Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 150786623 150786623 + Silent SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:150786623G>C c.2043C>G c.(2041-2043)ctC>ctG p.L681L BLCA 1 150789355 150789355 + Missense_Mutation SNP C C G TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr1:150789355C>G c.1711G>C c.(1711-1713)Ggc>Cgc p.G571R BLCA 1 150789620 150789620 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 g.chr1:150789620T>C c.1637A>G c.(1636-1638)gAt>gGt p.D546G BLCA 1 150795736 150795736 + Missense_Mutation SNP G G C TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr1:150795736G>C c.1328C>G c.(1327-1329)tCc>tGc p.S443C BLCA 1 150795814 150795814 + Missense_Mutation SNP T T C TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr1:150795814T>C c.1250A>G c.(1249-1251)aAa>aGa p.K417R BLCA 1 150799060 150799060 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:150799060G>A c.1201C>T c.(1201-1203)Cat>Tat p.H401Y BLCA 1 150801570 150801570 + Splice_Site SNP T T C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr1:150801570T>C c.1166A>G c.(1165-1167)cAg>cGg p.Q389R BLCA 1 150811981 150811981 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr1:150811981G>A c.422C>T c.(421-423)tCc>tTc p.S141F BLCA 1 150818775 150818775 + Missense_Mutation SNP T T C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chr1:150818775T>C c.191A>G c.(190-192)gAt>gGt p.D64G BLCA 1 150830885 150830885 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 g.chr1:150830885G>C c.77C>G c.(76-78)tCt>tGt p.S26C BRCA 1 150786681 150786681 + Missense_Mutation SNP G G T TCGA-E9-A245-01A-22D-A16D-09 TCGA-E9-A245-10A-01D-A16D-09 g.chr1:150786681G>T c.1985C>A c.(1984-1986)aCt>aAt p.T662N BRCA 1 150799086 150799086 + Missense_Mutation SNP A A G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr1:150799086A>G c.1175T>C c.(1174-1176)tTa>tCa p.L392S BRCA 1 150801630 150801630 + Missense_Mutation SNP A A G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 g.chr1:150801630A>G c.1106T>C c.(1105-1107)aTt>aCt p.I369T BRCA 1 150807078 150807078 + Nonsense_Mutation SNP C C A TCGA-BH-A0AU-01A-11D-A12Q-09 TCGA-BH-A0AU-11A-11D-A12Q-09 g.chr1:150807078C>A c.739G>T c.(739-741)Gaa>Taa p.E247* CESC 1 150785761 150785761 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 g.chr1:150785761C>T c.2167G>A c.(2167-2169)Gtg>Atg p.V723M CESC 1 150789274 150789274 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:150789274C>A c.1792G>T c.(1792-1794)Gag>Tag p.E598* CESC 1 150807072 150807072 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:150807072G>C c.745C>G c.(745-747)Cag>Gag p.Q249E COAD 1 150784509 150784509 + Frame_Shift_Del DEL G G - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:150784509delG c.2358delC c.(2356-2358)cccfs p.P786fs COAD 1 150784514 150784514 + Missense_Mutation SNP G G A TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr1:150784514G>A c.2353C>T c.(2353-2355)Ccc>Tcc p.P785S COAD 1 150786602 150786602 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr1:150786602C>T c.2064G>A c.(2062-2064)tcG>tcA p.S688S COAD 1 150788736 150788736 + Splice_Site SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr1:150788736T>C c.1949A>G c.(1948-1950)cAg>cGg p.Q650R COAD 1 150788864 150788864 + Silent SNP A A G TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr1:150788864A>G c.1821T>C c.(1819-1821)ccT>ccC p.P607P COAD 1 150789612 150789612 + Missense_Mutation SNP A A T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:150789612A>T c.1645T>A c.(1645-1647)Ttt>Att p.F549I COAD 1 150795820 150795820 + Splice_Site SNP A A G TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr1:150795820A>G c.1244T>C c.(1243-1245)gTa>gCa p.V415A COAD 1 150801574 150801574 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr1:150801574G>A c.1162C>T c.(1162-1164)Cca>Tca p.P388S COAD 1 150808901 150808901 + Silent SNP C C T TCGA-AA-3552-01A-01W-0831-10 TCGA-AA-3552-10A-01W-0831-10 g.chr1:150808901C>T c.555G>A c.(553-555)agG>agA p.R185R COAD 1 150812019 150812019 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:150812019C>T c.384G>A c.(382-384)aaG>aaA p.K128K COAD 1 150818748 150818748 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr1:150818748C>A c.218G>T c.(217-219)cGg>cTg p.R73L COADREAD 1 150784509 150784509 + Frame_Shift_Del DEL G G - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:150784509delG c.2358delC c.(2356-2358)cccfs p.P786fs COADREAD 1 150784514 150784514 + Missense_Mutation SNP G G A TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr1:150784514G>A c.2353C>T c.(2353-2355)Ccc>Tcc p.P785S COADREAD 1 150786602 150786602 + Silent SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr1:150786602C>T c.2064G>A c.(2062-2064)tcG>tcA p.S688S COADREAD 1 150788736 150788736 + Splice_Site SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr1:150788736T>C c.1949A>G c.(1948-1950)cAg>cGg p.Q650R COADREAD 1 150788864 150788864 + Silent SNP A A G TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr1:150788864A>G c.1821T>C c.(1819-1821)ccT>ccC p.P607P COADREAD 1 150789612 150789612 + Missense_Mutation SNP A A T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:150789612A>T c.1645T>A c.(1645-1647)Ttt>Att p.F549I COADREAD 1 150789891 150789891 + Silent SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:150789891T>G c.1524A>C c.(1522-1524)acA>acC p.T508T COADREAD 1 150795820 150795820 + Splice_Site SNP A A G TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr1:150795820A>G c.1244T>C c.(1243-1245)gTa>gCa p.V415A COADREAD 1 150801574 150801574 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr1:150801574G>A c.1162C>T c.(1162-1164)Cca>Tca p.P388S COADREAD 1 150808901 150808901 + Silent SNP C C T TCGA-AA-3552-01A-01W-0831-10 TCGA-AA-3552-10A-01W-0831-10 g.chr1:150808901C>T c.555G>A c.(553-555)agG>agA p.R185R COADREAD 1 150812019 150812019 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:150812019C>T c.384G>A c.(382-384)aaG>aaA p.K128K COADREAD 1 150812072 150812072 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:150812072C>A c.331G>T c.(331-333)Gaa>Taa p.E111* COADREAD 1 150818748 150818748 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr1:150818748C>A c.218G>T c.(217-219)cGg>cTg p.R73L GBMLGG 1 150801696 150801696 + Missense_Mutation SNP C C G TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr1:150801696C>G c.1040G>C c.(1039-1041)aGt>aCt p.S347T HNSC 1 150784502 150784502 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr1:150784502C>T c.2365G>A c.(2365-2367)Gaa>Aaa p.E789K HNSC 1 150784504 150784504 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:150784504G>A c.2363C>T c.(2362-2364)tCa>tTa p.S788L HNSC 1 150785759 150785759 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 g.chr1:150785759C>T c.2169G>A c.(2167-2169)gtG>gtA p.V723V HNSC 1 150795676 150795676 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 g.chr1:150795676T>C c.1388A>G c.(1387-1389)aAt>aGt p.N463S HNSC 1 150807017 150807017 + Missense_Mutation SNP A A T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 g.chr1:150807017A>T c.800T>A c.(799-801)aTg>aAg p.M267K HNSC 1 150808764 150808764 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 g.chr1:150808764G>A c.692C>T c.(691-693)gCc>gTc p.A231V HNSC 1 150808789 150808789 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr1:150808789C>T c.667G>A c.(667-669)Gag>Aag p.E223K HNSC 1 150808901 150808901 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 g.chr1:150808901C>A c.555G>T c.(553-555)agG>agT p.R185S HNSC 1 150830859 150830859 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 g.chr1:150830859C>T c.103G>A c.(103-105)Gcc>Acc p.A35T HNSC 1 150830924 150830924 + Missense_Mutation SNP T T C TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr1:150830924T>C c.38A>G c.(37-39)gAt>gGt p.D13G KIPAN 1 150789853 150789853 + Missense_Mutation SNP C C G TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chr1:150789853C>G c.1562G>C c.(1561-1563)aGc>aCc p.S521T KIPAN 1 150804293 150804293 + Splice_Site SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 g.chr1:150804293C>T c.e10+1 KIRC 1 150789853 150789853 + Missense_Mutation SNP C C G TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chr1:150789853C>G c.1562G>C c.(1561-1563)aGc>aCc p.S521T KIRC 1 150804293 150804293 + Splice_Site SNP C C T TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 g.chr1:150804293C>T c.e10+1 LGG 1 150801696 150801696 + Missense_Mutation SNP C C G TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr1:150801696C>G c.1040G>C c.(1039-1041)aGt>aCt p.S347T LIHC 1 150788840 150788840 + Silent SNP T T A TCGA-UB-A7ME-01A-11D-A33K-10 TCGA-UB-A7ME-10A-01D-A33K-10 g.chr1:150788840T>A c.1845A>T c.(1843-1845)tcA>tcT p.S615S LIHC 1 150789283 150789283 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr1:150789283delG c.1783delC c.(1783-1785)cggfs p.R595fs LIHC 1 150808762 150808762 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr1:150808762delG c.694delC c.(694-696)ctgfs p.L232fs LUAD 1 150789322 150789326 + Frame_Shift_Del DEL GTTGG GTTGG - TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 g.chr1:150789322_150789326delGTTGG c.1740_1744delCCAAC c.(1738-1746)acccaacagfs p.QQ581fs LUAD 1 150789333 150789333 + Frame_Shift_Del DEL G G - TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 g.chr1:150789333delG c.1733delC c.(1732-1734)cctfs p.P578fs LUAD 1 150789613 150789613 + Silent SNP T T C TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr1:150789613T>C c.1644A>G c.(1642-1644)ttA>ttG p.L548L LUAD 1 150795745 150795745 + Missense_Mutation SNP C C T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:150795745C>T c.1319G>A c.(1318-1320)aGa>aAa p.R440K LUAD 1 150801705 150801705 + Splice_Site SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr1:150801705T>C c.e12-2 LUAD 1 150804313 150804313 + Silent SNP G G A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr1:150804313G>A c.936C>T c.(934-936)atC>atT p.I312I LUAD 1 150808792 150808792 + Missense_Mutation SNP G G C TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr1:150808792G>C c.664C>G c.(664-666)Cgt>Ggt p.R222G LUAD 1 150811989 150811989 + Silent SNP G G A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr1:150811989G>A c.414C>T c.(412-414)caC>caT p.H138H LUSC 1 150784532 150784532 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:150784532G>A c.2335C>T c.(2335-2337)Cct>Tct p.P779S LUSC 1 150790443 150790443 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:150790443G>A c.1458C>T c.(1456-1458)ccC>ccT p.P486P PCPG 1 150812108 150812108 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 g.chr1:150812108G>A c.295C>T c.(295-297)Cgg>Tgg p.R99W PCPG 1 150814926 150814930 + Frame_Shift_Del DEL GCTCT GCTCT - TCGA-SP-A6QJ-01A-11D-A35I-08 TCGA-SP-A6QJ-10A-01D-A35G-08 g.chr1:150814926_150814930delGCTCT c.242_246delAGAGC c.(241-246)cagagcfs p.QS81fs PRAD 1 150789283 150789283 + Missense_Mutation SNP G G A TCGA-EJ-8472-01A-11D-2395-08 TCGA-EJ-8472-10A-01D-2395-08 g.chr1:150789283G>A c.1783C>T c.(1783-1785)Cgg>Tgg p.R595W PRAD 1 150790487 150790487 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr1:150790487G>A c.1414C>T c.(1414-1416)Cgg>Tgg p.R472W READ 1 150789891 150789891 + Silent SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:150789891T>G c.1524A>C c.(1522-1524)acA>acC p.T508T READ 1 150812072 150812072 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:150812072C>A c.331G>T c.(331-333)Gaa>Taa p.E111* SKCM 1 150784569 150784569 + Silent SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:150784569C>G c.2298G>C c.(2296-2298)ctG>ctC p.L766L SKCM 1 150788808 150788808 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr1:150788808G>A c.1877C>T c.(1876-1878)tCc>tTc p.S626F SKCM 1 150788865 150788865 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:150788865G>A c.1820C>T c.(1819-1821)cCt>cTt p.P607L SKCM 1 150795679 150795679 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr1:150795679G>A c.1385C>T c.(1384-1386)aCc>aTc p.T462I SKCM 1 150795738 150795738 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:150795738G>A c.1326C>T c.(1324-1326)agC>agT p.S442S SKCM 1 150795777 150795777 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:150795777G>A c.1287C>T c.(1285-1287)ttC>ttT p.F429F SKCM 1 150801696 150801696 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr1:150801696C>T c.1040G>A c.(1039-1041)aGt>aAt p.S347N SKCM 1 150804340 150804340 + Silent SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr1:150804340G>A c.909C>T c.(907-909)ttC>ttT p.F303F SKCM 1 150804825 150804825 + Missense_Mutation SNP A A C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr1:150804825A>C c.854T>G c.(853-855)gTg>gGg p.V285G SKCM 1 150811929 150811929 + Silent SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr1:150811929G>A c.474C>T c.(472-474)ttC>ttT p.F158F SKCM 1 150812123 150812123 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:150812123G>A c.280C>T c.(280-282)Cac>Tac p.H94Y SKCM 1 150812123 150812123 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr1:150812123G>A c.280C>T c.(280-282)Cac>Tac p.H94Y SKCM 1 150812125 150812125 + Missense_Mutation SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr1:150812125T>C c.278A>G c.(277-279)aAt>aGt p.N93S SKCM 1 150830871 150830871 + Nonsense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:150830871G>A c.91C>T c.(91-93)Caa>Taa p.Q31*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 150778472 150778472 single base substitution C G downstream_gene_variant BLCA-CN 1 150778481 150778481 single base substitution C G downstream_gene_variant BLCA-CN 1 150785687 150785687 single base substitution T G 3_prime_UTR_variant BLCA-CN 1 150785687 150785687 single base substitution T G downstream_gene_variant BLCA-CN 1 150785687 150785687 single base substitution T G missense_variant Q732H 2196A>C BLCA-CN 1 150785687 150785687 single base substitution T G missense_variant Q733H 2199A>C BLCA-CN 1 150785687 150785687 single base substitution T G missense_variant Q745H 2235A>C BLCA-CN 1 150785687 150785687 single base substitution T G missense_variant Q747H 2241A>C BLCA-CN 1 150788849 150788849 single base substitution G C downstream_gene_variant BLCA-CN 1 150788849 150788849 single base substitution G C intron_variant BLCA-CN 1 150788849 150788849 single base substitution G C synonymous_variant V597V 1791C>G BLCA-CN 1 150788849 150788849 single base substitution G C synonymous_variant V598V 1794C>G BLCA-CN 1 150788849 150788849 single base substitution G C synonymous_variant V610V 1830C>G BLCA-CN 1 150788849 150788849 single base substitution G C synonymous_variant V612V 1836C>G BLCA-CN 1 150812091 150812091 single base substitution C G 3_prime_UTR_variant BLCA-CN 1 150812091 150812091 single base substitution C G exon_variant BLCA-CN 1 150812091 150812091 single base substitution C G missense_variant K104N 312G>C BLCA-CN 1 150812091 150812091 single base substitution C G missense_variant K89N 267G>C BLCA-CN 1 150812091 150812091 single base substitution C G missense_variant K95N 285G>C BLCA-CN 1 150812091 150812091 single base substitution C G upstream_gene_variant BLCA-US 1 150795814 150795814 single base substitution T C intron_variant BLCA-US 1 150795814 150795814 single base substitution T C missense_variant K402R 1205A>G BLCA-US 1 150795814 150795814 single base substitution T C missense_variant K403R 1208A>G BLCA-US 1 150795814 150795814 single base substitution T C missense_variant K417R 1250A>G BLCA-US 1 150795814 150795814 single base substitution T C upstream_gene_variant BRCA-EU 1 150777567 150777567 single base substitution C T downstream_gene_variant BRCA-EU 1 150777621 150777621 single base substitution T G downstream_gene_variant BRCA-EU 1 150777705 150777705 single base substitution G T downstream_gene_variant BRCA-EU 1 150777908 150777908 single base substitution C T downstream_gene_variant BRCA-EU 1 150777913 150777913 single base substitution C A downstream_gene_variant BRCA-EU 1 150778199 150778203 deletion of <=200bp AACAG - downstream_gene_variant BRCA-EU 1 150778246 150778246 single base substitution C A downstream_gene_variant BRCA-EU 1 150778346 150778346 single base substitution G A downstream_gene_variant BRCA-EU 1 150778372 150778372 single base substitution G A downstream_gene_variant BRCA-EU 1 150778831 150778831 single base substitution G T downstream_gene_variant BRCA-EU 1 150779046 150779046 single base substitution G A downstream_gene_variant BRCA-EU 1 150779124 150779124 single base substitution C G downstream_gene_variant BRCA-EU 1 150779650 150779650 single base substitution C T downstream_gene_variant BRCA-EU 1 150779864 150779864 single base substitution C G downstream_gene_variant BRCA-EU 1 150779906 150779906 single base substitution C T downstream_gene_variant BRCA-EU 1 150780453 150780453 single base substitution T C downstream_gene_variant BRCA-EU 1 150780948 150780948 single base substitution C T downstream_gene_variant BRCA-EU 1 150781018 150781018 single base substitution C G downstream_gene_variant BRCA-EU 1 150781162 150781162 single base substitution C T downstream_gene_variant BRCA-EU 1 150781428 150781428 single base substitution C G downstream_gene_variant BRCA-EU 1 150781638 150781638 single base substitution C G downstream_gene_variant BRCA-EU 1 150781677 150781677 single base substitution C A downstream_gene_variant BRCA-EU 1 150783628 150783628 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 150783628 150783628 single base substitution G C downstream_gene_variant BRCA-EU 1 150783679 150783679 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 150783679 150783679 single base substitution G T downstream_gene_variant BRCA-EU 1 150784195 150784195 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 150784195 150784195 single base substitution C T downstream_gene_variant BRCA-EU 1 150785137 150785137 single base substitution C A downstream_gene_variant BRCA-EU 1 150785137 150785137 single base substitution C A intron_variant BRCA-EU 1 150786104 150786104 single base substitution T C downstream_gene_variant BRCA-EU 1 150786104 150786104 single base substitution T C intron_variant BRCA-EU 1 150786246 150786246 single base substitution G A downstream_gene_variant BRCA-EU 1 150786246 150786246 single base substitution G A intron_variant BRCA-EU 1 150786437 150786437 single base substitution C T downstream_gene_variant BRCA-EU 1 150786437 150786437 single base substitution C T intron_variant BRCA-EU 1 150787076 150787076 single base substitution G C downstream_gene_variant BRCA-EU 1 150787076 150787076 single base substitution G C intron_variant BRCA-EU 1 150788020 150788020 single base substitution C G downstream_gene_variant BRCA-EU 1 150788020 150788020 single base substitution C G intron_variant BRCA-EU 1 150788556 150788556 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 150788556 150788556 deletion of <=200bp T - intron_variant BRCA-EU 1 150788925 150788925 single base substitution T C downstream_gene_variant BRCA-EU 1 150788925 150788925 single base substitution T C intron_variant BRCA-EU 1 150789345 150789345 single base substitution G C downstream_gene_variant BRCA-EU 1 150789345 150789345 single base substitution G C intron_variant BRCA-EU 1 150789345 150789345 single base substitution G C missense_variant S559C 1676C>G BRCA-EU 1 150789345 150789345 single base substitution G C missense_variant S560C 1679C>G BRCA-EU 1 150789345 150789345 single base substitution G C missense_variant S574C 1721C>G BRCA-EU 1 150789868 150789868 single base substitution C G downstream_gene_variant BRCA-EU 1 150789868 150789868 single base substitution C G intron_variant BRCA-EU 1 150789868 150789868 single base substitution C G missense_variant R501T 1502G>C BRCA-EU 1 150789868 150789868 single base substitution C G missense_variant R502T 1505G>C BRCA-EU 1 150789868 150789868 single base substitution C G missense_variant R516T 1547G>C BRCA-EU 1 150790379 150790379 single base substitution A G intron_variant BRCA-EU 1 150790858 150790858 single base substitution G A exon_variant BRCA-EU 1 150790858 150790858 single base substitution G A intron_variant BRCA-EU 1 150791150 150791150 single base substitution G A intron_variant BRCA-EU 1 150791150 150791150 single base substitution G A upstream_gene_variant BRCA-EU 1 150791546 150791546 single base substitution C T intron_variant BRCA-EU 1 150791546 150791546 single base substitution C T upstream_gene_variant BRCA-EU 1 150791774 150791774 single base substitution T C intron_variant BRCA-EU 1 150791774 150791774 single base substitution T C upstream_gene_variant BRCA-EU 1 150791822 150791822 single base substitution G C intron_variant BRCA-EU 1 150791822 150791822 single base substitution G C upstream_gene_variant BRCA-EU 1 150791936 150791936 single base substitution A T intron_variant BRCA-EU 1 150791936 150791936 single base substitution A T upstream_gene_variant BRCA-EU 1 150793160 150793160 insertion of <=200bp - A intron_variant BRCA-EU 1 150793160 150793160 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 150793711 150793711 single base substitution C G intron_variant BRCA-EU 1 150793711 150793711 single base substitution C G upstream_gene_variant BRCA-EU 1 150794117 150794117 single base substitution G A intron_variant BRCA-EU 1 150794117 150794117 single base substitution G A upstream_gene_variant BRCA-EU 1 150794143 150794143 single base substitution G C intron_variant BRCA-EU 1 150794143 150794143 single base substitution G C upstream_gene_variant BRCA-EU 1 150794143 150794143 single base substitution G T intron_variant BRCA-EU 1 150794143 150794143 single base substitution G T upstream_gene_variant BRCA-EU 1 150795217 150795217 single base substitution C G intron_variant BRCA-EU 1 150795217 150795217 single base substitution C G upstream_gene_variant BRCA-EU 1 150795411 150795411 single base substitution G A intron_variant BRCA-EU 1 150795411 150795411 single base substitution G A upstream_gene_variant BRCA-EU 1 150795806 150795806 single base substitution C G intron_variant BRCA-EU 1 150795806 150795806 single base substitution C G missense_variant G405R 1213G>C BRCA-EU 1 150795806 150795806 single base substitution C G missense_variant G406R 1216G>C BRCA-EU 1 150795806 150795806 single base substitution C G missense_variant G420R 1258G>C BRCA-EU 1 150795806 150795806 single base substitution C G upstream_gene_variant BRCA-EU 1 150796609 150796609 single base substitution G T downstream_gene_variant BRCA-EU 1 150796609 150796609 single base substitution G T intron_variant BRCA-EU 1 150797164 150797164 single base substitution C G downstream_gene_variant BRCA-EU 1 150797164 150797164 single base substitution C G intron_variant BRCA-EU 1 150797422 150797422 single base substitution C A downstream_gene_variant BRCA-EU 1 150797422 150797422 single base substitution C A intron_variant BRCA-EU 1 150797471 150797471 single base substitution G A downstream_gene_variant BRCA-EU 1 150797471 150797471 single base substitution G A intron_variant BRCA-EU 1 150799443 150799443 single base substitution C T downstream_gene_variant BRCA-EU 1 150799443 150799443 single base substitution C T intron_variant BRCA-EU 1 150799566 150799566 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 150799566 150799566 deletion of <=200bp A - intron_variant BRCA-EU 1 150800148 150800148 single base substitution C G downstream_gene_variant BRCA-EU 1 150800148 150800148 single base substitution C G intron_variant BRCA-EU 1 150801843 150801843 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 150801843 150801843 insertion of <=200bp - A intron_variant BRCA-EU 1 150804543 150804543 single base substitution A C downstream_gene_variant BRCA-EU 1 150804543 150804543 single base substitution A C intron_variant BRCA-EU 1 150804543 150804543 single base substitution A C upstream_gene_variant BRCA-EU 1 150805344 150805344 single base substitution C G downstream_gene_variant BRCA-EU 1 150805344 150805344 single base substitution C G intron_variant BRCA-EU 1 150805344 150805344 single base substitution C G upstream_gene_variant BRCA-EU 1 150806008 150806008 single base substitution C A downstream_gene_variant BRCA-EU 1 150806008 150806008 single base substitution C A intron_variant BRCA-EU 1 150806008 150806008 single base substitution C A upstream_gene_variant BRCA-EU 1 150806052 150806052 single base substitution T A downstream_gene_variant BRCA-EU 1 150806052 150806052 single base substitution T A intron_variant BRCA-EU 1 150806052 150806052 single base substitution T A upstream_gene_variant BRCA-EU 1 150806588 150806588 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 150806588 150806588 deletion of <=200bp T - intron_variant BRCA-EU 1 150806588 150806588 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 150807072 150807072 single base substitution G A downstream_gene_variant BRCA-EU 1 150807072 150807072 single base substitution G A exon_variant BRCA-EU 1 150807072 150807072 single base substitution G A stop_gained Q234* 700C>T BRCA-EU 1 150807072 150807072 single base substitution G A stop_gained Q240* 718C>T BRCA-EU 1 150807072 150807072 single base substitution G A stop_gained Q249* 745C>T BRCA-EU 1 150807072 150807072 single base substitution G A upstream_gene_variant BRCA-EU 1 150807149 150807149 single base substitution C T downstream_gene_variant BRCA-EU 1 150807149 150807149 single base substitution C T exon_variant BRCA-EU 1 150807149 150807149 single base substitution C T intron_variant BRCA-EU 1 150807149 150807149 single base substitution C T upstream_gene_variant BRCA-EU 1 150807255 150807255 single base substitution G A downstream_gene_variant BRCA-EU 1 150807255 150807255 single base substitution G A exon_variant BRCA-EU 1 150807255 150807255 single base substitution G A intron_variant BRCA-EU 1 150807255 150807255 single base substitution G A upstream_gene_variant BRCA-EU 1 150808254 150808254 single base substitution G T downstream_gene_variant BRCA-EU 1 150808254 150808254 single base substitution G T intron_variant BRCA-EU 1 150808254 150808254 single base substitution G T upstream_gene_variant BRCA-EU 1 150809037 150809037 single base substitution A T downstream_gene_variant BRCA-EU 1 150809037 150809037 single base substitution A T intron_variant BRCA-EU 1 150809037 150809037 single base substitution A T upstream_gene_variant BRCA-EU 1 150809301 150809301 single base substitution G A downstream_gene_variant BRCA-EU 1 150809301 150809301 single base substitution G A intron_variant BRCA-EU 1 150809301 150809301 single base substitution G A upstream_gene_variant BRCA-EU 1 150809517 150809517 single base substitution G C downstream_gene_variant BRCA-EU 1 150809517 150809517 single base substitution G C intron_variant BRCA-EU 1 150809517 150809517 single base substitution G C upstream_gene_variant BRCA-EU 1 150811451 150811451 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 150811451 150811451 deletion of <=200bp C - intron_variant BRCA-EU 1 150811451 150811451 deletion of <=200bp C - upstream_gene_variant BRCA-EU 1 150811642 150811642 single base substitution T A downstream_gene_variant BRCA-EU 1 150811642 150811642 single base substitution T A intron_variant BRCA-EU 1 150811642 150811642 single base substitution T A upstream_gene_variant BRCA-EU 1 150811803 150811803 single base substitution G A downstream_gene_variant BRCA-EU 1 150811803 150811803 single base substitution G A intron_variant BRCA-EU 1 150811803 150811803 single base substitution G A upstream_gene_variant BRCA-EU 1 150812963 150812963 single base substitution T C intron_variant BRCA-EU 1 150812963 150812963 single base substitution T C upstream_gene_variant BRCA-EU 1 150813806 150813806 single base substitution A G intron_variant BRCA-EU 1 150813806 150813806 single base substitution A G upstream_gene_variant BRCA-EU 1 150813851 150813851 single base substitution G C intron_variant BRCA-EU 1 150813851 150813851 single base substitution G C upstream_gene_variant BRCA-EU 1 150814536 150814536 single base substitution T C intron_variant BRCA-EU 1 150817165 150817165 single base substitution G C intron_variant BRCA-EU 1 150818270 150818270 single base substitution C G intron_variant BRCA-EU 1 150818791 150818797 deletion of <=200bp AGAGAAA - splice_region_variant BRCA-EU 1 150818874 150818874 single base substitution C G intron_variant BRCA-EU 1 150819083 150819083 single base substitution G T intron_variant BRCA-EU 1 150819998 150819998 deletion of <=200bp T - intron_variant BRCA-EU 1 150820343 150820343 single base substitution T C intron_variant BRCA-EU 1 150821428 150821428 single base substitution C T intron_variant BRCA-EU 1 150821680 150821680 deletion of <=200bp A - intron_variant BRCA-EU 1 150822985 150822985 single base substitution C G intron_variant BRCA-EU 1 150823457 150823457 single base substitution C G intron_variant BRCA-EU 1 150823513 150823513 single base substitution C T intron_variant BRCA-EU 1 150825408 150825408 single base substitution G A intron_variant BRCA-EU 1 150825959 150825959 single base substitution C A intron_variant BRCA-EU 1 150826519 150826519 single base substitution C T intron_variant BRCA-EU 1 150827568 150827568 single base substitution A T intron_variant BRCA-EU 1 150828712 150828712 single base substitution G A intron_variant BRCA-EU 1 150828858 150828858 single base substitution G C intron_variant BRCA-EU 1 150828930 150828930 single base substitution T C intron_variant BRCA-EU 1 150832001 150832001 insertion of <=200bp - T intron_variant BRCA-EU 1 150832147 150832147 single base substitution T A intron_variant BRCA-EU 1 150832920 150832920 single base substitution G C intron_variant BRCA-EU 1 150836429 150836429 single base substitution G T intron_variant BRCA-EU 1 150837205 150837205 single base substitution A T intron_variant BRCA-EU 1 150838028 150838028 single base substitution G C intron_variant BRCA-EU 1 150838172 150838172 single base substitution G C intron_variant BRCA-EU 1 150840778 150840778 single base substitution G C intron_variant BRCA-EU 1 150842779 150842779 single base substitution G A intron_variant BRCA-EU 1 150843689 150843689 single base substitution G A intron_variant BRCA-EU 1 150843839 150843839 single base substitution C A intron_variant BRCA-EU 1 150843974 150843974 single base substitution T A intron_variant BRCA-EU 1 150844737 150844737 single base substitution A G intron_variant BRCA-EU 1 150845444 150845444 deletion of <=200bp A - intron_variant BRCA-EU 1 150845496 150845496 single base substitution C G intron_variant BRCA-EU 1 150845924 150845924 single base substitution G A intron_variant BRCA-EU 1 150846207 150846207 single base substitution C A intron_variant BRCA-EU 1 150847588 150847591 deletion of <=200bp TTTA - intron_variant BRCA-EU 1 150849089 150849089 single base substitution A T 5_prime_UTR_variant BRCA-EU 1 150849089 150849089 single base substitution A T upstream_gene_variant BRCA-EU 1 150849108 150849108 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 150849108 150849108 single base substitution C T upstream_gene_variant BRCA-EU 1 150849365 150849365 single base substitution G T upstream_gene_variant BRCA-EU 1 150850011 150850011 single base substitution T C upstream_gene_variant BRCA-EU 1 150850779 150850779 single base substitution G A upstream_gene_variant BRCA-EU 1 150851218 150851218 single base substitution G A upstream_gene_variant BRCA-EU 1 150853925 150853925 single base substitution T C upstream_gene_variant BRCA-FR 1 150778346 150778346 single base substitution G A downstream_gene_variant BRCA-FR 1 150778831 150778831 single base substitution G T downstream_gene_variant BRCA-FR 1 150781162 150781162 single base substitution C T downstream_gene_variant BRCA-FR 1 150781638 150781638 single base substitution C G downstream_gene_variant BRCA-FR 1 150791150 150791150 single base substitution G A intron_variant BRCA-FR 1 150791150 150791150 single base substitution G A upstream_gene_variant BRCA-FR 1 150791822 150791822 single base substitution G C intron_variant BRCA-FR 1 150791822 150791822 single base substitution G C upstream_gene_variant BRCA-FR 1 150794117 150794117 single base substitution G A intron_variant BRCA-FR 1 150794117 150794117 single base substitution G A upstream_gene_variant BRCA-FR 1 150795411 150795411 single base substitution G A intron_variant BRCA-FR 1 150795411 150795411 single base substitution G A upstream_gene_variant BRCA-FR 1 150799443 150799443 single base substitution C T downstream_gene_variant BRCA-FR 1 150799443 150799443 single base substitution C T intron_variant BRCA-FR 1 150807255 150807255 single base substitution G A downstream_gene_variant BRCA-FR 1 150807255 150807255 single base substitution G A exon_variant BRCA-FR 1 150807255 150807255 single base substitution G A intron_variant BRCA-FR 1 150807255 150807255 single base substitution G A upstream_gene_variant BRCA-FR 1 150808254 150808254 single base substitution G T downstream_gene_variant BRCA-FR 1 150808254 150808254 single base substitution G T intron_variant BRCA-FR 1 150808254 150808254 single base substitution G T upstream_gene_variant BRCA-FR 1 150810380 150810380 single base substitution C T downstream_gene_variant BRCA-FR 1 150810380 150810380 single base substitution C T intron_variant BRCA-FR 1 150810380 150810380 single base substitution C T upstream_gene_variant BRCA-FR 1 150838461 150838461 single base substitution T G intron_variant BRCA-FR 1 150839500 150839500 single base substitution G C intron_variant BRCA-FR 1 150845496 150845496 single base substitution C G intron_variant BRCA-FR 1 150850011 150850011 single base substitution T C upstream_gene_variant BRCA-UK 1 150790858 150790858 single base substitution G A exon_variant BRCA-UK 1 150790858 150790858 single base substitution G A intron_variant BRCA-UK 1 150796609 150796609 single base substitution G T downstream_gene_variant BRCA-UK 1 150796609 150796609 single base substitution G T intron_variant BRCA-UK 1 150812963 150812963 single base substitution T C intron_variant BRCA-UK 1 150812963 150812963 single base substitution T C upstream_gene_variant BRCA-UK 1 150813806 150813806 single base substitution A G intron_variant BRCA-UK 1 150813806 150813806 single base substitution A G upstream_gene_variant BRCA-UK 1 150825408 150825408 single base substitution G A intron_variant BRCA-UK 1 150825959 150825959 single base substitution C A intron_variant BRCA-UK 1 150840778 150840778 single base substitution G C intron_variant BRCA-UK 1 150844121 150844121 single base substitution C A intron_variant BRCA-US 1 150779186 150779186 single base substitution G T downstream_gene_variant BRCA-US 1 150786681 150786681 single base substitution G T downstream_gene_variant BRCA-US 1 150786681 150786681 single base substitution G T intron_variant BRCA-US 1 150786681 150786681 single base substitution G T missense_variant T647N 1940C>A BRCA-US 1 150786681 150786681 single base substitution G T missense_variant T648N 1943C>A BRCA-US 1 150786681 150786681 single base substitution G T missense_variant T660N 1979C>A BRCA-US 1 150786681 150786681 single base substitution G T missense_variant T662N 1985C>A BRCA-US 1 150799086 150799086 single base substitution A G downstream_gene_variant BRCA-US 1 150799086 150799086 single base substitution A G exon_variant BRCA-US 1 150799086 150799086 single base substitution A G missense_variant L377S 1130T>C BRCA-US 1 150799086 150799086 single base substitution A G missense_variant L378S 1133T>C BRCA-US 1 150799086 150799086 single base substitution A G missense_variant L392S 1175T>C BRCA-US 1 150801630 150801630 single base substitution A G downstream_gene_variant BRCA-US 1 150801630 150801630 single base substitution A G exon_variant BRCA-US 1 150801630 150801630 single base substitution A G missense_variant I354T 1061T>C BRCA-US 1 150801630 150801630 single base substitution A G missense_variant I355T 1064T>C BRCA-US 1 150801630 150801630 single base substitution A G missense_variant I369T 1106T>C BRCA-US 1 150807078 150807078 single base substitution C A downstream_gene_variant BRCA-US 1 150807078 150807078 single base substitution C A exon_variant BRCA-US 1 150807078 150807078 single base substitution C A stop_gained E232* 694G>T BRCA-US 1 150807078 150807078 single base substitution C A stop_gained E238* 712G>T BRCA-US 1 150807078 150807078 single base substitution C A stop_gained E247* 739G>T BRCA-US 1 150807078 150807078 single base substitution C A upstream_gene_variant BTCA-JP 1 150784541 150784541 single base substitution C T 3_prime_UTR_variant BTCA-JP 1 150784541 150784541 single base substitution C T missense_variant E761K 2281G>A BTCA-JP 1 150784541 150784541 single base substitution C T missense_variant E762K 2284G>A BTCA-JP 1 150784541 150784541 single base substitution C T missense_variant E774K 2320G>A BTCA-JP 1 150784541 150784541 single base substitution C T missense_variant E776K 2326G>A BTCA-JP 1 150789370 150789370 single base substitution T C downstream_gene_variant BTCA-JP 1 150789370 150789370 single base substitution T C intron_variant BTCA-JP 1 150789370 150789370 single base substitution T C splice_region_variant BTCA-JP 1 150789707 150789707 single base substitution T C downstream_gene_variant BTCA-JP 1 150789707 150789707 single base substitution T C intron_variant BTCA-JP 1 150804282 150804282 single base substitution T G downstream_gene_variant BTCA-JP 1 150804282 150804282 single base substitution T G exon_variant BTCA-JP 1 150804282 150804282 single base substitution T G intron_variant BTCA-JP 1 150804282 150804282 single base substitution T G upstream_gene_variant BTCA-JP 1 150804522 150804522 single base substitution G A downstream_gene_variant BTCA-JP 1 150804522 150804522 single base substitution G A intron_variant BTCA-JP 1 150804522 150804522 single base substitution G A upstream_gene_variant BTCA-JP 1 150811842 150811842 single base substitution C A downstream_gene_variant BTCA-JP 1 150811842 150811842 single base substitution C A intron_variant BTCA-JP 1 150811842 150811842 single base substitution C A upstream_gene_variant BTCA-JP 1 150831067 150831067 single base substitution G A intron_variant BTCA-JP 1 150833806 150833806 deletion of <=200bp A - intron_variant CESC-US 1 150785761 150785761 single base substitution C T 3_prime_UTR_variant CESC-US 1 150785761 150785761 single base substitution C T downstream_gene_variant CESC-US 1 150785761 150785761 single base substitution C T missense_variant V708M 2122G>A CESC-US 1 150785761 150785761 single base substitution C T missense_variant V709M 2125G>A CESC-US 1 150785761 150785761 single base substitution C T missense_variant V721M 2161G>A CESC-US 1 150785761 150785761 single base substitution C T missense_variant V723M 2167G>A CESC-US 1 150789274 150789274 single base substitution C A downstream_gene_variant CESC-US 1 150789274 150789274 single base substitution C A intron_variant CESC-US 1 150789274 150789274 single base substitution C A stop_gained E583* 1747G>T CESC-US 1 150789274 150789274 single base substitution C A stop_gained E584* 1750G>T CESC-US 1 150789274 150789274 single base substitution C A stop_gained E598* 1792G>T CESC-US 1 150807072 150807072 single base substitution G C downstream_gene_variant CESC-US 1 150807072 150807072 single base substitution G C exon_variant CESC-US 1 150807072 150807072 single base substitution G C missense_variant Q234E 700C>G CESC-US 1 150807072 150807072 single base substitution G C missense_variant Q240E 718C>G CESC-US 1 150807072 150807072 single base substitution G C missense_variant Q249E 745C>G CESC-US 1 150807072 150807072 single base substitution G C upstream_gene_variant CLLE-ES 1 150801342 150801342 single base substitution A G downstream_gene_variant CLLE-ES 1 150801342 150801342 single base substitution A G intron_variant CLLE-ES 1 150811511 150811511 single base substitution A G downstream_gene_variant CLLE-ES 1 150811511 150811511 single base substitution A G intron_variant CLLE-ES 1 150811511 150811511 single base substitution A G upstream_gene_variant CLLE-ES 1 150834507 150834507 single base substitution C A intron_variant COAD-US 1 150784509 150784509 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P771 COAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P772 COAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P784 COAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P786 COAD-US 1 150801574 150801574 single base substitution G A downstream_gene_variant COAD-US 1 150801574 150801574 single base substitution G A exon_variant COAD-US 1 150801574 150801574 single base substitution G A missense_variant P373S 1117C>T COAD-US 1 150801574 150801574 single base substitution G A missense_variant P374S 1120C>T COAD-US 1 150801574 150801574 single base substitution G A missense_variant P388S 1162C>T COAD-US 1 150812019 150812019 single base substitution C T downstream_gene_variant COAD-US 1 150812019 150812019 single base substitution C T exon_variant COAD-US 1 150812019 150812019 single base substitution C T synonymous_variant K113K 339G>A COAD-US 1 150812019 150812019 single base substitution C T synonymous_variant K119K 357G>A COAD-US 1 150812019 150812019 single base substitution C T synonymous_variant K128K 384G>A COAD-US 1 150812019 150812019 single base substitution C T upstream_gene_variant COAD-US 1 150818748 150818748 single base substitution C A 3_prime_UTR_variant COAD-US 1 150818748 150818748 single base substitution C A exon_variant COAD-US 1 150818748 150818748 single base substitution C A missense_variant R64L 191G>T COAD-US 1 150818748 150818748 single base substitution C A missense_variant R73L 218G>T COCA-CN 1 150778371 150778371 single base substitution C T downstream_gene_variant COCA-CN 1 150779768 150779768 single base substitution C A downstream_gene_variant COCA-CN 1 150779801 150779801 single base substitution C T downstream_gene_variant COCA-CN 1 150788831 150788831 single base substitution T C downstream_gene_variant COCA-CN 1 150788831 150788831 single base substitution T C intron_variant COCA-CN 1 150788831 150788831 single base substitution T C synonymous_variant A603A 1809A>G COCA-CN 1 150788831 150788831 single base substitution T C synonymous_variant A604A 1812A>G COCA-CN 1 150788831 150788831 single base substitution T C synonymous_variant A616A 1848A>G COCA-CN 1 150788831 150788831 single base substitution T C synonymous_variant A618A 1854A>G COCA-CN 1 150789712 150789712 single base substitution G A downstream_gene_variant COCA-CN 1 150789712 150789712 single base substitution G A intron_variant COCA-CN 1 150789741 150789741 single base substitution A C downstream_gene_variant COCA-CN 1 150789741 150789741 single base substitution A C intron_variant COCA-CN 1 150789952 150789952 single base substitution A T intron_variant COCA-CN 1 150795896 150795896 single base substitution T G intron_variant COCA-CN 1 150795896 150795896 single base substitution T G upstream_gene_variant COCA-CN 1 150801623 150801623 single base substitution A G downstream_gene_variant COCA-CN 1 150801623 150801623 single base substitution A G exon_variant COCA-CN 1 150801623 150801623 single base substitution A G synonymous_variant G356G 1068T>C COCA-CN 1 150801623 150801623 single base substitution A G synonymous_variant G357G 1071T>C COCA-CN 1 150801623 150801623 single base substitution A G synonymous_variant G371G 1113T>C COCA-CN 1 150804617 150804617 single base substitution T G downstream_gene_variant COCA-CN 1 150804617 150804617 single base substitution T G intron_variant COCA-CN 1 150804617 150804617 single base substitution T G upstream_gene_variant COCA-CN 1 150814921 150814921 single base substitution G A 3_prime_UTR_variant COCA-CN 1 150814921 150814921 single base substitution G A exon_variant COCA-CN 1 150814921 150814921 single base substitution G A intron_variant COCA-CN 1 150814921 150814921 single base substitution G A missense_variant A75V 224C>T COCA-CN 1 150814921 150814921 single base substitution G A missense_variant A84V 251C>T ESAD-UK 1 150782306 150782306 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 150782306 150782306 single base substitution C T downstream_gene_variant ESAD-UK 1 150783499 150783504 deletion of <=200bp CTACAG - 3_prime_UTR_variant ESAD-UK 1 150783499 150783504 deletion of <=200bp CTACAG - downstream_gene_variant ESAD-UK 1 150783564 150783564 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 150783564 150783564 single base substitution C A downstream_gene_variant ESAD-UK 1 150783637 150783637 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 150783637 150783637 single base substitution A T downstream_gene_variant ESAD-UK 1 150787974 150787974 single base substitution G A downstream_gene_variant ESAD-UK 1 150787974 150787974 single base substitution G A intron_variant ESAD-UK 1 150789884 150789884 single base substitution C A exon_variant ESAD-UK 1 150789884 150789884 single base substitution C A intron_variant ESAD-UK 1 150789884 150789884 single base substitution C A missense_variant D496Y 1486G>T ESAD-UK 1 150789884 150789884 single base substitution C A missense_variant D497Y 1489G>T ESAD-UK 1 150789884 150789884 single base substitution C A missense_variant D511Y 1531G>T ESAD-UK 1 150790999 150790999 single base substitution G A intron_variant ESAD-UK 1 150790999 150790999 single base substitution G A upstream_gene_variant ESAD-UK 1 150791326 150791326 single base substitution T C intron_variant ESAD-UK 1 150791326 150791326 single base substitution T C upstream_gene_variant ESAD-UK 1 150793402 150793402 single base substitution G A intron_variant ESAD-UK 1 150793402 150793402 single base substitution G A upstream_gene_variant ESAD-UK 1 150795549 150795549 single base substitution C T intron_variant ESAD-UK 1 150795549 150795549 single base substitution C T upstream_gene_variant ESAD-UK 1 150800696 150800696 single base substitution T C downstream_gene_variant ESAD-UK 1 150800696 150800696 single base substitution T C intron_variant ESAD-UK 1 150801740 150801740 single base substitution C T downstream_gene_variant ESAD-UK 1 150801740 150801740 single base substitution C T intron_variant ESAD-UK 1 150802134 150802134 single base substitution G A downstream_gene_variant ESAD-UK 1 150802134 150802134 single base substitution G A intron_variant ESAD-UK 1 150802849 150802849 single base substitution C A downstream_gene_variant ESAD-UK 1 150802849 150802849 single base substitution C A exon_variant ESAD-UK 1 150802849 150802849 single base substitution C A intron_variant ESAD-UK 1 150803551 150803551 single base substitution A G downstream_gene_variant ESAD-UK 1 150803551 150803551 single base substitution A G intron_variant ESAD-UK 1 150803551 150803551 single base substitution A G upstream_gene_variant ESAD-UK 1 150805102 150805102 single base substitution G C downstream_gene_variant ESAD-UK 1 150805102 150805102 single base substitution G C intron_variant ESAD-UK 1 150805102 150805102 single base substitution G C upstream_gene_variant ESAD-UK 1 150806043 150806043 single base substitution C T downstream_gene_variant ESAD-UK 1 150806043 150806043 single base substitution C T intron_variant ESAD-UK 1 150806043 150806043 single base substitution C T upstream_gene_variant ESAD-UK 1 150809527 150809527 single base substitution G A downstream_gene_variant ESAD-UK 1 150809527 150809527 single base substitution G A intron_variant ESAD-UK 1 150809527 150809527 single base substitution G A upstream_gene_variant ESAD-UK 1 150810222 150810222 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 150810222 150810222 insertion of <=200bp - T intron_variant ESAD-UK 1 150810222 150810222 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 150811025 150811025 single base substitution C T downstream_gene_variant ESAD-UK 1 150811025 150811025 single base substitution C T intron_variant ESAD-UK 1 150811025 150811025 single base substitution C T upstream_gene_variant ESAD-UK 1 150812306 150812306 single base substitution G A intron_variant ESAD-UK 1 150812306 150812306 single base substitution G A upstream_gene_variant ESAD-UK 1 150814632 150814632 single base substitution T G intron_variant ESAD-UK 1 150817190 150817190 deletion of <=200bp A - intron_variant ESAD-UK 1 150822450 150822450 single base substitution C G intron_variant ESAD-UK 1 150825333 150825333 single base substitution T C intron_variant ESAD-UK 1 150825898 150825898 insertion of <=200bp - A intron_variant ESAD-UK 1 150826602 150826602 single base substitution C G intron_variant ESAD-UK 1 150829097 150829097 single base substitution G A intron_variant ESAD-UK 1 150831155 150831155 single base substitution A C intron_variant ESAD-UK 1 150833317 150833320 deletion of <=200bp AGAA - intron_variant ESAD-UK 1 150834274 150834274 single base substitution T G intron_variant ESAD-UK 1 150834311 150834311 single base substitution G C intron_variant ESAD-UK 1 150834598 150834598 single base substitution C T intron_variant ESAD-UK 1 150835367 150835367 single base substitution A C intron_variant ESAD-UK 1 150838079 150838079 single base substitution C G intron_variant ESAD-UK 1 150838260 150838260 single base substitution T A intron_variant ESAD-UK 1 150838820 150838820 single base substitution C A intron_variant ESAD-UK 1 150839696 150839696 insertion of <=200bp - A intron_variant ESAD-UK 1 150839698 150839698 single base substitution C A intron_variant ESAD-UK 1 150841284 150841284 single base substitution G A intron_variant ESAD-UK 1 150841544 150841544 single base substitution G T intron_variant ESAD-UK 1 150842595 150842595 single base substitution C G intron_variant ESAD-UK 1 150844832 150844832 single base substitution A T intron_variant ESAD-UK 1 150845097 150845097 single base substitution C A intron_variant ESAD-UK 1 150845919 150845919 single base substitution A T intron_variant ESAD-UK 1 150848439 150848439 single base substitution A C intron_variant ESAD-UK 1 150849244 150849244 single base substitution T C 5_prime_UTR_variant ESAD-UK 1 150849244 150849244 single base substitution T C upstream_gene_variant ESAD-UK 1 150850942 150850942 single base substitution T G upstream_gene_variant ESAD-UK 1 150851325 150851325 single base substitution C T upstream_gene_variant ESAD-UK 1 150852060 150852060 single base substitution G T upstream_gene_variant ESAD-UK 1 150852282 150852282 single base substitution C G upstream_gene_variant ESAD-UK 1 150852646 150852646 single base substitution G C upstream_gene_variant ESAD-UK 1 150852937 150852937 single base substitution A G upstream_gene_variant ESAD-UK 1 150853315 150853315 insertion of <=200bp - G upstream_gene_variant ESCA-CN 1 150784514 150784514 single base substitution G A 3_prime_UTR_variant ESCA-CN 1 150784514 150784514 single base substitution G A missense_variant P770S 2308C>T ESCA-CN 1 150784514 150784514 single base substitution G A missense_variant P771S 2311C>T ESCA-CN 1 150784514 150784514 single base substitution G A missense_variant P783S 2347C>T ESCA-CN 1 150784514 150784514 single base substitution G A missense_variant P785S 2353C>T ESCA-CN 1 150789663 150789663 single base substitution T C downstream_gene_variant ESCA-CN 1 150789663 150789663 single base substitution T C intron_variant ESCA-CN 1 150789663 150789663 single base substitution T C missense_variant T517A 1549A>G ESCA-CN 1 150789663 150789663 single base substitution T C missense_variant T518A 1552A>G ESCA-CN 1 150789663 150789663 single base substitution T C missense_variant T532A 1594A>G ESCA-CN 1 150795793 150795793 single base substitution G C intron_variant ESCA-CN 1 150795793 150795793 single base substitution G C missense_variant S409C 1226C>G ESCA-CN 1 150795793 150795793 single base substitution G C missense_variant S410C 1229C>G ESCA-CN 1 150795793 150795793 single base substitution G C missense_variant S424C 1271C>G ESCA-CN 1 150795793 150795793 single base substitution G C upstream_gene_variant ESCA-CN 1 150807020 150807020 single base substitution C T downstream_gene_variant ESCA-CN 1 150807020 150807020 single base substitution C T exon_variant ESCA-CN 1 150807020 150807020 single base substitution C T missense_variant R251Q 752G>A ESCA-CN 1 150807020 150807020 single base substitution C T missense_variant R257Q 770G>A ESCA-CN 1 150807020 150807020 single base substitution C T missense_variant R266Q 797G>A ESCA-CN 1 150807020 150807020 single base substitution C T upstream_gene_variant KIRC-US 1 150778608 150778608 single base substitution A T downstream_gene_variant KIRC-US 1 150789853 150789853 single base substitution C G downstream_gene_variant KIRC-US 1 150789853 150789853 single base substitution C G intron_variant KIRC-US 1 150789853 150789853 single base substitution C G missense_variant S506T 1517G>C KIRC-US 1 150789853 150789853 single base substitution C G missense_variant S507T 1520G>C KIRC-US 1 150789853 150789853 single base substitution C G missense_variant S521T 1562G>C LAML-KR 1 150778141 150778141 single base substitution G A downstream_gene_variant LAML-KR 1 150787982 150787982 single base substitution G A downstream_gene_variant LAML-KR 1 150787982 150787982 single base substitution G A intron_variant LAML-KR 1 150788073 150788073 single base substitution C T downstream_gene_variant LAML-KR 1 150788073 150788073 single base substitution C T intron_variant LAML-KR 1 150817306 150817306 single base substitution G T intron_variant LAML-KR 1 150823972 150823972 single base substitution T C intron_variant LAML-KR 1 150824006 150824006 single base substitution T C intron_variant LAML-KR 1 150824024 150824024 single base substitution A G intron_variant LAML-KR 1 150824186 150824186 single base substitution A G intron_variant LAML-KR 1 150824203 150824203 single base substitution C T intron_variant LICA-CN 1 150778399 150778399 single base substitution C A downstream_gene_variant LICA-CN 1 150778661 150778661 single base substitution G C downstream_gene_variant LICA-FR 1 150780291 150780291 single base substitution G T downstream_gene_variant LICA-FR 1 150794305 150794310 deletion of <=200bp TTTTTT - intron_variant LICA-FR 1 150794305 150794310 deletion of <=200bp TTTTTT - upstream_gene_variant LICA-FR 1 150814944 150814944 single base substitution C T intron_variant LICA-FR 1 150814944 150814944 single base substitution C T splice_region_variant LICA-FR 1 150819923 150819923 single base substitution G A intron_variant LICA-FR 1 150823116 150823116 single base substitution A C intron_variant LICA-FR 1 150823857 150823857 single base substitution G A intron_variant LICA-FR 1 150836628 150836628 single base substitution T C intron_variant LICA-FR 1 150844827 150844827 single base substitution A C intron_variant LIHC-US 1 150778408 150778408 single base substitution C A downstream_gene_variant LIHC-US 1 150778691 150778691 single base substitution T C downstream_gene_variant LIHC-US 1 150788840 150788840 single base substitution T A downstream_gene_variant LIHC-US 1 150788840 150788840 single base substitution T A intron_variant LIHC-US 1 150788840 150788840 single base substitution T A synonymous_variant S600S 1800A>T LIHC-US 1 150788840 150788840 single base substitution T A synonymous_variant S601S 1803A>T LIHC-US 1 150788840 150788840 single base substitution T A synonymous_variant S613S 1839A>T LIHC-US 1 150788840 150788840 single base substitution T A synonymous_variant S615S 1845A>T LINC-JP 1 150779502 150779502 single base substitution G T downstream_gene_variant LINC-JP 1 150779620 150779620 single base substitution G T downstream_gene_variant LINC-JP 1 150781850 150781850 single base substitution T C downstream_gene_variant LINC-JP 1 150785817 150785817 single base substitution A C downstream_gene_variant LINC-JP 1 150785817 150785817 single base substitution A C splice_region_variant LINC-JP 1 150789317 150789317 single base substitution T C downstream_gene_variant LINC-JP 1 150789317 150789317 single base substitution T C intron_variant LINC-JP 1 150789317 150789317 single base substitution T C synonymous_variant L568L 1704A>G LINC-JP 1 150789317 150789317 single base substitution T C synonymous_variant L569L 1707A>G LINC-JP 1 150789317 150789317 single base substitution T C synonymous_variant L583L 1749A>G LINC-JP 1 150795882 150795882 single base substitution A C intron_variant LINC-JP 1 150795882 150795882 single base substitution A C upstream_gene_variant LINC-JP 1 150797739 150797739 single base substitution A G downstream_gene_variant LINC-JP 1 150797739 150797739 single base substitution A G intron_variant LINC-JP 1 150808294 150808294 single base substitution A G downstream_gene_variant LINC-JP 1 150808294 150808294 single base substitution A G intron_variant LINC-JP 1 150808294 150808294 single base substitution A G upstream_gene_variant LINC-JP 1 150808478 150808478 deletion of <=200bp A - downstream_gene_variant LINC-JP 1 150808478 150808478 deletion of <=200bp A - intron_variant LINC-JP 1 150808478 150808478 deletion of <=200bp A - upstream_gene_variant LINC-JP 1 150808729 150808729 single base substitution T C downstream_gene_variant LINC-JP 1 150808729 150808729 single base substitution T C intron_variant LINC-JP 1 150808729 150808729 single base substitution T C upstream_gene_variant LINC-JP 1 150809698 150809698 single base substitution T C downstream_gene_variant LINC-JP 1 150809698 150809698 single base substitution T C intron_variant LINC-JP 1 150809698 150809698 single base substitution T C upstream_gene_variant LINC-JP 1 150818348 150818348 single base substitution A T intron_variant LINC-JP 1 150818419 150818419 insertion of <=200bp - A intron_variant LINC-JP 1 150818701 150818701 single base substitution T C intron_variant LINC-JP 1 150822260 150822260 single base substitution G T intron_variant LINC-JP 1 150832273 150832273 single base substitution C T intron_variant LINC-JP 1 150840204 150840204 single base substitution T C intron_variant LINC-JP 1 150849757 150849774 deletion of <=200bp ATTTTACTAAAAACCTTC - upstream_gene_variant LINC-JP 1 150853589 150853589 single base substitution C A upstream_gene_variant LIRI-JP 1 150780258 150780258 single base substitution T A downstream_gene_variant LIRI-JP 1 150781232 150781232 single base substitution T C downstream_gene_variant LIRI-JP 1 150781395 150781395 single base substitution A G downstream_gene_variant LIRI-JP 1 150785760 150785760 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 150785760 150785760 single base substitution A T downstream_gene_variant LIRI-JP 1 150785760 150785760 single base substitution A T missense_variant V708E 2123T>A LIRI-JP 1 150785760 150785760 single base substitution A T missense_variant V709E 2126T>A LIRI-JP 1 150785760 150785760 single base substitution A T missense_variant V721E 2162T>A LIRI-JP 1 150785760 150785760 single base substitution A T missense_variant V723E 2168T>A LIRI-JP 1 150786632 150786632 single base substitution G A downstream_gene_variant LIRI-JP 1 150786632 150786632 single base substitution G A intron_variant LIRI-JP 1 150786632 150786632 single base substitution G A synonymous_variant S663S 1989C>T LIRI-JP 1 150786632 150786632 single base substitution G A synonymous_variant S664S 1992C>T LIRI-JP 1 150786632 150786632 single base substitution G A synonymous_variant S676S 2028C>T LIRI-JP 1 150786632 150786632 single base substitution G A synonymous_variant S678S 2034C>T LIRI-JP 1 150787583 150787583 single base substitution T A downstream_gene_variant LIRI-JP 1 150787583 150787583 single base substitution T A intron_variant LIRI-JP 1 150787609 150787609 single base substitution C A downstream_gene_variant LIRI-JP 1 150787609 150787609 single base substitution C A intron_variant LIRI-JP 1 150787610 150787610 single base substitution T A downstream_gene_variant LIRI-JP 1 150787610 150787610 single base substitution T A intron_variant LIRI-JP 1 150788470 150788470 single base substitution C T downstream_gene_variant LIRI-JP 1 150788470 150788470 single base substitution C T intron_variant LIRI-JP 1 150788504 150788504 single base substitution G A downstream_gene_variant LIRI-JP 1 150788504 150788504 single base substitution G A intron_variant LIRI-JP 1 150789896 150789896 single base substitution G A exon_variant LIRI-JP 1 150789896 150789896 single base substitution G A intron_variant LIRI-JP 1 150789896 150789896 single base substitution G A stop_gained Q492* 1474C>T LIRI-JP 1 150789896 150789896 single base substitution G A stop_gained Q493* 1477C>T LIRI-JP 1 150789896 150789896 single base substitution G A stop_gained Q507* 1519C>T LIRI-JP 1 150790659 150790659 single base substitution T C exon_variant LIRI-JP 1 150790659 150790659 single base substitution T C intron_variant LIRI-JP 1 150792821 150792825 deletion of <=200bp CTAGT - intron_variant LIRI-JP 1 150792821 150792825 deletion of <=200bp CTAGT - upstream_gene_variant LIRI-JP 1 150793300 150793300 single base substitution T C intron_variant LIRI-JP 1 150793300 150793300 single base substitution T C upstream_gene_variant LIRI-JP 1 150793356 150793356 single base substitution T G intron_variant LIRI-JP 1 150793356 150793356 single base substitution T G upstream_gene_variant LIRI-JP 1 150794265 150794265 single base substitution T C intron_variant LIRI-JP 1 150794265 150794265 single base substitution T C upstream_gene_variant LIRI-JP 1 150796865 150796865 single base substitution A C downstream_gene_variant LIRI-JP 1 150796865 150796865 single base substitution A C intron_variant LIRI-JP 1 150797603 150797603 single base substitution T A downstream_gene_variant LIRI-JP 1 150797603 150797603 single base substitution T A intron_variant LIRI-JP 1 150797631 150797631 single base substitution C T downstream_gene_variant LIRI-JP 1 150797631 150797631 single base substitution C T intron_variant LIRI-JP 1 150798732 150798732 single base substitution G A downstream_gene_variant LIRI-JP 1 150798732 150798732 single base substitution G A intron_variant LIRI-JP 1 150799840 150799840 single base substitution A T downstream_gene_variant LIRI-JP 1 150799840 150799840 single base substitution A T intron_variant LIRI-JP 1 150800100 150800100 single base substitution T C downstream_gene_variant LIRI-JP 1 150800100 150800100 single base substitution T C intron_variant LIRI-JP 1 150802590 150802590 single base substitution T A downstream_gene_variant LIRI-JP 1 150802590 150802590 single base substitution T A exon_variant LIRI-JP 1 150802590 150802590 single base substitution T A intron_variant LIRI-JP 1 150802700 150802700 single base substitution T C downstream_gene_variant LIRI-JP 1 150802700 150802700 single base substitution T C exon_variant LIRI-JP 1 150802700 150802700 single base substitution T C intron_variant LIRI-JP 1 150803651 150803651 single base substitution T C downstream_gene_variant LIRI-JP 1 150803651 150803651 single base substitution T C intron_variant LIRI-JP 1 150803651 150803651 single base substitution T C upstream_gene_variant LIRI-JP 1 150803909 150803909 single base substitution T C downstream_gene_variant LIRI-JP 1 150803909 150803909 single base substitution T C intron_variant LIRI-JP 1 150803909 150803909 single base substitution T C upstream_gene_variant LIRI-JP 1 150805105 150805105 single base substitution T A downstream_gene_variant LIRI-JP 1 150805105 150805105 single base substitution T A intron_variant LIRI-JP 1 150805105 150805105 single base substitution T A upstream_gene_variant LIRI-JP 1 150805163 150805163 single base substitution A G downstream_gene_variant LIRI-JP 1 150805163 150805163 single base substitution A G intron_variant LIRI-JP 1 150805163 150805163 single base substitution A G upstream_gene_variant LIRI-JP 1 150806123 150806123 single base substitution T C downstream_gene_variant LIRI-JP 1 150806123 150806123 single base substitution T C intron_variant LIRI-JP 1 150806123 150806123 single base substitution T C upstream_gene_variant LIRI-JP 1 150806290 150806290 single base substitution G A downstream_gene_variant LIRI-JP 1 150806290 150806290 single base substitution G A intron_variant LIRI-JP 1 150806290 150806290 single base substitution G A upstream_gene_variant LIRI-JP 1 150807020 150807020 single base substitution C A downstream_gene_variant LIRI-JP 1 150807020 150807020 single base substitution C A exon_variant LIRI-JP 1 150807020 150807020 single base substitution C A missense_variant R251L 752G>T LIRI-JP 1 150807020 150807020 single base substitution C A missense_variant R257L 770G>T LIRI-JP 1 150807020 150807020 single base substitution C A missense_variant R266L 797G>T LIRI-JP 1 150807020 150807020 single base substitution C A upstream_gene_variant LIRI-JP 1 150812191 150812191 single base substitution G C intron_variant LIRI-JP 1 150812191 150812191 single base substitution G C upstream_gene_variant LIRI-JP 1 150814315 150814315 single base substitution C A intron_variant LIRI-JP 1 150816469 150816469 single base substitution T C intron_variant LIRI-JP 1 150816509 150816509 single base substitution T C intron_variant LIRI-JP 1 150817474 150817474 single base substitution T C intron_variant LIRI-JP 1 150820738 150820738 single base substitution C A intron_variant LIRI-JP 1 150821460 150821460 single base substitution A G intron_variant LIRI-JP 1 150821536 150821536 single base substitution G A intron_variant LIRI-JP 1 150824948 150824948 single base substitution G A intron_variant LIRI-JP 1 150824949 150824949 single base substitution C A intron_variant LIRI-JP 1 150827583 150827583 single base substitution T C intron_variant LIRI-JP 1 150832436 150832436 single base substitution T C intron_variant LIRI-JP 1 150833794 150833794 single base substitution A C intron_variant LIRI-JP 1 150839832 150839832 single base substitution C G intron_variant LIRI-JP 1 150840972 150840972 single base substitution G T intron_variant LIRI-JP 1 150841468 150841468 single base substitution T C intron_variant LIRI-JP 1 150841564 150841564 single base substitution T A intron_variant LIRI-JP 1 150842450 150842450 single base substitution T C intron_variant LIRI-JP 1 150843097 150843097 single base substitution T G intron_variant LIRI-JP 1 150850333 150850333 single base substitution T G upstream_gene_variant LIRI-JP 1 150852516 150852516 single base substitution G T upstream_gene_variant LIRI-JP 1 150852833 150852833 single base substitution T G upstream_gene_variant LUSC-KR 1 150782303 150782303 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 150782303 150782303 single base substitution C T downstream_gene_variant LUSC-KR 1 150783955 150783955 single base substitution T C 3_prime_UTR_variant LUSC-KR 1 150783955 150783955 single base substitution T C downstream_gene_variant LUSC-KR 1 150785799 150785799 single base substitution T C 3_prime_UTR_variant LUSC-KR 1 150785799 150785799 single base substitution T C downstream_gene_variant LUSC-KR 1 150785799 150785799 single base substitution T C missense_variant Q695R 2084A>G LUSC-KR 1 150785799 150785799 single base substitution T C missense_variant Q696R 2087A>G LUSC-KR 1 150785799 150785799 single base substitution T C missense_variant Q708R 2123A>G LUSC-KR 1 150785799 150785799 single base substitution T C missense_variant Q710R 2129A>G LUSC-KR 1 150789961 150789961 single base substitution A T intron_variant LUSC-KR 1 150790321 150790321 single base substitution C A intron_variant LUSC-KR 1 150790613 150790613 single base substitution C T exon_variant LUSC-KR 1 150790613 150790613 single base substitution C T intron_variant LUSC-KR 1 150792959 150792959 single base substitution C T intron_variant LUSC-KR 1 150792959 150792959 single base substitution C T upstream_gene_variant LUSC-KR 1 150808955 150808955 single base substitution C G downstream_gene_variant LUSC-KR 1 150808955 150808955 single base substitution C G exon_variant LUSC-KR 1 150808955 150808955 single base substitution C G missense_variant L152F 456G>C LUSC-KR 1 150808955 150808955 single base substitution C G missense_variant L158F 474G>C LUSC-KR 1 150808955 150808955 single base substitution C G missense_variant L167F 501G>C LUSC-KR 1 150808955 150808955 single base substitution C G upstream_gene_variant LUSC-KR 1 150811614 150811614 single base substitution G T downstream_gene_variant LUSC-KR 1 150811614 150811614 single base substitution G T intron_variant LUSC-KR 1 150811614 150811614 single base substitution G T upstream_gene_variant LUSC-KR 1 150814693 150814693 single base substitution C A intron_variant LUSC-KR 1 150823464 150823464 single base substitution T G intron_variant LUSC-KR 1 150823691 150823691 single base substitution G T intron_variant LUSC-KR 1 150824186 150824186 single base substitution A G intron_variant LUSC-KR 1 150824203 150824203 single base substitution C T intron_variant LUSC-KR 1 150824270 150824270 single base substitution C T intron_variant LUSC-KR 1 150826292 150826292 single base substitution A T intron_variant LUSC-KR 1 150826536 150826536 single base substitution C G intron_variant LUSC-KR 1 150834948 150834948 single base substitution T G intron_variant LUSC-KR 1 150835938 150835938 single base substitution T C intron_variant LUSC-KR 1 150844170 150844170 single base substitution G A intron_variant LUSC-KR 1 150846545 150846545 single base substitution T A intron_variant LUSC-KR 1 150849227 150849227 single base substitution G A 5_prime_UTR_variant LUSC-KR 1 150849227 150849227 single base substitution G A upstream_gene_variant LUSC-KR 1 150851473 150851473 single base substitution T A upstream_gene_variant LUSC-KR 1 150853793 150853793 single base substitution G A upstream_gene_variant LUSC-US 1 150779234 150779234 single base substitution C A downstream_gene_variant LUSC-US 1 150784532 150784532 single base substitution G A 3_prime_UTR_variant LUSC-US 1 150784532 150784532 single base substitution G A missense_variant P764S 2290C>T LUSC-US 1 150784532 150784532 single base substitution G A missense_variant P765S 2293C>T LUSC-US 1 150784532 150784532 single base substitution G A missense_variant P777S 2329C>T LUSC-US 1 150784532 150784532 single base substitution G A missense_variant P779S 2335C>T LUSC-US 1 150790443 150790443 single base substitution G A 3_prime_UTR_variant LUSC-US 1 150790443 150790443 single base substitution G A exon_variant LUSC-US 1 150790443 150790443 single base substitution G A synonymous_variant P471P 1413C>T LUSC-US 1 150790443 150790443 single base substitution G A synonymous_variant P472P 1416C>T LUSC-US 1 150790443 150790443 single base substitution G A synonymous_variant P486P 1458C>T MALY-DE 1 150786619 150786619 single base substitution C T downstream_gene_variant MALY-DE 1 150786619 150786619 single base substitution C T intron_variant MALY-DE 1 150786619 150786619 single base substitution C T missense_variant G668S 2002G>A MALY-DE 1 150786619 150786619 single base substitution C T missense_variant G669S 2005G>A MALY-DE 1 150786619 150786619 single base substitution C T missense_variant G681S 2041G>A MALY-DE 1 150786619 150786619 single base substitution C T missense_variant G683S 2047G>A MALY-DE 1 150789594 150789594 single base substitution G A downstream_gene_variant MALY-DE 1 150789594 150789594 single base substitution G A intron_variant MALY-DE 1 150789594 150789594 single base substitution G A missense_variant P540S 1618C>T MALY-DE 1 150789594 150789594 single base substitution G A missense_variant P541S 1621C>T MALY-DE 1 150789594 150789594 single base substitution G A missense_variant P555S 1663C>T MALY-DE 1 150798328 150798328 single base substitution A G downstream_gene_variant MALY-DE 1 150798328 150798328 single base substitution A G intron_variant MALY-DE 1 150801645 150801645 single base substitution A G downstream_gene_variant MALY-DE 1 150801645 150801645 single base substitution A G exon_variant MALY-DE 1 150801645 150801645 single base substitution A G missense_variant I349T 1046T>C MALY-DE 1 150801645 150801645 single base substitution A G missense_variant I350T 1049T>C MALY-DE 1 150801645 150801645 single base substitution A G missense_variant I364T 1091T>C MALY-DE 1 150802823 150802823 single base substitution C T downstream_gene_variant MALY-DE 1 150802823 150802823 single base substitution C T exon_variant MALY-DE 1 150802823 150802823 single base substitution C T intron_variant MALY-DE 1 150807294 150807294 single base substitution C T downstream_gene_variant MALY-DE 1 150807294 150807294 single base substitution C T exon_variant MALY-DE 1 150807294 150807294 single base substitution C T intron_variant MALY-DE 1 150807294 150807294 single base substitution C T upstream_gene_variant MALY-DE 1 150810336 150810336 insertion of <=200bp - A downstream_gene_variant MALY-DE 1 150810336 150810336 insertion of <=200bp - A intron_variant MALY-DE 1 150810336 150810336 insertion of <=200bp - A upstream_gene_variant MALY-DE 1 150822689 150822689 single base substitution C T intron_variant MALY-DE 1 150827456 150827456 deletion of <=200bp A - intron_variant MALY-DE 1 150827562 150827562 single base substitution G A intron_variant MALY-DE 1 150839175 150839176 deletion of <=200bp AC - intron_variant MALY-DE 1 150839686 150839686 single base substitution A C intron_variant MALY-DE 1 150840294 150840294 single base substitution G T intron_variant MALY-DE 1 150844612 150844612 single base substitution T G intron_variant MALY-DE 1 150846145 150846145 single base substitution A T intron_variant MALY-DE 1 150846169 150846169 single base substitution A C intron_variant MELA-AU 1 150777495 150777495 single base substitution C T downstream_gene_variant MELA-AU 1 150777894 150777894 single base substitution G A downstream_gene_variant MELA-AU 1 150778041 150778041 single base substitution G A downstream_gene_variant MELA-AU 1 150778617 150778617 single base substitution G A downstream_gene_variant MELA-AU 1 150778656 150778656 single base substitution C A downstream_gene_variant MELA-AU 1 150779619 150779619 single base substitution G A downstream_gene_variant MELA-AU 1 150781274 150781274 single base substitution T C downstream_gene_variant MELA-AU 1 150781641 150781641 single base substitution C T downstream_gene_variant MELA-AU 1 150782159 150782159 single base substitution T C downstream_gene_variant MELA-AU 1 150782391 150782392 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 1 150782391 150782392 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 150782832 150782832 single base substitution A G 3_prime_UTR_variant MELA-AU 1 150782832 150782832 single base substitution A G downstream_gene_variant MELA-AU 1 150783393 150783393 single base substitution G A 3_prime_UTR_variant MELA-AU 1 150783393 150783393 single base substitution G A downstream_gene_variant MELA-AU 1 150783951 150783951 single base substitution C G 3_prime_UTR_variant MELA-AU 1 150783951 150783951 single base substitution C G downstream_gene_variant MELA-AU 1 150784513 150784513 single base substitution G A 3_prime_UTR_variant MELA-AU 1 150784513 150784513 single base substitution G A missense_variant P770L 2309C>T MELA-AU 1 150784513 150784513 single base substitution G A missense_variant P771L 2312C>T MELA-AU 1 150784513 150784513 single base substitution G A missense_variant P783L 2348C>T MELA-AU 1 150784513 150784513 single base substitution G A missense_variant P785L 2354C>T MELA-AU 1 150784830 150784830 single base substitution G A intron_variant MELA-AU 1 150784831 150784831 single base substitution G A intron_variant MELA-AU 1 150785237 150785237 single base substitution G A downstream_gene_variant MELA-AU 1 150785237 150785237 single base substitution G A intron_variant MELA-AU 1 150786583 150786583 single base substitution G A 3_prime_UTR_variant MELA-AU 1 150786583 150786583 single base substitution G A downstream_gene_variant MELA-AU 1 150786583 150786583 single base substitution G A missense_variant P680S 2038C>T MELA-AU 1 150786583 150786583 single base substitution G A missense_variant P681S 2041C>T MELA-AU 1 150786583 150786583 single base substitution G A missense_variant P693S 2077C>T MELA-AU 1 150786583 150786583 single base substitution G A missense_variant P695S 2083C>T MELA-AU 1 150786876 150786876 single base substitution C T downstream_gene_variant MELA-AU 1 150786876 150786876 single base substitution C T intron_variant MELA-AU 1 150788866 150788866 single base substitution G A downstream_gene_variant MELA-AU 1 150788866 150788866 single base substitution G A intron_variant MELA-AU 1 150788866 150788866 single base substitution G A missense_variant P592S 1774C>T MELA-AU 1 150788866 150788866 single base substitution G A missense_variant P593S 1777C>T MELA-AU 1 150788866 150788866 single base substitution G A missense_variant P605S 1813C>T MELA-AU 1 150788866 150788866 single base substitution G A missense_variant P607S 1819C>T MELA-AU 1 150788917 150788917 single base substitution G A downstream_gene_variant MELA-AU 1 150788917 150788917 single base substitution G A intron_variant MELA-AU 1 150789284 150789284 single base substitution G A downstream_gene_variant MELA-AU 1 150789284 150789284 single base substitution G A intron_variant MELA-AU 1 150789284 150789284 single base substitution G A synonymous_variant P579P 1737C>T MELA-AU 1 150789284 150789284 single base substitution G A synonymous_variant P580P 1740C>T MELA-AU 1 150789284 150789284 single base substitution G A synonymous_variant P594P 1782C>T MELA-AU 1 150789380 150789380 single base substitution G A downstream_gene_variant MELA-AU 1 150789380 150789380 single base substitution G A intron_variant MELA-AU 1 150789766 150789766 single base substitution C T downstream_gene_variant MELA-AU 1 150789766 150789766 single base substitution C T intron_variant MELA-AU 1 150789962 150789962 single base substitution A T intron_variant MELA-AU 1 150790212 150790212 single base substitution G A intron_variant MELA-AU 1 150790570 150790570 single base substitution A C exon_variant MELA-AU 1 150790570 150790570 single base substitution A C intron_variant MELA-AU 1 150790613 150790613 single base substitution C A exon_variant MELA-AU 1 150790613 150790613 single base substitution C A intron_variant MELA-AU 1 150791122 150791122 single base substitution G A intron_variant MELA-AU 1 150791122 150791122 single base substitution G A upstream_gene_variant MELA-AU 1 150791194 150791194 single base substitution C G intron_variant MELA-AU 1 150791194 150791194 single base substitution C G upstream_gene_variant MELA-AU 1 150791281 150791281 single base substitution G A intron_variant MELA-AU 1 150791281 150791281 single base substitution G A upstream_gene_variant MELA-AU 1 150791611 150791611 single base substitution C T intron_variant MELA-AU 1 150791611 150791611 single base substitution C T upstream_gene_variant MELA-AU 1 150792295 150792295 single base substitution G A intron_variant MELA-AU 1 150792295 150792295 single base substitution G A upstream_gene_variant MELA-AU 1 150792297 150792297 single base substitution A C intron_variant MELA-AU 1 150792297 150792297 single base substitution A C upstream_gene_variant MELA-AU 1 150792905 150792905 single base substitution G A intron_variant MELA-AU 1 150792905 150792905 single base substitution G A upstream_gene_variant MELA-AU 1 150793384 150793384 single base substitution C T intron_variant MELA-AU 1 150793384 150793384 single base substitution C T upstream_gene_variant MELA-AU 1 150793931 150793931 single base substitution A C intron_variant MELA-AU 1 150793931 150793931 single base substitution A C upstream_gene_variant MELA-AU 1 150794188 150794188 single base substitution G A intron_variant MELA-AU 1 150794188 150794188 single base substitution G A upstream_gene_variant MELA-AU 1 150794947 150794947 single base substitution G A intron_variant MELA-AU 1 150794947 150794947 single base substitution G A upstream_gene_variant MELA-AU 1 150794995 150794995 single base substitution T G intron_variant MELA-AU 1 150794995 150794995 single base substitution T G upstream_gene_variant MELA-AU 1 150795023 150795023 single base substitution G A intron_variant MELA-AU 1 150795023 150795023 single base substitution G A upstream_gene_variant MELA-AU 1 150795205 150795205 single base substitution G A intron_variant MELA-AU 1 150795205 150795205 single base substitution G A upstream_gene_variant MELA-AU 1 150795599 150795599 single base substitution G A intron_variant MELA-AU 1 150795599 150795599 single base substitution G A upstream_gene_variant MELA-AU 1 150795719 150795719 single base substitution G A intron_variant MELA-AU 1 150795719 150795719 single base substitution G A missense_variant P434S 1300C>T MELA-AU 1 150795719 150795719 single base substitution G A missense_variant P435S 1303C>T MELA-AU 1 150795719 150795719 single base substitution G A missense_variant P449S 1345C>T MELA-AU 1 150795719 150795719 single base substitution G A upstream_gene_variant MELA-AU 1 150796161 150796162 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 150796787 150796787 single base substitution G A downstream_gene_variant MELA-AU 1 150796787 150796787 single base substitution G A intron_variant MELA-AU 1 150798144 150798144 single base substitution G A downstream_gene_variant MELA-AU 1 150798144 150798144 single base substitution G A intron_variant MELA-AU 1 150798491 150798492 multiple base substitution (>=2bp and <=200bp) GT AG downstream_gene_variant MELA-AU 1 150798491 150798492 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 1 150798525 150798525 single base substitution G A downstream_gene_variant MELA-AU 1 150798525 150798525 single base substitution G A intron_variant MELA-AU 1 150798691 150798691 single base substitution G A downstream_gene_variant MELA-AU 1 150798691 150798691 single base substitution G A intron_variant MELA-AU 1 150799257 150799257 single base substitution A G downstream_gene_variant MELA-AU 1 150799257 150799257 single base substitution A G intron_variant MELA-AU 1 150799526 150799526 single base substitution G A downstream_gene_variant MELA-AU 1 150799526 150799526 single base substitution G A intron_variant MELA-AU 1 150799577 150799577 single base substitution G A downstream_gene_variant MELA-AU 1 150799577 150799577 single base substitution G A intron_variant MELA-AU 1 150799588 150799588 single base substitution G A downstream_gene_variant MELA-AU 1 150799588 150799588 single base substitution G A intron_variant MELA-AU 1 150799774 150799774 single base substitution C T downstream_gene_variant MELA-AU 1 150799774 150799774 single base substitution C T intron_variant MELA-AU 1 150800004 150800004 single base substitution T C downstream_gene_variant MELA-AU 1 150800004 150800004 single base substitution T C intron_variant MELA-AU 1 150800318 150800318 single base substitution T C downstream_gene_variant MELA-AU 1 150800318 150800318 single base substitution T C intron_variant MELA-AU 1 150800600 150800600 single base substitution G A downstream_gene_variant MELA-AU 1 150800600 150800600 single base substitution G A intron_variant MELA-AU 1 150800815 150800815 single base substitution G A downstream_gene_variant MELA-AU 1 150800815 150800815 single base substitution G A intron_variant MELA-AU 1 150800826 150800826 single base substitution G T downstream_gene_variant MELA-AU 1 150800826 150800826 single base substitution G T intron_variant MELA-AU 1 150801159 150801159 single base substitution G A downstream_gene_variant MELA-AU 1 150801159 150801159 single base substitution G A intron_variant MELA-AU 1 150801495 150801495 single base substitution T C downstream_gene_variant MELA-AU 1 150801495 150801495 single base substitution T C intron_variant MELA-AU 1 150801604 150801604 single base substitution G A downstream_gene_variant MELA-AU 1 150801604 150801604 single base substitution G A exon_variant MELA-AU 1 150801604 150801604 single base substitution G A missense_variant H363Y 1087C>T MELA-AU 1 150801604 150801604 single base substitution G A missense_variant H364Y 1090C>T MELA-AU 1 150801604 150801604 single base substitution G A missense_variant H378Y 1132C>T MELA-AU 1 150801617 150801617 single base substitution G A downstream_gene_variant MELA-AU 1 150801617 150801617 single base substitution G A exon_variant MELA-AU 1 150801617 150801617 single base substitution G A synonymous_variant F358F 1074C>T MELA-AU 1 150801617 150801617 single base substitution G A synonymous_variant F359F 1077C>T MELA-AU 1 150801617 150801617 single base substitution G A synonymous_variant F373F 1119C>T MELA-AU 1 150801736 150801736 single base substitution G A downstream_gene_variant MELA-AU 1 150801736 150801736 single base substitution G A intron_variant MELA-AU 1 150802171 150802171 single base substitution G A downstream_gene_variant MELA-AU 1 150802171 150802171 single base substitution G A intron_variant MELA-AU 1 150802490 150802490 single base substitution G A downstream_gene_variant MELA-AU 1 150802490 150802490 single base substitution G A exon_variant MELA-AU 1 150802490 150802490 single base substitution G A intron_variant MELA-AU 1 150802809 150802809 single base substitution G A downstream_gene_variant MELA-AU 1 150802809 150802809 single base substitution G A exon_variant MELA-AU 1 150802809 150802809 single base substitution G A intron_variant MELA-AU 1 150803046 150803046 single base substitution A T downstream_gene_variant MELA-AU 1 150803046 150803046 single base substitution A T intron_variant MELA-AU 1 150803046 150803046 single base substitution A T upstream_gene_variant MELA-AU 1 150803238 150803238 single base substitution G A downstream_gene_variant MELA-AU 1 150803238 150803238 single base substitution G A intron_variant MELA-AU 1 150803238 150803238 single base substitution G A upstream_gene_variant MELA-AU 1 150803844 150803844 single base substitution G A downstream_gene_variant MELA-AU 1 150803844 150803844 single base substitution G A intron_variant MELA-AU 1 150803844 150803844 single base substitution G A upstream_gene_variant MELA-AU 1 150804476 150804477 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 150804476 150804477 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 150804476 150804477 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 150804642 150804642 single base substitution G A downstream_gene_variant MELA-AU 1 150804642 150804642 single base substitution G A intron_variant MELA-AU 1 150804642 150804642 single base substitution G A upstream_gene_variant MELA-AU 1 150805285 150805285 single base substitution T G downstream_gene_variant MELA-AU 1 150805285 150805285 single base substitution T G intron_variant MELA-AU 1 150805285 150805285 single base substitution T G upstream_gene_variant MELA-AU 1 150805454 150805454 single base substitution G A downstream_gene_variant MELA-AU 1 150805454 150805454 single base substitution G A intron_variant MELA-AU 1 150805454 150805454 single base substitution G A upstream_gene_variant MELA-AU 1 150806269 150806269 single base substitution G A downstream_gene_variant MELA-AU 1 150806269 150806269 single base substitution G A intron_variant MELA-AU 1 150806269 150806269 single base substitution G A upstream_gene_variant MELA-AU 1 150806858 150806858 single base substitution C T downstream_gene_variant MELA-AU 1 150806858 150806858 single base substitution C T intron_variant MELA-AU 1 150806858 150806858 single base substitution C T upstream_gene_variant MELA-AU 1 150808086 150808086 single base substitution G A downstream_gene_variant MELA-AU 1 150808086 150808086 single base substitution G A intron_variant MELA-AU 1 150808086 150808086 single base substitution G A upstream_gene_variant MELA-AU 1 150808254 150808254 single base substitution G A downstream_gene_variant MELA-AU 1 150808254 150808254 single base substitution G A intron_variant MELA-AU 1 150808254 150808254 single base substitution G A upstream_gene_variant MELA-AU 1 150808282 150808282 single base substitution G A downstream_gene_variant MELA-AU 1 150808282 150808282 single base substitution G A intron_variant MELA-AU 1 150808282 150808282 single base substitution G A upstream_gene_variant MELA-AU 1 150808792 150808792 single base substitution G A downstream_gene_variant MELA-AU 1 150808792 150808792 single base substitution G A exon_variant MELA-AU 1 150808792 150808792 single base substitution G A missense_variant R207C 619C>T MELA-AU 1 150808792 150808792 single base substitution G A missense_variant R213C 637C>T MELA-AU 1 150808792 150808792 single base substitution G A missense_variant R222C 664C>T MELA-AU 1 150808792 150808792 single base substitution G A upstream_gene_variant MELA-AU 1 150808984 150808984 single base substitution G A downstream_gene_variant MELA-AU 1 150808984 150808984 single base substitution G A intron_variant MELA-AU 1 150808984 150808984 single base substitution G A upstream_gene_variant MELA-AU 1 150809145 150809145 single base substitution G A downstream_gene_variant MELA-AU 1 150809145 150809145 single base substitution G A intron_variant MELA-AU 1 150809145 150809145 single base substitution G A upstream_gene_variant MELA-AU 1 150809294 150809294 single base substitution G A downstream_gene_variant MELA-AU 1 150809294 150809294 single base substitution G A intron_variant MELA-AU 1 150809294 150809294 single base substitution G A upstream_gene_variant MELA-AU 1 150809338 150809338 single base substitution G A downstream_gene_variant MELA-AU 1 150809338 150809338 single base substitution G A intron_variant MELA-AU 1 150809338 150809338 single base substitution G A upstream_gene_variant MELA-AU 1 150809600 150809600 single base substitution G A downstream_gene_variant MELA-AU 1 150809600 150809600 single base substitution G A intron_variant MELA-AU 1 150809600 150809600 single base substitution G A upstream_gene_variant MELA-AU 1 150809720 150809721 deletion of <=200bp TC - downstream_gene_variant MELA-AU 1 150809720 150809721 deletion of <=200bp TC - intron_variant MELA-AU 1 150809720 150809721 deletion of <=200bp TC - upstream_gene_variant MELA-AU 1 150810155 150810155 single base substitution G A downstream_gene_variant MELA-AU 1 150810155 150810155 single base substitution G A intron_variant MELA-AU 1 150810155 150810155 single base substitution G A upstream_gene_variant MELA-AU 1 150810248 150810248 single base substitution G A downstream_gene_variant MELA-AU 1 150810248 150810248 single base substitution G A intron_variant MELA-AU 1 150810248 150810248 single base substitution G A upstream_gene_variant MELA-AU 1 150811032 150811032 single base substitution G A downstream_gene_variant MELA-AU 1 150811032 150811032 single base substitution G A intron_variant MELA-AU 1 150811032 150811032 single base substitution G A upstream_gene_variant MELA-AU 1 150812273 150812273 single base substitution A G intron_variant MELA-AU 1 150812273 150812273 single base substitution A G upstream_gene_variant MELA-AU 1 150813303 150813303 single base substitution G A intron_variant MELA-AU 1 150813303 150813303 single base substitution G A upstream_gene_variant MELA-AU 1 150814175 150814175 single base substitution G A intron_variant MELA-AU 1 150814595 150814595 single base substitution G A intron_variant MELA-AU 1 150814849 150814849 single base substitution G A intron_variant MELA-AU 1 150815016 150815016 single base substitution G A intron_variant MELA-AU 1 150815280 150815280 single base substitution G A intron_variant MELA-AU 1 150815984 150815984 single base substitution A C intron_variant MELA-AU 1 150816152 150816152 single base substitution A G intron_variant MELA-AU 1 150817075 150817075 single base substitution G A intron_variant MELA-AU 1 150817654 150817654 single base substitution G A intron_variant MELA-AU 1 150818071 150818071 single base substitution G A intron_variant MELA-AU 1 150818442 150818442 single base substitution T C intron_variant MELA-AU 1 150818614 150818614 single base substitution G A intron_variant MELA-AU 1 150818650 150818651 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 1 150818674 150818674 single base substitution G A intron_variant MELA-AU 1 150819069 150819070 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 150819311 150819311 single base substitution C T intron_variant MELA-AU 1 150819929 150819929 single base substitution G A intron_variant MELA-AU 1 150820753 150820753 single base substitution G A intron_variant MELA-AU 1 150820778 150820778 deletion of <=200bp A - intron_variant MELA-AU 1 150821222 150821222 single base substitution G A intron_variant MELA-AU 1 150821402 150821402 single base substitution G A intron_variant MELA-AU 1 150821499 150821499 single base substitution G A intron_variant MELA-AU 1 150821504 150821504 single base substitution A T intron_variant MELA-AU 1 150822150 150822150 single base substitution G A intron_variant MELA-AU 1 150822333 150822333 single base substitution G A intron_variant MELA-AU 1 150822352 150822352 single base substitution C T intron_variant MELA-AU 1 150822917 150822917 single base substitution C T intron_variant MELA-AU 1 150823383 150823383 single base substitution G A intron_variant MELA-AU 1 150824486 150824486 single base substitution T C intron_variant MELA-AU 1 150824501 150824501 single base substitution A C intron_variant MELA-AU 1 150824669 150824669 single base substitution A G intron_variant MELA-AU 1 150824771 150824771 single base substitution G A intron_variant MELA-AU 1 150824898 150824898 single base substitution G A intron_variant MELA-AU 1 150825014 150825014 single base substitution A G intron_variant MELA-AU 1 150825153 150825153 single base substitution G A intron_variant MELA-AU 1 150825291 150825291 single base substitution A G exon_variant MELA-AU 1 150825291 150825291 single base substitution A G intron_variant MELA-AU 1 150825329 150825329 single base substitution A T intron_variant MELA-AU 1 150825643 150825643 single base substitution G A 3_prime_UTR_variant MELA-AU 1 150825643 150825643 single base substitution G A intron_variant MELA-AU 1 150827049 150827049 single base substitution G A intron_variant MELA-AU 1 150827813 150827813 single base substitution G A intron_variant MELA-AU 1 150828627 150828627 single base substitution G A intron_variant MELA-AU 1 150828698 150828698 single base substitution G A intron_variant MELA-AU 1 150829835 150829835 single base substitution A G intron_variant MELA-AU 1 150831664 150831664 single base substitution G A intron_variant MELA-AU 1 150832497 150832497 single base substitution G A intron_variant MELA-AU 1 150834499 150834500 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 150835975 150835975 single base substitution G A intron_variant MELA-AU 1 150836200 150836200 single base substitution G A intron_variant MELA-AU 1 150836756 150836756 single base substitution C A intron_variant MELA-AU 1 150837378 150837378 single base substitution A G intron_variant MELA-AU 1 150837455 150837455 single base substitution G A intron_variant MELA-AU 1 150837834 150837834 single base substitution G A intron_variant MELA-AU 1 150837849 150837849 single base substitution G A intron_variant MELA-AU 1 150838056 150838056 single base substitution C T intron_variant MELA-AU 1 150838332 150838332 single base substitution G A intron_variant MELA-AU 1 150839501 150839505 deletion of <=200bp GTGAA - intron_variant MELA-AU 1 150840074 150840074 single base substitution G A intron_variant MELA-AU 1 150840601 150840601 single base substitution G A intron_variant MELA-AU 1 150841301 150841301 single base substitution G A intron_variant MELA-AU 1 150841861 150841861 single base substitution G A intron_variant MELA-AU 1 150841880 150841880 single base substitution G A intron_variant MELA-AU 1 150842833 150842833 single base substitution G A intron_variant MELA-AU 1 150844144 150844144 single base substitution G A intron_variant MELA-AU 1 150844278 150844278 single base substitution G A intron_variant MELA-AU 1 150844290 150844290 single base substitution G A intron_variant MELA-AU 1 150844469 150844469 single base substitution A T intron_variant MELA-AU 1 150844698 150844698 single base substitution G A intron_variant MELA-AU 1 150845246 150845246 single base substitution C T intron_variant MELA-AU 1 150845279 150845279 single base substitution A T intron_variant MELA-AU 1 150845409 150845409 single base substitution G A intron_variant MELA-AU 1 150845490 150845490 single base substitution G A intron_variant MELA-AU 1 150845911 150845911 single base substitution G A intron_variant MELA-AU 1 150846789 150846789 single base substitution G C intron_variant MELA-AU 1 150847212 150847212 single base substitution G A intron_variant MELA-AU 1 150847281 150847281 single base substitution A T intron_variant MELA-AU 1 150848039 150848039 single base substitution G A intron_variant MELA-AU 1 150849105 150849105 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 150849105 150849105 single base substitution G A upstream_gene_variant MELA-AU 1 150849246 150849246 single base substitution G A upstream_gene_variant MELA-AU 1 150849307 150849307 single base substitution C T upstream_gene_variant MELA-AU 1 150849315 150849315 single base substitution G A upstream_gene_variant MELA-AU 1 150850137 150850137 single base substitution C T upstream_gene_variant MELA-AU 1 150850406 150850406 single base substitution G A upstream_gene_variant MELA-AU 1 150850463 150850463 single base substitution C T upstream_gene_variant MELA-AU 1 150850861 150850861 single base substitution C T upstream_gene_variant MELA-AU 1 150851103 150851103 single base substitution C T upstream_gene_variant MELA-AU 1 150851114 150851114 single base substitution C T upstream_gene_variant MELA-AU 1 150851569 150851569 single base substitution C T upstream_gene_variant MELA-AU 1 150851891 150851891 single base substitution G A upstream_gene_variant MELA-AU 1 150851919 150851919 single base substitution C T upstream_gene_variant MELA-AU 1 150852301 150852301 single base substitution G A upstream_gene_variant MELA-AU 1 150852520 150852520 single base substitution G A upstream_gene_variant MELA-AU 1 150852632 150852632 single base substitution G A upstream_gene_variant MELA-AU 1 150852705 150852705 single base substitution C T upstream_gene_variant MELA-AU 1 150852786 150852786 single base substitution C T upstream_gene_variant MELA-AU 1 150853120 150853120 single base substitution C T upstream_gene_variant MELA-AU 1 150853321 150853321 single base substitution G A upstream_gene_variant ORCA-IN 1 150820260 150820260 single base substitution C T intron_variant ORCA-IN 1 150848168 150848168 single base substitution G T intron_variant OV-AU 1 150782492 150782492 single base substitution C T 3_prime_UTR_variant OV-AU 1 150782492 150782492 single base substitution C T downstream_gene_variant OV-AU 1 150784125 150784125 single base substitution C T 3_prime_UTR_variant OV-AU 1 150784125 150784125 single base substitution C T downstream_gene_variant OV-AU 1 150786669 150786708 deletion of <=200bp CCAAACTGGGAAGTACGAGTCTTAGCAGTAGCCTGGGTAG - downstream_gene_variant OV-AU 1 150786669 150786708 deletion of <=200bp CCAAACTGGGAAGTACGAGTCTTAGCAGTAGCCTGGGTAG - frameshift_variant ATQATAKTRTSQFG638 OV-AU 1 150786669 150786708 deletion of <=200bp CCAAACTGGGAAGTACGAGTCTTAGCAGTAGCCTGGGTAG - frameshift_variant ATQATAKTRTSQFG639 OV-AU 1 150786669 150786708 deletion of <=200bp CCAAACTGGGAAGTACGAGTCTTAGCAGTAGCCTGGGTAG - frameshift_variant ATQATAKTRTSQFG651 OV-AU 1 150786669 150786708 deletion of <=200bp CCAAACTGGGAAGTACGAGTCTTAGCAGTAGCCTGGGTAG - frameshift_variant ATQATAKTRTSQFG653 OV-AU 1 150786669 150786708 deletion of <=200bp CCAAACTGGGAAGTACGAGTCTTAGCAGTAGCCTGGGTAG - intron_variant OV-AU 1 150793069 150793069 single base substitution G T intron_variant OV-AU 1 150793069 150793069 single base substitution G T upstream_gene_variant OV-AU 1 150805491 150805491 single base substitution A C downstream_gene_variant OV-AU 1 150805491 150805491 single base substitution A C intron_variant OV-AU 1 150805491 150805491 single base substitution A C upstream_gene_variant OV-AU 1 150808378 150808378 single base substitution C A downstream_gene_variant OV-AU 1 150808378 150808378 single base substitution C A intron_variant OV-AU 1 150808378 150808378 single base substitution C A upstream_gene_variant OV-AU 1 150823116 150823116 single base substitution A C intron_variant OV-AU 1 150823276 150823276 single base substitution C T intron_variant OV-AU 1 150823738 150823738 single base substitution G A intron_variant OV-AU 1 150824574 150824574 single base substitution G A intron_variant OV-AU 1 150829059 150829059 single base substitution T C intron_variant OV-AU 1 150830584 150830584 single base substitution C T intron_variant OV-AU 1 150848891 150848891 single base substitution C G intron_variant OV-AU 1 150850335 150850335 single base substitution A T upstream_gene_variant PACA-AU 1 150780611 150780611 single base substitution C T downstream_gene_variant PACA-AU 1 150782906 150782906 single base substitution A T 3_prime_UTR_variant PACA-AU 1 150782906 150782906 single base substitution A T downstream_gene_variant PACA-AU 1 150785906 150785906 single base substitution T C downstream_gene_variant PACA-AU 1 150785906 150785906 single base substitution T C intron_variant PACA-AU 1 150794973 150794973 single base substitution C G intron_variant PACA-AU 1 150794973 150794973 single base substitution C G upstream_gene_variant PACA-AU 1 150800062 150800062 single base substitution G T downstream_gene_variant PACA-AU 1 150800062 150800062 single base substitution G T intron_variant PACA-AU 1 150800067 150800067 single base substitution A T downstream_gene_variant PACA-AU 1 150800067 150800067 single base substitution A T intron_variant PACA-AU 1 150804411 150804411 single base substitution A C downstream_gene_variant PACA-AU 1 150804411 150804411 single base substitution A C intron_variant PACA-AU 1 150804411 150804411 single base substitution A C upstream_gene_variant PACA-AU 1 150804812 150804812 single base substitution G A downstream_gene_variant PACA-AU 1 150804812 150804812 single base substitution G A splice_region_variant PACA-AU 1 150804812 150804812 single base substitution G A upstream_gene_variant PACA-AU 1 150804897 150804897 single base substitution T C downstream_gene_variant PACA-AU 1 150804897 150804897 single base substitution T C intron_variant PACA-AU 1 150804897 150804897 single base substitution T C upstream_gene_variant PACA-AU 1 150818603 150818603 single base substitution A G intron_variant PACA-AU 1 150818673 150818673 single base substitution G A intron_variant PACA-AU 1 150821364 150821364 single base substitution A C intron_variant PACA-AU 1 150821913 150821913 single base substitution C A intron_variant PACA-AU 1 150825240 150825240 single base substitution C A missense_variant L51F 153G>T PACA-AU 1 150825240 150825240 single base substitution C A missense_variant L60F 180G>T PACA-AU 1 150825240 150825240 single base substitution C A splice_region_variant PACA-AU 1 150828386 150828387 deletion of <=200bp TG - intron_variant PACA-AU 1 150832796 150832796 single base substitution A T intron_variant PACA-AU 1 150834915 150834915 single base substitution A C intron_variant PACA-AU 1 150835856 150835856 single base substitution T G intron_variant PACA-AU 1 150838044 150838044 single base substitution C A intron_variant PACA-AU 1 150839089 150839089 single base substitution C T intron_variant PACA-AU 1 150849738 150849738 single base substitution C A upstream_gene_variant PACA-AU 1 150850138 150850138 single base substitution G A upstream_gene_variant PACA-AU 1 150850884 150850884 single base substitution T G upstream_gene_variant PACA-AU 1 150850904 150850904 single base substitution C A upstream_gene_variant PACA-CA 1 150779775 150779775 single base substitution G A downstream_gene_variant PACA-CA 1 150782267 150782267 deletion of <=200bp C - 3_prime_UTR_variant PACA-CA 1 150782267 150782267 deletion of <=200bp C - downstream_gene_variant PACA-CA 1 150786118 150786118 single base substitution T A downstream_gene_variant PACA-CA 1 150786118 150786118 single base substitution T A intron_variant PACA-CA 1 150789953 150789953 single base substitution T A intron_variant PACA-CA 1 150790321 150790321 insertion of <=200bp - A intron_variant PACA-CA 1 150796351 150796351 single base substitution G A intron_variant PACA-CA 1 150798110 150798110 single base substitution A C downstream_gene_variant PACA-CA 1 150798110 150798110 single base substitution A C intron_variant PACA-CA 1 150798286 150798286 single base substitution T C downstream_gene_variant PACA-CA 1 150798286 150798286 single base substitution T C intron_variant PACA-CA 1 150805639 150805639 single base substitution T C downstream_gene_variant PACA-CA 1 150805639 150805639 single base substitution T C intron_variant PACA-CA 1 150805639 150805639 single base substitution T C upstream_gene_variant PACA-CA 1 150810007 150810007 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 150810007 150810007 deletion of <=200bp T - intron_variant PACA-CA 1 150810007 150810007 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 150813208 150813208 single base substitution C G intron_variant PACA-CA 1 150813208 150813208 single base substitution C G upstream_gene_variant PACA-CA 1 150814264 150814264 single base substitution C G intron_variant PACA-CA 1 150817115 150817115 insertion of <=200bp - A intron_variant PACA-CA 1 150820360 150820360 single base substitution G A intron_variant PACA-CA 1 150825185 150825185 single base substitution C A intron_variant PACA-CA 1 150825366 150825366 single base substitution G A intron_variant PACA-CA 1 150825733 150825733 single base substitution G T exon_variant PACA-CA 1 150825733 150825733 single base substitution G T intron_variant PACA-CA 1 150827812 150827812 single base substitution C T intron_variant PACA-CA 1 150832363 150832363 single base substitution G A intron_variant PACA-CA 1 150832815 150832815 single base substitution C A intron_variant PACA-CA 1 150833119 150833119 single base substitution G T intron_variant PACA-CA 1 150833601 150833601 single base substitution T C intron_variant PACA-CA 1 150837854 150837854 single base substitution C T intron_variant PACA-CA 1 150838339 150838339 single base substitution A T intron_variant PACA-CA 1 150845615 150845615 single base substitution A T intron_variant PACA-CA 1 150847102 150847102 single base substitution T C intron_variant PACA-CA 1 150850603 150850603 insertion of <=200bp - GG upstream_gene_variant PACA-CA 1 150851586 150851586 insertion of <=200bp - A upstream_gene_variant PAEN-AU 1 150805979 150805979 single base substitution T C downstream_gene_variant PAEN-AU 1 150805979 150805979 single base substitution T C intron_variant PAEN-AU 1 150805979 150805979 single base substitution T C upstream_gene_variant PAEN-IT 1 150794464 150794464 single base substitution T C intron_variant PAEN-IT 1 150794464 150794464 single base substitution T C upstream_gene_variant PBCA-DE 1 150791658 150791658 single base substitution G A intron_variant PBCA-DE 1 150791658 150791658 single base substitution G A upstream_gene_variant PBCA-DE 1 150824275 150824275 single base substitution T C intron_variant PBCA-DE 1 150824519 150824519 insertion of <=200bp - A intron_variant PBCA-DE 1 150827954 150827954 single base substitution C T intron_variant PBCA-DE 1 150838151 150838151 single base substitution C T intron_variant PBCA-DE 1 150841680 150841680 single base substitution G A intron_variant PBCA-DE 1 150845274 150845274 insertion of <=200bp - A intron_variant PBCA-DE 1 150847204 150847204 single base substitution G C intron_variant PBCA-DE 1 150849588 150849588 insertion of <=200bp - AAAC upstream_gene_variant PBCA-DE 1 150849601 150849601 deletion of <=200bp G - upstream_gene_variant PRAD-CA 1 150777389 150777389 single base substitution T C downstream_gene_variant PRAD-CA 1 150781032 150781032 single base substitution A T downstream_gene_variant PRAD-CA 1 150786123 150786123 single base substitution A T downstream_gene_variant PRAD-CA 1 150786123 150786123 single base substitution A T intron_variant PRAD-CA 1 150789961 150789961 single base substitution A T intron_variant PRAD-CA 1 150815365 150815365 single base substitution C T intron_variant PRAD-CA 1 150825278 150825278 single base substitution C T 3_prime_UTR_variant PRAD-CA 1 150825278 150825278 single base substitution C T exon_variant PRAD-CA 1 150825278 150825278 single base substitution C T missense_variant D39N 115G>A PRAD-CA 1 150825278 150825278 single base substitution C T missense_variant D48N 142G>A PRAD-CA 1 150828104 150828104 single base substitution A G intron_variant PRAD-CA 1 150852313 150852313 single base substitution A G upstream_gene_variant PRAD-CA 1 150853568 150853568 single base substitution C T upstream_gene_variant PRAD-UK 1 150778938 150778938 single base substitution C T downstream_gene_variant PRAD-UK 1 150810084 150810084 single base substitution C G downstream_gene_variant PRAD-UK 1 150810084 150810084 single base substitution C G intron_variant PRAD-UK 1 150810084 150810084 single base substitution C G upstream_gene_variant PRAD-UK 1 150813270 150813270 single base substitution G T intron_variant PRAD-UK 1 150813270 150813270 single base substitution G T upstream_gene_variant PRAD-UK 1 150823878 150823878 deletion of <=200bp T - intron_variant PRAD-UK 1 150827370 150827370 single base substitution G C intron_variant PRAD-UK 1 150834329 150834329 single base substitution T C intron_variant PRAD-UK 1 150850573 150850628 deletion of <=200bp CTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAATTT - upstream_gene_variant PRAD-UK 1 150852057 150852057 single base substitution A C upstream_gene_variant PRAD-US 1 150789283 150789283 single base substitution G A downstream_gene_variant PRAD-US 1 150789283 150789283 single base substitution G A intron_variant PRAD-US 1 150789283 150789283 single base substitution G A missense_variant R580W 1738C>T PRAD-US 1 150789283 150789283 single base substitution G A missense_variant R581W 1741C>T PRAD-US 1 150789283 150789283 single base substitution G A missense_variant R595W 1783C>T PRAD-US 1 150790487 150790487 single base substitution G A 3_prime_UTR_variant PRAD-US 1 150790487 150790487 single base substitution G A exon_variant PRAD-US 1 150790487 150790487 single base substitution G A missense_variant R457W 1369C>T PRAD-US 1 150790487 150790487 single base substitution G A missense_variant R458W 1372C>T PRAD-US 1 150790487 150790487 single base substitution G A missense_variant R472W 1414C>T RECA-CN 1 150786561 150786561 single base substitution G T 3_prime_UTR_variant RECA-CN 1 150786561 150786561 single base substitution G T downstream_gene_variant RECA-CN 1 150786561 150786561 single base substitution G T missense_variant S687Y 2060C>A RECA-CN 1 150786561 150786561 single base substitution G T missense_variant S688Y 2063C>A RECA-CN 1 150786561 150786561 single base substitution G T missense_variant S700Y 2099C>A RECA-CN 1 150786561 150786561 single base substitution G T missense_variant S702Y 2105C>A RECA-EU 1 150782116 150782116 single base substitution A C downstream_gene_variant RECA-EU 1 150785642 150785642 single base substitution T A downstream_gene_variant RECA-EU 1 150785642 150785642 single base substitution T A splice_region_variant RECA-EU 1 150786209 150786209 single base substitution C G downstream_gene_variant RECA-EU 1 150786209 150786209 single base substitution C G intron_variant RECA-EU 1 150786645 150786645 single base substitution G A downstream_gene_variant RECA-EU 1 150786645 150786645 single base substitution G A intron_variant RECA-EU 1 150786645 150786645 single base substitution G A missense_variant S659F 1976C>T RECA-EU 1 150786645 150786645 single base substitution G A missense_variant S660F 1979C>T RECA-EU 1 150786645 150786645 single base substitution G A missense_variant S672F 2015C>T RECA-EU 1 150786645 150786645 single base substitution G A missense_variant S674F 2021C>T RECA-EU 1 150789463 150789463 single base substitution G T downstream_gene_variant RECA-EU 1 150789463 150789463 single base substitution G T intron_variant RECA-EU 1 150802017 150802017 single base substitution A G downstream_gene_variant RECA-EU 1 150802017 150802017 single base substitution A G intron_variant RECA-EU 1 150802243 150802243 single base substitution G A downstream_gene_variant RECA-EU 1 150802243 150802243 single base substitution G A intron_variant RECA-EU 1 150820747 150820747 single base substitution C T intron_variant RECA-EU 1 150847171 150847171 single base substitution A C intron_variant SKCA-BR 1 150778978 150778978 single base substitution G A downstream_gene_variant SKCA-BR 1 150779227 150779227 single base substitution C G downstream_gene_variant SKCA-BR 1 150779481 150779481 insertion of <=200bp - TTCTCTCTCTCTCTCTCTC downstream_gene_variant SKCA-BR 1 150779522 150779522 single base substitution A T downstream_gene_variant SKCA-BR 1 150779524 150779524 single base substitution T A downstream_gene_variant SKCA-BR 1 150780834 150780834 single base substitution A G downstream_gene_variant SKCA-BR 1 150781915 150781915 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 1 150782104 150782111 deletion of <=200bp CACACACA - downstream_gene_variant SKCA-BR 1 150782110 150782112 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 1 150782114 150782114 single base substitution A C downstream_gene_variant SKCA-BR 1 150782293 150782293 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 150782293 150782293 single base substitution A G downstream_gene_variant SKCA-BR 1 150784241 150784241 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 150784241 150784241 single base substitution G A downstream_gene_variant SKCA-BR 1 150784433 150784433 single base substitution A C 3_prime_UTR_variant SKCA-BR 1 150784433 150784433 single base substitution A C downstream_gene_variant SKCA-BR 1 150787681 150787681 single base substitution C T downstream_gene_variant SKCA-BR 1 150787681 150787681 single base substitution C T intron_variant SKCA-BR 1 150788357 150788357 single base substitution G A downstream_gene_variant SKCA-BR 1 150788357 150788357 single base substitution G A intron_variant SKCA-BR 1 150789613 150789613 single base substitution T A downstream_gene_variant SKCA-BR 1 150789613 150789613 single base substitution T A intron_variant SKCA-BR 1 150789613 150789613 single base substitution T A missense_variant L533F 1599A>T SKCA-BR 1 150789613 150789613 single base substitution T A missense_variant L534F 1602A>T SKCA-BR 1 150789613 150789613 single base substitution T A missense_variant L548F 1644A>T SKCA-BR 1 150792561 150792561 single base substitution T C intron_variant SKCA-BR 1 150792561 150792561 single base substitution T C upstream_gene_variant SKCA-BR 1 150794694 150794694 single base substitution G A intron_variant SKCA-BR 1 150794694 150794694 single base substitution G A upstream_gene_variant SKCA-BR 1 150797606 150797606 single base substitution G A downstream_gene_variant SKCA-BR 1 150797606 150797606 single base substitution G A intron_variant SKCA-BR 1 150798321 150798322 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 1 150798321 150798322 deletion of <=200bp TA - intron_variant SKCA-BR 1 150798659 150798659 single base substitution G T downstream_gene_variant SKCA-BR 1 150798659 150798659 single base substitution G T intron_variant SKCA-BR 1 150800825 150800826 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 1 150800825 150800826 deletion of <=200bp TG - intron_variant SKCA-BR 1 150801643 150801643 single base substitution A G downstream_gene_variant SKCA-BR 1 150801643 150801643 single base substitution A G exon_variant SKCA-BR 1 150801643 150801643 single base substitution A G missense_variant S350P 1048T>C SKCA-BR 1 150801643 150801643 single base substitution A G missense_variant S351P 1051T>C SKCA-BR 1 150801643 150801643 single base substitution A G missense_variant S365P 1093T>C SKCA-BR 1 150804401 150804401 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 1 150804401 150804401 insertion of <=200bp - GA intron_variant SKCA-BR 1 150804401 150804401 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 1 150804511 150804511 single base substitution C A downstream_gene_variant SKCA-BR 1 150804511 150804511 single base substitution C A intron_variant SKCA-BR 1 150804511 150804511 single base substitution C A upstream_gene_variant SKCA-BR 1 150807638 150807638 single base substitution G A downstream_gene_variant SKCA-BR 1 150807638 150807638 single base substitution G A intron_variant SKCA-BR 1 150807638 150807638 single base substitution G A upstream_gene_variant SKCA-BR 1 150808290 150808296 deletion of <=200bp GTACAGA - downstream_gene_variant SKCA-BR 1 150808290 150808296 deletion of <=200bp GTACAGA - intron_variant SKCA-BR 1 150808290 150808296 deletion of <=200bp GTACAGA - upstream_gene_variant SKCA-BR 1 150809218 150809218 single base substitution G A downstream_gene_variant SKCA-BR 1 150809218 150809218 single base substitution G A intron_variant SKCA-BR 1 150809218 150809218 single base substitution G A upstream_gene_variant SKCA-BR 1 150810155 150810155 single base substitution G A downstream_gene_variant SKCA-BR 1 150810155 150810155 single base substitution G A intron_variant SKCA-BR 1 150810155 150810155 single base substitution G A upstream_gene_variant SKCA-BR 1 150813357 150813357 single base substitution G T intron_variant SKCA-BR 1 150813357 150813357 single base substitution G T upstream_gene_variant SKCA-BR 1 150817898 150817898 single base substitution G A intron_variant SKCA-BR 1 150819901 150819901 insertion of <=200bp - CA intron_variant SKCA-BR 1 150820360 150820360 insertion of <=200bp - GGTT intron_variant SKCA-BR 1 150823454 150823454 single base substitution C T intron_variant SKCA-BR 1 150823456 150823456 single base substitution T A intron_variant SKCA-BR 1 150827321 150827321 single base substitution G A intron_variant SKCA-BR 1 150828690 150828690 single base substitution T G intron_variant SKCA-BR 1 150832694 150832694 single base substitution C T intron_variant SKCA-BR 1 150835053 150835054 deletion of <=200bp TA - intron_variant SKCA-BR 1 150835831 150835831 insertion of <=200bp - CA intron_variant SKCA-BR 1 150840614 150840614 single base substitution G A intron_variant SKCA-BR 1 150843760 150843760 single base substitution G A intron_variant SKCA-BR 1 150843770 150843771 deletion of <=200bp GT - intron_variant SKCA-BR 1 150849070 150849071 deletion of <=200bp CA - 5_prime_UTR_variant SKCA-BR 1 150849070 150849071 deletion of <=200bp CA - exon_variant SKCA-BR 1 150849070 150849071 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 1 150849230 150849230 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 150849230 150849230 single base substitution A G upstream_gene_variant SKCA-BR 1 150849232 150849232 single base substitution A C 5_prime_UTR_variant SKCA-BR 1 150849232 150849232 single base substitution A C upstream_gene_variant SKCA-BR 1 150849365 150849365 single base substitution G A upstream_gene_variant SKCM-US 1 150788808 150788808 single base substitution G A downstream_gene_variant SKCM-US 1 150788808 150788808 single base substitution G A intron_variant SKCM-US 1 150788808 150788808 single base substitution G A missense_variant S611F 1832C>T SKCM-US 1 150788808 150788808 single base substitution G A missense_variant S612F 1835C>T SKCM-US 1 150788808 150788808 single base substitution G A missense_variant S624F 1871C>T SKCM-US 1 150788808 150788808 single base substitution G A missense_variant S626F 1877C>T SKCM-US 1 150788865 150788865 single base substitution G A downstream_gene_variant SKCM-US 1 150788865 150788865 single base substitution G A intron_variant SKCM-US 1 150788865 150788865 single base substitution G A missense_variant P592L 1775C>T SKCM-US 1 150788865 150788865 single base substitution G A missense_variant P593L 1778C>T SKCM-US 1 150788865 150788865 single base substitution G A missense_variant P605L 1814C>T SKCM-US 1 150788865 150788865 single base substitution G A missense_variant P607L 1820C>T SKCM-US 1 150788882 150788882 single base substitution C T downstream_gene_variant SKCM-US 1 150788882 150788882 single base substitution C T intron_variant SKCM-US 1 150788882 150788882 single base substitution C T splice_region_variant SKCM-US 1 150789286 150789286 single base substitution G A downstream_gene_variant SKCM-US 1 150789286 150789286 single base substitution G A intron_variant SKCM-US 1 150789286 150789286 single base substitution G A missense_variant P579S 1735C>T SKCM-US 1 150789286 150789286 single base substitution G A missense_variant P580S 1738C>T SKCM-US 1 150789286 150789286 single base substitution G A missense_variant P594S 1780C>T SKCM-US 1 150795679 150795679 single base substitution G A intron_variant SKCM-US 1 150795679 150795679 single base substitution G A missense_variant T447I 1340C>T SKCM-US 1 150795679 150795679 single base substitution G A missense_variant T448I 1343C>T SKCM-US 1 150795679 150795679 single base substitution G A missense_variant T462I 1385C>T SKCM-US 1 150795679 150795679 single base substitution G A upstream_gene_variant SKCM-US 1 150795738 150795738 single base substitution G A intron_variant SKCM-US 1 150795738 150795738 single base substitution G A synonymous_variant S427S 1281C>T SKCM-US 1 150795738 150795738 single base substitution G A synonymous_variant S428S 1284C>T SKCM-US 1 150795738 150795738 single base substitution G A synonymous_variant S442S 1326C>T SKCM-US 1 150795738 150795738 single base substitution G A upstream_gene_variant SKCM-US 1 150795777 150795777 single base substitution G A intron_variant SKCM-US 1 150795777 150795777 single base substitution G A synonymous_variant F414F 1242C>T SKCM-US 1 150795777 150795777 single base substitution G A synonymous_variant F415F 1245C>T SKCM-US 1 150795777 150795777 single base substitution G A synonymous_variant F429F 1287C>T SKCM-US 1 150795777 150795777 single base substitution G A upstream_gene_variant SKCM-US 1 150801696 150801696 single base substitution C T downstream_gene_variant SKCM-US 1 150801696 150801696 single base substitution C T exon_variant SKCM-US 1 150801696 150801696 single base substitution C T missense_variant S332N 995G>A SKCM-US 1 150801696 150801696 single base substitution C T missense_variant S333N 998G>A SKCM-US 1 150801696 150801696 single base substitution C T missense_variant S347N 1040G>A SKCM-US 1 150802450 150802450 single base substitution G A downstream_gene_variant SKCM-US 1 150802450 150802450 single base substitution G A exon_variant SKCM-US 1 150802450 150802450 single base substitution G A intron_variant SKCM-US 1 150802450 150802450 single base substitution G A missense_variant S306F 917C>T SKCM-US 1 150802450 150802450 single base substitution G A missense_variant S321F 962C>T SKCM-US 1 150804340 150804340 single base substitution G A downstream_gene_variant SKCM-US 1 150804340 150804340 single base substitution G A exon_variant SKCM-US 1 150804340 150804340 single base substitution G A synonymous_variant F288F 864C>T SKCM-US 1 150804340 150804340 single base substitution G A synonymous_variant F294F 882C>T SKCM-US 1 150804340 150804340 single base substitution G A synonymous_variant F303F 909C>T SKCM-US 1 150804340 150804340 single base substitution G A upstream_gene_variant SKCM-US 1 150804825 150804825 single base substitution A C downstream_gene_variant SKCM-US 1 150804825 150804825 single base substitution A C exon_variant SKCM-US 1 150804825 150804825 single base substitution A C missense_variant V270G 809T>G SKCM-US 1 150804825 150804825 single base substitution A C missense_variant V276G 827T>G SKCM-US 1 150804825 150804825 single base substitution A C missense_variant V285G 854T>G SKCM-US 1 150804825 150804825 single base substitution A C upstream_gene_variant SKCM-US 1 150811929 150811929 single base substitution G A downstream_gene_variant SKCM-US 1 150811929 150811929 single base substitution G A exon_variant SKCM-US 1 150811929 150811929 single base substitution G A synonymous_variant F143F 429C>T SKCM-US 1 150811929 150811929 single base substitution G A synonymous_variant F149F 447C>T SKCM-US 1 150811929 150811929 single base substitution G A synonymous_variant F158F 474C>T SKCM-US 1 150811929 150811929 single base substitution G A upstream_gene_variant SKCM-US 1 150812123 150812123 single base substitution G A 3_prime_UTR_variant SKCM-US 1 150812123 150812123 single base substitution G A exon_variant SKCM-US 1 150812123 150812123 single base substitution G A missense_variant H79Y 235C>T SKCM-US 1 150812123 150812123 single base substitution G A missense_variant H85Y 253C>T SKCM-US 1 150812123 150812123 single base substitution G A missense_variant H94Y 280C>T SKCM-US 1 150812123 150812123 single base substitution G A upstream_gene_variant SKCM-US 1 150812125 150812125 single base substitution T C 3_prime_UTR_variant SKCM-US 1 150812125 150812125 single base substitution T C exon_variant SKCM-US 1 150812125 150812125 single base substitution T C missense_variant N78S 233A>G SKCM-US 1 150812125 150812125 single base substitution T C missense_variant N84S 251A>G SKCM-US 1 150812125 150812125 single base substitution T C missense_variant N93S 278A>G SKCM-US 1 150812125 150812125 single base substitution T C upstream_gene_variant SKCM-US 1 150830871 150830871 single base substitution G A exon_variant SKCM-US 1 150830871 150830871 single base substitution G A stop_gained Q22* 64C>T SKCM-US 1 150830871 150830871 single base substitution G A stop_gained Q31* 91C>T STAD-US 1 150778663 150778663 deletion of <=200bp T - downstream_gene_variant STAD-US 1 150784509 150784509 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P771 STAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P772 STAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P784 STAD-US 1 150784509 150784509 deletion of <=200bp G - frameshift_variant P786 STAD-US 1 150784538 150784538 single base substitution C A 3_prime_UTR_variant STAD-US 1 150784538 150784538 single base substitution C A stop_gained E762* 2284G>T STAD-US 1 150784538 150784538 single base substitution C A stop_gained E763* 2287G>T STAD-US 1 150784538 150784538 single base substitution C A stop_gained E775* 2323G>T STAD-US 1 150784538 150784538 single base substitution C A stop_gained E777* 2329G>T STAD-US 1 150786667 150786667 single base substitution C T downstream_gene_variant STAD-US 1 150786667 150786667 single base substitution C T intron_variant STAD-US 1 150786667 150786667 single base substitution C T missense_variant V652M 1954G>A STAD-US 1 150786667 150786667 single base substitution C T missense_variant V653M 1957G>A STAD-US 1 150786667 150786667 single base substitution C T missense_variant V665M 1993G>A STAD-US 1 150786667 150786667 single base substitution C T missense_variant V667M 1999G>A STAD-US 1 150789283 150789283 deletion of <=200bp G - downstream_gene_variant STAD-US 1 150789283 150789283 deletion of <=200bp G - frameshift_variant R580 STAD-US 1 150789283 150789283 deletion of <=200bp G - frameshift_variant R581 STAD-US 1 150789283 150789283 deletion of <=200bp G - frameshift_variant R595 STAD-US 1 150789283 150789283 deletion of <=200bp G - intron_variant STAD-US 1 150789854 150789854 single base substitution T C downstream_gene_variant STAD-US 1 150789854 150789854 single base substitution T C intron_variant STAD-US 1 150789854 150789854 single base substitution T C missense_variant S506G 1516A>G STAD-US 1 150789854 150789854 single base substitution T C missense_variant S507G 1519A>G STAD-US 1 150789854 150789854 single base substitution T C missense_variant S521G 1561A>G THCA-SA 1 150782797 150782797 single base substitution C T 3_prime_UTR_variant THCA-SA 1 150782797 150782797 single base substitution C T downstream_gene_variant THCA-SA 1 150789884 150789884 single base substitution C T exon_variant THCA-SA 1 150789884 150789884 single base substitution C T intron_variant THCA-SA 1 150789884 150789884 single base substitution C T missense_variant D496N 1486G>A THCA-SA 1 150789884 150789884 single base substitution C T missense_variant D497N 1489G>A THCA-SA 1 150789884 150789884 single base substitution C T missense_variant D511N 1531G>A UCEC-US 1 150778356 150778356 single base substitution A G downstream_gene_variant UCEC-US 1 150778367 150778367 single base substitution C A downstream_gene_variant UCEC-US 1 150786552 150786552 single base substitution C T downstream_gene_variant UCEC-US 1 150786552 150786552 single base substitution C T splice_donor_variant UCEC-US 1 150786565 150786565 single base substitution C A 3_prime_UTR_variant UCEC-US 1 150786565 150786565 single base substitution C A downstream_gene_variant UCEC-US 1 150786565 150786565 single base substitution C A stop_gained G686* 2056G>T UCEC-US 1 150786565 150786565 single base substitution C A stop_gained G687* 2059G>T UCEC-US 1 150786565 150786565 single base substitution C A stop_gained G699* 2095G>T UCEC-US 1 150786565 150786565 single base substitution C A stop_gained G701* 2101G>T UCEC-US 1 150789599 150789599 single base substitution C A downstream_gene_variant UCEC-US 1 150789599 150789599 single base substitution C A intron_variant UCEC-US 1 150789599 150789599 single base substitution C A missense_variant R538I 1613G>T UCEC-US 1 150789599 150789599 single base substitution C A missense_variant R539I 1616G>T UCEC-US 1 150789599 150789599 single base substitution C A missense_variant R553I 1658G>T UCEC-US 1 150802422 150802422 single base substitution G A downstream_gene_variant UCEC-US 1 150802422 150802422 single base substitution G A exon_variant UCEC-US 1 150802422 150802422 single base substitution G A synonymous_variant G315G 945C>T UCEC-US 1 150802422 150802422 single base substitution G A synonymous_variant G316G 948C>T UCEC-US 1 150802422 150802422 single base substitution G A synonymous_variant G330G 990C>T UCEC-US 1 150807021 150807021 single base substitution G A downstream_gene_variant UCEC-US 1 150807021 150807021 single base substitution G A exon_variant UCEC-US 1 150807021 150807021 single base substitution G A stop_gained R251* 751C>T UCEC-US 1 150807021 150807021 single base substitution G A stop_gained R257* 769C>T UCEC-US 1 150807021 150807021 single base substitution G A stop_gained R266* 796C>T UCEC-US 1 150807021 150807021 single base substitution G A upstream_gene_variant UCEC-US 1 150814904 150814904 single base substitution C T 3_prime_UTR_variant UCEC-US 1 150814904 150814904 single base substitution C T exon_variant UCEC-US 1 150814904 150814904 single base substitution C T intron_variant UCEC-US 1 150814904 150814904 single base substitution C T missense_variant A81T 241G>A UCEC-US 1 150814904 150814904 single base substitution C T missense_variant A90T 268G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SH-3776 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - Pat_24_A COSM5843573 c.2051C>T p.A684V Substitution - Missense 1:150814139-150814139 - sysucc-1370T COSM5469618 c.1113T>C p.G371G Substitution - coding silent 1:150829147-150829147 - CSCC-35-T COSM4532634 c.1900G>A p.G634R Substitution - Missense 1:150816309-150816309 - 587376 COSM1183661 c.1257A>C p.K419N Substitution - Missense 1:150823331-150823331 - JVM-2 COSM1738568 c.1834G>A p.V612I Substitution - Missense 1:150816375-150816375 - TCGA-EE-A2GS-06 COSM3473502 c.278A>G p.N93S Substitution - Missense 1:150839649-150839649 - ESCC_BICR_032T COSM5431890 c.1271C>G p.S424C Substitution - Missense 1:150823317-150823317 - WA48 COSM238850 c.697A>G p.T233A Substitution - Missense 1:150836283-150836283 - 587376 COSM1183660 c.1642T>G p.L548V Substitution - Missense 1:150817139-150817139 - TCGA-EE-A2GD-06 COSM3473493 c.1877C>T p.S626F Substitution - Missense 1:150816332-150816332 - C0092T COSM4140825 c.2021C>T p.S674F Substitution - Missense 1:150814169-150814169 - NCI-H720 COSM2182563 c.2018C>A p.P673Q Substitution - Missense 1:150814172-150814172 - 9-RS COSM1731770 c.1354G>A p.D452N Substitution - Missense 1:150823234-150823234 - A498 COSM1683236 c.1175_1176insG p.G393fs*11 Insertion - Frameshift 1:150826609-150826610 - RK060_C01 COSM3700480 c.2168T>A p.V723E Substitution - Missense 1:150813284-150813284 - TCGA-E9-A245-01 COSM1472584 c.1985C>A p.T662N Substitution - Missense 1:150814205-150814205 - SNUH_G16_S1 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - 18 COSM5744683 c.1505+2T>A p.? Unknown 1:150817918-150817918 - TCGA-EE-A2GJ-06 COSM3473498 c.1040G>A p.S347N Substitution - Missense 1:150829220-150829220 - TCGA-AZ-6598-01 COSM1333876 c.2358delC p.S788fs*>2 Deletion - Frameshift 1:150812033-150812033 - TCGA-EB-A430-01 COSM3473495 c.1780C>T p.P594S Substitution - Missense 1:150816810-150816810 - WSU-HN12 COSM4601188 c.1648G>T p.A550S Substitution - Missense 1:150817133-150817133 - PD1766a COSM28425 c.894T>C p.D298D Substitution - coding silent 1:150831879-150831879 - SH-3458 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - TCGA-EE-A29G-06 COSM3473500 c.474C>T p.F158F Substitution - coding silent 1:150839453-150839453 - GC8_T COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - SH-1679 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - ESCC_86 COSM5636508 c.759G>C p.M253I Substitution - Missense 1:150834582-150834582 - COLO-829 COSM22007 c.966C>T p.L322L Substitution - coding silent 1:150829970-150829970 - RMS2030 COSM5880498 c.1073G>T p.C358F Substitution - Missense 1:150829187-150829187 - TCGA-DK-A1A6-01 COSM1295002 c.1250A>G p.K417R Substitution - Missense 1:150823338-150823338 - B9-Tumor COSM3930385 c.312G>C p.K104N Substitution - Missense 1:150839615-150839615 - PT34 COSM1688504 c.962C>T p.S321F Substitution - Missense 1:150829974-150829974 - B86 COSM1747725 c.1836C>G p.V612V Substitution - coding silent 1:150816373-150816373 - B114-Tumor COSM3930384 c.2241A>C p.Q747H Substitution - Missense 1:150813211-150813211 - HCC94 COSM1600763 c.2114-3T>G p.? Unknown 1:150813341-150813341 - ACINAR13 COSM1733352 c.169A>T p.S57C Substitution - Missense 1:150852775-150852775 - TCGA-AP-A052-01 COSM895623 c.268G>A p.A90T Substitution - Missense 1:150842428-150842428 - CHC892T COSM4794647 c.228G>A p.R76R Substitution - coding silent 1:150842468-150842468 - 8066464 COSM3771442 c.867C>T p.C289C Substitution - coding silent 1:150832336-150832336 - TCGA-AG-3892-01 COSM256347 c.1524A>C p.T508T Substitution - coding silent 1:150817415-150817415 - ESO-081 COSM1243087 c.1836C>T p.V612V Substitution - coding silent 1:150816373-150816373 - 2492709 COSM3473501 c.280C>T p.H94Y Substitution - Missense 1:150839647-150839647 - 12T COSM109216 c.711G>A p.L237L Substitution - coding silent 1:150834630-150834630 - CSCC-29-T COSM4535713 c.2222G>A p.S741N Substitution - Missense 1:150813230-150813230 - 587284 COSM1183658 c.301C>T p.R101* Substitution - Nonsense 1:150839626-150839626 - LPJ119 COSM1316634 c.1482G>C p.M494I Substitution - Missense 1:150817943-150817943 - TCGA-EE-A29S-06 COSM3473503 c.91C>T p.Q31* Substitution - Nonsense 1:150858395-150858395 - SH-7032 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - 103515 COSM93913 c.767G>A p.C256Y Substitution - Missense 1:150834574-150834574 - TCGA-A5-A0G5-01 COSM895622 c.665G>C p.R222P Substitution - Missense 1:150836315-150836315 - 8044820 COSM1158059 c.180G>T p.L60F Substitution - Missense 1:150852764-150852764 - LUAD-RT-S01769 COSM380767 c.1292C>G p.S431C Substitution - Missense 1:150823296-150823296 - TCGA-IR-A3LB-01 COSM4829395 c.2167G>A p.V723M Substitution - Missense 1:150813285-150813285 - 49M COSM5589740 c.1570C>T p.H524Y Substitution - Missense 1:150817369-150817369 - TCGA-EB-A41A-01 COSM1688504 c.962C>T p.S321F Substitution - Missense 1:150829974-150829974 - RK233_C01 COSM4778477 c.797G>T p.R266L Substitution - Missense 1:150834544-150834544 - TCGA-FS-A1ZB-06 COSM3473501 c.280C>T p.H94Y Substitution - Missense 1:150839647-150839647 - HCC58 COSM3704958 c.1749A>G p.L583L Substitution - coding silent 1:150816841-150816841 - SH-9771 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - TARGET-30-PASTKC COSM1283508 c.485A>C p.Q162P Substitution - Missense 1:150839442-150839442 - PD9592a COSM5782474 c.1258G>C p.G420R Substitution - Missense 1:150823330-150823330 - TCGA-EJ-8472-01 COSM3782357 c.1783C>T p.R595W Substitution - Missense 1:150816807-150816807 - K44-Tumor COSM249266 c.2105C>A p.S702Y Substitution - Missense 1:150814085-150814085 - TCGA-BH-A0AU-01 COSM423788 c.739G>T p.E247* Substitution - Nonsense 1:150834602-150834602 - NCI-H1770 COSM22004 c.1095C>T p.S365S Substitution - coding silent 1:150829165-150829165 - TCGA-AP-A059-01 COSM895621 c.796C>T p.R266* Substitution - Nonsense 1:150834545-150834545 - 587342 COSM1183659 c.1395-1G>T p.? Unknown 1:150818031-150818031 - XHDG38 COSM4769657 c.744T>C p.G248G Substitution - coding silent 1:150834597-150834597 - ESCC-158T COSM205932 c.2353C>T p.P785S Substitution - Missense 1:150812038-150812038 - SC_9008 COSM5556722 c.2204A>G p.H735R Substitution - Missense 1:150813248-150813248 - ESCC-211T COSM3934082 c.797G>A p.R266Q Substitution - Missense 1:150834544-150834544 - LIM1215 COSM4220825 c.1845A>G p.S615S Substitution - coding silent 1:150816364-150816364 - LS180 COSM2182606 c.121A>G p.I41V Substitution - Missense 1:150858365-150858365 - CHC892T COSM4794647 c.228G>A p.R76R Substitution - coding silent 1:150842468-150842468 - HCC94T COSM1600763 c.2114-3T>G p.? Unknown 1:150813341-150813341 - ATL079 COSM5704912 c.1877C>G p.S626C Substitution - Missense 1:150816332-150816332 - TCGA-UB-A7ME-01 COSM4910168 c.1845A>T p.S615S Substitution - coding silent 1:150816364-150816364 - TCGA-AA-3672-01 COSM266042 c.1645T>A p.F549I Substitution - Missense 1:150817136-150817136 - 103T COSM1237711 c.2045C>G p.P682R Substitution - Missense 1:150814145-150814145 - TCGA-EB-A44P-01 COSM3862649 c.1803G>A p.R601R Substitution - coding silent 1:150816406-150816406 - TCGA-CD-A487-01 COSM4022050 c.1999G>A p.V667M Substitution - Missense 1:150814191-150814191 - TCGA-D9-A6EC-06 COSM3473501 c.280C>T p.H94Y Substitution - Missense 1:150839647-150839647 - RK190_C01 COSM3740641 c.2034C>T p.S678S Substitution - coding silent 1:150814156-150814156 - S12-11594-TP COSM4990452 c.1404C>T p.S468S Substitution - coding silent 1:150818021-150818021 - Pat_26_B COSM2182570 c.1783delC p.R595fs*11 Deletion - Frameshift 1:150816807-150816807 - TCGA-AP-A0LE-01 COSM895617 c.2113+1G>A p.? Unknown 1:150814076-150814076 - TCGA-EE-A29E-06 COSM3473497 c.1287C>T p.F429F Substitution - coding silent 1:150823301-150823301 - 100912 COSM93914 c.100G>C p.G34R Substitution - Missense 1:150858386-150858386 - S07-16280-TP COSM4990454 c.782G>A p.R261K Substitution - Missense 1:150834559-150834559 - TCGA-DA-A1I5-06 COSM3473499 c.854T>G p.V285G Substitution - Missense 1:150832349-150832349 - COLO-829 COSM22007 c.966C>T p.L322L Substitution - coding silent 1:150829970-150829970 - TCGA-KK-A59V-01 COSM4878565 c.1414C>T p.R472W Substitution - Missense 1:150818011-150818011 - SW48 COSM2182592 c.620G>A p.S207N Substitution - Missense 1:150836360-150836360 - TCGA-EE-A2MU-06 COSM2182588 c.909C>T p.F303F Substitution - coding silent 1:150831864-150831864 - CSCC-55-T COSM4496239 c.470C>T p.S157F Substitution - Missense 1:150839457-150839457 - 2492710 COSM3473501 c.280C>T p.H94Y Substitution - Missense 1:150839647-150839647 - TCGA-AU-6004-01 COSM1333878 c.1162C>T p.P388S Substitution - Missense 1:150829098-150829098 - TCGA-CM-4746-01 COSM1333880 c.218G>T p.R73L Substitution - Missense 1:150846272-150846272 - K44 COSM249266 c.2105C>A p.S702Y Substitution - Missense 1:150814085-150814085 - CSCC-44-T COSM4458640 c.1094C>A p.S365Y Substitution - Missense 1:150829166-150829166 - SH-7329 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - HCT8 COSM4633326 c.1518G>A p.Q506Q Substitution - coding silent 1:150817421-150817421 - 422 COSM4432282 c.295C>T p.R99W Substitution - Missense 1:150839632-150839632 - 587278 COSM205932 c.2353C>T p.P785S Substitution - Missense 1:150812038-150812038 - T3118 COSM4663453 c.1700-1G>A p.? Unknown 1:150816891-150816891 - TCGA-A5-A0GW-01 COSM895618 c.2101G>T p.G701* Substitution - Nonsense 1:150814089-150814089 - TCGA-EE-A2MR-06 COSM3473494 c.1820C>T p.P607L Substitution - Missense 1:150816389-150816389 - TCGA-BR-8680-01 COSM4022049 c.2329G>T p.E777* Substitution - Nonsense 1:150812062-150812062 - TCGA-JX-A3Q0-01 COSM4824589 c.1792G>T p.E598* Substitution - Nonsense 1:150816798-150816798 - pfg008T COSM1639492 c.374A>G p.K125R Substitution - Missense 1:150839553-150839553 - YUZINO COSM1688504 c.962C>T p.S321F Substitution - Missense 1:150829974-150829974 - 134417 COSM324754 c.638T>A p.V213E Substitution - Missense 1:150836342-150836342 - S00035 COSM5656578 c.25G>T p.E9* Substitution - Nonsense 1:150876543-150876543 - SH-1679 COSM5019533 c.1810G>A p.G604S Substitution - Missense 1:150816399-150816399 - SH-2871 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - T2926 COSM4663455 c.217C>T p.R73W Substitution - Missense 1:150846273-150846273 - TCGA-B0-4843-01 COSM3360312 c.1562G>C p.S521T Substitution - Missense 1:150817377-150817377 - T10 COSM5341546 c.487-5C>T p.? Unknown 1:150836498-150836498 - SNUH_G10_S1 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - TCGA-AP-A0LM-01 COSM895619 c.1658G>T p.R553I Substitution - Missense 1:150817123-150817123 - 2492708 COSM3473501 c.280C>T p.H94Y Substitution - Missense 1:150839647-150839647 - NCI-H1770 COSM22004 c.1095C>T p.S365S Substitution - coding silent 1:150829165-150829165 - 01-P8014 COSM4576240 c.1396A>C p.N466H Substitution - Missense 1:150818029-150818029 - LUAD-S01302 COSM395767 c.1567A>C p.N523H Substitution - Missense 1:150817372-150817372 - CPCG0268-F1 COSM4966801 c.142G>A p.D48N Substitution - Missense 1:150852802-150852802 - YUKAT COSM5377563 c.272+1G>A p.? Unknown 1:150842423-150842423 - TCGA-18-3409-01 COSM675524 c.2335C>T p.P779S Substitution - Missense 1:150812056-150812056 - TCGA-AA-3869-01 COSM296210 c.557T>G p.V186G Substitution - Missense 1:150836423-150836423 - 12T COSM106695 c.712G>A p.D238N Substitution - Missense 1:150834629-150834629 - TCGA-AA-3552-01 COSM292211 c.555G>A p.R185R Substitution - coding silent 1:150836425-150836425 - TCGA-CD-A4MG-01 COSM4022051 c.1561A>G p.S521G Substitution - Missense 1:150817378-150817378 - Pat_24_A COSM3934082 c.797G>A p.R266Q Substitution - Missense 1:150834544-150834544 - ccRCC-66 COSM1659884 c.2338G>C p.D780H Substitution - Missense 1:150812053-150812053 - HCC58T COSM3704958 c.1749A>G p.L583L Substitution - coding silent 1:150816841-150816841 - B86-Tumor COSM1747725 c.1836C>G p.V612V Substitution - coding silent 1:150816373-150816373 - T1760 COSM4663452 c.1981C>T p.R661C Substitution - Missense 1:150814209-150814209 - TCGA-EE-A3JD-06 COSM4396695 c.1326C>T p.S442S Substitution - coding silent 1:150823262-150823262 - MO_1124 COSM5564473 c.428G>T p.R143L Substitution - Missense 1:150839499-150839499 - C0048T COSM4140824 c.2280+6A>T p.? Unknown 1:150813166-150813166 - SNU-C4 COSM4615444 c.1783_1784insC p.R595fs*9 Insertion - Frameshift 1:150816806-150816807 - COLO-829 COSM22007 c.966C>T p.L322L Substitution - coding silent 1:150829970-150829970 - pfg008T COSM1639492 c.374A>G p.K125R Substitution - Missense 1:150839553-150839553 - S00836 COSM309287 c.1856G>A p.G619E Substitution - Missense 1:150816353-150816353 - TCGA-D5-6928-01 COSM1333879 c.384G>A p.K128K Substitution - coding silent 1:150839543-150839543 - S08-7608-TP COSM4990453 c.1287C>G p.F429L Substitution - Missense 1:150823301-150823301 - LS174T COSM2182606 c.121A>G p.I41V Substitution - Missense 1:150858365-150858365 - ESCC-003T COSM3934081 c.1594A>G p.T532A Substitution - Missense 1:150817187-150817187 - PACA37 COSM1158059 c.180G>T p.L60F Substitution - Missense 1:150852764-150852764 - Pat_22_B COSM2182570 c.1783delC p.R595fs*11 Deletion - Frameshift 1:150816807-150816807 - I2L-P10-Tumor-Organoid COSM5352605 c.1196T>G p.F399C Substitution - Missense 1:150826589-150826589 - TCGA-CH-5741-01 COSM1127398 c.1157A>C p.Y386S Substitution - Missense 1:150829103-150829103 - sysucc-882T COSM5446910 c.1854A>G p.A618A Substitution - coding silent 1:150816355-150816355 - TCGA-A8-A092-01 COSM423787 c.1106T>C p.I369T Substitution - Missense 1:150829154-150829154 - PD1766a COSM28425 c.894T>C p.D298D Substitution - coding silent 1:150831879-150831879 - tumor_4188900 COSM3356437 c.1663C>T p.P555S Substitution - Missense 1:150817118-150817118 - MO_1232 COSM5570172 c.1738A>G p.T580A Substitution - Missense 1:150816852-150816852 - SH-0348 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - PCSI_0295_Pa_P_526 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - SH-1362 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - SJACT020_D COSM4968538 c.2251C>G p.Q751E Substitution - Missense 1:150813201-150813201 - ACINAR13 COSM1733351 c.1844C>G p.S615* Substitution - Nonsense 1:150816365-150816365 - Pat_59_B COSM5843574 c.643C>T p.P215S Substitution - Missense 1:150836337-150836337 - CSCC-31-T COSM4512847 c.919C>T p.H307Y Substitution - Missense 1:150831854-150831854 - SH-1641 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - TCGA-AS-3777-01 COSM1491745 c.955+1G>A p.? Unknown 1:150831817-150831817 - PD24212a COSM5781072 c.1721C>G p.S574C Substitution - Missense 1:150816869-150816869 - TCGA-18-3409-01 COSM675523 c.1458C>T p.P486P Substitution - coding silent 1:150817967-150817967 - TCGA-EB-A5UN-06 COSM3473496 c.1385C>T p.T462I Substitution - Missense 1:150823203-150823203 - T3021 COSM4663454 c.1575C>T p.S525S Substitution - coding silent 1:150817364-150817364 - SNUH_G26_S1 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - SNU-175 COSM2182577 c.1387A>G p.N463D Substitution - Missense 1:150823201-150823201 - CSCC-55-T COSM4463219 c.1281C>T p.F427F Substitution - coding silent 1:150823307-150823307 - TCGA-A5-A0VP-01 COSM895620 c.990C>T p.G330G Substitution - coding silent 1:150829946-150829946 - CRC-8 COSM304473 c.424T>A p.L142M Substitution - Missense 1:150839503-150839503 - ccRCC-7 COSM1660634 c.292G>C p.E98Q Substitution - Missense 1:150839635-150839635 - TCGA-D8-A1XQ-01 COSM3801771 c.1175T>C p.L392S Substitution - Missense 1:150826610-150826610 - BD186T COSM5501170 c.1700-4A>G p.? Unknown 1:150816894-150816894 - TCGA-JX-A3Q0-01 COSM4824015 c.745C>G p.Q249E Substitution - Missense 1:150834596-150834596 - SH-6055 COSM146601 c.567G>C p.V189V Substitution - coding silent 1:150836413-150836413 - S02290 COSM2182603 c.272G>A p.R91K Substitution - Missense 1:150842424-150842424 - RK26-R11 COSM4411069 c.304C>T p.R102W Substitution - Missense 1:150839623-150839623 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632444;Hs.632446 1q21 126110 2435730|CGAP|BC060838|A/G|non-coding||3480|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V285G c.854T>G 1 150804825 CM A G Missense p.I369T c.1106T>C 1 150801630 BRCA A G Missense p.V415A c.1244T>C 1 150795820 COREAD A T Missense p.V213E c.638T>A 1 150808818 SCLC C A Missense p.R185S c.555G>T 1 150808901 HNSC C A Nonsense p.E247* c.739G>T 1 150807078 BRCA C A Nonsense p.G701* c.2101G>T 1 150786565 UCEC C G Missense p.S521T c.1562G>C 1 150789853 RCCC C G Synonymous p.L766L c.2298G>C 1 150784569 CM C T IntronicSNV . c.701-178G>A 1 150807294 DLBCL C T Missense p.A90T c.268G>A 1 150814904 UCEC C T Missense p.E223K c.667G>A 1 150808789 HNSC C T Missense p.E789K c.2365G>A 1 150784502 HNSC C T Missense p.G619E c.1856G>A 1 150788829 SCLC C T Missense p.S347N c.1040G>A 1 150801696 CM C T SpliceDonorSNV . c.2113+1G>A 1 150786552 UCEC C T Synonymous p.R185R c.555G>A 1 150808901 COREAD C T Synonymous p.R472R c.1416G>A 1 150790485 CM G A Missense p.H94Y c.280C>T 1 150812123 CM G A Missense p.P785S c.2353C>T 1 150784514 COREAD G A Missense p.S153F c.458C>T 1 150811945 CM G A Missense p.S626F c.1877C>T 1 150788808 CM G A Missense p.T610I c.1829C>T 1 150788856 CM G A Nonsense p.Q31* c.91C>T 1 150830871 CM G A Synonymous p.F158F c.474C>T 1 150811929 CM G A Synonymous p.F303F c.909C>T 1 150804340 CM G A Synonymous p.G330G c.990C>T 1 150802422 UCEC G A Synonymous p.S442S c.1326C>T 1 150795738 CM G - Frameshift p.P578Lfs*28 c.1733delC 1 150789333 LUAD GG AA Missense p.P682S c.2043_2044delinsTT 1 150786622 CM G T Missense p.T662N c.1985C>A 1 150786681 BRCA G T Synonymous p.L681L c.2043C>A 1 150786623 LUAD T C Missense p.K125R c.374A>G 1 150812029 STAD T C Missense p.K417R c.1250A>G 1 150795814 BLCA T C Missense p.N463S c.1388A>G 1 150795676 HNSC T C Missense p.N93S c.278A>G 1 150812125 CM T G Missense p.Q162P c.485A>C 1 150811918 NB