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 7 30821705 30821705 + Nonsense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr7:30821705C>G c.296C>G c.(295-297)tCa>tGa p.S99* BLCA 7 30825445 30825445 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr7:30825445C>T c.500C>T c.(499-501)aCg>aTg p.T167M BLCA 7 30831104 30831104 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr7:30831104C>G c.987C>G c.(985-987)ctC>ctG p.L329L BLCA 7 30876370 30876370 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr7:30876370C>T c.1229C>T c.(1228-1230)tCa>tTa p.S410L BLCA 7 30891838 30891838 + Silent SNP G G C TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr7:30891838G>C c.1554G>C c.(1552-1554)tcG>tcC p.S518S BLCA 7 30893019 30893019 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr7:30893019C>T c.1621C>T c.(1621-1623)Cac>Tac p.H541Y BLCA 7 30893065 30893065 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:30893065G>A c.1667G>A c.(1666-1668)aGc>aAc p.S556N BRCA 7 30818062 30818062 + Silent SNP A A C TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 g.chr7:30818062A>C c.78A>C c.(76-78)acA>acC p.T26T BRCA 7 30825399 30825399 + Missense_Mutation SNP T T A TCGA-AR-A24X-01A-11D-A167-09 TCGA-AR-A24X-10A-01D-A167-09 g.chr7:30825399T>A c.454T>A c.(454-456)Ttt>Att p.F152I BRCA 7 30830832 30830832 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:30830832A>C c.715A>C c.(715-717)Acc>Ccc p.T239P BRCA 7 30830880 30830880 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:30830880A>C c.763A>C c.(763-765)Acc>Ccc p.T255P BRCA 7 30831164 30831164 + Silent SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr7:30831164G>A c.1047G>A c.(1045-1047)cgG>cgA p.R349R BRCA 7 30876278 30876278 + Silent SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr7:30876278T>C c.1137T>C c.(1135-1137)gaT>gaC p.D379D BRCA 7 30876302 30876302 + Silent SNP A A G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 g.chr7:30876302A>G c.1161A>G c.(1159-1161)gaA>gaG p.E387E BRCA 7 30898940 30898941 + Splice_Site DEL TG TG - TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-10A-01W-A071-09 g.chr7:30898940_30898941delTG c.1745delTG c.(1744-1746)ctg>cg p.L582fs CESC 7 30898883 30898883 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 g.chr7:30898883G>A c.1688G>A c.(1687-1689)gGc>gAc p.G563D COAD 7 30811165 30811165 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:30811165G>A c.56G>A c.(55-57)aGc>aAc p.S19N COAD 7 30818126 30818126 + Nonsense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:30818126C>T c.142C>T c.(142-144)Cga>Tga p.R48* COAD 7 30818127 30818127 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:30818127G>A c.143G>A c.(142-144)cGa>cAa p.R48Q COAD 7 30818138 30818138 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:30818138C>T c.154C>T c.(154-156)Cat>Tat p.H52Y COAD 7 30825417 30825417 + Frame_Shift_Del DEL C C - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:30825417delC c.472delC c.(472-474)cccfs p.P159fs COAD 7 30825422 30825422 + Silent SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:30825422G>A c.477G>A c.(475-477)ccG>ccA p.P159P COAD 7 30825451 30825451 + Missense_Mutation SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr7:30825451C>T c.506C>T c.(505-507)cCg>cTg p.P169L COAD 7 30868343 30868343 + Silent SNP C C T TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr7:30868343C>T c.1122C>T c.(1120-1122)gcC>gcT p.A374A COAD 7 30876298 30876298 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr7:30876298G>A c.1157G>A c.(1156-1158)aGg>aAg p.R386K COAD 7 30890137 30890137 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:30890137C>T c.1513C>T c.(1513-1515)Cgg>Tgg p.R505W COAD 7 30915135 30915135 + Missense_Mutation SNP G G T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:30915135G>T c.1835G>T c.(1834-1836)gGg>gTg p.G612V COAD 7 30921962 30921962 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:30921962T>C c.2138T>C c.(2137-2139)aTc>aCc p.I713T COADREAD 7 30811165 30811165 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:30811165G>A c.56G>A c.(55-57)aGc>aAc p.S19N COADREAD 7 30818126 30818126 + Nonsense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:30818126C>T c.142C>T c.(142-144)Cga>Tga p.R48* COADREAD 7 30818127 30818127 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:30818127G>A c.143G>A c.(142-144)cGa>cAa p.R48Q COADREAD 7 30818138 30818138 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr7:30818138C>T c.154C>T c.(154-156)Cat>Tat p.H52Y COADREAD 7 30825417 30825417 + Frame_Shift_Del DEL C C - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr7:30825417delC c.472delC c.(472-474)cccfs p.P159fs COADREAD 7 30825422 30825422 + Silent SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:30825422G>A c.477G>A c.(475-477)ccG>ccA p.P159P COADREAD 7 30825451 30825451 + Missense_Mutation SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr7:30825451C>T c.506C>T c.(505-507)cCg>cTg p.P169L COADREAD 7 30830903 30830903 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:30830903G>A c.786G>A c.(784-786)tcG>tcA p.S262S COADREAD 7 30868343 30868343 + Silent SNP C C T TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr7:30868343C>T c.1122C>T c.(1120-1122)gcC>gcT p.A374A COADREAD 7 30876298 30876298 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr7:30876298G>A c.1157G>A c.(1156-1158)aGg>aAg p.R386K COADREAD 7 30890137 30890137 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:30890137C>T c.1513C>T c.(1513-1515)Cgg>Tgg p.R505W COADREAD 7 30898883 30898883 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:30898883G>A c.1688G>A c.(1687-1689)gGc>gAc p.G563D COADREAD 7 30915135 30915135 + Missense_Mutation SNP G G T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:30915135G>T c.1835G>T c.(1834-1836)gGg>gTg p.G612V COADREAD 7 30921962 30921962 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:30921962T>C c.2138T>C c.(2137-2139)aTc>aCc p.I713T DLBC 7 30818128 30818128 + Silent SNP A A G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr7:30818128A>G c.144A>G c.(142-144)cgA>cgG p.R48R DLBC 7 30818142 30818142 + Missense_Mutation SNP T T G TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr7:30818142T>G c.158T>G c.(157-159)cTt>cGt p.L53R DLBC 7 30868352 30868352 + Splice_Site SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr7:30868352C>T c.1131C>T c.(1129-1131)ctC>ctT p.L377L ESCA 7 30893033 30893033 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 g.chr7:30893033C>T c.1635C>T c.(1633-1635)tgC>tgT p.C545C ESCA 7 30915161 30915161 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr7:30915161G>A c.1861G>A c.(1861-1863)Gat>Aat p.D621N GBM 7 30830978 30830978 + Silent SNP C C T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr7:30830978C>T c.861C>T c.(859-861)gcC>gcT p.A287A GBM 7 30890151 30890151 + Silent SNP A A G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr7:30890151A>G c.1527A>G c.(1525-1527)cgA>cgG p.R509R GBM 7 30915152 30915152 + Missense_Mutation SNP G G A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 g.chr7:30915152G>A c.1852G>A c.(1852-1854)Gtt>Att p.V618I GBMLGG 7 30830978 30830978 + Silent SNP C C T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr7:30830978C>T c.861C>T c.(859-861)gcC>gcT p.A287A GBMLGG 7 30876364 30876364 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:30876364A>G c.1223A>G c.(1222-1224)gAc>gGc p.D408G GBMLGG 7 30890151 30890151 + Silent SNP A A G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr7:30890151A>G c.1527A>G c.(1525-1527)cgA>cgG p.R509R GBMLGG 7 30898919 30898919 + Missense_Mutation SNP T T C TCGA-HT-A61B-01A-11D-A29Q-08 TCGA-HT-A61B-10A-01D-A29Q-08 g.chr7:30898919T>C c.1724T>C c.(1723-1725)aTc>aCc p.I575T GBMLGG 7 30915152 30915152 + Missense_Mutation SNP G G A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 g.chr7:30915152G>A c.1852G>A c.(1852-1854)Gtt>Att p.V618I HNSC 7 30818091 30818091 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 g.chr7:30818091G>A c.107G>A c.(106-108)cGc>cAc p.R36H HNSC 7 30825451 30825451 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chr7:30825451C>T c.506C>T c.(505-507)cCg>cTg p.P169L HNSC 7 30830790 30830790 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr7:30830790C>T c.673C>T c.(673-675)Cac>Tac p.H225Y HNSC 7 30830851 30830851 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 g.chr7:30830851G>A c.734G>A c.(733-735)aGc>aAc p.S245N HNSC 7 30831154 30831154 + Missense_Mutation SNP C C T TCGA-CV-A45V-01A-21D-A25D-08 TCGA-CV-A45V-10A-01D-A25E-08 g.chr7:30831154C>T c.1037C>T c.(1036-1038)gCg>gTg p.A346V HNSC 7 30880454 30880454 + Missense_Mutation SNP G G T TCGA-CN-A49A-01A-11D-A24D-08 TCGA-CN-A49A-10A-01D-A24F-08 g.chr7:30880454G>T c.1435G>T c.(1435-1437)Gac>Tac p.D479Y HNSC 7 30890112 30890112 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 g.chr7:30890112C>T c.1488C>T c.(1486-1488)gtC>gtT p.V496V LGG 7 30876364 30876364 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:30876364A>G c.1223A>G c.(1222-1224)gAc>gGc p.D408G LGG 7 30898919 30898919 + Missense_Mutation SNP T T C TCGA-HT-A61B-01A-11D-A29Q-08 TCGA-HT-A61B-10A-01D-A29Q-08 g.chr7:30898919T>C c.1724T>C c.(1723-1725)aTc>aCc p.I575T LIHC 7 30821784 30821784 + Silent SNP A A G TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr7:30821784A>G c.375A>G c.(373-375)gaA>gaG p.E125E LIHC 7 30921896 30921896 + Missense_Mutation SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr7:30921896A>G c.2072A>G c.(2071-2073)gAc>gGc p.D691G LUAD 7 30821598 30821598 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 g.chr7:30821598G>T c.189G>T c.(187-189)aaG>aaT p.K63N LUAD 7 30825406 30825406 + Missense_Mutation SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr7:30825406C>T c.461C>T c.(460-462)tCa>tTa p.S154L LUAD 7 30825465 30825465 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr7:30825465G>A c.520G>A c.(520-522)Gtg>Atg p.V174M LUAD 7 30830815 30830815 + Missense_Mutation SNP C C T TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr7:30830815C>T c.698C>T c.(697-699)tCa>tTa p.S233L LUAD 7 30830881 30830881 + Missense_Mutation SNP C C T TCGA-55-6972-01A-11D-1945-08 TCGA-55-6972-11A-01D-1945-08 g.chr7:30830881C>T c.764C>T c.(763-765)aCc>aTc p.T255I LUAD 7 30831131 30831131 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chr7:30831131G>C c.1014G>C c.(1012-1014)atG>atC p.M338I LUAD 7 30868293 30868293 + Splice_Site SNP A A T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:30868293A>T c.e6-1 LUAD 7 30890076 30890076 + Silent SNP G G A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr7:30890076G>A c.1452G>A c.(1450-1452)ctG>ctA p.L484L LUAD 7 30890106 30890106 + Silent SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr7:30890106C>T c.1482C>T c.(1480-1482)tgC>tgT p.C494C LUAD 7 30915112 30915112 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr7:30915112A>G c.1812A>G c.(1810-1812)gaA>gaG p.E604E LUAD 7 30915196 30915196 + Silent SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr7:30915196C>T c.1896C>T c.(1894-1896)atC>atT p.I632I LUAD 7 30915236 30915236 + Missense_Mutation SNP T T G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 g.chr7:30915236T>G c.1936T>G c.(1936-1938)Ttc>Gtc p.F646V LUAD 7 30931580 30931580 + Missense_Mutation SNP G G C TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr7:30931580G>C c.2234G>C c.(2233-2235)gGg>gCg p.G745A LUAD 7 30931616 30931616 + Missense_Mutation SNP T T A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr7:30931616T>A c.2270T>A c.(2269-2271)cTg>cAg p.L757Q LUSC 7 30818085 30818085 + Missense_Mutation SNP G G T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr7:30818085G>T c.101G>T c.(100-102)cGc>cTc p.R34L LUSC 7 30830854 30830854 + Missense_Mutation SNP G G A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr7:30830854G>A c.737G>A c.(736-738)cGg>cAg p.R246Q LUSC 7 30831042 30831042 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:30831042C>T c.925C>T c.(925-927)Ccc>Tcc p.P309S LUSC 7 30831048 30831048 + Nonsense_Mutation SNP G G T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr7:30831048G>T c.931G>T c.(931-933)Gag>Tag p.E311* LUSC 7 30831179 30831179 + Silent SNP C C T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr7:30831179C>T c.1062C>T c.(1060-1062)ccC>ccT p.P354P LUSC 7 30868295 30868295 + Splice_Site SNP G G A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chr7:30868295G>A c.1074G>A c.(1072-1074)agG>agA p.R358R LUSC 7 30890105 30890105 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr7:30890105G>A c.1481G>A c.(1480-1482)tGc>tAc p.C494Y LUSC 7 30893027 30893027 + Missense_Mutation SNP G G T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr7:30893027G>T c.1629G>T c.(1627-1629)ttG>ttT p.L543F LUSC 7 30915170 30915170 + Nonsense_Mutation SNP G G T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr7:30915170G>T c.1870G>T c.(1870-1872)Gag>Tag p.E624* LUSC 7 30921895 30921895 + Missense_Mutation SNP G G T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr7:30921895G>T c.2071G>T c.(2071-2073)Gac>Tac p.D691Y PAAD 7 30825421 30825421 + Missense_Mutation SNP C C A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr7:30825421C>A c.476C>A c.(475-477)cCg>cAg p.P159Q PAAD 7 30876373 30876373 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:30876373T>C c.1232T>C c.(1231-1233)gTa>gCa p.V411A PRAD 7 30818114 30818114 + Missense_Mutation SNP A A G TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 g.chr7:30818114A>G c.130A>G c.(130-132)Aga>Gga p.R44G PRAD 7 30821758 30821758 + Missense_Mutation SNP G G C TCGA-EJ-A65F-01A-21D-A30X-08 TCGA-EJ-A65F-10A-01D-A30X-08 g.chr7:30821758G>C c.349G>C c.(349-351)Gta>Cta p.V117L PRAD 7 30825445 30825445 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 g.chr7:30825445C>T c.500C>T c.(499-501)aCg>aTg p.T167M READ 7 30830903 30830903 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:30830903G>A c.786G>A c.(784-786)tcG>tcA p.S262S READ 7 30898883 30898883 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:30898883G>A c.1688G>A c.(1687-1689)gGc>gAc p.G563D SARC 7 30911898 30911898 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr7:30911898G>A c.1786G>A c.(1786-1788)Gga>Aga p.G596R SARC 7 30921893 30921893 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 g.chr7:30921893G>A c.2069G>A c.(2068-2070)cGt>cAt p.R690H SKCM 7 30821653 30821653 + Missense_Mutation SNP T T G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr7:30821653T>G c.244T>G c.(244-246)Ttt>Gtt p.F82V SKCM 7 30821777 30821777 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr7:30821777C>T c.368C>T c.(367-369)tCa>tTa p.S123L SKCM 7 30825437 30825437 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr7:30825437C>T c.492C>T c.(490-492)ccC>ccT p.P164P SKCM 7 30830929 30830929 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:30830929C>T c.812C>T c.(811-813)tCc>tTc p.S271F SKCM 7 30830930 30830930 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:30830930C>T c.813C>T c.(811-813)tcC>tcT p.S271S SKCM 7 30831043 30831043 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:30831043C>T c.926C>T c.(925-927)cCc>cTc p.P309L SKCM 7 30831093 30831093 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr7:30831093C>A c.976C>A c.(976-978)Ccc>Acc p.P326T SKCM 7 30831094 30831094 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr7:30831094C>T c.977C>T c.(976-978)cCc>cTc p.P326L SKCM 7 30876318 30876318 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr7:30876318C>T c.1177C>T c.(1177-1179)Cca>Tca p.P393S SKCM 7 30880418 30880418 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr7:30880418C>T c.1399C>T c.(1399-1401)Cta>Tta p.L467L SKCM 7 30880436 30880436 + Missense_Mutation SNP G G A TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr7:30880436G>A c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K SKCM 7 30891837 30891837 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr7:30891837C>T c.1553C>T c.(1552-1554)tCg>tTg p.S518L SKCM 7 30898886 30898886 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:30898886C>T c.1691C>T c.(1690-1692)cCc>cTc p.P564L SKCM 7 30898925 30898925 + Missense_Mutation SNP C C T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr7:30898925C>T c.1730C>T c.(1729-1731)tCc>tTc p.S577F SKCM 7 30911861 30911861 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr7:30911861C>T c.1749C>T c.(1747-1749)atC>atT p.I583I SKCM 7 30915203 30915203 + Missense_Mutation SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr7:30915203C>T c.1903C>T c.(1903-1905)Ctc>Ttc p.L635F SKCM 7 30921964 30921964 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr7:30921964C>T c.2140C>T c.(2140-2142)Cgg>Tgg p.R714W SKCM 7 30922585 30922585 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr7:30922585C>T c.2202C>T c.(2200-2202)ccC>ccT p.P734P SKCM 7 30931614 30931614 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:30931614C>T c.2268C>T c.(2266-2268)atC>atT p.I756I

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 7 30915263 30915263 single base substitution A G exon_variant BLCA-CN 7 30915263 30915263 single base substitution A G missense_variant M655V 1963A>G BLCA-US 7 30831104 30831104 single base substitution C G downstream_gene_variant BLCA-US 7 30831104 30831104 single base substitution C G synonymous_variant L329L 987C>G BLCA-US 7 30876370 30876370 single base substitution C T missense_variant S410L 1229C>T BLCA-US 7 30891838 30891838 single base substitution G C synonymous_variant S518S 1554G>C BOCA-FR 7 30854876 30854876 single base substitution G A intron_variant BOCA-UK 7 30880425 30880425 single base substitution A G missense_variant K469R 1406A>G BRCA-EU 7 30807729 30807729 single base substitution C A upstream_gene_variant BRCA-EU 7 30807922 30807922 single base substitution C G upstream_gene_variant BRCA-EU 7 30808055 30808055 single base substitution T C upstream_gene_variant BRCA-EU 7 30809623 30809623 single base substitution C T upstream_gene_variant BRCA-EU 7 30811015 30811015 single base substitution C G upstream_gene_variant BRCA-EU 7 30814414 30814414 single base substitution C T intron_variant BRCA-EU 7 30814414 30814414 single base substitution C T upstream_gene_variant BRCA-EU 7 30815794 30815794 single base substitution T C intron_variant BRCA-EU 7 30815794 30815794 single base substitution T C upstream_gene_variant BRCA-EU 7 30816824 30816824 single base substitution G A intron_variant BRCA-EU 7 30816824 30816824 single base substitution G A upstream_gene_variant BRCA-EU 7 30816906 30816906 single base substitution C A intron_variant BRCA-EU 7 30816906 30816906 single base substitution C A upstream_gene_variant BRCA-EU 7 30817170 30817170 single base substitution C T intron_variant BRCA-EU 7 30817170 30817170 single base substitution C T upstream_gene_variant BRCA-EU 7 30817256 30817256 single base substitution G A intron_variant BRCA-EU 7 30817256 30817256 single base substitution G A upstream_gene_variant BRCA-EU 7 30818123 30818123 single base substitution C A missense_variant L47I 139C>A BRCA-EU 7 30818123 30818123 single base substitution C A upstream_gene_variant BRCA-EU 7 30818721 30818721 deletion of <=200bp G - intron_variant BRCA-EU 7 30818721 30818721 deletion of <=200bp G - upstream_gene_variant BRCA-EU 7 30820459 30820459 single base substitution C G exon_variant BRCA-EU 7 30820459 30820459 single base substitution C G intron_variant BRCA-EU 7 30821211 30821211 single base substitution G T exon_variant BRCA-EU 7 30821211 30821211 single base substitution G T intron_variant BRCA-EU 7 30821554 30821554 single base substitution T C exon_variant BRCA-EU 7 30821554 30821554 single base substitution T C intron_variant BRCA-EU 7 30821765 30821765 single base substitution T C exon_variant BRCA-EU 7 30821765 30821765 single base substitution T C missense_variant I119T 356T>C BRCA-EU 7 30822721 30822721 single base substitution C T intron_variant BRCA-EU 7 30823403 30823403 single base substitution C A intron_variant BRCA-EU 7 30824057 30824057 single base substitution C G intron_variant BRCA-EU 7 30825559 30825559 single base substitution G C exon_variant BRCA-EU 7 30825559 30825559 single base substitution G C missense_variant G205A 614G>C BRCA-EU 7 30826621 30826621 single base substitution T A downstream_gene_variant BRCA-EU 7 30826621 30826621 single base substitution T A intron_variant BRCA-EU 7 30826637 30826637 single base substitution G T downstream_gene_variant BRCA-EU 7 30826637 30826637 single base substitution G T intron_variant BRCA-EU 7 30827206 30827206 single base substitution G C downstream_gene_variant BRCA-EU 7 30827206 30827206 single base substitution G C intron_variant BRCA-EU 7 30827926 30827926 single base substitution G T downstream_gene_variant BRCA-EU 7 30827926 30827926 single base substitution G T intron_variant BRCA-EU 7 30828702 30828702 single base substitution C T downstream_gene_variant BRCA-EU 7 30828702 30828702 single base substitution C T intron_variant BRCA-EU 7 30830790 30830790 single base substitution C T downstream_gene_variant BRCA-EU 7 30830790 30830790 single base substitution C T missense_variant H225Y 673C>T BRCA-EU 7 30831114 30831114 single base substitution G T downstream_gene_variant BRCA-EU 7 30831114 30831114 single base substitution G T missense_variant G333C 997G>T BRCA-EU 7 30831760 30831760 single base substitution C G intron_variant BRCA-EU 7 30831971 30831971 single base substitution C G intron_variant BRCA-EU 7 30832489 30832489 single base substitution T C intron_variant BRCA-EU 7 30835411 30835411 single base substitution C T intron_variant BRCA-EU 7 30835741 30835741 single base substitution T A intron_variant BRCA-EU 7 30837422 30837422 single base substitution T A intron_variant BRCA-EU 7 30839464 30839464 single base substitution G T intron_variant BRCA-EU 7 30839698 30839698 single base substitution G C intron_variant BRCA-EU 7 30840546 30840546 single base substitution T C intron_variant BRCA-EU 7 30840608 30840608 single base substitution C G intron_variant BRCA-EU 7 30842347 30842347 single base substitution T G intron_variant BRCA-EU 7 30847037 30847037 single base substitution G C intron_variant BRCA-EU 7 30848676 30848676 deletion of <=200bp A - intron_variant BRCA-EU 7 30850422 30850422 single base substitution A C intron_variant BRCA-EU 7 30850974 30850974 single base substitution C A intron_variant BRCA-EU 7 30851491 30851491 single base substitution G A intron_variant BRCA-EU 7 30852429 30852429 single base substitution C T intron_variant BRCA-EU 7 30855400 30855400 single base substitution C T intron_variant BRCA-EU 7 30856332 30856332 single base substitution C A intron_variant BRCA-EU 7 30857023 30857023 deletion of <=200bp T - intron_variant BRCA-EU 7 30858080 30858080 single base substitution T C intron_variant BRCA-EU 7 30858447 30858447 single base substitution C G intron_variant BRCA-EU 7 30859031 30859031 single base substitution T C intron_variant BRCA-EU 7 30859975 30859979 deletion of <=200bp TCTTT - intron_variant BRCA-EU 7 30860686 30860686 deletion of <=200bp A - intron_variant BRCA-EU 7 30861019 30861019 single base substitution C G intron_variant BRCA-EU 7 30861023 30861023 single base substitution C T intron_variant BRCA-EU 7 30861332 30861332 single base substitution T C intron_variant BRCA-EU 7 30861473 30861473 single base substitution T A intron_variant BRCA-EU 7 30862181 30862181 insertion of <=200bp - T intron_variant BRCA-EU 7 30862513 30862513 single base substitution G A intron_variant BRCA-EU 7 30863833 30863833 single base substitution G A intron_variant BRCA-EU 7 30863992 30863992 single base substitution C G intron_variant BRCA-EU 7 30863999 30863999 single base substitution T C intron_variant BRCA-EU 7 30864144 30864144 single base substitution T G intron_variant BRCA-EU 7 30867460 30867460 single base substitution T C intron_variant BRCA-EU 7 30867479 30867479 single base substitution G T intron_variant BRCA-EU 7 30867492 30867492 single base substitution A C intron_variant BRCA-EU 7 30869704 30869704 single base substitution G T intron_variant BRCA-EU 7 30870125 30870125 single base substitution G A intron_variant BRCA-EU 7 30870772 30870772 single base substitution T G intron_variant BRCA-EU 7 30870946 30870946 single base substitution C G intron_variant BRCA-EU 7 30871069 30871069 single base substitution G C intron_variant BRCA-EU 7 30872776 30872776 single base substitution C G intron_variant BRCA-EU 7 30873621 30873621 single base substitution G A intron_variant BRCA-EU 7 30873632 30873632 single base substitution C G intron_variant BRCA-EU 7 30878464 30878464 single base substitution A G intron_variant BRCA-EU 7 30879051 30879051 single base substitution A C intron_variant BRCA-EU 7 30880389 30880389 single base substitution G A missense_variant G457E 1370G>A BRCA-EU 7 30880768 30880768 single base substitution C T intron_variant BRCA-EU 7 30881251 30881251 single base substitution T A intron_variant BRCA-EU 7 30881890 30881890 single base substitution C G intron_variant BRCA-EU 7 30883534 30883534 single base substitution T A intron_variant BRCA-EU 7 30883536 30883536 single base substitution A C intron_variant BRCA-EU 7 30884390 30884390 single base substitution G T intron_variant BRCA-EU 7 30888940 30888940 single base substitution C T intron_variant BRCA-EU 7 30889146 30889146 single base substitution G T intron_variant BRCA-EU 7 30889558 30889559 deletion of <=200bp CT - intron_variant BRCA-EU 7 30890493 30890493 single base substitution C G intron_variant BRCA-EU 7 30891677 30891677 single base substitution C G intron_variant BRCA-EU 7 30891910 30891910 deletion of <=200bp A - intron_variant BRCA-EU 7 30892861 30892861 single base substitution C G intron_variant BRCA-EU 7 30892861 30892861 single base substitution C G upstream_gene_variant BRCA-EU 7 30894606 30894606 single base substitution G A intron_variant BRCA-EU 7 30894606 30894606 single base substitution G A upstream_gene_variant BRCA-EU 7 30894693 30894693 deletion of <=200bp G - intron_variant BRCA-EU 7 30894693 30894693 deletion of <=200bp G - upstream_gene_variant BRCA-EU 7 30895532 30895532 single base substitution C T intron_variant BRCA-EU 7 30895532 30895532 single base substitution C T upstream_gene_variant BRCA-EU 7 30895542 30895542 single base substitution C T intron_variant BRCA-EU 7 30895542 30895542 single base substitution C T upstream_gene_variant BRCA-EU 7 30895873 30895873 single base substitution T C intron_variant BRCA-EU 7 30895873 30895873 single base substitution T C upstream_gene_variant BRCA-EU 7 30898747 30898747 single base substitution A T exon_variant BRCA-EU 7 30898747 30898747 single base substitution A T intron_variant BRCA-EU 7 30900709 30900709 single base substitution C T intron_variant BRCA-EU 7 30900976 30900976 single base substitution C G intron_variant BRCA-EU 7 30901442 30901442 single base substitution T G intron_variant BRCA-EU 7 30902894 30902894 single base substitution G C intron_variant BRCA-EU 7 30903067 30903067 single base substitution G T intron_variant BRCA-EU 7 30903400 30903400 insertion of <=200bp - T intron_variant BRCA-EU 7 30904137 30904137 single base substitution T C intron_variant BRCA-EU 7 30904687 30904687 single base substitution C T intron_variant BRCA-EU 7 30905949 30905949 single base substitution C G intron_variant BRCA-EU 7 30906673 30906673 single base substitution C G intron_variant BRCA-EU 7 30907623 30907623 single base substitution G A intron_variant BRCA-EU 7 30908385 30908385 single base substitution A T intron_variant BRCA-EU 7 30908453 30908453 single base substitution T C intron_variant BRCA-EU 7 30909109 30909109 single base substitution C G intron_variant BRCA-EU 7 30910558 30910558 single base substitution G A intron_variant BRCA-EU 7 30911157 30911157 single base substitution C T intron_variant BRCA-EU 7 30912033 30912033 single base substitution C T intron_variant BRCA-EU 7 30912808 30912808 single base substitution G C intron_variant BRCA-EU 7 30912916 30912916 single base substitution G A intron_variant BRCA-EU 7 30915540 30915540 single base substitution A G intron_variant BRCA-EU 7 30917398 30917398 single base substitution T C intron_variant BRCA-EU 7 30919006 30919006 single base substitution C T intron_variant BRCA-EU 7 30919174 30919177 deletion of <=200bp CTCT - intron_variant BRCA-EU 7 30919238 30919238 single base substitution C A intron_variant BRCA-EU 7 30919713 30919713 single base substitution T G intron_variant BRCA-EU 7 30921264 30921264 single base substitution G A intron_variant BRCA-EU 7 30922467 30922467 single base substitution G C intron_variant BRCA-EU 7 30925096 30925096 single base substitution C G intron_variant BRCA-EU 7 30925125 30925125 single base substitution C G intron_variant BRCA-EU 7 30928076 30928076 single base substitution C T intron_variant BRCA-EU 7 30930160 30930161 deletion of <=200bp GA - intron_variant BRCA-EU 7 30931877 30931877 single base substitution C A 3_prime_UTR_variant BRCA-EU 7 30931877 30931877 single base substitution C A exon_variant BRCA-EU 7 30935352 30935352 single base substitution T C downstream_gene_variant BRCA-EU 7 30936012 30936012 single base substitution G A downstream_gene_variant BRCA-FR 7 30807922 30807922 single base substitution C G upstream_gene_variant BRCA-FR 7 30843727 30843727 single base substitution C G intron_variant BRCA-FR 7 30867479 30867479 single base substitution G T intron_variant BRCA-FR 7 30873632 30873632 single base substitution C G intron_variant BRCA-FR 7 30880389 30880389 single base substitution G A missense_variant G457E 1370G>A BRCA-FR 7 30891677 30891677 single base substitution C G intron_variant BRCA-FR 7 30896296 30896296 single base substitution G C intron_variant BRCA-FR 7 30896296 30896296 single base substitution G C upstream_gene_variant BRCA-FR 7 30898487 30898487 single base substitution C T exon_variant BRCA-FR 7 30898487 30898487 single base substitution C T intron_variant BRCA-FR 7 30908735 30908735 single base substitution C T intron_variant BRCA-FR 7 30909109 30909109 single base substitution C G intron_variant BRCA-FR 7 30919006 30919006 single base substitution C T intron_variant BRCA-FR 7 30919713 30919713 single base substitution T G intron_variant BRCA-FR 7 30925096 30925096 single base substitution C G intron_variant BRCA-FR 7 30928076 30928076 single base substitution C T intron_variant BRCA-FR 7 30929010 30929010 single base substitution G A intron_variant BRCA-FR 7 30936012 30936012 single base substitution G A downstream_gene_variant BRCA-UK 7 30808055 30808055 single base substitution T C upstream_gene_variant BRCA-UK 7 30831878 30831878 single base substitution C A intron_variant BRCA-UK 7 30835411 30835411 single base substitution C T intron_variant BRCA-UK 7 30872776 30872776 single base substitution C G intron_variant BRCA-US 7 30818062 30818062 single base substitution A C synonymous_variant T26T 78A>C BRCA-US 7 30818062 30818062 single base substitution A C upstream_gene_variant BRCA-US 7 30825399 30825399 single base substitution T A exon_variant BRCA-US 7 30825399 30825399 single base substitution T A missense_variant F152I 454T>A BRCA-US 7 30830832 30830832 single base substitution A C downstream_gene_variant BRCA-US 7 30830832 30830832 single base substitution A C missense_variant T239P 715A>C BRCA-US 7 30830880 30830880 single base substitution A C downstream_gene_variant BRCA-US 7 30830880 30830880 single base substitution A C missense_variant T255P 763A>C BRCA-US 7 30831164 30831164 single base substitution G A downstream_gene_variant BRCA-US 7 30831164 30831164 single base substitution G A synonymous_variant R349R 1047G>A BRCA-US 7 30876278 30876278 single base substitution T C synonymous_variant D379D 1137T>C BRCA-US 7 30876302 30876302 single base substitution A G synonymous_variant E387E 1161A>G BRCA-US 7 30898940 30898941 deletion of <=200bp TG - frameshift_variant L582 BRCA-US 7 30898940 30898941 deletion of <=200bp TG - splice_donor_variant BTCA-JP 7 30898766 30898766 single base substitution T C exon_variant BTCA-JP 7 30898766 30898766 single base substitution T C intron_variant BTCA-JP 7 30922572 30922572 single base substitution A T exon_variant BTCA-JP 7 30922572 30922572 single base substitution A T missense_variant D730V 2189A>T BTCA-JP 7 30922706 30922706 single base substitution C A intron_variant CESC-US 7 30898883 30898883 single base substitution G A exon_variant CESC-US 7 30898883 30898883 single base substitution G A missense_variant G563D 1688G>A CLLE-ES 7 30835947 30835947 single base substitution G A intron_variant CLLE-ES 7 30841393 30841393 single base substitution G A intron_variant CLLE-ES 7 30870698 30870698 single base substitution G A intron_variant CLLE-ES 7 30883497 30883497 single base substitution A T intron_variant CLLE-ES 7 30890193 30890193 single base substitution G A intron_variant CLLE-ES 7 30894963 30894963 single base substitution C G intron_variant CLLE-ES 7 30894963 30894963 single base substitution C G upstream_gene_variant CLLE-ES 7 30900917 30900917 single base substitution G A intron_variant CLLE-ES 7 30904602 30904602 single base substitution G A intron_variant CLLE-ES 7 30910857 30910857 single base substitution C A intron_variant COAD-US 7 30811165 30811165 single base substitution G A missense_variant S19N 56G>A COAD-US 7 30818138 30818138 single base substitution C T missense_variant H52Y 154C>T COAD-US 7 30818138 30818138 single base substitution C T upstream_gene_variant COAD-US 7 30825422 30825422 single base substitution G A exon_variant COAD-US 7 30825422 30825422 single base substitution G A synonymous_variant P159P 477G>A COAD-US 7 30890161 30890161 single base substitution G A missense_variant V513I 1537G>A COAD-US 7 30921962 30921962 single base substitution T C exon_variant COAD-US 7 30921962 30921962 single base substitution T C missense_variant I713T 2138T>C COCA-CN 7 30807057 30807057 single base substitution T C upstream_gene_variant COCA-CN 7 30812611 30812611 single base substitution A C intron_variant COCA-CN 7 30818190 30818190 single base substitution T G intron_variant COCA-CN 7 30818190 30818190 single base substitution T G upstream_gene_variant COCA-CN 7 30819119 30819119 single base substitution A T intron_variant COCA-CN 7 30819119 30819119 single base substitution A T upstream_gene_variant COCA-CN 7 30825266 30825266 single base substitution T C intron_variant COCA-CN 7 30826246 30826246 single base substitution G A exon_variant COCA-CN 7 30826246 30826246 single base substitution G A intron_variant COCA-CN 7 30829845 30829845 single base substitution A T downstream_gene_variant COCA-CN 7 30829845 30829845 single base substitution A T intron_variant COCA-CN 7 30831406 30831406 single base substitution C G intron_variant COCA-CN 7 30853003 30853003 single base substitution C T intron_variant COCA-CN 7 30853248 30853248 single base substitution G T intron_variant COCA-CN 7 30858417 30858417 single base substitution G A intron_variant COCA-CN 7 30861794 30861794 single base substitution C T intron_variant COCA-CN 7 30862238 30862238 single base substitution G A intron_variant COCA-CN 7 30862240 30862240 single base substitution C T intron_variant COCA-CN 7 30864755 30864755 single base substitution C T intron_variant COCA-CN 7 30865765 30865765 single base substitution T C intron_variant COCA-CN 7 30868734 30868734 single base substitution A G intron_variant COCA-CN 7 30868908 30868908 single base substitution C T intron_variant COCA-CN 7 30877400 30877400 single base substitution C T intron_variant COCA-CN 7 30879980 30879980 single base substitution G C intron_variant COCA-CN 7 30880628 30880628 single base substitution C G intron_variant COCA-CN 7 30880629 30880629 single base substitution A G intron_variant COCA-CN 7 30888538 30888538 single base substitution C T intron_variant COCA-CN 7 30892044 30892044 single base substitution A G intron_variant COCA-CN 7 30892987 30892987 single base substitution C T intron_variant COCA-CN 7 30892987 30892987 single base substitution C T upstream_gene_variant COCA-CN 7 30896535 30896535 single base substitution T C intron_variant COCA-CN 7 30896535 30896535 single base substitution T C upstream_gene_variant COCA-CN 7 30898270 30898270 single base substitution T A exon_variant COCA-CN 7 30898270 30898270 single base substitution T A intron_variant COCA-CN 7 30915296 30915296 single base substitution C T intron_variant COCA-CN 7 30917295 30917295 single base substitution C T intron_variant COCA-CN 7 30917784 30917784 single base substitution G A intron_variant COCA-CN 7 30919909 30919909 single base substitution T C intron_variant COCA-CN 7 30919917 30919917 single base substitution A C intron_variant COCA-CN 7 30931394 30931394 single base substitution C T intron_variant COCA-CN 7 30932653 30932653 single base substitution C G downstream_gene_variant COCA-CN 7 30933453 30933453 single base substitution T A downstream_gene_variant EOPC-DE 7 30831528 30831528 single base substitution T C intron_variant EOPC-DE 7 30864373 30864373 single base substitution G A intron_variant EOPC-DE 7 30886978 30886978 single base substitution C T intron_variant ESAD-UK 7 30807757 30807778 deletion of <=200bp CCCATTCAGAGGAAAAGCCAAG - upstream_gene_variant ESAD-UK 7 30807895 30807895 single base substitution G A upstream_gene_variant ESAD-UK 7 30808633 30808633 single base substitution T C upstream_gene_variant ESAD-UK 7 30815426 30815426 single base substitution T C intron_variant ESAD-UK 7 30815426 30815426 single base substitution T C upstream_gene_variant ESAD-UK 7 30819119 30819119 single base substitution A T intron_variant ESAD-UK 7 30819119 30819119 single base substitution A T upstream_gene_variant ESAD-UK 7 30819976 30819976 single base substitution T C exon_variant ESAD-UK 7 30819976 30819976 single base substitution T C intron_variant ESAD-UK 7 30820608 30820608 single base substitution T C exon_variant ESAD-UK 7 30820608 30820608 single base substitution T C intron_variant ESAD-UK 7 30823419 30823419 single base substitution T C intron_variant ESAD-UK 7 30823636 30823636 single base substitution C G intron_variant ESAD-UK 7 30824528 30824528 single base substitution G A intron_variant ESAD-UK 7 30825784 30825784 single base substitution G A exon_variant ESAD-UK 7 30825784 30825784 single base substitution G A intron_variant ESAD-UK 7 30826610 30826610 single base substitution C T downstream_gene_variant ESAD-UK 7 30826610 30826610 single base substitution C T intron_variant ESAD-UK 7 30833958 30833958 single base substitution G A intron_variant ESAD-UK 7 30834653 30834653 single base substitution C A intron_variant ESAD-UK 7 30835740 30835740 single base substitution T A intron_variant ESAD-UK 7 30835741 30835741 single base substitution T A intron_variant ESAD-UK 7 30840678 30840678 single base substitution G A intron_variant ESAD-UK 7 30845341 30845341 single base substitution A G intron_variant ESAD-UK 7 30847961 30847961 single base substitution G T intron_variant ESAD-UK 7 30849414 30849415 deletion of <=200bp GA - intron_variant ESAD-UK 7 30850139 30850139 single base substitution A G intron_variant ESAD-UK 7 30855302 30855312 deletion of <=200bp ATTTTTCTCTC - intron_variant ESAD-UK 7 30856540 30856540 single base substitution G C intron_variant ESAD-UK 7 30858120 30858120 single base substitution C T intron_variant ESAD-UK 7 30859029 30859029 single base substitution A G intron_variant ESAD-UK 7 30860573 30860573 insertion of <=200bp - T intron_variant ESAD-UK 7 30860686 30860686 deletion of <=200bp A - intron_variant ESAD-UK 7 30862220 30862220 single base substitution G A intron_variant ESAD-UK 7 30862958 30862958 single base substitution T C intron_variant ESAD-UK 7 30863434 30863434 deletion of <=200bp A - intron_variant ESAD-UK 7 30864945 30864945 single base substitution G A intron_variant ESAD-UK 7 30869846 30869846 single base substitution C A intron_variant ESAD-UK 7 30871012 30871012 single base substitution T G intron_variant ESAD-UK 7 30872129 30872129 insertion of <=200bp - T intron_variant ESAD-UK 7 30874588 30874588 single base substitution A G intron_variant ESAD-UK 7 30875346 30875346 single base substitution C G intron_variant ESAD-UK 7 30877230 30877230 single base substitution C T intron_variant ESAD-UK 7 30877868 30877868 single base substitution G C intron_variant ESAD-UK 7 30878717 30878717 single base substitution C T intron_variant ESAD-UK 7 30879061 30879061 single base substitution G C intron_variant ESAD-UK 7 30881139 30881139 single base substitution C T intron_variant ESAD-UK 7 30881252 30881252 single base substitution A T intron_variant ESAD-UK 7 30882147 30882147 insertion of <=200bp - A intron_variant ESAD-UK 7 30882285 30882285 single base substitution G A intron_variant ESAD-UK 7 30883968 30883968 single base substitution C T intron_variant ESAD-UK 7 30884040 30884040 single base substitution C G intron_variant ESAD-UK 7 30884646 30884646 single base substitution G A intron_variant ESAD-UK 7 30884803 30884803 single base substitution G A intron_variant ESAD-UK 7 30886357 30886357 single base substitution G T intron_variant ESAD-UK 7 30887189 30887189 single base substitution C A intron_variant ESAD-UK 7 30887991 30887991 single base substitution C T intron_variant ESAD-UK 7 30888126 30888126 single base substitution G C intron_variant ESAD-UK 7 30889280 30889280 single base substitution G T intron_variant ESAD-UK 7 30891106 30891106 single base substitution C T intron_variant ESAD-UK 7 30891999 30891999 single base substitution C G intron_variant ESAD-UK 7 30892049 30892049 single base substitution C T intron_variant ESAD-UK 7 30894918 30894918 single base substitution C T intron_variant ESAD-UK 7 30894918 30894918 single base substitution C T upstream_gene_variant ESAD-UK 7 30903146 30903146 single base substitution G T intron_variant ESAD-UK 7 30903296 30903296 single base substitution G A intron_variant ESAD-UK 7 30905037 30905037 deletion of <=200bp G - intron_variant ESAD-UK 7 30906049 30906049 single base substitution G A intron_variant ESAD-UK 7 30907373 30907373 single base substitution G A intron_variant ESAD-UK 7 30910069 30910069 single base substitution G A intron_variant ESAD-UK 7 30910070 30910070 single base substitution C A intron_variant ESAD-UK 7 30912753 30912753 single base substitution T G intron_variant ESAD-UK 7 30914052 30914052 single base substitution C T intron_variant ESAD-UK 7 30916015 30916015 single base substitution A G intron_variant ESAD-UK 7 30920734 30920734 single base substitution G T intron_variant ESAD-UK 7 30920796 30920796 single base substitution C T intron_variant ESAD-UK 7 30923477 30923477 single base substitution G T intron_variant ESAD-UK 7 30924905 30924905 single base substitution C T intron_variant ESAD-UK 7 30924928 30924928 single base substitution A G intron_variant ESAD-UK 7 30925041 30925041 single base substitution C T intron_variant ESAD-UK 7 30925164 30925164 single base substitution A C intron_variant ESAD-UK 7 30927149 30927149 single base substitution G A intron_variant ESAD-UK 7 30927159 30927159 single base substitution G C intron_variant ESAD-UK 7 30935231 30935231 single base substitution A T downstream_gene_variant ESAD-UK 7 30935514 30935514 single base substitution C A downstream_gene_variant ESAD-UK 7 30935514 30935514 single base substitution C T downstream_gene_variant ESCA-CN 7 30922001 30922001 single base substitution A C intron_variant GBM-US 7 30830978 30830978 single base substitution C T downstream_gene_variant GBM-US 7 30830978 30830978 single base substitution C T synonymous_variant A287A 861C>T GBM-US 7 30890151 30890151 single base substitution A G synonymous_variant R509R 1527A>G GBM-US 7 30915152 30915152 single base substitution G A exon_variant GBM-US 7 30915152 30915152 single base substitution G A missense_variant V618I 1852G>A KIRC-US 7 30931623 30931623 single base substitution G A 3_prime_UTR_variant KIRC-US 7 30931623 30931623 single base substitution G A exon_variant LAML-KR 7 30807079 30807079 single base substitution C T upstream_gene_variant LICA-CN 7 30821593 30821593 single base substitution G T exon_variant LICA-CN 7 30821593 30821593 single base substitution G T missense_variant A62S 184G>T LICA-CN 7 30831026 30831026 single base substitution G A downstream_gene_variant LICA-CN 7 30831026 30831026 single base substitution G A synonymous_variant R303R 909G>A LICA-FR 7 30807079 30807079 single base substitution C T upstream_gene_variant LICA-FR 7 30813324 30813324 single base substitution T A intron_variant LICA-FR 7 30825415 30825415 single base substitution G A exon_variant LICA-FR 7 30825415 30825415 single base substitution G A missense_variant R157K 470G>A LICA-FR 7 30827329 30827329 single base substitution G T downstream_gene_variant LICA-FR 7 30827329 30827329 single base substitution G T intron_variant LICA-FR 7 30827330 30827330 single base substitution G T downstream_gene_variant LICA-FR 7 30827330 30827330 single base substitution G T intron_variant LICA-FR 7 30848673 30848673 single base substitution A G intron_variant LICA-FR 7 30893593 30893593 insertion of <=200bp - C intron_variant LICA-FR 7 30893593 30893593 insertion of <=200bp - C upstream_gene_variant LICA-FR 7 30906333 30906333 single base substitution A T intron_variant LICA-FR 7 30911857 30911857 single base substitution G A splice_acceptor_variant LICA-FR 7 30913360 30913360 single base substitution C G intron_variant LICA-FR 7 30931581 30931581 single base substitution G A exon_variant LICA-FR 7 30931581 30931581 single base substitution G A synonymous_variant G745G 2235G>A LICA-FR 7 30931613 30931613 single base substitution T C exon_variant LICA-FR 7 30931613 30931613 single base substitution T C missense_variant I756T 2267T>C LICA-FR 7 30933542 30933542 single base substitution G T downstream_gene_variant LIHC-US 7 30821784 30821784 single base substitution A G exon_variant LIHC-US 7 30821784 30821784 single base substitution A G synonymous_variant E125E 375A>G LINC-JP 7 30811189 30811189 single base substitution T C intron_variant LINC-JP 7 30848109 30848109 single base substitution G A intron_variant LINC-JP 7 30868020 30868020 single base substitution A G intron_variant LINC-JP 7 30871809 30871809 single base substitution T C intron_variant LINC-JP 7 30878916 30878916 single base substitution G A missense_variant G447D 1340G>A LINC-JP 7 30882439 30882439 single base substitution C T intron_variant LINC-JP 7 30887747 30887747 single base substitution G T intron_variant LINC-JP 7 30890137 30890137 single base substitution C T missense_variant R505W 1513C>T LINC-JP 7 30914206 30914206 single base substitution A G intron_variant LINC-JP 7 30914989 30914989 single base substitution G T intron_variant LINC-JP 7 30919006 30919006 single base substitution C G intron_variant LINC-JP 7 30933853 30933853 single base substitution G T downstream_gene_variant LINC-JP 7 30933855 30933855 single base substitution G T downstream_gene_variant LIRI-JP 7 30808988 30808988 single base substitution C T upstream_gene_variant LIRI-JP 7 30810161 30810161 single base substitution A T upstream_gene_variant LIRI-JP 7 30812029 30812029 single base substitution A C intron_variant LIRI-JP 7 30814483 30814483 single base substitution T C intron_variant LIRI-JP 7 30814483 30814483 single base substitution T C upstream_gene_variant LIRI-JP 7 30817515 30817515 single base substitution T C intron_variant LIRI-JP 7 30817515 30817515 single base substitution T C upstream_gene_variant LIRI-JP 7 30817574 30817574 single base substitution A C intron_variant LIRI-JP 7 30817574 30817574 single base substitution A C upstream_gene_variant LIRI-JP 7 30819229 30819229 single base substitution C G exon_variant LIRI-JP 7 30819229 30819229 single base substitution C G intron_variant LIRI-JP 7 30819724 30819724 single base substitution A G exon_variant LIRI-JP 7 30819724 30819724 single base substitution A G intron_variant LIRI-JP 7 30819894 30819894 single base substitution G C exon_variant LIRI-JP 7 30819894 30819894 single base substitution G C intron_variant LIRI-JP 7 30823527 30823527 single base substitution G T intron_variant LIRI-JP 7 30823651 30823651 single base substitution A C intron_variant LIRI-JP 7 30824084 30824084 single base substitution C G intron_variant LIRI-JP 7 30827877 30827877 single base substitution A C downstream_gene_variant LIRI-JP 7 30827877 30827877 single base substitution A C intron_variant LIRI-JP 7 30835715 30835715 single base substitution A G intron_variant LIRI-JP 7 30836650 30836650 single base substitution C A intron_variant LIRI-JP 7 30839655 30839655 single base substitution G A intron_variant LIRI-JP 7 30840163 30840163 single base substitution G A intron_variant LIRI-JP 7 30841094 30841094 single base substitution A C intron_variant LIRI-JP 7 30841500 30841500 single base substitution G T intron_variant LIRI-JP 7 30841802 30841802 single base substitution C T intron_variant LIRI-JP 7 30843246 30843246 single base substitution A G intron_variant LIRI-JP 7 30843650 30843650 single base substitution C T intron_variant LIRI-JP 7 30845300 30845300 single base substitution C T intron_variant LIRI-JP 7 30845548 30845548 single base substitution G C intron_variant LIRI-JP 7 30847654 30847654 single base substitution T C intron_variant LIRI-JP 7 30850029 30850029 single base substitution A C intron_variant LIRI-JP 7 30853426 30853426 single base substitution A T intron_variant LIRI-JP 7 30858176 30858176 single base substitution A T intron_variant LIRI-JP 7 30858645 30858645 single base substitution T A intron_variant LIRI-JP 7 30859382 30859382 single base substitution A T intron_variant LIRI-JP 7 30859808 30859808 single base substitution C T intron_variant LIRI-JP 7 30860661 30860661 single base substitution C T intron_variant LIRI-JP 7 30861724 30861724 single base substitution C T intron_variant LIRI-JP 7 30862159 30862159 single base substitution C A intron_variant LIRI-JP 7 30864004 30864004 single base substitution G T intron_variant LIRI-JP 7 30865069 30865069 single base substitution C T intron_variant LIRI-JP 7 30865520 30865520 single base substitution A G intron_variant LIRI-JP 7 30867340 30867340 single base substitution C T intron_variant LIRI-JP 7 30868766 30868766 single base substitution A G intron_variant LIRI-JP 7 30868930 30868930 single base substitution A G intron_variant LIRI-JP 7 30870490 30870490 single base substitution A T intron_variant LIRI-JP 7 30871457 30871457 single base substitution T C intron_variant LIRI-JP 7 30872541 30872541 single base substitution A G intron_variant LIRI-JP 7 30875956 30875956 single base substitution C T intron_variant LIRI-JP 7 30876423 30876423 single base substitution A C intron_variant LIRI-JP 7 30877361 30877361 single base substitution A G intron_variant LIRI-JP 7 30878906 30878906 single base substitution T G missense_variant L444V 1330T>G LIRI-JP 7 30879510 30879510 single base substitution A G intron_variant LIRI-JP 7 30880388 30880388 single base substitution G T stop_gained G457* 1369G>T LIRI-JP 7 30880436 30880436 single base substitution G A missense_variant E473K 1417G>A LIRI-JP 7 30883074 30883074 single base substitution G C intron_variant LIRI-JP 7 30887612 30887612 single base substitution A G intron_variant LIRI-JP 7 30889078 30889078 single base substitution G A intron_variant LIRI-JP 7 30892992 30892992 single base substitution G A intron_variant LIRI-JP 7 30892992 30892992 single base substitution G A upstream_gene_variant LIRI-JP 7 30893034 30893034 single base substitution T C missense_variant Y546H 1636T>C LIRI-JP 7 30893034 30893034 single base substitution T C upstream_gene_variant LIRI-JP 7 30893152 30893153 deletion of <=200bp CT - intron_variant LIRI-JP 7 30893152 30893153 deletion of <=200bp CT - upstream_gene_variant LIRI-JP 7 30894511 30894511 single base substitution A T intron_variant LIRI-JP 7 30894511 30894511 single base substitution A T upstream_gene_variant LIRI-JP 7 30895973 30895973 single base substitution A G intron_variant LIRI-JP 7 30895973 30895973 single base substitution A G upstream_gene_variant LIRI-JP 7 30896661 30896661 single base substitution C T intron_variant LIRI-JP 7 30896661 30896661 single base substitution C T upstream_gene_variant LIRI-JP 7 30902315 30902315 single base substitution G T intron_variant LIRI-JP 7 30903597 30903597 single base substitution C A intron_variant LIRI-JP 7 30904835 30904835 single base substitution G A intron_variant LIRI-JP 7 30908571 30908571 single base substitution G T intron_variant LIRI-JP 7 30909319 30909319 single base substitution A G intron_variant LIRI-JP 7 30909842 30909842 single base substitution C T intron_variant LIRI-JP 7 30911920 30911920 single base substitution A G missense_variant Q603R 1808A>G LIRI-JP 7 30911920 30911920 single base substitution A G splice_region_variant LIRI-JP 7 30912900 30912900 single base substitution C T intron_variant LIRI-JP 7 30913180 30913180 single base substitution C A intron_variant LIRI-JP 7 30913673 30913673 single base substitution A T intron_variant LIRI-JP 7 30914540 30914540 single base substitution G T intron_variant LIRI-JP 7 30923459 30923459 single base substitution C T intron_variant LIRI-JP 7 30924636 30924636 single base substitution G T intron_variant LIRI-JP 7 30924787 30924787 single base substitution T C intron_variant LIRI-JP 7 30925333 30925333 single base substitution A C intron_variant LIRI-JP 7 30925461 30925461 single base substitution A G intron_variant LIRI-JP 7 30926101 30926101 single base substitution G T intron_variant LIRI-JP 7 30926102 30926102 single base substitution G T intron_variant LIRI-JP 7 30928052 30928052 single base substitution C T intron_variant LIRI-JP 7 30929397 30929397 single base substitution G A intron_variant LIRI-JP 7 30934499 30934517 deletion of <=200bp CCTGGGGGTCAGAGCTGGG - downstream_gene_variant LIRI-JP 7 30936516 30936516 single base substitution A G downstream_gene_variant LIRI-JP 7 30936800 30936800 single base substitution C G downstream_gene_variant LUSC-KR 7 30807079 30807079 single base substitution C T upstream_gene_variant LUSC-KR 7 30808491 30808491 single base substitution G C upstream_gene_variant LUSC-KR 7 30815660 30815660 single base substitution C A intron_variant LUSC-KR 7 30815660 30815660 single base substitution C A upstream_gene_variant LUSC-KR 7 30816064 30816064 single base substitution C T intron_variant LUSC-KR 7 30816064 30816064 single base substitution C T upstream_gene_variant LUSC-KR 7 30822781 30822781 single base substitution G T intron_variant LUSC-KR 7 30824795 30824795 single base substitution A G intron_variant LUSC-KR 7 30825575 30825575 single base substitution C A exon_variant LUSC-KR 7 30825575 30825575 single base substitution C A synonymous_variant G210G 630C>A LUSC-KR 7 30827626 30827626 single base substitution A G downstream_gene_variant LUSC-KR 7 30827626 30827626 single base substitution A G intron_variant LUSC-KR 7 30831144 30831144 single base substitution C T downstream_gene_variant LUSC-KR 7 30831144 30831144 single base substitution C T synonymous_variant L343L 1027C>T LUSC-KR 7 30831923 30831923 single base substitution G T intron_variant LUSC-KR 7 30832651 30832651 single base substitution A T intron_variant LUSC-KR 7 30835898 30835898 single base substitution A G intron_variant LUSC-KR 7 30835948 30835948 single base substitution G A intron_variant LUSC-KR 7 30837703 30837703 single base substitution G A intron_variant LUSC-KR 7 30843570 30843570 single base substitution G T intron_variant LUSC-KR 7 30846626 30846626 single base substitution T A intron_variant LUSC-KR 7 30849814 30849814 single base substitution G A intron_variant LUSC-KR 7 30850471 30850471 single base substitution A T intron_variant LUSC-KR 7 30853301 30853301 single base substitution A T intron_variant LUSC-KR 7 30858195 30858195 single base substitution A G intron_variant LUSC-KR 7 30864675 30864675 single base substitution C A intron_variant LUSC-KR 7 30865216 30865216 single base substitution C G intron_variant LUSC-KR 7 30873269 30873269 single base substitution A G intron_variant LUSC-KR 7 30876123 30876123 single base substitution G A intron_variant LUSC-KR 7 30877796 30877796 single base substitution A G intron_variant LUSC-KR 7 30879248 30879248 single base substitution G T intron_variant LUSC-KR 7 30880649 30880649 single base substitution G C intron_variant LUSC-KR 7 30880862 30880862 single base substitution C T intron_variant LUSC-KR 7 30881151 30881151 single base substitution G T intron_variant LUSC-KR 7 30882746 30882746 single base substitution G C intron_variant LUSC-KR 7 30888791 30888791 single base substitution G T intron_variant LUSC-KR 7 30889378 30889378 single base substitution A T intron_variant LUSC-KR 7 30894596 30894596 single base substitution G T intron_variant LUSC-KR 7 30894596 30894596 single base substitution G T upstream_gene_variant LUSC-KR 7 30906891 30906891 single base substitution C T intron_variant LUSC-KR 7 30912023 30912023 single base substitution T C intron_variant LUSC-KR 7 30916266 30916266 single base substitution A G intron_variant LUSC-KR 7 30918231 30918231 single base substitution G T intron_variant LUSC-KR 7 30918232 30918232 single base substitution G T intron_variant LUSC-KR 7 30918704 30918704 single base substitution G A intron_variant LUSC-KR 7 30921982 30921982 single base substitution G T splice_region_variant LUSC-KR 7 30922467 30922467 single base substitution G C intron_variant LUSC-KR 7 30922478 30922478 single base substitution C G intron_variant LUSC-KR 7 30926797 30926797 single base substitution T C intron_variant LUSC-KR 7 30927431 30927431 single base substitution G C intron_variant LUSC-KR 7 30932608 30932608 single base substitution A T downstream_gene_variant LUSC-KR 7 30933661 30933661 single base substitution A G downstream_gene_variant LUSC-US 7 30818085 30818085 single base substitution G T missense_variant R34L 101G>T LUSC-US 7 30818085 30818085 single base substitution G T upstream_gene_variant LUSC-US 7 30830854 30830854 single base substitution G A downstream_gene_variant LUSC-US 7 30830854 30830854 single base substitution G A missense_variant R246Q 737G>A LUSC-US 7 30831042 30831042 single base substitution C T downstream_gene_variant LUSC-US 7 30831042 30831042 single base substitution C T missense_variant P309S 925C>T LUSC-US 7 30831048 30831048 single base substitution G T downstream_gene_variant LUSC-US 7 30831048 30831048 single base substitution G T stop_gained E311* 931G>T LUSC-US 7 30831179 30831179 single base substitution C T downstream_gene_variant LUSC-US 7 30831179 30831179 single base substitution C T synonymous_variant P354P 1062C>T LUSC-US 7 30868295 30868295 single base substitution G A splice_region_variant LUSC-US 7 30890105 30890105 single base substitution G A missense_variant C494Y 1481G>A LUSC-US 7 30893027 30893027 single base substitution G T missense_variant L543F 1629G>T LUSC-US 7 30893027 30893027 single base substitution G T upstream_gene_variant LUSC-US 7 30915170 30915170 single base substitution G T exon_variant LUSC-US 7 30915170 30915170 single base substitution G T stop_gained E624* 1870G>T LUSC-US 7 30921895 30921895 single base substitution G T exon_variant LUSC-US 7 30921895 30921895 single base substitution G T missense_variant D691Y 2071G>T MALY-DE 7 30817199 30817199 single base substitution C A intron_variant MALY-DE 7 30817199 30817199 single base substitution C A upstream_gene_variant MALY-DE 7 30824106 30824106 single base substitution C T intron_variant MALY-DE 7 30827265 30827265 single base substitution T C downstream_gene_variant MALY-DE 7 30827265 30827265 single base substitution T C intron_variant MALY-DE 7 30838283 30838283 single base substitution T C intron_variant MALY-DE 7 30841497 30841497 single base substitution C T intron_variant MALY-DE 7 30847794 30847794 single base substitution G A intron_variant MALY-DE 7 30850262 30850262 single base substitution T C intron_variant MALY-DE 7 30857052 30857052 single base substitution C T intron_variant MALY-DE 7 30858609 30858609 insertion of <=200bp - T intron_variant MALY-DE 7 30862244 30862244 insertion of <=200bp - TTTA intron_variant MALY-DE 7 30863037 30863037 single base substitution G A intron_variant MALY-DE 7 30867446 30867446 single base substitution T C intron_variant MALY-DE 7 30877383 30877383 single base substitution C G intron_variant MALY-DE 7 30887615 30887615 single base substitution G T intron_variant MALY-DE 7 30888610 30888610 single base substitution C T intron_variant MALY-DE 7 30890731 30890731 single base substitution G A intron_variant MALY-DE 7 30892782 30892782 single base substitution C T intron_variant MALY-DE 7 30892782 30892782 single base substitution C T upstream_gene_variant MALY-DE 7 30898254 30898254 single base substitution G T exon_variant MALY-DE 7 30898254 30898254 single base substitution G T intron_variant MALY-DE 7 30899201 30899201 single base substitution G T intron_variant MALY-DE 7 30906800 30906800 single base substitution C T intron_variant MALY-DE 7 30933579 30933579 single base substitution C A downstream_gene_variant MALY-DE 7 30935210 30935210 single base substitution C T downstream_gene_variant MELA-AU 7 30806196 30806196 single base substitution C T upstream_gene_variant MELA-AU 7 30806272 30806275 deletion of <=200bp TTGG - upstream_gene_variant MELA-AU 7 30806337 30806337 single base substitution C T upstream_gene_variant MELA-AU 7 30806533 30806533 single base substitution T G upstream_gene_variant MELA-AU 7 30806675 30806675 single base substitution A G upstream_gene_variant MELA-AU 7 30806783 30806783 single base substitution C T upstream_gene_variant MELA-AU 7 30806800 30806800 single base substitution G A upstream_gene_variant MELA-AU 7 30807003 30807003 single base substitution G A upstream_gene_variant MELA-AU 7 30807172 30807172 single base substitution C T upstream_gene_variant MELA-AU 7 30807698 30807698 single base substitution C T upstream_gene_variant MELA-AU 7 30808658 30808658 single base substitution G A upstream_gene_variant MELA-AU 7 30808779 30808779 single base substitution G A upstream_gene_variant MELA-AU 7 30809573 30809573 single base substitution G A upstream_gene_variant MELA-AU 7 30809932 30809932 single base substitution C T upstream_gene_variant MELA-AU 7 30810951 30810951 single base substitution C T upstream_gene_variant MELA-AU 7 30810965 30810965 single base substitution C T upstream_gene_variant MELA-AU 7 30811096 30811096 single base substitution C T 5_prime_UTR_variant MELA-AU 7 30811121 30811121 single base substitution C G synonymous_variant L4L 12C>G MELA-AU 7 30812523 30812523 single base substitution G A intron_variant MELA-AU 7 30812572 30812572 single base substitution C T intron_variant MELA-AU 7 30812677 30812677 single base substitution C T intron_variant MELA-AU 7 30812740 30812740 single base substitution C T intron_variant MELA-AU 7 30813000 30813000 single base substitution C T intron_variant MELA-AU 7 30813100 30813100 single base substitution C T intron_variant MELA-AU 7 30813698 30813698 single base substitution C T intron_variant MELA-AU 7 30814232 30814232 single base substitution C T intron_variant MELA-AU 7 30814232 30814232 single base substitution C T upstream_gene_variant MELA-AU 7 30814485 30814485 single base substitution C T intron_variant MELA-AU 7 30814485 30814485 single base substitution C T upstream_gene_variant MELA-AU 7 30814753 30814753 single base substitution C T intron_variant MELA-AU 7 30814753 30814753 single base substitution C T upstream_gene_variant MELA-AU 7 30814892 30814892 single base substitution A G intron_variant MELA-AU 7 30814892 30814892 single base substitution A G upstream_gene_variant MELA-AU 7 30815093 30815093 single base substitution C T intron_variant MELA-AU 7 30815093 30815093 single base substitution C T upstream_gene_variant MELA-AU 7 30815119 30815119 single base substitution A G intron_variant MELA-AU 7 30815119 30815119 single base substitution A G upstream_gene_variant MELA-AU 7 30815253 30815253 single base substitution C T intron_variant MELA-AU 7 30815253 30815253 single base substitution C T upstream_gene_variant MELA-AU 7 30815585 30815585 single base substitution C T intron_variant MELA-AU 7 30815585 30815585 single base substitution C T upstream_gene_variant MELA-AU 7 30815833 30815833 single base substitution C T intron_variant MELA-AU 7 30815833 30815833 single base substitution C T upstream_gene_variant MELA-AU 7 30815956 30815956 single base substitution C T intron_variant MELA-AU 7 30815956 30815956 single base substitution C T upstream_gene_variant MELA-AU 7 30816118 30816118 single base substitution C T intron_variant MELA-AU 7 30816118 30816118 single base substitution C T upstream_gene_variant MELA-AU 7 30816147 30816147 single base substitution C T intron_variant MELA-AU 7 30816147 30816147 single base substitution C T upstream_gene_variant MELA-AU 7 30817109 30817109 single base substitution C T intron_variant MELA-AU 7 30817109 30817109 single base substitution C T upstream_gene_variant MELA-AU 7 30817283 30817283 single base substitution C T intron_variant MELA-AU 7 30817283 30817283 single base substitution C T upstream_gene_variant MELA-AU 7 30817341 30817341 single base substitution C T intron_variant MELA-AU 7 30817341 30817341 single base substitution C T upstream_gene_variant MELA-AU 7 30817462 30817462 single base substitution C T intron_variant MELA-AU 7 30817462 30817462 single base substitution C T upstream_gene_variant MELA-AU 7 30817685 30817685 single base substitution C T intron_variant MELA-AU 7 30817685 30817685 single base substitution C T upstream_gene_variant MELA-AU 7 30818126 30818126 single base substitution C T stop_gained R48* 142C>T MELA-AU 7 30818126 30818126 single base substitution C T upstream_gene_variant MELA-AU 7 30818695 30818696 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30818695 30818696 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 30819738 30819738 single base substitution C T exon_variant MELA-AU 7 30819738 30819738 single base substitution C T intron_variant MELA-AU 7 30819991 30819991 single base substitution C T exon_variant MELA-AU 7 30819991 30819991 single base substitution C T intron_variant MELA-AU 7 30820049 30820049 single base substitution C T exon_variant MELA-AU 7 30820049 30820049 single base substitution C T intron_variant MELA-AU 7 30820283 30820283 single base substitution A G exon_variant MELA-AU 7 30820283 30820283 single base substitution A G intron_variant MELA-AU 7 30820483 30820483 single base substitution C T exon_variant MELA-AU 7 30820483 30820483 single base substitution C T intron_variant MELA-AU 7 30820529 30820529 single base substitution T C exon_variant MELA-AU 7 30820529 30820529 single base substitution T C intron_variant MELA-AU 7 30820719 30820719 single base substitution A C exon_variant MELA-AU 7 30820719 30820719 single base substitution A C intron_variant MELA-AU 7 30820827 30820827 single base substitution C T exon_variant MELA-AU 7 30820827 30820827 single base substitution C T intron_variant MELA-AU 7 30820931 30820931 single base substitution T G exon_variant MELA-AU 7 30820931 30820931 single base substitution T G intron_variant MELA-AU 7 30820990 30820990 single base substitution G A exon_variant MELA-AU 7 30820990 30820990 single base substitution G A intron_variant MELA-AU 7 30821231 30821231 single base substitution C T exon_variant MELA-AU 7 30821231 30821231 single base substitution C T intron_variant MELA-AU 7 30821416 30821416 single base substitution C T exon_variant MELA-AU 7 30821416 30821416 single base substitution C T intron_variant MELA-AU 7 30821578 30821578 single base substitution C T exon_variant MELA-AU 7 30821578 30821578 single base substitution C T intron_variant MELA-AU 7 30821584 30821584 single base substitution C T exon_variant MELA-AU 7 30821584 30821584 single base substitution C T intron_variant MELA-AU 7 30821838 30821838 single base substitution C T intron_variant MELA-AU 7 30821839 30821839 single base substitution C T intron_variant MELA-AU 7 30822427 30822427 single base substitution G A intron_variant MELA-AU 7 30822499 30822499 single base substitution G A intron_variant MELA-AU 7 30822796 30822796 single base substitution C T intron_variant MELA-AU 7 30822946 30822946 single base substitution C T intron_variant MELA-AU 7 30822993 30822993 single base substitution G A intron_variant MELA-AU 7 30823016 30823016 single base substitution C T intron_variant MELA-AU 7 30823313 30823313 single base substitution C T intron_variant MELA-AU 7 30823646 30823646 single base substitution C T intron_variant MELA-AU 7 30823661 30823661 single base substitution C T intron_variant MELA-AU 7 30823666 30823666 single base substitution C T intron_variant MELA-AU 7 30823667 30823667 single base substitution C T intron_variant MELA-AU 7 30823788 30823788 single base substitution C T intron_variant MELA-AU 7 30824007 30824007 single base substitution C T intron_variant MELA-AU 7 30824098 30824098 single base substitution C T intron_variant MELA-AU 7 30825058 30825058 single base substitution C T intron_variant MELA-AU 7 30825417 30825417 single base substitution C T exon_variant MELA-AU 7 30825417 30825417 single base substitution C T missense_variant P158S 472C>T MELA-AU 7 30825907 30825907 single base substitution C T exon_variant MELA-AU 7 30825907 30825907 single base substitution C T intron_variant MELA-AU 7 30826703 30826703 single base substitution C T downstream_gene_variant MELA-AU 7 30826703 30826703 single base substitution C T intron_variant MELA-AU 7 30826864 30826864 single base substitution C T downstream_gene_variant MELA-AU 7 30826864 30826864 single base substitution C T intron_variant MELA-AU 7 30827297 30827297 single base substitution A C downstream_gene_variant MELA-AU 7 30827297 30827297 single base substitution A C intron_variant MELA-AU 7 30827393 30827394 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 30827393 30827394 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30828651 30828651 single base substitution C T downstream_gene_variant MELA-AU 7 30828651 30828651 single base substitution C T intron_variant MELA-AU 7 30828873 30828873 single base substitution G A downstream_gene_variant MELA-AU 7 30828873 30828873 single base substitution G A intron_variant MELA-AU 7 30829146 30829146 single base substitution G A downstream_gene_variant MELA-AU 7 30829146 30829146 single base substitution G A intron_variant MELA-AU 7 30829336 30829336 single base substitution G A downstream_gene_variant MELA-AU 7 30829336 30829336 single base substitution G A intron_variant MELA-AU 7 30829437 30829437 single base substitution C T downstream_gene_variant MELA-AU 7 30829437 30829437 single base substitution C T intron_variant MELA-AU 7 30829465 30829465 single base substitution C T downstream_gene_variant MELA-AU 7 30829465 30829465 single base substitution C T intron_variant MELA-AU 7 30829466 30829466 single base substitution C T downstream_gene_variant MELA-AU 7 30829466 30829466 single base substitution C T intron_variant MELA-AU 7 30829529 30829529 single base substitution C T downstream_gene_variant MELA-AU 7 30829529 30829529 single base substitution C T intron_variant MELA-AU 7 30829650 30829650 single base substitution C T downstream_gene_variant MELA-AU 7 30829650 30829650 single base substitution C T intron_variant MELA-AU 7 30829733 30829733 single base substitution T G downstream_gene_variant MELA-AU 7 30829733 30829733 single base substitution T G intron_variant MELA-AU 7 30830286 30830286 single base substitution C T downstream_gene_variant MELA-AU 7 30830286 30830286 single base substitution C T intron_variant MELA-AU 7 30830307 30830307 single base substitution C T downstream_gene_variant MELA-AU 7 30830307 30830307 single base substitution C T intron_variant MELA-AU 7 30830645 30830645 single base substitution T A downstream_gene_variant MELA-AU 7 30830645 30830645 single base substitution T A intron_variant MELA-AU 7 30830914 30830914 single base substitution C T downstream_gene_variant MELA-AU 7 30830914 30830914 single base substitution C T missense_variant S266F 797C>T MELA-AU 7 30830920 30830920 single base substitution C T downstream_gene_variant MELA-AU 7 30830920 30830920 single base substitution C T missense_variant S268F 803C>T MELA-AU 7 30831281 30831281 single base substitution C T intron_variant MELA-AU 7 30831939 30831939 single base substitution T C intron_variant MELA-AU 7 30831966 30831966 single base substitution C T intron_variant MELA-AU 7 30832109 30832109 single base substitution C T intron_variant MELA-AU 7 30832775 30832775 single base substitution A T intron_variant MELA-AU 7 30833229 30833229 single base substitution G A intron_variant MELA-AU 7 30833405 30833405 single base substitution A C intron_variant MELA-AU 7 30833803 30833803 single base substitution C T intron_variant MELA-AU 7 30833813 30833813 single base substitution C T intron_variant MELA-AU 7 30833821 30833821 single base substitution C T intron_variant MELA-AU 7 30834619 30834620 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30834717 30834717 single base substitution C T intron_variant MELA-AU 7 30834741 30834741 single base substitution T A intron_variant MELA-AU 7 30835023 30835023 single base substitution A G intron_variant MELA-AU 7 30835144 30835145 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30835322 30835322 single base substitution C T intron_variant MELA-AU 7 30835924 30835924 single base substitution C T intron_variant MELA-AU 7 30836433 30836433 single base substitution A G intron_variant MELA-AU 7 30836497 30836497 single base substitution C T intron_variant MELA-AU 7 30836994 30836994 single base substitution C T intron_variant MELA-AU 7 30838197 30838197 single base substitution C T intron_variant MELA-AU 7 30838330 30838331 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30838465 30838465 single base substitution C T intron_variant MELA-AU 7 30838665 30838665 single base substitution C T intron_variant MELA-AU 7 30838873 30838873 single base substitution T A intron_variant MELA-AU 7 30839040 30839040 single base substitution C T intron_variant MELA-AU 7 30839077 30839077 single base substitution G A intron_variant MELA-AU 7 30839556 30839556 single base substitution C T intron_variant MELA-AU 7 30839888 30839888 single base substitution C T intron_variant MELA-AU 7 30840352 30840352 single base substitution G A intron_variant MELA-AU 7 30841236 30841236 single base substitution G A intron_variant MELA-AU 7 30841405 30841405 single base substitution C T intron_variant MELA-AU 7 30841421 30841421 single base substitution C T intron_variant MELA-AU 7 30841543 30841543 single base substitution C T intron_variant MELA-AU 7 30842126 30842127 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30842270 30842270 single base substitution G A intron_variant MELA-AU 7 30842321 30842321 single base substitution G A intron_variant MELA-AU 7 30842452 30842452 single base substitution C T intron_variant MELA-AU 7 30842978 30842978 single base substitution G A intron_variant MELA-AU 7 30843541 30843541 single base substitution C T intron_variant MELA-AU 7 30844316 30844316 single base substitution G A intron_variant MELA-AU 7 30844377 30844377 single base substitution C T intron_variant MELA-AU 7 30844871 30844871 single base substitution G A intron_variant MELA-AU 7 30845398 30845398 single base substitution G A intron_variant MELA-AU 7 30846067 30846067 single base substitution C T intron_variant MELA-AU 7 30846269 30846269 single base substitution C T intron_variant MELA-AU 7 30846966 30846966 single base substitution C T intron_variant MELA-AU 7 30847108 30847108 single base substitution C T intron_variant MELA-AU 7 30847399 30847399 single base substitution C T intron_variant MELA-AU 7 30847433 30847433 single base substitution C T intron_variant MELA-AU 7 30848335 30848335 single base substitution C T intron_variant MELA-AU 7 30848539 30848539 single base substitution G A intron_variant MELA-AU 7 30848961 30848961 single base substitution G A intron_variant MELA-AU 7 30849071 30849071 single base substitution G A intron_variant MELA-AU 7 30849220 30849220 single base substitution C T intron_variant MELA-AU 7 30849548 30849548 single base substitution C T intron_variant MELA-AU 7 30849589 30849589 single base substitution C T intron_variant MELA-AU 7 30850172 30850172 single base substitution C T intron_variant MELA-AU 7 30850259 30850259 single base substitution G A intron_variant MELA-AU 7 30850404 30850404 single base substitution C T intron_variant MELA-AU 7 30850533 30850533 single base substitution C T intron_variant MELA-AU 7 30851343 30851343 single base substitution C T intron_variant MELA-AU 7 30851541 30851541 single base substitution C T intron_variant MELA-AU 7 30851645 30851645 single base substitution C T intron_variant MELA-AU 7 30851738 30851738 single base substitution C G intron_variant MELA-AU 7 30851789 30851789 single base substitution G A intron_variant MELA-AU 7 30851894 30851894 single base substitution G C intron_variant MELA-AU 7 30851896 30851896 single base substitution G C intron_variant MELA-AU 7 30852006 30852006 single base substitution C T intron_variant MELA-AU 7 30852179 30852179 single base substitution C T intron_variant MELA-AU 7 30852465 30852465 single base substitution C T intron_variant MELA-AU 7 30852867 30852867 single base substitution C A intron_variant MELA-AU 7 30852978 30852978 single base substitution C T intron_variant MELA-AU 7 30853320 30853320 single base substitution C T intron_variant MELA-AU 7 30853432 30853432 single base substitution C T intron_variant MELA-AU 7 30853794 30853794 single base substitution C A intron_variant MELA-AU 7 30853841 30853841 single base substitution G A intron_variant MELA-AU 7 30854135 30854135 single base substitution A T intron_variant MELA-AU 7 30854140 30854140 single base substitution A T intron_variant MELA-AU 7 30854565 30854565 single base substitution C T intron_variant MELA-AU 7 30854839 30854839 single base substitution C T intron_variant MELA-AU 7 30854937 30854937 single base substitution G A intron_variant MELA-AU 7 30855202 30855202 single base substitution G A intron_variant MELA-AU 7 30855552 30855552 single base substitution C T intron_variant MELA-AU 7 30855661 30855661 single base substitution C T intron_variant MELA-AU 7 30856056 30856056 single base substitution G A intron_variant MELA-AU 7 30856448 30856448 single base substitution C T intron_variant MELA-AU 7 30857269 30857269 single base substitution C T intron_variant MELA-AU 7 30857718 30857718 single base substitution C T intron_variant MELA-AU 7 30858206 30858206 single base substitution G A intron_variant MELA-AU 7 30858860 30858860 single base substitution T A intron_variant MELA-AU 7 30859327 30859327 single base substitution C T intron_variant MELA-AU 7 30859379 30859379 single base substitution C T intron_variant MELA-AU 7 30860445 30860445 single base substitution C T intron_variant MELA-AU 7 30860462 30860463 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30861237 30861237 single base substitution C T intron_variant MELA-AU 7 30861293 30861293 single base substitution C T intron_variant MELA-AU 7 30861714 30861714 single base substitution T A intron_variant MELA-AU 7 30861973 30861973 single base substitution G A intron_variant MELA-AU 7 30862197 30862197 single base substitution G T intron_variant MELA-AU 7 30862205 30862205 single base substitution C T intron_variant MELA-AU 7 30862249 30862249 single base substitution T C intron_variant MELA-AU 7 30862624 30862624 single base substitution C T intron_variant MELA-AU 7 30863097 30863097 single base substitution C T intron_variant MELA-AU 7 30863429 30863429 single base substitution G A intron_variant MELA-AU 7 30863624 30863624 single base substitution G A intron_variant MELA-AU 7 30863730 30863730 single base substitution G T intron_variant MELA-AU 7 30864070 30864070 single base substitution T G intron_variant MELA-AU 7 30864172 30864172 single base substitution G A intron_variant MELA-AU 7 30864593 30864593 single base substitution C T intron_variant MELA-AU 7 30864892 30864892 single base substitution C T intron_variant MELA-AU 7 30864945 30864945 single base substitution G C intron_variant MELA-AU 7 30867112 30867112 single base substitution C G intron_variant MELA-AU 7 30867177 30867177 single base substitution C T intron_variant MELA-AU 7 30867380 30867380 single base substitution C T intron_variant MELA-AU 7 30867468 30867468 single base substitution C T intron_variant MELA-AU 7 30867495 30867495 single base substitution T A intron_variant MELA-AU 7 30868090 30868090 single base substitution C T intron_variant MELA-AU 7 30868149 30868149 single base substitution G A intron_variant MELA-AU 7 30868214 30868214 single base substitution C T intron_variant MELA-AU 7 30868697 30868697 single base substitution C T intron_variant MELA-AU 7 30868873 30868873 single base substitution C T intron_variant MELA-AU 7 30868912 30868912 single base substitution C T intron_variant MELA-AU 7 30868989 30868989 single base substitution G T intron_variant MELA-AU 7 30869630 30869630 single base substitution C T intron_variant MELA-AU 7 30870151 30870151 single base substitution C T intron_variant MELA-AU 7 30870198 30870198 single base substitution C T intron_variant MELA-AU 7 30870495 30870495 single base substitution T C intron_variant MELA-AU 7 30870575 30870575 single base substitution G T intron_variant MELA-AU 7 30870868 30870868 single base substitution C T intron_variant MELA-AU 7 30870977 30870977 single base substitution T G intron_variant MELA-AU 7 30871413 30871413 single base substitution C T intron_variant MELA-AU 7 30871619 30871619 single base substitution C T intron_variant MELA-AU 7 30871794 30871794 single base substitution C T intron_variant MELA-AU 7 30872248 30872248 single base substitution C T intron_variant MELA-AU 7 30872272 30872272 single base substitution C T intron_variant MELA-AU 7 30872322 30872322 single base substitution C T intron_variant MELA-AU 7 30872375 30872375 single base substitution T C intron_variant MELA-AU 7 30872430 30872430 single base substitution C T intron_variant MELA-AU 7 30872434 30872434 single base substitution C T intron_variant MELA-AU 7 30872458 30872458 single base substitution C T intron_variant MELA-AU 7 30873073 30873073 single base substitution C T intron_variant MELA-AU 7 30873236 30873236 single base substitution C T intron_variant MELA-AU 7 30873494 30873494 single base substitution C G intron_variant MELA-AU 7 30873706 30873706 single base substitution C T intron_variant MELA-AU 7 30873734 30873734 single base substitution C T intron_variant MELA-AU 7 30873772 30873772 single base substitution C T intron_variant MELA-AU 7 30873950 30873950 single base substitution T C intron_variant MELA-AU 7 30874162 30874162 single base substitution T A intron_variant MELA-AU 7 30874166 30874166 single base substitution C T intron_variant MELA-AU 7 30874313 30874313 single base substitution C T intron_variant MELA-AU 7 30874349 30874349 single base substitution C T intron_variant MELA-AU 7 30874381 30874381 single base substitution C T intron_variant MELA-AU 7 30874514 30874514 single base substitution C T intron_variant MELA-AU 7 30874586 30874586 single base substitution G A intron_variant MELA-AU 7 30874611 30874611 single base substitution C T intron_variant MELA-AU 7 30875221 30875221 single base substitution C T intron_variant MELA-AU 7 30875528 30875528 single base substitution C T intron_variant MELA-AU 7 30875539 30875539 single base substitution C T intron_variant MELA-AU 7 30875641 30875641 single base substitution C T intron_variant MELA-AU 7 30875865 30875865 single base substitution C T intron_variant MELA-AU 7 30875942 30875942 single base substitution C T intron_variant MELA-AU 7 30876146 30876146 single base substitution G T intron_variant MELA-AU 7 30876230 30876230 single base substitution G T intron_variant MELA-AU 7 30876534 30876534 single base substitution C T intron_variant MELA-AU 7 30876633 30876633 single base substitution G A intron_variant MELA-AU 7 30876635 30876635 single base substitution G A intron_variant MELA-AU 7 30876659 30876659 single base substitution C T intron_variant MELA-AU 7 30877126 30877126 single base substitution C T intron_variant MELA-AU 7 30877376 30877376 single base substitution G A intron_variant MELA-AU 7 30877661 30877661 single base substitution G A intron_variant MELA-AU 7 30877776 30877776 single base substitution G A intron_variant MELA-AU 7 30878033 30878033 single base substitution C T intron_variant MELA-AU 7 30878256 30878256 single base substitution C T intron_variant MELA-AU 7 30878510 30878510 single base substitution C T intron_variant MELA-AU 7 30878534 30878534 single base substitution C T intron_variant MELA-AU 7 30878536 30878536 single base substitution C T intron_variant MELA-AU 7 30878542 30878542 single base substitution C T intron_variant MELA-AU 7 30878956 30878956 single base substitution G A intron_variant MELA-AU 7 30879262 30879262 single base substitution C G intron_variant MELA-AU 7 30879497 30879497 single base substitution C T intron_variant MELA-AU 7 30879626 30879626 single base substitution G A intron_variant MELA-AU 7 30879872 30879872 single base substitution C T intron_variant MELA-AU 7 30880328 30880329 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 7 30880436 30880436 single base substitution G A missense_variant E473K 1417G>A MELA-AU 7 30880708 30880708 single base substitution A T intron_variant MELA-AU 7 30880731 30880731 single base substitution C T intron_variant MELA-AU 7 30880731 30880732 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30880802 30880802 single base substitution C T intron_variant MELA-AU 7 30881154 30881154 single base substitution G A intron_variant MELA-AU 7 30881281 30881282 deletion of <=200bp AT - intron_variant MELA-AU 7 30881423 30881423 single base substitution C T intron_variant MELA-AU 7 30881847 30881847 single base substitution C T intron_variant MELA-AU 7 30882137 30882137 single base substitution C T intron_variant MELA-AU 7 30882147 30882147 deletion of <=200bp A - intron_variant MELA-AU 7 30882629 30882629 single base substitution T A intron_variant MELA-AU 7 30882678 30882678 single base substitution C T intron_variant MELA-AU 7 30882987 30882987 single base substitution G A intron_variant MELA-AU 7 30883224 30883224 single base substitution C T intron_variant MELA-AU 7 30883230 30883230 single base substitution C T intron_variant MELA-AU 7 30883297 30883297 single base substitution C T intron_variant MELA-AU 7 30883392 30883392 single base substitution C T intron_variant MELA-AU 7 30884170 30884171 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 30884353 30884353 single base substitution C T intron_variant MELA-AU 7 30884848 30884848 single base substitution C T intron_variant MELA-AU 7 30884955 30884955 single base substitution C T intron_variant MELA-AU 7 30885269 30885269 single base substitution C T intron_variant MELA-AU 7 30885429 30885429 single base substitution T G intron_variant MELA-AU 7 30885673 30885673 single base substitution C T intron_variant MELA-AU 7 30885816 30885817 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30886009 30886009 single base substitution C T intron_variant MELA-AU 7 30886060 30886060 single base substitution T C intron_variant MELA-AU 7 30886063 30886064 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30886313 30886313 single base substitution C T intron_variant MELA-AU 7 30886500 30886500 single base substitution G A intron_variant MELA-AU 7 30886590 30886590 single base substitution C T intron_variant MELA-AU 7 30886776 30886776 single base substitution C T intron_variant MELA-AU 7 30887161 30887161 single base substitution A T intron_variant MELA-AU 7 30887205 30887205 single base substitution C T intron_variant MELA-AU 7 30888044 30888044 single base substitution T G intron_variant MELA-AU 7 30888127 30888127 single base substitution G A intron_variant MELA-AU 7 30888190 30888190 single base substitution C T intron_variant MELA-AU 7 30888306 30888306 single base substitution G A intron_variant MELA-AU 7 30888601 30888601 single base substitution C T intron_variant MELA-AU 7 30888843 30888843 single base substitution C T intron_variant MELA-AU 7 30888845 30888845 single base substitution C T intron_variant MELA-AU 7 30888915 30888915 single base substitution C T intron_variant MELA-AU 7 30889228 30889228 single base substitution C T intron_variant MELA-AU 7 30889230 30889230 single base substitution C T intron_variant MELA-AU 7 30889245 30889245 single base substitution C T intron_variant MELA-AU 7 30889264 30889264 single base substitution C T intron_variant MELA-AU 7 30889338 30889338 single base substitution C T intron_variant MELA-AU 7 30889687 30889687 single base substitution C T intron_variant MELA-AU 7 30889857 30889857 single base substitution C T intron_variant MELA-AU 7 30890247 30890247 single base substitution C T intron_variant MELA-AU 7 30890328 30890328 single base substitution C T intron_variant MELA-AU 7 30890443 30890443 single base substitution C A intron_variant MELA-AU 7 30891227 30891228 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30891278 30891278 single base substitution C T intron_variant MELA-AU 7 30891316 30891316 single base substitution C A intron_variant MELA-AU 7 30891379 30891379 single base substitution C T intron_variant MELA-AU 7 30891635 30891635 single base substitution C T intron_variant MELA-AU 7 30891766 30891766 single base substitution C T intron_variant MELA-AU 7 30891823 30891823 single base substitution C T intron_variant MELA-AU 7 30892034 30892034 single base substitution T C intron_variant MELA-AU 7 30892160 30892160 single base substitution C T intron_variant MELA-AU 7 30892333 30892333 single base substitution C T intron_variant MELA-AU 7 30892699 30892699 single base substitution C T intron_variant MELA-AU 7 30892699 30892699 single base substitution C T upstream_gene_variant MELA-AU 7 30892783 30892783 single base substitution C T intron_variant MELA-AU 7 30892783 30892783 single base substitution C T upstream_gene_variant MELA-AU 7 30892810 30892810 single base substitution C T intron_variant MELA-AU 7 30892810 30892810 single base substitution C T upstream_gene_variant MELA-AU 7 30893750 30893751 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30893750 30893751 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 30894219 30894219 single base substitution C T intron_variant MELA-AU 7 30894219 30894219 single base substitution C T upstream_gene_variant MELA-AU 7 30894224 30894224 single base substitution C A intron_variant MELA-AU 7 30894224 30894224 single base substitution C A upstream_gene_variant MELA-AU 7 30894543 30894543 single base substitution A T intron_variant MELA-AU 7 30894543 30894543 single base substitution A T upstream_gene_variant MELA-AU 7 30894552 30894552 single base substitution C T intron_variant MELA-AU 7 30894552 30894552 single base substitution C T upstream_gene_variant MELA-AU 7 30894812 30894812 single base substitution C T intron_variant MELA-AU 7 30894812 30894812 single base substitution C T upstream_gene_variant MELA-AU 7 30894953 30894953 single base substitution G A intron_variant MELA-AU 7 30894953 30894953 single base substitution G A upstream_gene_variant MELA-AU 7 30895296 30895296 single base substitution C T intron_variant MELA-AU 7 30895296 30895296 single base substitution C T upstream_gene_variant MELA-AU 7 30895430 30895430 single base substitution G A intron_variant MELA-AU 7 30895430 30895430 single base substitution G A upstream_gene_variant MELA-AU 7 30895463 30895463 single base substitution C T intron_variant MELA-AU 7 30895463 30895463 single base substitution C T upstream_gene_variant MELA-AU 7 30895611 30895611 single base substitution C T intron_variant MELA-AU 7 30895611 30895611 single base substitution C T upstream_gene_variant MELA-AU 7 30895740 30895740 single base substitution C T intron_variant MELA-AU 7 30895740 30895740 single base substitution C T upstream_gene_variant MELA-AU 7 30896525 30896525 single base substitution C T intron_variant MELA-AU 7 30896525 30896525 single base substitution C T upstream_gene_variant MELA-AU 7 30896914 30896914 single base substitution C A intron_variant MELA-AU 7 30896914 30896914 single base substitution C A upstream_gene_variant MELA-AU 7 30896920 30896920 single base substitution C T intron_variant MELA-AU 7 30896920 30896920 single base substitution C T upstream_gene_variant MELA-AU 7 30898082 30898082 single base substitution T C exon_variant MELA-AU 7 30898082 30898082 single base substitution T C intron_variant MELA-AU 7 30898518 30898518 single base substitution C T exon_variant MELA-AU 7 30898518 30898518 single base substitution C T intron_variant MELA-AU 7 30898632 30898632 single base substitution A T exon_variant MELA-AU 7 30898632 30898632 single base substitution A T intron_variant MELA-AU 7 30898655 30898655 single base substitution C T exon_variant MELA-AU 7 30898655 30898655 single base substitution C T intron_variant MELA-AU 7 30898788 30898788 single base substitution C T exon_variant MELA-AU 7 30898788 30898788 single base substitution C T intron_variant MELA-AU 7 30898801 30898801 single base substitution C T exon_variant MELA-AU 7 30898801 30898801 single base substitution C T intron_variant MELA-AU 7 30898925 30898925 single base substitution C T exon_variant MELA-AU 7 30898925 30898925 single base substitution C T missense_variant S577F 1730C>T MELA-AU 7 30898964 30898964 single base substitution C T intron_variant MELA-AU 7 30898992 30898992 single base substitution C T intron_variant MELA-AU 7 30899033 30899033 single base substitution G T intron_variant MELA-AU 7 30899189 30899189 single base substitution C T intron_variant MELA-AU 7 30899244 30899244 single base substitution G A intron_variant MELA-AU 7 30899456 30899457 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30899535 30899535 single base substitution G A intron_variant MELA-AU 7 30899880 30899880 single base substitution G T intron_variant MELA-AU 7 30900031 30900031 single base substitution C T intron_variant MELA-AU 7 30900746 30900746 single base substitution C T intron_variant MELA-AU 7 30900860 30900860 single base substitution C T intron_variant MELA-AU 7 30901117 30901118 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30901472 30901472 single base substitution C T intron_variant MELA-AU 7 30902189 30902189 single base substitution C T intron_variant MELA-AU 7 30902234 30902234 single base substitution T A intron_variant MELA-AU 7 30902613 30902613 single base substitution C T intron_variant MELA-AU 7 30902675 30902675 single base substitution C T intron_variant MELA-AU 7 30902675 30902676 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30903111 30903111 single base substitution T C intron_variant MELA-AU 7 30903536 30903536 single base substitution G A intron_variant MELA-AU 7 30904046 30904046 single base substitution C T intron_variant MELA-AU 7 30904339 30904339 single base substitution C T intron_variant MELA-AU 7 30904358 30904358 single base substitution G A intron_variant MELA-AU 7 30904737 30904737 single base substitution C T intron_variant MELA-AU 7 30905590 30905590 single base substitution C T intron_variant MELA-AU 7 30905914 30905914 single base substitution G A intron_variant MELA-AU 7 30905941 30905942 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 7 30905993 30905993 single base substitution C G intron_variant MELA-AU 7 30906458 30906458 single base substitution G A intron_variant MELA-AU 7 30906508 30906508 single base substitution C T intron_variant MELA-AU 7 30906539 30906539 single base substitution C T intron_variant MELA-AU 7 30906808 30906808 single base substitution C T intron_variant MELA-AU 7 30906809 30906809 single base substitution C T intron_variant MELA-AU 7 30906810 30906810 single base substitution C T intron_variant MELA-AU 7 30907038 30907038 single base substitution G A intron_variant MELA-AU 7 30908050 30908050 single base substitution T C intron_variant MELA-AU 7 30908122 30908123 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30908182 30908182 single base substitution G A intron_variant MELA-AU 7 30908289 30908289 single base substitution C T intron_variant MELA-AU 7 30908527 30908527 single base substitution G A intron_variant MELA-AU 7 30908696 30908696 single base substitution C T intron_variant MELA-AU 7 30908700 30908700 single base substitution C T intron_variant MELA-AU 7 30908993 30908993 single base substitution A G intron_variant MELA-AU 7 30909031 30909031 single base substitution T C intron_variant MELA-AU 7 30909204 30909204 single base substitution C T intron_variant MELA-AU 7 30909498 30909498 single base substitution C T intron_variant MELA-AU 7 30909989 30909989 single base substitution C T intron_variant MELA-AU 7 30910242 30910242 single base substitution C T intron_variant MELA-AU 7 30910416 30910416 single base substitution C T intron_variant MELA-AU 7 30910529 30910529 single base substitution C T intron_variant MELA-AU 7 30910549 30910549 single base substitution C T intron_variant MELA-AU 7 30910557 30910557 single base substitution C T intron_variant MELA-AU 7 30910569 30910569 single base substitution C T intron_variant MELA-AU 7 30910782 30910783 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30910804 30910804 single base substitution C T intron_variant MELA-AU 7 30910944 30910944 single base substitution C T intron_variant MELA-AU 7 30911028 30911028 single base substitution C T intron_variant MELA-AU 7 30911096 30911096 single base substitution T A intron_variant MELA-AU 7 30911541 30911541 single base substitution C T intron_variant MELA-AU 7 30911879 30911879 single base substitution C T exon_variant MELA-AU 7 30911879 30911879 single base substitution C T synonymous_variant V589V 1767C>T MELA-AU 7 30912018 30912018 single base substitution A C intron_variant MELA-AU 7 30912282 30912282 single base substitution G A intron_variant MELA-AU 7 30912387 30912387 single base substitution G A intron_variant MELA-AU 7 30912456 30912456 single base substitution G A intron_variant MELA-AU 7 30912863 30912863 single base substitution C T intron_variant MELA-AU 7 30913039 30913039 single base substitution C T intron_variant MELA-AU 7 30913160 30913160 single base substitution C T intron_variant MELA-AU 7 30913335 30913335 single base substitution C T intron_variant MELA-AU 7 30913661 30913661 single base substitution G A intron_variant MELA-AU 7 30913693 30913693 single base substitution C T intron_variant MELA-AU 7 30913720 30913720 single base substitution C T intron_variant MELA-AU 7 30914052 30914052 single base substitution C T intron_variant MELA-AU 7 30914074 30914075 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30915240 30915240 single base substitution T C exon_variant MELA-AU 7 30915240 30915240 single base substitution T C missense_variant L647S 1940T>C MELA-AU 7 30915345 30915345 single base substitution G A intron_variant MELA-AU 7 30915455 30915455 single base substitution C T intron_variant MELA-AU 7 30915719 30915719 single base substitution T G intron_variant MELA-AU 7 30915741 30915741 single base substitution C T intron_variant MELA-AU 7 30915801 30915801 single base substitution C T intron_variant MELA-AU 7 30916621 30916621 single base substitution C T intron_variant MELA-AU 7 30916854 30916854 single base substitution G T intron_variant MELA-AU 7 30917079 30917079 single base substitution C T intron_variant MELA-AU 7 30917183 30917184 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 7 30917484 30917484 single base substitution G T intron_variant MELA-AU 7 30917549 30917549 single base substitution C T intron_variant MELA-AU 7 30917626 30917626 single base substitution C T intron_variant MELA-AU 7 30917816 30917816 single base substitution C T intron_variant MELA-AU 7 30918107 30918107 single base substitution C T intron_variant MELA-AU 7 30918127 30918127 single base substitution C T intron_variant MELA-AU 7 30918613 30918613 single base substitution C T intron_variant MELA-AU 7 30919394 30919394 single base substitution C T intron_variant MELA-AU 7 30919739 30919739 single base substitution C T intron_variant MELA-AU 7 30919924 30919924 single base substitution C T intron_variant MELA-AU 7 30919925 30919925 single base substitution C T intron_variant MELA-AU 7 30920628 30920628 single base substitution T G intron_variant MELA-AU 7 30920795 30920795 single base substitution G A intron_variant MELA-AU 7 30920809 30920809 single base substitution G A intron_variant MELA-AU 7 30920976 30920976 single base substitution C T intron_variant MELA-AU 7 30921107 30921107 single base substitution C T intron_variant MELA-AU 7 30921161 30921161 single base substitution C T intron_variant MELA-AU 7 30921164 30921164 single base substitution C T intron_variant MELA-AU 7 30921754 30921754 single base substitution C T intron_variant MELA-AU 7 30921902 30921902 single base substitution G A exon_variant MELA-AU 7 30921902 30921902 single base substitution G A missense_variant R693K 2078G>A MELA-AU 7 30922438 30922438 single base substitution G A intron_variant MELA-AU 7 30922778 30922778 single base substitution C T intron_variant MELA-AU 7 30922889 30922889 single base substitution C T intron_variant MELA-AU 7 30923025 30923025 single base substitution G A intron_variant MELA-AU 7 30923088 30923088 single base substitution C T intron_variant MELA-AU 7 30923213 30923213 single base substitution G A intron_variant MELA-AU 7 30923309 30923309 single base substitution G T intron_variant MELA-AU 7 30923398 30923398 single base substitution C T intron_variant MELA-AU 7 30923449 30923449 single base substitution G A intron_variant MELA-AU 7 30923755 30923755 single base substitution C T intron_variant MELA-AU 7 30924174 30924174 single base substitution G A intron_variant MELA-AU 7 30924218 30924218 single base substitution C T intron_variant MELA-AU 7 30924235 30924235 single base substitution G A intron_variant MELA-AU 7 30924749 30924749 single base substitution G A intron_variant MELA-AU 7 30925022 30925022 single base substitution G A intron_variant MELA-AU 7 30925041 30925041 single base substitution C T intron_variant MELA-AU 7 30925526 30925526 single base substitution C T intron_variant MELA-AU 7 30925793 30925794 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30925945 30925945 single base substitution C T intron_variant MELA-AU 7 30926812 30926812 single base substitution C T intron_variant MELA-AU 7 30927002 30927002 single base substitution C T intron_variant MELA-AU 7 30927200 30927200 single base substitution G A intron_variant MELA-AU 7 30927302 30927302 single base substitution C T intron_variant MELA-AU 7 30927383 30927383 single base substitution G A intron_variant MELA-AU 7 30927814 30927814 single base substitution T G intron_variant MELA-AU 7 30928264 30928264 single base substitution G A intron_variant MELA-AU 7 30929216 30929216 single base substitution G A intron_variant MELA-AU 7 30929441 30929441 single base substitution C T intron_variant MELA-AU 7 30929575 30929575 single base substitution G A intron_variant MELA-AU 7 30929960 30929960 single base substitution C T intron_variant MELA-AU 7 30930060 30930060 single base substitution C T intron_variant MELA-AU 7 30930163 30930163 single base substitution T A intron_variant MELA-AU 7 30930255 30930255 single base substitution C T intron_variant MELA-AU 7 30930262 30930262 single base substitution C T intron_variant MELA-AU 7 30930519 30930519 single base substitution C T intron_variant MELA-AU 7 30930556 30930556 single base substitution G A intron_variant MELA-AU 7 30930675 30930675 single base substitution C T intron_variant MELA-AU 7 30931082 30931082 single base substitution C T intron_variant MELA-AU 7 30931144 30931144 single base substitution C T intron_variant MELA-AU 7 30931150 30931150 single base substitution C T intron_variant MELA-AU 7 30931217 30931217 single base substitution A T intron_variant MELA-AU 7 30931219 30931219 single base substitution T C intron_variant MELA-AU 7 30931224 30931224 single base substitution C A intron_variant MELA-AU 7 30931224 30931224 single base substitution C T intron_variant MELA-AU 7 30931394 30931394 single base substitution C T intron_variant MELA-AU 7 30931614 30931614 single base substitution C T exon_variant MELA-AU 7 30931614 30931614 single base substitution C T synonymous_variant I756I 2268C>T MELA-AU 7 30931674 30931674 single base substitution G A 3_prime_UTR_variant MELA-AU 7 30931674 30931674 single base substitution G A exon_variant MELA-AU 7 30931919 30931919 single base substitution C T 3_prime_UTR_variant MELA-AU 7 30931919 30931919 single base substitution C T exon_variant MELA-AU 7 30932168 30932168 single base substitution C T downstream_gene_variant MELA-AU 7 30932194 30932194 single base substitution C T downstream_gene_variant MELA-AU 7 30932197 30932197 single base substitution G A downstream_gene_variant MELA-AU 7 30932221 30932221 single base substitution G T downstream_gene_variant MELA-AU 7 30932744 30932744 single base substitution C T downstream_gene_variant MELA-AU 7 30933458 30933458 single base substitution C T downstream_gene_variant MELA-AU 7 30933693 30933693 single base substitution C T downstream_gene_variant MELA-AU 7 30933764 30933764 single base substitution C T downstream_gene_variant MELA-AU 7 30934020 30934020 single base substitution C T downstream_gene_variant MELA-AU 7 30934125 30934125 single base substitution T A downstream_gene_variant MELA-AU 7 30934218 30934218 single base substitution C T downstream_gene_variant MELA-AU 7 30934595 30934595 single base substitution C T downstream_gene_variant MELA-AU 7 30934887 30934887 single base substitution G A downstream_gene_variant MELA-AU 7 30935040 30935040 single base substitution C T downstream_gene_variant MELA-AU 7 30935124 30935124 single base substitution C T downstream_gene_variant MELA-AU 7 30935153 30935153 single base substitution G A downstream_gene_variant MELA-AU 7 30935496 30935496 single base substitution G A downstream_gene_variant MELA-AU 7 30935742 30935742 single base substitution C T downstream_gene_variant MELA-AU 7 30936184 30936184 single base substitution C T downstream_gene_variant MELA-AU 7 30936319 30936319 single base substitution C T downstream_gene_variant MELA-AU 7 30936535 30936535 single base substitution C T downstream_gene_variant MELA-AU 7 30936710 30936710 single base substitution C T downstream_gene_variant MELA-AU 7 30936712 30936712 single base substitution T C downstream_gene_variant MELA-AU 7 30936728 30936728 single base substitution C T downstream_gene_variant MELA-AU 7 30936886 30936886 single base substitution C T downstream_gene_variant ORCA-IN 7 30807079 30807079 single base substitution C T upstream_gene_variant ORCA-IN 7 30824310 30824310 single base substitution C T intron_variant ORCA-IN 7 30825567 30825567 single base substitution G T exon_variant ORCA-IN 7 30825567 30825567 single base substitution G T missense_variant V208L 622G>T ORCA-IN 7 30830870 30830870 single base substitution C G downstream_gene_variant ORCA-IN 7 30830870 30830870 single base substitution C G synonymous_variant L251L 753C>G ORCA-IN 7 30861794 30861794 deletion of <=200bp C - intron_variant ORCA-IN 7 30864003 30864003 single base substitution T C intron_variant ORCA-IN 7 30867271 30867271 single base substitution G A intron_variant ORCA-IN 7 30886121 30886121 single base substitution C T intron_variant ORCA-IN 7 30907636 30907636 single base substitution G A intron_variant ORCA-IN 7 30916785 30916785 single base substitution A G intron_variant ORCA-IN 7 30926103 30926103 single base substitution C A intron_variant OV-AU 7 30806539 30806539 single base substitution G T upstream_gene_variant OV-AU 7 30810542 30810542 single base substitution C T upstream_gene_variant OV-AU 7 30812604 30812604 single base substitution A C intron_variant OV-AU 7 30819768 30819768 single base substitution T G exon_variant OV-AU 7 30819768 30819768 single base substitution T G intron_variant OV-AU 7 30820990 30820990 single base substitution G C exon_variant OV-AU 7 30820990 30820990 single base substitution G C intron_variant OV-AU 7 30825430 30825430 single base substitution G T exon_variant OV-AU 7 30825430 30825430 single base substitution G T missense_variant S162I 485G>T OV-AU 7 30830297 30830297 single base substitution G A downstream_gene_variant OV-AU 7 30830297 30830297 single base substitution G A intron_variant OV-AU 7 30838805 30838805 single base substitution T C intron_variant OV-AU 7 30849409 30849409 single base substitution A G intron_variant OV-AU 7 30857023 30857023 single base substitution T A intron_variant OV-AU 7 30859027 30859027 single base substitution G T intron_variant OV-AU 7 30860362 30860362 single base substitution A G intron_variant OV-AU 7 30864021 30864021 single base substitution G T intron_variant OV-AU 7 30864022 30864022 single base substitution G T intron_variant OV-AU 7 30864482 30864482 single base substitution C A intron_variant OV-AU 7 30867227 30867227 single base substitution C A intron_variant OV-AU 7 30868248 30868248 single base substitution T A intron_variant OV-AU 7 30894194 30894194 single base substitution C A intron_variant OV-AU 7 30894194 30894194 single base substitution C A upstream_gene_variant OV-AU 7 30909092 30909092 single base substitution C G intron_variant OV-AU 7 30913268 30913268 single base substitution G A intron_variant OV-AU 7 30924305 30924305 single base substitution C T intron_variant OV-AU 7 30931986 30931986 single base substitution A G 3_prime_UTR_variant OV-AU 7 30931986 30931986 single base substitution A G exon_variant OV-AU 7 30935879 30935879 single base substitution G A downstream_gene_variant PACA-AU 7 30807599 30807599 single base substitution G A upstream_gene_variant PACA-AU 7 30817051 30817051 insertion of <=200bp - T intron_variant PACA-AU 7 30817051 30817051 insertion of <=200bp - T upstream_gene_variant PACA-AU 7 30819190 30819190 single base substitution G A exon_variant PACA-AU 7 30819190 30819190 single base substitution G A intron_variant PACA-AU 7 30830642 30830642 single base substitution A T downstream_gene_variant PACA-AU 7 30830642 30830642 single base substitution A T intron_variant PACA-AU 7 30831047 30831047 single base substitution C T downstream_gene_variant PACA-AU 7 30831047 30831047 single base substitution C T synonymous_variant S310S 930C>T PACA-AU 7 30833165 30833165 deletion of <=200bp G - intron_variant PACA-AU 7 30838315 30838315 single base substitution C T intron_variant PACA-AU 7 30841457 30841457 single base substitution A T intron_variant PACA-AU 7 30842543 30842543 single base substitution A C intron_variant PACA-AU 7 30844211 30844211 single base substitution G A intron_variant PACA-AU 7 30847401 30847401 single base substitution G A intron_variant PACA-AU 7 30849409 30849409 single base substitution A G intron_variant PACA-AU 7 30857410 30857410 single base substitution G C intron_variant PACA-AU 7 30872470 30872470 single base substitution C T intron_variant PACA-AU 7 30876226 30876226 single base substitution C A intron_variant PACA-AU 7 30876476 30876476 single base substitution A T intron_variant PACA-AU 7 30884615 30884615 single base substitution A T intron_variant PACA-AU 7 30904558 30904558 single base substitution C T intron_variant PACA-AU 7 30908298 30908298 single base substitution C T intron_variant PACA-AU 7 30908508 30908508 single base substitution C T intron_variant PACA-AU 7 30915916 30915916 single base substitution T A intron_variant PACA-AU 7 30915917 30915917 single base substitution C G intron_variant PACA-AU 7 30916222 30916222 single base substitution C T intron_variant PACA-AU 7 30917276 30917281 deletion of <=200bp TCTTCT - intron_variant PACA-AU 7 30920180 30920180 single base substitution G A intron_variant PACA-AU 7 30922870 30922870 single base substitution A C intron_variant PACA-AU 7 30924999 30924999 single base substitution C T intron_variant PACA-AU 7 30928959 30928959 single base substitution G C intron_variant PACA-CA 7 30806572 30806572 single base substitution T A upstream_gene_variant PACA-CA 7 30807548 30807548 single base substitution T C upstream_gene_variant PACA-CA 7 30808498 30808498 insertion of <=200bp - C upstream_gene_variant PACA-CA 7 30808748 30808748 single base substitution C T upstream_gene_variant PACA-CA 7 30811357 30811357 single base substitution T C intron_variant PACA-CA 7 30813951 30813951 single base substitution C A intron_variant PACA-CA 7 30815041 30815041 single base substitution G T intron_variant PACA-CA 7 30815041 30815041 single base substitution G T upstream_gene_variant PACA-CA 7 30815742 30815742 single base substitution T C intron_variant PACA-CA 7 30815742 30815742 single base substitution T C upstream_gene_variant PACA-CA 7 30820478 30820478 single base substitution T C exon_variant PACA-CA 7 30820478 30820478 single base substitution T C intron_variant PACA-CA 7 30824866 30824866 insertion of <=200bp - CTT intron_variant PACA-CA 7 30829218 30829218 single base substitution G C downstream_gene_variant PACA-CA 7 30829218 30829218 single base substitution G C intron_variant PACA-CA 7 30830176 30830176 single base substitution C A downstream_gene_variant PACA-CA 7 30830176 30830176 single base substitution C A intron_variant PACA-CA 7 30834280 30834280 single base substitution C G intron_variant PACA-CA 7 30841975 30841975 single base substitution A C intron_variant PACA-CA 7 30845590 30845590 single base substitution C T intron_variant PACA-CA 7 30850239 30850239 single base substitution C T intron_variant PACA-CA 7 30852369 30852369 single base substitution C G intron_variant PACA-CA 7 30868024 30868024 single base substitution G A intron_variant PACA-CA 7 30868223 30868223 single base substitution T C intron_variant PACA-CA 7 30869857 30869857 single base substitution G A intron_variant PACA-CA 7 30871932 30871932 single base substitution C G intron_variant PACA-CA 7 30881227 30881227 single base substitution G A intron_variant PACA-CA 7 30881268 30881268 single base substitution G C intron_variant PACA-CA 7 30883564 30883564 single base substitution G A intron_variant PACA-CA 7 30885595 30885595 insertion of <=200bp - C intron_variant PACA-CA 7 30887324 30887324 single base substitution G A intron_variant PACA-CA 7 30898075 30898075 single base substitution G A exon_variant PACA-CA 7 30898075 30898075 single base substitution G A intron_variant PACA-CA 7 30898164 30898164 single base substitution G A exon_variant PACA-CA 7 30898164 30898164 single base substitution G A intron_variant PACA-CA 7 30901869 30901869 single base substitution C T intron_variant PACA-CA 7 30911322 30911322 single base substitution T C intron_variant PACA-CA 7 30912671 30912671 single base substitution T C intron_variant PACA-CA 7 30917733 30917733 deletion of <=200bp C - intron_variant PACA-CA 7 30922405 30922405 single base substitution G T intron_variant PACA-CA 7 30931169 30931169 single base substitution G A intron_variant PAEN-AU 7 30812707 30812707 single base substitution C T intron_variant PAEN-AU 7 30834587 30834587 single base substitution G A intron_variant PAEN-AU 7 30886278 30886278 single base substitution C T intron_variant PAEN-AU 7 30886567 30886567 single base substitution A C intron_variant PAEN-AU 7 30892240 30892240 single base substitution T G intron_variant PAEN-AU 7 30907387 30907387 single base substitution C T intron_variant PAEN-AU 7 30907441 30907441 single base substitution C G intron_variant PAEN-AU 7 30914551 30914551 single base substitution A C intron_variant PAEN-AU 7 30921989 30921989 single base substitution A C intron_variant PAEN-AU 7 30923931 30923931 single base substitution C T intron_variant PAEN-AU 7 30925188 30925188 single base substitution A G intron_variant PAEN-IT 7 30830859 30830859 single base substitution G T downstream_gene_variant PAEN-IT 7 30830859 30830859 single base substitution G T missense_variant V248F 742G>T PAEN-IT 7 30854081 30854081 single base substitution C G intron_variant PAEN-IT 7 30854969 30854969 single base substitution C G intron_variant PAEN-IT 7 30881807 30881807 single base substitution A T intron_variant PAEN-IT 7 30893225 30893225 single base substitution G C intron_variant PAEN-IT 7 30893225 30893225 single base substitution G C upstream_gene_variant PAEN-IT 7 30894004 30894004 single base substitution C G intron_variant PAEN-IT 7 30894004 30894004 single base substitution C G upstream_gene_variant PAEN-IT 7 30906791 30906791 single base substitution C T intron_variant PAEN-IT 7 30935882 30935882 single base substitution G C downstream_gene_variant PBCA-DE 7 30810952 30810952 single base substitution C T upstream_gene_variant PBCA-DE 7 30811189 30811189 single base substitution T C intron_variant PBCA-DE 7 30816860 30816860 single base substitution G A intron_variant PBCA-DE 7 30816860 30816860 single base substitution G A upstream_gene_variant PBCA-DE 7 30837796 30837796 single base substitution G A intron_variant PBCA-DE 7 30838606 30838606 single base substitution T C intron_variant PBCA-DE 7 30848549 30848550 deletion of <=200bp GA - intron_variant PBCA-DE 7 30867935 30867936 deletion of <=200bp TG - intron_variant PBCA-DE 7 30878178 30878178 single base substitution G A intron_variant PBCA-DE 7 30891914 30891914 single base substitution T A intron_variant PBCA-DE 7 30906620 30906620 single base substitution G T intron_variant PBCA-DE 7 30909464 30909464 single base substitution G T intron_variant PBCA-DE 7 30932000 30932000 single base substitution C A 3_prime_UTR_variant PBCA-DE 7 30932000 30932000 single base substitution C A exon_variant PBCA-DE 7 30935226 30935226 single base substitution G A downstream_gene_variant PRAD-CA 7 30828780 30828780 single base substitution G A downstream_gene_variant PRAD-CA 7 30828780 30828780 single base substitution G A intron_variant PRAD-CA 7 30848780 30848780 single base substitution C G intron_variant PRAD-CA 7 30876107 30876107 single base substitution G C intron_variant PRAD-UK 7 30807958 30807958 single base substitution C T upstream_gene_variant PRAD-UK 7 30822619 30822619 single base substitution A G intron_variant PRAD-UK 7 30833596 30833597 deletion of <=200bp AG - intron_variant PRAD-UK 7 30836111 30836111 single base substitution T A intron_variant PRAD-UK 7 30852517 30852517 deletion of <=200bp T - intron_variant PRAD-UK 7 30859682 30859682 single base substitution T A intron_variant PRAD-UK 7 30861325 30861325 single base substitution A C intron_variant PRAD-UK 7 30875942 30875942 single base substitution C T intron_variant PRAD-UK 7 30896092 30896092 single base substitution C T intron_variant PRAD-UK 7 30896092 30896092 single base substitution C T upstream_gene_variant PRAD-UK 7 30905257 30905257 single base substitution G A intron_variant PRAD-UK 7 30905721 30905721 single base substitution C A intron_variant PRAD-UK 7 30929983 30929983 single base substitution C G intron_variant PRAD-US 7 30821758 30821758 single base substitution G C exon_variant PRAD-US 7 30821758 30821758 single base substitution G C missense_variant V117L 349G>C PRAD-US 7 30825445 30825445 single base substitution C T exon_variant PRAD-US 7 30825445 30825445 single base substitution C T missense_variant T167M 500C>T READ-US 7 30830903 30830903 single base substitution G A downstream_gene_variant READ-US 7 30830903 30830903 single base substitution G A synonymous_variant S262S 786G>A READ-US 7 30890136 30890136 single base substitution G A stop_gained W504* 1512G>A READ-US 7 30898883 30898883 single base substitution G A exon_variant READ-US 7 30898883 30898883 single base substitution G A missense_variant G563D 1688G>A RECA-EU 7 30810793 30810793 single base substitution G C upstream_gene_variant RECA-EU 7 30816020 30816020 single base substitution C A intron_variant RECA-EU 7 30816020 30816020 single base substitution C A upstream_gene_variant RECA-EU 7 30821706 30821706 single base substitution A T exon_variant RECA-EU 7 30821706 30821706 single base substitution A T synonymous_variant S99S 297A>T RECA-EU 7 30824045 30824045 single base substitution C T intron_variant RECA-EU 7 30834083 30834083 single base substitution G C intron_variant RECA-EU 7 30857420 30857420 single base substitution G T intron_variant RECA-EU 7 30876688 30876688 single base substitution T A intron_variant RECA-EU 7 30876689 30876689 single base substitution G C intron_variant RECA-EU 7 30880793 30880793 single base substitution C T intron_variant RECA-EU 7 30899051 30899051 single base substitution A T intron_variant RECA-EU 7 30906085 30906085 single base substitution T A intron_variant RECA-EU 7 30907425 30907425 single base substitution G A intron_variant RECA-EU 7 30908217 30908217 single base substitution G T intron_variant RECA-EU 7 30923426 30923426 single base substitution C T intron_variant RECA-EU 7 30929665 30929665 single base substitution A T intron_variant RECA-EU 7 30933454 30933454 single base substitution T A downstream_gene_variant SKCA-BR 7 30806921 30806921 single base substitution C T upstream_gene_variant SKCA-BR 7 30808302 30808302 single base substitution C T upstream_gene_variant SKCA-BR 7 30809060 30809060 single base substitution G A upstream_gene_variant SKCA-BR 7 30811189 30811189 single base substitution T C intron_variant SKCA-BR 7 30811830 30811830 single base substitution A G intron_variant SKCA-BR 7 30813577 30813577 single base substitution C T intron_variant SKCA-BR 7 30813909 30813909 single base substitution C T intron_variant SKCA-BR 7 30814222 30814222 single base substitution C T intron_variant SKCA-BR 7 30814222 30814222 single base substitution C T upstream_gene_variant SKCA-BR 7 30816135 30816135 single base substitution C T intron_variant SKCA-BR 7 30816135 30816135 single base substitution C T upstream_gene_variant SKCA-BR 7 30817683 30817683 single base substitution C T intron_variant SKCA-BR 7 30817683 30817683 single base substitution C T upstream_gene_variant SKCA-BR 7 30817938 30817939 deletion of <=200bp GT - intron_variant SKCA-BR 7 30817938 30817939 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 7 30820930 30820930 single base substitution G T exon_variant SKCA-BR 7 30820930 30820930 single base substitution G T intron_variant SKCA-BR 7 30821260 30821260 single base substitution T G exon_variant SKCA-BR 7 30821260 30821260 single base substitution T G intron_variant SKCA-BR 7 30824169 30824169 single base substitution C T intron_variant SKCA-BR 7 30824689 30824689 insertion of <=200bp - CT intron_variant SKCA-BR 7 30825615 30825615 single base substitution C T exon_variant SKCA-BR 7 30825615 30825615 single base substitution C T splice_region_variant SKCA-BR 7 30825762 30825762 single base substitution C T exon_variant SKCA-BR 7 30825762 30825762 single base substitution C T intron_variant SKCA-BR 7 30826246 30826248 deletion of <=200bp GAA - exon_variant SKCA-BR 7 30826246 30826248 deletion of <=200bp GAA - intron_variant SKCA-BR 7 30827423 30827423 single base substitution T C downstream_gene_variant SKCA-BR 7 30827423 30827423 single base substitution T C intron_variant SKCA-BR 7 30827673 30827673 single base substitution T G downstream_gene_variant SKCA-BR 7 30827673 30827673 single base substitution T G intron_variant SKCA-BR 7 30830304 30830304 single base substitution A C downstream_gene_variant SKCA-BR 7 30830304 30830304 single base substitution A C intron_variant SKCA-BR 7 30831263 30831263 single base substitution T A intron_variant SKCA-BR 7 30832536 30832536 single base substitution C T intron_variant SKCA-BR 7 30835128 30835128 single base substitution G A intron_variant SKCA-BR 7 30836513 30836513 insertion of <=200bp - CA intron_variant SKCA-BR 7 30837757 30837757 single base substitution C T intron_variant SKCA-BR 7 30837863 30837863 single base substitution G A intron_variant SKCA-BR 7 30844575 30844575 single base substitution G T intron_variant SKCA-BR 7 30845209 30845209 single base substitution G A intron_variant SKCA-BR 7 30845210 30845210 single base substitution G A intron_variant SKCA-BR 7 30847438 30847438 single base substitution C T intron_variant SKCA-BR 7 30848488 30848488 single base substitution T G intron_variant SKCA-BR 7 30852392 30852392 single base substitution C T intron_variant SKCA-BR 7 30853518 30853518 single base substitution C T intron_variant SKCA-BR 7 30853537 30853537 single base substitution G A intron_variant SKCA-BR 7 30853698 30853698 single base substitution C T intron_variant SKCA-BR 7 30856982 30856982 single base substitution C T intron_variant SKCA-BR 7 30860111 30860111 single base substitution C T intron_variant SKCA-BR 7 30860318 30860318 single base substitution C T intron_variant SKCA-BR 7 30860517 30860517 single base substitution G A intron_variant SKCA-BR 7 30862168 30862168 single base substitution C T intron_variant SKCA-BR 7 30862646 30862646 single base substitution G C intron_variant SKCA-BR 7 30868368 30868368 single base substitution T G intron_variant SKCA-BR 7 30868402 30868402 single base substitution T G intron_variant SKCA-BR 7 30870937 30870937 single base substitution C T intron_variant SKCA-BR 7 30873491 30873491 single base substitution G A intron_variant SKCA-BR 7 30876658 30876658 single base substitution C T intron_variant SKCA-BR 7 30876734 30876734 single base substitution C T intron_variant SKCA-BR 7 30877153 30877153 single base substitution C T intron_variant SKCA-BR 7 30877569 30877569 single base substitution T A intron_variant SKCA-BR 7 30878001 30878001 single base substitution G A intron_variant SKCA-BR 7 30878916 30878916 single base substitution G A missense_variant G447D 1340G>A SKCA-BR 7 30882966 30882966 single base substitution T G intron_variant SKCA-BR 7 30883254 30883254 single base substitution C T intron_variant SKCA-BR 7 30885134 30885135 deletion of <=200bp TA - intron_variant SKCA-BR 7 30889051 30889051 single base substitution A G intron_variant SKCA-BR 7 30892234 30892234 single base substitution A G intron_variant SKCA-BR 7 30892240 30892240 single base substitution T G intron_variant SKCA-BR 7 30894567 30894567 single base substitution T C intron_variant SKCA-BR 7 30894567 30894567 single base substitution T C upstream_gene_variant SKCA-BR 7 30896702 30896702 single base substitution C T intron_variant SKCA-BR 7 30896702 30896702 single base substitution C T upstream_gene_variant SKCA-BR 7 30898907 30898907 single base substitution C T exon_variant SKCA-BR 7 30898907 30898907 single base substitution C T missense_variant T571I 1712C>T SKCA-BR 7 30900030 30900030 single base substitution T C intron_variant SKCA-BR 7 30902616 30902616 single base substitution T C intron_variant SKCA-BR 7 30902732 30902732 single base substitution C T intron_variant SKCA-BR 7 30904545 30904545 single base substitution G A intron_variant SKCA-BR 7 30905219 30905219 single base substitution C T intron_variant SKCA-BR 7 30905875 30905875 single base substitution C A intron_variant SKCA-BR 7 30905914 30905914 single base substitution G A intron_variant SKCA-BR 7 30905958 30905958 single base substitution A C intron_variant SKCA-BR 7 30906731 30906731 single base substitution A C intron_variant SKCA-BR 7 30907388 30907388 single base substitution C T intron_variant SKCA-BR 7 30908604 30908604 single base substitution C T intron_variant SKCA-BR 7 30909204 30909204 single base substitution C T intron_variant SKCA-BR 7 30910756 30910756 single base substitution C T intron_variant SKCA-BR 7 30910850 30910850 single base substitution C T intron_variant SKCA-BR 7 30911095 30911095 single base substitution T G intron_variant SKCA-BR 7 30913386 30913386 single base substitution C T intron_variant SKCA-BR 7 30914673 30914673 single base substitution C T intron_variant SKCA-BR 7 30915972 30915972 single base substitution T A intron_variant SKCA-BR 7 30916293 30916293 single base substitution C T intron_variant SKCA-BR 7 30918020 30918020 single base substitution A C intron_variant SKCA-BR 7 30918364 30918364 single base substitution G A intron_variant SKCA-BR 7 30919927 30919927 single base substitution A C intron_variant SKCA-BR 7 30920926 30920926 single base substitution T G intron_variant SKCA-BR 7 30924407 30924407 single base substitution C A intron_variant SKCA-BR 7 30925337 30925337 single base substitution T C intron_variant SKCA-BR 7 30927778 30927778 single base substitution G T intron_variant SKCA-BR 7 30928665 30928665 single base substitution T G intron_variant SKCA-BR 7 30929474 30929474 single base substitution C T intron_variant SKCA-BR 7 30929984 30929984 single base substitution C T intron_variant SKCA-BR 7 30933436 30933436 single base substitution G A downstream_gene_variant SKCA-BR 7 30933712 30933712 single base substitution G A downstream_gene_variant SKCA-BR 7 30934385 30934385 single base substitution A G downstream_gene_variant SKCA-BR 7 30935432 30935432 single base substitution G A downstream_gene_variant SKCM-US 7 30821653 30821653 single base substitution T G exon_variant SKCM-US 7 30821653 30821653 single base substitution T G missense_variant F82V 244T>G SKCM-US 7 30821777 30821777 single base substitution C T exon_variant SKCM-US 7 30821777 30821777 single base substitution C T missense_variant S123L 368C>T SKCM-US 7 30825437 30825437 single base substitution C T exon_variant SKCM-US 7 30825437 30825437 single base substitution C T synonymous_variant P164P 492C>T SKCM-US 7 30825503 30825503 single base substitution C A exon_variant SKCM-US 7 30825503 30825503 single base substitution C A missense_variant H186Q 558C>A SKCM-US 7 30825511 30825511 single base substitution C T exon_variant SKCM-US 7 30825511 30825511 single base substitution C T missense_variant P189L 566C>T SKCM-US 7 30830929 30830929 single base substitution C T downstream_gene_variant SKCM-US 7 30830929 30830929 single base substitution C T missense_variant S271F 812C>T SKCM-US 7 30830930 30830930 single base substitution C T downstream_gene_variant SKCM-US 7 30830930 30830930 single base substitution C T synonymous_variant S271S 813C>T SKCM-US 7 30831043 30831043 single base substitution C T downstream_gene_variant SKCM-US 7 30831043 30831043 single base substitution C T missense_variant P309L 926C>T SKCM-US 7 30876318 30876318 single base substitution C T missense_variant P393S 1177C>T SKCM-US 7 30880418 30880418 single base substitution C T synonymous_variant L467L 1399C>T SKCM-US 7 30880436 30880436 single base substitution G A missense_variant E473K 1417G>A SKCM-US 7 30891837 30891837 single base substitution C T missense_variant S518L 1553C>T SKCM-US 7 30898886 30898886 single base substitution C T exon_variant SKCM-US 7 30898886 30898886 single base substitution C T missense_variant P564L 1691C>T SKCM-US 7 30898925 30898925 single base substitution C T exon_variant SKCM-US 7 30898925 30898925 single base substitution C T missense_variant S577F 1730C>T SKCM-US 7 30911861 30911861 single base substitution C T exon_variant SKCM-US 7 30911861 30911861 single base substitution C T synonymous_variant I583I 1749C>T SKCM-US 7 30915203 30915203 single base substitution C T exon_variant SKCM-US 7 30915203 30915203 single base substitution C T missense_variant L635F 1903C>T SKCM-US 7 30921964 30921964 single base substitution C T exon_variant SKCM-US 7 30921964 30921964 single base substitution C T missense_variant R714W 2140C>T SKCM-US 7 30922585 30922585 single base substitution C T exon_variant SKCM-US 7 30922585 30922585 single base substitution C T synonymous_variant P734P 2202C>T SKCM-US 7 30931614 30931614 single base substitution C T exon_variant SKCM-US 7 30931614 30931614 single base substitution C T synonymous_variant I756I 2268C>T STAD-US 7 30821830 30821830 single base substitution T C splice_donor_variant STAD-US 7 30825421 30825421 single base substitution C T exon_variant STAD-US 7 30825421 30825421 single base substitution C T missense_variant P159L 476C>T STAD-US 7 30825490 30825490 single base substitution T C exon_variant STAD-US 7 30825490 30825490 single base substitution T C missense_variant I182T 545T>C STAD-US 7 30890083 30890083 single base substitution T C missense_variant S487P 1459T>C STAD-US 7 30921938 30921938 single base substitution G A exon_variant STAD-US 7 30921938 30921938 single base substitution G A missense_variant G705D 2114G>A STAD-US 7 30922556 30922556 single base substitution G A exon_variant STAD-US 7 30922556 30922556 single base substitution G A missense_variant E725K 2173G>A STAD-US 7 30931599 30931599 single base substitution C T exon_variant STAD-US 7 30931599 30931599 single base substitution C T synonymous_variant N751N 2253C>T THCA-SA 7 30825575 30825575 single base substitution C A exon_variant THCA-SA 7 30825575 30825575 single base substitution C A synonymous_variant G210G 630C>A THCA-SA 7 30831082 30831082 single base substitution C T downstream_gene_variant THCA-SA 7 30831082 30831082 single base substitution C T missense_variant T322M 965C>T THCA-SA 7 30831088 30831088 single base substitution G A downstream_gene_variant THCA-SA 7 30831088 30831088 single base substitution G A missense_variant R324K 971G>A THCA-SA 7 30831181 30831181 single base substitution C T downstream_gene_variant THCA-SA 7 30831181 30831181 single base substitution C T missense_variant A355V 1064C>T THCA-SA 7 30890161 30890161 single base substitution G A missense_variant V513I 1537G>A THCA-SA 7 30915262 30915262 single base substitution C T exon_variant THCA-SA 7 30915262 30915262 single base substitution C T synonymous_variant N654N 1962C>T THCA-SA 7 30915263 30915263 single base substitution A G exon_variant THCA-SA 7 30915263 30915263 single base substitution A G missense_variant M655V 1963A>G UCEC-US 7 30818144 30818144 single base substitution G T stop_gained E54* 160G>T UCEC-US 7 30818144 30818144 single base substitution G T upstream_gene_variant UCEC-US 7 30821663 30821663 single base substitution C T exon_variant UCEC-US 7 30821663 30821663 single base substitution C T missense_variant T85M 254C>T UCEC-US 7 30825416 30825416 single base substitution G A exon_variant UCEC-US 7 30825416 30825416 single base substitution G A synonymous_variant R157R 471G>A UCEC-US 7 30825570 30825570 single base substitution C T exon_variant UCEC-US 7 30825570 30825570 single base substitution C T stop_gained R209* 625C>T UCEC-US 7 30868348 30868348 single base substitution G T missense_variant R376L 1127G>T UCEC-US 7 30915152 30915152 single base substitution G A exon_variant UCEC-US 7 30915152 30915152 single base substitution G A missense_variant V618I 1852G>A UCEC-US 7 30915201 30915201 single base substitution T G exon_variant UCEC-US 7 30915201 30915201 single base substitution T G missense_variant L634R 1901T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-60-2698-01 COSM746204 c.1481G>A p.C494Y Substitution - Missense 7:30850489-30850489 + SNUH_G45_S1 COSM4004452 c.1963A>G p.M655V Substitution - Missense 7:30875648-30875648 + CSCC-49-T COSM4450501 c.64-1G>A p.? Unknown 7:30778431-30778431 + CHC892T COSM4797052 c.1746-1G>A p.? Unknown 7:30872242-30872242 + TCGA-BH-A0H7-01 COSM5835396 c.1745_1745+1delTG p.? Unknown 7:30859324-30859325 + LUAD-NYU1210 COSM369693 c.1323A>G p.T441T Substitution - coding silent 7:30839283-30839283 + C086 COSM5530866 c.797C>T p.S266F Substitution - Missense 7:30791298-30791298 + HCC068T COSM5824227 c.909G>A p.R303R Substitution - coding silent 7:30791410-30791410 + RK025_C01 COSM1635275 c.1636T>C p.Y546H Substitution - Missense 7:30853418-30853418 + TCGA-GF-A6C9-06 COSM4513081 c.926C>T p.P309L Substitution - Missense 7:30791427-30791427 + HCC159T COSM3028436 c.184G>T p.A62S Substitution - Missense 7:30781977-30781977 + TCGA-AX-A0J0-01 COSM1089102 c.1852G>A p.V618I Substitution - Missense 7:30875537-30875537 + CSCC-49-T COSM4568536 c.1198T>C p.L400L Substitution - coding silent 7:30836723-30836723 + TCGA-EJ-A65F-01 COSM4876732 c.349G>C p.V117L Substitution - Missense 7:30782142-30782142 + S00944 COSM311212 c.1569C>T p.F523F Substitution - coding silent 7:30852237-30852237 + 587222 COSM185137 c.143G>A p.R48Q Substitution - Missense 7:30778511-30778511 + TCGA-18-3407-01 COSM746213 c.101G>T p.R34L Substitution - Missense 7:30778469-30778469 + 15T COSM3715736 c.622G>T p.V208L Substitution - Missense 7:30785951-30785951 + TCGA-EE-A2MS-06 COSM3637938 c.492C>T p.P164P Substitution - coding silent 7:30785821-30785821 + PT20_1 COSM5900511 c.339G>C p.E113D Substitution - Missense 7:30782132-30782132 + S02299 COSM5690873 c.287C>T p.P96L Substitution - Missense 7:30782080-30782080 + SW1222 COSM4654958 c.1012A>G p.M338V Substitution - Missense 7:30791513-30791513 + TCGA-BT-A0YX-01 COSM421476 c.1229C>T p.S410L Substitution - Missense 7:30836754-30836754 + PD22363a COSM5793469 c.997G>T p.G333C Substitution - Missense 7:30791498-30791498 + TCGA-EE-A29D-06 COSM3637949 c.2268C>T p.I756I Substitution - coding silent 7:30891999-30891999 + SC_9096 COSM1450360 c.1513C>T p.R505W Substitution - Missense 7:30850521-30850521 + RKO COSM3028476 c.2128C>A p.Q710K Substitution - Missense 7:30882337-30882337 + PR-03-870 COSM244381 c.1219A>G p.I407V Substitution - Missense 7:30836744-30836744 + TCGA-AX-A05Z-01 COSM1089103 c.1901T>G p.L634R Substitution - Missense 7:30875586-30875586 + TCGA-AP-A051-01 COSM1089100 c.625C>T p.R209* Substitution - Nonsense 7:30785954-30785954 + TCGA-66-2787-01 COSM746202 c.1870G>T p.E624* Substitution - Nonsense 7:30875555-30875555 + TCGA-A3-3346-01 COSM1496618 c.1127G>A p.R376Q Substitution - Missense 7:30828732-30828732 + 01-P459 COSM4587356 c.1509G>A p.V503V Substitution - coding silent 7:30850517-30850517 + TCGA-FW-A3R5-06 COSM3923476 c.1691C>T p.P564L Substitution - Missense 7:30859270-30859270 + CSCC-62-T COSM4467377 c.1485C>T p.L495L Substitution - coding silent 7:30850493-30850493 + PT20_1 COSM5900512 c.1548-8C>T p.? Unknown 7:30852208-30852208 + TCGA-AZ-6598-01 COSM1450362 c.2138T>C p.I713T Substitution - Missense 7:30882347-30882347 + TCGA-FS-A1YW-06 COSM3637937 c.368C>T p.S123L Substitution - Missense 7:30782161-30782161 + AOCS-093-3-6 COSM4164296 c.485G>T p.S162I Substitution - Missense 7:30785814-30785814 + TCGA-CM-6162-01 COSM1450357 c.56G>A p.S19N Substitution - Missense 7:30771549-30771549 + TCGA-A8-A0A6-01 COSM3832640 c.763A>C p.T255P Substitution - Missense 7:30791264-30791264 + SNUH_G45_S1 COSM3950395 c.630C>A p.G210G Substitution - coding silent 7:30785959-30785959 + LUAD-B02077 COSM335267 c.817G>T p.G273C Substitution - Missense 7:30791318-30791318 + PD22360a COSM5784204 c.614G>C p.G205A Substitution - Missense 7:30785943-30785943 + 041T COSM1729508 c.2220A>T p.R740S Substitution - Missense 7:30882988-30882988 + TCGA-EE-A3AB-06 COSM3637946 c.1730C>T p.S577F Substitution - Missense 7:30859309-30859309 + pfg181T COSM4752056 c.1535C>T p.A512V Substitution - Missense 7:30850543-30850543 + PDA_074 COSM5001887 c.1064C>T p.A355V Substitution - Missense 7:30791565-30791565 + SNU-C4 COSM4654245 c.682T>C p.Y228H Substitution - Missense 7:30791183-30791183 + TCGA-CG-5721-01 COSM3880578 c.545T>C p.I182T Substitution - Missense 7:30785874-30785874 + 587220 COSM1206241 c.1489C>A p.L497M Substitution - Missense 7:30850497-30850497 + TCGA-GC-A3RB-01 COSM1313031 c.1554G>C p.S518S Substitution - coding silent 7:30852222-30852222 + T3262 COSM4682809 c.1497C>T p.L499L Substitution - coding silent 7:30850505-30850505 + T3064 COSM4682807 c.285C>T p.I95I Substitution - coding silent 7:30782078-30782078 + PTC-7C COSM4004449 c.965C>T p.T322M Substitution - Missense 7:30791466-30791466 + TCGA-AA-A010-01 COSM280973 c.142C>T p.R48* Substitution - Nonsense 7:30778510-30778510 + TCGA-18-3409-01 COSM746209 c.925C>T p.P309S Substitution - Missense 7:30791426-30791426 + TCGA-43-6143-01 COSM746203 c.1629G>T p.L543F Substitution - Missense 7:30853411-30853411 + CHC1209T COSM4804580 c.2267T>C p.I756T Substitution - Missense 7:30891998-30891998 + TCGA-BR-7707-01 COSM3880576 c.419+2T>C p.? Unknown 7:30782214-30782214 + RK125_C01 COSM3703214 c.1808A>G p.Q603R Substitution - Missense 7:30872305-30872305 + TCGA-EJ-7125-01 COSM3674918 c.500C>T p.T167M Substitution - Missense 7:30785829-30785829 + CHC1152T COSM4791262 c.2235G>A p.G745G Substitution - coding silent 7:30891966-30891966 + KYSE-150 COSM1089100 c.625C>T p.R209* Substitution - Nonsense 7:30785954-30785954 + TCGA-BC-A3KF-01 COSM4927981 c.375A>G p.E125E Substitution - coding silent 7:30782168-30782168 + TCGA-A8-A0A6-01 COSM3832639 c.715A>C p.T239P Substitution - Missense 7:30791216-30791216 + HCC174T COSM3663152 c.1340G>A p.G447D Substitution - Missense 7:30839300-30839300 + TCGA-AP-A0LD-01 COSM1089098 c.254C>T p.T85M Substitution - Missense 7:30782047-30782047 + TCGA-37-5819-01 COSM746210 c.737G>A p.R246Q Substitution - Missense 7:30791238-30791238 + TCGA-D1-A17Q-01 COSM1089099 c.471G>A p.R157R Substitution - coding silent 7:30785800-30785800 + Pat_40_A COSM5872590 c.1061C>T p.P354L Substitution - Missense 7:30791562-30791562 + CSCC-41-T COSM4531785 c.1824G>T p.L608L Substitution - coding silent 7:30875509-30875509 + TCGA-F5-6814-01 COSM3431543 c.1512G>A p.W504* Substitution - Nonsense 7:30850520-30850520 + RK025_C COSM1635275 c.1636T>C p.Y546H Substitution - Missense 7:30853418-30853418 + PET148T COSM4963906 c.742G>T p.V248F Substitution - Missense 7:30791243-30791243 + SJHGG034_D COSM4970365 c.2236G>A p.A746T Substitution - Missense 7:30891967-30891967 + TCGA-EE-A185-06 COSM3637944 c.1417G>A p.E473K Substitution - Missense 7:30840820-30840820 + TCGA-QB-A6FS-06 COSM3028481 c.2202C>T p.P734P Substitution - coding silent 7:30882970-30882970 + HCC12 COSM1450360 c.1513C>T p.R505W Substitution - Missense 7:30850521-30850521 + TCGA-GV-A3QI-01 COSM1313030 c.987C>G p.L329L Substitution - coding silent 7:30791488-30791488 + 12T COSM3715737 c.753C>G p.L251L Substitution - coding silent 7:30791254-30791254 + 8048567 COSM3394714 c.930C>T p.S310S Substitution - coding silent 7:30791431-30791431 + S37_post COSM5574614 c.920G>A p.R307K Substitution - Missense 7:30791421-30791421 + S00944 COSM311212 c.1569C>T p.F523F Substitution - coding silent 7:30852237-30852237 + RMS2085 COSM5001887 c.1064C>T p.A355V Substitution - Missense 7:30791565-30791565 + J30_T COSM3950395 c.630C>A p.G210G Substitution - coding silent 7:30785959-30785959 + TCGA-43-5668-01 COSM746207 c.1062C>T p.P354P Substitution - coding silent 7:30791563-30791563 + TCGA-AR-A24X-01 COSM1488512 c.454T>A p.F152I Substitution - Missense 7:30785783-30785783 + T3479 COSM3880582 c.2253C>T p.N751N Substitution - coding silent 7:30891984-30891984 + TCGA-22-4604-01 COSM746206 c.1074G>A p.R358R Substitution - coding silent 7:30828679-30828679 + AOCS-093-8-4 COSM4164296 c.485G>T p.S162I Substitution - Missense 7:30785814-30785814 + TCGA-RP-A694-06 COSM4893843 c.1903C>T p.L635F Substitution - Missense 7:30875588-30875588 + TCGA-AO-A128-01 COSM3832642 c.1137T>C p.D379D Substitution - coding silent 7:30836662-30836662 + TCGA-BR-A4PF-01 COSM3880581 c.2173G>A p.E725K Substitution - Missense 7:30882941-30882941 + CSCC-41-T COSM746209 c.925C>T p.P309S Substitution - Missense 7:30791426-30791426 + SNUH_G16_S1 COSM4004450 c.971G>A p.R324K Substitution - Missense 7:30791472-30791472 + TCGA-66-2734-01 COSM746208 c.931G>T p.E311* Substitution - Nonsense 7:30791432-30791432 + 12924 COSM5617404 c.78A>T p.T26T Substitution - coding silent 7:30778446-30778446 + TCGA-BR-8286-01 COSM3880579 c.1459T>C p.S487P Substitution - Missense 7:30850467-30850467 + C086 COSM5530865 c.473C>T p.P158L Substitution - Missense 7:30785802-30785802 + TCGA-D3-A3C7-06 COSM3637948 c.2140C>T p.R714W Substitution - Missense 7:30882349-30882349 + TCGA-EE-A29L-06 COSM3637947 c.1749C>T p.I583I Substitution - coding silent 7:30872246-30872246 + CHC892T COSM4797052 c.1746-1G>A p.? Unknown 7:30872242-30872242 + TCGA-B5-A0JY-01 COSM1089097 c.160G>T p.E54* Substitution - Nonsense 7:30778528-30778528 + TCGA-AA-3976-01 COSM297505 c.1122C>T p.A374A Substitution - coding silent 7:30828727-30828727 + C0098T COSM4155724 c.297A>T p.S99S Substitution - coding silent 7:30782090-30782090 + YULONE COSM5407338 c.927C>T p.P309P Substitution - coding silent 7:30791428-30791428 + RK115_C01 COSM1635274 c.1369G>T p.G457* Substitution - Nonsense 7:30840772-30840772 + TCGA-BR-8487-01 COSM3880577 c.476C>T p.P159L Substitution - Missense 7:30785805-30785805 + T2269 COSM4682808 c.1175C>T p.S392L Substitution - Missense 7:30836700-30836700 + T2269 COSM4682810 c.1828C>T p.L610L Substitution - coding silent 7:30875513-30875513 + HCC174 COSM3663152 c.1340G>A p.G447D Substitution - Missense 7:30839300-30839300 + TCGA-EE-A181-06 COSM3637941 c.813C>T p.S271S Substitution - coding silent 7:30791314-30791314 + TCGA-06-5413-01 COSM1089102 c.1852G>A p.V618I Substitution - Missense 7:30875537-30875537 + TCGA-EE-A2MJ-06 COSM3637942 c.1177C>T p.P393S Substitution - Missense 7:30836702-30836702 + S00842 COSM5662308 c.685C>T p.L229L Substitution - coding silent 7:30791186-30791186 + CHC892T COSM4795727 c.470G>A p.R157K Substitution - Missense 7:30785799-30785799 + SNUH_G45_S1 COSM4004451 c.1962C>T p.N654N Substitution - coding silent 7:30875647-30875647 + SNU-175 COSM3028475 c.2109C>T p.Y703Y Substitution - coding silent 7:30882318-30882318 + Pat_40_B COSM5872590 c.1061C>T p.P354L Substitution - Missense 7:30791562-30791562 + 2521252 COSM5888992 c.1074-3C>T p.? Unknown 7:30828676-30828676 + 19M COSM5578529 c.517C>T p.P173S Substitution - Missense 7:30785846-30785846 + GC8_T COSM150256 c.1579G>A p.G527R Substitution - Missense 7:30852247-30852247 + pfg127T COSM4752040 c.890G>A p.R297Q Substitution - Missense 7:30791391-30791391 + TCGA-FW-A3R5-06 COSM3923475 c.812C>T p.S271F Substitution - Missense 7:30791313-30791313 + 8033610 COSM3394714 c.930C>T p.S310S Substitution - coding silent 7:30791431-30791431 + ESO-169 COSM1251829 c.1369G>A p.G457R Substitution - Missense 7:30840772-30840772 + 4132_T COSM3950396 c.1622A>C p.H541P Substitution - Missense 7:30853404-30853404 + RK101_C01 COSM3637944 c.1417G>A p.E473K Substitution - Missense 7:30840820-30840820 + HCC12T COSM1450360 c.1513C>T p.R505W Substitution - Missense 7:30850521-30850521 + TCGA-BH-A0E2-01 COSM452965 c.78A>C p.T26T Substitution - coding silent 7:30778446-30778446 + TCGA-EI-6507-01 COSM1569018 c.1688G>A p.G563D Substitution - Missense 7:30859267-30859267 + CSCC-31-T COSM4513081 c.926C>T p.P309L Substitution - Missense 7:30791427-30791427 + TCGA-D8-A1JI-01 COSM1488513 c.1161A>G p.E387E Substitution - coding silent 7:30836686-30836686 + 2557_CLM COSM3028470 c.1859A>G p.N620S Substitution - Missense 7:30875544-30875544 + TCGA-DA-A1I7-06 COSM3637943 c.1399C>T p.L467L Substitution - coding silent 7:30840802-30840802 + C086 COSM5530867 c.1725C>T p.I575I Substitution - coding silent 7:30859304-30859304 + TCGA-BR-8487-01 COSM3880580 c.2114G>A p.G705D Substitution - Missense 7:30882323-30882323 + TCGA-CM-6678-01 COSM1450358 c.154C>T p.H52Y Substitution - Missense 7:30778522-30778522 + PD6365a COSM1637279 c.1406A>G p.K469R Substitution - Missense 7:30840809-30840809 + TCGA-A8-A09Z-01 COSM3832641 c.1047G>A p.R349R Substitution - coding silent 7:30791548-30791548 + 02-P170 COSM4587357 c.1780C>T p.L594L Substitution - coding silent 7:30872277-30872277 + J6_T COSM3950397 c.2152+6G>T p.? Unknown 7:30882367-30882367 + TCGA-GN-A26C-01 COSM3637939 c.558C>A p.H186Q Substitution - Missense 7:30785887-30785887 + CHC1209T COSM4804580 c.2267T>C p.I756T Substitution - Missense 7:30891998-30891998 + S37_pre COSM5574614 c.920G>A p.R307K Substitution - Missense 7:30791421-30791421 + 49M COSM1549651 c.461C>T p.S154L Substitution - Missense 7:30785790-30785790 + TCGA-AA-3973-01 COSM297366 c.506C>T p.P169L Substitution - Missense 7:30785835-30785835 + TCGA-LP-A7HU-01 COSM1569018 c.1688G>A p.G563D Substitution - Missense 7:30859267-30859267 + B61-Tumor COSM4004452 c.1963A>G p.M655V Substitution - Missense 7:30875648-30875648 + T407 COSM4682812 c.2001delC p.I669fs*47 Deletion - Frameshift 7:30882210-30882210 + TCGA-CG-5721-01 COSM3880582 c.2253C>T p.N751N Substitution - coding silent 7:30891984-30891984 + OSCC-GB_00150111 COSM3715736 c.622G>T p.V208L Substitution - Missense 7:30785951-30785951 + TCGA-D3-A3C8-06 COSM3637945 c.1553C>T p.S518L Substitution - Missense 7:30852221-30852221 + TCGA-F4-6856-01 COSM1450359 c.477G>A p.P159P Substitution - coding silent 7:30785806-30785806 + AOCS-093-1-9 COSM4164296 c.485G>T p.S162I Substitution - Missense 7:30785814-30785814 + TCGA-B5-A11E-01 COSM1089101 c.1127G>T p.R376L Substitution - Missense 7:30828732-30828732 + T96 COSM4682811 c.1861G>A p.D621N Substitution - Missense 7:30875546-30875546 + T2197 COSM1089102 c.1852G>A p.V618I Substitution - Missense 7:30875537-30875537 + TCGA-12-0821-01 COSM3748369 c.1527A>G p.R509R Substitution - coding silent 7:30850535-30850535 + 587332 COSM1206242 c.1889G>C p.G630A Substitution - Missense 7:30875574-30875574 + SJOS001126_D1 COSM5023352 c.434A>T p.D145V Substitution - Missense 7:30785763-30785763 + S02274 COSM5682580 c.798C>T p.S266S Substitution - coding silent 7:30791299-30791299 + CSCC-10-T COSM4509159 c.799C>T p.P267S Substitution - Missense 7:30791300-30791300 + T464 COSM4682813 c.2069G>A p.R690H Substitution - Missense 7:30882278-30882278 + TCGA-76-6656-01 COSM3411978 c.861C>T p.A287A Substitution - coding silent 7:30791362-30791362 + CHC892T COSM4795727 c.470G>A p.R157K Substitution - Missense 7:30785799-30785799 + ITNET_0148_T COSM4963906 c.742G>T p.V248F Substitution - Missense 7:30791243-30791243 + PT46 COSM5928919 c.439G>A p.D147N Substitution - Missense 7:30785768-30785768 + CSCC-55-T COSM4461680 c.1216C>T p.P406S Substitution - Missense 7:30836741-30836741 + STC252 COSM5062424 c.181A>G p.K61E Substitution - Missense 7:30778549-30778549 + SNUH_G16_S1 COSM4004449 c.965C>T p.T322M Substitution - Missense 7:30791466-30791466 + HCC098T COSM3028436 c.184G>T p.A62S Substitution - Missense 7:30781977-30781977 + TCGA-A6-6140-01 COSM3762633 c.1537G>A p.V513I Substitution - Missense 7:30850545-30850545 + TCGA-GN-A26C-01 COSM3637940 c.566C>T p.P189L Substitution - Missense 7:30785895-30785895 + RK288_C01 COSM4780562 c.1330T>G p.L444V Substitution - Missense 7:30839290-30839290 + TCGA-06-5413 COSM1089102 c.1852G>A p.V618I Substitution - Missense 7:30875537-30875537 + TCGA-D3-A5GU-06 COSM3637936 c.244T>G p.F82V Substitution - Missense 7:30782037-30782037 + 2492729 COSM5726264 c.885C>T p.S295S Substitution - coding silent 7:30791386-30791386 + LIM2551 COSM4644797 c.2088G>A p.R696R Substitution - coding silent 7:30882297-30882297 + OSCC-GB_00120111 COSM3715737 c.753C>G p.L251L Substitution - coding silent 7:30791254-30791254 + SC_9089 COSM5554309 c.2033T>G p.F678C Substitution - Missense 7:30882242-30882242 + TCGA-33-4582-01 COSM746200 c.2071G>T p.D691Y Substitution - Missense 7:30882280-30882280 + ACINAR01 COSM1734198 c.1046G>A p.R349Q Substitution - Missense 7:30791547-30791547 + TCGA-EI-6507-01 COSM1569019 c.786G>A p.S262S Substitution - coding silent 7:30791287-30791287 + HN_63115 COSM127945 c.1548G>A p.L516L Substitution - coding silent 7:30852216-30852216 + T56 COSM1177722 c.142C>G p.R48G Substitution - Missense 7:30778510-30778510 + CHC1152T COSM4791262 c.2235G>A p.G745G Substitution - coding silent 7:30891966-30891966 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.660190;Hs.660191;Hs.660192 7p14.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.T26T c.78A>C 7 30818062 BRCA A G Synonymous p.E387E c.1161A>G 7 30876302 BRCA A G Synonymous p.R509R c.1527A>G 7 30890151 GBM A T Synonymous p.T26T c.78A>T 7 30818062 NSCLC C A Missense p.H186Q c.558C>A 7 30825503 CM C G Synonymous p.L329L c.987C>G 7 30831104 BLCA C G Synonymous p.L4L c.12C>G 7 30811121 LUAD C T Missense p.A512V c.1535C>T 7 30890159 CM C T Missense p.H225Y c.673C>T 7 30830790 HNSC C T Missense p.P169L c.506C>T 7 30825451 COREAD C T Missense p.P189L c.566C>T 7 30825511 CM C T Missense p.P393S c.1177C>T 7 30876318 CM C T Missense p.R714W c.2140C>T 7 30921964 CM C T Missense p.S123L c.368C>T 7 30821777 CM C T Missense p.S410L c.1229C>T 7 30876370 BLCA C T Missense p.S518L c.1553C>T 7 30891837 CM C T Missense p.S577F c.1730C>T 7 30898925 CM C T Missense p.T85M c.254C>T 7 30821663 UCEC C T Synonymous p.A287A c.861C>T 7 30830978 GBM C T Synonymous p.A374A c.1122C>T 7 30868343 COREAD C T Synonymous p.D31D c.93C>T 7 30818077 CM C T Synonymous p.F523F c.1569C>T 7 30891853 SCLC C T Synonymous p.P164P c.492C>T 7 30825437 CM C T Synonymous p.P354P c.1062C>T 7 30831179 LUSC C T Synonymous p.S271S c.813C>T 7 30830930 CM G A IntronicSNV . c.1132+2345G>A 7 30870698 CLL G A Missense p.E473K c.1417G>A 7 30880436 CM G A Missense p.G457R c.1369G>A 7 30880388 ESCA G A Missense p.R246Q c.737G>A 7 30830854 LUSC G A Missense p.R36H c.107G>A 7 30818091 HNSC G A Missense p.S245N c.734G>A 7 30830851 HNSC G A Missense p.V618I c.1852G>A 7 30915152 GBM G A Synonymous p.L516L c.1548G>A 7 30891832 HNSC G A Synonymous p.R358R c.1074G>A 7 30868295 LUSC G C Missense p.V117L c.349G>C 7 30821758 PRAD G C Synonymous p.S518S c.1554G>C 7 30891838 BLCA G T Missense p.D691Y c.2071G>T 7 30921895 LUSC G T Missense p.K63N c.189G>T 7 30821598 LUAD G T Missense p.L543F c.1629G>T 7 30893027 LUSC G T Missense p.R34L c.101G>T 7 30818085 LUSC G T Nonsense p.E311* c.931G>T 7 30831048 LUSC G T Nonsense p.E624* c.1870G>T 7 30915170 LUSC T A Missense p.F152I c.454T>A 7 30825399 BRCA T A Missense p.L757Q c.2270T>A 7 30931616 LUAD T C Missense p.Y546H c.1636T>C 7 30893034 HC TGGGCCCATCGCCAGCTCCCCACAGG - SpliceDonorDeletion . c.643_663+5delCCCATCGCCAGCTCCCCACAGGTGGG 7 30825584 BRCA T G Missense p.W301G c.901T>G 7 30831018 BRCA