA-AU 1 50915665 50915665 single base substitution G A intron_variant MELA-AU 1 50915812 50915812 single base substitution A G intron_variant MELA-AU 1 50915841 50915841 single base substitution G A intron_variant MELA-AU 1 50915893 50915893 single base substitution A G intron_variant MELA-AU 1 50916399 50916399 single base substitution G A intron_variant MELA-AU 1 50916887 50916887 single base substitution G A intron_variant MELA-AU 1 50917019 50917019 single base substitution G A intron_variant MELA-AU 1 50917104 50917104 single base substitution G A intron_variant MELA-AU 1 50917396 50917396 single base substitution G A intron_variant MELA-AU 1 50917699 50917699 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50917699 50917699 single base substitution G A intron_variant MELA-AU 1 50917705 50917705 single base substitution G A 3_prime_UTR_variant MELA-AU 1 50917705 50917705 single base substitution G A intron_variant MELA-AU 1 50917708 50917708 single base substitution C T 3_prime_UTR_variant MELA-AU 1 50917708 50917708 single base substitution C T intron_variant MELA-AU 1 50918261 50918261 single base substitution A C intron_variant MELA-AU 1 50918528 50918528 single base substitution G A intron_variant MELA-AU 1 50918598 50918598 single base substitution G A intron_variant MELA-AU 1 50918953 50918953 single base substitution G A intron_variant MELA-AU 1 50919190 50919190 single base substitution C T intron_variant MELA-AU 1 50919326 50919326 single base substitution G A intron_variant MELA-AU 1 50919828 50919828 single base substitution G A intron_variant MELA-AU 1 50920118 50920118 single base substitution C T intron_variant MELA-AU 1 50920666 50920666 single base substitution C T intron_variant MELA-AU 1 50921212 50921212 single base substitution G A intron_variant MELA-AU 1 50921351 50921351 single base substitution G A intron_variant MELA-AU 1 50921754 50921754 single base substitution A T intron_variant MELA-AU 1 50922478 50922478 single base substitution G A intron_variant MELA-AU 1 50922572 50922572 single base substitution A G intron_variant MELA-AU 1 50922774 50922774 single base substitution G T intron_variant MELA-AU 1 50922947 50922947 single base substitution G A intron_variant MELA-AU 1 50923070 50923070 single base substitution G A intron_variant MELA-AU 1 50923306 50923306 single base substitution T A intron_variant MELA-AU 1 50924008 50924008 single base substitution G A intron_variant MELA-AU 1 50924694 50924694 single base substitution A T intron_variant MELA-AU 1 50925131 50925131 single base substitution G A intron_variant MELA-AU 1 50926257 50926257 single base substitution G C intron_variant MELA-AU 1 50926553 50926553 single base substitution G A intron_variant MELA-AU 1 50929233 50929233 single base substitution A G intron_variant MELA-AU 1 50929564 50929564 single base substitution G A intron_variant MELA-AU 1 50929581 50929581 single base substitution C T intron_variant MELA-AU 1 50929963 50929963 single base substitution G A intron_variant MELA-AU 1 50931066 50931066 single base substitution G A intron_variant MELA-AU 1 50931765 50931765 single base substitution G A intron_variant MELA-AU 1 50932814 50932814 single base substitution G A intron_variant MELA-AU 1 50932934 50932934 single base substitution C T intron_variant MELA-AU 1 50933646 50933646 single base substitution C T intron_variant MELA-AU 1 50934156 50934156 single base substitution G A intron_variant MELA-AU 1 50934684 50934684 single base substitution G A intron_variant MELA-AU 1 50935507 50935507 single base substitution C T intron_variant MELA-AU 1 50936467 50936467 single base substitution G A intron_variant MELA-AU 1 50936660 50936660 single base substitution G A intron_variant MELA-AU 1 50936933 50936933 single base substitution G A intron_variant MELA-AU 1 50937561 50937561 single base substitution G A intron_variant MELA-AU 1 50937569 50937569 single base substitution G A intron_variant MELA-AU 1 50937589 50937589 single base substitution A T intron_variant MELA-AU 1 50938102 50938102 single base substitution A T intron_variant MELA-AU 1 50939067 50939067 single base substitution G A intron_variant MELA-AU 1 50939752 50939752 deletion of <=200bp A - intron_variant MELA-AU 1 50940031 50940031 single base substitution G A intron_variant MELA-AU 1 50940166 50940166 single base substitution G A intron_variant MELA-AU 1 50940221 50940221 single base substitution G A intron_variant MELA-AU 1 50940247 50940247 single base substitution G A intron_variant MELA-AU 1 50940266 50940266 single base substitution G A intron_variant MELA-AU 1 50940659 50940659 single base substitution G A intron_variant MELA-AU 1 50941158 50941158 single base substitution A G exon_variant MELA-AU 1 50941158 50941158 single base substitution A G missense_variant L374P 1121T>C MELA-AU 1 50941158 50941158 single base substitution A G missense_variant L616P 1847T>C MELA-AU 1 50941597 50941597 single base substitution G A intron_variant MELA-AU 1 50941599 50941599 single base substitution A C intron_variant MELA-AU 1 50941746 50941746 single base substitution T C intron_variant MELA-AU 1 50942467 50942467 single base substitution G A intron_variant MELA-AU 1 50942504 50942504 single base substitution G A intron_variant MELA-AU 1 50943127 50943127 single base substitution G A intron_variant MELA-AU 1 50943403 50943403 single base substitution A G intron_variant MELA-AU 1 50943638 50943638 single base substitution T C intron_variant MELA-AU 1 50943881 50943881 single base substitution G A intron_variant MELA-AU 1 50944049 50944049 single base substitution G A intron_variant MELA-AU 1 50944090 50944090 single base substitution C T intron_variant MELA-AU 1 50945006 50945006 single base substitution G A intron_variant MELA-AU 1 50945532 50945532 single base substitution C T intron_variant MELA-AU 1 50946383 50946383 single base substitution C A intron_variant MELA-AU 1 50946491 50946491 single base substitution G A intron_variant MELA-AU 1 50946696 50946696 single base substitution G A intron_variant MELA-AU 1 50947204 50947204 single base substitution C T intron_variant MELA-AU 1 50947388 50947388 single base substitution G A intron_variant MELA-AU 1 50947434 50947434 single base substitution G A intron_variant MELA-AU 1 50947452 50947452 single base substitution G A intron_variant MELA-AU 1 50948242 50948242 single base substitution G A intron_variant MELA-AU 1 50949157 50949157 single base substitution G A intron_variant MELA-AU 1 50949281 50949281 single base substitution G A intron_variant MELA-AU 1 50949347 50949347 single base substitution G A intron_variant MELA-AU 1 50949466 50949466 single base substitution G A intron_variant MELA-AU 1 50949582 50949582 single base substitution G A intron_variant MELA-AU 1 50949694 50949694 single base substitution G A intron_variant MELA-AU 1 50950061 50950061 single base substitution G A intron_variant MELA-AU 1 50950364 50950364 single base substitution T A intron_variant MELA-AU 1 50951283 50951283 single base substitution G A intron_variant MELA-AU 1 50951399 50951399 single base substitution G A intron_variant MELA-AU 1 50951469 50951469 single base substitution G A intron_variant MELA-AU 1 50951540 50951540 single base substitution G A intron_variant MELA-AU 1 50951771 50951771 single base substitution G A intron_variant MELA-AU 1 50952101 50952101 single base substitution G A intron_variant MELA-AU 1 50952551 50952551 single base substitution G A intron_variant MELA-AU 1 50953161 50953161 single base substitution G A intron_variant MELA-AU 1 50953174 50953174 single base substitution G A intron_variant MELA-AU 1 50953589 50953589 single base substitution T G intron_variant MELA-AU 1 50953942 50953942 single base substitution G T intron_variant MELA-AU 1 50954622 50954622 single base substitution A G intron_variant MELA-AU 1 50954884 50954884 single base substitution G A intron_variant MELA-AU 1 50955490 50955490 single base substitution G T intron_variant MELA-AU 1 50955498 50955498 single base substitution G A intron_variant MELA-AU 1 50955697 50955697 single base substitution G A intron_variant MELA-AU 1 50956916 50956916 single base substitution G A intron_variant MELA-AU 1 50957520 50957520 single base substitution G A intron_variant MELA-AU 1 50957752 50957752 single base substitution G A intron_variant MELA-AU 1 50957869 50957869 single base substitution C T intron_variant MELA-AU 1 50958297 50958297 single base substitution A G intron_variant MELA-AU 1 50959350 50959351 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 1 50959366 50959366 single base substitution G T intron_variant MELA-AU 1 50960333 50960333 single base substitution A T intron_variant MELA-AU 1 50960688 50960688 single base substitution G A intron_variant MELA-AU 1 50961109 50961109 single base substitution G A intron_variant MELA-AU 1 50961461 50961461 single base substitution G A intron_variant MELA-AU 1 50962107 50962107 single base substitution G A intron_variant MELA-AU 1 50962135 50962135 single base substitution G A intron_variant MELA-AU 1 50962383 50962383 single base substitution G A intron_variant MELA-AU 1 50962561 50962561 single base substitution C A intron_variant MELA-AU 1 50963356 50963356 single base substitution G A intron_variant MELA-AU 1 50963769 50963770 multiple base substitution (>=2bp and <=200bp) AG TT intron_variant MELA-AU 1 50964060 50964060 single base substitution G A intron_variant MELA-AU 1 50964509 50964509 single base substitution G A intron_variant MELA-AU 1 50964756 50964756 single base substitution G A intron_variant MELA-AU 1 50964998 50964998 single base substitution T C intron_variant MELA-AU 1 50965035 50965035 single base substitution G A intron_variant MELA-AU 1 50965991 50965991 single base substitution A G intron_variant MELA-AU 1 50966087 50966087 single base substitution G A intron_variant MELA-AU 1 50966327 50966327 single base substitution G A intron_variant MELA-AU 1 50967105 50967105 single base substitution G A intron_variant MELA-AU 1 50967970 50967970 single base substitution G A intron_variant MELA-AU 1 50968183 50968183 single base substitution G A intron_variant MELA-AU 1 50969002 50969004 deletion of <=200bp TTG - intron_variant MELA-AU 1 50969639 50969639 single base substitution G A intron_variant MELA-AU 1 50969807 50969807 single base substitution G A intron_variant MELA-AU 1 50970451 50970451 single base substitution G A intron_variant MELA-AU 1 50970567 50970567 single base substitution G A intron_variant MELA-AU 1 50971083 50971083 single base substitution G A intron_variant MELA-AU 1 50971593 50971593 single base substitution C G intron_variant MELA-AU 1 50971669 50971669 single base substitution G A intron_variant MELA-AU 1 50972102 50972102 single base substitution G A intron_variant MELA-AU 1 50972600 50972600 single base substitution C A intron_variant MELA-AU 1 50972681 50972681 single base substitution G A intron_variant MELA-AU 1 50973192 50973192 single base substitution C T intron_variant MELA-AU 1 50973559 50973559 single base substitution C A intron_variant MELA-AU 1 50973684 50973684 single base substitution G C intron_variant MELA-AU 1 50974565 50974565 single base substitution G A intron_variant MELA-AU 1 50974715 50974715 single base substitution G A intron_variant MELA-AU 1 50974726 50974726 deletion of <=200bp A - intron_variant MELA-AU 1 50975008 50975008 single base substitution G A intron_variant MELA-AU 1 50976120 50976120 single base substitution G A intron_variant MELA-AU 1 50976307 50976307 single base substitution G A intron_variant MELA-AU 1 50977252 50977252 single base substitution T C intron_variant MELA-AU 1 50977254 50977254 single base substitution C T intron_variant MELA-AU 1 50977627 50977627 single base substitution T C intron_variant MELA-AU 1 50978397 50978397 single base substitution T C intron_variant MELA-AU 1 50978404 50978404 single base substitution C T intron_variant MELA-AU 1 50978671 50978671 single base substitution G A intron_variant MELA-AU 1 50979256 50979256 single base substitution C T intron_variant MELA-AU 1 50979447 50979447 single base substitution G A intron_variant MELA-AU 1 50979707 50979707 single base substitution G A intron_variant MELA-AU 1 50979730 50979730 single base substitution A C intron_variant MELA-AU 1 50980358 50980358 single base substitution G A intron_variant MELA-AU 1 50980526 50980526 single base substitution G A intron_variant MELA-AU 1 50980934 50980934 single base substitution G A intron_variant MELA-AU 1 50981591 50981591 single base substitution T G intron_variant MELA-AU 1 50981772 50981772 single base substitution G A intron_variant MELA-AU 1 50981780 50981780 single base substitution G A intron_variant MELA-AU 1 50982091 50982091 single base substitution A G intron_variant MELA-AU 1 50982620 50982620 single base substitution G A intron_variant MELA-AU 1 50982965 50982965 single base substitution G A intron_variant MELA-AU 1 50983057 50983057 single base substitution G A intron_variant MELA-AU 1 50983276 50983276 single base substitution C T intron_variant MELA-AU 1 50984026 50984026 single base substitution G A intron_variant MELA-AU 1 50984282 50984282 single base substitution T A intron_variant MELA-AU 1 50984861 50984861 single base substitution G A intron_variant MELA-AU 1 50985055 50985055 single base substitution G A intron_variant MELA-AU 1 50985547 50985547 single base substitution A G intron_variant MELA-AU 1 50985591 50985591 single base substitution G A intron_variant MELA-AU 1 50985728 50985728 single base substitution G A intron_variant MELA-AU 1 50986424 50986425 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 50987348 50987349 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 1 50987537 50987537 single base substitution G A intron_variant MELA-AU 1 50987538 50987538 single base substitution G A intron_variant MELA-AU 1 50987947 50987947 single base substitution G A intron_variant MELA-AU 1 50987963 50987963 single base substitution A G intron_variant MELA-AU 1 50988547 50988547 single base substitution T G intron_variant MELA-AU 1 50988850 50988850 single base substitution G A intron_variant MELA-AU 1 50989022 50989022 single base substitution C T intron_variant MELA-AU 1 50989139 50989139 single base substitution G A intron_variant MELA-AU 1 50989264 50989264 single base substitution G A intron_variant MELA-AU 1 50989298 50989298 single base substitution C T intron_variant MELA-AU 1 50990295 50990295 single base substitution A C intron_variant MELA-AU 1 50990562 50990562 single base substitution G A intron_variant MELA-AU 1 50991342 50991342 single base substitution G A intron_variant MELA-AU 1 50991767 50991767 single base substitution G A intron_variant MELA-AU 1 50991886 50991886 single base substitution G A intron_variant MELA-AU 1 50992834 50992834 single base substitution G A intron_variant MELA-AU 1 50993463 50993463 single base substitution A C intron_variant MELA-AU 1 50993963 50993963 single base substitution G A intron_variant MELA-AU 1 50994612 50994612 single base substitution T G intron_variant MELA-AU 1 50995456 50995456 single base substitution G C intron_variant MELA-AU 1 50995460 50995460 single base substitution T C intron_variant MELA-AU 1 50995773 50995773 single base substitution C T intron_variant MELA-AU 1 50996336 50996343 deletion of <=200bp TAAATGCT - intron_variant MELA-AU 1 50997079 50997079 single base substitution G T intron_variant MELA-AU 1 50997499 50997499 single base substitution G A intron_variant MELA-AU 1 50997996 50997996 single base substitution G A intron_variant MELA-AU 1 50998593 50998594 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 50998825 50998825 single base substitution G A intron_variant MELA-AU 1 50999389 50999389 single base substitution G A intron_variant MELA-AU 1 50999797 50999797 single base substitution G A intron_variant MELA-AU 1 51000226 51000244 deletion of <=200bp GTGAGCCCCTGTGCCCAGC - intron_variant MELA-AU 1 51000385 51000386 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 51000385 51000386 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51000686 51000686 single base substitution A G downstream_gene_variant MELA-AU 1 51000686 51000686 single base substitution A G intron_variant MELA-AU 1 51000877 51000877 single base substitution G A downstream_gene_variant MELA-AU 1 51000877 51000877 single base substitution G A intron_variant MELA-AU 1 51000885 51000885 single base substitution G A downstream_gene_variant MELA-AU 1 51000885 51000885 single base substitution G A intron_variant MELA-AU 1 51000966 51000966 single base substitution A C downstream_gene_variant MELA-AU 1 51000966 51000966 single base substitution A C intron_variant MELA-AU 1 51001157 51001157 single base substitution T A downstream_gene_variant MELA-AU 1 51001157 51001157 single base substitution T A intron_variant MELA-AU 1 51001376 51001376 single base substitution G A downstream_gene_variant MELA-AU 1 51001376 51001376 single base substitution G A intron_variant MELA-AU 1 51002083 51002083 single base substitution G A downstream_gene_variant MELA-AU 1 51002083 51002083 single base substitution G A intron_variant MELA-AU 1 51003319 51003337 deletion of <=200bp ACTATTTTCCAAAAGAAAA - downstream_gene_variant MELA-AU 1 51003319 51003337 deletion of <=200bp ACTATTTTCCAAAAGAAAA - intron_variant MELA-AU 1 51003899 51003899 single base substitution T G downstream_gene_variant MELA-AU 1 51003899 51003899 single base substitution T G intron_variant MELA-AU 1 51005438 51005438 single base substitution T A intron_variant MELA-AU 1 51005737 51005737 single base substitution G A intron_variant MELA-AU 1 51006458 51006458 single base substitution A G intron_variant MELA-AU 1 51006528 51006528 single base substitution G A intron_variant MELA-AU 1 51006701 51006702 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51007365 51007365 single base substitution G A intron_variant MELA-AU 1 51007731 51007731 single base substitution G A intron_variant MELA-AU 1 51008563 51008563 single base substitution G A intron_variant MELA-AU 1 51008873 51008873 single base substitution C T intron_variant MELA-AU 1 51008949 51008950 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51008972 51008972 single base substitution G A intron_variant MELA-AU 1 51009031 51009031 single base substitution G A intron_variant MELA-AU 1 51009192 51009192 single base substitution G A intron_variant MELA-AU 1 51010074 51010074 single base substitution G A intron_variant MELA-AU 1 51010403 51010403 single base substitution G A intron_variant MELA-AU 1 51010417 51010417 single base substitution G A intron_variant MELA-AU 1 51010485 51010485 single base substitution A G intron_variant MELA-AU 1 51010760 51010760 single base substitution G A intron_variant MELA-AU 1 51011725 51011725 single base substitution C T intron_variant MELA-AU 1 51011974 51011974 single base substitution G A intron_variant MELA-AU 1 51012009 51012009 single base substitution G A intron_variant MELA-AU 1 51012247 51012247 single base substitution A C intron_variant MELA-AU 1 51012331 51012331 single base substitution C T intron_variant MELA-AU 1 51012371 51012371 single base substitution G A intron_variant MELA-AU 1 51012465 51012465 single base substitution G A intron_variant MELA-AU 1 51012722 51012724 multiple base substitution (>=2bp and <=200bp) GGA AAG intron_variant MELA-AU 1 51012981 51012981 single base substitution G A intron_variant MELA-AU 1 51013071 51013071 single base substitution G A intron_variant MELA-AU 1 51013303 51013303 single base substitution C T intron_variant MELA-AU 1 51013305 51013305 single base substitution C T intron_variant MELA-AU 1 51014143 51014143 single base substitution C T intron_variant MELA-AU 1 51014439 51014439 single base substitution C T intron_variant MELA-AU 1 51014985 51014985 single base substitution G A intron_variant MELA-AU 1 51015220 51015220 single base substitution G A intron_variant MELA-AU 1 51015645 51015645 single base substitution G C intron_variant MELA-AU 1 51015841 51015841 single base substitution G A intron_variant MELA-AU 1 51015846 51015846 single base substitution A G intron_variant MELA-AU 1 51016385 51016385 single base substitution G A intron_variant MELA-AU 1 51016459 51016459 single base substitution C T intron_variant MELA-AU 1 51017003 51017003 single base substitution G A intron_variant MELA-AU 1 51017315 51017315 single base substitution C T intron_variant MELA-AU 1 51017758 51017758 single base substitution G A intron_variant MELA-AU 1 51017833 51017833 single base substitution G A intron_variant MELA-AU 1 51017876 51017876 single base substitution G A intron_variant MELA-AU 1 51018345 51018345 single base substitution G A intron_variant MELA-AU 1 51018393 51018393 single base substitution T C intron_variant MELA-AU 1 51018438 51018438 single base substitution G A intron_variant MELA-AU 1 51018450 51018450 single base substitution G A intron_variant MELA-AU 1 51018598 51018598 single base substitution A T intron_variant MELA-AU 1 51018709 51018709 single base substitution G A intron_variant MELA-AU 1 51019371 51019371 single base substitution G A intron_variant MELA-AU 1 51019410 51019410 single base substitution G A intron_variant MELA-AU 1 51020064 51020064 single base substitution G T intron_variant MELA-AU 1 51020127 51020127 single base substitution A T intron_variant MELA-AU 1 51021314 51021314 single base substitution G A intron_variant MELA-AU 1 51021348 51021348 single base substitution A T intron_variant MELA-AU 1 51021355 51021356 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51021671 51021671 single base substitution G A intron_variant MELA-AU 1 51022062 51022062 single base substitution G A intron_variant MELA-AU 1 51022070 51022070 single base substitution G A intron_variant MELA-AU 1 51023095 51023095 single base substitution G A intron_variant MELA-AU 1 51023095 51023095 single base substitution G T intron_variant MELA-AU 1 51023415 51023415 single base substitution G A intron_variant MELA-AU 1 51024084 51024084 single base substitution G A intron_variant MELA-AU 1 51024089 51024089 single base substitution G A intron_variant MELA-AU 1 51024180 51024180 single base substitution C T intron_variant MELA-AU 1 51024908 51024908 single base substitution G C intron_variant MELA-AU 1 51025406 51025406 single base substitution G A intron_variant MELA-AU 1 51025832 51025832 single base substitution G A intron_variant MELA-AU 1 51026063 51026063 single base substitution G A intron_variant MELA-AU 1 51027629 51027629 single base substitution G A intron_variant MELA-AU 1 51028278 51028279 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51028709 51028709 single base substitution G A intron_variant MELA-AU 1 51028788 51028788 single base substitution G A intron_variant MELA-AU 1 51029324 51029324 single base substitution G A intron_variant MELA-AU 1 51029467 51029467 single base substitution T A intron_variant MELA-AU 1 51030168 51030168 single base substitution A C intron_variant MELA-AU 1 51031799 51031799 single base substitution G A intron_variant MELA-AU 1 51031834 51031834 single base substitution G A intron_variant MELA-AU 1 51032214 51032214 single base substitution G A intron_variant MELA-AU 1 51032685 51032685 single base substitution G A intron_variant MELA-AU 1 51032830 51032830 single base substitution C A exon_variant MELA-AU 1 51032830 51032830 single base substitution C A missense_variant C154F 461G>T MELA-AU 1 51032830 51032830 single base substitution C A missense_variant C396F 1187G>T MELA-AU 1 51032876 51032876 single base substitution G A exon_variant MELA-AU 1 51032876 51032876 single base substitution G A missense_variant H139Y 415C>T MELA-AU 1 51032876 51032876 single base substitution G A missense_variant H381Y 1141C>T MELA-AU 1 51033095 51033095 single base substitution A G intron_variant MELA-AU 1 51034078 51034078 single base substitution G A intron_variant MELA-AU 1 51034231 51034231 single base substitution G A intron_variant MELA-AU 1 51034834 51034834 single base substitution G A intron_variant MELA-AU 1 51034963 51034963 single base substitution T A intron_variant MELA-AU 1 51034973 51034973 single base substitution G A intron_variant MELA-AU 1 51035098 51035098 single base substitution G A intron_variant MELA-AU 1 51035178 51035205 deletion of <=200bp ATTAACAAATTCAGAACTCTTCTTCTTA - intron_variant MELA-AU 1 51035563 51035563 single base substitution G A intron_variant MELA-AU 1 51035988 51035988 single base substitution G A intron_variant MELA-AU 1 51036151 51036151 single base substitution G A intron_variant MELA-AU 1 51036315 51036315 single base substitution A T intron_variant MELA-AU 1 51036366 51036366 single base substitution A T intron_variant MELA-AU 1 51036642 51036642 single base substitution A G intron_variant MELA-AU 1 51036772 51036772 single base substitution C T intron_variant MELA-AU 1 51037227 51037227 single base substitution G A intron_variant MELA-AU 1 51038159 51038159 single base substitution G A intron_variant MELA-AU 1 51038431 51038431 single base substitution G A intron_variant MELA-AU 1 51038523 51038523 single base substitution G A intron_variant MELA-AU 1 51040188 51040189 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51040771 51040771 single base substitution G A intron_variant MELA-AU 1 51041700 51041700 single base substitution A G intron_variant MELA-AU 1 51042106 51042106 single base substitution G A intron_variant MELA-AU 1 51042280 51042280 single base substitution G A intron_variant MELA-AU 1 51043287 51043287 single base substitution G A intron_variant MELA-AU 1 51043934 51043935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51044300 51044300 single base substitution G A intron_variant MELA-AU 1 51044330 51044330 single base substitution G A intron_variant MELA-AU 1 51044331 51044331 single base substitution G A intron_variant MELA-AU 1 51044338 51044338 single base substitution T A intron_variant MELA-AU 1 51044679 51044679 single base substitution G A intron_variant MELA-AU 1 51044908 51044908 single base substitution G A intron_variant MELA-AU 1 51045553 51045553 single base substitution G A intron_variant MELA-AU 1 51045953 51045953 single base substitution G A intron_variant MELA-AU 1 51046132 51046132 single base substitution G A intron_variant MELA-AU 1 51046441 51046441 single base substitution C T intron_variant MELA-AU 1 51046699 51046699 single base substitution G A intron_variant MELA-AU 1 51047033 51047033 single base substitution G A intron_variant MELA-AU 1 51047371 51047371 single base substitution G A intron_variant MELA-AU 1 51047656 51047656 single base substitution G A intron_variant MELA-AU 1 51048163 51048163 single base substitution C T intron_variant MELA-AU 1 51048378 51048378 single base substitution G A splice_region_variant MELA-AU 1 51048384 51048384 single base substitution G T intron_variant MELA-AU 1 51048733 51048733 single base substitution G A intron_variant MELA-AU 1 51048938 51048938 single base substitution G A intron_variant MELA-AU 1 51049502 51049502 single base substitution G A intron_variant MELA-AU 1 51050014 51050014 single base substitution C T intron_variant MELA-AU 1 51050171 51050171 single base substitution A G intron_variant MELA-AU 1 51050564 51050564 single base substitution G A intron_variant MELA-AU 1 51050733 51050733 single base substitution G A intron_variant MELA-AU 1 51050734 51050734 single base substitution G A intron_variant MELA-AU 1 51051277 51051277 single base substitution C T intron_variant MELA-AU 1 51052067 51052067 single base substitution C A intron_variant MELA-AU 1 51052740 51052740 single base substitution G A intron_variant MELA-AU 1 51052763 51052763 single base substitution G A intron_variant MELA-AU 1 51053157 51053157 single base substitution A T intron_variant MELA-AU 1 51053162 51053162 single base substitution G A intron_variant MELA-AU 1 51053823 51053823 single base substitution G A intron_variant MELA-AU 1 51055079 51055079 single base substitution G A intron_variant MELA-AU 1 51055222 51055223 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51055822 51055822 single base substitution G A intron_variant MELA-AU 1 51056200 51056200 single base substitution C T intron_variant MELA-AU 1 51056202 51056202 single base substitution A T intron_variant MELA-AU 1 51056778 51056778 single base substitution T G intron_variant MELA-AU 1 51057170 51057170 single base substitution C T intron_variant MELA-AU 1 51057515 51057515 single base substitution T C intron_variant MELA-AU 1 51057537 51057537 single base substitution G A intron_variant MELA-AU 1 51057722 51057722 single base substitution G A intron_variant MELA-AU 1 51057736 51057736 single base substitution A T intron_variant MELA-AU 1 51058145 51058145 single base substitution G A intron_variant MELA-AU 1 51058414 51058414 single base substitution G A intron_variant MELA-AU 1 51058738 51058738 single base substitution G A intron_variant MELA-AU 1 51059115 51059115 single base substitution G A intron_variant MELA-AU 1 51059633 51059633 single base substitution A C intron_variant MELA-AU 1 51059895 51059895 single base substitution G A intron_variant MELA-AU 1 51060120 51060120 single base substitution T C intron_variant MELA-AU 1 51060357 51060357 single base substitution A T intron_variant MELA-AU 1 51060561 51060561 insertion of <=200bp - TA intron_variant MELA-AU 1 51060648 51060649 deletion of <=200bp TT - intron_variant MELA-AU 1 51060749 51060749 single base substitution G A intron_variant MELA-AU 1 51060800 51060800 single base substitution C T intron_variant MELA-AU 1 51060946 51060946 single base substitution G A intron_variant MELA-AU 1 51061078 51061078 single base substitution T C intron_variant MELA-AU 1 51061435 51061435 single base substitution G A intron_variant MELA-AU 1 51061478 51061478 single base substitution G A intron_variant MELA-AU 1 51061493 51061493 single base substitution G A intron_variant MELA-AU 1 51061496 51061496 insertion of <=200bp - T intron_variant MELA-AU 1 51061744 51061744 single base substitution G A intron_variant MELA-AU 1 51062915 51062915 single base substitution A C intron_variant MELA-AU 1 51063060 51063060 single base substitution C G intron_variant MELA-AU 1 51063148 51063148 single base substitution T A intron_variant MELA-AU 1 51063714 51063714 single base substitution C A intron_variant MELA-AU 1 51064982 51064982 single base substitution A C intron_variant MELA-AU 1 51065042 51065042 single base substitution C T intron_variant MELA-AU 1 51066234 51066234 single base substitution T C intron_variant MELA-AU 1 51066810 51066810 single base substitution C G intron_variant MELA-AU 1 51066907 51066907 single base substitution A G intron_variant MELA-AU 1 51068163 51068163 single base substitution T A intron_variant MELA-AU 1 51068503 51068503 single base substitution A T intron_variant MELA-AU 1 51068564 51068564 single base substitution G T intron_variant MELA-AU 1 51068828 51068828 single base substitution C T intron_variant MELA-AU 1 51069012 51069012 single base substitution C T intron_variant MELA-AU 1 51069063 51069063 single base substitution G A intron_variant MELA-AU 1 51069282 51069282 single base substitution C T intron_variant MELA-AU 1 51070020 51070020 single base substitution G A intron_variant MELA-AU 1 51070643 51070643 single base substitution C T intron_variant MELA-AU 1 51070657 51070657 single base substitution G A intron_variant MELA-AU 1 51071832 51071832 single base substitution C T intron_variant MELA-AU 1 51072122 51072122 single base substitution G A intron_variant MELA-AU 1 51072911 51072911 single base substitution G A intron_variant MELA-AU 1 51072911 51072911 single base substitution G A upstream_gene_variant MELA-AU 1 51072934 51072934 single base substitution G A intron_variant MELA-AU 1 51072934 51072934 single base substitution G A upstream_gene_variant MELA-AU 1 51072997 51072997 single base substitution T C intron_variant MELA-AU 1 51072997 51072997 single base substitution T C upstream_gene_variant MELA-AU 1 51073850 51073850 single base substitution G A intron_variant MELA-AU 1 51073850 51073850 single base substitution G A upstream_gene_variant MELA-AU 1 51075613 51075613 single base substitution G A intron_variant MELA-AU 1 51075613 51075613 single base substitution G A upstream_gene_variant MELA-AU 1 51076609 51076609 single base substitution A T intron_variant MELA-AU 1 51076609 51076609 single base substitution A T upstream_gene_variant MELA-AU 1 51076902 51076902 single base substitution G A intron_variant MELA-AU 1 51076902 51076902 single base substitution G A upstream_gene_variant MELA-AU 1 51078455 51078455 single base substitution C T intron_variant MELA-AU 1 51078455 51078455 single base substitution C T upstream_gene_variant MELA-AU 1 51078592 51078592 single base substitution G A intron_variant MELA-AU 1 51078592 51078592 single base substitution G A upstream_gene_variant MELA-AU 1 51080087 51080087 single base substitution G A intron_variant MELA-AU 1 51080087 51080087 single base substitution G A upstream_gene_variant MELA-AU 1 51080283 51080283 single base substitution G T intron_variant MELA-AU 1 51080283 51080283 single base substitution G T upstream_gene_variant MELA-AU 1 51080404 51080404 single base substitution G A intron_variant MELA-AU 1 51080404 51080404 single base substitution G A upstream_gene_variant MELA-AU 1 51080437 51080437 single base substitution G A intron_variant MELA-AU 1 51080437 51080437 single base substitution G A upstream_gene_variant MELA-AU 1 51081049 51081049 single base substitution G A intron_variant MELA-AU 1 51081049 51081049 single base substitution G A upstream_gene_variant MELA-AU 1 51082329 51082329 single base substitution A T intron_variant MELA-AU 1 51082329 51082329 single base substitution A T upstream_gene_variant MELA-AU 1 51082545 51082545 single base substitution A T intron_variant MELA-AU 1 51082545 51082545 single base substitution A T upstream_gene_variant MELA-AU 1 51083162 51083162 single base substitution G A intron_variant MELA-AU 1 51083162 51083162 single base substitution G A upstream_gene_variant MELA-AU 1 51083658 51083658 single base substitution G A intron_variant MELA-AU 1 51083659 51083659 single base substitution G A intron_variant MELA-AU 1 51083845 51083845 single base substitution C T intron_variant MELA-AU 1 51083865 51083865 single base substitution G A intron_variant MELA-AU 1 51084250 51084250 single base substitution A T intron_variant MELA-AU 1 51084401 51084401 single base substitution G A intron_variant MELA-AU 1 51084565 51084565 single base substitution C G intron_variant MELA-AU 1 51085179 51085179 single base substitution G A intron_variant MELA-AU 1 51085477 51085477 single base substitution G A intron_variant MELA-AU 1 51085496 51085496 single base substitution T C intron_variant MELA-AU 1 51085684 51085684 single base substitution G A intron_variant MELA-AU 1 51085801 51085801 single base substitution G A intron_variant MELA-AU 1 51086007 51086007 single base substitution C T intron_variant MELA-AU 1 51086660 51086660 single base substitution G A intron_variant MELA-AU 1 51087379 51087379 single base substitution G A intron_variant MELA-AU 1 51088349 51088349 single base substitution G A intron_variant MELA-AU 1 51088431 51088431 single base substitution C T intron_variant MELA-AU 1 51088930 51088930 single base substitution G A intron_variant MELA-AU 1 51088951 51088951 single base substitution C A intron_variant MELA-AU 1 51089059 51089059 single base substitution G A intron_variant MELA-AU 1 51089774 51089774 single base substitution G A intron_variant MELA-AU 1 51090231 51090231 single base substitution G A intron_variant MELA-AU 1 51090319 51090319 single base substitution G A intron_variant MELA-AU 1 51090408 51090408 single base substitution A G intron_variant MELA-AU 1 51091125 51091125 single base substitution T A intron_variant MELA-AU 1 51091305 51091305 single base substitution G A intron_variant MELA-AU 1 51091744 51091744 single base substitution T A intron_variant MELA-AU 1 51091809 51091809 single base substitution A T intron_variant MELA-AU 1 51092129 51092129 single base substitution G A intron_variant MELA-AU 1 51093089 51093089 single base substitution G A intron_variant MELA-AU 1 51093241 51093241 single base substitution A C intron_variant MELA-AU 1 51093253 51093253 single base substitution G A intron_variant MELA-AU 1 51093354 51093354 single base substitution G A intron_variant MELA-AU 1 51093547 51093547 single base substitution A C intron_variant MELA-AU 1 51094087 51094087 single base substitution G A intron_variant MELA-AU 1 51094565 51094565 single base substitution G A intron_variant MELA-AU 1 51094829 51094829 single base substitution G T intron_variant MELA-AU 1 51095515 51095515 single base substitution G A intron_variant MELA-AU 1 51095637 51095637 single base substitution G T intron_variant MELA-AU 1 51095959 51095959 single base substitution C T intron_variant MELA-AU 1 51096543 51096543 single base substitution C T intron_variant MELA-AU 1 51096876 51096876 single base substitution C T intron_variant MELA-AU 1 51096992 51096992 single base substitution G A intron_variant MELA-AU 1 51097226 51097226 single base substitution A C intron_variant MELA-AU 1 51098325 51098325 single base substitution C T intron_variant MELA-AU 1 51098538 51098538 single base substitution G A intron_variant MELA-AU 1 51098593 51098593 single base substitution C T intron_variant MELA-AU 1 51099231 51099231 single base substitution G A intron_variant MELA-AU 1 51099693 51099693 single base substitution G A intron_variant MELA-AU 1 51099853 51099853 single base substitution G A intron_variant MELA-AU 1 51100584 51100584 single base substitution G A intron_variant MELA-AU 1 51100626 51100626 single base substitution T C intron_variant MELA-AU 1 51101240 51101240 single base substitution G A intron_variant MELA-AU 1 51102414 51102414 single base substitution G A intron_variant MELA-AU 1 51102782 51102782 single base substitution G A intron_variant MELA-AU 1 51102783 51102783 single base substitution G A intron_variant MELA-AU 1 51103119 51103119 single base substitution C T intron_variant MELA-AU 1 51104455 51104455 single base substitution G A intron_variant MELA-AU 1 51105131 51105131 single base substitution G A intron_variant MELA-AU 1 51105513 51105513 single base substitution G A intron_variant MELA-AU 1 51106307 51106307 single base substitution T C intron_variant MELA-AU 1 51106405 51106405 single base substitution G A intron_variant MELA-AU 1 51106726 51106726 single base substitution G A intron_variant MELA-AU 1 51106781 51106781 single base substitution G A intron_variant MELA-AU 1 51107854 51107854 single base substitution A C intron_variant MELA-AU 1 51108856 51108856 single base substitution G A intron_variant MELA-AU 1 51109240 51109240 single base substitution G A intron_variant MELA-AU 1 51110209 51110212 deletion of <=200bp AAAT - intron_variant MELA-AU 1 51110883 51110883 single base substitution T G intron_variant MELA-AU 1 51111358 51111358 single base substitution G A intron_variant MELA-AU 1 51111493 51111494 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51111517 51111517 single base substitution G A intron_variant MELA-AU 1 51113293 51113293 single base substitution C A intron_variant MELA-AU 1 51115717 51115717 single base substitution G A intron_variant MELA-AU 1 51115881 51115882 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51116174 51116174 single base substitution C T intron_variant MELA-AU 1 51116733 51116733 single base substitution A G intron_variant MELA-AU 1 51117053 51117053 single base substitution T A intron_variant MELA-AU 1 51117123 51117123 single base substitution C G intron_variant MELA-AU 1 51117257 51117257 single base substitution C A intron_variant MELA-AU 1 51117456 51117456 single base substitution C T intron_variant MELA-AU 1 51118157 51118157 single base substitution G A intron_variant MELA-AU 1 51119576 51119576 single base substitution G A intron_variant MELA-AU 1 51120712 51120712 single base substitution G A intron_variant MELA-AU 1 51121578 51121578 single base substitution A C intron_variant MELA-AU 1 51121603 51121603 single base substitution G A intron_variant MELA-AU 1 51121647 51121647 single base substitution G A intron_variant MELA-AU 1 51121795 51121796 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51122111 51122111 single base substitution G A intron_variant MELA-AU 1 51122249 51122249 single base substitution G A intron_variant MELA-AU 1 51123261 51123261 single base substitution G A intron_variant MELA-AU 1 51123820 51123820 single base substitution G A intron_variant MELA-AU 1 51124115 51124115 single base substitution C T intron_variant MELA-AU 1 51124361 51124361 single base substitution A G intron_variant MELA-AU 1 51124737 51124738 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51124974 51124974 single base substitution G A intron_variant MELA-AU 1 51125001 51125001 single base substitution G A intron_variant MELA-AU 1 51125017 51125017 single base substitution G A intron_variant MELA-AU 1 51125034 51125034 single base substitution G A intron_variant MELA-AU 1 51125353 51125353 single base substitution C T intron_variant MELA-AU 1 51126513 51126513 single base substitution T C intron_variant MELA-AU 1 51126621 51126621 single base substitution G A intron_variant MELA-AU 1 51126665 51126665 single base substitution G A intron_variant MELA-AU 1 51128272 51128272 single base substitution T C intron_variant MELA-AU 1 51128303 51128303 single base substitution A G intron_variant MELA-AU 1 51129792 51129793 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51130628 51130628 single base substitution G A intron_variant MELA-AU 1 51131378 51131378 single base substitution T C intron_variant MELA-AU 1 51131635 51131635 single base substitution G A intron_variant MELA-AU 1 51131659 51131659 single base substitution G A intron_variant MELA-AU 1 51131821 51131821 single base substitution G A intron_variant MELA-AU 1 51132859 51132859 single base substitution G A intron_variant MELA-AU 1 51133504 51133504 single base substitution A T intron_variant MELA-AU 1 51134511 51134511 single base substitution G A intron_variant MELA-AU 1 51135487 51135487 single base substitution C T intron_variant MELA-AU 1 51135530 51135530 single base substitution A T intron_variant MELA-AU 1 51135585 51135585 single base substitution G A intron_variant MELA-AU 1 51135719 51135719 single base substitution G A intron_variant MELA-AU 1 51135734 51135734 single base substitution G C intron_variant MELA-AU 1 51137133 51137133 single base substitution G A intron_variant MELA-AU 1 51137204 51137204 single base substitution C T intron_variant MELA-AU 1 51138533 51138533 single base substitution G A intron_variant MELA-AU 1 51139626 51139626 single base substitution G A intron_variant MELA-AU 1 51139868 51139868 single base substitution C T intron_variant MELA-AU 1 51140533 51140533 insertion of <=200bp - TATTT intron_variant MELA-AU 1 51141430 51141430 single base substitution G A intron_variant MELA-AU 1 51141917 51141917 single base substitution A G intron_variant MELA-AU 1 51142855 51142855 single base substitution A G intron_variant MELA-AU 1 51143053 51143053 single base substitution C T intron_variant MELA-AU 1 51143405 51143405 insertion of <=200bp - A intron_variant MELA-AU 1 51143406 51143406 single base substitution A G intron_variant MELA-AU 1 51143490 51143490 single base substitution C T intron_variant MELA-AU 1 51143961 51143961 single base substitution G A intron_variant MELA-AU 1 51144123 51144123 single base substitution G A intron_variant MELA-AU 1 51144178 51144178 single base substitution C T intron_variant MELA-AU 1 51144362 51144362 single base substitution G A intron_variant MELA-AU 1 51144391 51144391 single base substitution G T intron_variant MELA-AU 1 51144710 51144710 single base substitution G A intron_variant MELA-AU 1 51144753 51144753 single base substitution C T intron_variant MELA-AU 1 51144801 51144801 single base substitution C G intron_variant MELA-AU 1 51145887 51145887 single base substitution C T intron_variant MELA-AU 1 51147299 51147300 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 1 51147641 51147641 single base substitution G A intron_variant MELA-AU 1 51148321 51148321 single base substitution A G intron_variant MELA-AU 1 51148491 51148491 single base substitution C T intron_variant MELA-AU 1 51149829 51149829 single base substitution G A intron_variant MELA-AU 1 51150506 51150506 single base substitution C T intron_variant MELA-AU 1 51150677 51150677 single base substitution G A intron_variant MELA-AU 1 51150819 51150819 single base substitution G A intron_variant MELA-AU 1 51151066 51151066 single base substitution G A intron_variant MELA-AU 1 51151297 51151297 single base substitution T G intron_variant MELA-AU 1 51151911 51151911 single base substitution C T intron_variant MELA-AU 1 51152139 51152140 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51152220 51152220 single base substitution A G intron_variant MELA-AU 1 51152770 51152770 single base substitution G A intron_variant MELA-AU 1 51152936 51152936 single base substitution C T intron_variant MELA-AU 1 51153598 51153598 single base substitution G A intron_variant MELA-AU 1 51154914 51154914 single base substitution C G intron_variant MELA-AU 1 51155246 51155246 single base substitution A C intron_variant MELA-AU 1 51156067 51156067 single base substitution G A intron_variant MELA-AU 1 51156615 51156615 single base substitution C T intron_variant MELA-AU 1 51156710 51156710 single base substitution T A intron_variant MELA-AU 1 51157876 51157876 single base substitution A T intron_variant MELA-AU 1 51158662 51158662 single base substitution G A intron_variant MELA-AU 1 51159824 51159824 single base substitution G A intron_variant MELA-AU 1 51161134 51161134 single base substitution A T intron_variant MELA-AU 1 51161142 51161142 single base substitution A G intron_variant MELA-AU 1 51161401 51161401 single base substitution A G intron_variant MELA-AU 1 51162120 51162120 single base substitution A G intron_variant MELA-AU 1 51162128 51162128 single base substitution A G intron_variant MELA-AU 1 51163194 51163194 single base substitution G A intron_variant MELA-AU 1 51164314 51164314 single base substitution G A intron_variant MELA-AU 1 51165616 51165616 single base substitution T C intron_variant MELA-AU 1 51166231 51166231 single base substitution C A intron_variant MELA-AU 1 51168106 51168106 single base substitution G A downstream_gene_variant MELA-AU 1 51168106 51168106 single base substitution G A intron_variant MELA-AU 1 51169161 51169161 single base substitution T C downstream_gene_variant MELA-AU 1 51169161 51169161 single base substitution T C intron_variant MELA-AU 1 51169729 51169729 single base substitution A G downstream_gene_variant MELA-AU 1 51169729 51169729 single base substitution A G intron_variant MELA-AU 1 51171738 51171738 single base substitution G A intron_variant MELA-AU 1 51171738 51171738 single base substitution G A upstream_gene_variant MELA-AU 1 51172327 51172327 single base substitution G A intron_variant MELA-AU 1 51172327 51172327 single base substitution G A upstream_gene_variant MELA-AU 1 51173146 51173146 single base substitution G A intron_variant MELA-AU 1 51173146 51173146 single base substitution G A upstream_gene_variant MELA-AU 1 51173195 51173195 single base substitution A G intron_variant MELA-AU 1 51173195 51173195 single base substitution A G upstream_gene_variant MELA-AU 1 51173406 51173406 single base substitution G A intron_variant MELA-AU 1 51173406 51173406 single base substitution G A upstream_gene_variant MELA-AU 1 51173914 51173914 single base substitution G A intron_variant MELA-AU 1 51173914 51173914 single base substitution G A upstream_gene_variant MELA-AU 1 51173988 51173988 single base substitution A G intron_variant MELA-AU 1 51173988 51173988 single base substitution A G upstream_gene_variant MELA-AU 1 51174956 51174956 single base substitution G A intron_variant MELA-AU 1 51174956 51174956 single base substitution G A upstream_gene_variant MELA-AU 1 51175777 51175777 single base substitution G A intron_variant MELA-AU 1 51175777 51175777 single base substitution G A upstream_gene_variant MELA-AU 1 51175829 51175829 single base substitution G A intron_variant MELA-AU 1 51175829 51175829 single base substitution G A upstream_gene_variant MELA-AU 1 51176668 51176668 single base substitution A G intron_variant MELA-AU 1 51176668 51176668 single base substitution A G upstream_gene_variant MELA-AU 1 51177911 51177911 single base substitution G A intron_variant MELA-AU 1 51178120 51178120 single base substitution G A intron_variant MELA-AU 1 51178735 51178735 single base substitution G A intron_variant MELA-AU 1 51179157 51179157 single base substitution G A intron_variant MELA-AU 1 51179858 51179858 single base substitution G A intron_variant MELA-AU 1 51180190 51180190 single base substitution A C intron_variant MELA-AU 1 51181074 51181074 single base substitution G A intron_variant MELA-AU 1 51181258 51181258 single base substitution A T intron_variant MELA-AU 1 51181575 51181575 single base substitution G A intron_variant MELA-AU 1 51181766 51181766 single base substitution G A intron_variant MELA-AU 1 51181980 51181980 single base substitution G A intron_variant MELA-AU 1 51182288 51182288 single base substitution G A intron_variant MELA-AU 1 51182354 51182354 single base substitution G A intron_variant MELA-AU 1 51182394 51182394 single base substitution A T intron_variant MELA-AU 1 51182647 51182647 single base substitution G T intron_variant MELA-AU 1 51183660 51183660 insertion of <=200bp - TTTA intron_variant MELA-AU 1 51183707 51183707 single base substitution A G intron_variant MELA-AU 1 51183715 51183715 single base substitution G A intron_variant MELA-AU 1 51184906 51184906 single base substitution C G intron_variant MELA-AU 1 51185524 51185524 single base substitution T A intron_variant MELA-AU 1 51185979 51185979 single base substitution G A intron_variant MELA-AU 1 51186364 51186364 single base substitution G A intron_variant MELA-AU 1 51186574 51186574 single base substitution C T intron_variant MELA-AU 1 51186782 51186782 single base substitution C T intron_variant MELA-AU 1 51186916 51186916 single base substitution G A intron_variant MELA-AU 1 51186950 51186950 single base substitution G A intron_variant MELA-AU 1 51187167 51187167 single base substitution G A intron_variant MELA-AU 1 51187463 51187463 single base substitution T C intron_variant MELA-AU 1 51187884 51187884 single base substitution G A intron_variant MELA-AU 1 51189406 51189406 single base substitution A T intron_variant MELA-AU 1 51190197 51190198 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51190861 51190861 single base substitution G A intron_variant MELA-AU 1 51191036 51191036 single base substitution G A intron_variant MELA-AU 1 51191474 51191474 single base substitution G A intron_variant MELA-AU 1 51191981 51191981 single base substitution A T intron_variant MELA-AU 1 51192018 51192018 single base substitution G A intron_variant MELA-AU 1 51192151 51192151 single base substitution G A intron_variant MELA-AU 1 51192472 51192472 single base substitution A G intron_variant MELA-AU 1 51192484 51192484 single base substitution G A intron_variant MELA-AU 1 51192541 51192541 single base substitution G A intron_variant MELA-AU 1 51192619 51192619 single base substitution C T intron_variant MELA-AU 1 51193195 51193195 single base substitution G A intron_variant MELA-AU 1 51193631 51193631 single base substitution G A intron_variant MELA-AU 1 51194099 51194099 single base substitution G A intron_variant MELA-AU 1 51194142 51194142 single base substitution G A intron_variant MELA-AU 1 51194288 51194288 single base substitution C A intron_variant MELA-AU 1 51194718 51194718 single base substitution A C intron_variant MELA-AU 1 51195061 51195061 single base substitution G A intron_variant MELA-AU 1 51196241 51196241 single base substitution C T intron_variant MELA-AU 1 51196339 51196339 single base substitution A C intron_variant MELA-AU 1 51196714 51196714 single base substitution A T intron_variant MELA-AU 1 51196973 51196973 single base substitution C T intron_variant MELA-AU 1 51197399 51197399 single base substitution G A intron_variant MELA-AU 1 51197533 51197533 single base substitution G A intron_variant MELA-AU 1 51199290 51199290 single base substitution C T intron_variant MELA-AU 1 51199362 51199362 single base substitution G A intron_variant MELA-AU 1 51200031 51200032 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51200754 51200754 single base substitution C T intron_variant MELA-AU 1 51201111 51201111 single base substitution T C intron_variant MELA-AU 1 51201195 51201195 deletion of <=200bp A - intron_variant MELA-AU 1 51201406 51201406 single base substitution G C intron_variant MELA-AU 1 51202060 51202060 single base substitution C T intron_variant MELA-AU 1 51202255 51202255 single base substitution C T intron_variant MELA-AU 1 51202540 51202540 single base substitution G A intron_variant MELA-AU 1 51203078 51203079 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 51203628 51203628 single base substitution G A intron_variant MELA-AU 1 51204579 51204579 single base substitution G A exon_variant MELA-AU 1 51204579 51204579 single base substitution G A synonymous_variant V169V 507C>T MELA-AU 1 51205286 51205286 single base substitution A C intron_variant MELA-AU 1 51205890 51205890 single base substitution G A intron_variant MELA-AU 1 51206000 51206000 single base substitution G A intron_variant MELA-AU 1 51206337 51206337 single base substitution C T intron_variant MELA-AU 1 51206854 51206854 single base substitution G A intron_variant MELA-AU 1 51207363 51207363 single base substitution G A intron_variant MELA-AU 1 51207372 51207372 single base substitution G A intron_variant MELA-AU 1 51207473 51207473 single base substitution G T intron_variant MELA-AU 1 51207758 51207758 single base substitution A G intron_variant MELA-AU 1 51208894 51208894 single base substitution T C intron_variant MELA-AU 1 51209253 51209253 single base substitution G A intron_variant MELA-AU 1 51211568 51211568 single base substitution T C intron_variant MELA-AU 1 51212846 51212846 single base substitution G A intron_variant MELA-AU 1 51212871 51212871 single base substitution G A intron_variant MELA-AU 1 51213021 51213021 single base substitution G A intron_variant MELA-AU 1 51213061 51213061 single base substitution A G intron_variant MELA-AU 1 51213313 51213313 single base substitution G A intron_variant MELA-AU 1 51213445 51213445 single base substitution G A intron_variant MELA-AU 1 51213492 51213492 single base substitution T G intron_variant MELA-AU 1 51213858 51213858 single base substitution G A intron_variant MELA-AU 1 51214258 51214258 single base substitution C T intron_variant MELA-AU 1 51215658 51215658 single base substitution A T intron_variant MELA-AU 1 51216251 51216251 single base substitution C T intron_variant MELA-AU 1 51216408 51216408 single base substitution G T intron_variant MELA-AU 1 51217058 51217058 single base substitution G A intron_variant MELA-AU 1 51218005 51218005 single base substitution A G intron_variant MELA-AU 1 51218214 51218214 single base substitution G A intron_variant MELA-AU 1 51218934 51218934 single base substitution G A intron_variant MELA-AU 1 51219755 51219755 single base substitution G A intron_variant MELA-AU 1 51220126 51220126 single base substitution T C intron_variant MELA-AU 1 51220143 51220143 single base substitution C T intron_variant MELA-AU 1 51220211 51220211 single base substitution G A intron_variant MELA-AU 1 51220547 51220547 single base substitution C T intron_variant MELA-AU 1 51220576 51220576 single base substitution G A intron_variant MELA-AU 1 51220664 51220664 single base substitution G A intron_variant MELA-AU 1 51221315 51221315 single base substitution G A intron_variant MELA-AU 1 51221468 51221468 single base substitution G A intron_variant MELA-AU 1 51221659 51221659 single base substitution G A intron_variant MELA-AU 1 51221689 51221689 single base substitution G A intron_variant MELA-AU 1 51221701 51221702 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51222353 51222353 single base substitution G A intron_variant MELA-AU 1 51222581 51222581 single base substitution G A intron_variant MELA-AU 1 51223153 51223153 single base substitution C G intron_variant MELA-AU 1 51223483 51223483 single base substitution T C intron_variant MELA-AU 1 51223495 51223495 single base substitution G A intron_variant MELA-AU 1 51223865 51223865 single base substitution G A intron_variant MELA-AU 1 51224176 51224176 single base substitution C G intron_variant MELA-AU 1 51224605 51224605 single base substitution C T intron_variant MELA-AU 1 51225638 51225638 single base substitution G C intron_variant MELA-AU 1 51225811 51225811 single base substitution A G intron_variant MELA-AU 1 51226079 51226079 single base substitution C T intron_variant MELA-AU 1 51226194 51226194 single base substitution G A intron_variant MELA-AU 1 51226273 51226273 single base substitution G A intron_variant MELA-AU 1 51226768 51226768 single base substitution G A intron_variant MELA-AU 1 51227315 51227315 single base substitution T C intron_variant MELA-AU 1 51229708 51229708 single base substitution G A intron_variant MELA-AU 1 51230413 51230413 single base substitution T C intron_variant MELA-AU 1 51230451 51230451 single base substitution T C intron_variant MELA-AU 1 51230498 51230498 single base substitution T G intron_variant MELA-AU 1 51231070 51231070 single base substitution G A intron_variant MELA-AU 1 51231415 51231415 single base substitution C T intron_variant MELA-AU 1 51231752 51231752 single base substitution G A intron_variant MELA-AU 1 51232260 51232260 single base substitution G A intron_variant MELA-AU 1 51232276 51232276 single base substitution A G intron_variant MELA-AU 1 51232298 51232298 single base substitution G A intron_variant MELA-AU 1 51232338 51232338 single base substitution T C intron_variant MELA-AU 1 51233240 51233240 single base substitution G A intron_variant MELA-AU 1 51233259 51233259 single base substitution G A intron_variant MELA-AU 1 51233425 51233425 single base substitution G A intron_variant MELA-AU 1 51233607 51233607 single base substitution C G intron_variant MELA-AU 1 51234298 51234298 single base substitution G A intron_variant MELA-AU 1 51234785 51234785 single base substitution G A intron_variant MELA-AU 1 51234918 51234918 single base substitution G A intron_variant MELA-AU 1 51235366 51235366 single base substitution C T intron_variant MELA-AU 1 51235984 51235984 insertion of <=200bp - CC intron_variant MELA-AU 1 51236745 51236745 single base substitution C T intron_variant MELA-AU 1 51237129 51237129 single base substitution G A intron_variant MELA-AU 1 51237468 51237468 single base substitution G A intron_variant MELA-AU 1 51238577 51238577 single base substitution A G intron_variant MELA-AU 1 51238786 51238786 deletion of <=200bp A - intron_variant MELA-AU 1 51239925 51239925 single base substitution A G intron_variant MELA-AU 1 51240438 51240438 single base substitution T A intron_variant MELA-AU 1 51240775 51240775 single base substitution A T intron_variant MELA-AU 1 51241080 51241080 single base substitution C T intron_variant MELA-AU 1 51241219 51241219 single base substitution G A intron_variant MELA-AU 1 51241430 51241430 single base substitution G A intron_variant MELA-AU 1 51241589 51241589 single base substitution G A intron_variant MELA-AU 1 51241672 51241672 single base substitution T A intron_variant MELA-AU 1 51241829 51241829 single base substitution G A intron_variant MELA-AU 1 51241987 51241987 single base substitution G A intron_variant MELA-AU 1 51242102 51242102 single base substitution G A intron_variant MELA-AU 1 51242299 51242299 single base substitution G A intron_variant MELA-AU 1 51242581 51242581 single base substitution G A intron_variant MELA-AU 1 51242615 51242615 single base substitution G A intron_variant MELA-AU 1 51242637 51242637 single base substitution A T intron_variant MELA-AU 1 51242707 51242707 single base substitution G A intron_variant MELA-AU 1 51242775 51242775 single base substitution A G intron_variant MELA-AU 1 51242898 51242898 single base substitution A G intron_variant MELA-AU 1 51242940 51242940 single base substitution A T intron_variant MELA-AU 1 51243289 51243289 single base substitution A C intron_variant MELA-AU 1 51243734 51243734 single base substitution T G intron_variant MELA-AU 1 51244340 51244340 single base substitution G A intron_variant MELA-AU 1 51245011 51245011 single base substitution G A intron_variant MELA-AU 1 51245307 51245307 single base substitution T A intron_variant MELA-AU 1 51245869 51245869 single base substitution G A intron_variant MELA-AU 1 51246252 51246252 single base substitution T C intron_variant MELA-AU 1 51246623 51246623 single base substitution G A intron_variant MELA-AU 1 51247519 51247519 single base substitution G A intron_variant MELA-AU 1 51248632 51248632 single base substitution G A intron_variant MELA-AU 1 51249219 51249219 single base substitution G A intron_variant MELA-AU 1 51249553 51249553 single base substitution A C intron_variant MELA-AU 1 51249894 51249894 single base substitution G A intron_variant MELA-AU 1 51250235 51250235 single base substitution C T intron_variant MELA-AU 1 51250350 51250350 single base substitution G A intron_variant MELA-AU 1 51250564 51250564 single base substitution G A intron_variant MELA-AU 1 51251310 51251310 single base substitution G A intron_variant MELA-AU 1 51251523 51251523 single base substitution G A intron_variant MELA-AU 1 51251931 51251931 single base substitution G A intron_variant MELA-AU 1 51252127 51252127 single base substitution G A intron_variant MELA-AU 1 51252135 51252135 single base substitution G A intron_variant MELA-AU 1 51253198 51253198 single base substitution C T intron_variant MELA-AU 1 51254159 51254159 single base substitution A G intron_variant MELA-AU 1 51254450 51254450 single base substitution C T intron_variant MELA-AU 1 51254696 51254696 single base substitution G A intron_variant MELA-AU 1 51254784 51254784 single base substitution G A intron_variant MELA-AU 1 51255957 51255957 single base substitution G A intron_variant MELA-AU 1 51256807 51256807 single base substitution G A intron_variant MELA-AU 1 51257140 51257140 single base substitution T G intron_variant MELA-AU 1 51257719 51257719 single base substitution G A intron_variant MELA-AU 1 51257969 51257969 single base substitution A T intron_variant MELA-AU 1 51258325 51258325 single base substitution C T intron_variant MELA-AU 1 51258414 51258414 single base substitution C T intron_variant MELA-AU 1 51258451 51258451 single base substitution G A intron_variant MELA-AU 1 51258940 51258940 single base substitution C T intron_variant MELA-AU 1 51259013 51259013 single base substitution A C intron_variant MELA-AU 1 51259152 51259152 single base substitution T G intron_variant MELA-AU 1 51260286 51260286 single base substitution A T intron_variant MELA-AU 1 51260951 51260951 single base substitution C T intron_variant MELA-AU 1 51261317 51261317 single base substitution G A intron_variant MELA-AU 1 51261515 51261515 single base substitution G A intron_variant MELA-AU 1 51261790 51261790 single base substitution G A intron_variant MELA-AU 1 51262282 51262282 single base substitution G A intron_variant MELA-AU 1 51262383 51262383 single base substitution G A intron_variant MELA-AU 1 51262439 51262439 single base substitution C T intron_variant MELA-AU 1 51262564 51262565 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51262715 51262715 single base substitution G A intron_variant MELA-AU 1 51263538 51263538 single base substitution G A intron_variant MELA-AU 1 51264646 51264646 single base substitution G A intron_variant MELA-AU 1 51265115 51265115 single base substitution G A intron_variant MELA-AU 1 51265252 51265252 single base substitution G A intron_variant MELA-AU 1 51266289 51266289 single base substitution C T intron_variant MELA-AU 1 51266557 51266557 single base substitution G A intron_variant MELA-AU 1 51266601 51266601 single base substitution G A intron_variant MELA-AU 1 51266739 51266739 single base substitution A C intron_variant MELA-AU 1 51267275 51267275 single base substitution C G intron_variant MELA-AU 1 51267498 51267498 single base substitution A C intron_variant MELA-AU 1 51267937 51267937 single base substitution T A intron_variant MELA-AU 1 51268727 51268727 single base substitution C T intron_variant MELA-AU 1 51269241 51269241 deletion of <=200bp A - intron_variant MELA-AU 1 51269635 51269635 single base substitution G A intron_variant MELA-AU 1 51270639 51270639 single base substitution G A intron_variant MELA-AU 1 51271089 51271089 single base substitution G A intron_variant MELA-AU 1 51271206 51271206 single base substitution G A intron_variant MELA-AU 1 51271907 51271907 single base substitution G A intron_variant MELA-AU 1 51271979 51271979 single base substitution C A intron_variant MELA-AU 1 51272038 51272038 single base substitution G C intron_variant MELA-AU 1 51272430 51272430 single base substitution G A intron_variant MELA-AU 1 51272449 51272449 single base substitution C A intron_variant MELA-AU 1 51272453 51272453 single base substitution A T intron_variant MELA-AU 1 51272511 51272511 single base substitution C A intron_variant MELA-AU 1 51272566 51272566 single base substitution G A intron_variant MELA-AU 1 51273384 51273384 single base substitution A G intron_variant MELA-AU 1 51273956 51273956 single base substitution C T intron_variant MELA-AU 1 51274332 51274332 single base substitution A T intron_variant MELA-AU 1 51274948 51274948 single base substitution G A intron_variant MELA-AU 1 51274961 51274961 single base substitution G A intron_variant MELA-AU 1 51274987 51274987 single base substitution G A intron_variant MELA-AU 1 51275428 51275428 single base substitution C A intron_variant MELA-AU 1 51275853 51275853 single base substitution G A intron_variant MELA-AU 1 51276492 51276492 single base substitution G A intron_variant MELA-AU 1 51276783 51276783 single base substitution G A intron_variant MELA-AU 1 51277175 51277175 single base substitution G A intron_variant MELA-AU 1 51277188 51277188 single base substitution C T intron_variant MELA-AU 1 51277221 51277221 single base substitution G A intron_variant MELA-AU 1 51277351 51277351 single base substitution G A intron_variant MELA-AU 1 51278521 51278521 single base substitution A G intron_variant MELA-AU 1 51278678 51278678 single base substitution G A intron_variant MELA-AU 1 51278914 51278914 single base substitution G A intron_variant MELA-AU 1 51279006 51279006 single base substitution G A intron_variant MELA-AU 1 51279325 51279325 single base substitution G A intron_variant MELA-AU 1 51279489 51279489 single base substitution A C intron_variant MELA-AU 1 51279586 51279586 single base substitution G A intron_variant MELA-AU 1 51279844 51279844 single base substitution G A intron_variant MELA-AU 1 51281029 51281029 single base substitution G A intron_variant MELA-AU 1 51281901 51281901 single base substitution G A intron_variant MELA-AU 1 51282146 51282146 single base substitution G A intron_variant MELA-AU 1 51282446 51282446 single base substitution G A intron_variant MELA-AU 1 51282889 51282889 single base substitution G A intron_variant MELA-AU 1 51283097 51283097 single base substitution A T intron_variant MELA-AU 1 51285137 51285137 single base substitution T A intron_variant MELA-AU 1 51285771 51285771 single base substitution G A intron_variant MELA-AU 1 51286520 51286520 insertion of <=200bp - TG intron_variant MELA-AU 1 51287743 51287743 single base substitution C T intron_variant MELA-AU 1 51287750 51287750 single base substitution G A intron_variant MELA-AU 1 51287768 51287768 single base substitution C T intron_variant MELA-AU 1 51287830 51287830 single base substitution G A intron_variant MELA-AU 1 51288540 51288540 single base substitution G C intron_variant MELA-AU 1 51288777 51288777 single base substitution G A intron_variant MELA-AU 1 51289295 51289295 single base substitution C T intron_variant MELA-AU 1 51289366 51289366 single base substitution T A intron_variant MELA-AU 1 51289392 51289392 single base substitution C T intron_variant MELA-AU 1 51289549 51289549 single base substitution G A intron_variant MELA-AU 1 51289569 51289569 single base substitution G A intron_variant MELA-AU 1 51289664 51289664 single base substitution G A intron_variant MELA-AU 1 51290423 51290423 single base substitution G A intron_variant MELA-AU 1 51290661 51290661 single base substitution T A intron_variant MELA-AU 1 51291467 51291467 single base substitution C T intron_variant MELA-AU 1 51291649 51291649 single base substitution G A intron_variant MELA-AU 1 51291837 51291837 single base substitution G A intron_variant MELA-AU 1 51292201 51292201 single base substitution G A intron_variant MELA-AU 1 51292555 51292555 single base substitution G A intron_variant MELA-AU 1 51292559 51292559 single base substitution G C intron_variant MELA-AU 1 51292874 51292874 single base substitution G A intron_variant MELA-AU 1 51293169 51293169 single base substitution G A intron_variant MELA-AU 1 51293190 51293190 single base substitution G A intron_variant MELA-AU 1 51293301 51293301 single base substitution T C intron_variant MELA-AU 1 51293544 51293544 single base substitution G A intron_variant MELA-AU 1 51293548 51293548 single base substitution G A intron_variant MELA-AU 1 51293907 51293907 single base substitution G A intron_variant MELA-AU 1 51293915 51293915 single base substitution G A intron_variant MELA-AU 1 51294034 51294034 single base substitution G A intron_variant MELA-AU 1 51294404 51294404 single base substitution C T intron_variant MELA-AU 1 51294473 51294473 single base substitution G A intron_variant MELA-AU 1 51295838 51295838 single base substitution G A intron_variant MELA-AU 1 51297578 51297578 single base substitution C T intron_variant MELA-AU 1 51297722 51297722 single base substitution G A intron_variant MELA-AU 1 51298017 51298017 single base substitution G A intron_variant MELA-AU 1 51300146 51300146 single base substitution G A intron_variant MELA-AU 1 51300569 51300569 single base substitution C T intron_variant MELA-AU 1 51301157 51301157 single base substitution C T intron_variant MELA-AU 1 51301559 51301559 single base substitution G A intron_variant MELA-AU 1 51302065 51302065 single base substitution G A intron_variant MELA-AU 1 51302191 51302191 single base substitution G A intron_variant MELA-AU 1 51302807 51302807 single base substitution T C intron_variant MELA-AU 1 51303172 51303172 single base substitution G A intron_variant MELA-AU 1 51303381 51303381 single base substitution G A intron_variant MELA-AU 1 51303412 51303412 single base substitution G A intron_variant MELA-AU 1 51303615 51303616 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51304196 51304196 single base substitution T C intron_variant MELA-AU 1 51304640 51304640 single base substitution A G intron_variant MELA-AU 1 51305163 51305163 single base substitution G A intron_variant MELA-AU 1 51305829 51305829 single base substitution C A intron_variant MELA-AU 1 51305845 51305845 single base substitution G A intron_variant MELA-AU 1 51306588 51306588 single base substitution G A intron_variant MELA-AU 1 51306739 51306739 single base substitution G A intron_variant MELA-AU 1 51307156 51307156 single base substitution C T intron_variant MELA-AU 1 51307230 51307230 single base substitution G A intron_variant MELA-AU 1 51308139 51308139 single base substitution T A intron_variant MELA-AU 1 51309008 51309008 single base substitution G A intron_variant MELA-AU 1 51309115 51309115 single base substitution T C intron_variant MELA-AU 1 51309386 51309386 single base substitution C T intron_variant MELA-AU 1 51309759 51309759 single base substitution G A intron_variant MELA-AU 1 51310460 51310460 single base substitution G A intron_variant MELA-AU 1 51310583 51310583 single base substitution G A intron_variant MELA-AU 1 51310950 51310950 single base substitution G A intron_variant MELA-AU 1 51311458 51311458 single base substitution G A intron_variant MELA-AU 1 51311616 51311616 single base substitution G A intron_variant MELA-AU 1 51311800 51311800 single base substitution G A intron_variant MELA-AU 1 51311805 51311805 single base substitution G A intron_variant MELA-AU 1 51312322 51312322 single base substitution G A intron_variant MELA-AU 1 51312480 51312480 single base substitution G A intron_variant MELA-AU 1 51312982 51312982 single base substitution G A intron_variant MELA-AU 1 51313778 51313778 single base substitution G A intron_variant MELA-AU 1 51313989 51313989 single base substitution G A intron_variant MELA-AU 1 51314108 51314108 single base substitution A G intron_variant MELA-AU 1 51314232 51314232 single base substitution G A intron_variant MELA-AU 1 51314749 51314749 single base substitution T A intron_variant MELA-AU 1 51314866 51314866 single base substitution G A intron_variant MELA-AU 1 51315602 51315603 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 1 51315719 51315719 single base substitution A G intron_variant MELA-AU 1 51315853 51315853 single base substitution G A intron_variant MELA-AU 1 51316244 51316244 single base substitution G A intron_variant MELA-AU 1 51316316 51316316 single base substitution T C intron_variant MELA-AU 1 51316499 51316499 single base substitution A C intron_variant MELA-AU 1 51316741 51316741 single base substitution G A intron_variant MELA-AU 1 51317743 51317743 single base substitution G A intron_variant MELA-AU 1 51318563 51318563 single base substitution T G intron_variant MELA-AU 1 51319296 51319296 single base substitution G A intron_variant MELA-AU 1 51319657 51319657 single base substitution G A intron_variant MELA-AU 1 51319901 51319901 single base substitution C T intron_variant MELA-AU 1 51320031 51320031 single base substitution G A intron_variant MELA-AU 1 51320049 51320049 single base substitution G A intron_variant MELA-AU 1 51320108 51320108 single base substitution G A intron_variant MELA-AU 1 51320688 51320688 single base substitution G A intron_variant MELA-AU 1 51320711 51320711 single base substitution G A intron_variant MELA-AU 1 51320826 51320826 single base substitution G A intron_variant MELA-AU 1 51323307 51323307 single base substitution C T intron_variant MELA-AU 1 51324422 51324432 deletion of <=200bp GTTCTTGAAAA - intron_variant MELA-AU 1 51325545 51325545 single base substitution C A intron_variant MELA-AU 1 51326966 51326966 single base substitution G A intron_variant MELA-AU 1 51327184 51327184 single base substitution C A intron_variant MELA-AU 1 51327246 51327246 single base substitution G A intron_variant MELA-AU 1 51328063 51328063 single base substitution G A intron_variant MELA-AU 1 51331609 51331609 single base substitution G A intron_variant MELA-AU 1 51332390 51332390 single base substitution G A intron_variant MELA-AU 1 51333245 51333245 single base substitution G A intron_variant MELA-AU 1 51333759 51333759 single base substitution G A intron_variant MELA-AU 1 51334324 51334324 deletion of <=200bp T - intron_variant MELA-AU 1 51334445 51334445 single base substitution C T intron_variant MELA-AU 1 51335536 51335536 single base substitution G A intron_variant MELA-AU 1 51335712 51335712 single base substitution G A intron_variant MELA-AU 1 51337852 51337852 single base substitution G A intron_variant MELA-AU 1 51338083 51338083 single base substitution G A intron_variant MELA-AU 1 51338572 51338572 single base substitution G A intron_variant MELA-AU 1 51338629 51338629 single base substitution G A intron_variant MELA-AU 1 51339076 51339076 single base substitution G A intron_variant MELA-AU 1 51340575 51340575 single base substitution G A intron_variant MELA-AU 1 51340631 51340631 single base substitution T G intron_variant MELA-AU 1 51340773 51340773 single base substitution G A intron_variant MELA-AU 1 51341625 51341625 single base substitution C T intron_variant MELA-AU 1 51342031 51342031 single base substitution A G intron_variant MELA-AU 1 51342448 51342448 single base substitution G A intron_variant MELA-AU 1 51343471 51343471 single base substitution A T intron_variant MELA-AU 1 51344186 51344186 single base substitution G A intron_variant MELA-AU 1 51344455 51344455 single base substitution C T intron_variant MELA-AU 1 51344663 51344663 single base substitution A T intron_variant MELA-AU 1 51344669 51344669 single base substitution C A intron_variant MELA-AU 1 51344683 51344683 single base substitution C A intron_variant MELA-AU 1 51344757 51344757 single base substitution G A intron_variant MELA-AU 1 51344842 51344842 single base substitution G A intron_variant MELA-AU 1 51344952 51344952 single base substitution G A intron_variant MELA-AU 1 51345009 51345009 single base substitution C T intron_variant MELA-AU 1 51345113 51345113 single base substitution A G intron_variant MELA-AU 1 51345250 51345250 single base substitution G A intron_variant MELA-AU 1 51345396 51345397 deletion of <=200bp AC - intron_variant MELA-AU 1 51345709 51345709 single base substitution T C intron_variant MELA-AU 1 51346093 51346093 single base substitution T C intron_variant MELA-AU 1 51346168 51346168 single base substitution G A intron_variant MELA-AU 1 51346285 51346285 single base substitution G A intron_variant MELA-AU 1 51346388 51346388 single base substitution G A intron_variant MELA-AU 1 51346522 51346522 single base substitution G A intron_variant MELA-AU 1 51347154 51347154 single base substitution A T intron_variant MELA-AU 1 51348273 51348273 insertion of <=200bp - TAAA intron_variant MELA-AU 1 51348450 51348450 single base substitution G A intron_variant MELA-AU 1 51348980 51348980 single base substitution G A intron_variant MELA-AU 1 51349140 51349140 single base substitution G A intron_variant MELA-AU 1 51349142 51349142 single base substitution A G intron_variant MELA-AU 1 51349190 51349190 single base substitution G A intron_variant MELA-AU 1 51349301 51349301 single base substitution C T intron_variant MELA-AU 1 51349428 51349428 single base substitution G A intron_variant MELA-AU 1 51349556 51349556 single base substitution G A intron_variant MELA-AU 1 51350611 51350611 single base substitution G A intron_variant MELA-AU 1 51351071 51351071 single base substitution T G intron_variant MELA-AU 1 51351456 51351456 single base substitution T G intron_variant MELA-AU 1 51353242 51353242 single base substitution G A intron_variant MELA-AU 1 51353303 51353303 single base substitution G A intron_variant MELA-AU 1 51354156 51354157 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51354893 51354893 single base substitution C T intron_variant MELA-AU 1 51355686 51355686 single base substitution G A intron_variant MELA-AU 1 51355776 51355776 single base substitution C T intron_variant MELA-AU 1 51355846 51355846 single base substitution G A intron_variant MELA-AU 1 51355969 51355969 single base substitution G A intron_variant MELA-AU 1 51356326 51356326 single base substitution G A intron_variant MELA-AU 1 51356529 51356529 single base substitution G A intron_variant MELA-AU 1 51356974 51356974 single base substitution G A intron_variant MELA-AU 1 51357212 51357212 single base substitution G A intron_variant MELA-AU 1 51357947 51357947 single base substitution G A intron_variant MELA-AU 1 51358339 51358339 single base substitution C T intron_variant MELA-AU 1 51358857 51358859 multiple base substitution (>=2bp and <=200bp) GGT AAA intron_variant MELA-AU 1 51358916 51358916 single base substitution G A intron_variant MELA-AU 1 51359208 51359208 single base substitution G A intron_variant MELA-AU 1 51359755 51359755 single base substitution G A intron_variant MELA-AU 1 51360139 51360139 single base substitution G A intron_variant MELA-AU 1 51360207 51360207 single base substitution T A intron_variant MELA-AU 1 51360463 51360463 single base substitution G A intron_variant MELA-AU 1 51361147 51361147 single base substitution G A intron_variant MELA-AU 1 51361210 51361210 single base substitution G A intron_variant MELA-AU 1 51361733 51361733 single base substitution G A intron_variant MELA-AU 1 51361853 51361853 single base substitution C T intron_variant MELA-AU 1 51361886 51361886 single base substitution G A intron_variant MELA-AU 1 51361992 51361992 single base substitution G A intron_variant MELA-AU 1 51362102 51362102 single base substitution T C intron_variant MELA-AU 1 51363166 51363166 single base substitution C T intron_variant MELA-AU 1 51363179 51363179 single base substitution G A intron_variant MELA-AU 1 51364051 51364051 single base substitution A G intron_variant MELA-AU 1 51364300 51364300 single base substitution G A intron_variant MELA-AU 1 51366976 51366976 single base substitution G A intron_variant MELA-AU 1 51367350 51367350 single base substitution G A intron_variant MELA-AU 1 51367701 51367701 single base substitution G A intron_variant MELA-AU 1 51369278 51369279 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51369298 51369298 single base substitution A C intron_variant MELA-AU 1 51369310 51369310 single base substitution G A intron_variant MELA-AU 1 51370327 51370327 single base substitution G A intron_variant MELA-AU 1 51370849 51370849 single base substitution G A intron_variant MELA-AU 1 51372231 51372231 single base substitution C G intron_variant MELA-AU 1 51372501 51372501 single base substitution G A intron_variant MELA-AU 1 51372568 51372568 single base substitution G A intron_variant MELA-AU 1 51372641 51372641 single base substitution G A intron_variant MELA-AU 1 51373027 51373027 single base substitution T C intron_variant MELA-AU 1 51373089 51373089 single base substitution C A intron_variant MELA-AU 1 51373817 51373817 single base substitution G A intron_variant MELA-AU 1 51375118 51375118 single base substitution C T intron_variant MELA-AU 1 51375411 51375411 single base substitution G A intron_variant MELA-AU 1 51375616 51375616 single base substitution G A intron_variant MELA-AU 1 51375726 51375726 single base substitution G A intron_variant MELA-AU 1 51375727 51375727 single base substitution G A intron_variant MELA-AU 1 51376329 51376329 single base substitution G A intron_variant MELA-AU 1 51376507 51376507 single base substitution G A intron_variant MELA-AU 1 51376763 51376763 single base substitution G A intron_variant MELA-AU 1 51377097 51377097 single base substitution G A intron_variant MELA-AU 1 51377738 51377738 single base substitution G A intron_variant MELA-AU 1 51378245 51378245 single base substitution C T intron_variant MELA-AU 1 51379227 51379227 single base substitution G A intron_variant MELA-AU 1 51379681 51379681 single base substitution T A intron_variant MELA-AU 1 51379683 51379683 single base substitution A T intron_variant MELA-AU 1 51380520 51380520 single base substitution C T intron_variant MELA-AU 1 51381398 51381398 single base substitution A C intron_variant MELA-AU 1 51383282 51383282 single base substitution G A intron_variant MELA-AU 1 51383311 51383311 single base substitution G A intron_variant MELA-AU 1 51383351 51383351 single base substitution G A intron_variant MELA-AU 1 51383749 51383749 single base substitution G A intron_variant MELA-AU 1 51383750 51383750 single base substitution G A intron_variant MELA-AU 1 51385148 51385148 single base substitution G A intron_variant MELA-AU 1 51386195 51386196 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51386966 51386966 single base substitution A G intron_variant MELA-AU 1 51387348 51387348 single base substitution G A intron_variant MELA-AU 1 51387359 51387359 single base substitution G A intron_variant MELA-AU 1 51388063 51388063 single base substitution G A intron_variant MELA-AU 1 51388388 51388388 single base substitution G A intron_variant MELA-AU 1 51388538 51388538 single base substitution T C intron_variant MELA-AU 1 51389302 51389302 single base substitution G A intron_variant MELA-AU 1 51389568 51389568 single base substitution C T intron_variant MELA-AU 1 51389758 51389758 single base substitution G A intron_variant MELA-AU 1 51390177 51390177 single base substitution C T intron_variant MELA-AU 1 51390657 51390657 single base substitution A G intron_variant MELA-AU 1 51391537 51391537 single base substitution G A intron_variant MELA-AU 1 51391777 51391777 single base substitution T A intron_variant MELA-AU 1 51391836 51391836 single base substitution A G intron_variant MELA-AU 1 51391840 51391840 single base substitution G A intron_variant MELA-AU 1 51391934 51391934 single base substitution G A intron_variant MELA-AU 1 51392157 51392157 single base substitution G A intron_variant MELA-AU 1 51392398 51392398 single base substitution G A intron_variant MELA-AU 1 51392639 51392639 single base substitution G A intron_variant MELA-AU 1 51392806 51392806 single base substitution G A intron_variant MELA-AU 1 51393112 51393112 single base substitution G A intron_variant MELA-AU 1 51393549 51393549 single base substitution C A intron_variant MELA-AU 1 51394007 51394007 single base substitution G A intron_variant MELA-AU 1 51394264 51394264 single base substitution G A intron_variant MELA-AU 1 51394655 51394655 single base substitution G A intron_variant MELA-AU 1 51394800 51394800 single base substitution G A intron_variant MELA-AU 1 51395251 51395251 single base substitution G A intron_variant MELA-AU 1 51395252 51395252 single base substitution G A intron_variant MELA-AU 1 51397529 51397529 single base substitution G A intron_variant MELA-AU 1 51397672 51397672 single base substitution G A intron_variant MELA-AU 1 51398861 51398861 single base substitution T C intron_variant MELA-AU 1 51399492 51399492 single base substitution G A intron_variant MELA-AU 1 51399519 51399519 single base substitution G A intron_variant MELA-AU 1 51399644 51399644 single base substitution G A intron_variant MELA-AU 1 51400033 51400033 single base substitution G A intron_variant MELA-AU 1 51400186 51400186 single base substitution G A intron_variant MELA-AU 1 51401206 51401206 single base substitution G A intron_variant MELA-AU 1 51401838 51401838 single base substitution G A intron_variant MELA-AU 1 51402488 51402488 single base substitution G A intron_variant MELA-AU 1 51402661 51402661 single base substitution A G intron_variant MELA-AU 1 51402777 51402777 single base substitution G A intron_variant MELA-AU 1 51403113 51403113 single base substitution G A intron_variant MELA-AU 1 51403228 51403228 single base substitution G A intron_variant MELA-AU 1 51403242 51403242 single base substitution G A intron_variant MELA-AU 1 51403402 51403402 single base substitution A C intron_variant MELA-AU 1 51403419 51403419 single base substitution G A intron_variant MELA-AU 1 51403525 51403525 single base substitution G A intron_variant MELA-AU 1 51403704 51403704 single base substitution G A intron_variant MELA-AU 1 51403753 51403753 single base substitution G A intron_variant MELA-AU 1 51403899 51403899 single base substitution G A intron_variant MELA-AU 1 51404300 51404300 single base substitution G A intron_variant MELA-AU 1 51404365 51404365 single base substitution G A intron_variant MELA-AU 1 51404462 51404462 single base substitution C G intron_variant MELA-AU 1 51404982 51404982 single base substitution C T intron_variant MELA-AU 1 51405716 51405716 single base substitution G A intron_variant MELA-AU 1 51405836 51405836 single base substitution G A intron_variant MELA-AU 1 51405867 51405868 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 1 51405886 51405886 single base substitution C T intron_variant MELA-AU 1 51406568 51406568 single base substitution C T intron_variant MELA-AU 1 51407468 51407469 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51407786 51407786 single base substitution G A intron_variant MELA-AU 1 51408140 51408140 single base substitution G A intron_variant MELA-AU 1 51408144 51408144 single base substitution G A intron_variant MELA-AU 1 51408619 51408619 single base substitution C T intron_variant MELA-AU 1 51408632 51408632 single base substitution A G intron_variant MELA-AU 1 51408821 51408821 single base substitution C A intron_variant MELA-AU 1 51409056 51409056 single base substitution G A intron_variant MELA-AU 1 51409070 51409070 single base substitution G A intron_variant MELA-AU 1 51409296 51409296 single base substitution C A intron_variant MELA-AU 1 51409425 51409425 single base substitution T C intron_variant MELA-AU 1 51410490 51410490 single base substitution G A intron_variant MELA-AU 1 51411680 51411680 single base substitution A T intron_variant MELA-AU 1 51411737 51411737 single base substitution C T intron_variant MELA-AU 1 51414254 51414254 single base substitution G A intron_variant MELA-AU 1 51414587 51414587 single base substitution G A intron_variant MELA-AU 1 51415959 51415959 single base substitution C T intron_variant MELA-AU 1 51416165 51416165 single base substitution A T intron_variant MELA-AU 1 51416179 51416179 single base substitution A T intron_variant MELA-AU 1 51416270 51416270 single base substitution G A intron_variant MELA-AU 1 51416607 51416607 single base substitution A T intron_variant MELA-AU 1 51416662 51416662 single base substitution G A intron_variant MELA-AU 1 51416679 51416679 single base substitution G A intron_variant MELA-AU 1 51416889 51416889 single base substitution G A intron_variant MELA-AU 1 51418485 51418485 single base substitution G A intron_variant MELA-AU 1 51419429 51419429 single base substitution G A intron_variant MELA-AU 1 51420124 51420124 single base substitution G A intron_variant MELA-AU 1 51420576 51420576 single base substitution G A intron_variant MELA-AU 1 51422635 51422635 single base substitution A G intron_variant MELA-AU 1 51423324 51423324 single base substitution G A intron_variant MELA-AU 1 51423500 51423500 single base substitution T C intron_variant MELA-AU 1 51424080 51424080 single base substitution T A intron_variant MELA-AU 1 51424730 51424730 single base substitution T A intron_variant MELA-AU 1 51424858 51424858 single base substitution G A intron_variant MELA-AU 1 51425530 51425530 single base substitution G T 5_prime_UTR_variant MELA-AU 1 51425530 51425530 single base substitution G T splice_region_variant MELA-AU 1 51425530 51425530 single base substitution G T upstream_gene_variant MELA-AU 1 51425910 51425910 single base substitution C T 5_prime_UTR_variant MELA-AU 1 51425910 51425910 single base substitution C T upstream_gene_variant MELA-AU 1 51426478 51426478 single base substitution A G upstream_gene_variant MELA-AU 1 51426584 51426585 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 51426905 51426905 single base substitution T A upstream_gene_variant MELA-AU 1 51427686 51427686 single base substitution C T upstream_gene_variant MELA-AU 1 51427769 51427769 single base substitution C T upstream_gene_variant MELA-AU 1 51427817 51427817 single base substitution C T upstream_gene_variant MELA-AU 1 51427825 51427826 multiple base substitution (>=2bp and <=200bp) GG TT upstream_gene_variant MELA-AU 1 51428318 51428318 single base substitution C T upstream_gene_variant MELA-AU 1 51428634 51428634 single base substitution C T upstream_gene_variant MELA-AU 1 51429647 51429647 single base substitution C T upstream_gene_variant MELA-AU 1 51429962 51429962 single base substitution G A upstream_gene_variant MELA-AU 1 51430171 51430171 single base substitution C T upstream_gene_variant MELA-AU 1 51430174 51430174 single base substitution C T upstream_gene_variant MELA-AU 1 51430322 51430322 single base substitution C T upstream_gene_variant MELA-AU 1 51430647 51430647 single base substitution C T upstream_gene_variant MELA-AU 1 51430864 51430864 single base substitution C T upstream_gene_variant ORCA-IN 1 50936809 50936809 single base substitution T C intron_variant ORCA-IN 1 50938042 50938042 single base substitution C A intron_variant ORCA-IN 1 50990631 50990631 single base substitution C T intron_variant ORCA-IN 1 51005298 51005298 single base substitution C T exon_variant ORCA-IN 1 51005298 51005298 single base substitution C T synonymous_variant K215K 645G>A ORCA-IN 1 51005298 51005298 single base substitution C T synonymous_variant K457K 1371G>A ORCA-IN 1 51011090 51011090 single base substitution G A intron_variant ORCA-IN 1 51056030 51056030 single base substitution C T intron_variant ORCA-IN 1 51067553 51067553 single base substitution T G intron_variant ORCA-IN 1 51090062 51090062 single base substitution G T intron_variant ORCA-IN 1 51103345 51103346 deletion of <=200bp AT - intron_variant ORCA-IN 1 51106805 51106805 single base substitution A G intron_variant ORCA-IN 1 51107964 51107964 insertion of <=200bp - AT intron_variant ORCA-IN 1 51112717 51112717 single base substitution C T intron_variant ORCA-IN 1 51150945 51150945 single base substitution G C intron_variant ORCA-IN 1 51166620 51166620 single base substitution C A downstream_gene_variant ORCA-IN 1 51166620 51166620 single base substitution C A intron_variant ORCA-IN 1 51175173 51175174 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant ORCA-IN 1 51175173 51175174 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant ORCA-IN 1 51189066 51189066 insertion of <=200bp - C intron_variant ORCA-IN 1 51204581 51204581 single base substitution C A exon_variant ORCA-IN 1 51204581 51204581 single base substitution C A missense_variant V169F 505G>T ORCA-IN 1 51205204 51205204 single base substitution G A intron_variant ORCA-IN 1 51209254 51209254 single base substitution C A intron_variant ORCA-IN 1 51210162 51210162 single base substitution T G intron_variant ORCA-IN 1 51218167 51218167 single base substitution T A intron_variant ORCA-IN 1 51229043 51229043 single base substitution G T intron_variant ORCA-IN 1 51230939 51230939 single base substitution A T intron_variant ORCA-IN 1 51263462 51263462 single base substitution G C intron_variant ORCA-IN 1 51286024 51286024 single base substitution G A intron_variant ORCA-IN 1 51286574 51286574 single base substitution G C intron_variant ORCA-IN 1 51364655 51364655 single base substitution C T intron_variant ORCA-IN 1 51421322 51421322 single base substitution G C intron_variant ORCA-IN 1 51426989 51426989 single base substitution C T upstream_gene_variant OV-AU 1 50904240 50904240 single base substitution A C downstream_gene_variant OV-AU 1 50906777 50906777 single base substitution T G 3_prime_UTR_variant OV-AU 1 50906777 50906777 single base substitution T G downstream_gene_variant OV-AU 1 50917511 50917511 single base substitution G C 3_prime_UTR_variant OV-AU 1 50917511 50917511 single base substitution G C intron_variant OV-AU 1 50921499 50921499 single base substitution A C intron_variant OV-AU 1 50923423 50923423 single base substitution A G intron_variant OV-AU 1 50927409 50927409 single base substitution A T intron_variant OV-AU 1 50929599 50929599 single base substitution G A intron_variant OV-AU 1 50931015 50931015 single base substitution G C intron_variant OV-AU 1 50934474 50934474 single base substitution G A intron_variant OV-AU 1 50934614 50934614 single base substitution A G intron_variant OV-AU 1 50935341 50935341 single base substitution T C intron_variant OV-AU 1 50947838 50947838 single base substitution T A intron_variant OV-AU 1 50952766 50952766 single base substitution T C intron_variant OV-AU 1 50957203 50957203 single base substitution G C intron_variant OV-AU 1 50957564 50957564 single base substitution C T intron_variant OV-AU 1 50958557 50958557 single base substitution C T intron_variant OV-AU 1 50962294 50962294 single base substitution G A intron_variant OV-AU 1 50963438 50963438 single base substitution T A intron_variant OV-AU 1 50963651 50963651 single base substitution G A intron_variant OV-AU 1 50973666 50973666 single base substitution T A intron_variant OV-AU 1 50974289 50974289 single base substitution G C intron_variant OV-AU 1 50990215 50990215 single base substitution T A intron_variant OV-AU 1 50999663 50999663 single base substitution T G intron_variant OV-AU 1 50999676 50999676 single base substitution C G intron_variant OV-AU 1 51005375 51005375 single base substitution A T exon_variant OV-AU 1 51005375 51005375 single base substitution A T missense_variant F190I 568T>A OV-AU 1 51005375 51005375 single base substitution A T missense_variant F432I 1294T>A OV-AU 1 51007017 51007017 single base substitution C G intron_variant OV-AU 1 51017388 51017388 single base substitution T C intron_variant OV-AU 1 51018116 51018116 single base substitution G A intron_variant OV-AU 1 51019975 51019975 single base substitution A T intron_variant OV-AU 1 51020795 51020795 single base substitution T G intron_variant OV-AU 1 51023381 51023381 single base substitution G T intron_variant OV-AU 1 51026721 51026721 single base substitution C G intron_variant OV-AU 1 51026924 51026924 single base substitution G A intron_variant OV-AU 1 51040410 51040410 single base substitution G A intron_variant OV-AU 1 51049605 51049605 single base substitution T G intron_variant OV-AU 1 51052715 51052715 single base substitution G C intron_variant OV-AU 1 51059003 51059003 single base substitution G C intron_variant OV-AU 1 51060246 51060246 single base substitution C A intron_variant OV-AU 1 51062563 51062563 single base substitution C A intron_variant OV-AU 1 51064043 51064043 single base substitution A G intron_variant OV-AU 1 51066645 51066645 single base substitution G C intron_variant OV-AU 1 51067380 51067380 single base substitution C T intron_variant OV-AU 1 51069567 51069567 single base substitution C T intron_variant OV-AU 1 51070950 51070950 single base substitution C A intron_variant OV-AU 1 51071411 51071411 single base substitution G T intron_variant OV-AU 1 51071599 51071599 single base substitution G C intron_variant OV-AU 1 51078682 51078682 single base substitution T C intron_variant OV-AU 1 51078682 51078682 single base substitution T C upstream_gene_variant OV-AU 1 51091775 51091775 single base substitution C T intron_variant OV-AU 1 51094965 51094965 single base substitution C A intron_variant OV-AU 1 51095046 51095046 single base substitution G C intron_variant OV-AU 1 51101590 51101590 single base substitution A C intron_variant OV-AU 1 51111507 51111507 single base substitution A G intron_variant OV-AU 1 51114098 51114098 single base substitution C G intron_variant OV-AU 1 51115713 51115713 single base substitution C A intron_variant OV-AU 1 51125443 51125443 single base substitution G A intron_variant OV-AU 1 51131070 51131070 single base substitution T C intron_variant OV-AU 1 51131226 51131226 single base substitution T G intron_variant OV-AU 1 51133465 51133465 single base substitution A G intron_variant OV-AU 1 51134754 51134754 single base substitution G A intron_variant OV-AU 1 51134765 51134765 single base substitution C T intron_variant OV-AU 1 51136052 51136052 single base substitution G A intron_variant OV-AU 1 51139679 51139679 single base substitution G A intron_variant OV-AU 1 51142681 51142681 single base substitution G T intron_variant OV-AU 1 51148499 51148499 single base substitution C T intron_variant OV-AU 1 51151186 51151186 single base substitution C T intron_variant OV-AU 1 51152442 51152442 single base substitution T A intron_variant OV-AU 1 51163797 51163797 single base substitution C A intron_variant OV-AU 1 51168643 51168643 single base substitution A C downstream_gene_variant OV-AU 1 51168643 51168643 single base substitution A C intron_variant OV-AU 1 51170265 51170265 single base substitution G T downstream_gene_variant OV-AU 1 51170265 51170265 single base substitution G T intron_variant OV-AU 1 51172607 51172607 single base substitution G T intron_variant OV-AU 1 51172607 51172607 single base substitution G T upstream_gene_variant OV-AU 1 51173419 51173419 single base substitution A G intron_variant OV-AU 1 51173419 51173419 single base substitution A G upstream_gene_variant OV-AU 1 51189974 51189974 single base substitution C T intron_variant OV-AU 1 51191879 51191879 single base substitution G C intron_variant OV-AU 1 51196667 51196667 single base substitution C A intron_variant OV-AU 1 51199882 51199882 single base substitution C A intron_variant OV-AU 1 51200545 51200545 single base substitution T G intron_variant OV-AU 1 51204946 51204946 single base substitution G A intron_variant OV-AU 1 51204950 51204950 single base substitution A G intron_variant OV-AU 1 51205046 51205046 single base substitution A G intron_variant OV-AU 1 51210526 51210526 single base substitution A G intron_variant OV-AU 1 51212838 51212838 single base substitution A C intron_variant OV-AU 1 51214436 51214436 single base substitution A G intron_variant OV-AU 1 51220343 51220343 single base substitution G A intron_variant OV-AU 1 51221188 51221188 single base substitution G A intron_variant OV-AU 1 51235446 51235446 single base substitution G C intron_variant OV-AU 1 51236055 51236055 single base substitution G C intron_variant OV-AU 1 51254061 51254061 single base substitution T C intron_variant OV-AU 1 51256710 51256710 single base substitution A T intron_variant OV-AU 1 51262509 51262509 single base substitution T C intron_variant OV-AU 1 51264545 51264545 single base substitution A C intron_variant OV-AU 1 51267379 51267379 single base substitution A C intron_variant OV-AU 1 51269036 51269036 single base substitution T A intron_variant OV-AU 1 51279036 51279036 single base substitution A G intron_variant OV-AU 1 51282291 51282291 single base substitution C T intron_variant OV-AU 1 51284219 51284219 single base substitution C G intron_variant OV-AU 1 51285137 51285137 single base substitution T A intron_variant OV-AU 1 51292716 51292716 single base substitution G T intron_variant OV-AU 1 51293460 51293460 single base substitution C A intron_variant OV-AU 1 51294361 51294361 single base substitution A G intron_variant OV-AU 1 51297162 51297162 single base substitution A G intron_variant OV-AU 1 51302153 51302153 single base substitution A T intron_variant OV-AU 1 51308152 51308152 single base substitution A T intron_variant OV-AU 1 51312425 51312425 single base substitution C A intron_variant OV-AU 1 51317973 51317973 single base substitution A G intron_variant OV-AU 1 51321310 51321310 single base substitution A G intron_variant OV-AU 1 51322343 51322343 single base substitution G A intron_variant OV-AU 1 51328239 51328239 single base substitution G A intron_variant OV-AU 1 51333744 51333744 single base substitution C G intron_variant OV-AU 1 51355746 51355746 single base substitution G A intron_variant OV-AU 1 51362135 51362135 single base substitution G A intron_variant OV-AU 1 51364613 51364613 single base substitution C G intron_variant OV-AU 1 51368856 51368856 single base substitution C T intron_variant OV-AU 1 51370665 51370665 single base substitution C T intron_variant OV-AU 1 51370955 51370955 single base substitution T A intron_variant OV-AU 1 51373875 51373875 single base substitution G C intron_variant OV-AU 1 51380795 51380795 single base substitution C A intron_variant OV-AU 1 51386995 51386995 single base substitution G A intron_variant OV-AU 1 51389989 51389989 single base substitution A G intron_variant OV-AU 1 51395401 51395401 single base substitution G C intron_variant OV-AU 1 51414178 51414178 single base substitution G C intron_variant OV-AU 1 51418425 51418425 single base substitution G A intron_variant OV-AU 1 51426787 51426787 single base substitution G A upstream_gene_variant OV-US 1 50941337 50941337 single base substitution G C exon_variant OV-US 1 50941337 50941337 single base substitution G C synonymous_variant S314S 942C>G OV-US 1 50941337 50941337 single base substitution G C synonymous_variant S556S 1668C>G PACA-AU 1 50900680 50900680 single base substitution C T downstream_gene_variant PACA-AU 1 50901953 50901953 single base substitution A T downstream_gene_variant PACA-AU 1 50905740 50905740 single base substitution C T 3_prime_UTR_variant PACA-AU 1 50905740 50905740 single base substitution C T downstream_gene_variant PACA-AU 1 50910008 50910008 single base substitution A G intron_variant PACA-AU 1 50913436 50913437 deletion of <=200bp AG - intron_variant PACA-AU 1 50916294 50916294 single base substitution A T intron_variant PACA-AU 1 50917885 50917885 single base substitution G A intron_variant PACA-AU 1 50917908 50917908 single base substitution T C intron_variant PACA-AU 1 50921583 50921583 deletion of <=200bp A - intron_variant PACA-AU 1 50921759 50921759 single base substitution A T intron_variant PACA-AU 1 50924648 50924648 single base substitution T C intron_variant PACA-AU 1 50926275 50926275 single base substitution G A intron_variant PACA-AU 1 50927233 50927233 single base substitution T C intron_variant PACA-AU 1 50927754 50927754 single base substitution T C intron_variant PACA-AU 1 50927923 50927923 single base substitution C T intron_variant PACA-AU 1 50933487 50933490 deletion of <=200bp TGAG - intron_variant PACA-AU 1 50936538 50936538 single base substitution A C intron_variant PACA-AU 1 50951532 50951533 deletion of <=200bp GA - intron_variant PACA-AU 1 50951938 50951938 insertion of <=200bp - TAGCT intron_variant PACA-AU 1 50956285 50956285 single base substitution C T exon_variant PACA-AU 1 50956285 50956285 single base substitution C T missense_variant R301H 902G>A PACA-AU 1 50956285 50956285 single base substitution C T missense_variant R543H 1628G>A PACA-AU 1 50957854 50957854 single base substitution C A intron_variant PACA-AU 1 50963308 50963308 deletion of <=200bp C - intron_variant PACA-AU 1 50964413 50964413 single base substitution T C intron_variant PACA-AU 1 50969284 50969284 single base substitution C G intron_variant PACA-AU 1 50980587 50980587 insertion of <=200bp - T intron_variant PACA-AU 1 50982226 50982226 single base substitution G T intron_variant PACA-AU 1 50982458 50982458 single base substitution T A intron_variant PACA-AU 1 50982725 50982725 single base substitution G T intron_variant PACA-AU 1 50985375 50985375 single base substitution C A intron_variant PACA-AU 1 50986928 50986928 single base substitution C A intron_variant PACA-AU 1 51009605 51009605 single base substitution G A intron_variant PACA-AU 1 51010949 51010949 insertion of <=200bp - AT intron_variant PACA-AU 1 51011198 51011198 single base substitution C A intron_variant PACA-AU 1 51014350 51014350 single base substitution C A intron_variant PACA-AU 1 51014569 51014569 single base substitution T A intron_variant PACA-AU 1 51014855 51014855 single base substitution A G intron_variant PACA-AU 1 51020066 51020066 single base substitution G T intron_variant PACA-AU 1 51037897 51037897 single base substitution T G intron_variant PACA-AU 1 51040740 51040740 single base substitution C T intron_variant PACA-AU 1 51043209 51043209 single base substitution A G intron_variant PACA-AU 1 51043738 51043740 deletion of <=200bp TGA - intron_variant PACA-AU 1 51048372 51048372 single base substitution C G splice_acceptor_variant PACA-AU 1 51049132 51049132 single base substitution C G intron_variant PACA-AU 1 51052350 51052350 single base substitution C T intron_variant PACA-AU 1 51054270 51054271 deletion of <=200bp GT - intron_variant PACA-AU 1 51059514 51059514 single base substitution C T intron_variant PACA-AU 1 51062818 51062818 single base substitution T G intron_variant PACA-AU 1 51062889 51062889 single base substitution G A intron_variant PACA-AU 1 51065951 51065951 single base substitution A G intron_variant PACA-AU 1 51068493 51068493 insertion of <=200bp - AT intron_variant PACA-AU 1 51068978 51068978 single base substitution A T intron_variant PACA-AU 1 51082888 51082888 single base substitution C G intron_variant PACA-AU 1 51082888 51082888 single base substitution C G upstream_gene_variant PACA-AU 1 51083497 51083497 single base substitution C T intron_variant PACA-AU 1 51085421 51085421 single base substitution A C intron_variant PACA-AU 1 51085581 51085581 single base substitution C T intron_variant PACA-AU 1 51085584 51085584 single base substitution T C intron_variant PACA-AU 1 51085585 51085585 single base substitution T C intron_variant PACA-AU 1 51085867 51085867 single base substitution C A intron_variant PACA-AU 1 51086917 51086917 single base substitution G A intron_variant PACA-AU 1 51087908 51087908 single base substitution G T intron_variant PACA-AU 1 51093292 51093292 single base substitution G A intron_variant PACA-AU 1 51093518 51093518 single base substitution A T intron_variant PACA-AU 1 51095716 51095716 single base substitution G A intron_variant PACA-AU 1 51095735 51095735 single base substitution A G intron_variant PACA-AU 1 51097197 51097197 single base substitution A G intron_variant PACA-AU 1 51099559 51099559 single base substitution A G intron_variant PACA-AU 1 51104283 51104283 deletion of <=200bp T - intron_variant PACA-AU 1 51106251 51106251 single base substitution A T intron_variant PACA-AU 1 51114292 51114292 single base substitution A G intron_variant PACA-AU 1 51117403 51117403 single base substitution A G intron_variant PACA-AU 1 51120291 51120291 single base substitution A G intron_variant PACA-AU 1 51128819 51128819 single base substitution A G intron_variant PACA-AU 1 51137700 51137700 single base substitution T A intron_variant PACA-AU 1 51141543 51141543 single base substitution A G intron_variant PACA-AU 1 51142351 51142351 single base substitution G A intron_variant PACA-AU 1 51143109 51143109 single base substitution T C intron_variant PACA-AU 1 51143117 51143117 single base substitution A C intron_variant PACA-AU 1 51149505 51149505 single base substitution G A intron_variant PACA-AU 1 51151784 51151784 single base substitution G A intron_variant PACA-AU 1 51152363 51152363 single base substitution T C intron_variant PACA-AU 1 51158126 51158126 single base substitution G A intron_variant PACA-AU 1 51158945 51158945 single base substitution C G intron_variant PACA-AU 1 51159821 51159844 deletion of <=200bp TAGGATATGAGGAATAAGGGAAAC - intron_variant PACA-AU 1 51160105 51160105 single base substitution A T intron_variant PACA-AU 1 51163818 51163818 insertion of <=200bp - TG intron_variant PACA-AU 1 51167794 51167794 single base substitution G T downstream_gene_variant PACA-AU 1 51167794 51167794 single base substitution G T intron_variant PACA-AU 1 51169861 51169861 single base substitution G A downstream_gene_variant PACA-AU 1 51169861 51169861 single base substitution G A intron_variant PACA-AU 1 51176209 51176209 single base substitution C T intron_variant PACA-AU 1 51176209 51176209 single base substitution C T upstream_gene_variant PACA-AU 1 51183416 51183416 single base substitution G A intron_variant PACA-AU 1 51183660 51183660 insertion of <=200bp - TTTA intron_variant PACA-AU 1 51183660 51183660 insertion of <=200bp - TTTATTTA intron_variant PACA-AU 1 51183660 51183667 deletion of <=200bp TTTATTTA - intron_variant PACA-AU 1 51186333 51186333 single base substitution G A intron_variant PACA-AU 1 51194419 51194419 single base substitution C T intron_variant PACA-AU 1 51199753 51199753 single base substitution G A intron_variant PACA-AU 1 51200226 51200226 single base substitution G A intron_variant PACA-AU 1 51201234 51201234 single base substitution C A intron_variant PACA-AU 1 51202418 51202418 single base substitution C T intron_variant PACA-AU 1 51202419 51202419 single base substitution G A intron_variant PACA-AU 1 51205010 51205010 single base substitution A G intron_variant PACA-AU 1 51205014 51205014 single base substitution G A intron_variant PACA-AU 1 51205046 51205046 single base substitution A G intron_variant PACA-AU 1 51209876 51209876 single base substitution C G intron_variant PACA-AU 1 51225984 51225984 single base substitution G C intron_variant PACA-AU 1 51234738 51234738 insertion of <=200bp - AG intron_variant PACA-AU 1 51236776 51236776 single base substitution A T intron_variant PACA-AU 1 51248434 51248434 deletion of <=200bp T - intron_variant PACA-AU 1 51258191 51258191 single base substitution C T intron_variant PACA-AU 1 51263537 51263537 single base substitution C T intron_variant PACA-AU 1 51264044 51264044 single base substitution A G intron_variant PACA-AU 1 51266335 51266335 single base substitution A C intron_variant PACA-AU 1 51277259 51277259 single base substitution A T intron_variant PACA-AU 1 51278439 51278439 single base substitution C T intron_variant PACA-AU 1 51281719 51281719 single base substitution T A intron_variant PACA-AU 1 51286887 51286887 single base substitution C G intron_variant PACA-AU 1 51287010 51287010 deletion of <=200bp T - intron_variant PACA-AU 1 51288416 51288416 insertion of <=200bp - TTTT intron_variant PACA-AU 1 51288562 51288562 single base substitution T G intron_variant PACA-AU 1 51289915 51289915 single base substitution T C intron_variant PACA-AU 1 51296957 51296957 single base substitution G A intron_variant PACA-AU 1 51302693 51302693 single base substitution G A intron_variant PACA-AU 1 51307503 51307503 single base substitution A G intron_variant PACA-AU 1 51336086 51336086 single base substitution G A intron_variant PACA-AU 1 51337751 51337751 single base substitution A G intron_variant PACA-AU 1 51354313 51354313 single base substitution G C intron_variant PACA-AU 1 51362744 51362744 deletion of <=200bp A - intron_variant PACA-AU 1 51363676 51363676 single base substitution T C intron_variant PACA-AU 1 51365519 51365519 single base substitution C T intron_variant PACA-AU 1 51373165 51373165 single base substitution G C intron_variant PACA-AU 1 51373843 51373843 single base substitution G C intron_variant PACA-AU 1 51375937 51375937 single base substitution C T intron_variant PACA-AU 1 51391358 51391358 single base substitution C A intron_variant PACA-AU 1 51392816 51392816 single base substitution A T intron_variant PACA-AU 1 51396429 51396429 single base substitution C G intron_variant PACA-AU 1 51398180 51398180 single base substitution G A intron_variant PACA-AU 1 51401420 51401420 single base substitution G A intron_variant PACA-AU 1 51409239 51409239 single base substitution T C intron_variant PACA-AU 1 51410986 51410986 single base substitution A C intron_variant PACA-AU 1 51411979 51411979 single base substitution A C intron_variant PACA-AU 1 51415680 51415680 single base substitution A T intron_variant PACA-AU 1 51420865 51420865 single base substitution G A intron_variant PACA-AU 1 51421867 51421867 single base substitution G A intron_variant PACA-AU 1 51425995 51425995 single base substitution C T upstream_gene_variant PACA-AU 1 51428352 51428352 single base substitution A G upstream_gene_variant PACA-CA 1 50900173 50900173 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 50900340 50900340 single base substitution T A downstream_gene_variant PACA-CA 1 50904140 50904140 single base substitution G A downstream_gene_variant PACA-CA 1 50916024 50916024 single base substitution G T intron_variant PACA-CA 1 50918376 50918376 single base substitution T G intron_variant PACA-CA 1 50918801 50918801 single base substitution C T intron_variant PACA-CA 1 50921515 50921515 single base substitution C A intron_variant PACA-CA 1 50925969 50925969 single base substitution T C intron_variant PACA-CA 1 50925987 50925987 single base substitution C G intron_variant PACA-CA 1 50930478 50930478 single base substitution T C intron_variant PACA-CA 1 50935114 50935114 single base substitution G C intron_variant PACA-CA 1 50935339 50935339 single base substitution C T intron_variant PACA-CA 1 50939026 50939026 single base substitution A T intron_variant PACA-CA 1 50949186 50949186 single base substitution C A intron_variant PACA-CA 1 50950806 50950806 single base substitution T A intron_variant PACA-CA 1 50951357 50951357 single base substitution A C intron_variant PACA-CA 1 50951652 50951652 single base substitution G C intron_variant PACA-CA 1 50959726 50959726 single base substitution T C intron_variant PACA-CA 1 50963669 50963669 single base substitution C G intron_variant PACA-CA 1 50967661 50967661 single base substitution A C intron_variant PACA-CA 1 50968122 50968122 single base substitution T A intron_variant PACA-CA 1 50975448 50975448 single base substitution G C intron_variant PACA-CA 1 50975706 50975706 single base substitution C T intron_variant PACA-CA 1 50976258 50976258 single base substitution G C intron_variant PACA-CA 1 50979928 50979928 single base substitution T A intron_variant PACA-CA 1 50980540 50980540 single base substitution G C intron_variant PACA-CA 1 50981356 50981356 single base substitution C T intron_variant PACA-CA 1 50982915 50982915 single base substitution C T intron_variant PACA-CA 1 50984234 50984234 single base substitution T C intron_variant PACA-CA 1 50984770 50984770 single base substitution G A intron_variant PACA-CA 1 50985845 50985845 single base substitution A G intron_variant PACA-CA 1 50986449 50986449 single base substitution C T intron_variant PACA-CA 1 50990677 50990677 single base substitution C T intron_variant PACA-CA 1 50992041 50992041 single base substitution G T intron_variant PACA-CA 1 50995973 50995974 deletion of <=200bp GT - intron_variant PACA-CA 1 50997087 50997087 deletion of <=200bp A - intron_variant PACA-CA 1 50999645 50999645 single base substitution T C intron_variant PACA-CA 1 51001174 51001174 single base substitution T A downstream_gene_variant PACA-CA 1 51001174 51001174 single base substitution T A intron_variant PACA-CA 1 51002351 51002351 single base substitution G A downstream_gene_variant PACA-CA 1 51002351 51002351 single base substitution G A intron_variant PACA-CA 1 51003622 51003622 single base substitution A C downstream_gene_variant PACA-CA 1 51003622 51003622 single base substitution A C intron_variant PACA-CA 1 51014897 51014897 single base substitution C A intron_variant PACA-CA 1 51018336 51018336 single base substitution C T intron_variant PACA-CA 1 51019233 51019233 single base substitution C T intron_variant PACA-CA 1 51019303 51019303 single base substitution A G intron_variant PACA-CA 1 51021445 51021445 deletion of <=200bp A - intron_variant PACA-CA 1 51023095 51023095 single base substitution G C intron_variant PACA-CA 1 51024318 51024318 single base substitution G A intron_variant PACA-CA 1 51028239 51028239 single base substitution T C intron_variant PACA-CA 1 51031090 51031090 single base substitution T A intron_variant PACA-CA 1 51038952 51038952 single base substitution G C intron_variant PACA-CA 1 51040413 51040413 single base substitution T A intron_variant PACA-CA 1 51043564 51043564 single base substitution G C intron_variant PACA-CA 1 51047716 51047716 single base substitution G T intron_variant PACA-CA 1 51049279 51049279 single base substitution G C intron_variant PACA-CA 1 51050057 51050057 single base substitution C A intron_variant PACA-CA 1 51051740 51051740 single base substitution A C intron_variant PACA-CA 1 51053537 51053537 single base substitution A G intron_variant PACA-CA 1 51059627 51059627 insertion of <=200bp - A intron_variant PACA-CA 1 51061275 51061275 single base substitution C T intron_variant PACA-CA 1 51067650 51067650 single base substitution G A intron_variant PACA-CA 1 51071148 51071148 single base substitution C T intron_variant PACA-CA 1 51073127 51073127 single base substitution C T intron_variant PACA-CA 1 51073127 51073127 single base substitution C T upstream_gene_variant PACA-CA 1 51076373 51076373 insertion of <=200bp - T intron_variant PACA-CA 1 51076373 51076373 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 51078018 51078018 single base substitution C A intron_variant PACA-CA 1 51078018 51078018 single base substitution C A start_lost M1I 3G>T PACA-CA 1 51078089 51078089 single base substitution G A 5_prime_UTR_variant PACA-CA 1 51078089 51078089 single base substitution G A intron_variant PACA-CA 1 51087850 51087850 single base substitution T G intron_variant PACA-CA 1 51090731 51090731 single base substitution G A intron_variant PACA-CA 1 51092545 51092545 single base substitution G A intron_variant PACA-CA 1 51099022 51099025 deletion of <=200bp TAAT - intron_variant PACA-CA 1 51100207 51100207 single base substitution T G intron_variant PACA-CA 1 51101782 51101782 single base substitution G A intron_variant PACA-CA 1 51114612 51114612 single base substitution C G intron_variant PACA-CA 1 51115770 51115770 single base substitution A G intron_variant PACA-CA 1 51117033 51117033 single base substitution A G intron_variant PACA-CA 1 51120790 51120790 single base substitution C T intron_variant PACA-CA 1 51122103 51122103 single base substitution A C intron_variant PACA-CA 1 51123055 51123055 single base substitution C T intron_variant PACA-CA 1 51123450 51123450 single base substitution C G intron_variant PACA-CA 1 51127383 51127383 single base substitution A C intron_variant PACA-CA 1 51128528 51128528 single base substitution G A intron_variant PACA-CA 1 51131784 51131784 single base substitution T C intron_variant PACA-CA 1 51137850 51137850 single base substitution G A intron_variant PACA-CA 1 51139768 51139768 single base substitution G A intron_variant PACA-CA 1 51146869 51146869 single base substitution C T intron_variant PACA-CA 1 51149067 51149067 single base substitution C T intron_variant PACA-CA 1 51155021 51155021 single base substitution C A intron_variant PACA-CA 1 51156540 51156540 single base substitution G T intron_variant PACA-CA 1 51158167 51158167 single base substitution T C intron_variant PACA-CA 1 51159504 51159504 single base substitution A C intron_variant PACA-CA 1 51164254 51164254 single base substitution T G intron_variant PACA-CA 1 51166024 51166024 single base substitution G A intron_variant PACA-CA 1 51167074 51167074 insertion of <=200bp - A downstream_gene_variant PACA-CA 1 51167074 51167074 insertion of <=200bp - A intron_variant PACA-CA 1 51168005 51168005 single base substitution C A downstream_gene_variant PACA-CA 1 51168005 51168005 single base substitution C A intron_variant PACA-CA 1 51168060 51168061 deletion of <=200bp CT - downstream_gene_variant PACA-CA 1 51168060 51168061 deletion of <=200bp CT - intron_variant PACA-CA 1 51168287 51168287 single base substitution A G downstream_gene_variant PACA-CA 1 51168287 51168287 single base substitution A G intron_variant PACA-CA 1 51168684 51168684 single base substitution A T downstream_gene_variant PACA-CA 1 51168684 51168684 single base substitution A T intron_variant PACA-CA 1 51173624 51173624 single base substitution T A intron_variant PACA-CA 1 51173624 51173624 single base substitution T A upstream_gene_variant PACA-CA 1 51174794 51174794 single base substitution G C intron_variant PACA-CA 1 51174794 51174794 single base substitution G C upstream_gene_variant PACA-CA 1 51180297 51180307 deletion of <=200bp CCTTTGACAGA - intron_variant PACA-CA 1 51182381 51182381 single base substitution G A intron_variant PACA-CA 1 51183477 51183477 single base substitution C A intron_variant PACA-CA 1 51186295 51186295 single base substitution G A intron_variant PACA-CA 1 51189083 51189083 single base substitution A T intron_variant PACA-CA 1 51193823 51193823 single base substitution A G intron_variant PACA-CA 1 51194288 51194288 single base substitution C A intron_variant PACA-CA 1 51197986 51197986 single base substitution A T intron_variant PACA-CA 1 51199096 51199097 deletion of <=200bp TC - intron_variant PACA-CA 1 51203775 51203775 single base substitution A G intron_variant PACA-CA 1 51204928 51204928 single base substitution A G intron_variant PACA-CA 1 51205046 51205046 single base substitution A G intron_variant PACA-CA 1 51213232 51213232 single base substitution G T intron_variant PACA-CA 1 51215078 51215078 single base substitution A G intron_variant PACA-CA 1 51215493 51215493 single base substitution C T intron_variant PACA-CA 1 51219244 51219244 single base substitution C A intron_variant PACA-CA 1 51219348 51219348 single base substitution G A intron_variant PACA-CA 1 51220871 51220871 insertion of <=200bp - A intron_variant PACA-CA 1 51220906 51220906 single base substitution G A intron_variant PACA-CA 1 51225487 51225487 single base substitution T C intron_variant PACA-CA 1 51225644 51225644 single base substitution G A intron_variant PACA-CA 1 51225649 51225649 insertion of <=200bp - C intron_variant PACA-CA 1 51233206 51233206 single base substitution T A intron_variant PACA-CA 1 51235722 51235722 insertion of <=200bp - A intron_variant PACA-CA 1 51236055 51236055 single base substitution G A intron_variant PACA-CA 1 51239265 51239265 single base substitution C G intron_variant PACA-CA 1 51239266 51239266 single base substitution A G intron_variant PACA-CA 1 51241121 51241121 single base substitution G A intron_variant PACA-CA 1 51242901 51242901 single base substitution A T intron_variant PACA-CA 1 51245717 51245717 single base substitution A G intron_variant PACA-CA 1 51249155 51249155 single base substitution C A intron_variant PACA-CA 1 51251321 51251321 single base substitution G T intron_variant PACA-CA 1 51259410 51259410 single base substitution C T intron_variant PACA-CA 1 51264715 51264715 single base substitution C T intron_variant PACA-CA 1 51270433 51270433 single base substitution T C intron_variant PACA-CA 1 51273607 51273607 single base substitution C T intron_variant PACA-CA 1 51277136 51277136 insertion of <=200bp - A intron_variant PACA-CA 1 51278931 51278931 single base substitution T A intron_variant PACA-CA 1 51280627 51280627 single base substitution G A intron_variant PACA-CA 1 51280638 51280638 single base substitution G A intron_variant PACA-CA 1 51281161 51281161 single base substitution T C intron_variant PACA-CA 1 51281239 51281239 single base substitution T C intron_variant PACA-CA 1 51281942 51281942 single base substitution T A intron_variant PACA-CA 1 51286212 51286212 single base substitution C T intron_variant PACA-CA 1 51291836 51291836 single base substitution C A intron_variant PACA-CA 1 51295284 51295284 single base substitution T A intron_variant PACA-CA 1 51296563 51296563 single base substitution T C intron_variant PACA-CA 1 51297753 51297753 single base substitution G A intron_variant PACA-CA 1 51303052 51303052 single base substitution C T intron_variant PACA-CA 1 51303737 51303737 single base substitution T G intron_variant PACA-CA 1 51309072 51309072 single base substitution C T intron_variant PACA-CA 1 51309411 51309411 insertion of <=200bp - TG intron_variant PACA-CA 1 51319120 51319120 single base substitution G T intron_variant PACA-CA 1 51325028 51325028 single base substitution A G intron_variant PACA-CA 1 51326118 51326118 single base substitution G T intron_variant PACA-CA 1 51327870 51327870 single base substitution G T intron_variant PACA-CA 1 51328671 51328671 single base substitution C T intron_variant PACA-CA 1 51329017 51329017 single base substitution C A intron_variant PACA-CA 1 51336838 51336838 single base substitution C T intron_variant PACA-CA 1 51338414 51338414 insertion of <=200bp - A intron_variant PACA-CA 1 51340186 51340186 single base substitution C T intron_variant PACA-CA 1 51348315 51348315 single base substitution A G intron_variant PACA-CA 1 51350033 51350033 single base substitution G A intron_variant PACA-CA 1 51350058 51350058 single base substitution G T intron_variant PACA-CA 1 51350212 51350212 single base substitution T A intron_variant PACA-CA 1 51350984 51350984 single base substitution T A intron_variant PACA-CA 1 51350996 51350996 single base substitution A T intron_variant PACA-CA 1 51353405 51353405 single base substitution C T intron_variant PACA-CA 1 51353806 51353806 single base substitution G C intron_variant PACA-CA 1 51354101 51354101 single base substitution A G intron_variant PACA-CA 1 51354722 51354722 single base substitution T A intron_variant PACA-CA 1 51359766 51359766 single base substitution T G intron_variant PACA-CA 1 51362768 51362768 single base substitution T A intron_variant PACA-CA 1 51363087 51363087 single base substitution G A intron_variant PACA-CA 1 51364701 51364701 insertion of <=200bp - T intron_variant PACA-CA 1 51365654 51365654 single base substitution G A intron_variant PACA-CA 1 51366185 51366207 deletion of <=200bp AGTCAGACCAGTCTGACTCCAAA - intron_variant PACA-CA 1 51370435 51370435 single base substitution C G intron_variant PACA-CA 1 51374786 51374786 single base substitution T C intron_variant PACA-CA 1 51374987 51374987 single base substitution C T intron_variant PACA-CA 1 51376224 51376224 single base substitution C A intron_variant PACA-CA 1 51377653 51377653 single base substitution G A intron_variant PACA-CA 1 51381237 51381237 single base substitution A G intron_variant PACA-CA 1 51381652 51381652 single base substitution C T intron_variant PACA-CA 1 51382588 51382588 single base substitution G A intron_variant PACA-CA 1 51383287 51383288 deletion of <=200bp GG - intron_variant PACA-CA 1 51383299 51383299 single base substitution A G intron_variant PACA-CA 1 51383631 51383631 single base substitution A G intron_variant PACA-CA 1 51397563 51397563 insertion of <=200bp - A intron_variant PACA-CA 1 51397568 51397569 deletion of <=200bp AT - intron_variant PACA-CA 1 51399551 51399551 single base substitution C A intron_variant PACA-CA 1 51402537 51402537 single base substitution G A intron_variant PACA-CA 1 51404754 51404754 insertion of <=200bp - T intron_variant PACA-CA 1 51410834 51410834 single base substitution C T intron_variant PACA-CA 1 51416838 51416838 single base substitution G A intron_variant PACA-CA 1 51417985 51417985 single base substitution T C intron_variant PACA-CA 1 51418420 51418420 single base substitution T C intron_variant PACA-CA 1 51419493 51419493 insertion of <=200bp - A intron_variant PACA-CA 1 51422022 51422022 single base substitution T A intron_variant PACA-CA 1 51422100 51422100 single base substitution G T intron_variant PACA-CA 1 51428088 51428088 single base substitution A G upstream_gene_variant PACA-CA 1 51430705 51430705 single base substitution C A upstream_gene_variant PAEN-AU 1 50927484 50927484 single base substitution T A intron_variant PAEN-AU 1 51023580 51023580 insertion of <=200bp - TTATTTAT intron_variant PAEN-AU 1 51042356 51042356 single base substitution C T intron_variant PAEN-AU 1 51095273 51095273 single base substitution G C intron_variant PAEN-AU 1 51169691 51169691 insertion of <=200bp - AAA downstream_gene_variant PAEN-AU 1 51169691 51169691 insertion of <=200bp - AAA intron_variant PAEN-AU 1 51171523 51171523 single base substitution T A exon_variant PAEN-AU 1 51171523 51171523 single base substitution T A missense_variant I198F 592A>T PAEN-AU 1 51183660 51183660 insertion of <=200bp - TTTA intron_variant PAEN-AU 1 51191711 51191711 single base substitution G C intron_variant PAEN-AU 1 51236641 51236641 single base substitution G A intron_variant PAEN-AU 1 51237786 51237786 single base substitution G T intron_variant PAEN-AU 1 51289718 51289718 single base substitution A G intron_variant PAEN-AU 1 51301670 51301670 single base substitution C T intron_variant PAEN-AU 1 51304115 51304115 single base substitution T C intron_variant PAEN-AU 1 51328606 51328606 single base substitution C T intron_variant PAEN-AU 1 51396676 51396676 single base substitution C T intron_variant PAEN-IT 1 50902878 50902878 single base substitution C A downstream_gene_variant PAEN-IT 1 50926968 50926968 single base substitution T C intron_variant PAEN-IT 1 51004443 51004443 single base substitution T A downstream_gene_variant PAEN-IT 1 51004443 51004443 single base substitution T A intron_variant PAEN-IT 1 51004444 51004444 single base substitution T A downstream_gene_variant PAEN-IT 1 51004444 51004444 single base substitution T A intron_variant PAEN-IT 1 51026162 51026162 single base substitution G A intron_variant PAEN-IT 1 51044720 51044720 single base substitution A T intron_variant PAEN-IT 1 51123213 51123213 single base substitution A G intron_variant PAEN-IT 1 51155669 51155669 single base substitution T C intron_variant PAEN-IT 1 51260402 51260402 single base substitution T A intron_variant PAEN-IT 1 51287305 51287305 single base substitution C G intron_variant PAEN-IT 1 51298838 51298838 single base substitution G T intron_variant PAEN-IT 1 51314227 51314227 single base substitution G T intron_variant PAEN-IT 1 51326741 51326741 single base substitution G T intron_variant PAEN-IT 1 51348302 51348302 single base substitution A G intron_variant PBCA-DE 1 50904880 50904880 single base substitution C G downstream_gene_variant PBCA-DE 1 50918883 50918883 single base substitution C A intron_variant PBCA-DE 1 50926274 50926275 deletion of <=200bp TG - intron_variant PBCA-DE 1 50938041 50938052 deletion of <=200bp ACACACACACAC - intron_variant PBCA-DE 1 50941617 50941617 insertion of <=200bp - T intron_variant PBCA-DE 1 50942366 50942366 single base substitution G A intron_variant PBCA-DE 1 50950032 50950032 deletion of <=200bp G - intron_variant PBCA-DE 1 50951532 50951533 deletion of <=200bp GA - intron_variant PBCA-DE 1 50956135 50956135 single base substitution A G intron_variant PBCA-DE 1 50971101 50971101 single base substitution G T intron_variant PBCA-DE 1 50972081 50972081 single base substitution C A intron_variant PBCA-DE 1 50976439 50976439 deletion of <=200bp T - intron_variant PBCA-DE 1 50995911 50995912 deletion of <=200bp GT - intron_variant PBCA-DE 1 50999361 50999361 single base substitution A T intron_variant PBCA-DE 1 51006843 51006843 single base substitution A G intron_variant PBCA-DE 1 51020919 51020920 deletion of <=200bp AC - intron_variant PBCA-DE 1 51025881 51025881 single base substitution T C intron_variant PBCA-DE 1 51027489 51027489 single base substitution G A intron_variant PBCA-DE 1 51031193 51031193 single base substitution C G intron_variant PBCA-DE 1 51038534 51038534 deletion of <=200bp A - intron_variant PBCA-DE 1 51060751 51060751 single base substitution A G intron_variant PBCA-DE 1 51060752 51060752 single base substitution A G intron_variant PBCA-DE 1 51064958 51064959 deletion of <=200bp TA - intron_variant PBCA-DE 1 51067365 51067366 deletion of <=200bp AT - intron_variant PBCA-DE 1 51095468 51095468 single base substitution C T intron_variant PBCA-DE 1 51095729 51095729 insertion of <=200bp - A intron_variant PBCA-DE 1 51104260 51104260 single base substitution C T intron_variant PBCA-DE 1 51111927 51111928 deletion of <=200bp AC - intron_variant PBCA-DE 1 51114061 51114061 single base substitution G A intron_variant PBCA-DE 1 51118848 51118848 insertion of <=200bp - A intron_variant PBCA-DE 1 51122884 51122884 insertion of <=200bp - A intron_variant PBCA-DE 1 51126777 51126777 single base substitution G T intron_variant PBCA-DE 1 51134303 51134306 deletion of <=200bp GAAA - intron_variant PBCA-DE 1 51140533 51140533 insertion of <=200bp - TATTT intron_variant PBCA-DE 1 51142080 51142080 deletion of <=200bp A - intron_variant PBCA-DE 1 51145581 51145581 single base substitution A T intron_variant PBCA-DE 1 51146697 51146699 deletion of <=200bp AAT - intron_variant PBCA-DE 1 51158823 51158823 single base substitution G A intron_variant PBCA-DE 1 51160084 51160103 deletion of <=200bp TCTTGAAATTGAGTTTTCAT - intron_variant PBCA-DE 1 51167416 51167416 single base substitution T C downstream_gene_variant PBCA-DE 1 51167416 51167416 single base substitution T C intron_variant PBCA-DE 1 51172494 51172494 deletion of <=200bp G - intron_variant PBCA-DE 1 51172494 51172494 deletion of <=200bp G - upstream_gene_variant PBCA-DE 1 51178333 51178333 insertion of <=200bp - A intron_variant PBCA-DE 1 51184333 51184336 deletion of <=200bp TTTA - intron_variant PBCA-DE 1 51205970 51205970 single base substitution G A intron_variant PBCA-DE 1 51206328 51206328 single base substitution G A intron_variant PBCA-DE 1 51206507 51206508 deletion of <=200bp AC - intron_variant PBCA-DE 1 51207622 51207622 single base substitution C T intron_variant PBCA-DE 1 51235583 51235583 single base substitution C T intron_variant PBCA-DE 1 51236939 51236939 deletion of <=200bp T - intron_variant PBCA-DE 1 51242000 51242000 insertion of <=200bp - G intron_variant PBCA-DE 1 51248656 51248656 insertion of <=200bp - T intron_variant PBCA-DE 1 51255835 51255835 insertion of <=200bp - T intron_variant PBCA-DE 1 51263677 51263677 single base substitution T G intron_variant PBCA-DE 1 51264262 51264262 single base substitution C T intron_variant PBCA-DE 1 51268604 51268604 single base substitution G A intron_variant PBCA-DE 1 51270456 51270456 deletion of <=200bp A - intron_variant PBCA-DE 1 51276844 51276844 deletion of <=200bp A - intron_variant PBCA-DE 1 51284124 51284124 single base substitution G A intron_variant PBCA-DE 1 51285311 51285312 deletion of <=200bp CA - intron_variant PBCA-DE 1 51304859 51304859 deletion of <=200bp A - intron_variant PBCA-DE 1 51308052 51308052 single base substitution G T intron_variant PBCA-DE 1 51309053 51309053 single base substitution C G intron_variant PBCA-DE 1 51313561 51313562 deletion of <=200bp AC - intron_variant PBCA-DE 1 51315043 51315043 single base substitution T C intron_variant PBCA-DE 1 51323626 51323626 insertion of <=200bp - G exon_variant PBCA-DE 1 51323626 51323626 insertion of <=200bp - G frameshift_variant L30L? PBCA-DE 1 51326165 51326165 single base substitution A C intron_variant PBCA-DE 1 51332691 51332691 insertion of <=200bp - CC intron_variant PBCA-DE 1 51341889 51341889 single base substitution G T intron_variant PBCA-DE 1 51344202 51344202 single base substitution G A intron_variant PBCA-DE 1 51345451 51345451 deletion of <=200bp C - intron_variant PBCA-DE 1 51350968 51350969 deletion of <=200bp TC - intron_variant PBCA-DE 1 51352695 51352695 single base substitution A C intron_variant PBCA-DE 1 51357218 51357218 single base substitution G T intron_variant PBCA-DE 1 51362634 51362634 insertion of <=200bp - A intron_variant PBCA-DE 1 51364460 51364460 single base substitution C T intron_variant PBCA-DE 1 51375464 51375464 single base substitution G T intron_variant PBCA-DE 1 51381500 51381500 insertion of <=200bp - C intron_variant PBCA-DE 1 51383810 51383810 single base substitution C A intron_variant PBCA-DE 1 51386699 51386699 single base substitution C A intron_variant PBCA-DE 1 51394828 51394828 single base substitution G T intron_variant PBCA-DE 1 51419416 51419416 insertion of <=200bp - A intron_variant PBCA-DE 1 51425294 51425295 deletion of <=200bp CA - intron_variant PRAD-CA 1 50902058 50902058 single base substitution A T downstream_gene_variant PRAD-CA 1 50921678 50921678 single base substitution C T intron_variant PRAD-CA 1 50922735 50922735 single base substitution T C intron_variant PRAD-CA 1 50923191 50923191 single base substitution A T intron_variant PRAD-CA 1 50935331 50935331 single base substitution A G intron_variant PRAD-CA 1 50935449 50935449 single base substitution T C intron_variant PRAD-CA 1 50960756 50960756 single base substitution G T intron_variant PRAD-CA 1 50963585 50963585 single base substitution A T intron_variant PRAD-CA 1 50970279 50970279 single base substitution A G intron_variant PRAD-CA 1 50978519 50978519 single base substitution T C intron_variant PRAD-CA 1 51002904 51002904 single base substitution T C downstream_gene_variant PRAD-CA 1 51002904 51002904 single base substitution T C intron_variant PRAD-CA 1 51018712 51018712 single base substitution A T intron_variant PRAD-CA 1 51030164 51030164 single base substitution A G intron_variant PRAD-CA 1 51148499 51148499 single base substitution C A intron_variant PRAD-CA 1 51159192 51159192 single base substitution A T intron_variant PRAD-CA 1 51168296 51168296 single base substitution T C downstream_gene_variant PRAD-CA 1 51168296 51168296 single base substitution T C intron_variant PRAD-CA 1 51180901 51180901 single base substitution A C intron_variant PRAD-CA 1 51243415 51243415 single base substitution G A intron_variant PRAD-CA 1 51272077 51272077 single base substitution A C intron_variant PRAD-CA 1 51273505 51273505 single base substitution A G intron_variant PRAD-CA 1 51282978 51282978 single base substitution G A intron_variant PRAD-CA 1 51285424 51285424 single base substitution C T intron_variant PRAD-CA 1 51285426 51285426 single base substitution T C intron_variant PRAD-CA 1 51293947 51293947 single base substitution C T intron_variant PRAD-CA 1 51308112 51308112 single base substitution A C intron_variant PRAD-CA 1 51377857 51377857 single base substitution G A intron_variant PRAD-CA 1 51382897 51382897 single base substitution T C intron_variant PRAD-CA 1 51383350 51383350 single base substitution G A intron_variant PRAD-CA 1 51392336 51392336 single base substitution G A intron_variant PRAD-CA 1 51430540 51430540 single base substitution A G upstream_gene_variant PRAD-UK 1 50900428 50900428 single base substitution G A downstream_gene_variant PRAD-UK 1 50910681 50910681 single base substitution T C intron_variant PRAD-UK 1 50919296 50919296 single base substitution C G intron_variant PRAD-UK 1 50922588 50922588 single base substitution T G intron_variant PRAD-UK 1 50937163 50937171 deletion of <=200bp ATTATGAGT - intron_variant PRAD-UK 1 50944426 50944426 single base substitution T C intron_variant PRAD-UK 1 50949930 50949930 single base substitution G A intron_variant PRAD-UK 1 50968497 50968497 single base substitution T C intron_variant PRAD-UK 1 50970319 50970319 single base substitution C A intron_variant PRAD-UK 1 50985946 50985946 single base substitution A T intron_variant PRAD-UK 1 50990160 50990160 single base substitution G C intron_variant PRAD-UK 1 51005946 51005946 single base substitution A T intron_variant PRAD-UK 1 51016416 51016416 single base substitution A G intron_variant PRAD-UK 1 51024250 51024281 deletion of <=200bp GAACACCAACAGACTTATAAGAAAGATCTAGT - intron_variant PRAD-UK 1 51026131 51026131 single base substitution T C intron_variant PRAD-UK 1 51049762 51049762 single base substitution T C intron_variant PRAD-UK 1 51067893 51067893 single base substitution A C intron_variant PRAD-UK 1 51080603 51080603 single base substitution A G intron_variant PRAD-UK 1 51080603 51080603 single base substitution A G upstream_gene_variant PRAD-UK 1 51089018 51089018 single base substitution C T intron_variant PRAD-UK 1 51099078 51099078 single base substitution G C intron_variant PRAD-UK 1 51109198 51109198 single base substitution T A intron_variant PRAD-UK 1 51128196 51128196 single base substitution C G intron_variant PRAD-UK 1 51137877 51137877 single base substitution C A intron_variant PRAD-UK 1 51142137 51142137 insertion of <=200bp - A intron_variant PRAD-UK 1 51142146 51142146 insertion of <=200bp - A intron_variant PRAD-UK 1 51147507 51147507 single base substitution G T intron_variant PRAD-UK 1 51165672 51165672 single base substitution G A intron_variant PRAD-UK 1 51173625 51173625 single base substitution G A intron_variant PRAD-UK 1 51173625 51173625 single base substitution G A upstream_gene_variant PRAD-UK 1 51173682 51173682 single base substitution A G intron_variant PRAD-UK 1 51173682 51173682 single base substitution A G upstream_gene_variant PRAD-UK 1 51177498 51177498 single base substitution T C intron_variant PRAD-UK 1 51197903 51197903 single base substitution C T intron_variant PRAD-UK 1 51224408 51224408 single base substitution T C intron_variant PRAD-UK 1 51228803 51228803 single base substitution G A intron_variant PRAD-UK 1 51239170 51239170 single base substitution A C intron_variant PRAD-UK 1 51241597 51241597 single base substitution A G intron_variant PRAD-UK 1 51249972 51249972 single base substitution A G intron_variant PRAD-UK 1 51263071 51263071 deletion of <=200bp A - intron_variant PRAD-UK 1 51265985 51265985 single base substitution C T intron_variant PRAD-UK 1 51265990 51265990 single base substitution A T intron_variant PRAD-UK 1 51282889 51282889 single base substitution G A intron_variant PRAD-UK 1 51284925 51284925 single base substitution G A intron_variant PRAD-UK 1 51294369 51294369 single base substitution A G intron_variant PRAD-UK 1 51298874 51298874 single base substitution G A intron_variant PRAD-UK 1 51314784 51314784 single base substitution A C intron_variant PRAD-UK 1 51336053 51336053 single base substitution C T intron_variant PRAD-UK 1 51353881 51353881 single base substitution T G intron_variant PRAD-UK 1 51370997 51370997 single base substitution T C intron_variant PRAD-UK 1 51371652 51371652 single base substitution T A intron_variant PRAD-UK 1 51392477 51392477 single base substitution C T intron_variant PRAD-UK 1 51400385 51400385 single base substitution G C intron_variant PRAD-UK 1 51424344 51424344 single base substitution C A intron_variant PRAD-US 1 51049325 51049325 single base substitution T C missense_variant R102G 304A>G PRAD-US 1 51049325 51049325 single base substitution T C missense_variant R344G 1030A>G PRAD-US 1 51049325 51049325 single base substitution T C splice_region_variant PRAD-US 1 51253785 51253785 single base substitution C T exon_variant PRAD-US 1 51253785 51253785 single base substitution C T missense_variant R85Q 254G>A RECA-EU 1 50930001 50930001 single base substitution C T intron_variant RECA-EU 1 50932970 50932970 single base substitution A G intron_variant RECA-EU 1 50943547 50943547 single base substitution T C intron_variant RECA-EU 1 50944915 50944915 single base substitution C T intron_variant RECA-EU 1 50958015 50958015 single base substitution C A intron_variant RECA-EU 1 50960168 50960168 single base substitution A G intron_variant RECA-EU 1 50960407 50960407 single base substitution T A intron_variant RECA-EU 1 50965037 50965037 single base substitution T G intron_variant RECA-EU 1 50974355 50974355 single base substitution T A intron_variant RECA-EU 1 50979377 50979377 single base substitution T A intron_variant RECA-EU 1 50980953 50980953 single base substitution A C intron_variant RECA-EU 1 50984266 50984266 single base substitution C A intron_variant RECA-EU 1 50998622 50998622 single base substitution T A intron_variant RECA-EU 1 51011450 51011450 single base substitution A G intron_variant RECA-EU 1 51027390 51027390 single base substitution C T intron_variant RECA-EU 1 51040152 51040152 single base substitution G C intron_variant RECA-EU 1 51069034 51069034 single base substitution G A intron_variant RECA-EU 1 51072040 51072040 single base substitution A G intron_variant RECA-EU 1 51072903 51072903 single base substitution T A intron_variant RECA-EU 1 51072903 51072903 single base substitution T A upstream_gene_variant RECA-EU 1 51078789 51078789 single base substitution C A intron_variant RECA-EU 1 51078789 51078789 single base substitution C A upstream_gene_variant RECA-EU 1 51079319 51079319 single base substitution A G intron_variant RECA-EU 1 51079319 51079319 single base substitution A G upstream_gene_variant RECA-EU 1 51086343 51086343 single base substitution G A intron_variant RECA-EU 1 51098557 51098557 single base substitution C G intron_variant RECA-EU 1 51099446 51099446 single base substitution G T intron_variant RECA-EU 1 51107456 51107456 single base substitution G A intron_variant RECA-EU 1 51107957 51107957 single base substitution G A intron_variant RECA-EU 1 51111304 51111304 single base substitution G T intron_variant RECA-EU 1 51134152 51134152 single base substitution T G intron_variant RECA-EU 1 51145565 51145565 single base substitution C A intron_variant RECA-EU 1 51145590 51145590 single base substitution C T intron_variant RECA-EU 1 51153049 51153049 single base substitution A T intron_variant RECA-EU 1 51154026 51154026 single base substitution G A intron_variant RECA-EU 1 51170235 51170235 single base substitution C G downstream_gene_variant RECA-EU 1 51170235 51170235 single base substitution C G intron_variant RECA-EU 1 51181473 51181473 single base substitution A G intron_variant RECA-EU 1 51181845 51181845 single base substitution C A intron_variant RECA-EU 1 51188590 51188590 single base substitution C G intron_variant RECA-EU 1 51194300 51194300 single base substitution T C intron_variant RECA-EU 1 51194306 51194306 single base substitution T G intron_variant RECA-EU 1 51200476 51200476 single base substitution G A intron_variant RECA-EU 1 51206047 51206047 single base substitution G T intron_variant RECA-EU 1 51210358 51210358 single base substitution T A missense_variant S153C 457A>T RECA-EU 1 51210358 51210358 single base substitution T A splice_region_variant RECA-EU 1 51217351 51217351 single base substitution G A intron_variant RECA-EU 1 51221983 51221983 single base substitution C T intron_variant RECA-EU 1 51228710 51228710 single base substitution T A intron_variant RECA-EU 1 51231203 51231203 single base substitution A C intron_variant RECA-EU 1 51237279 51237279 single base substitution C G intron_variant RECA-EU 1 51242698 51242698 single base substitution G T intron_variant RECA-EU 1 51255522 51255522 single base substitution T A intron_variant RECA-EU 1 51266687 51266687 single base substitution T A intron_variant RECA-EU 1 51281281 51281281 single base substitution T G intron_variant RECA-EU 1 51290226 51290226 single base substitution T C intron_variant RECA-EU 1 51290478 51290478 single base substitution T G intron_variant RECA-EU 1 51313545 51313545 single base substitution A G intron_variant RECA-EU 1 51324450 51324450 single base substitution C T intron_variant RECA-EU 1 51326183 51326183 single base substitution C T intron_variant RECA-EU 1 51357604 51357604 single base substitution T G intron_variant RECA-EU 1 51360185 51360185 single base substitution T C intron_variant RECA-EU 1 51361504 51361504 single base substitution A C intron_variant RECA-EU 1 51365545 51365545 single base substitution C A intron_variant RECA-EU 1 51385569 51385569 single base substitution T G intron_variant RECA-EU 1 51387612 51387612 single base substitution G A intron_variant RECA-EU 1 51388150 51388150 single base substitution A G intron_variant RECA-EU 1 51395694 51395694 single base substitution C A intron_variant RECA-EU 1 51399783 51399783 single base substitution T A intron_variant SKCA-BR 1 50901903 50901903 single base substitution G A downstream_gene_variant SKCA-BR 1 50902583 50902583 insertion of <=200bp - CTAAG downstream_gene_variant SKCA-BR 1 50909810 50909810 single base substitution G A intron_variant SKCA-BR 1 50913988 50913988 single base substitution C T intron_variant SKCA-BR 1 50915161 50915161 single base substitution C T intron_variant SKCA-BR 1 50915324 50915324 single base substitution A T intron_variant SKCA-BR 1 50918623 50918623 single base substitution C T intron_variant SKCA-BR 1 50928119 50928119 single base substitution G C intron_variant SKCA-BR 1 50930203 50930203 single base substitution G A intron_variant SKCA-BR 1 50931291 50931291 single base substitution T A intron_variant SKCA-BR 1 50931886 50931886 single base substitution C G intron_variant SKCA-BR 1 50934212 50934212 single base substitution A C intron_variant SKCA-BR 1 50937543 50937543 single base substitution G A intron_variant SKCA-BR 1 50937736 50937736 single base substitution G A intron_variant SKCA-BR 1 50940118 50940118 single base substitution G A intron_variant SKCA-BR 1 50942319 50942319 single base substitution A G intron_variant SKCA-BR 1 50942646 50942646 single base substitution G A intron_variant SKCA-BR 1 50942647 50942647 single base substitution G A intron_variant SKCA-BR 1 50943663 50943663 single base substitution T A intron_variant SKCA-BR 1 50945891 50945891 single base substitution A C intron_variant SKCA-BR 1 50947583 50947583 single base substitution T G intron_variant SKCA-BR 1 50956132 50956132 single base substitution G A intron_variant SKCA-BR 1 50957355 50957355 single base substitution T C intron_variant SKCA-BR 1 50958696 50958696 single base substitution G A intron_variant SKCA-BR 1 50960348 50960348 single base substitution T A intron_variant SKCA-BR 1 50960521 50960521 single base substitution T C intron_variant SKCA-BR 1 50962444 50962444 single base substitution C T intron_variant SKCA-BR 1 50965035 50965035 insertion of <=200bp - GT intron_variant SKCA-BR 1 50965465 50965465 single base substitution G A intron_variant SKCA-BR 1 50967332 50967332 insertion of <=200bp - CA intron_variant SKCA-BR 1 50971585 50971585 single base substitution G A intron_variant SKCA-BR 1 50971822 50971822 single base substitution G A intron_variant SKCA-BR 1 50973320 50973320 single base substitution C T intron_variant SKCA-BR 1 50977136 50977136 single base substitution T C intron_variant SKCA-BR 1 50985485 50985485 single base substitution A C intron_variant SKCA-BR 1 50993483 50993483 insertion of <=200bp - GTCTCTC intron_variant SKCA-BR 1 50993483 50993493 deletion of <=200bp GTCTCTCTCTC - intron_variant SKCA-BR 1 50993516 50993516 single base substitution C T intron_variant SKCA-BR 1 50993532 50993532 single base substitution C T intron_variant SKCA-BR 1 50993655 50993655 single base substitution A G intron_variant SKCA-BR 1 50994289 50994289 single base substitution A G intron_variant SKCA-BR 1 50995910 50995918 deletion of <=200bp GGTGTGTGT - intron_variant SKCA-BR 1 51004225 51004226 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 51004225 51004226 deletion of <=200bp CA - intron_variant SKCA-BR 1 51004331 51004331 single base substitution C G downstream_gene_variant SKCA-BR 1 51004331 51004331 single base substitution C G intron_variant SKCA-BR 1 51007072 51007072 single base substitution G A intron_variant SKCA-BR 1 51009056 51009056 single base substitution G A intron_variant SKCA-BR 1 51009425 51009425 single base substitution A C intron_variant SKCA-BR 1 51016603 51016603 single base substitution G A intron_variant SKCA-BR 1 51020036 51020036 insertion of <=200bp - AATATAT intron_variant SKCA-BR 1 51021234 51021234 single base substitution C T intron_variant SKCA-BR 1 51023579 51023579 insertion of <=200bp - CTTATTTAT intron_variant SKCA-BR 1 51039504 51039504 single base substitution C A intron_variant SKCA-BR 1 51043359 51043359 single base substitution C T intron_variant SKCA-BR 1 51045188 51045188 single base substitution T C intron_variant SKCA-BR 1 51045234 51045234 single base substitution T A intron_variant SKCA-BR 1 51045317 51045317 single base substitution T C intron_variant SKCA-BR 1 51051573 51051574 deletion of <=200bp AG - intron_variant SKCA-BR 1 51051850 51051850 single base substitution C T intron_variant SKCA-BR 1 51051871 51051871 single base substitution T C intron_variant SKCA-BR 1 51055626 51055626 single base substitution G A intron_variant SKCA-BR 1 51057239 51057239 single base substitution G A intron_variant SKCA-BR 1 51060313 51060313 single base substitution T G intron_variant SKCA-BR 1 51060329 51060329 single base substitution G A intron_variant SKCA-BR 1 51062133 51062133 single base substitution C T intron_variant SKCA-BR 1 51062798 51062798 single base substitution G A intron_variant SKCA-BR 1 51066088 51066088 single base substitution T C intron_variant SKCA-BR 1 51066540 51066540 single base substitution A G intron_variant SKCA-BR 1 51070217 51070217 single base substitution T C intron_variant SKCA-BR 1 51071255 51071255 single base substitution G A intron_variant SKCA-BR 1 51072208 51072208 single base substitution G T intron_variant SKCA-BR 1 51072297 51072297 single base substitution G A intron_variant SKCA-BR 1 51074315 51074315 single base substitution A G intron_variant SKCA-BR 1 51074315 51074315 single base substitution A G upstream_gene_variant SKCA-BR 1 51074692 51074692 single base substitution G A intron_variant SKCA-BR 1 51074692 51074692 single base substitution G A upstream_gene_variant SKCA-BR 1 51076382 51076382 single base substitution G A intron_variant SKCA-BR 1 51076382 51076382 single base substitution G A upstream_gene_variant SKCA-BR 1 51078089 51078089 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 51078089 51078089 single base substitution G A intron_variant SKCA-BR 1 51079547 51079547 single base substitution G A intron_variant SKCA-BR 1 51079547 51079547 single base substitution G A upstream_gene_variant SKCA-BR 1 51080016 51080016 single base substitution G A intron_variant SKCA-BR 1 51080016 51080016 single base substitution G A upstream_gene_variant SKCA-BR 1 51080191 51080191 insertion of <=200bp - GTAA intron_variant SKCA-BR 1 51080191 51080191 insertion of <=200bp - GTAA upstream_gene_variant SKCA-BR 1 51080197 51080197 single base substitution T C intron_variant SKCA-BR 1 51080197 51080197 single base substitution T C upstream_gene_variant SKCA-BR 1 51084086 51084086 insertion of <=200bp - GT intron_variant SKCA-BR 1 51086309 51086309 single base substitution C T intron_variant SKCA-BR 1 51088078 51088078 single base substitution A C intron_variant SKCA-BR 1 51089021 51089021 single base substitution C T intron_variant SKCA-BR 1 51090868 51090868 single base substitution G T intron_variant SKCA-BR 1 51097763 51097763 single base substitution G A intron_variant SKCA-BR 1 51098644 51098644 single base substitution T A intron_variant SKCA-BR 1 51100484 51100484 single base substitution G A intron_variant SKCA-BR 1 51103353 51103353 insertion of <=200bp - ATATGTGTGTG intron_variant SKCA-BR 1 51103353 51103353 insertion of <=200bp - ATATGTGTGTGTG intron_variant SKCA-BR 1 51104117 51104117 insertion of <=200bp - CT intron_variant SKCA-BR 1 51106226 51106226 single base substitution A G intron_variant SKCA-BR 1 51111521 51111521 single base substitution G A intron_variant SKCA-BR 1 51117480 51117480 single base substitution T A intron_variant SKCA-BR 1 51118093 51118093 single base substitution G A intron_variant SKCA-BR 1 51119640 51119640 single base substitution A C intron_variant SKCA-BR 1 51120845 51120845 single base substitution C T intron_variant SKCA-BR 1 51120846 51120847 deletion of <=200bp AC - intron_variant SKCA-BR 1 51122053 51122053 single base substitution G C intron_variant SKCA-BR 1 51126063 51126063 single base substitution G A intron_variant SKCA-BR 1 51131374 51131374 single base substitution G A intron_variant SKCA-BR 1 51134675 51134675 single base substitution T A intron_variant SKCA-BR 1 51140519 51140519 single base substitution C T intron_variant SKCA-BR 1 51140532 51140532 insertion of <=200bp - CTATTT intron_variant SKCA-BR 1 51140532 51140537 deletion of <=200bp CTATTT - intron_variant SKCA-BR 1 51140543 51140543 insertion of <=200bp - TATTTTATTTTATTTC intron_variant SKCA-BR 1 51142257 51142257 single base substitution C G intron_variant SKCA-BR 1 51143523 51143523 single base substitution C G intron_variant SKCA-BR 1 51159037 51159037 single base substitution C T intron_variant SKCA-BR 1 51160166 51160166 single base substitution T C intron_variant SKCA-BR 1 51160917 51160917 single base substitution C T intron_variant SKCA-BR 1 51163459 51163459 insertion of <=200bp - TA intron_variant SKCA-BR 1 51167305 51167305 single base substitution C T downstream_gene_variant SKCA-BR 1 51167305 51167305 single base substitution C T intron_variant SKCA-BR 1 51169864 51169864 single base substitution T A downstream_gene_variant SKCA-BR 1 51169864 51169864 single base substitution T A intron_variant SKCA-BR 1 51174111 51174111 single base substitution T G intron_variant SKCA-BR 1 51174111 51174111 single base substitution T G upstream_gene_variant SKCA-BR 1 51174206 51174206 single base substitution T A intron_variant SKCA-BR 1 51174206 51174206 single base substitution T A upstream_gene_variant SKCA-BR 1 51177911 51177911 single base substitution G A intron_variant SKCA-BR 1 51179445 51179445 insertion of <=200bp - CT intron_variant SKCA-BR 1 51183257 51183257 single base substitution T C intron_variant SKCA-BR 1 51183599 51183599 single base substitution G A intron_variant SKCA-BR 1 51187122 51187122 single base substitution G A intron_variant SKCA-BR 1 51187123 51187123 single base substitution G A intron_variant SKCA-BR 1 51188096 51188096 single base substitution G A intron_variant SKCA-BR 1 51189909 51189910 deletion of <=200bp CA - intron_variant SKCA-BR 1 51193195 51193195 single base substitution G A intron_variant SKCA-BR 1 51194044 51194044 single base substitution T G intron_variant SKCA-BR 1 51194708 51194708 insertion of <=200bp - ATCTATC intron_variant SKCA-BR 1 51195149 51195149 single base substitution G A intron_variant SKCA-BR 1 51200405 51200406 deletion of <=200bp CA - intron_variant SKCA-BR 1 51202962 51202962 single base substitution T A intron_variant SKCA-BR 1 51207319 51207319 single base substitution G A intron_variant SKCA-BR 1 51209842 51209842 single base substitution T A intron_variant SKCA-BR 1 51209864 51209864 single base substitution A C intron_variant SKCA-BR 1 51211962 51211966 deletion of <=200bp ATATT - intron_variant SKCA-BR 1 51214654 51214654 single base substitution A C intron_variant SKCA-BR 1 51220944 51220950 deletion of <=200bp AGAAACT - intron_variant SKCA-BR 1 51222345 51222345 single base substitution G A intron_variant SKCA-BR 1 51226371 51226371 single base substitution G A intron_variant SKCA-BR 1 51227426 51227426 single base substitution A G intron_variant SKCA-BR 1 51231750 51231750 single base substitution A G intron_variant SKCA-BR 1 51231997 51231997 single base substitution C T intron_variant SKCA-BR 1 51241580 51241580 single base substitution G A intron_variant SKCA-BR 1 51246491 51246491 single base substitution G A intron_variant SKCA-BR 1 51251803 51251803 insertion of <=200bp - CA intron_variant SKCA-BR 1 51256312 51256312 single base substitution C G intron_variant SKCA-BR 1 51258393 51258393 single base substitution G A intron_variant SKCA-BR 1 51258673 51258673 insertion of <=200bp - CT intron_variant SKCA-BR 1 51258716 51258716 single base substitution A T intron_variant SKCA-BR 1 51258829 51258829 single base substitution G T intron_variant SKCA-BR 1 51258879 51258879 single base substitution G A intron_variant SKCA-BR 1 51263298 51263298 single base substitution G A intron_variant SKCA-BR 1 51263743 51263743 insertion of <=200bp - TA intron_variant SKCA-BR 1 51269956 51269956 single base substitution T G intron_variant SKCA-BR 1 51271695 51271695 single base substitution G A intron_variant SKCA-BR 1 51278555 51278555 single base substitution A C intron_variant SKCA-BR 1 51281877 51281877 single base substitution C T intron_variant SKCA-BR 1 51284514 51284514 insertion of <=200bp - CA intron_variant SKCA-BR 1 51285438 51285450 deletion of <=200bp TATATATATATAC - intron_variant SKCA-BR 1 51285472 51285472 single base substitution T C intron_variant SKCA-BR 1 51291342 51291342 single base substitution C A intron_variant SKCA-BR 1 51294133 51294133 single base substitution G A intron_variant SKCA-BR 1 51295513 51295513 insertion of <=200bp - GT intron_variant SKCA-BR 1 51299542 51299542 single base substitution T C intron_variant SKCA-BR 1 51300021 51300021 single base substitution C T intron_variant SKCA-BR 1 51301228 51301228 single base substitution G A intron_variant SKCA-BR 1 51301355 51301355 single base substitution G A intron_variant SKCA-BR 1 51308647 51308647 single base substitution A G intron_variant SKCA-BR 1 51312213 51312213 single base substitution G A intron_variant SKCA-BR 1 51312330 51312330 single base substitution C T intron_variant SKCA-BR 1 51312344 51312344 single base substitution A T intron_variant SKCA-BR 1 51314452 51314452 single base substitution C A intron_variant SKCA-BR 1 51316753 51316753 insertion of <=200bp - AT intron_variant SKCA-BR 1 51318738 51318738 single base substitution T C intron_variant SKCA-BR 1 51319878 51319878 single base substitution A C intron_variant SKCA-BR 1 51327621 51327621 insertion of <=200bp - GAGATAAATGTCATTTGTTGAAGCAAACC intron_variant SKCA-BR 1 51333907 51333907 single base substitution C A intron_variant SKCA-BR 1 51335661 51335661 single base substitution G A intron_variant SKCA-BR 1 51342375 51342375 single base substitution G A intron_variant SKCA-BR 1 51342856 51342856 single base substitution G A intron_variant SKCA-BR 1 51344576 51344576 single base substitution C A intron_variant SKCA-BR 1 51346306 51346306 single base substitution T G intron_variant SKCA-BR 1 51348298 51348298 single base substitution A G intron_variant SKCA-BR 1 51348303 51348303 single base substitution A G intron_variant SKCA-BR 1 51350225 51350225 single base substitution A T intron_variant SKCA-BR 1 51350967 51350967 insertion of <=200bp - TTCTCTCTC intron_variant SKCA-BR 1 51351073 51351073 single base substitution G A intron_variant SKCA-BR 1 51354994 51354994 single base substitution G A intron_variant SKCA-BR 1 51359617 51359617 single base substitution G A intron_variant SKCA-BR 1 51361093 51361093 single base substitution G T intron_variant SKCA-BR 1 51361974 51361974 single base substitution G A intron_variant SKCA-BR 1 51367463 51367463 single base substitution G A intron_variant SKCA-BR 1 51371667 51371667 single base substitution G A intron_variant SKCA-BR 1 51375615 51375615 single base substitution G A intron_variant SKCA-BR 1 51376268 51376268 single base substitution T C intron_variant SKCA-BR 1 51380091 51380091 single base substitution A G intron_variant SKCA-BR 1 51381831 51381831 single base substitution G A intron_variant SKCA-BR 1 51383296 51383311 deletion of <=200bp AAAAGGAAAGGAAAGG - intron_variant SKCA-BR 1 51386313 51386313 single base substitution T A intron_variant SKCA-BR 1 51386845 51386845 single base substitution A C intron_variant SKCA-BR 1 51388130 51388130 insertion of <=200bp - CA intron_variant SKCA-BR 1 51394766 51394766 single base substitution G A intron_variant SKCA-BR 1 51395378 51395378 single base substitution G A intron_variant SKCA-BR 1 51395855 51395855 single base substitution G A intron_variant SKCA-BR 1 51396209 51396209 single base substitution T A intron_variant SKCA-BR 1 51396479 51396479 insertion of <=200bp - GA intron_variant SKCA-BR 1 51397560 51397560 insertion of <=200bp - AAAT intron_variant SKCA-BR 1 51399447 51399447 single base substitution A T intron_variant SKCA-BR 1 51399661 51399661 single base substitution C T intron_variant SKCA-BR 1 51402611 51402611 single base substitution G A intron_variant SKCA-BR 1 51404538 51404538 single base substitution A G intron_variant SKCA-BR 1 51417871 51417871 single base substitution A C intron_variant SKCA-BR 1 51418472 51418472 single base substitution C T intron_variant SKCA-BR 1 51419855 51419855 single base substitution G A intron_variant SKCA-BR 1 51425853 51425853 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 51425853 51425853 single base substitution A G upstream_gene_variant SKCA-BR 1 51427004 51427004 single base substitution C T upstream_gene_variant SKCA-BR 1 51430268 51430268 single base substitution C T upstream_gene_variant SKCM-US 1 50907144 50907145 deletion of <=200bp GA - 3_prime_UTR_variant SKCM-US 1 50907144 50907145 deletion of <=200bp GA - frameshift_variant PQ398 SKCM-US 1 50907144 50907145 deletion of <=200bp GA - frameshift_variant PQ640 SKCM-US 1 50941337 50941337 single base substitution G A exon_variant SKCM-US 1 50941337 50941337 single base substitution G A synonymous_variant S314S 942C>T SKCM-US 1 50941337 50941337 single base substitution G A synonymous_variant S556S 1668C>T SKCM-US 1 50957438 50957439 deletion of <=200bp CT - exon_variant SKCM-US 1 50957438 50957439 deletion of <=200bp CT - frameshift_variant E268 SKCM-US 1 50957438 50957439 deletion of <=200bp CT - frameshift_variant E510 SKCM-US 1 51032830 51032830 single base substitution C A exon_variant SKCM-US 1 51032830 51032830 single base substitution C A missense_variant C154F 461G>T SKCM-US 1 51032830 51032830 single base substitution C A missense_variant C396F 1187G>T SKCM-US 1 51048346 51048346 single base substitution A T exon_variant SKCM-US 1 51048346 51048346 single base substitution A T missense_variant F111I 331T>A SKCM-US 1 51048346 51048346 single base substitution A T missense_variant F353I 1057T>A SKCM-US 1 51121201 51121201 single base substitution C T splice_acceptor_variant SKCM-US 1 51204578 51204578 single base substitution G A exon_variant SKCM-US 1 51204578 51204578 single base substitution G A missense_variant L170F 508C>T SKCM-US 1 51323654 51323654 single base substitution C A exon_variant SKCM-US 1 51323654 51323654 single base substitution C A stop_gained E21* 61G>T SKCM-US 1 51425473 51425473 single base substitution T C missense_variant N4S 11A>G SKCM-US 1 51425473 51425473 single base substitution T C upstream_gene_variant STAD-US 1 50941230 50941230 single base substitution G A exon_variant STAD-US 1 50941230 50941230 single base substitution G A missense_variant A350V 1049C>T STAD-US 1 50941230 50941230 single base substitution G A missense_variant A592V 1775C>T STAD-US 1 50941256 50941256 single base substitution G A exon_variant STAD-US 1 50941256 50941256 single base substitution G A synonymous_variant G341G 1023C>T STAD-US 1 50941256 50941256 single base substitution G A synonymous_variant G583G 1749C>T STAD-US 1 50956304 50956304 single base substitution A G exon_variant STAD-US 1 50956304 50956304 single base substitution A G missense_variant F295L 883T>C STAD-US 1 50956304 50956304 single base substitution A G missense_variant F537L 1609T>C STAD-US 1 50956312 50956312 single base substitution G A exon_variant STAD-US 1 50956312 50956312 single base substitution G A missense_variant A292V 875C>T STAD-US 1 50956312 50956312 single base substitution G A missense_variant A534V 1601C>T STAD-US 1 51049325 51049325 single base substitution T C missense_variant R102G 304A>G STAD-US 1 51049325 51049325 single base substitution T C missense_variant R344G 1030A>G STAD-US 1 51049325 51049325 single base substitution T C splice_region_variant STAD-US 1 51050377 51050377 single base substitution G A exon_variant STAD-US 1 51050377 51050377 single base substitution G A missense_variant A316V 947C>T STAD-US 1 51050377 51050377 single base substitution G A missense_variant A74V 221C>T STAD-US 1 51171554 51171554 single base substitution C G 5_prime_UTR_variant STAD-US 1 51171554 51171554 single base substitution C G exon_variant STAD-US 1 51171554 51171554 single base substitution C G missense_variant Q187H 561G>C STAD-US 1 51323599 51323599 single base substitution A G splice_donor_variant STAD-US 1 51425455 51425455 single base substitution A C missense_variant I10S 29T>G STAD-US 1 51425455 51425455 single base substitution A C upstream_gene_variant THCA-SA 1 51210421 51210421 single base substitution C G exon_variant THCA-SA 1 51210421 51210421 single base substitution C G missense_variant E132Q 394G>C UCEC-US 1 50917800 50917800 single base substitution G A exon_variant UCEC-US 1 50917800 50917800 single base substitution G A intron_variant UCEC-US 1 50941250 50941250 single base substitution G T exon_variant UCEC-US 1 50941250 50941250 single base substitution G T missense_variant F343L 1029C>A UCEC-US 1 50941250 50941250 single base substitution G T missense_variant F585L 1755C>A UCEC-US 1 50957422 50957422 single base substitution G A exon_variant UCEC-US 1 50957422 50957422 single base substitution G A missense_variant R274C 820C>T UCEC-US 1 50957422 50957422 single base substitution G A missense_variant R516C 1546C>T UCEC-US 1 51005293 51005293 single base substitution G T exon_variant UCEC-US 1 51005293 51005293 single base substitution G T stop_gained S217* 650C>A UCEC-US 1 51005293 51005293 single base substitution G T stop_gained S459* 1376C>A UCEC-US 1 51061888 51061888 single base substitution T C missense_variant M249V 745A>G UCEC-US 1 51061888 51061888 single base substitution T C missense_variant M7V 19A>G UCEC-US 1 51061888 51061888 single base substitution T C splice_region_variant UCEC-US 1 51121137 51121137 single base substitution G A exon_variant UCEC-US 1 51121137 51121137 single base substitution G A missense_variant P241S 721C>T UCEC-US 1 51121193 51121193 single base substitution C A exon_variant UCEC-US 1 51121193 51121193 single base substitution C A missense_variant R222I 665G>T UCEC-US 1 51204597 51204597 single base substitution T G exon_variant UCEC-US 1 51204597 51204597 single base substitution T G missense_variant K163N 489A>C UCEC-US 1 51210370 51210370 single base substitution C A exon_variant UCEC-US 1 51210370 51210370 single base substitution C A missense_variant D149Y 445G>T UCEC-US 1 51210448 51210448 single base substitution C A splice_acceptor_variant UCEC-US 1 51253790 51253790 single base substitution C T exon_variant UCEC-US 1 51253790 51253790 single base substitution C T synonymous_variant A83A 249G>A UCEC-US 1 51323642 51323642 single base substitution C T exon_variant UCEC-US 1 51323642 51323642 single base substitution C T missense_variant E25K 73G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6452-01 COSM4008705 c.1609T>C p.F537L Substitution - Missense 1:50490632-50490632 - 9583_PT COSM5754466 c.1032-4A>G p.? Unknown 1:50582703-50582703 - TCGA-CJ-5676-01 COSM464721 c.1653G>A p.E551E Substitution - coding silent 1:50490588-50490588 - LUAD-RT-S01700 COSM378589 c.1651G>T p.E551* Substitution - Nonsense 1:50490590-50490590 - TCGA-EX-A1H6-01 COSM4848866 c.604G>A p.E202K Substitution - Missense 1:50705839-50705839 - B89-4 COSM1748492 c.939G>T p.A313A Substitution - coding silent 1:50584713-50584713 - TCGA-D1-A17Q-01 COSM910510 c.249G>A p.A83A Substitution - coding silent 1:50788118-50788118 - TCGA-CD-A4MG-01 COSM4008704 c.1749C>T p.G583G Substitution - coding silent 1:50475584-50475584 - TCGA-D5-6927-01 COSM1343266 c.74A>G p.E25G Substitution - Missense 1:50857969-50857969 - TCGA-EJ-7783-01 COSM1470198 c.254G>A p.R85Q Substitution - Missense 1:50788113-50788113 - 8064559 COSM3386228 c.1628G>A p.R543H Substitution - Missense 1:50490613-50490613 - CSCC-35-T COSM4472504 c.1788C>T p.L596L Substitution - coding silent 1:50475545-50475545 - TCGA-D1-A17Q-01 COSM910507 c.489A>C p.K163N Substitution - Missense 1:50738925-50738925 - STC246 COSM5053566 c.4G>A p.A2T Substitution - Missense 1:50959808-50959808 - KYSE-30 COSM4239198 c.1709C>T p.A570V Substitution - Missense 1:50475624-50475624 - CHC2216T COSM4805938 c.1129A>G p.I377V Substitution - Missense 1:50567216-50567216 - TCGA-D3-A5GO-06 COSM3490600 c.658-1G>A p.? Unknown 1:50655529-50655529 - sysucc-1370T COSM5470327 c.114+3A>T p.? Unknown 1:50857926-50857926 - S00501 COSM310994 c.967+3_967+6delGAGT p.? Unknown 1:50584679-50584682 - YULAN COSM1687657 c.1321C>T p.R441W Substitution - Missense 1:50539676-50539676 - MZ1-PC COSM14017 c.265C>T p.P89S Substitution - Missense 1:50788102-50788102 - 587342 COSM1205986 c.877G>T p.G293* Substitution - Nonsense 1:50584775-50584775 - TCGA-AX-A0J0-01 COSM910504 c.745A>G p.M249V Substitution - Missense 1:50596216-50596216 - PD10014a COSM5769802 c.1919C>A p.P640H Substitution - Missense 1:50441474-50441474 - TCGA-AD-5900-01 COSM1343260 c.1647A>C p.E549D Substitution - Missense 1:50490594-50490594 - HCC120 COSM3705921 c.1031+9A>G p.? Unknown 1:50583643-50583643 - pfg125T COSM4755098 c.1477G>T p.E493* Substitution - Nonsense 1:50535386-50535386 - TCGA-CM-5349-01 COSM1343261 c.1334C>T p.T445M Substitution - Missense 1:50539663-50539663 - TCGA-ED-A7XO-01 COSM4929096 c.111A>T p.L37F Substitution - Missense 1:50857932-50857932 - TCGA-B5-A0JY-01 COSM910506 c.665G>T p.R222I Substitution - Missense 1:50655521-50655521 - OSCC-GB_00120111 COSM3718380 c.1371G>A p.K457K Substitution - coding silent 1:50539626-50539626 - OSCC-GB_01060111 COSM4883119 c.505G>T p.V169F Substitution - Missense 1:50738909-50738909 - CSCC-57-T COSM4474687 c.1936C>T p.L646F Substitution - Missense 1:50441457-50441457 - TCGA-EE-A184-06 COSM3490602 c.61G>T p.E21* Substitution - Nonsense 1:50857982-50857982 - LUAD-F00282 COSM366955 c.1759G>T p.E587* Substitution - Nonsense 1:50475574-50475574 - TCGA-AO-A128-01 COSM5832625 c.227delC p.P76fs*12 Deletion - Frameshift 1:50788140-50788140 - LUAD-QCHM7 COSM377099 c.922G>C p.E308Q Substitution - Missense 1:50584730-50584730 - TCGA-EE-A3AF-06 COSM3490603 c.11A>G p.N4S Substitution - Missense 1:50959801-50959801 - TCGA-GM-A2DA-01 COSM3805501 c.1876C>T p.Q626* Substitution - Nonsense 1:50441517-50441517 - S00501 COSM310994 c.967+3_967+6delGAGT p.? Unknown 1:50584679-50584682 - HT115 COSM910511 c.73G>A p.E25K Substitution - Missense 1:50857970-50857970 - RKO COSM2192228 c.1432A>G p.M478V Substitution - Missense 1:50535431-50535431 - PD9004a COSM5796373 c.234C>T p.S78S Substitution - coding silent 1:50788133-50788133 - 9583_CLM COSM5754466 c.1032-4A>G p.? Unknown 1:50582703-50582703 - TCGA-EK-A2PI-01 COSM4831188 c.461C>A p.T154K Substitution - Missense 1:50738953-50738953 - PT23_1 COSM5902467 c.1114-8C>T p.? Unknown 1:50567239-50567239 - LUAD-S01304 COSM385384 c.475C>G p.L159V Substitution - Missense 1:50738939-50738939 - SA099 COSM212106 c.1135C>G p.L379V Substitution - Missense 1:50567210-50567210 - SA067 COSM211876 c.1830G>A p.W610* Substitution - Nonsense 1:50475503-50475503 - 8015764 COSM218471 c.1032-1G>C p.? Unknown 1:50582700-50582700 - HT115 COSM2192250 c.586C>G p.L196V Substitution - Missense 1:50705857-50705857 - TCGA-CJ-5684-01 COSM464720 c.1809A>G p.V603V Substitution - coding silent 1:50475524-50475524 - B89-4-Tumor COSM1748492 c.939G>T p.A313A Substitution - coding silent 1:50584713-50584713 - TCGA-AN-A046-01 COSM3805505 c.164A>C p.E55A Substitution - Missense 1:50788203-50788203 - sysucc-834T COSM5485731 c.558G>A p.L186L Substitution - coding silent 1:50705885-50705885 - TCGA-A8-A0A6-01 COSM3805504 c.911T>G p.V304G Substitution - Missense 1:50584741-50584741 - AOCS-138-3-X COSM3944161 c.1294T>A p.F432I Substitution - Missense 1:50539703-50539703 - Z138 COSM1738597 c.40T>G p.F14V Substitution - Missense 1:50959772-50959772 - YULONE COSM5381181 c.827A>G p.E276G Substitution - Missense 1:50596134-50596134 - BN43T COSM1602520 c.895G>A p.A299T Substitution - Missense 1:50584757-50584757 - CSCC-10-T COSM3490601 c.508C>T p.L170F Substitution - Missense 1:50738906-50738906 - TCGA-AC-A23H-01 COSM3805500 c.1948G>C p.E650Q Substitution - Missense 1:50441445-50441445 - 19M COSM5578520 c.1755C>T p.F585F Substitution - coding silent 1:50475578-50475578 - TCGA-HU-A4H4-01 COSM4008706 c.1601C>T p.A534V Substitution - Missense 1:50490640-50490640 - TCGA-B0-4815-01 COSM464722 c.733A>G p.T245A Substitution - Missense 1:50655453-50655453 - BD124T COSM5189190 c.938C>T p.A313V Substitution - Missense 1:50584714-50584714 - TCGA-BR-4361-01 COSM4008711 c.29T>G p.I10S Substitution - Missense 1:50959783-50959783 - ESCC_35 COSM5628548 c.1239G>A p.W413* Substitution - Nonsense 1:50567106-50567106 - TCGA-AP-A0LM-01 COSM910508 c.445G>T p.D149Y Substitution - Missense 1:50744698-50744698 - ESCC-059T COSM3934770 c.318A>G p.E106E Substitution - coding silent 1:50788049-50788049 - J88_T COSM3977729 c.1654-4C>T p.? Unknown 1:50475683-50475683 - BD124T COSM5491116 c.1495-8delT p.? Unknown 1:50491809-50491809 - TCGA-D5-6928-01 COSM1343262 c.824G>A p.R275Q Substitution - Missense 1:50596137-50596137 - T3090 COSM4682294 c.1654-2A>G p.? Unknown 1:50475681-50475681 - PD7398a COSM3720147 c.1654-6C>T p.? Unknown 1:50475685-50475685 - pfg025T COSM1639912 c.202C>T p.P68S Substitution - Missense 1:50788165-50788165 - PTC_270 COSM5958030 c.394G>C p.E132Q Substitution - Missense 1:50744749-50744749 - TCGA-EE-A2GI-06 COSM3490599 c.1057T>A p.F353I Substitution - Missense 1:50582674-50582674 - TCGA-ER-A19W-06 COSM4398739 c.1668C>T p.S556S Substitution - coding silent 1:50475665-50475665 - ESCC_151 COSM2192229 c.1347G>A p.P449P Substitution - coding silent 1:50539650-50539650 - T3024 COSM4682296 c.1059delT p.F353fs*5 Deletion - Frameshift 1:50582672-50582672 - TCGA-FU-A5XV-01 COSM4844200 c.1173C>A p.C391* Substitution - Nonsense 1:50567172-50567172 - CSCC-5-T COSM4445910 c.967+3G>A p.? Unknown 1:50584682-50584682 - 585258 COSM320219 c.169G>T p.G57* Substitution - Nonsense 1:50788198-50788198 - YULONE COSM5381183 c.825G>A p.R275R Substitution - coding silent 1:50596136-50596136 - S02292 COSM5687202 c.1153G>T p.V385L Substitution - Missense 1:50567192-50567192 - TCGA-32-2615-01 COSM3400863 c.1406-2A>G p.? Unknown 1:50535459-50535459 - TCGA-CG-5717-01 COSM4008709 c.561G>C p.Q187H Substitution - Missense 1:50705882-50705882 - TCGA-E9-A3HO-01 COSM3805503 c.1049C>A p.P350H Substitution - Missense 1:50582682-50582682 - PD7301a COSM1638308 c.1598T>A p.M533K Substitution - Missense 1:50490643-50490643 - YURIF COSM1685494 c.1597_1598insGA p.M533fs*26 Insertion - Frameshift 1:50490643-50490644 - TCGA-D3-A3C3-06 COSM3490601 c.508C>T p.L170F Substitution - Missense 1:50738906-50738906 - 08-P054 COSM4577425 c.1140C>T p.H380H Substitution - coding silent 1:50567205-50567205 - TCGA-18-3416-01 COSM681841 c.1525A>G p.R509G Substitution - Missense 1:50491771-50491771 - CHC2216T COSM4805938 c.1129A>G p.I377V Substitution - Missense 1:50567216-50567216 - TCGA-B5-A11U-01 COSM910505 c.721C>T p.P241S Substitution - Missense 1:50655465-50655465 - TCGA-E5-A2PC-01 COSM1296546 c.1761G>A p.E587E Substitution - coding silent 1:50475572-50475572 - TCGA-CA-6717-01 COSM1343263 c.571A>C p.N191H Substitution - Missense 1:50705872-50705872 - ccRCC-49 COSM1661733 c.1145A>G p.D382G Substitution - Missense 1:50567200-50567200 - KYSE-30 COSM4239199 c.1708G>A p.A570T Substitution - Missense 1:50475625-50475625 - T2948 COSM4682295 c.1164C>T p.N388N Substitution - coding silent 1:50567181-50567181 - MINO COSM1738559 c.1420G>A p.D474N Substitution - Missense 1:50535443-50535443 - 587284 COSM1205985 c.551+2T>C p.? Unknown 1:50738861-50738861 - ESCC_143 COSM5643881 c.296G>A p.R99Q Substitution - Missense 1:50788071-50788071 - 8068611 COSM4135624 c.592A>T p.I198F Substitution - Missense 1:50705851-50705851 - TCGA-B0-4846-01 COSM3360948 c.1782C>T p.N594N Substitution - coding silent 1:50475551-50475551 - TCGA-AA-3672-01 COSM266488 c.978C>T p.N326N Substitution - coding silent 1:50583705-50583705 - TCGA-G2-A3VY-01 COSM3790112 c.1576-1G>C p.? Unknown 1:50490666-50490666 - HCC73T COSM1602521 c.101A>G p.N34S Substitution - Missense 1:50857942-50857942 - TCGA-CG-5721-01 COSM4008707 c.1030A>G p.R344G Substitution - Missense 1:50583653-50583653 - TCGA-EE-A2MD-06 COSM3490598 c.1187G>T p.C396F Substitution - Missense 1:50567158-50567158 - BN43 COSM1602520 c.895G>A p.A299T Substitution - Missense 1:50584757-50584757 - HCC120T COSM3705921 c.1031+9A>G p.? Unknown 1:50583643-50583643 - YUROC COSM5381179 c.1612C>T p.R538C Substitution - Missense 1:50490629-50490629 - SC_9061 COSM5558191 c.1784A>G p.K595R Substitution - Missense 1:50475549-50475549 - TCGA-D1-A16X-01 COSM910501 c.1755C>A p.F585L Substitution - Missense 1:50475578-50475578 - TCGA-AA-3672-01 COSM266489 c.257delC p.P86fs*2 Deletion - Frameshift 1:50788110-50788110 - RK306_C01 COSM535663 c.714G>T p.E238D Substitution - Missense 1:50655472-50655472 - TCGA-AZ-4315-01 COSM1343259 c.1805T>G p.F602C Substitution - Missense 1:50475528-50475528 - TCGA-HU-A4GN-01 COSM4008703 c.1775C>T p.A592V Substitution - Missense 1:50475558-50475558 - CSB1 COSM5025268 c.941C>T p.S314L Substitution - Missense 1:50584711-50584711 - 8015271 COSM3386228 c.1628G>A p.R543H Substitution - Missense 1:50490613-50490613 - TCGA-BR-4184-01 COSM4008708 c.947C>T p.A316V Substitution - Missense 1:50584705-50584705 - TCGA-D8-A27G-01 COSM3805502 c.1639G>C p.E547Q Substitution - Missense 1:50490602-50490602 - TCGA-QU-A6IP-01 COSM4008707 c.1030A>G p.R344G Substitution - Missense 1:50583653-50583653 - 2492729 COSM5729703 c.633C>T p.F211F Substitution - coding silent 1:50705810-50705810 - TCGA-AP-A056-01 COSM910511 c.73G>A p.E25K Substitution - Missense 1:50857970-50857970 - TCGA-AP-A056-01 COSM910503 c.1376C>A p.S459* Substitution - Nonsense 1:50539621-50539621 - sysucc-1370T COSM5470328 c.98A>T p.N33I Substitution - Missense 1:50857945-50857945 - TCGA-D1-A16X-01 COSM910502 c.1546C>T p.R516C Substitution - Missense 1:50491750-50491750 - STC297 COSM5053564 c.777C>A p.P259P Substitution - coding silent 1:50596184-50596184 - T155 COSM1176550 c.1123C>T p.L375F Substitution - Missense 1:50567222-50567222 - KPOPBR-60-T COSM5963707 c.992G>C p.G331A Substitution - Missense 1:50583691-50583691 - 12T COSM3718380 c.1371G>A p.K457K Substitution - coding silent 1:50539626-50539626 - HCC73 COSM1602521 c.101A>G p.N34S Substitution - Missense 1:50857942-50857942 - TCGA-BS-A0UV-01 COSM910509 c.368-1G>T p.? Unknown 1:50744776-50744776 - 8 COSM4166743 c.1869+1G>A p.? Unknown 1:50475463-50475463 - LN229 COSM2192263 c.177G>C p.E59D Substitution - Missense 1:50788190-50788190 - RK308_C01 COSM3741300 c.738C>T p.D246D Substitution - coding silent 1:50655448-50655448 - CSCC-5-T COSM4562994 c.951G>C p.L317F Substitution - Missense 1:50584701-50584701 - YUGATOR COSM5381179 c.1612C>T p.R538C Substitution - Missense 1:50490629-50490629 - ICGC_0046 COSM218471 c.1032-1G>C p.? Unknown 1:50582700-50582700 - C0053T COSM4165234 c.457A>T p.S153C Substitution - Missense 1:50744686-50744686 - TCGA-13-0897-01 COSM81155 c.1668C>G p.S556S Substitution - coding silent 1:50475665-50475665 - TCGA-CG-5726-01 COSM4008710 c.114+2T>C p.? Unknown 1:50857927-50857927 - Pat_41_B COSM5846926 c.539C>T p.S180F Substitution - Missense 1:50738875-50738875 - 585258 COSM320218 c.170G>T p.G57V Substitution - Missense 1:50788197-50788197 - TCGA-G3-A25S-01 COSM4926713 c.1682T>C p.L561P Substitution - Missense 1:50475651-50475651 - 587338 COSM1205984 c.1660C>T p.R554W Substitution - Missense 1:50475673-50475673 - RK225_C01 COSM4780286 c.851A>C p.D284A Substitution - Missense 1:50584801-50584801 - BD114T COSM5502240 c.33G>A p.L11L Substitution - coding silent 1:50959779-50959779 - 8057783 COSM3386228 c.1628G>A p.R543H Substitution - Missense 1:50490613-50490613 - RK306_C01 COSM4944142 c.715G>T p.G239C Substitution - Missense 1:50655471-50655471 - HN_62481 COSM122949 c.1805T>C p.F602S Substitution - Missense 1:50475528-50475528 - YURIDA COSM1687656 c.1825C>T p.P609S Substitution - Missense 1:50475508-50475508 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.530389;Hs.530398;Hs.530402 1p33 604460

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.46-37222T>C 1 51360891 CLL A G Missense p.F602S c.1805T>C 1 50941200 HNSC A G SpliceDonorSNV . c.114+2T>C 1 51323599 STAD A T Missense p.F353I c.1057T>A 1 51048346 CM C A Missense p.C396F c.1187G>T 1 51032830 CM C A Missense p.D611Y c.1831G>T 1 50941174 LUAD C A Missense p.E238D c.714G>T 1 51121144 LUAD C A Missense p.G57V c.170G>T 1 51253869 SCLC C A Nonsense p.E21* c.61G>T 1 51323654 CM C A Nonsense p.G57* c.169G>T 1 51253870 SCLC C - Frameshift p.E635Rfs*2 c.1903delG 1 50907162 LGG C G Missense p.D305H c.913G>C 1 51050411 LUAD C G SpliceAcceptorSNV . c.1032-1G>C 1 51048372 PAAD CT - Frameshift p.E510Afs*3 c.1529_1530delAG 1 50957438 CM C T IntronicSNV . c.368-2183G>A 1 51212630 CLL C T Missense p.E527K c.1579G>A 1 50956334 CM C T Missense p.R85Q c.254G>A 1 51253785 PRAD C T Nonsense p.W610* c.1830G>A 1 50941175 BRCA C T Synonymous p.E551E c.1653G>A 1 50956260 RCCC C T Synonymous p.E587E c.1761G>A 1 50941244 BLCA C T Synonymous p.L209L c.627G>A 1 51171488 BRCA GA - Frameshift p.Q641Rfs*6 c.1920_1921delTC 1 50907144 CM G A IntronicSNV . c.114+4773C>T 1 51318828 PIA G A IntronicSNV . c.1495-5999C>T 1 50963472 CLL G A IntronicSNV . c.1653+6184C>T 1 50950076 CLL G A IntronicSNV . c.1870-10605C>T 1 50917800 UCEC G A IntronicSNV . c.551+2116C>T 1 51202419 CLL G A IntronicSNV . c.552-7013C>T 1 51178576 CLL G A Missense p.L170F c.508C>T 1 51204578 CM G A Missense p.P241S c.721C>T 1 51121137 UCEC G A Missense p.P259S c.775C>T 1 51061858 CM G A Missense p.P68S c.202C>T 1 51253837 STAD G A Missense p.S314L c.941C>T 1 51050383 BRCA G A Missense p.T300I c.899C>T 1 51050425 COREAD G A Synonymous p.N594N c.1782C>T 1 50941223 RCCC G A Synonymous p.P581P c.1743C>T 1 50941262 LUAD G A Synonymous p.R516R c.1548C>T 1 50957420 LUAD G C IntronicSNV . c.367+7057C>G 1 51246615 DLBCL G C Missense p.L379V c.1135C>G 1 51032882 BRCA G C Synonymous p.S556S c.1668C>G 1 50941337 OV G T Synonymous p.R370R c.1108C>A 1 51048295 LUAD T C IntronicSNV . c.114+3389A>G 1 51320212 CLL T C Missense p.N4S c.11A>G 1 51425473 CM T C Missense p.R344G c.1030A>G 1 51049325 PRAD T C Missense p.R509G c.1525A>G 1 50957443 LUSC T C SpliceAcceptorSNV . c.1406-2A>G 1 51001131 GBM - T Frameshift p.S320Ifs*11 c.957dupA 1 51050367 HNSC T - IntronicDeletion . c.161+5285delA 1 51262018 CM