Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 85592293 85592293 + Missense_Mutation SNP G G A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr1:85592293G>A c.2212G>A c.(2212-2214)Gga>Aga p.G738R BLCA 1 85548061 85548061 + Missense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr1:85548061G>A c.364G>A c.(364-366)Gaa>Aaa p.E122K BLCA 1 85561640 85561640 + Silent SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:85561640C>A c.1200C>A c.(1198-1200)atC>atA p.I400I BLCA 1 85561676 85561676 + Silent SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:85561676C>A c.1236C>A c.(1234-1236)atC>atA p.I412I BLCA 1 85587495 85587495 + Missense_Mutation SNP T T C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr1:85587495T>C c.1979T>C c.(1978-1980)aTg>aCg p.M660T BLCA 1 85592370 85592370 + Missense_Mutation SNP C C G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr1:85592370C>G c.2289C>G c.(2287-2289)atC>atG p.I763M BLCA 1 85598547 85598547 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr1:85598547C>G c.2542C>G c.(2542-2544)Cag>Gag p.Q848E BRCA 1 85548084 85548084 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:85548084A>C c.387A>C c.(385-387)ttA>ttC p.L129F BRCA 1 85560164 85560164 + Missense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 g.chr1:85560164C>A c.1099C>A c.(1099-1101)Cac>Aac p.H367N BRCA 1 85564233 85564233 + Silent SNP G G A TCGA-LL-A441-01A-11D-A243-09 TCGA-LL-A441-10A-01D-A243-09 g.chr1:85564233G>A c.1371G>A c.(1369-1371)ccG>ccA p.P457P CESC 1 85555822 85555822 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 g.chr1:85555822C>T c.764C>T c.(763-765)aCg>aTg p.T255M CESC 1 85559238 85559238 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 g.chr1:85559238G>A c.955G>A c.(955-957)Gat>Aat p.D319N CESC 1 85560159 85560159 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:85560159G>C c.1094G>C c.(1093-1095)aGa>aCa p.R365T COAD 1 85537661 85537661 + Frame_Shift_Del DEL A A - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:85537661delA c.37delA c.(37-39)aaafs p.K14fs COAD 1 85538766 85538766 + Missense_Mutation SNP G G A TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr1:85538766G>A c.94G>A c.(94-96)Gag>Aag p.E32K COAD 1 85538768 85538768 + Silent SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:85538768G>A c.96G>A c.(94-96)gaG>gaA p.E32E COAD 1 85546976 85546976 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:85546976C>T c.163C>T c.(163-165)Cga>Tga p.R55* COAD 1 85550323 85550323 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:85550323C>A c.485C>A c.(484-486)tCt>tAt p.S162Y COAD 1 85551532 85551532 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:85551532C>T c.559C>T c.(559-561)Cga>Tga p.R187* COAD 1 85555908 85555908 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:85555908T>C c.850T>C c.(850-852)Tcc>Ccc p.S284P COAD 1 85559281 85559281 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:85559281G>T c.998G>T c.(997-999)aGc>aTc p.S333I COAD 1 85560133 85560133 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr1:85560133A>G c.1068A>G c.(1066-1068)gtA>gtG p.V356V COAD 1 85564234 85564234 + Missense_Mutation SNP G G A TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr1:85564234G>A c.1372G>A c.(1372-1374)Gag>Aag p.E458K COAD 1 85564235 85564235 + Missense_Mutation SNP A A G TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr1:85564235A>G c.1373A>G c.(1372-1374)gAg>gGg p.E458G COAD 1 85570238 85570238 + Missense_Mutation SNP G G A TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr1:85570238G>A c.1511G>A c.(1510-1512)cGa>cAa p.R504Q COAD 1 85570265 85570265 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:85570265C>T c.1538C>T c.(1537-1539)aCa>aTa p.T513I COAD 1 85587440 85587440 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:85587440G>A c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K COAD 1 85587468 85587468 + Frame_Shift_Del DEL A A - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:85587468delA c.1952delA c.(1951-1953)gaafs p.E651fs COAD 1 85589820 85589820 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:85589820C>T c.1998C>T c.(1996-1998)agC>agT p.S666S COAD 1 85592280 85592280 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:85592280C>T c.2199C>T c.(2197-2199)atC>atT p.I733I COAD 1 85594403 85594403 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:85594403T>G c.2330T>G c.(2329-2331)tTt>tGt p.F777C COAD 1 85594466 85594466 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:85594466G>A c.2393G>A c.(2392-2394)cGc>cAc p.R798H COAD 1 85595736 85595736 + Frame_Shift_Del DEL A A - TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:85595736delA c.2473delA c.(2473-2475)aaafs p.K826fs COAD 1 85595793 85595793 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:85595793G>A c.2530G>A c.(2530-2532)Gtt>Att p.V844I COAD 1 85598536 85598536 + Splice_Site SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:85598536A>T c.e23-1 COADREAD 1 85537661 85537661 + Frame_Shift_Del DEL A A - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:85537661delA c.37delA c.(37-39)aaafs p.K14fs COADREAD 1 85538766 85538766 + Missense_Mutation SNP G G A TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr1:85538766G>A c.94G>A c.(94-96)Gag>Aag p.E32K COADREAD 1 85538768 85538768 + Silent SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:85538768G>A c.96G>A c.(94-96)gaG>gaA p.E32E COADREAD 1 85546976 85546976 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:85546976C>T c.163C>T c.(163-165)Cga>Tga p.R55* COADREAD 1 85547091 85547091 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:85547091T>G c.278T>G c.(277-279)aTt>aGt p.I93S COADREAD 1 85550323 85550323 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:85550323C>A c.485C>A c.(484-486)tCt>tAt p.S162Y COADREAD 1 85551532 85551532 + Nonsense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:85551532C>T c.559C>T c.(559-561)Cga>Tga p.R187* COADREAD 1 85555844 85555844 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:85555844C>A c.786C>A c.(784-786)ttC>ttA p.F262L COADREAD 1 85555908 85555908 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:85555908T>C c.850T>C c.(850-852)Tcc>Ccc p.S284P COADREAD 1 85559281 85559281 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:85559281G>T c.998G>T c.(997-999)aGc>aTc p.S333I COADREAD 1 85560133 85560133 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr1:85560133A>G c.1068A>G c.(1066-1068)gtA>gtG p.V356V COADREAD 1 85564234 85564234 + Missense_Mutation SNP G G A TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr1:85564234G>A c.1372G>A c.(1372-1374)Gag>Aag p.E458K COADREAD 1 85564235 85564235 + Missense_Mutation SNP A A G TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr1:85564235A>G c.1373A>G c.(1372-1374)gAg>gGg p.E458G COADREAD 1 85570238 85570238 + Missense_Mutation SNP G G A TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr1:85570238G>A c.1511G>A c.(1510-1512)cGa>cAa p.R504Q COADREAD 1 85570265 85570265 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:85570265C>T c.1538C>T c.(1537-1539)aCa>aTa p.T513I COADREAD 1 85583461 85583461 + Silent SNP G G A TCGA-AG-3575-01A-01W-0831-10 TCGA-AG-3575-10A-01W-0831-10 g.chr1:85583461G>A c.1836G>A c.(1834-1836)ccG>ccA p.P612P COADREAD 1 85587440 85587440 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:85587440G>A c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K COADREAD 1 85587468 85587468 + Frame_Shift_Del DEL A A - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:85587468delA c.1952delA c.(1951-1953)gaafs p.E651fs COADREAD 1 85589820 85589820 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:85589820C>T c.1998C>T c.(1996-1998)agC>agT p.S666S COADREAD 1 85592280 85592280 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:85592280C>T c.2199C>T c.(2197-2199)atC>atT p.I733I COADREAD 1 85594403 85594403 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:85594403T>G c.2330T>G c.(2329-2331)tTt>tGt p.F777C COADREAD 1 85594466 85594466 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:85594466G>A c.2393G>A c.(2392-2394)cGc>cAc p.R798H COADREAD 1 85595736 85595736 + Frame_Shift_Del DEL A A - TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:85595736delA c.2473delA c.(2473-2475)aaafs p.K826fs COADREAD 1 85595793 85595793 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:85595793G>A c.2530G>A c.(2530-2532)Gtt>Att p.V844I COADREAD 1 85598536 85598536 + Splice_Site SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:85598536A>T c.e23-1 ESCA 1 85555813 85555813 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr1:85555813A>G c.755A>G c.(754-756)aAt>aGt p.N252S GBM 1 85551548 85551548 + Missense_Mutation SNP T T A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 g.chr1:85551548T>A c.575T>A c.(574-576)tTt>tAt p.F192Y GBM 1 85559260 85559260 + Missense_Mutation SNP A A T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr1:85559260A>T c.977A>T c.(976-978)cAg>cTg p.Q326L GBM 1 85560129 85560129 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 g.chr1:85560129C>T c.1064C>T c.(1063-1065)tCg>tTg p.S355L GBM 1 85564213 85564213 + Splice_Site SNP C C G TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr1:85564213C>G c.1351C>G c.(1351-1353)Cct>Gct p.P451A GBM 1 85592202 85592202 + Silent SNP G G A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr1:85592202G>A c.2121G>A c.(2119-2121)ccG>ccA p.P707P GBM 1 85595746 85595746 + Missense_Mutation SNP G G A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr1:85595746G>A c.2483G>A c.(2482-2484)cGt>cAt p.R828H GBMLGG 1 85546977 85546977 + Missense_Mutation SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr1:85546977G>T c.164G>T c.(163-165)cGa>cTa p.R55L GBMLGG 1 85547045 85547045 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85547045C>A c.232C>A c.(232-234)Ctg>Atg p.L78M GBMLGG 1 85551533 85551533 + Missense_Mutation SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 g.chr1:85551533G>A c.560G>A c.(559-561)cGa>cAa p.R187Q GBMLGG 1 85551548 85551548 + Missense_Mutation SNP T T A TCGA-02-2483-01A-01D-1494-08 TCGA-02-2483-10A-01D-1494-08 g.chr1:85551548T>A c.575T>A c.(574-576)tTt>tAt p.F192Y GBMLGG 1 85559185 85559185 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85559185T>G c.902T>G c.(901-903)aTt>aGt p.I301S GBMLGG 1 85559260 85559260 + Missense_Mutation SNP A A T TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr1:85559260A>T c.977A>T c.(976-978)cAg>cTg p.Q326L GBMLGG 1 85559315 85559315 + Missense_Mutation SNP G G C TCGA-TM-A84H-01A-11D-A36O-08 TCGA-TM-A84H-10A-01D-A367-08 g.chr1:85559315G>C c.1032G>C c.(1030-1032)tgG>tgC p.W344C GBMLGG 1 85560129 85560129 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 g.chr1:85560129C>T c.1064C>T c.(1063-1065)tCg>tTg p.S355L GBMLGG 1 85564213 85564213 + Splice_Site SNP C C G TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr1:85564213C>G c.1351C>G c.(1351-1353)Cct>Gct p.P451A GBMLGG 1 85589885 85589885 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85589885T>C c.2063T>C c.(2062-2064)aTt>aCt p.I688T GBMLGG 1 85592202 85592202 + Silent SNP G G A TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr1:85592202G>A c.2121G>A c.(2119-2121)ccG>ccA p.P707P GBMLGG 1 85592238 85592238 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85592238C>A c.2157C>A c.(2155-2157)acC>acA p.T719T GBMLGG 1 85595746 85595746 + Missense_Mutation SNP G G A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 g.chr1:85595746G>A c.2483G>A c.(2482-2484)cGt>cAt p.R828H HNSC 1 85547058 85547058 + Missense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr1:85547058C>A c.245C>A c.(244-246)gCt>gAt p.A82D HNSC 1 85550274 85550274 + Missense_Mutation SNP C C T TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr1:85550274C>T c.436C>T c.(436-438)Cct>Tct p.P146S HNSC 1 85555914 85555914 + Splice_Site SNP A A T TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr1:85555914A>T c.856A>T c.(856-858)Agt>Tgt p.S286C HNSC 1 85559220 85559220 + Missense_Mutation SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr1:85559220A>T c.937A>T c.(937-939)Acc>Tcc p.T313S HNSC 1 85561694 85561694 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr1:85561694C>G c.1254C>G c.(1252-1254)atC>atG p.I418M HNSC 1 85564339 85564339 + Missense_Mutation SNP G G A TCGA-HD-7754-01A-11D-2078-08 TCGA-HD-7754-10A-01D-2078-08 g.chr1:85564339G>A c.1477G>A c.(1477-1479)Gag>Aag p.E493K KIPAN 1 85546974 85546974 + Missense_Mutation SNP G G A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr1:85546974G>A c.161G>A c.(160-162)tGc>tAc p.C54Y KIPAN 1 85564293 85564293 + Silent SNP A A G TCGA-CJ-4901-01A-01D-1429-08 TCGA-CJ-4901-11A-01D-1429-08 g.chr1:85564293A>G c.1431A>G c.(1429-1431)ggA>ggG p.G477G KIRC 1 85546974 85546974 + Missense_Mutation SNP G G A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr1:85546974G>A c.161G>A c.(160-162)tGc>tAc p.C54Y KIRC 1 85564293 85564293 + Silent SNP A A G TCGA-CJ-4901-01A-01D-1429-08 TCGA-CJ-4901-11A-01D-1429-08 g.chr1:85564293A>G c.1431A>G c.(1429-1431)ggA>ggG p.G477G LGG 1 85546977 85546977 + Missense_Mutation SNP G G T TCGA-DU-6403-01A-11D-1705-08 TCGA-DU-6403-10A-01D-1705-08 g.chr1:85546977G>T c.164G>T c.(163-165)cGa>cTa p.R55L LGG 1 85547045 85547045 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85547045C>A c.232C>A c.(232-234)Ctg>Atg p.L78M LGG 1 85551533 85551533 + Missense_Mutation SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 g.chr1:85551533G>A c.560G>A c.(559-561)cGa>cAa p.R187Q LGG 1 85559185 85559185 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85559185T>G c.902T>G c.(901-903)aTt>aGt p.I301S LGG 1 85559315 85559315 + Missense_Mutation SNP G G C TCGA-TM-A84H-01A-11D-A36O-08 TCGA-TM-A84H-10A-01D-A367-08 g.chr1:85559315G>C c.1032G>C c.(1030-1032)tgG>tgC p.W344C LGG 1 85589885 85589885 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85589885T>C c.2063T>C c.(2062-2064)aTt>aCt p.I688T LGG 1 85592238 85592238 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:85592238C>A c.2157C>A c.(2155-2157)acC>acA p.T719T LIHC 1 85537689 85537689 + Splice_Site SNP G G A TCGA-DD-AACY-01A-11D-A40R-10 TCGA-DD-AACY-10A-01D-A40U-10 g.chr1:85537689G>A c.e2+1 LIHC 1 85551546 85551546 + Silent SNP A A G TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr1:85551546A>G c.573A>G c.(571-573)gaA>gaG p.E191E LIHC 1 85561679 85561679 + Silent SNP T T A TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr1:85561679T>A c.1239T>A c.(1237-1239)atT>atA p.I413I LIHC 1 85589863 85589863 + Missense_Mutation SNP T T C TCGA-DD-AAVV-01A-11D-A40R-10 TCGA-DD-AAVV-10A-01D-A40U-10 g.chr1:85589863T>C c.2041T>C c.(2041-2043)Tca>Cca p.S681P LIHC 1 85598554 85598555 + Frame_Shift_Ins INS - - A TCGA-DD-AAVP-01A-11D-A40R-10 TCGA-DD-AAVP-10A-01D-A40U-10 g.chr1:85598554_85598555insA c.2549_2550insA c.(2548-2553)tcaaaafs p.SK850fs LUAD 1 85547000 85547000 + Nonsense_Mutation SNP G G T TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr1:85547000G>T c.187G>T c.(187-189)Gaa>Taa p.E63* LUAD 1 85547055 85547055 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr1:85547055G>T c.242G>T c.(241-243)aGa>aTa p.R81I LUAD 1 85547062 85547062 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr1:85547062A>T c.249A>T c.(247-249)gcA>gcT p.A83A LUAD 1 85547082 85547082 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr1:85547082T>G c.269T>G c.(268-270)gTc>gGc p.V90G LUAD 1 85550363 85550363 + Silent SNP G G A TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr1:85550363G>A c.525G>A c.(523-525)acG>acA p.T175T LUAD 1 85555813 85555813 + Missense_Mutation SNP A A G TCGA-71-8520-01A-11D-2393-08 TCGA-71-8520-10A-01D-2393-08 g.chr1:85555813A>G c.755A>G c.(754-756)aAt>aGt p.N252S LUAD 1 85559237 85559237 + Silent SNP C C G TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr1:85559237C>G c.954C>G c.(952-954)acC>acG p.T318T LUAD 1 85561661 85561661 + Silent SNP G G A TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr1:85561661G>A c.1221G>A c.(1219-1221)ccG>ccA p.P407P LUAD 1 85561704 85561704 + Splice_Site SNP G G C TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr1:85561704G>C c.e11+1 LUAD 1 85573787 85573787 + Missense_Mutation SNP A A T TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr1:85573787A>T c.1625A>T c.(1624-1626)gAa>gTa p.E542V LUAD 1 85592309 85592309 + Nonsense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr1:85592309G>A c.2228G>A c.(2227-2229)tGg>tAg p.W743* LUAD 1 85592345 85592345 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr1:85592345C>A c.2264C>A c.(2263-2265)tCt>tAt p.S755Y LUAD 1 85595688 85595688 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr1:85595688C>A c.2425C>A c.(2425-2427)Cac>Aac p.H809N LUSC 1 85559204 85559204 + Silent SNP C C A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr1:85559204C>A c.921C>A c.(919-921)ctC>ctA p.L307L LUSC 1 85564330 85564330 + Missense_Mutation SNP G G A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 g.chr1:85564330G>A c.1468G>A c.(1468-1470)Gac>Aac p.D490N LUSC 1 85573813 85573813 + Missense_Mutation SNP C C G TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr1:85573813C>G c.1651C>G c.(1651-1653)Cca>Gca p.P551A LUSC 1 85592285 85592285 + Missense_Mutation SNP G G T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr1:85592285G>T c.2204G>T c.(2203-2205)cGa>cTa p.R735L OV 1 85538768 85538768 + Missense_Mutation SNP G G C TCGA-25-1329-01A-01W-0492-08 TCGA-25-1329-10A-01W-0492-08 g.chr1:85538768G>C c.96G>C c.(94-96)gaG>gaC p.E32D OV 1 85561635 85561635 + Missense_Mutation SNP G G A TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr1:85561635G>A c.1195G>A c.(1195-1197)Gac>Aac p.D399N OV 1 85564236 85564236 + Missense_Mutation SNP G G C TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 g.chr1:85564236G>C c.1374G>C c.(1372-1374)gaG>gaC p.E458D PAAD 1 85561704 85561704 + Splice_Site SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 g.chr1:85561704G>A c.e11+1 PAAD 1 85570251 85570251 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:85570251C>T c.1524C>T c.(1522-1524)tgC>tgT p.C508C PAAD 1 85575766 85575766 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr1:85575766C>T c.1734C>T c.(1732-1734)caC>caT p.H578H PCPG 1 85547042 85547042 + Missense_Mutation SNP G G A TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 g.chr1:85547042G>A c.229G>A c.(229-231)Gac>Aac p.D77N PRAD 1 85551600 85551600 + Silent SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:85551600C>A c.627C>A c.(625-627)gcC>gcA p.A209A PRAD 1 85589838 85589838 + Silent SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr1:85589838C>T c.2016C>T c.(2014-2016)gaC>gaT p.D672D READ 1 85547091 85547091 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:85547091T>G c.278T>G c.(277-279)aTt>aGt p.I93S READ 1 85555844 85555844 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:85555844C>A c.786C>A c.(784-786)ttC>ttA p.F262L READ 1 85583461 85583461 + Silent SNP G G A TCGA-AG-3575-01A-01W-0831-10 TCGA-AG-3575-10A-01W-0831-10 g.chr1:85583461G>A c.1836G>A c.(1834-1836)ccG>ccA p.P612P SARC 1 85555896 85555896 + Missense_Mutation SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 g.chr1:85555896C>T c.838C>T c.(838-840)Ctt>Ttt p.L280F SKCM 1 85547084 85547084 + Frame_Shift_Del DEL A A - TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 g.chr1:85547084delA c.271delA c.(271-273)aaafs p.K92fs SKCM 1 85559244 85559244 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:85559244C>T c.961C>T c.(961-963)Cac>Tac p.H321Y SKCM 1 85564319 85564319 + Missense_Mutation SNP A A G TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr1:85564319A>G c.1457A>G c.(1456-1458)cAc>cGc p.H486R SKCM 1 85570255 85570255 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:85570255C>T c.1528C>T c.(1528-1530)Caa>Taa p.Q510* SKCM 1 85573801 85573801 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:85573801C>T c.1639C>T c.(1639-1641)Cct>Tct p.P547S SKCM 1 85573801 85573801 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr1:85573801C>T c.1639C>T c.(1639-1641)Cct>Tct p.P547S SKCM 1 85573824 85573824 + Missense_Mutation SNP T T A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr1:85573824T>A c.1662T>A c.(1660-1662)ttT>ttA p.F554L SKCM 1 85575818 85575818 + Splice_Site SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:85575818G>A c.1786G>A c.(1786-1788)Gac>Aac p.D596N SKCM 1 85587442 85587442 + Missense_Mutation SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:85587442A>T c.1926A>T c.(1924-1926)gaA>gaT p.E642D SKCM 1 85595745 85595745 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr1:85595745C>T c.2482C>T c.(2482-2484)Cgt>Tgt p.R828C SKCM 1 85595757 85595757 + Missense_Mutation SNP A A C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr1:85595757A>C c.2494A>C c.(2494-2496)Aag>Cag p.K832Q

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 85511044 85511044 single base substitution C T intron_variant BLCA-CN 1 85559242 85559242 single base substitution C T exon_variant BLCA-CN 1 85559242 85559242 single base substitution C T missense_variant T281I 842C>T BLCA-CN 1 85559242 85559242 single base substitution C T missense_variant T320I 959C>T BLCA-CN 1 85564324 85564324 single base substitution T A 3_prime_UTR_variant BLCA-CN 1 85564324 85564324 single base substitution T A missense_variant L449M 1345T>A BLCA-CN 1 85564324 85564324 single base substitution T A missense_variant L488M 1462T>A BLCA-US 1 85498382 85498382 single base substitution C T intron_variant BLCA-US 1 85498432 85498432 single base substitution G C intron_variant BLCA-US 1 85592370 85592370 single base substitution C G 3_prime_UTR_variant BLCA-US 1 85592370 85592370 single base substitution C G missense_variant I45M 135C>G BLCA-US 1 85592370 85592370 single base substitution C G missense_variant I724M 2172C>G BLCA-US 1 85592370 85592370 single base substitution C G missense_variant I763M 2289C>G BRCA-EU 1 85459830 85459830 single base substitution A G upstream_gene_variant BRCA-EU 1 85460191 85460222 deletion of <=200bp GCTTCGCCTTGCACTTACATGTTATAGAGATG - upstream_gene_variant BRCA-EU 1 85461421 85461421 single base substitution C G upstream_gene_variant BRCA-EU 1 85464562 85464562 single base substitution G A upstream_gene_variant BRCA-EU 1 85464896 85464896 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 85465384 85465384 single base substitution A G intron_variant BRCA-EU 1 85466457 85466457 single base substitution C A intron_variant BRCA-EU 1 85467237 85467237 single base substitution T A intron_variant BRCA-EU 1 85467239 85467239 deletion of <=200bp A - intron_variant BRCA-EU 1 85468030 85468030 single base substitution G A intron_variant BRCA-EU 1 85469067 85469067 single base substitution G C intron_variant BRCA-EU 1 85470953 85470953 single base substitution G T intron_variant BRCA-EU 1 85472735 85472735 single base substitution A G intron_variant BRCA-EU 1 85474845 85474845 single base substitution C T intron_variant BRCA-EU 1 85475312 85475312 single base substitution T C intron_variant BRCA-EU 1 85478014 85478014 single base substitution C T intron_variant BRCA-EU 1 85478970 85478970 single base substitution T G intron_variant BRCA-EU 1 85479663 85479663 single base substitution A C intron_variant BRCA-EU 1 85479827 85479827 single base substitution C G intron_variant BRCA-EU 1 85480016 85480016 single base substitution G T intron_variant BRCA-EU 1 85480206 85480206 single base substitution A G intron_variant BRCA-EU 1 85482694 85482694 single base substitution T C intron_variant BRCA-EU 1 85482860 85482860 single base substitution G A intron_variant BRCA-EU 1 85483473 85483473 insertion of <=200bp - T intron_variant BRCA-EU 1 85483674 85483674 single base substitution G C intron_variant BRCA-EU 1 85484867 85484867 single base substitution G C intron_variant BRCA-EU 1 85486445 85486445 single base substitution C G intron_variant BRCA-EU 1 85486583 85486583 single base substitution C T intron_variant BRCA-EU 1 85487153 85487153 single base substitution G C intron_variant BRCA-EU 1 85488121 85488121 single base substitution C A intron_variant BRCA-EU 1 85488220 85488220 single base substitution A G intron_variant BRCA-EU 1 85488833 85488833 single base substitution G A intron_variant BRCA-EU 1 85488948 85488948 single base substitution G C intron_variant BRCA-EU 1 85490806 85490806 single base substitution A T intron_variant BRCA-EU 1 85491015 85491015 single base substitution G T intron_variant BRCA-EU 1 85491044 85491044 single base substitution T A intron_variant BRCA-EU 1 85491169 85491169 single base substitution C T intron_variant BRCA-EU 1 85492206 85492206 single base substitution G A intron_variant BRCA-EU 1 85493504 85493504 single base substitution G C intron_variant BRCA-EU 1 85495610 85495610 deletion of <=200bp A - intron_variant BRCA-EU 1 85496150 85496150 single base substitution G C intron_variant BRCA-EU 1 85496272 85496272 single base substitution C G intron_variant BRCA-EU 1 85497494 85497494 single base substitution G A intron_variant BRCA-EU 1 85498139 85498139 single base substitution G C intron_variant BRCA-EU 1 85500530 85500530 single base substitution T C intron_variant BRCA-EU 1 85503283 85503283 single base substitution C T intron_variant BRCA-EU 1 85505473 85505473 single base substitution A T intron_variant BRCA-EU 1 85505951 85505951 single base substitution G T intron_variant BRCA-EU 1 85506961 85506961 single base substitution A T intron_variant BRCA-EU 1 85508680 85508680 single base substitution C G intron_variant BRCA-EU 1 85509994 85509994 deletion of <=200bp T - intron_variant BRCA-EU 1 85513527 85513527 single base substitution C G intron_variant BRCA-EU 1 85515847 85515847 single base substitution G C intron_variant BRCA-EU 1 85516095 85516095 single base substitution C G intron_variant BRCA-EU 1 85519386 85519386 single base substitution A C intron_variant BRCA-EU 1 85519477 85519477 single base substitution A T intron_variant BRCA-EU 1 85520160 85520160 single base substitution A T intron_variant BRCA-EU 1 85520730 85520730 deletion of <=200bp G - intron_variant BRCA-EU 1 85522052 85522052 single base substitution G T intron_variant BRCA-EU 1 85522603 85522603 single base substitution G C intron_variant BRCA-EU 1 85522929 85522929 single base substitution A T intron_variant BRCA-EU 1 85523994 85523994 single base substitution C A intron_variant BRCA-EU 1 85523994 85523994 single base substitution C A upstream_gene_variant BRCA-EU 1 85524258 85524258 single base substitution C T intron_variant BRCA-EU 1 85524258 85524258 single base substitution C T upstream_gene_variant BRCA-EU 1 85524754 85524754 single base substitution C A intron_variant BRCA-EU 1 85524754 85524754 single base substitution C A upstream_gene_variant BRCA-EU 1 85527227 85527227 single base substitution C G intron_variant BRCA-EU 1 85527227 85527227 single base substitution C G upstream_gene_variant BRCA-EU 1 85531320 85531320 single base substitution G A intron_variant BRCA-EU 1 85532262 85532262 single base substitution C T intron_variant BRCA-EU 1 85533539 85533539 single base substitution C A intron_variant BRCA-EU 1 85533861 85533861 single base substitution A T intron_variant BRCA-EU 1 85533953 85533961 deletion of <=200bp TCTTTCAAA - intron_variant BRCA-EU 1 85534497 85534497 single base substitution G C intron_variant BRCA-EU 1 85535194 85535194 single base substitution T A intron_variant BRCA-EU 1 85535947 85535947 single base substitution A T intron_variant BRCA-EU 1 85538429 85538429 single base substitution G C intron_variant BRCA-EU 1 85538861 85538861 single base substitution G T intron_variant BRCA-EU 1 85540533 85540533 single base substitution G A intron_variant BRCA-EU 1 85540593 85540596 deletion of <=200bp AATA - intron_variant BRCA-EU 1 85542068 85542068 single base substitution G A intron_variant BRCA-EU 1 85542440 85542440 single base substitution T C intron_variant BRCA-EU 1 85542906 85542906 single base substitution C T intron_variant BRCA-EU 1 85544069 85544069 single base substitution A T intron_variant BRCA-EU 1 85544695 85544695 single base substitution G C intron_variant BRCA-EU 1 85547538 85547538 single base substitution G T intron_variant BRCA-EU 1 85547539 85547539 single base substitution G T intron_variant BRCA-EU 1 85548676 85548676 single base substitution G A intron_variant BRCA-EU 1 85548689 85548689 single base substitution G C intron_variant BRCA-EU 1 85548741 85548741 single base substitution C G intron_variant BRCA-EU 1 85552987 85552987 single base substitution C T downstream_gene_variant BRCA-EU 1 85552987 85552987 single base substitution C T intron_variant BRCA-EU 1 85553271 85553271 single base substitution T C downstream_gene_variant BRCA-EU 1 85553271 85553271 single base substitution T C intron_variant BRCA-EU 1 85553716 85553716 single base substitution G A downstream_gene_variant BRCA-EU 1 85553716 85553716 single base substitution G A intron_variant BRCA-EU 1 85554075 85554075 single base substitution C G downstream_gene_variant BRCA-EU 1 85554075 85554075 single base substitution C G intron_variant BRCA-EU 1 85554379 85554379 single base substitution A G downstream_gene_variant BRCA-EU 1 85554379 85554379 single base substitution A G intron_variant BRCA-EU 1 85556971 85556971 insertion of <=200bp - A intron_variant BRCA-EU 1 85557655 85557655 single base substitution G A intron_variant BRCA-EU 1 85559358 85559358 deletion of <=200bp T - intron_variant BRCA-EU 1 85560429 85560429 single base substitution G C intron_variant BRCA-EU 1 85560438 85560438 single base substitution A C intron_variant BRCA-EU 1 85562556 85562556 single base substitution C T intron_variant BRCA-EU 1 85563011 85563011 single base substitution A G intron_variant BRCA-EU 1 85563274 85563274 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 85563274 85563274 single base substitution C G missense_variant A390G 1169C>G BRCA-EU 1 85563274 85563274 single base substitution C G missense_variant A429G 1286C>G BRCA-EU 1 85564324 85564324 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 85564324 85564324 single base substitution T C synonymous_variant L449L 1345T>C BRCA-EU 1 85564324 85564324 single base substitution T C synonymous_variant L488L 1462T>C BRCA-EU 1 85564405 85564405 single base substitution G C intron_variant BRCA-EU 1 85569434 85569434 single base substitution G T intron_variant BRCA-EU 1 85569471 85569471 single base substitution G A intron_variant BRCA-EU 1 85569491 85569491 single base substitution A G intron_variant BRCA-EU 1 85570268 85570268 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 85570268 85570268 single base substitution G A missense_variant C475Y 1424G>A BRCA-EU 1 85570268 85570268 single base substitution G A missense_variant C514Y 1541G>A BRCA-EU 1 85570820 85570820 single base substitution C G intron_variant BRCA-EU 1 85571616 85571616 single base substitution C T intron_variant BRCA-EU 1 85574399 85574399 single base substitution C T intron_variant BRCA-EU 1 85575890 85575890 single base substitution T A intron_variant BRCA-EU 1 85575930 85575930 single base substitution C T intron_variant BRCA-EU 1 85577021 85577021 single base substitution G C intron_variant BRCA-EU 1 85577859 85577859 single base substitution T C intron_variant BRCA-EU 1 85578420 85578420 single base substitution C G intron_variant BRCA-EU 1 85581431 85581431 single base substitution G A intron_variant BRCA-EU 1 85582026 85582026 single base substitution C T intron_variant BRCA-EU 1 85582106 85582106 single base substitution G C intron_variant BRCA-EU 1 85582465 85582465 single base substitution G C intron_variant BRCA-EU 1 85584245 85584245 single base substitution G C intron_variant BRCA-EU 1 85585289 85585289 single base substitution C A intron_variant BRCA-EU 1 85585625 85585625 single base substitution C T intron_variant BRCA-EU 1 85587445 85587445 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 85587445 85587445 single base substitution G C synonymous_variant V604V 1812G>C BRCA-EU 1 85587445 85587445 single base substitution G C synonymous_variant V643V 1929G>C BRCA-EU 1 85587445 85587445 single base substitution G C upstream_gene_variant BRCA-EU 1 85587678 85587678 single base substitution G A intron_variant BRCA-EU 1 85587678 85587678 single base substitution G A upstream_gene_variant BRCA-EU 1 85592004 85592004 single base substitution G C intron_variant BRCA-EU 1 85592004 85592004 single base substitution G C upstream_gene_variant BRCA-EU 1 85592189 85592189 insertion of <=200bp - TAAAGACTGGACCGCTCC splice_region_variant BRCA-EU 1 85592189 85592189 insertion of <=200bp - TAAAGACTGGACCGCTCC upstream_gene_variant BRCA-EU 1 85592534 85592534 single base substitution C G intron_variant BRCA-EU 1 85593224 85593224 deletion of <=200bp T - intron_variant BRCA-EU 1 85594654 85594654 deletion of <=200bp A - intron_variant BRCA-EU 1 85594712 85594712 single base substitution G A intron_variant BRCA-EU 1 85596070 85596070 single base substitution A C downstream_gene_variant BRCA-EU 1 85596070 85596070 single base substitution A C intron_variant BRCA-EU 1 85596723 85596723 single base substitution T C downstream_gene_variant BRCA-EU 1 85596723 85596723 single base substitution T C intron_variant BRCA-EU 1 85596910 85596918 deletion of <=200bp ACGAGGTCA - downstream_gene_variant BRCA-EU 1 85596910 85596918 deletion of <=200bp ACGAGGTCA - intron_variant BRCA-EU 1 85596986 85596986 single base substitution G C downstream_gene_variant BRCA-EU 1 85596986 85596986 single base substitution G C intron_variant BRCA-EU 1 85596987 85596987 single base substitution C T downstream_gene_variant BRCA-EU 1 85596987 85596987 single base substitution C T intron_variant BRCA-EU 1 85598559 85598559 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 85598559 85598559 single base substitution G C downstream_gene_variant BRCA-EU 1 85598559 85598559 single base substitution G C missense_variant E813Q 2437G>C BRCA-EU 1 85598559 85598559 single base substitution G C missense_variant E852Q 2554G>C BRCA-EU 1 85598903 85598903 single base substitution G A downstream_gene_variant BRCA-EU 1 85599372 85599372 single base substitution C T downstream_gene_variant BRCA-EU 1 85599550 85599550 single base substitution A G downstream_gene_variant BRCA-EU 1 85600367 85600367 single base substitution G T downstream_gene_variant BRCA-EU 1 85600683 85600683 single base substitution G C downstream_gene_variant BRCA-EU 1 85600943 85600943 single base substitution G T downstream_gene_variant BRCA-EU 1 85602568 85602568 single base substitution A G downstream_gene_variant BRCA-EU 1 85602815 85602815 single base substitution G A downstream_gene_variant BRCA-FR 1 85463211 85463211 single base substitution G A upstream_gene_variant BRCA-FR 1 85465384 85465384 single base substitution A G intron_variant BRCA-FR 1 85483674 85483674 single base substitution G C intron_variant BRCA-FR 1 85488948 85488948 single base substitution G C intron_variant BRCA-FR 1 85515847 85515847 single base substitution G C intron_variant BRCA-FR 1 85519477 85519477 single base substitution A T intron_variant BRCA-FR 1 85522929 85522929 single base substitution A T intron_variant BRCA-FR 1 85526926 85526926 single base substitution G A intron_variant BRCA-FR 1 85526926 85526926 single base substitution G A upstream_gene_variant BRCA-FR 1 85534497 85534497 single base substitution G C intron_variant BRCA-FR 1 85538861 85538861 single base substitution G T intron_variant BRCA-FR 1 85542068 85542068 single base substitution G A intron_variant BRCA-FR 1 85574399 85574399 single base substitution C T intron_variant BRCA-FR 1 85575890 85575890 single base substitution T A intron_variant BRCA-FR 1 85580741 85580741 single base substitution C T intron_variant BRCA-FR 1 85591312 85591312 single base substitution G A intron_variant BRCA-FR 1 85591312 85591312 single base substitution G A upstream_gene_variant BRCA-FR 1 85594712 85594712 single base substitution G A intron_variant BRCA-UK 1 85471724 85471724 single base substitution G T intron_variant BRCA-UK 1 85473340 85473340 single base substitution C G intron_variant BRCA-UK 1 85501991 85501991 single base substitution C T intron_variant BRCA-UK 1 85553271 85553271 single base substitution T C downstream_gene_variant BRCA-UK 1 85553271 85553271 single base substitution T C intron_variant BRCA-UK 1 85559234 85559234 single base substitution G C exon_variant BRCA-UK 1 85559234 85559234 single base substitution G C missense_variant K278N 834G>C BRCA-UK 1 85559234 85559234 single base substitution G C missense_variant K317N 951G>C BRCA-UK 1 85562559 85562559 single base substitution C G intron_variant BRCA-US 1 85486834 85486834 single base substitution G C intron_variant BRCA-US 1 85487858 85487858 single base substitution A G intron_variant BRCA-US 1 85491636 85491636 single base substitution C T intron_variant BRCA-US 1 85491733 85491733 single base substitution T G intron_variant BRCA-US 1 85491960 85491960 single base substitution C G intron_variant BRCA-US 1 85495051 85495051 single base substitution C A intron_variant BRCA-US 1 85499890 85499890 single base substitution C A intron_variant BRCA-US 1 85506704 85506704 single base substitution C G intron_variant BRCA-US 1 85506801 85506801 single base substitution T C intron_variant BRCA-US 1 85548084 85548084 single base substitution A C exon_variant BRCA-US 1 85548084 85548084 single base substitution A C missense_variant L116F 348A>C BRCA-US 1 85548084 85548084 single base substitution A C missense_variant L129F 387A>C BRCA-US 1 85560164 85560164 single base substitution C A 3_prime_UTR_variant BRCA-US 1 85560164 85560164 single base substitution C A missense_variant H328N 982C>A BRCA-US 1 85560164 85560164 single base substitution C A missense_variant H367N 1099C>A BRCA-US 1 85564233 85564233 single base substitution G A 3_prime_UTR_variant BRCA-US 1 85564233 85564233 single base substitution G A synonymous_variant P418P 1254G>A BRCA-US 1 85564233 85564233 single base substitution G A synonymous_variant P457P 1371G>A BRCA-US 1 85583497 85583497 single base substitution C A 3_prime_UTR_variant BRCA-US 1 85583497 85583497 single base substitution C A synonymous_variant L585L 1755C>A BRCA-US 1 85583497 85583497 single base substitution C A synonymous_variant L624L 1872C>A BTCA-JP 1 85491769 85491769 single base substitution C G intron_variant BTCA-JP 1 85551734 85551734 single base substitution T G downstream_gene_variant BTCA-JP 1 85551734 85551734 single base substitution T G intron_variant BTCA-JP 1 85559103 85559103 single base substitution C T intron_variant BTCA-JP 1 85573689 85573689 single base substitution T A intron_variant BTCA-JP 1 85575849 85575849 single base substitution A G intron_variant BTCA-JP 1 85583411 85583411 single base substitution G C splice_acceptor_variant BTCA-JP 1 85589994 85589994 single base substitution G A intron_variant BTCA-JP 1 85589994 85589994 single base substitution G A upstream_gene_variant BTCA-JP 1 85592326 85592326 single base substitution A C 3_prime_UTR_variant BTCA-JP 1 85592326 85592326 single base substitution A C missense_variant T31P 91A>C BTCA-JP 1 85592326 85592326 single base substitution A C missense_variant T710P 2128A>C BTCA-JP 1 85592326 85592326 single base substitution A C missense_variant T749P 2245A>C BTCA-JP 1 85594435 85594435 single base substitution C T 3_prime_UTR_variant BTCA-JP 1 85594435 85594435 single base substitution C T missense_variant H70Y 208C>T BTCA-JP 1 85594435 85594435 single base substitution C T missense_variant H749Y 2245C>T BTCA-JP 1 85594435 85594435 single base substitution C T missense_variant H788Y 2362C>T CESC-US 1 85462586 85462586 single base substitution C T upstream_gene_variant CESC-US 1 85510918 85510918 single base substitution G C intron_variant CESC-US 1 85510984 85510984 single base substitution G A intron_variant CESC-US 1 85555822 85555822 single base substitution C T exon_variant CESC-US 1 85555822 85555822 single base substitution C T intron_variant CESC-US 1 85555822 85555822 single base substitution C T missense_variant T255M 764C>T CESC-US 1 85559238 85559238 single base substitution G A exon_variant CESC-US 1 85559238 85559238 single base substitution G A missense_variant D280N 838G>A CESC-US 1 85559238 85559238 single base substitution G A missense_variant D319N 955G>A CESC-US 1 85560159 85560159 single base substitution G C 3_prime_UTR_variant CESC-US 1 85560159 85560159 single base substitution G C missense_variant R326T 977G>C CESC-US 1 85560159 85560159 single base substitution G C missense_variant R365T 1094G>C CLLE-ES 1 85466811 85466811 single base substitution A G intron_variant CLLE-ES 1 85474816 85474816 single base substitution A G intron_variant CLLE-ES 1 85501734 85501734 single base substitution T C intron_variant CLLE-ES 1 85521914 85521914 single base substitution A G intron_variant CLLE-ES 1 85538924 85538924 single base substitution A C intron_variant CLLE-ES 1 85539593 85539593 single base substitution G C intron_variant CLLE-ES 1 85560203 85560203 single base substitution C A 3_prime_UTR_variant CLLE-ES 1 85560203 85560203 single base substitution C A missense_variant L341I 1021C>A CLLE-ES 1 85560203 85560203 single base substitution C A missense_variant L380I 1138C>A CLLE-ES 1 85560842 85560842 single base substitution G A intron_variant CLLE-ES 1 85579840 85579840 single base substitution C T intron_variant CLLE-ES 1 85585038 85585038 single base substitution C T intron_variant CLLE-ES 1 85589183 85589183 single base substitution G A intron_variant CLLE-ES 1 85589183 85589183 single base substitution G A upstream_gene_variant CLLE-ES 1 85592492 85592492 single base substitution G A intron_variant CLLE-ES 1 85593010 85593010 single base substitution C T intron_variant CLLE-ES 1 85596827 85596827 single base substitution C T downstream_gene_variant CLLE-ES 1 85596827 85596827 single base substitution C T intron_variant COAD-US 1 85499838 85499838 single base substitution G A intron_variant COAD-US 1 85506790 85506790 single base substitution T C intron_variant COAD-US 1 85510878 85510878 single base substitution G A intron_variant COAD-US 1 85510906 85510906 insertion of <=200bp - A intron_variant COAD-US 1 85537654 85537654 single base substitution A G exon_variant COAD-US 1 85537654 85537654 single base substitution A G synonymous_variant S10S 30A>G COAD-US 1 85546976 85546976 single base substitution C T exon_variant COAD-US 1 85546976 85546976 single base substitution C T stop_gained R42* 124C>T COAD-US 1 85546976 85546976 single base substitution C T stop_gained R55* 163C>T COAD-US 1 85550323 85550323 single base substitution C A downstream_gene_variant COAD-US 1 85550323 85550323 single base substitution C A exon_variant COAD-US 1 85550323 85550323 single base substitution C A missense_variant S162Y 485C>A COAD-US 1 85551532 85551532 single base substitution C T downstream_gene_variant COAD-US 1 85551532 85551532 single base substitution C T exon_variant COAD-US 1 85551532 85551532 single base substitution C T stop_gained R187* 559C>T COAD-US 1 85559281 85559281 single base substitution G T exon_variant COAD-US 1 85559281 85559281 single base substitution G T missense_variant S294I 881G>T COAD-US 1 85559281 85559281 single base substitution G T missense_variant S333I 998G>T COAD-US 1 85570265 85570265 single base substitution C T 3_prime_UTR_variant COAD-US 1 85570265 85570265 single base substitution C T missense_variant T474I 1421C>T COAD-US 1 85570265 85570265 single base substitution C T missense_variant T513I 1538C>T COAD-US 1 85587440 85587440 single base substitution G A 3_prime_UTR_variant COAD-US 1 85587440 85587440 single base substitution G A missense_variant E603K 1807G>A COAD-US 1 85587440 85587440 single base substitution G A missense_variant E642K 1924G>A COAD-US 1 85587440 85587440 single base substitution G A upstream_gene_variant COAD-US 1 85587468 85587468 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 1 85587468 85587468 deletion of <=200bp A - frameshift_variant E612 COAD-US 1 85587468 85587468 deletion of <=200bp A - frameshift_variant E651 COAD-US 1 85587468 85587468 deletion of <=200bp A - upstream_gene_variant COAD-US 1 85592280 85592280 single base substitution C T 3_prime_UTR_variant COAD-US 1 85592280 85592280 single base substitution C T synonymous_variant I15I 45C>T COAD-US 1 85592280 85592280 single base substitution C T synonymous_variant I694I 2082C>T COAD-US 1 85592280 85592280 single base substitution C T synonymous_variant I733I 2199C>T COAD-US 1 85594466 85594466 single base substitution G A 3_prime_UTR_variant COAD-US 1 85594466 85594466 single base substitution G A missense_variant R759H 2276G>A COAD-US 1 85594466 85594466 single base substitution G A missense_variant R798H 2393G>A COAD-US 1 85594466 85594466 single base substitution G A missense_variant R80H 239G>A COAD-US 1 85598536 85598536 single base substitution A T downstream_gene_variant COAD-US 1 85598536 85598536 single base substitution A T splice_acceptor_variant COCA-CN 1 85462410 85462410 single base substitution G T upstream_gene_variant COCA-CN 1 85506730 85506730 single base substitution C A intron_variant COCA-CN 1 85506739 85506739 single base substitution T C intron_variant COCA-CN 1 85506813 85506813 single base substitution T G intron_variant COCA-CN 1 85510925 85510925 single base substitution C T intron_variant COCA-CN 1 85535859 85535859 single base substitution G A intron_variant COCA-CN 1 85547976 85547976 single base substitution C A splice_region_variant COCA-CN 1 85559132 85559132 single base substitution A G intron_variant COCA-CN 1 85560203 85560203 single base substitution C A 3_prime_UTR_variant COCA-CN 1 85560203 85560203 single base substitution C A missense_variant L341I 1021C>A COCA-CN 1 85560203 85560203 single base substitution C A missense_variant L380I 1138C>A COCA-CN 1 85570185 85570185 single base substitution C A intron_variant COCA-CN 1 85592200 85592200 single base substitution C T 3_prime_UTR_variant COCA-CN 1 85592200 85592200 single base substitution C T missense_variant P668S 2002C>T COCA-CN 1 85592200 85592200 single base substitution C T missense_variant P707S 2119C>T COCA-CN 1 85592200 85592200 single base substitution C T upstream_gene_variant COCA-CN 1 85595745 85595745 single base substitution C T 3_prime_UTR_variant COCA-CN 1 85595745 85595745 single base substitution C T missense_variant R110C 328C>T COCA-CN 1 85595745 85595745 single base substitution C T missense_variant R789C 2365C>T COCA-CN 1 85595745 85595745 single base substitution C T missense_variant R828C 2482C>T COCA-CN 1 85598526 85598526 single base substitution T C downstream_gene_variant COCA-CN 1 85598526 85598526 single base substitution T C intron_variant EOPC-DE 1 85461490 85461490 single base substitution A T upstream_gene_variant EOPC-DE 1 85466101 85466101 single base substitution G A intron_variant EOPC-DE 1 85475441 85475441 single base substitution A T intron_variant EOPC-DE 1 85526211 85526211 single base substitution C T intron_variant EOPC-DE 1 85526211 85526211 single base substitution C T upstream_gene_variant EOPC-DE 1 85552964 85552964 single base substitution C T downstream_gene_variant EOPC-DE 1 85552964 85552964 single base substitution C T intron_variant ESAD-UK 1 85461911 85461911 single base substitution C G upstream_gene_variant ESAD-UK 1 85461976 85461976 single base substitution A C upstream_gene_variant ESAD-UK 1 85462151 85462151 single base substitution T C upstream_gene_variant ESAD-UK 1 85465230 85465230 single base substitution A T intron_variant ESAD-UK 1 85465728 85465728 single base substitution T C intron_variant ESAD-UK 1 85466101 85466101 single base substitution G A intron_variant ESAD-UK 1 85466400 85466400 deletion of <=200bp T - intron_variant ESAD-UK 1 85466768 85466768 single base substitution T C intron_variant ESAD-UK 1 85467780 85467780 single base substitution C T intron_variant ESAD-UK 1 85469148 85469148 single base substitution G T intron_variant ESAD-UK 1 85469225 85469225 single base substitution G A intron_variant ESAD-UK 1 85469611 85469611 single base substitution A T intron_variant ESAD-UK 1 85471079 85471079 single base substitution A C intron_variant ESAD-UK 1 85471505 85471505 single base substitution T C intron_variant ESAD-UK 1 85473478 85473478 single base substitution C T intron_variant ESAD-UK 1 85473717 85473717 single base substitution C T intron_variant ESAD-UK 1 85475084 85475084 single base substitution A G intron_variant ESAD-UK 1 85475868 85475868 single base substitution C G intron_variant ESAD-UK 1 85476320 85476320 single base substitution C A intron_variant ESAD-UK 1 85476480 85476480 single base substitution G T intron_variant ESAD-UK 1 85477015 85477015 single base substitution C T intron_variant ESAD-UK 1 85477132 85477132 single base substitution A C intron_variant ESAD-UK 1 85478306 85478306 single base substitution A G intron_variant ESAD-UK 1 85478820 85478820 single base substitution G A intron_variant ESAD-UK 1 85479327 85479327 deletion of <=200bp T - intron_variant ESAD-UK 1 85479343 85479343 single base substitution T G intron_variant ESAD-UK 1 85482070 85482070 insertion of <=200bp - A intron_variant ESAD-UK 1 85482195 85482195 single base substitution C T intron_variant ESAD-UK 1 85483091 85483091 single base substitution T A intron_variant ESAD-UK 1 85483131 85483131 single base substitution C T intron_variant ESAD-UK 1 85483301 85483301 single base substitution A G intron_variant ESAD-UK 1 85484423 85484423 single base substitution C A intron_variant ESAD-UK 1 85485373 85485373 single base substitution C G intron_variant ESAD-UK 1 85485746 85485746 single base substitution G A intron_variant ESAD-UK 1 85486294 85486294 single base substitution T A intron_variant ESAD-UK 1 85487660 85487660 single base substitution C A intron_variant ESAD-UK 1 85489246 85489246 single base substitution T G intron_variant ESAD-UK 1 85489584 85489584 single base substitution C T intron_variant ESAD-UK 1 85489882 85489882 single base substitution A G intron_variant ESAD-UK 1 85490537 85490537 single base substitution G A intron_variant ESAD-UK 1 85490945 85490945 single base substitution C G intron_variant ESAD-UK 1 85491614 85491614 single base substitution A C intron_variant ESAD-UK 1 85492390 85492390 single base substitution A G intron_variant ESAD-UK 1 85494981 85494981 single base substitution A T intron_variant ESAD-UK 1 85496067 85496067 insertion of <=200bp - A intron_variant ESAD-UK 1 85496879 85496879 single base substitution G A intron_variant ESAD-UK 1 85497409 85497409 insertion of <=200bp - A intron_variant ESAD-UK 1 85500152 85500152 single base substitution T G intron_variant ESAD-UK 1 85503514 85503514 single base substitution T G intron_variant ESAD-UK 1 85503519 85503519 single base substitution G T intron_variant ESAD-UK 1 85504678 85504696 deletion of <=200bp AAAAATAAAAAATAAAATA - intron_variant ESAD-UK 1 85506314 85506314 single base substitution G T intron_variant ESAD-UK 1 85507628 85507629 deletion of <=200bp CT - intron_variant ESAD-UK 1 85510238 85510238 insertion of <=200bp - A intron_variant ESAD-UK 1 85510431 85510431 single base substitution C G intron_variant ESAD-UK 1 85511287 85511287 single base substitution G T intron_variant ESAD-UK 1 85511290 85511290 single base substitution C T intron_variant ESAD-UK 1 85511618 85511618 single base substitution T A intron_variant ESAD-UK 1 85511843 85511843 single base substitution T A intron_variant ESAD-UK 1 85512277 85512277 single base substitution C T intron_variant ESAD-UK 1 85514162 85514162 single base substitution G C intron_variant ESAD-UK 1 85517765 85517765 single base substitution C T intron_variant ESAD-UK 1 85518575 85518575 single base substitution C A intron_variant ESAD-UK 1 85519119 85519119 single base substitution C T intron_variant ESAD-UK 1 85519240 85519240 single base substitution C T intron_variant ESAD-UK 1 85520279 85520279 single base substitution G A intron_variant ESAD-UK 1 85520679 85520679 single base substitution G A intron_variant ESAD-UK 1 85521136 85521136 insertion of <=200bp - A intron_variant ESAD-UK 1 85522067 85522067 single base substitution C A intron_variant ESAD-UK 1 85523443 85523443 single base substitution C T intron_variant ESAD-UK 1 85523443 85523443 single base substitution C T upstream_gene_variant ESAD-UK 1 85524269 85524269 single base substitution T G intron_variant ESAD-UK 1 85524269 85524269 single base substitution T G upstream_gene_variant ESAD-UK 1 85524278 85524278 single base substitution T G intron_variant ESAD-UK 1 85524278 85524278 single base substitution T G upstream_gene_variant ESAD-UK 1 85524283 85524283 single base substitution A T intron_variant ESAD-UK 1 85524283 85524283 single base substitution A T upstream_gene_variant ESAD-UK 1 85527015 85527015 deletion of <=200bp A - intron_variant ESAD-UK 1 85527015 85527015 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 85527922 85527922 single base substitution T G intron_variant ESAD-UK 1 85527922 85527922 single base substitution T G upstream_gene_variant ESAD-UK 1 85529048 85529048 single base substitution G A intron_variant ESAD-UK 1 85531251 85531251 insertion of <=200bp - TG intron_variant ESAD-UK 1 85531793 85531793 single base substitution A T intron_variant ESAD-UK 1 85531820 85531820 single base substitution T C intron_variant ESAD-UK 1 85533546 85533546 single base substitution G T intron_variant ESAD-UK 1 85533963 85533963 single base substitution C T intron_variant ESAD-UK 1 85533973 85533973 single base substitution C T intron_variant ESAD-UK 1 85534082 85534082 single base substitution T G intron_variant ESAD-UK 1 85537302 85537302 single base substitution C T intron_variant ESAD-UK 1 85538873 85538873 single base substitution C A intron_variant ESAD-UK 1 85540383 85540383 single base substitution T G intron_variant ESAD-UK 1 85541518 85541518 single base substitution G T intron_variant ESAD-UK 1 85541616 85541616 single base substitution T G intron_variant ESAD-UK 1 85542015 85542015 single base substitution G T intron_variant ESAD-UK 1 85545377 85545377 single base substitution G T intron_variant ESAD-UK 1 85545411 85545411 single base substitution G A intron_variant ESAD-UK 1 85546003 85546003 single base substitution C T intron_variant ESAD-UK 1 85548854 85548854 single base substitution A C intron_variant ESAD-UK 1 85549393 85549393 single base substitution T G intron_variant ESAD-UK 1 85550157 85550157 insertion of <=200bp - AT intron_variant ESAD-UK 1 85550246 85550246 single base substitution A C exon_variant ESAD-UK 1 85550246 85550246 single base substitution A C missense_variant E123D 369A>C ESAD-UK 1 85550246 85550246 single base substitution A C missense_variant E136D 408A>C ESAD-UK 1 85550493 85550493 single base substitution G T downstream_gene_variant ESAD-UK 1 85550493 85550493 single base substitution G T intron_variant ESAD-UK 1 85552170 85552170 single base substitution C T downstream_gene_variant ESAD-UK 1 85552170 85552170 single base substitution C T intron_variant ESAD-UK 1 85552357 85552357 single base substitution A C downstream_gene_variant ESAD-UK 1 85552357 85552357 single base substitution A C intron_variant ESAD-UK 1 85552785 85552785 single base substitution G A downstream_gene_variant ESAD-UK 1 85552785 85552785 single base substitution G A intron_variant ESAD-UK 1 85556208 85556208 single base substitution C T intron_variant ESAD-UK 1 85557989 85557989 single base substitution C A intron_variant ESAD-UK 1 85559095 85559095 single base substitution A C intron_variant ESAD-UK 1 85559214 85559214 single base substitution G A exon_variant ESAD-UK 1 85559214 85559214 single base substitution G A missense_variant E272K 814G>A ESAD-UK 1 85559214 85559214 single base substitution G A missense_variant E311K 931G>A ESAD-UK 1 85560441 85560441 single base substitution A G intron_variant ESAD-UK 1 85560542 85560542 single base substitution G C intron_variant ESAD-UK 1 85560959 85560959 single base substitution T C intron_variant ESAD-UK 1 85564258 85564258 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 85564258 85564258 single base substitution A G missense_variant I427V 1279A>G ESAD-UK 1 85564258 85564258 single base substitution A G missense_variant I466V 1396A>G ESAD-UK 1 85564833 85564833 single base substitution G T intron_variant ESAD-UK 1 85565794 85565794 single base substitution A C intron_variant ESAD-UK 1 85567052 85567052 single base substitution A C intron_variant ESAD-UK 1 85568052 85568052 single base substitution G T intron_variant ESAD-UK 1 85569348 85569348 single base substitution T C intron_variant ESAD-UK 1 85571098 85571098 single base substitution T A intron_variant ESAD-UK 1 85575162 85575162 single base substitution G C intron_variant ESAD-UK 1 85575411 85575411 single base substitution T A intron_variant ESAD-UK 1 85576162 85576162 insertion of <=200bp - AAATAAAA intron_variant ESAD-UK 1 85577325 85577325 single base substitution A C intron_variant ESAD-UK 1 85579641 85579641 single base substitution T C intron_variant ESAD-UK 1 85582106 85582106 single base substitution G A intron_variant ESAD-UK 1 85582931 85582931 single base substitution A T intron_variant ESAD-UK 1 85583570 85583570 single base substitution T A intron_variant ESAD-UK 1 85584200 85584200 single base substitution C T intron_variant ESAD-UK 1 85584290 85584290 single base substitution G T intron_variant ESAD-UK 1 85585209 85585209 single base substitution G C intron_variant ESAD-UK 1 85585953 85585953 single base substitution C T intron_variant ESAD-UK 1 85586968 85586969 deletion of <=200bp TA - intron_variant ESAD-UK 1 85587109 85587109 single base substitution T C intron_variant ESAD-UK 1 85589766 85589766 single base substitution G A intron_variant ESAD-UK 1 85589766 85589766 single base substitution G A upstream_gene_variant ESAD-UK 1 85592684 85592684 single base substitution G A intron_variant ESAD-UK 1 85594654 85594654 deletion of <=200bp A - intron_variant ESAD-UK 1 85595733 85595733 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 85595733 85595733 single base substitution C T missense_variant R106C 316C>T ESAD-UK 1 85595733 85595733 single base substitution C T missense_variant R785C 2353C>T ESAD-UK 1 85595733 85595733 single base substitution C T missense_variant R824C 2470C>T ESAD-UK 1 85596926 85596926 single base substitution G A downstream_gene_variant ESAD-UK 1 85596926 85596926 single base substitution G A intron_variant ESAD-UK 1 85599496 85599496 single base substitution T G downstream_gene_variant ESAD-UK 1 85602157 85602157 single base substitution G A downstream_gene_variant ESAD-UK 1 85602296 85602296 single base substitution G T downstream_gene_variant ESAD-UK 1 85603204 85603204 single base substitution G A downstream_gene_variant ESCA-CN 1 85564138 85564138 single base substitution A G intron_variant GBM-US 1 85491656 85491656 single base substitution A G intron_variant GBM-US 1 85498465 85498465 single base substitution C T intron_variant GBM-US 1 85499910 85499910 single base substitution C T intron_variant GBM-US 1 85551548 85551548 single base substitution T A downstream_gene_variant GBM-US 1 85551548 85551548 single base substitution T A exon_variant GBM-US 1 85551548 85551548 single base substitution T A missense_variant F192Y 575T>A GBM-US 1 85559260 85559260 single base substitution A T exon_variant GBM-US 1 85559260 85559260 single base substitution A T missense_variant Q287L 860A>T GBM-US 1 85559260 85559260 single base substitution A T missense_variant Q326L 977A>T GBM-US 1 85560129 85560129 single base substitution C T 3_prime_UTR_variant GBM-US 1 85560129 85560129 single base substitution C T missense_variant S316L 947C>T GBM-US 1 85560129 85560129 single base substitution C T missense_variant S355L 1064C>T GBM-US 1 85564213 85564213 single base substitution C G missense_variant P412A 1234C>G GBM-US 1 85564213 85564213 single base substitution C G missense_variant P451A 1351C>G GBM-US 1 85564213 85564213 single base substitution C G splice_region_variant GBM-US 1 85592202 85592202 single base substitution G A 3_prime_UTR_variant GBM-US 1 85592202 85592202 single base substitution G A synonymous_variant P668P 2004G>A GBM-US 1 85592202 85592202 single base substitution G A synonymous_variant P707P 2121G>A GBM-US 1 85592202 85592202 single base substitution G A upstream_gene_variant GBM-US 1 85595746 85595746 single base substitution G A 3_prime_UTR_variant GBM-US 1 85595746 85595746 single base substitution G A missense_variant R110H 329G>A GBM-US 1 85595746 85595746 single base substitution G A missense_variant R789H 2366G>A GBM-US 1 85595746 85595746 single base substitution G A missense_variant R828H 2483G>A KIRC-US 1 85486913 85486913 deletion of <=200bp T - intron_variant KIRC-US 1 85487844 85487844 single base substitution G T intron_variant KIRC-US 1 85491737 85491737 single base substitution T C intron_variant KIRC-US 1 85494842 85494842 single base substitution A T intron_variant KIRC-US 1 85511028 85511028 single base substitution C A intron_variant KIRC-US 1 85546974 85546974 single base substitution G A exon_variant KIRC-US 1 85546974 85546974 single base substitution G A missense_variant C41Y 122G>A KIRC-US 1 85546974 85546974 single base substitution G A missense_variant C54Y 161G>A KIRC-US 1 85564293 85564293 single base substitution A G 3_prime_UTR_variant KIRC-US 1 85564293 85564293 single base substitution A G synonymous_variant G438G 1314A>G KIRC-US 1 85564293 85564293 single base substitution A G synonymous_variant G477G 1431A>G KIRP-US 1 85487988 85487988 single base substitution C A intron_variant KIRP-US 1 85491700 85491700 single base substitution A G intron_variant KIRP-US 1 85491894 85491894 single base substitution G C intron_variant KIRP-US 1 85506767 85506767 single base substitution C G intron_variant LAML-CN 1 85592201 85592201 single base substitution C T 3_prime_UTR_variant LAML-CN 1 85592201 85592201 single base substitution C T missense_variant P668L 2003C>T LAML-CN 1 85592201 85592201 single base substitution C T missense_variant P707L 2120C>T LAML-CN 1 85592201 85592201 single base substitution C T upstream_gene_variant LAML-KR 1 85468208 85468208 single base substitution G A intron_variant LAML-KR 1 85563177 85563177 single base substitution C A intron_variant LAML-KR 1 85593831 85593831 single base substitution A G intron_variant LGG-US 1 85546977 85546977 single base substitution G T exon_variant LGG-US 1 85546977 85546977 single base substitution G T missense_variant R42L 125G>T LGG-US 1 85546977 85546977 single base substitution G T missense_variant R55L 164G>T LGG-US 1 85551533 85551533 single base substitution G A downstream_gene_variant LGG-US 1 85551533 85551533 single base substitution G A exon_variant LGG-US 1 85551533 85551533 single base substitution G A missense_variant R187Q 560G>A LICA-CN 1 85488050 85488050 single base substitution G C intron_variant LICA-CN 1 85498375 85498375 single base substitution T A intron_variant LICA-CN 1 85510812 85510812 single base substitution T A intron_variant LICA-FR 1 85466330 85466332 deletion of <=200bp TGC - intron_variant LICA-FR 1 85485012 85485012 single base substitution G T intron_variant LICA-FR 1 85488179 85488179 single base substitution G A intron_variant LICA-FR 1 85494789 85494789 single base substitution T G intron_variant LICA-FR 1 85498066 85498066 single base substitution G C intron_variant LICA-FR 1 85507806 85507806 single base substitution T A intron_variant LICA-FR 1 85519249 85519249 single base substitution C A intron_variant LICA-FR 1 85534159 85534159 single base substitution C G intron_variant LICA-FR 1 85547614 85547614 single base substitution G A intron_variant LICA-FR 1 85549110 85549110 single base substitution C A intron_variant LICA-FR 1 85558478 85558478 insertion of <=200bp - ACACACAC intron_variant LICA-FR 1 85560124 85560124 single base substitution T A 3_prime_UTR_variant LICA-FR 1 85560124 85560124 single base substitution T A synonymous_variant A314A 942T>A LICA-FR 1 85560124 85560124 single base substitution T A synonymous_variant A353A 1059T>A LICA-FR 1 85565174 85565174 single base substitution G A intron_variant LICA-FR 1 85575736 85575736 single base substitution G A 3_prime_UTR_variant LICA-FR 1 85575736 85575736 single base substitution G A synonymous_variant R529R 1587G>A LICA-FR 1 85575736 85575736 single base substitution G A synonymous_variant R568R 1704G>A LICA-FR 1 85581919 85581919 single base substitution C T intron_variant LICA-FR 1 85585234 85585234 single base substitution T A intron_variant LICA-FR 1 85585333 85585333 single base substitution C G intron_variant LICA-FR 1 85588919 85588919 single base substitution T C intron_variant LICA-FR 1 85588919 85588919 single base substitution T C upstream_gene_variant LICA-FR 1 85603020 85603020 single base substitution C G downstream_gene_variant LIHC-US 1 85561679 85561679 single base substitution T A 3_prime_UTR_variant LIHC-US 1 85561679 85561679 single base substitution T A synonymous_variant I374I 1122T>A LIHC-US 1 85561679 85561679 single base substitution T A synonymous_variant I413I 1239T>A LINC-JP 1 85474653 85474653 single base substitution C T intron_variant LINC-JP 1 85478455 85478455 single base substitution C T intron_variant LINC-JP 1 85480775 85480775 single base substitution G T intron_variant LINC-JP 1 85483442 85483442 single base substitution G A intron_variant LINC-JP 1 85483642 85483656 deletion of <=200bp CCACAGCCTCTCACC - intron_variant LINC-JP 1 85485126 85485126 single base substitution C A intron_variant LINC-JP 1 85485987 85485987 single base substitution C T intron_variant LINC-JP 1 85486316 85486316 single base substitution A G intron_variant LINC-JP 1 85505647 85505647 single base substitution T A intron_variant LINC-JP 1 85505650 85505650 single base substitution A T intron_variant LINC-JP 1 85510652 85510652 single base substitution C A intron_variant LINC-JP 1 85513430 85513430 deletion of <=200bp T - intron_variant LINC-JP 1 85521435 85521435 single base substitution A G intron_variant LINC-JP 1 85526947 85526947 single base substitution T A intron_variant LINC-JP 1 85526947 85526947 single base substitution T A upstream_gene_variant LINC-JP 1 85531678 85531678 single base substitution C G intron_variant LINC-JP 1 85532979 85532979 single base substitution T C intron_variant LINC-JP 1 85550257 85550257 single base substitution A T downstream_gene_variant LINC-JP 1 85550257 85550257 single base substitution A T exon_variant LINC-JP 1 85550257 85550257 single base substitution A T missense_variant E140V 419A>T LINC-JP 1 85558222 85558222 single base substitution A G intron_variant LINC-JP 1 85566942 85566942 single base substitution C A intron_variant LINC-JP 1 85570351 85570351 single base substitution C T intron_variant LINC-JP 1 85583365 85583365 single base substitution T C intron_variant LINC-JP 1 85583707 85583707 single base substitution A G intron_variant LINC-JP 1 85595136 85595164 deletion of <=200bp ATTCTATGCCTACACTCGAAGCCCTCCAG - intron_variant LINC-JP 1 85597583 85597583 single base substitution T C downstream_gene_variant LINC-JP 1 85597583 85597583 single base substitution T C intron_variant LINC-JP 1 85599514 85599514 single base substitution T C downstream_gene_variant LIRI-JP 1 85459881 85459881 single base substitution G T upstream_gene_variant LIRI-JP 1 85461838 85461838 single base substitution C A upstream_gene_variant LIRI-JP 1 85462061 85462061 single base substitution C T upstream_gene_variant LIRI-JP 1 85464224 85464224 single base substitution G A upstream_gene_variant LIRI-JP 1 85465395 85465395 single base substitution A C intron_variant LIRI-JP 1 85466554 85466554 single base substitution T C intron_variant LIRI-JP 1 85467034 85467034 single base substitution G A intron_variant LIRI-JP 1 85467631 85467631 single base substitution C A intron_variant LIRI-JP 1 85470360 85470360 single base substitution T C intron_variant LIRI-JP 1 85471189 85471189 single base substitution T C intron_variant LIRI-JP 1 85472472 85472472 single base substitution A T intron_variant LIRI-JP 1 85472510 85472510 single base substitution C G intron_variant LIRI-JP 1 85476044 85476044 single base substitution A G intron_variant LIRI-JP 1 85476731 85476731 single base substitution A G intron_variant LIRI-JP 1 85478250 85478250 single base substitution G A intron_variant LIRI-JP 1 85478551 85478551 single base substitution G A intron_variant LIRI-JP 1 85479589 85479589 single base substitution T C intron_variant LIRI-JP 1 85479785 85479785 single base substitution T C intron_variant LIRI-JP 1 85480719 85480719 single base substitution T C intron_variant LIRI-JP 1 85481452 85481452 single base substitution A T intron_variant LIRI-JP 1 85482317 85482317 deletion of <=200bp G - intron_variant LIRI-JP 1 85483454 85483454 single base substitution G A intron_variant LIRI-JP 1 85486328 85486328 single base substitution T C intron_variant LIRI-JP 1 85486809 85486809 single base substitution A G intron_variant LIRI-JP 1 85487481 85487481 single base substitution G T intron_variant LIRI-JP 1 85489166 85489166 single base substitution T A intron_variant LIRI-JP 1 85489276 85489276 single base substitution A G intron_variant LIRI-JP 1 85489441 85489441 single base substitution G A intron_variant LIRI-JP 1 85490673 85490673 single base substitution C T intron_variant LIRI-JP 1 85492102 85492102 single base substitution C A intron_variant LIRI-JP 1 85493963 85493963 single base substitution T C intron_variant LIRI-JP 1 85495921 85495921 single base substitution T C intron_variant LIRI-JP 1 85497490 85497490 single base substitution T C intron_variant LIRI-JP 1 85498424 85498424 single base substitution T A intron_variant LIRI-JP 1 85498849 85498849 single base substitution G C intron_variant LIRI-JP 1 85499095 85499095 single base substitution A G intron_variant LIRI-JP 1 85500121 85500121 single base substitution T C intron_variant LIRI-JP 1 85501230 85501230 single base substitution G A intron_variant LIRI-JP 1 85504252 85504252 deletion of <=200bp G - intron_variant LIRI-JP 1 85510441 85510441 single base substitution A C intron_variant LIRI-JP 1 85510647 85510647 single base substitution T C intron_variant LIRI-JP 1 85511341 85511341 single base substitution T C intron_variant LIRI-JP 1 85513398 85513398 single base substitution C T intron_variant LIRI-JP 1 85515410 85515410 single base substitution C T intron_variant LIRI-JP 1 85516681 85516681 single base substitution A G intron_variant LIRI-JP 1 85517233 85517233 single base substitution C T intron_variant LIRI-JP 1 85518469 85518469 single base substitution A T intron_variant LIRI-JP 1 85519669 85519669 single base substitution G A intron_variant LIRI-JP 1 85521666 85521666 single base substitution T C intron_variant LIRI-JP 1 85522619 85522619 single base substitution G T intron_variant LIRI-JP 1 85522815 85522815 single base substitution G A intron_variant LIRI-JP 1 85523445 85523445 single base substitution T G intron_variant LIRI-JP 1 85523445 85523445 single base substitution T G upstream_gene_variant LIRI-JP 1 85523451 85523451 single base substitution T C intron_variant LIRI-JP 1 85523451 85523451 single base substitution T C upstream_gene_variant LIRI-JP 1 85523505 85523505 single base substitution T A intron_variant LIRI-JP 1 85523505 85523505 single base substitution T A upstream_gene_variant LIRI-JP 1 85525826 85525826 single base substitution G A intron_variant LIRI-JP 1 85525826 85525826 single base substitution G A upstream_gene_variant LIRI-JP 1 85526111 85526111 single base substitution T C intron_variant LIRI-JP 1 85526111 85526111 single base substitution T C upstream_gene_variant LIRI-JP 1 85527576 85527576 single base substitution C T intron_variant LIRI-JP 1 85527576 85527576 single base substitution C T upstream_gene_variant LIRI-JP 1 85527762 85527762 deletion of <=200bp G - intron_variant LIRI-JP 1 85527762 85527762 deletion of <=200bp G - upstream_gene_variant LIRI-JP 1 85528710 85528710 single base substitution G C intron_variant LIRI-JP 1 85529803 85529803 single base substitution A G intron_variant LIRI-JP 1 85530331 85530331 single base substitution C T intron_variant LIRI-JP 1 85531489 85531489 single base substitution A T intron_variant LIRI-JP 1 85532295 85532295 single base substitution G A intron_variant LIRI-JP 1 85534492 85534492 single base substitution A G intron_variant LIRI-JP 1 85534727 85534727 single base substitution T C intron_variant LIRI-JP 1 85534948 85534948 single base substitution C A intron_variant LIRI-JP 1 85535156 85535156 single base substitution C A intron_variant LIRI-JP 1 85541549 85541549 single base substitution C T intron_variant LIRI-JP 1 85541964 85541964 single base substitution C T intron_variant LIRI-JP 1 85544554 85544554 single base substitution T C intron_variant LIRI-JP 1 85545549 85545549 single base substitution A T intron_variant LIRI-JP 1 85546100 85546100 single base substitution G T intron_variant LIRI-JP 1 85546224 85546224 single base substitution T C intron_variant LIRI-JP 1 85547621 85547621 single base substitution G A intron_variant LIRI-JP 1 85548043 85548043 single base substitution T C exon_variant LIRI-JP 1 85548043 85548043 single base substitution T C missense_variant F103L 307T>C LIRI-JP 1 85548043 85548043 single base substitution T C missense_variant F116L 346T>C LIRI-JP 1 85548126 85548126 insertion of <=200bp - GTTGTG intron_variant LIRI-JP 1 85548786 85548786 single base substitution A G intron_variant LIRI-JP 1 85550558 85550558 single base substitution T C downstream_gene_variant LIRI-JP 1 85550558 85550558 single base substitution T C intron_variant LIRI-JP 1 85551850 85551850 single base substitution T C downstream_gene_variant LIRI-JP 1 85551850 85551850 single base substitution T C intron_variant LIRI-JP 1 85554019 85554019 single base substitution C A downstream_gene_variant LIRI-JP 1 85554019 85554019 single base substitution C A intron_variant LIRI-JP 1 85554099 85554099 single base substitution T G downstream_gene_variant LIRI-JP 1 85554099 85554099 single base substitution T G intron_variant LIRI-JP 1 85554991 85554991 single base substitution A T downstream_gene_variant LIRI-JP 1 85554991 85554991 single base substitution A T intron_variant LIRI-JP 1 85555874 85555874 single base substitution A G exon_variant LIRI-JP 1 85555874 85555874 single base substitution A G intron_variant LIRI-JP 1 85555874 85555874 single base substitution A G synonymous_variant Q272Q 816A>G LIRI-JP 1 85556322 85556322 single base substitution T C intron_variant LIRI-JP 1 85559475 85559475 single base substitution C T exon_variant LIRI-JP 1 85559475 85559475 single base substitution C T intron_variant LIRI-JP 1 85560045 85560045 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 85560045 85560045 single base substitution G T intron_variant LIRI-JP 1 85563736 85563736 single base substitution T C intron_variant LIRI-JP 1 85564498 85564498 single base substitution T C intron_variant LIRI-JP 1 85568277 85568277 single base substitution T C intron_variant LIRI-JP 1 85568865 85568865 single base substitution C T intron_variant LIRI-JP 1 85571159 85571159 single base substitution C T intron_variant LIRI-JP 1 85571339 85571339 single base substitution A G intron_variant LIRI-JP 1 85573067 85573067 single base substitution A G intron_variant LIRI-JP 1 85574714 85574714 single base substitution G T intron_variant LIRI-JP 1 85575078 85575078 single base substitution A G intron_variant LIRI-JP 1 85575266 85575266 single base substitution A T intron_variant LIRI-JP 1 85577595 85577595 single base substitution C G intron_variant LIRI-JP 1 85578302 85578302 single base substitution T C intron_variant LIRI-JP 1 85579086 85579086 single base substitution G T intron_variant LIRI-JP 1 85581102 85581102 single base substitution G A intron_variant LIRI-JP 1 85581249 85581249 single base substitution C T intron_variant LIRI-JP 1 85581465 85581465 single base substitution A G intron_variant LIRI-JP 1 85583021 85583021 single base substitution G A intron_variant LIRI-JP 1 85583981 85583981 single base substitution T C intron_variant LIRI-JP 1 85588927 85588927 single base substitution T C intron_variant LIRI-JP 1 85588927 85588927 single base substitution T C upstream_gene_variant LIRI-JP 1 85590429 85590429 single base substitution C T intron_variant LIRI-JP 1 85590429 85590429 single base substitution C T upstream_gene_variant LIRI-JP 1 85591051 85591051 single base substitution T C intron_variant LIRI-JP 1 85591051 85591051 single base substitution T C upstream_gene_variant LIRI-JP 1 85593030 85593030 single base substitution T A intron_variant LIRI-JP 1 85593075 85593075 single base substitution C T intron_variant LIRI-JP 1 85593234 85593234 single base substitution G T intron_variant LIRI-JP 1 85594597 85594597 single base substitution C T intron_variant LIRI-JP 1 85596567 85596576 deletion of <=200bp TTCTCCCTGT - downstream_gene_variant LIRI-JP 1 85596567 85596576 deletion of <=200bp TTCTCCCTGT - intron_variant LIRI-JP 1 85597277 85597277 single base substitution A C downstream_gene_variant LIRI-JP 1 85597277 85597277 single base substitution A C intron_variant LIRI-JP 1 85599004 85599004 single base substitution C T downstream_gene_variant LIRI-JP 1 85599067 85599067 single base substitution T C downstream_gene_variant LIRI-JP 1 85599239 85599239 single base substitution G A downstream_gene_variant LIRI-JP 1 85603262 85603262 single base substitution T A downstream_gene_variant LIRI-JP 1 85603382 85603382 single base substitution A T downstream_gene_variant LUSC-KR 1 85466573 85466573 single base substitution T C intron_variant LUSC-KR 1 85468651 85468651 single base substitution G A intron_variant LUSC-KR 1 85471833 85471833 single base substitution C T intron_variant LUSC-KR 1 85476590 85476590 single base substitution C G intron_variant LUSC-KR 1 85480153 85480153 single base substitution T A intron_variant LUSC-KR 1 85482102 85482102 single base substitution T G intron_variant LUSC-KR 1 85483364 85483364 single base substitution T C intron_variant LUSC-KR 1 85483451 85483451 single base substitution C T intron_variant LUSC-KR 1 85484276 85484276 single base substitution C T intron_variant LUSC-KR 1 85484473 85484473 single base substitution C T intron_variant LUSC-KR 1 85485042 85485042 single base substitution G C intron_variant LUSC-KR 1 85485689 85485689 single base substitution T A intron_variant LUSC-KR 1 85499483 85499483 single base substitution C A intron_variant LUSC-KR 1 85501316 85501316 single base substitution G C intron_variant LUSC-KR 1 85502251 85502251 single base substitution C G intron_variant LUSC-KR 1 85510235 85510235 single base substitution C T intron_variant LUSC-KR 1 85518341 85518341 single base substitution G T intron_variant LUSC-KR 1 85523729 85523729 single base substitution T C intron_variant LUSC-KR 1 85523729 85523729 single base substitution T C upstream_gene_variant LUSC-KR 1 85526203 85526203 single base substitution T C intron_variant LUSC-KR 1 85526203 85526203 single base substitution T C upstream_gene_variant LUSC-KR 1 85526447 85526447 single base substitution A G intron_variant LUSC-KR 1 85526447 85526447 single base substitution A G upstream_gene_variant LUSC-KR 1 85537502 85537502 single base substitution T A intron_variant LUSC-KR 1 85537522 85537522 single base substitution T C intron_variant LUSC-KR 1 85538632 85538632 single base substitution C T intron_variant LUSC-KR 1 85538655 85538655 single base substitution A G intron_variant LUSC-KR 1 85539011 85539011 single base substitution G A intron_variant LUSC-KR 1 85551423 85551423 single base substitution A G downstream_gene_variant LUSC-KR 1 85551423 85551423 single base substitution A G intron_variant LUSC-KR 1 85552964 85552964 single base substitution C G downstream_gene_variant LUSC-KR 1 85552964 85552964 single base substitution C G intron_variant LUSC-KR 1 85553737 85553737 single base substitution G A downstream_gene_variant LUSC-KR 1 85553737 85553737 single base substitution G A intron_variant LUSC-KR 1 85570060 85570060 single base substitution T A intron_variant LUSC-KR 1 85586032 85586032 single base substitution C T intron_variant LUSC-KR 1 85586549 85586549 single base substitution G C intron_variant LUSC-KR 1 85587518 85587518 single base substitution G A intron_variant LUSC-KR 1 85587518 85587518 single base substitution G A upstream_gene_variant LUSC-KR 1 85593831 85593831 single base substitution A G intron_variant LUSC-KR 1 85594466 85594466 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 85594466 85594466 single base substitution G A missense_variant R759H 2276G>A LUSC-KR 1 85594466 85594466 single base substitution G A missense_variant R798H 2393G>A LUSC-KR 1 85594466 85594466 single base substitution G A missense_variant R80H 239G>A LUSC-KR 1 85601077 85601077 single base substitution C G downstream_gene_variant LUSC-US 1 85484903 85484903 single base substitution C A intron_variant LUSC-US 1 85486820 85486820 single base substitution C T intron_variant LUSC-US 1 85486931 85486931 single base substitution C A intron_variant LUSC-US 1 85486956 85486956 single base substitution G A intron_variant LUSC-US 1 85487781 85487781 single base substitution C A intron_variant LUSC-US 1 85488037 85488037 single base substitution G T intron_variant LUSC-US 1 85499857 85499857 single base substitution G C intron_variant LUSC-US 1 85510898 85510898 single base substitution G T intron_variant LUSC-US 1 85559204 85559204 single base substitution C A exon_variant LUSC-US 1 85559204 85559204 single base substitution C A synonymous_variant L268L 804C>A LUSC-US 1 85559204 85559204 single base substitution C A synonymous_variant L307L 921C>A LUSC-US 1 85564330 85564330 single base substitution G A 3_prime_UTR_variant LUSC-US 1 85564330 85564330 single base substitution G A missense_variant D451N 1351G>A LUSC-US 1 85564330 85564330 single base substitution G A missense_variant D490N 1468G>A LUSC-US 1 85573813 85573813 single base substitution C G 3_prime_UTR_variant LUSC-US 1 85573813 85573813 single base substitution C G missense_variant P512A 1534C>G LUSC-US 1 85573813 85573813 single base substitution C G missense_variant P551A 1651C>G LUSC-US 1 85592285 85592285 single base substitution G T 3_prime_UTR_variant LUSC-US 1 85592285 85592285 single base substitution G T missense_variant R17L 50G>T LUSC-US 1 85592285 85592285 single base substitution G T missense_variant R696L 2087G>T LUSC-US 1 85592285 85592285 single base substitution G T missense_variant R735L 2204G>T MALY-DE 1 85462612 85462612 single base substitution C T upstream_gene_variant MALY-DE 1 85465732 85465732 single base substitution G A intron_variant MALY-DE 1 85480557 85480557 single base substitution T G intron_variant MALY-DE 1 85481850 85481857 deletion of <=200bp AGAAAGAA - intron_variant MALY-DE 1 85490118 85490118 single base substitution G A intron_variant MALY-DE 1 85491627 85491627 single base substitution C T intron_variant MALY-DE 1 85503347 85503347 single base substitution G T intron_variant MALY-DE 1 85503423 85503423 single base substitution G A intron_variant MALY-DE 1 85507628 85507629 deletion of <=200bp CT - intron_variant MALY-DE 1 85517916 85517916 single base substitution G A intron_variant MALY-DE 1 85533232 85533232 single base substitution C T intron_variant MALY-DE 1 85536256 85536256 single base substitution A G intron_variant MALY-DE 1 85545620 85545620 single base substitution A G intron_variant MALY-DE 1 85548424 85548424 single base substitution A G intron_variant MALY-DE 1 85555541 85555541 single base substitution T G intron_variant MALY-DE 1 85561005 85561005 single base substitution A C intron_variant MALY-DE 1 85576614 85576614 single base substitution A C intron_variant MALY-DE 1 85579048 85579048 single base substitution T G intron_variant MALY-DE 1 85579915 85579915 single base substitution C T intron_variant MALY-DE 1 85585514 85585514 single base substitution G A intron_variant MALY-DE 1 85589648 85589648 single base substitution C A intron_variant MALY-DE 1 85589648 85589648 single base substitution C A upstream_gene_variant MELA-AU 1 85459930 85459930 single base substitution G A upstream_gene_variant MELA-AU 1 85460241 85460241 single base substitution C T upstream_gene_variant MELA-AU 1 85460687 85460687 single base substitution G A upstream_gene_variant MELA-AU 1 85461834 85461834 single base substitution A G upstream_gene_variant MELA-AU 1 85462136 85462136 single base substitution G A upstream_gene_variant MELA-AU 1 85462686 85462686 single base substitution C T upstream_gene_variant MELA-AU 1 85463361 85463361 single base substitution G C upstream_gene_variant MELA-AU 1 85463439 85463439 single base substitution C T upstream_gene_variant MELA-AU 1 85464384 85464384 single base substitution G A upstream_gene_variant MELA-AU 1 85465349 85465349 single base substitution A T intron_variant MELA-AU 1 85465353 85465353 single base substitution T C intron_variant MELA-AU 1 85465485 85465485 single base substitution C T intron_variant MELA-AU 1 85465694 85465694 single base substitution G T intron_variant MELA-AU 1 85466233 85466233 single base substitution C T intron_variant MELA-AU 1 85466777 85466777 single base substitution G A intron_variant MELA-AU 1 85466852 85466852 single base substitution C T intron_variant MELA-AU 1 85466993 85466993 single base substitution T G intron_variant MELA-AU 1 85467943 85467943 single base substitution T C intron_variant MELA-AU 1 85468148 85468149 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 85469271 85469271 single base substitution G A intron_variant MELA-AU 1 85469398 85469398 single base substitution C T intron_variant MELA-AU 1 85469678 85469678 single base substitution G A intron_variant MELA-AU 1 85470065 85470065 single base substitution A G intron_variant MELA-AU 1 85470098 85470098 single base substitution C T intron_variant MELA-AU 1 85470615 85470615 single base substitution C T intron_variant MELA-AU 1 85470643 85470643 single base substitution G A intron_variant MELA-AU 1 85470912 85470912 single base substitution C T intron_variant MELA-AU 1 85471128 85471128 single base substitution C T intron_variant MELA-AU 1 85471691 85471691 single base substitution A C intron_variant MELA-AU 1 85471789 85471789 single base substitution G A intron_variant MELA-AU 1 85471803 85471803 single base substitution C T intron_variant MELA-AU 1 85471981 85471981 single base substitution G A intron_variant MELA-AU 1 85472385 85472385 single base substitution T G intron_variant MELA-AU 1 85472764 85472764 single base substitution C T intron_variant MELA-AU 1 85473043 85473043 single base substitution C T intron_variant MELA-AU 1 85473110 85473110 single base substitution T C intron_variant MELA-AU 1 85473199 85473199 single base substitution C T intron_variant MELA-AU 1 85473699 85473699 single base substitution C T intron_variant MELA-AU 1 85473835 85473835 single base substitution G A intron_variant MELA-AU 1 85473851 85473852 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 85473883 85473883 single base substitution G A intron_variant MELA-AU 1 85474022 85474022 single base substitution C T intron_variant MELA-AU 1 85474034 85474034 single base substitution G A intron_variant MELA-AU 1 85474162 85474162 single base substitution C T intron_variant MELA-AU 1 85474163 85474163 single base substitution C T intron_variant MELA-AU 1 85474405 85474405 single base substitution C T intron_variant MELA-AU 1 85474488 85474488 single base substitution C T intron_variant MELA-AU 1 85474567 85474567 single base substitution C T intron_variant MELA-AU 1 85474829 85474829 single base substitution G A intron_variant MELA-AU 1 85474864 85474864 single base substitution G A intron_variant MELA-AU 1 85474966 85474966 single base substitution A G intron_variant MELA-AU 1 85475042 85475042 single base substitution G A intron_variant MELA-AU 1 85475107 85475109 multiple base substitution (>=2bp and <=200bp) CCC TTT intron_variant MELA-AU 1 85475109 85475109 single base substitution C T intron_variant MELA-AU 1 85475333 85475333 single base substitution T C intron_variant MELA-AU 1 85475370 85475370 single base substitution A G intron_variant MELA-AU 1 85475691 85475691 single base substitution C T intron_variant MELA-AU 1 85476582 85476582 single base substitution C T intron_variant MELA-AU 1 85476647 85476647 single base substitution G A intron_variant MELA-AU 1 85477167 85477167 single base substitution C T intron_variant MELA-AU 1 85477853 85477853 single base substitution C T intron_variant MELA-AU 1 85478347 85478347 single base substitution T A intron_variant MELA-AU 1 85478938 85478938 single base substitution C T intron_variant MELA-AU 1 85479197 85479197 single base substitution G A intron_variant MELA-AU 1 85479247 85479247 single base substitution G A intron_variant MELA-AU 1 85479569 85479569 single base substitution C T intron_variant MELA-AU 1 85480034 85480034 single base substitution C T intron_variant MELA-AU 1 85480499 85480499 single base substitution G A intron_variant MELA-AU 1 85481358 85481359 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 1 85482045 85482045 single base substitution G A intron_variant MELA-AU 1 85485028 85485028 single base substitution G A intron_variant MELA-AU 1 85485174 85485174 single base substitution A G intron_variant MELA-AU 1 85485569 85485569 single base substitution G A intron_variant MELA-AU 1 85485605 85485605 single base substitution G A intron_variant MELA-AU 1 85488185 85488185 single base substitution G A intron_variant MELA-AU 1 85488274 85488274 single base substitution G A intron_variant MELA-AU 1 85488328 85488328 single base substitution G A intron_variant MELA-AU 1 85489248 85489248 single base substitution C T intron_variant MELA-AU 1 85489615 85489615 single base substitution G A intron_variant MELA-AU 1 85489705 85489706 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 85489979 85489979 single base substitution A T intron_variant MELA-AU 1 85490002 85490002 single base substitution G A intron_variant MELA-AU 1 85490024 85490024 single base substitution G A intron_variant MELA-AU 1 85490281 85490281 single base substitution G A intron_variant MELA-AU 1 85490916 85490916 single base substitution T A intron_variant MELA-AU 1 85491069 85491069 single base substitution G A intron_variant MELA-AU 1 85491145 85491145 single base substitution G A intron_variant MELA-AU 1 85491174 85491174 single base substitution G A intron_variant MELA-AU 1 85491877 85491877 single base substitution A T intron_variant MELA-AU 1 85491935 85491935 single base substitution C T intron_variant MELA-AU 1 85492244 85492244 single base substitution C T intron_variant MELA-AU 1 85492371 85492371 single base substitution T C intron_variant MELA-AU 1 85492416 85492416 single base substitution G A intron_variant MELA-AU 1 85492848 85492848 single base substitution G C intron_variant MELA-AU 1 85493184 85493185 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 85493267 85493267 single base substitution G C intron_variant MELA-AU 1 85493315 85493315 single base substitution G A intron_variant MELA-AU 1 85493449 85493449 single base substitution G A intron_variant MELA-AU 1 85493487 85493487 single base substitution G A intron_variant MELA-AU 1 85493610 85493610 single base substitution G A intron_variant MELA-AU 1 85494319 85494319 single base substitution G A intron_variant MELA-AU 1 85494355 85494355 single base substitution G A intron_variant MELA-AU 1 85494479 85494479 single base substitution A G intron_variant MELA-AU 1 85494569 85494569 single base substitution G A intron_variant MELA-AU 1 85494948 85494948 single base substitution A T intron_variant MELA-AU 1 85495182 85495182 single base substitution C T intron_variant MELA-AU 1 85496633 85496633 single base substitution G A intron_variant MELA-AU 1 85496793 85496793 single base substitution A G intron_variant MELA-AU 1 85496873 85496873 single base substitution G A intron_variant MELA-AU 1 85497320 85497321 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 1 85497333 85497333 single base substitution G A intron_variant MELA-AU 1 85498012 85498012 single base substitution G C intron_variant MELA-AU 1 85498130 85498130 single base substitution G A intron_variant MELA-AU 1 85498308 85498308 single base substitution G A intron_variant MELA-AU 1 85498857 85498857 single base substitution G A intron_variant MELA-AU 1 85499108 85499108 single base substitution A C intron_variant MELA-AU 1 85499397 85499397 single base substitution T C intron_variant MELA-AU 1 85499870 85499870 single base substitution G A intron_variant MELA-AU 1 85499962 85499962 single base substitution G A intron_variant MELA-AU 1 85500468 85500482 deletion of <=200bp AAAAATTACTTTTAC - intron_variant MELA-AU 1 85500813 85500813 deletion of <=200bp G - intron_variant MELA-AU 1 85500847 85500847 single base substitution G A intron_variant MELA-AU 1 85502563 85502563 single base substitution G A intron_variant MELA-AU 1 85502746 85502746 single base substitution G A intron_variant MELA-AU 1 85502938 85502938 single base substitution A G intron_variant MELA-AU 1 85503065 85503066 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 85503590 85503590 single base substitution G A intron_variant MELA-AU 1 85503816 85503816 single base substitution G A intron_variant MELA-AU 1 85504034 85504034 single base substitution A G intron_variant MELA-AU 1 85504102 85504102 single base substitution G A intron_variant MELA-AU 1 85504234 85504234 single base substitution G A intron_variant MELA-AU 1 85505033 85505033 single base substitution A T intron_variant MELA-AU 1 85506078 85506078 single base substitution C T intron_variant MELA-AU 1 85507437 85507437 single base substitution C G intron_variant MELA-AU 1 85507675 85507675 single base substitution C A intron_variant MELA-AU 1 85507978 85507978 single base substitution C A intron_variant MELA-AU 1 85508754 85508754 single base substitution G T intron_variant MELA-AU 1 85509449 85509449 single base substitution T C intron_variant MELA-AU 1 85510558 85510558 single base substitution T G intron_variant MELA-AU 1 85510853 85510853 single base substitution G A intron_variant MELA-AU 1 85511140 85511140 single base substitution A T intron_variant MELA-AU 1 85511241 85511241 single base substitution T A intron_variant MELA-AU 1 85511946 85511946 single base substitution G A intron_variant MELA-AU 1 85512139 85512139 single base substitution G A intron_variant MELA-AU 1 85512495 85512495 single base substitution G C intron_variant MELA-AU 1 85512643 85512643 single base substitution G A intron_variant MELA-AU 1 85513387 85513387 single base substitution T G intron_variant MELA-AU 1 85513456 85513456 single base substitution A G intron_variant MELA-AU 1 85514906 85514906 single base substitution T A intron_variant MELA-AU 1 85515457 85515457 single base substitution C G intron_variant MELA-AU 1 85516101 85516101 single base substitution G T intron_variant MELA-AU 1 85516853 85516853 single base substitution G A intron_variant MELA-AU 1 85516868 85516868 single base substitution T C intron_variant MELA-AU 1 85518093 85518093 single base substitution G C intron_variant MELA-AU 1 85518096 85518096 single base substitution C T intron_variant MELA-AU 1 85518199 85518199 single base substitution G C intron_variant MELA-AU 1 85518235 85518235 single base substitution G A intron_variant MELA-AU 1 85518805 85518805 single base substitution C T intron_variant MELA-AU 1 85518880 85518880 single base substitution C T intron_variant MELA-AU 1 85519380 85519380 single base substitution G A intron_variant MELA-AU 1 85520935 85520935 single base substitution G A intron_variant MELA-AU 1 85521623 85521623 single base substitution C T intron_variant MELA-AU 1 85522009 85522009 single base substitution C T intron_variant MELA-AU 1 85522085 85522085 single base substitution G A intron_variant MELA-AU 1 85522261 85522261 single base substitution C T intron_variant MELA-AU 1 85523262 85523262 single base substitution C T intron_variant MELA-AU 1 85523262 85523262 single base substitution C T upstream_gene_variant MELA-AU 1 85523544 85523544 single base substitution C T intron_variant MELA-AU 1 85523544 85523544 single base substitution C T upstream_gene_variant MELA-AU 1 85525768 85525768 single base substitution C T intron_variant MELA-AU 1 85525768 85525768 single base substitution C T upstream_gene_variant MELA-AU 1 85525801 85525801 single base substitution G A intron_variant MELA-AU 1 85525801 85525801 single base substitution G A upstream_gene_variant MELA-AU 1 85527228 85527229 deletion of <=200bp AT - intron_variant MELA-AU 1 85527228 85527229 deletion of <=200bp AT - upstream_gene_variant MELA-AU 1 85527719 85527719 single base substitution C T intron_variant MELA-AU 1 85527719 85527719 single base substitution C T upstream_gene_variant MELA-AU 1 85528716 85528716 single base substitution C T intron_variant MELA-AU 1 85530495 85530495 single base substitution C T intron_variant MELA-AU 1 85530759 85530759 single base substitution T C intron_variant MELA-AU 1 85530987 85530987 single base substitution A G intron_variant MELA-AU 1 85531092 85531092 single base substitution C T intron_variant MELA-AU 1 85531236 85531237 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 85531629 85531629 single base substitution G A intron_variant MELA-AU 1 85531939 85531939 single base substitution C T intron_variant MELA-AU 1 85532050 85532050 single base substitution G A intron_variant MELA-AU 1 85532172 85532172 single base substitution G A intron_variant MELA-AU 1 85532500 85532500 single base substitution T C intron_variant MELA-AU 1 85532514 85532514 single base substitution C T intron_variant MELA-AU 1 85534170 85534170 single base substitution C T intron_variant MELA-AU 1 85534260 85534260 single base substitution C T intron_variant MELA-AU 1 85534369 85534369 single base substitution C T intron_variant MELA-AU 1 85535007 85535007 single base substitution C T intron_variant MELA-AU 1 85535463 85535463 single base substitution G A intron_variant MELA-AU 1 85535654 85535654 single base substitution C T intron_variant MELA-AU 1 85536294 85536294 single base substitution T C intron_variant MELA-AU 1 85537892 85537892 single base substitution A T intron_variant MELA-AU 1 85538335 85538335 single base substitution A C intron_variant MELA-AU 1 85538655 85538655 single base substitution A G intron_variant MELA-AU 1 85539302 85539302 single base substitution C T intron_variant MELA-AU 1 85540537 85540537 single base substitution C T intron_variant MELA-AU 1 85540623 85540623 single base substitution C T intron_variant MELA-AU 1 85540722 85540722 single base substitution C T intron_variant MELA-AU 1 85541659 85541659 single base substitution A T intron_variant MELA-AU 1 85541703 85541703 single base substitution G T intron_variant MELA-AU 1 85541773 85541773 single base substitution A C intron_variant MELA-AU 1 85541864 85541864 single base substitution C T intron_variant MELA-AU 1 85541916 85541916 single base substitution G A intron_variant MELA-AU 1 85541918 85541918 single base substitution C T intron_variant MELA-AU 1 85541957 85541957 single base substitution C T intron_variant MELA-AU 1 85542098 85542098 single base substitution C T intron_variant MELA-AU 1 85542226 85542226 single base substitution C T intron_variant MELA-AU 1 85542377 85542377 single base substitution G A intron_variant MELA-AU 1 85543208 85543208 single base substitution C T intron_variant MELA-AU 1 85543894 85543894 single base substitution C T intron_variant MELA-AU 1 85545557 85545557 single base substitution C T intron_variant MELA-AU 1 85545819 85545819 single base substitution C T intron_variant MELA-AU 1 85545969 85545969 single base substitution C T intron_variant MELA-AU 1 85546565 85546565 single base substitution T A intron_variant MELA-AU 1 85546817 85546817 single base substitution T C intron_variant MELA-AU 1 85547112 85547112 single base substitution C T intron_variant MELA-AU 1 85547231 85547232 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 85547325 85547325 single base substitution C T intron_variant MELA-AU 1 85547378 85547378 single base substitution C T intron_variant MELA-AU 1 85547422 85547422 single base substitution C T intron_variant MELA-AU 1 85547619 85547619 single base substitution C T intron_variant MELA-AU 1 85547757 85547757 single base substitution C T intron_variant MELA-AU 1 85548251 85548252 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 85548593 85548593 insertion of <=200bp - CAGGT intron_variant MELA-AU 1 85548878 85548878 single base substitution A G intron_variant MELA-AU 1 85548958 85548959 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 85549092 85549093 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 85549784 85549784 single base substitution C T intron_variant MELA-AU 1 85549856 85549856 single base substitution A G intron_variant MELA-AU 1 85549858 85549858 single base substitution G A intron_variant MELA-AU 1 85550438 85550438 single base substitution C T downstream_gene_variant MELA-AU 1 85550438 85550438 single base substitution C T intron_variant MELA-AU 1 85550833 85550833 single base substitution C T downstream_gene_variant MELA-AU 1 85550833 85550833 single base substitution C T intron_variant MELA-AU 1 85551371 85551371 single base substitution C G downstream_gene_variant MELA-AU 1 85551371 85551371 single base substitution C G intron_variant MELA-AU 1 85552444 85552444 single base substitution G T downstream_gene_variant MELA-AU 1 85552444 85552444 single base substitution G T intron_variant MELA-AU 1 85552916 85552916 single base substitution C T downstream_gene_variant MELA-AU 1 85552916 85552916 single base substitution C T intron_variant MELA-AU 1 85553490 85553490 single base substitution C T downstream_gene_variant MELA-AU 1 85553490 85553490 single base substitution C T intron_variant MELA-AU 1 85553972 85553972 single base substitution C T downstream_gene_variant MELA-AU 1 85553972 85553972 single base substitution C T intron_variant MELA-AU 1 85554021 85554021 single base substitution C T downstream_gene_variant MELA-AU 1 85554021 85554021 single base substitution C T intron_variant MELA-AU 1 85554591 85554591 single base substitution C T downstream_gene_variant MELA-AU 1 85554591 85554591 single base substitution C T intron_variant MELA-AU 1 85554694 85554694 single base substitution T A downstream_gene_variant MELA-AU 1 85554694 85554694 single base substitution T A intron_variant MELA-AU 1 85554705 85554705 single base substitution C T downstream_gene_variant MELA-AU 1 85554705 85554705 single base substitution C T intron_variant MELA-AU 1 85555408 85555408 single base substitution G A intron_variant MELA-AU 1 85555865 85555865 single base substitution A T exon_variant MELA-AU 1 85555865 85555865 single base substitution A T intron_variant MELA-AU 1 85555865 85555865 single base substitution A T synonymous_variant T269T 807A>T MELA-AU 1 85555987 85555988 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 1 85556701 85556701 single base substitution C T intron_variant MELA-AU 1 85557032 85557032 single base substitution C T intron_variant MELA-AU 1 85557431 85557431 single base substitution C T intron_variant MELA-AU 1 85557448 85557448 single base substitution C T intron_variant MELA-AU 1 85558142 85558142 single base substitution G T intron_variant MELA-AU 1 85559201 85559202 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 85559201 85559202 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant YL267YF MELA-AU 1 85559201 85559202 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant YL306YF MELA-AU 1 85559501 85559501 single base substitution C T exon_variant MELA-AU 1 85559501 85559501 single base substitution C T intron_variant MELA-AU 1 85559878 85559878 single base substitution C T 3_prime_UTR_variant MELA-AU 1 85559878 85559878 single base substitution C T intron_variant MELA-AU 1 85560694 85560694 single base substitution G T intron_variant MELA-AU 1 85561016 85561016 single base substitution C T intron_variant MELA-AU 1 85561581 85561581 single base substitution C T intron_variant MELA-AU 1 85561602 85561602 single base substitution G A intron_variant MELA-AU 1 85562036 85562036 single base substitution C T intron_variant MELA-AU 1 85562141 85562141 single base substitution G A intron_variant MELA-AU 1 85562154 85562154 single base substitution T A intron_variant MELA-AU 1 85562371 85562371 single base substitution G A intron_variant MELA-AU 1 85562600 85562600 single base substitution A G intron_variant MELA-AU 1 85562808 85562808 single base substitution T C intron_variant MELA-AU 1 85564428 85564428 single base substitution C T intron_variant MELA-AU 1 85564843 85564843 single base substitution T C intron_variant MELA-AU 1 85565107 85565108 multiple base substitution (>=2bp and <=200bp) GT CA intron_variant MELA-AU 1 85566978 85566978 single base substitution A C intron_variant MELA-AU 1 85566980 85566980 single base substitution G T intron_variant MELA-AU 1 85567131 85567131 single base substitution C T intron_variant MELA-AU 1 85567355 85567355 single base substitution G A intron_variant MELA-AU 1 85567677 85567677 single base substitution A G intron_variant MELA-AU 1 85567835 85567835 single base substitution A G intron_variant MELA-AU 1 85568023 85568023 single base substitution C T intron_variant MELA-AU 1 85568262 85568262 single base substitution T C intron_variant MELA-AU 1 85568630 85568630 single base substitution C T intron_variant MELA-AU 1 85568792 85568792 single base substitution C T intron_variant MELA-AU 1 85568794 85568794 single base substitution C T intron_variant MELA-AU 1 85568929 85568929 single base substitution T A intron_variant MELA-AU 1 85569442 85569442 single base substitution T G intron_variant MELA-AU 1 85570048 85570048 single base substitution C T intron_variant MELA-AU 1 85570516 85570516 single base substitution C T intron_variant MELA-AU 1 85570759 85570759 single base substitution C T intron_variant MELA-AU 1 85571561 85571561 single base substitution G A intron_variant MELA-AU 1 85573706 85573706 single base substitution T C intron_variant MELA-AU 1 85573800 85573800 single base substitution T C 3_prime_UTR_variant MELA-AU 1 85573800 85573800 single base substitution T C synonymous_variant I507I 1521T>C MELA-AU 1 85573800 85573800 single base substitution T C synonymous_variant I546I 1638T>C MELA-AU 1 85574538 85574538 single base substitution C T intron_variant MELA-AU 1 85574717 85574717 single base substitution C T intron_variant MELA-AU 1 85574970 85574970 single base substitution C T intron_variant MELA-AU 1 85575102 85575102 single base substitution C T intron_variant MELA-AU 1 85575385 85575385 single base substitution G A intron_variant MELA-AU 1 85575790 85575790 single base substitution T G 3_prime_UTR_variant MELA-AU 1 85575790 85575790 single base substitution T G missense_variant N547K 1641T>G MELA-AU 1 85575790 85575790 single base substitution T G missense_variant N586K 1758T>G MELA-AU 1 85576088 85576088 single base substitution C T intron_variant MELA-AU 1 85576134 85576134 insertion of <=200bp - AAATAAAT intron_variant MELA-AU 1 85576261 85576261 single base substitution C T intron_variant MELA-AU 1 85576775 85576775 single base substitution T C intron_variant MELA-AU 1 85576789 85576789 single base substitution C T intron_variant MELA-AU 1 85576790 85576790 single base substitution C T intron_variant MELA-AU 1 85577724 85577724 single base substitution C T intron_variant MELA-AU 1 85578258 85578258 single base substitution C T intron_variant MELA-AU 1 85578266 85578266 single base substitution C T intron_variant MELA-AU 1 85578401 85578401 single base substitution C T intron_variant MELA-AU 1 85578440 85578440 single base substitution C T intron_variant MELA-AU 1 85578718 85578718 single base substitution C T intron_variant MELA-AU 1 85579929 85579929 single base substitution C T intron_variant MELA-AU 1 85580016 85580016 single base substitution T G intron_variant MELA-AU 1 85580134 85580134 single base substitution C T intron_variant MELA-AU 1 85580434 85580434 single base substitution C T intron_variant MELA-AU 1 85580690 85580690 single base substitution C G intron_variant MELA-AU 1 85580746 85580746 single base substitution G T intron_variant MELA-AU 1 85581050 85581050 single base substitution C T intron_variant MELA-AU 1 85581287 85581287 single base substitution C T intron_variant MELA-AU 1 85581560 85581560 single base substitution C T intron_variant MELA-AU 1 85581562 85581562 single base substitution C T intron_variant MELA-AU 1 85582314 85582314 single base substitution A T intron_variant MELA-AU 1 85583006 85583006 single base substitution C T intron_variant MELA-AU 1 85583248 85583248 single base substitution T A intron_variant MELA-AU 1 85583408 85583408 single base substitution A G splice_region_variant MELA-AU 1 85584087 85584087 single base substitution C T intron_variant MELA-AU 1 85585373 85585373 single base substitution C T intron_variant MELA-AU 1 85585469 85585469 single base substitution C T intron_variant MELA-AU 1 85586195 85586195 single base substitution T A intron_variant MELA-AU 1 85586206 85586206 single base substitution C T intron_variant MELA-AU 1 85586936 85586936 single base substitution A G intron_variant MELA-AU 1 85587417 85587417 single base substitution A G intron_variant MELA-AU 1 85587417 85587417 single base substitution A G upstream_gene_variant MELA-AU 1 85587444 85587444 single base substitution T G 3_prime_UTR_variant MELA-AU 1 85587444 85587444 single base substitution T G missense_variant V604G 1811T>G MELA-AU 1 85587444 85587444 single base substitution T G missense_variant V643G 1928T>G MELA-AU 1 85587444 85587444 single base substitution T G upstream_gene_variant MELA-AU 1 85587518 85587518 single base substitution G A intron_variant MELA-AU 1 85587518 85587518 single base substitution G A upstream_gene_variant MELA-AU 1 85588228 85588228 single base substitution C T intron_variant MELA-AU 1 85588228 85588228 single base substitution C T upstream_gene_variant MELA-AU 1 85589117 85589117 single base substitution T G intron_variant MELA-AU 1 85589117 85589117 single base substitution T G upstream_gene_variant MELA-AU 1 85589450 85589450 single base substitution C T intron_variant MELA-AU 1 85589450 85589450 single base substitution C T upstream_gene_variant MELA-AU 1 85589600 85589600 single base substitution C T intron_variant MELA-AU 1 85589600 85589600 single base substitution C T upstream_gene_variant MELA-AU 1 85589607 85589607 single base substitution G A intron_variant MELA-AU 1 85589607 85589607 single base substitution G A upstream_gene_variant MELA-AU 1 85589626 85589626 single base substitution C T intron_variant MELA-AU 1 85589626 85589626 single base substitution C T upstream_gene_variant MELA-AU 1 85590125 85590125 single base substitution C T intron_variant MELA-AU 1 85590125 85590125 single base substitution C T upstream_gene_variant MELA-AU 1 85590530 85590530 single base substitution C T intron_variant MELA-AU 1 85590530 85590530 single base substitution C T upstream_gene_variant MELA-AU 1 85591450 85591450 single base substitution G A intron_variant MELA-AU 1 85591450 85591450 single base substitution G A upstream_gene_variant MELA-AU 1 85592174 85592174 single base substitution T A intron_variant MELA-AU 1 85592174 85592174 single base substitution T A upstream_gene_variant MELA-AU 1 85592490 85592490 single base substitution T A intron_variant MELA-AU 1 85592542 85592542 single base substitution C T intron_variant MELA-AU 1 85592731 85592731 single base substitution C T intron_variant MELA-AU 1 85592816 85592816 single base substitution C T intron_variant MELA-AU 1 85593716 85593716 single base substitution G A intron_variant MELA-AU 1 85594468 85594468 single base substitution C T 3_prime_UTR_variant MELA-AU 1 85594468 85594468 single base substitution C T missense_variant P760S 2278C>T MELA-AU 1 85594468 85594468 single base substitution C T missense_variant P799S 2395C>T MELA-AU 1 85594468 85594468 single base substitution C T missense_variant P81S 241C>T MELA-AU 1 85594769 85594769 single base substitution C T intron_variant MELA-AU 1 85595258 85595258 single base substitution C T intron_variant MELA-AU 1 85595416 85595416 single base substitution T G intron_variant MELA-AU 1 85595938 85595938 single base substitution C T downstream_gene_variant MELA-AU 1 85595938 85595938 single base substitution C T intron_variant MELA-AU 1 85596379 85596379 single base substitution G A downstream_gene_variant MELA-AU 1 85596379 85596379 single base substitution G A intron_variant MELA-AU 1 85596423 85596423 single base substitution G A downstream_gene_variant MELA-AU 1 85596423 85596423 single base substitution G A intron_variant MELA-AU 1 85596722 85596722 single base substitution C T downstream_gene_variant MELA-AU 1 85596722 85596722 single base substitution C T intron_variant MELA-AU 1 85597020 85597020 single base substitution G A downstream_gene_variant MELA-AU 1 85597020 85597020 single base substitution G A intron_variant MELA-AU 1 85598299 85598299 single base substitution G A downstream_gene_variant MELA-AU 1 85598299 85598299 single base substitution G A intron_variant MELA-AU 1 85598359 85598359 single base substitution C T downstream_gene_variant MELA-AU 1 85598359 85598359 single base substitution C T intron_variant MELA-AU 1 85598717 85598717 single base substitution C T 3_prime_UTR_variant MELA-AU 1 85598717 85598717 single base substitution C T downstream_gene_variant MELA-AU 1 85599139 85599139 insertion of <=200bp - AT downstream_gene_variant MELA-AU 1 85599359 85599359 single base substitution A T downstream_gene_variant MELA-AU 1 85599555 85599555 single base substitution A G downstream_gene_variant MELA-AU 1 85600397 85600397 single base substitution C T downstream_gene_variant MELA-AU 1 85600555 85600555 single base substitution C T downstream_gene_variant MELA-AU 1 85600598 85600598 single base substitution C T downstream_gene_variant MELA-AU 1 85600710 85600710 single base substitution C T downstream_gene_variant MELA-AU 1 85600908 85600908 single base substitution A T downstream_gene_variant MELA-AU 1 85601012 85601013 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 85601052 85601052 single base substitution G A downstream_gene_variant MELA-AU 1 85601222 85601222 single base substitution C G downstream_gene_variant MELA-AU 1 85601231 85601231 single base substitution C T downstream_gene_variant MELA-AU 1 85601233 85601233 single base substitution C T downstream_gene_variant MELA-AU 1 85601894 85601894 single base substitution T C downstream_gene_variant MELA-AU 1 85602623 85602623 single base substitution C T downstream_gene_variant MELA-AU 1 85603065 85603065 single base substitution C T downstream_gene_variant MELA-AU 1 85603572 85603572 single base substitution G A downstream_gene_variant ORCA-IN 1 85460297 85460297 single base substitution C T upstream_gene_variant ORCA-IN 1 85467444 85467444 single base substitution G A intron_variant ORCA-IN 1 85474091 85474091 single base substitution C G intron_variant ORCA-IN 1 85533952 85533952 single base substitution C G intron_variant ORCA-IN 1 85538684 85538684 single base substitution G C intron_variant ORCA-IN 1 85543406 85543406 single base substitution C A intron_variant ORCA-IN 1 85574620 85574620 single base substitution G A intron_variant ORCA-IN 1 85575066 85575066 single base substitution A G intron_variant ORCA-IN 1 85602959 85602959 single base substitution C G downstream_gene_variant OV-AU 1 85460252 85460252 single base substitution C T upstream_gene_variant OV-AU 1 85465919 85465919 single base substitution G A intron_variant OV-AU 1 85467449 85467449 single base substitution C T intron_variant OV-AU 1 85468144 85468144 single base substitution C T intron_variant OV-AU 1 85468950 85468950 single base substitution C T intron_variant OV-AU 1 85471160 85471160 single base substitution C A intron_variant OV-AU 1 85480005 85480005 single base substitution G C intron_variant OV-AU 1 85483454 85483454 single base substitution G A intron_variant OV-AU 1 85484892 85484892 single base substitution A G intron_variant OV-AU 1 85485468 85485468 single base substitution T A intron_variant OV-AU 1 85487850 85487850 single base substitution G A intron_variant OV-AU 1 85490460 85490460 single base substitution C G intron_variant OV-AU 1 85497616 85497616 single base substitution G A intron_variant OV-AU 1 85498087 85498087 single base substitution T C intron_variant OV-AU 1 85498137 85498137 single base substitution T C intron_variant OV-AU 1 85512361 85512361 single base substitution G A intron_variant OV-AU 1 85514183 85514183 single base substitution C G intron_variant OV-AU 1 85517485 85517485 single base substitution G T intron_variant OV-AU 1 85517994 85517994 single base substitution G A intron_variant OV-AU 1 85519490 85519490 single base substitution C G intron_variant OV-AU 1 85522327 85522327 single base substitution A G intron_variant OV-AU 1 85523930 85523930 single base substitution C G intron_variant OV-AU 1 85523930 85523930 single base substitution C G upstream_gene_variant OV-AU 1 85524167 85524167 single base substitution C G intron_variant OV-AU 1 85524167 85524167 single base substitution C G upstream_gene_variant OV-AU 1 85524384 85524384 single base substitution C T intron_variant OV-AU 1 85524384 85524384 single base substitution C T upstream_gene_variant OV-AU 1 85524775 85524775 single base substitution T G intron_variant OV-AU 1 85524775 85524775 single base substitution T G upstream_gene_variant OV-AU 1 85527870 85527870 single base substitution C G intron_variant OV-AU 1 85527870 85527870 single base substitution C G upstream_gene_variant OV-AU 1 85527908 85527908 single base substitution A G intron_variant OV-AU 1 85527908 85527908 single base substitution A G upstream_gene_variant OV-AU 1 85530000 85530000 single base substitution A G intron_variant OV-AU 1 85536780 85536780 single base substitution A G intron_variant OV-AU 1 85540211 85540211 single base substitution C T intron_variant OV-AU 1 85547617 85547617 single base substitution C T intron_variant OV-AU 1 85548395 85548395 single base substitution C A intron_variant OV-AU 1 85556782 85556782 single base substitution T C intron_variant OV-AU 1 85572903 85572903 single base substitution C G intron_variant OV-AU 1 85574836 85574836 single base substitution G A intron_variant OV-AU 1 85581571 85581571 single base substitution C G intron_variant OV-AU 1 85582479 85582479 single base substitution G C intron_variant OV-AU 1 85587134 85587134 single base substitution A T intron_variant OV-AU 1 85590186 85590186 single base substitution A G intron_variant OV-AU 1 85590186 85590186 single base substitution A G upstream_gene_variant OV-AU 1 85595116 85595116 single base substitution C G intron_variant OV-AU 1 85600703 85600703 single base substitution T C downstream_gene_variant OV-AU 1 85601242 85601242 single base substitution G C downstream_gene_variant OV-AU 1 85602165 85602165 single base substitution A T downstream_gene_variant PACA-AU 1 85461845 85461845 single base substitution G A upstream_gene_variant PACA-AU 1 85462461 85462461 single base substitution G A upstream_gene_variant PACA-AU 1 85465653 85465653 single base substitution T C intron_variant PACA-AU 1 85470454 85470454 single base substitution C A intron_variant PACA-AU 1 85472317 85472317 single base substitution C T intron_variant PACA-AU 1 85480227 85480227 single base substitution T C intron_variant PACA-AU 1 85480312 85480312 single base substitution C G intron_variant PACA-AU 1 85487857 85487857 single base substitution G A intron_variant PACA-AU 1 85487949 85487949 single base substitution A G intron_variant PACA-AU 1 85488105 85488105 single base substitution T C intron_variant PACA-AU 1 85491529 85491529 single base substitution C A intron_variant PACA-AU 1 85493478 85493478 single base substitution C T intron_variant PACA-AU 1 85497465 85497465 single base substitution G A intron_variant PACA-AU 1 85499910 85499910 single base substitution C T intron_variant PACA-AU 1 85503120 85503120 single base substitution A G intron_variant PACA-AU 1 85505474 85505474 single base substitution T A intron_variant PACA-AU 1 85507104 85507104 single base substitution C G intron_variant PACA-AU 1 85509328 85509328 single base substitution G A intron_variant PACA-AU 1 85521649 85521649 single base substitution A C intron_variant PACA-AU 1 85526916 85526916 single base substitution T C intron_variant PACA-AU 1 85526916 85526916 single base substitution T C upstream_gene_variant PACA-AU 1 85527073 85527073 single base substitution C T intron_variant PACA-AU 1 85527073 85527073 single base substitution C T upstream_gene_variant PACA-AU 1 85527990 85527990 single base substitution G A intron_variant PACA-AU 1 85527990 85527990 single base substitution G A upstream_gene_variant PACA-AU 1 85528733 85528733 single base substitution C T intron_variant PACA-AU 1 85531570 85531570 single base substitution A C intron_variant PACA-AU 1 85535629 85535662 deletion of <=200bp TAAAATATTGATTAGATAATAAAATCCTGCTTTT - intron_variant PACA-AU 1 85538733 85538733 single base substitution C A intron_variant PACA-AU 1 85538733 85538733 single base substitution C A splice_region_variant PACA-AU 1 85539153 85539153 single base substitution G T intron_variant PACA-AU 1 85539181 85539181 single base substitution A G intron_variant PACA-AU 1 85541358 85541358 single base substitution C A intron_variant PACA-AU 1 85545118 85545118 single base substitution G C intron_variant PACA-AU 1 85545791 85545791 insertion of <=200bp - GTG intron_variant PACA-AU 1 85547901 85547901 single base substitution G A intron_variant PACA-AU 1 85548897 85548897 single base substitution G A intron_variant PACA-AU 1 85549912 85549912 single base substitution G A intron_variant PACA-AU 1 85553139 85553139 single base substitution A G downstream_gene_variant PACA-AU 1 85553139 85553139 single base substitution A G intron_variant PACA-AU 1 85554079 85554079 single base substitution G A downstream_gene_variant PACA-AU 1 85554079 85554079 single base substitution G A intron_variant PACA-AU 1 85558999 85558999 single base substitution G T intron_variant PACA-AU 1 85560817 85560817 single base substitution G T intron_variant PACA-AU 1 85569335 85569335 single base substitution C T intron_variant PACA-AU 1 85570004 85570004 single base substitution C T intron_variant PACA-AU 1 85570436 85570436 deletion of <=200bp A - intron_variant PACA-AU 1 85570567 85570567 single base substitution T C intron_variant PACA-AU 1 85570583 85570583 single base substitution C G intron_variant PACA-AU 1 85576059 85576059 single base substitution G A intron_variant PACA-AU 1 85576134 85576134 insertion of <=200bp - AAATAAATAAAT intron_variant PACA-AU 1 85585467 85585467 single base substitution A C intron_variant PACA-AU 1 85592779 85592779 single base substitution T C intron_variant PACA-AU 1 85594545 85594545 single base substitution A T intron_variant PACA-AU 1 85598759 85598759 insertion of <=200bp - AT 3_prime_UTR_variant PACA-AU 1 85598759 85598759 insertion of <=200bp - AT downstream_gene_variant PACA-AU 1 85603513 85603513 single base substitution G A downstream_gene_variant PACA-CA 1 85461488 85461488 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 85461489 85461489 single base substitution T A upstream_gene_variant PACA-CA 1 85465539 85465539 deletion of <=200bp A - intron_variant PACA-CA 1 85469112 85469112 single base substitution C A intron_variant PACA-CA 1 85469546 85469546 single base substitution A T intron_variant PACA-CA 1 85472430 85472430 insertion of <=200bp - A intron_variant PACA-CA 1 85473509 85473509 single base substitution G A intron_variant PACA-CA 1 85473798 85473798 single base substitution C G intron_variant PACA-CA 1 85477083 85477083 single base substitution T C intron_variant PACA-CA 1 85478751 85478751 single base substitution G A intron_variant PACA-CA 1 85491953 85491953 single base substitution G A intron_variant PACA-CA 1 85497033 85497033 single base substitution A C intron_variant PACA-CA 1 85497408 85497408 insertion of <=200bp - A intron_variant PACA-CA 1 85504635 85504635 single base substitution G A intron_variant PACA-CA 1 85505465 85505465 insertion of <=200bp - A intron_variant PACA-CA 1 85507291 85507291 single base substitution G T intron_variant PACA-CA 1 85510722 85510722 single base substitution A G intron_variant PACA-CA 1 85511395 85511395 single base substitution G T intron_variant PACA-CA 1 85512180 85512180 single base substitution G A intron_variant PACA-CA 1 85519431 85519431 single base substitution G A intron_variant PACA-CA 1 85520043 85520043 single base substitution G A intron_variant PACA-CA 1 85520378 85520378 insertion of <=200bp - C intron_variant PACA-CA 1 85521735 85521735 single base substitution A T intron_variant PACA-CA 1 85525964 85525964 single base substitution G C intron_variant PACA-CA 1 85525964 85525964 single base substitution G C upstream_gene_variant PACA-CA 1 85526059 85526059 single base substitution G A intron_variant PACA-CA 1 85526059 85526059 single base substitution G A upstream_gene_variant PACA-CA 1 85526212 85526212 single base substitution G A intron_variant PACA-CA 1 85526212 85526212 single base substitution G A upstream_gene_variant PACA-CA 1 85527371 85527371 single base substitution T A intron_variant PACA-CA 1 85527371 85527371 single base substitution T A upstream_gene_variant PACA-CA 1 85528649 85528649 single base substitution G A intron_variant PACA-CA 1 85529126 85529126 single base substitution C T intron_variant PACA-CA 1 85532583 85532583 single base substitution A C intron_variant PACA-CA 1 85539153 85539153 single base substitution G A intron_variant PACA-CA 1 85539287 85539287 single base substitution T G intron_variant PACA-CA 1 85539566 85539566 single base substitution C T intron_variant PACA-CA 1 85541228 85541228 single base substitution T G intron_variant PACA-CA 1 85545090 85545090 single base substitution T G intron_variant PACA-CA 1 85546004 85546004 single base substitution G A intron_variant PACA-CA 1 85546976 85546976 single base substitution C T exon_variant PACA-CA 1 85546976 85546976 single base substitution C T stop_gained R42* 124C>T PACA-CA 1 85546976 85546976 single base substitution C T stop_gained R55* 163C>T PACA-CA 1 85548822 85548822 single base substitution G C intron_variant PACA-CA 1 85549858 85549858 single base substitution G A intron_variant PACA-CA 1 85552697 85552697 single base substitution A T downstream_gene_variant PACA-CA 1 85552697 85552697 single base substitution A T intron_variant PACA-CA 1 85555369 85555369 single base substitution A G intron_variant PACA-CA 1 85556938 85556938 single base substitution C A intron_variant PACA-CA 1 85559351 85559351 single base substitution G T intron_variant PACA-CA 1 85561336 85561336 single base substitution C T intron_variant PACA-CA 1 85561558 85561558 single base substitution G A intron_variant PACA-CA 1 85563660 85563660 single base substitution G C intron_variant PACA-CA 1 85564937 85564937 single base substitution G A intron_variant PACA-CA 1 85565348 85565348 single base substitution T C intron_variant PACA-CA 1 85566493 85566493 single base substitution C A intron_variant PACA-CA 1 85566668 85566668 single base substitution A G intron_variant PACA-CA 1 85569964 85569964 single base substitution C T intron_variant PACA-CA 1 85573305 85573305 single base substitution G T intron_variant PACA-CA 1 85573936 85573937 deletion of <=200bp AC - intron_variant PACA-CA 1 85578273 85578273 single base substitution A G intron_variant PACA-CA 1 85579869 85579869 single base substitution T A intron_variant PACA-CA 1 85582628 85582628 single base substitution A T intron_variant PACA-CA 1 85582667 85582667 single base substitution T C intron_variant PACA-CA 1 85582931 85582931 single base substitution A T intron_variant PACA-CA 1 85590911 85590911 single base substitution T G intron_variant PACA-CA 1 85590911 85590911 single base substitution T G upstream_gene_variant PACA-CA 1 85596772 85596772 single base substitution C T downstream_gene_variant PACA-CA 1 85596772 85596772 single base substitution C T intron_variant PACA-CA 1 85597019 85597019 single base substitution C T downstream_gene_variant PACA-CA 1 85597019 85597019 single base substitution C T intron_variant PACA-CA 1 85597217 85597217 single base substitution T C downstream_gene_variant PACA-CA 1 85597217 85597217 single base substitution T C intron_variant PACA-CA 1 85603424 85603424 single base substitution C A downstream_gene_variant PAEN-AU 1 85585057 85585057 single base substitution C T intron_variant PAEN-AU 1 85597843 85597843 single base substitution A G downstream_gene_variant PAEN-AU 1 85597843 85597843 single base substitution A G intron_variant PAEN-IT 1 85480529 85480529 single base substitution T C intron_variant PAEN-IT 1 85596142 85596142 single base substitution C T downstream_gene_variant PAEN-IT 1 85596142 85596142 single base substitution C T intron_variant PBCA-DE 1 85465459 85465459 single base substitution C T intron_variant PBCA-DE 1 85467817 85467817 single base substitution C A intron_variant PBCA-DE 1 85473533 85473533 single base substitution C A intron_variant PBCA-DE 1 85474151 85474151 single base substitution T C intron_variant PBCA-DE 1 85476117 85476117 insertion of <=200bp - A intron_variant PBCA-DE 1 85478293 85478293 insertion of <=200bp - A intron_variant PBCA-DE 1 85481465 85481465 deletion of <=200bp A - intron_variant PBCA-DE 1 85482937 85482937 deletion of <=200bp T - intron_variant PBCA-DE 1 85505473 85505473 single base substitution A T intron_variant PBCA-DE 1 85507628 85507629 deletion of <=200bp CT - intron_variant PBCA-DE 1 85513430 85513430 deletion of <=200bp T - intron_variant PBCA-DE 1 85523355 85523355 single base substitution T C intron_variant PBCA-DE 1 85523355 85523355 single base substitution T C upstream_gene_variant PBCA-DE 1 85524523 85524523 single base substitution C A intron_variant PBCA-DE 1 85524523 85524523 single base substitution C A upstream_gene_variant PBCA-DE 1 85527222 85527222 single base substitution A G intron_variant PBCA-DE 1 85527222 85527222 single base substitution A G upstream_gene_variant PBCA-DE 1 85528833 85528833 single base substitution G C intron_variant PBCA-DE 1 85529513 85529513 single base substitution G A intron_variant PBCA-DE 1 85529680 85529680 single base substitution T A intron_variant PBCA-DE 1 85542668 85542668 single base substitution G A intron_variant PBCA-DE 1 85548737 85548737 single base substitution G A intron_variant PBCA-DE 1 85550157 85550158 deletion of <=200bp AT - intron_variant PBCA-DE 1 85563297 85563297 single base substitution A C 3_prime_UTR_variant PBCA-DE 1 85563297 85563297 single base substitution A C missense_variant I398L 1192A>C PBCA-DE 1 85563297 85563297 single base substitution A C missense_variant I437L 1309A>C PBCA-DE 1 85564519 85564519 single base substitution A G intron_variant PBCA-DE 1 85572528 85572528 single base substitution G A intron_variant PBCA-DE 1 85577052 85577052 single base substitution C T intron_variant PBCA-DE 1 85581602 85581602 single base substitution A G intron_variant PBCA-DE 1 85594654 85594654 deletion of <=200bp A - intron_variant PRAD-CA 1 85462665 85462665 single base substitution T G upstream_gene_variant PRAD-CA 1 85482981 85482981 single base substitution G C intron_variant PRAD-CA 1 85506940 85506940 single base substitution C T intron_variant PRAD-CA 1 85555452 85555452 single base substitution G A intron_variant PRAD-CA 1 85573273 85573273 single base substitution A T intron_variant PRAD-CA 1 85596856 85596856 single base substitution G A downstream_gene_variant PRAD-CA 1 85596856 85596856 single base substitution G A intron_variant PRAD-UK 1 85463826 85463826 single base substitution A C upstream_gene_variant PRAD-UK 1 85498282 85498282 single base substitution A G intron_variant PRAD-UK 1 85501798 85501798 single base substitution G A intron_variant PRAD-UK 1 85510460 85510460 single base substitution T A intron_variant PRAD-UK 1 85511816 85511816 single base substitution A T intron_variant PRAD-UK 1 85519724 85519724 single base substitution T A intron_variant PRAD-UK 1 85524827 85524827 single base substitution A G intron_variant PRAD-UK 1 85524827 85524827 single base substitution A G upstream_gene_variant PRAD-UK 1 85537135 85537135 single base substitution A T intron_variant PRAD-UK 1 85538896 85538896 single base substitution A C intron_variant PRAD-UK 1 85545324 85545324 single base substitution G T intron_variant PRAD-UK 1 85549746 85549746 deletion of <=200bp A - intron_variant PRAD-UK 1 85554233 85554233 single base substitution G T downstream_gene_variant PRAD-UK 1 85554233 85554233 single base substitution G T intron_variant PRAD-UK 1 85556573 85556573 single base substitution G C intron_variant PRAD-UK 1 85564554 85564554 single base substitution A C intron_variant PRAD-UK 1 85593755 85593755 single base substitution C T intron_variant PRAD-UK 1 85597591 85597591 single base substitution A G downstream_gene_variant PRAD-UK 1 85597591 85597591 single base substitution A G intron_variant PRAD-US 1 85510885 85510885 single base substitution G A intron_variant PRAD-US 1 85589838 85589838 single base substitution C T 3_prime_UTR_variant PRAD-US 1 85589838 85589838 single base substitution C T synonymous_variant D633D 1899C>T PRAD-US 1 85589838 85589838 single base substitution C T synonymous_variant D672D 2016C>T PRAD-US 1 85589838 85589838 single base substitution C T upstream_gene_variant READ-US 1 85486764 85486764 single base substitution C T intron_variant READ-US 1 85486850 85486850 single base substitution A C intron_variant READ-US 1 85587440 85587440 single base substitution G A 3_prime_UTR_variant READ-US 1 85587440 85587440 single base substitution G A missense_variant E603K 1807G>A READ-US 1 85587440 85587440 single base substitution G A missense_variant E642K 1924G>A READ-US 1 85587440 85587440 single base substitution G A upstream_gene_variant READ-US 1 85595745 85595745 single base substitution C T 3_prime_UTR_variant READ-US 1 85595745 85595745 single base substitution C T missense_variant R110C 328C>T READ-US 1 85595745 85595745 single base substitution C T missense_variant R789C 2365C>T READ-US 1 85595745 85595745 single base substitution C T missense_variant R828C 2482C>T READ-US 1 85595769 85595769 single base substitution G T 3_prime_UTR_variant READ-US 1 85595769 85595769 single base substitution G T stop_gained E118* 352G>T READ-US 1 85595769 85595769 single base substitution G T stop_gained E797* 2389G>T READ-US 1 85595769 85595769 single base substitution G T stop_gained E836* 2506G>T RECA-EU 1 85475125 85475125 single base substitution G A intron_variant RECA-EU 1 85488222 85488222 single base substitution A G intron_variant RECA-EU 1 85491632 85491632 single base substitution A G intron_variant RECA-EU 1 85502316 85502316 single base substitution A G intron_variant RECA-EU 1 85506842 85506842 single base substitution T A intron_variant RECA-EU 1 85508926 85508926 single base substitution G C intron_variant RECA-EU 1 85513226 85513226 single base substitution T C intron_variant RECA-EU 1 85531998 85531998 single base substitution T A intron_variant RECA-EU 1 85534915 85534915 single base substitution A T intron_variant RECA-EU 1 85538655 85538655 single base substitution A G intron_variant RECA-EU 1 85539143 85539143 single base substitution T G intron_variant RECA-EU 1 85568325 85568325 single base substitution G T intron_variant RECA-EU 1 85596379 85596379 single base substitution G A downstream_gene_variant RECA-EU 1 85596379 85596379 single base substitution G A intron_variant SKCA-BR 1 85461488 85461488 insertion of <=200bp - TAAAA upstream_gene_variant SKCA-BR 1 85462653 85462653 single base substitution A G upstream_gene_variant SKCA-BR 1 85463678 85463678 single base substitution G A upstream_gene_variant SKCA-BR 1 85463992 85463992 single base substitution A G upstream_gene_variant SKCA-BR 1 85464022 85464022 single base substitution A C upstream_gene_variant SKCA-BR 1 85467775 85467775 single base substitution A T intron_variant SKCA-BR 1 85469784 85469784 single base substitution G A intron_variant SKCA-BR 1 85470212 85470212 single base substitution T A intron_variant SKCA-BR 1 85471221 85471221 single base substitution C T intron_variant SKCA-BR 1 85472131 85472131 single base substitution T A intron_variant SKCA-BR 1 85473037 85473037 single base substitution C T intron_variant SKCA-BR 1 85476067 85476067 single base substitution A G intron_variant SKCA-BR 1 85476636 85476636 single base substitution T G intron_variant SKCA-BR 1 85477069 85477069 single base substitution C T intron_variant SKCA-BR 1 85482290 85482290 single base substitution A G intron_variant SKCA-BR 1 85482317 85482317 single base substitution G A intron_variant SKCA-BR 1 85483641 85483656 deletion of <=200bp ACCACAGCCTCTCACC - intron_variant SKCA-BR 1 85485386 85485386 single base substitution G A intron_variant SKCA-BR 1 85487888 85487888 single base substitution G A intron_variant SKCA-BR 1 85488551 85488551 single base substitution A G intron_variant SKCA-BR 1 85489770 85489770 single base substitution A G intron_variant SKCA-BR 1 85491271 85491272 deletion of <=200bp TA - intron_variant SKCA-BR 1 85494952 85494952 single base substitution A T intron_variant SKCA-BR 1 85494954 85494954 single base substitution T C intron_variant SKCA-BR 1 85500367 85500367 single base substitution T G intron_variant SKCA-BR 1 85501923 85501923 single base substitution G A intron_variant SKCA-BR 1 85504001 85504001 single base substitution G C intron_variant SKCA-BR 1 85512335 85512335 single base substitution T C intron_variant SKCA-BR 1 85513647 85513647 single base substitution A G intron_variant SKCA-BR 1 85513648 85513648 single base substitution G A intron_variant SKCA-BR 1 85515774 85515774 single base substitution G A intron_variant SKCA-BR 1 85518175 85518175 single base substitution C T intron_variant SKCA-BR 1 85521488 85521488 single base substitution C T intron_variant SKCA-BR 1 85529400 85529401 deletion of <=200bp AT - intron_variant SKCA-BR 1 85530263 85530267 deletion of <=200bp ATGTT - intron_variant SKCA-BR 1 85531348 85531348 single base substitution T C intron_variant SKCA-BR 1 85531997 85531997 insertion of <=200bp - CA intron_variant SKCA-BR 1 85531997 85531997 insertion of <=200bp - CAT intron_variant SKCA-BR 1 85536140 85536140 single base substitution C T intron_variant SKCA-BR 1 85538186 85538186 single base substitution G C intron_variant SKCA-BR 1 85538507 85538507 single base substitution G A intron_variant SKCA-BR 1 85538637 85538637 insertion of <=200bp - CA intron_variant SKCA-BR 1 85540103 85540103 single base substitution C G intron_variant SKCA-BR 1 85542806 85542806 single base substitution A G intron_variant SKCA-BR 1 85544040 85544040 single base substitution C G intron_variant SKCA-BR 1 85545723 85545723 single base substitution C T intron_variant SKCA-BR 1 85549803 85549803 single base substitution T C intron_variant SKCA-BR 1 85550618 85550618 single base substitution C T downstream_gene_variant SKCA-BR 1 85550618 85550618 single base substitution C T intron_variant SKCA-BR 1 85551987 85551987 single base substitution C T downstream_gene_variant SKCA-BR 1 85551987 85551987 single base substitution C T intron_variant SKCA-BR 1 85555067 85555067 single base substitution A G downstream_gene_variant SKCA-BR 1 85555067 85555067 single base substitution A G intron_variant SKCA-BR 1 85555523 85555523 single base substitution C T intron_variant SKCA-BR 1 85559140 85559140 single base substitution G T splice_acceptor_variant SKCA-BR 1 85560265 85560265 single base substitution C T intron_variant SKCA-BR 1 85561546 85561546 single base substitution T C intron_variant SKCA-BR 1 85562194 85562209 deletion of <=200bp TTATATATAAAGATTA - intron_variant SKCA-BR 1 85571870 85571870 single base substitution C T intron_variant SKCA-BR 1 85578185 85578185 single base substitution C T intron_variant SKCA-BR 1 85579385 85579385 single base substitution T C intron_variant SKCA-BR 1 85580738 85580738 single base substitution T A intron_variant SKCA-BR 1 85583323 85583323 single base substitution T A intron_variant SKCA-BR 1 85584979 85584979 single base substitution C A intron_variant SKCA-BR 1 85587255 85587255 single base substitution T C intron_variant SKCA-BR 1 85587255 85587255 single base substitution T C upstream_gene_variant SKCA-BR 1 85594921 85594921 single base substitution A C intron_variant SKCA-BR 1 85597146 85597147 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 1 85597146 85597147 deletion of <=200bp AT - intron_variant SKCA-BR 1 85597147 85597147 single base substitution T A downstream_gene_variant SKCA-BR 1 85597147 85597147 single base substitution T A intron_variant SKCA-BR 1 85601582 85601583 deletion of <=200bp TC - downstream_gene_variant SKCM-US 1 85484831 85484831 single base substitution G A intron_variant SKCM-US 1 85484831 85484831 single base substitution G T intron_variant SKCM-US 1 85499870 85499870 single base substitution G A intron_variant SKCM-US 1 85547084 85547084 deletion of <=200bp A - exon_variant SKCM-US 1 85547084 85547084 deletion of <=200bp A - frameshift_variant K78 SKCM-US 1 85547084 85547084 deletion of <=200bp A - frameshift_variant K91 SKCM-US 1 85559244 85559244 single base substitution C T exon_variant SKCM-US 1 85559244 85559244 single base substitution C T missense_variant H282Y 844C>T SKCM-US 1 85559244 85559244 single base substitution C T missense_variant H321Y 961C>T SKCM-US 1 85564319 85564319 single base substitution A G 3_prime_UTR_variant SKCM-US 1 85564319 85564319 single base substitution A G missense_variant H447R 1340A>G SKCM-US 1 85564319 85564319 single base substitution A G missense_variant H486R 1457A>G SKCM-US 1 85570255 85570255 single base substitution C T 3_prime_UTR_variant SKCM-US 1 85570255 85570255 single base substitution C T stop_gained Q471* 1411C>T SKCM-US 1 85570255 85570255 single base substitution C T stop_gained Q510* 1528C>T SKCM-US 1 85573801 85573801 single base substitution C T 3_prime_UTR_variant SKCM-US 1 85573801 85573801 single base substitution C T missense_variant P508S 1522C>T SKCM-US 1 85573801 85573801 single base substitution C T missense_variant P547S 1639C>T SKCM-US 1 85573824 85573824 single base substitution T A 3_prime_UTR_variant SKCM-US 1 85573824 85573824 single base substitution T A missense_variant F515L 1545T>A SKCM-US 1 85573824 85573824 single base substitution T A missense_variant F554L 1662T>A SKCM-US 1 85575818 85575818 single base substitution G A missense_variant D557N 1669G>A SKCM-US 1 85575818 85575818 single base substitution G A missense_variant D596N 1786G>A SKCM-US 1 85575818 85575818 single base substitution G A splice_region_variant SKCM-US 1 85587442 85587442 single base substitution A T 3_prime_UTR_variant SKCM-US 1 85587442 85587442 single base substitution A T missense_variant E603D 1809A>T SKCM-US 1 85587442 85587442 single base substitution A T missense_variant E642D 1926A>T SKCM-US 1 85587442 85587442 single base substitution A T upstream_gene_variant SKCM-US 1 85595745 85595745 single base substitution C T 3_prime_UTR_variant SKCM-US 1 85595745 85595745 single base substitution C T missense_variant R110C 328C>T SKCM-US 1 85595745 85595745 single base substitution C T missense_variant R789C 2365C>T SKCM-US 1 85595745 85595745 single base substitution C T missense_variant R828C 2482C>T SKCM-US 1 85595757 85595757 single base substitution A C 3_prime_UTR_variant SKCM-US 1 85595757 85595757 single base substitution A C missense_variant K114Q 340A>C SKCM-US 1 85595757 85595757 single base substitution A C missense_variant K793Q 2377A>C SKCM-US 1 85595757 85595757 single base substitution A C missense_variant K832Q 2494A>C STAD-US 1 85484879 85484879 single base substitution T A intron_variant STAD-US 1 85486830 85486830 single base substitution A C intron_variant STAD-US 1 85499799 85499799 single base substitution C T intron_variant STAD-US 1 85506730 85506730 single base substitution C T intron_variant STAD-US 1 85510984 85510984 single base substitution G A intron_variant STAD-US 1 85511015 85511015 single base substitution C T intron_variant STAD-US 1 85546958 85546958 single base substitution C A exon_variant STAD-US 1 85546958 85546958 single base substitution C A missense_variant Q36K 106C>A STAD-US 1 85546958 85546958 single base substitution C A missense_variant Q49K 145C>A STAD-US 1 85546976 85546976 single base substitution C T exon_variant STAD-US 1 85546976 85546976 single base substitution C T stop_gained R42* 124C>T STAD-US 1 85546976 85546976 single base substitution C T stop_gained R55* 163C>T STAD-US 1 85547084 85547084 insertion of <=200bp - A exon_variant STAD-US 1 85547084 85547084 insertion of <=200bp - A frameshift_variant K78K? STAD-US 1 85547084 85547084 insertion of <=200bp - A frameshift_variant K91K? STAD-US 1 85550270 85550270 single base substitution T C downstream_gene_variant STAD-US 1 85550270 85550270 single base substitution T C exon_variant STAD-US 1 85550270 85550270 single base substitution T C synonymous_variant H144H 432T>C STAD-US 1 85550330 85550330 single base substitution C T downstream_gene_variant STAD-US 1 85550330 85550330 single base substitution C T exon_variant STAD-US 1 85550330 85550330 single base substitution C T synonymous_variant G164G 492C>T STAD-US 1 85551632 85551632 single base substitution A C downstream_gene_variant STAD-US 1 85551632 85551632 single base substitution A C exon_variant STAD-US 1 85551632 85551632 single base substitution A C missense_variant N220T 659A>C STAD-US 1 85551643 85551643 single base substitution A G downstream_gene_variant STAD-US 1 85551643 85551643 single base substitution A G exon_variant STAD-US 1 85551643 85551643 single base substitution A G missense_variant K224E 670A>G STAD-US 1 85559307 85559307 single base substitution G A exon_variant STAD-US 1 85559307 85559307 single base substitution G A missense_variant V303I 907G>A STAD-US 1 85559307 85559307 single base substitution G A missense_variant V342I 1024G>A STAD-US 1 85560140 85560140 single base substitution C T 3_prime_UTR_variant STAD-US 1 85560140 85560140 single base substitution C T stop_gained R320* 958C>T STAD-US 1 85560140 85560140 single base substitution C T stop_gained R359* 1075C>T STAD-US 1 85563328 85563328 single base substitution C T 3_prime_UTR_variant STAD-US 1 85563328 85563328 single base substitution C T missense_variant A408V 1223C>T STAD-US 1 85563328 85563328 single base substitution C T missense_variant A447V 1340C>T STAD-US 1 85564286 85564286 single base substitution A G 3_prime_UTR_variant STAD-US 1 85564286 85564286 single base substitution A G missense_variant E436G 1307A>G STAD-US 1 85564286 85564286 single base substitution A G missense_variant E475G 1424A>G STAD-US 1 85583527 85583527 single base substitution C A 3_prime_UTR_variant STAD-US 1 85583527 85583527 single base substitution C A missense_variant F595L 1785C>A STAD-US 1 85583527 85583527 single base substitution C A missense_variant F634L 1902C>A STAD-US 1 85592282 85592282 single base substitution G A 3_prime_UTR_variant STAD-US 1 85592282 85592282 single base substitution G A missense_variant G16D 47G>A STAD-US 1 85592282 85592282 single base substitution G A missense_variant G695D 2084G>A STAD-US 1 85592282 85592282 single base substitution G A missense_variant G734D 2201G>A STAD-US 1 85598648 85598648 single base substitution C G 3_prime_UTR_variant STAD-US 1 85598648 85598648 single base substitution C G downstream_gene_variant STAD-US 1 85598648 85598648 single base substitution C G synonymous_variant V842V 2526C>G STAD-US 1 85598648 85598648 single base substitution C G synonymous_variant V881V 2643C>G STAD-US 1 85598680 85598680 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 1 85598680 85598680 deletion of <=200bp A - downstream_gene_variant STAD-US 1 85598680 85598680 deletion of <=200bp A - frameshift_variant *853 STAD-US 1 85598680 85598680 deletion of <=200bp A - frameshift_variant *892 THCA-SA 1 85511008 85511008 single base substitution G A intron_variant THCA-SA 1 85594466 85594466 single base substitution G A 3_prime_UTR_variant THCA-SA 1 85594466 85594466 single base substitution G A missense_variant R759H 2276G>A THCA-SA 1 85594466 85594466 single base substitution G A missense_variant R798H 2393G>A THCA-SA 1 85594466 85594466 single base substitution G A missense_variant R80H 239G>A UCEC-US 1 85484930 85484930 single base substitution T C intron_variant UCEC-US 1 85486825 85486825 single base substitution G T intron_variant UCEC-US 1 85486955 85486955 single base substitution C T intron_variant UCEC-US 1 85487847 85487847 single base substitution A G intron_variant UCEC-US 1 85491841 85491841 single base substitution G A intron_variant UCEC-US 1 85498580 85498580 single base substitution G T intron_variant UCEC-US 1 85498634 85498634 single base substitution A C intron_variant UCEC-US 1 85499896 85499896 single base substitution A C intron_variant UCEC-US 1 85506698 85506698 single base substitution T G intron_variant UCEC-US 1 85506705 85506705 single base substitution G A intron_variant UCEC-US 1 85506861 85506861 single base substitution C A intron_variant UCEC-US 1 85510837 85510837 single base substitution T G intron_variant UCEC-US 1 85510989 85510989 single base substitution G A intron_variant UCEC-US 1 85546930 85546930 single base substitution T G exon_variant UCEC-US 1 85546930 85546930 single base substitution T G missense_variant I26M 78T>G UCEC-US 1 85546930 85546930 single base substitution T G missense_variant I39M 117T>G UCEC-US 1 85547008 85547008 single base substitution T C exon_variant UCEC-US 1 85547008 85547008 single base substitution T C synonymous_variant P52P 156T>C UCEC-US 1 85547008 85547008 single base substitution T C synonymous_variant P65P 195T>C UCEC-US 1 85548022 85548022 single base substitution G T exon_variant UCEC-US 1 85548022 85548022 single base substitution G T missense_variant D109Y 325G>T UCEC-US 1 85548022 85548022 single base substitution G T missense_variant D96Y 286G>T UCEC-US 1 85548073 85548073 single base substitution G T exon_variant UCEC-US 1 85548073 85548073 single base substitution G T stop_gained E113* 337G>T UCEC-US 1 85548073 85548073 single base substitution G T stop_gained E126* 376G>T UCEC-US 1 85550265 85550265 single base substitution G T downstream_gene_variant UCEC-US 1 85550265 85550265 single base substitution G T exon_variant UCEC-US 1 85550265 85550265 single base substitution G T stop_gained E143* 427G>T UCEC-US 1 85551539 85551539 single base substitution G A downstream_gene_variant UCEC-US 1 85551539 85551539 single base substitution G A exon_variant UCEC-US 1 85551539 85551539 single base substitution G A missense_variant R189Q 566G>A UCEC-US 1 85564246 85564246 single base substitution G T 3_prime_UTR_variant UCEC-US 1 85564246 85564246 single base substitution G T stop_gained E423* 1267G>T UCEC-US 1 85564246 85564246 single base substitution G T stop_gained E462* 1384G>T UCEC-US 1 85570238 85570238 single base substitution G A 3_prime_UTR_variant UCEC-US 1 85570238 85570238 single base substitution G A missense_variant R465Q 1394G>A UCEC-US 1 85570238 85570238 single base substitution G A missense_variant R504Q 1511G>A UCEC-US 1 85570251 85570251 single base substitution C T 3_prime_UTR_variant UCEC-US 1 85570251 85570251 single base substitution C T synonymous_variant C469C 1407C>T UCEC-US 1 85570251 85570251 single base substitution C T synonymous_variant C508C 1524C>T UCEC-US 1 85573739 85573739 single base substitution G T 3_prime_UTR_variant UCEC-US 1 85573739 85573739 single base substitution G T missense_variant R487I 1460G>T UCEC-US 1 85573739 85573739 single base substitution G T missense_variant R526I 1577G>T UCEC-US 1 85587440 85587440 single base substitution G A 3_prime_UTR_variant UCEC-US 1 85587440 85587440 single base substitution G A missense_variant E603K 1807G>A UCEC-US 1 85587440 85587440 single base substitution G A missense_variant E642K 1924G>A UCEC-US 1 85587440 85587440 single base substitution G A upstream_gene_variant UCEC-US 1 85592266 85592266 single base substitution G A 3_prime_UTR_variant UCEC-US 1 85592266 85592266 single base substitution G A missense_variant G11R 31G>A UCEC-US 1 85592266 85592266 single base substitution G A missense_variant G690R 2068G>A UCEC-US 1 85592266 85592266 single base substitution G A missense_variant G729R 2185G>A UCEC-US 1 85592391 85592391 single base substitution C A 3_prime_UTR_variant UCEC-US 1 85592391 85592391 single base substitution C A synonymous_variant I52I 156C>A UCEC-US 1 85592391 85592391 single base substitution C A synonymous_variant I731I 2193C>A UCEC-US 1 85592391 85592391 single base substitution C A synonymous_variant I770I 2310C>A UCEC-US 1 85595718 85595718 single base substitution G A 3_prime_UTR_variant UCEC-US 1 85595718 85595718 single base substitution G A missense_variant E101K 301G>A UCEC-US 1 85595718 85595718 single base substitution G A missense_variant E780K 2338G>A UCEC-US 1 85595718 85595718 single base substitution G A missense_variant E819K 2455G>A UCEC-US 1 85595745 85595745 single base substitution C T 3_prime_UTR_variant UCEC-US 1 85595745 85595745 single base substitution C T missense_variant R110C 328C>T UCEC-US 1 85595745 85595745 single base substitution C T missense_variant R789C 2365C>T UCEC-US 1 85595745 85595745 single base substitution C T missense_variant R828C 2482C>T UCEC-US 1 85598628 85598628 single base substitution A G 3_prime_UTR_variant UCEC-US 1 85598628 85598628 single base substitution A G downstream_gene_variant UCEC-US 1 85598628 85598628 single base substitution A G missense_variant N836D 2506A>G UCEC-US 1 85598628 85598628 single base substitution A G missense_variant N875D 2623A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AZ-6598-01 COSM1344578 c.998G>T p.S333I Substitution - Missense 1:85093598-85093598 + TLE63 COSM4167719 c.270_271insA p.I93fs*9 Insertion - Frameshift 1:85081400-85081401 + RK059_C01 COSM3741399 c.816A>G p.Q272Q Substitution - coding silent 1:85090191-85090191 + SJHGG034_D COSM4970644 c.1981+3A>G p.? Unknown 1:85121817-85121817 + TCGA-BP-4993-01 COSM465008 c.161G>A p.C54Y Substitution - Missense 1:85081291-85081291 + TCGA-BR-4361-01 COSM4010277 c.1340C>T p.A447V Substitution - Missense 1:85097645-85097645 + TCGA-EB-A5SG-06 COSM3866168 c.1457A>G p.H486R Substitution - Missense 1:85098636-85098636 + 43T COSM110188 c.2598G>A p.L866L Substitution - coding silent 1:85132920-85132920 + SC_9047 COSM5572813 c.2152T>A p.Y718N Substitution - Missense 1:85126550-85126550 + TCGA-EA-A5O9-01 COSM4851932 c.955G>A p.D319N Substitution - Missense 1:85093555-85093555 + PD11388a COSM5779731 c.1462T>C p.L488L Substitution - coding silent 1:85098641-85098641 + TCGA-CA-6717-01 COSM1344576 c.485C>A p.S162Y Substitution - Missense 1:85084640-85084640 + TCGA-BR-7707-01 COSM4010276 c.1075C>T p.R359* Substitution - Nonsense 1:85094457-85094457 + ccRCC-94 COSM1664999 c.1219C>A p.P407T Substitution - Missense 1:85095976-85095976 + CSCC-18-T COSM4530425 c.169G>A p.D57N Substitution - Missense 1:85081299-85081299 + TCGA-B0-4710-01 COSM465009 c.168A>G p.I56M Substitution - Missense 1:85081298-85081298 + TCGA-AG-3892-01 COSM258365 c.278T>G p.I93S Substitution - Missense 1:85081408-85081408 + 2492709 COSM5716881 c.1363C>T p.L455F Substitution - Missense 1:85098542-85098542 + TCGA-LL-A441-01 COSM3805997 c.1371G>A p.P457P Substitution - coding silent 1:85098550-85098550 + TCGA-AZ-4315-01 COSM1344575 c.163C>T p.R55* Substitution - Nonsense 1:85081293-85081293 + B23 COSM1748627 c.1462T>A p.L488M Substitution - Missense 1:85098641-85098641 + SKNEP1 COSM4577610 c.1910G>T p.G637V Substitution - Missense 1:85117852-85117852 + TCGA-CJ-4901-01 COSM465010 c.1431A>G p.G477G Substitution - coding silent 1:85098610-85098610 + TCGA-D9-A6EC-06 COSM4404979 c.1926A>T p.E642D Substitution - Missense 1:85121759-85121759 + 2492703 COSM5600856 c.2241G>A p.E747E Substitution - coding silent 1:85126639-85126639 + C91 COSM4444281 c.278T>A p.I93N Substitution - Missense 1:85081408-85081408 + TCGA-25-1324-01 COSM78774 c.1374G>C p.E458D Substitution - Missense 1:85098553-85098553 + YURAY COSM5381614 c.1248C>T p.G416G Substitution - coding silent 1:85096005-85096005 + TCGA-B5-A11E-01 COSM912652 c.1524C>T p.C508C Substitution - coding silent 1:85104568-85104568 + TCGA-EX-A69M-01 COSM4829150 c.764C>T p.T255M Substitution - Missense 1:85090139-85090139 + LUAD-YINHD COSM350124 c.519A>T p.S173S Substitution - coding silent 1:85084674-85084674 + 2012-701:2012-1307-T COSM4605395 c.448T>C p.Y150H Substitution - Missense 1:85084603-85084603 + TCGA-AA-A010-01 COSM286512 c.2530G>A p.V844I Substitution - Missense 1:85130110-85130110 + TCGA-EE-A3AE-06 COSM3492986 c.1639C>T p.P547S Substitution - Missense 1:85108118-85108118 + TCGA-18-3416-01 COSM682889 c.921C>A p.L307L Substitution - coding silent 1:85093521-85093521 + TCGA-KK-A59V-01 COSM4878984 c.2016C>T p.D672D Substitution - coding silent 1:85124155-85124155 + TCGA-HF-7132-01 COSM1344575 c.163C>T p.R55* Substitution - Nonsense 1:85081293-85081293 + TCGA-A7-A13E-01 COSM3805998 c.1872C>A p.L624L Substitution - coding silent 1:85117814-85117814 + TCGA-AP-A0LM-01 COSM912651 c.1511G>A p.R504Q Substitution - Missense 1:85104555-85104555 + B23-Tumor COSM1748627 c.1462T>A p.L488M Substitution - Missense 1:85098641-85098641 + TCGA-BH-A0DX-01 COSM426763 c.1099C>A p.H367N Substitution - Missense 1:85094481-85094481 + SA106 COSM212152 c.1746G>C p.K582N Substitution - Missense 1:85110095-85110095 + CSCC-27-T COSM4474211 c.1902C>T p.F634F Substitution - coding silent 1:85117844-85117844 + S01578 COSM5670202 c.331A>C p.K111Q Substitution - Missense 1:85082345-85082345 + HT55 COSM2243897 c.240C>T p.N80N Substitution - coding silent 1:85081370-85081370 + TCGA-CD-5801-01 COSM4010270 c.145C>A p.Q49K Substitution - Missense 1:85081275-85081275 + PCSI_0208_Pa_P_526 COSM1344575 c.163C>T p.R55* Substitution - Nonsense 1:85081293-85081293 + 433 COSM4433652 c.1923C>T p.G641G Substitution - coding silent 1:85121756-85121756 + 2492700 COSM5600855 c.1624G>A p.E542K Substitution - Missense 1:85108103-85108103 + ESCC_44 COSM5629925 c.1997G>T p.S666I Substitution - Missense 1:85124136-85124136 + YUSMI COSM5381613 c.777A>G p.P259P Substitution - coding silent 1:85090152-85090152 + TCGA-66-2795-01 COSM682886 c.2204G>T p.R735L Substitution - Missense 1:85126602-85126602 + TCGA-B5-A11E-01 COSM912659 c.2482C>T p.R828C Substitution - Missense 1:85130062-85130062 + 61 COSM5735514 c.1172A>G p.Q391R Substitution - Missense 1:85094554-85094554 + 2492708 COSM5716881 c.1363C>T p.L455F Substitution - Missense 1:85098542-85098542 + RK245_C01 COSM4945315 c.346T>C p.F116L Substitution - Missense 1:85082360-85082360 + TCGA-AA-3510-01 COSM1344584 c.2199C>T p.I733I Substitution - coding silent 1:85126597-85126597 + PD11753a COSM5776490 c.1929G>C p.V643V Substitution - coding silent 1:85121762-85121762 + 61 COSM5735515 c.2392C>T p.R798C Substitution - Missense 1:85128782-85128782 + BD72T COSM5511527 c.2362C>T p.H788Y Substitution - Missense 1:85128752-85128752 + cSCCP2 COSM137316 c.1219C>T p.P407S Substitution - Missense 1:85095976-85095976 + HN_62237 COSM130203 c.1732C>A p.H578N Substitution - Missense 1:85110081-85110081 + CML048T COSM5802902 c.2120C>T p.P707L Substitution - Missense 1:85126518-85126518 + LUAD-YINHD COSM350125 c.862G>C p.E288Q Substitution - Missense 1:85093462-85093462 + 2492702 COSM5600856 c.2241G>A p.E747E Substitution - coding silent 1:85126639-85126639 + CSCC-31-T COSM4544847 c.364G>A p.E122K Substitution - Missense 1:85082378-85082378 + 19M COSM5579980 c.1621G>A p.E541K Substitution - Missense 1:85108100-85108100 + CH-60-T2 COSM5651208 c.2069C>T p.T690M Substitution - Missense 1:85124208-85124208 + PT25 COSM5904706 c.2020A>G p.T674A Substitution - Missense 1:85124159-85124159 + TCGA-AA-A00N-01 COSM278128 c.2330T>G p.F777C Substitution - Missense 1:85128720-85128720 + sysucc-1370T COSM1667672 c.2119C>T p.P707S Substitution - Missense 1:85126517-85126517 + TCGA-BS-A0UF-01 COSM912655 c.1924G>A p.E642K Substitution - Missense 1:85121757-85121757 + S0029 COSM5881802 c.2378C>T p.P793L Substitution - Missense 1:85128768-85128768 + TCGA-41-3915-01 COSM3401047 c.977A>T p.Q326L Substitution - Missense 1:85093577-85093577 + AA COSM5414735 c.1682G>T p.W561L Substitution - Missense 1:85108161-85108161 + 2011-2312:2012-361-T COSM4604759 c.2215T>C p.Y739H Substitution - Missense 1:85126613-85126613 + CCK81 COSM2243945 c.2524delA p.V844fs*15 Deletion - Frameshift 1:85130104-85130104 + TCGA-GC-A3RC-01 COSM3790297 c.2289C>G p.I763M Substitution - Missense 1:85126687-85126687 + TCGA-EI-6917-01 COSM912659 c.2482C>T p.R828C Substitution - Missense 1:85130062-85130062 + TCGA-FS-A1ZA-06 COSM3492988 c.1786G>A p.D596N Substitution - Missense 1:85110135-85110135 + TCGA-D3-A5GU-06 COSM3492987 c.1662T>A p.F554L Substitution - Missense 1:85108141-85108141 + TCGA-28-2502-01 COSM2243923 c.1351C>G p.P451A Substitution - Missense 1:85098530-85098530 + B80 COSM1748626 c.959C>T p.T320I Substitution - Missense 1:85093559-85093559 + TCGA-43-6770-01 COSM682888 c.1468G>A p.D490N Substitution - Missense 1:85098647-85098647 + TCGA-BR-6706-01 COSM4010273 c.659A>C p.N220T Substitution - Missense 1:85085949-85085949 + T3064 COSM4741031 c.2573_2574insA p.M860fs*4 Insertion - Frameshift 1:85132895-85132896 + 2492702 COSM5600855 c.1624G>A p.E542K Substitution - Missense 1:85108103-85108103 + S02287 COSM5685561 c.2011C>T p.H671Y Substitution - Missense 1:85124150-85124150 + 2492701 COSM5600856 c.2241G>A p.E747E Substitution - coding silent 1:85126639-85126639 + SA106 COSM212153 c.2209G>C p.D737H Substitution - Missense 1:85126607-85126607 + TCGA-HF-7132-01 COSM4010272 c.492C>T p.G164G Substitution - coding silent 1:85084647-85084647 + TCGA-GF-A6C9-06 COSM4903494 c.961C>T p.H321Y Substitution - Missense 1:85093561-85093561 + TCGA-BR-4184-01 COSM4010275 c.1024G>A p.V342I Substitution - Missense 1:85093624-85093624 + HN22PT COSM98285 c.390+1G>A p.? Unknown 1:85082405-85082405 + TCGA-HU-A4GQ-01 COSM4010271 c.432T>C p.H144H Substitution - coding silent 1:85084587-85084587 + C086 COSM5541720 c.293C>T p.P98L Substitution - Missense 1:85082307-85082307 + TCGA-G4-6309-01 COSM1344582 c.1952delA p.D653fs*13 Deletion - Frameshift 1:85121785-85121785 + HCC2998 COSM2243901 c.436C>A p.P146T Substitution - Missense 1:85084591-85084591 + TCGA-B5-A0JY-01 COSM912644 c.325G>T p.D109Y Substitution - Missense 1:85082339-85082339 + 2492710 COSM5716881 c.1363C>T p.L455F Substitution - Missense 1:85098542-85098542 + PD11369a COSM5789902 c.1286C>G p.A429G Substitution - Missense 1:85097591-85097591 + AB COSM5414735 c.1682G>T p.W561L Substitution - Missense 1:85108161-85108161 + SW48 COSM2243898 c.271delA p.I93fs*37 Deletion - Frameshift 1:85081401-85081401 + SW48 COSM2243916 c.1261C>T p.Q421* Substitution - Nonsense 1:85096018-85096018 + 503T COSM4386250 c.2480T>A p.I827N Substitution - Missense 1:85130060-85130060 + 8049749 COSM3386375 c.65-4C>A p.? Unknown 1:85073050-85073050 + TCGA-JW-A5VL-01 COSM4846497 c.1094G>C p.R365T Substitution - Missense 1:85094476-85094476 + TCGA-EI-6917-01 COSM912655 c.1924G>A p.E642K Substitution - Missense 1:85121757-85121757 + CSCC-52-T COSM4531792 c.1825G>A p.E609K Substitution - Missense 1:85117767-85117767 + ATL011 COSM5705574 c.2512G>T p.E838* Substitution - Nonsense 1:85130092-85130092 + TCGA-BS-A0UF-01 COSM912647 c.566G>A p.R189Q Substitution - Missense 1:85085856-85085856 + LUAD-B01811 COSM334307 c.1072G>T p.V358L Substitution - Missense 1:85094454-85094454 + CSCC-44-T COSM4532068 c.184G>C p.D62H Substitution - Missense 1:85081314-85081314 + T43 COSM5343142 c.1345C>G p.L449V Substitution - Missense 1:85097650-85097650 + S02296 COSM5689335 c.1163T>C p.I388T Substitution - Missense 1:85094545-85094545 + TCGA-AP-A056-01 COSM912646 c.427G>T p.E143* Substitution - Nonsense 1:85084582-85084582 + TCGA-AN-A046-01 COSM3805996 c.387A>C p.L129F Substitution - Missense 1:85082401-85082401 + TCGA-CA-6717-01 COSM1344587 c.2533-2A>T p.? Unknown 1:85132853-85132853 + Au2 COSM5600855 c.1624G>A p.E542K Substitution - Missense 1:85108103-85108103 + TCGA-CA-6717-01 COSM1344577 c.559C>T p.R187* Substitution - Nonsense 1:85085849-85085849 + S00501 COSM5511527 c.2362C>T p.H788Y Substitution - Missense 1:85128752-85128752 + TCGA-B5-A0JY-01 COSM912651 c.1511G>A p.R504Q Substitution - Missense 1:85104555-85104555 + B80-Tumor COSM1748626 c.959C>T p.T320I Substitution - Missense 1:85093559-85093559 + TCGA-CK-5916-01 COSM1344581 c.1538C>T p.T513I Substitution - Missense 1:85104582-85104582 + 761 COSM146104 c.1138C>A p.L380I Substitution - Missense 1:85094520-85094520 + COLO320-DM COSM2243892 c.164G>A p.R55Q Substitution - Missense 1:85081294-85081294 + HCC75 COSM1602722 c.419A>T p.E140V Substitution - Missense 1:85084574-85084574 + CSCC-27-T COSM4550856 c.511G>A p.E171K Substitution - Missense 1:85084666-85084666 + TCGA-A5-A0GP-01 COSM912642 c.117T>G p.I39M Substitution - Missense 1:85081247-85081247 + YUKAT COSM5381615 c.2184C>G p.P728P Substitution - coding silent 1:85126582-85126582 + TCGA-G4-6302-01 COSM3689868 c.30A>G p.S10S Substitution - coding silent 1:85071971-85071971 + TCGA-D3-A2JH-06 COSM912659 c.2482C>T p.R828C Substitution - Missense 1:85130062-85130062 + PDA_074 COSM1344585 c.2393G>A p.R798H Substitution - Missense 1:85128783-85128783 + ICGC_MB60 COSM2243921 c.1309A>C p.I437L Substitution - Missense 1:85097614-85097614 + TCGA-AP-A051-01 COSM912656 c.2185G>A p.G729R Substitution - Missense 1:85126583-85126583 + HCC2998 COSM1667673 c.2315C>A p.S772Y Substitution - Missense 1:85126713-85126713 + PT37 COSM5917491 c.652G>A p.D218N Substitution - Missense 1:85085942-85085942 + CSCC-54-T COSM4505962 c.706C>T p.P236S Substitution - Missense 1:85085996-85085996 + sysucc-311T COSM912659 c.2482C>T p.R828C Substitution - Missense 1:85130062-85130062 + TCGA-41-3915-01 COSM3401049 c.2121G>A p.P707P Substitution - coding silent 1:85126519-85126519 + Au2 COSM5600856 c.2241G>A p.E747E Substitution - coding silent 1:85126639-85126639 + SNU-175 COSM2243943 c.2476A>G p.K826E Substitution - Missense 1:85130056-85130056 + TCGA-CM-4743-01 COSM1344585 c.2393G>A p.R798H Substitution - Missense 1:85128783-85128783 + LP6005500-DNA_H03 COSM5032877 c.1396A>G p.I466V Substitution - Missense 1:85098575-85098575 + LUAD-RT-S01813 COSM382965 c.27A>G p.T9T Substitution - coding silent 1:85071968-85071968 + TCGA-BS-A0UV-01 COSM912653 c.1577G>T p.R526I Substitution - Missense 1:85108056-85108056 + TCGA-29-1691-01 COSM1320872 c.1195G>A p.D399N Substitution - Missense 1:85095952-85095952 + 578 COSM98301 c.245C>A p.A82D Substitution - Missense 1:85081375-85081375 + Mel18 COSM3727466 c.2674_2675insA p.*892* Substitution - coding silent 1:85132996-85132997 + PT45 COSM5927202 c.953C>T p.T318I Substitution - Missense 1:85093553-85093553 + TCGA-02-2483-01 COSM3401046 c.575T>A p.F192Y Substitution - Missense 1:85085865-85085865 + PT25 COSM5904705 c.2319T>C p.S773S Substitution - coding silent 1:85128709-85128709 + TARGET-30-PASAJU COSM1288945 c.944G>T p.G315V Substitution - Missense 1:85093544-85093544 + TCGA-25-1329-01 COSM73285 c.96G>C p.E32D Substitution - Missense 1:85073085-85073085 + TCGA-06-2559-01 COSM3401048 c.1064C>T p.S355L Substitution - Missense 1:85094446-85094446 + BZ20 COSM5758535 c.1598C>T p.P533L Substitution - Missense 1:85108077-85108077 + UPCI:SCC090 COSM2243922 c.1309A>T p.I437F Substitution - Missense 1:85097614-85097614 + HCT15 COSM4242316 c.885A>G p.E295E Substitution - coding silent 1:85093485-85093485 + SM-4AX86 COSM4412409 c.931G>A p.E311K Substitution - Missense 1:85093531-85093531 + LP2000104-DNA_A01 COSM5036878 c.408A>C p.E136D Substitution - Missense 1:85084563-85084563 + TCGA-F5-6814-01 COSM3419529 c.2506G>T p.E836* Substitution - Nonsense 1:85130086-85130086 + SNUH_G17_S1 COSM3677756 c.740+9G>A p.? Unknown 1:85086039-85086039 + NOKSI COSM3727466 c.2674_2675insA p.*892* Substitution - coding silent 1:85132996-85132997 + 93VU147T COSM3727466 c.2674_2675insA p.*892* Substitution - coding silent 1:85132996-85132997 + CSCC-10-T COSM4477100 c.2120C>G p.P707R Substitution - Missense 1:85126518-85126518 + 2492700 COSM5600856 c.2241G>A p.E747E Substitution - coding silent 1:85126639-85126639 + TCGA-AZ-4315-01 COSM912655 c.1924G>A p.E642K Substitution - Missense 1:85121757-85121757 + DLD1 COSM4242316 c.885A>G p.E295E Substitution - coding silent 1:85093485-85093485 + TCGA-06-6700-01 COSM2243944 c.2483G>A p.R828H Substitution - Missense 1:85130063-85130063 + 761-01-1TD COSM146104 c.1138C>A p.L380I Substitution - Missense 1:85094520-85094520 + HCC75T COSM1602722 c.419A>T p.E140V Substitution - Missense 1:85084574-85084574 + HCC2998 COSM1667672 c.2119C>T p.P707S Substitution - Missense 1:85126517-85126517 + CHC892T COSM4797766 c.1704G>A p.R568R Substitution - coding silent 1:85110053-85110053 + PD8964a COSM5795783 c.2554G>C p.E852Q Substitution - Missense 1:85132876-85132876 + LUAD-S01315 COSM345099 c.2260C>A p.Q754K Substitution - Missense 1:85126658-85126658 + ccRCC-94 COSM1664998 c.1217G>T p.C406F Substitution - Missense 1:85095974-85095974 + TCGA-B7-5818-01 COSM4010278 c.1424A>G p.E475G Substitution - Missense 1:85098603-85098603 + CSCC-18-T COSM2243892 c.164G>A p.R55Q Substitution - Missense 1:85081294-85081294 + BD175T COSM5507709 c.1787-1G>C p.? Unknown 1:85117728-85117728 + TCGA-B5-A11E-01 COSM912643 c.195T>C p.P65P Substitution - coding silent 1:85081325-85081325 + LUAD_E01047 COSM389977 c.57A>G p.V19V Substitution - coding silent 1:85071998-85071998 + TCGA-B5-A0K7-01 COSM912649 c.873G>T p.L291L Substitution - coding silent 1:85093473-85093473 + HT115 COSM2243910 c.661T>G p.F221V Substitution - Missense 1:85085951-85085951 + CSCC-20-T COSM4564698 c.1371_1372GG>AA p.E458K Substitution - Missense 1:85098550-85098551 + HCC2998 COSM1667672 c.2119C>T p.P707S Substitution - Missense 1:85126517-85126517 + TCGA-AP-A056-01 COSM912645 c.376G>T p.E126* Substitution - Nonsense 1:85082390-85082390 + 2492701 COSM5600855 c.1624G>A p.E542K Substitution - Missense 1:85108103-85108103 + TCGA-D1-A103-01 COSM912657 c.2310C>A p.I770I Substitution - coding silent 1:85126708-85126708 + Au3 COSM5602604 c.708C>T p.P236P Substitution - coding silent 1:85085998-85085998 + TCGA-DD-A73E-01 COSM4913089 c.1239T>A p.I413I Substitution - coding silent 1:85095996-85095996 + TCGA-FS-A1YW-06 COSM3492989 c.2494A>C p.K832Q Substitution - Missense 1:85130074-85130074 + CHC892T COSM4797766 c.1704G>A p.R568R Substitution - coding silent 1:85110053-85110053 + TCGA-HT-8011-01 COSM3966773 c.560G>A p.R187Q Substitution - Missense 1:85085850-85085850 + TCGA-AX-A0J1-01 COSM912658 c.2455G>A p.E819K Substitution - Missense 1:85130035-85130035 + TCGA-18-3410-01 COSM682887 c.1651C>G p.P551A Substitution - Missense 1:85108130-85108130 + 578 COSM98301 c.245C>A p.A82D Substitution - Missense 1:85081375-85081375 + LUAD-NYU669 COSM375515 c.510G>A p.E170E Substitution - coding silent 1:85084665-85084665 + TCGA-AX-A05Z-01 COSM912660 c.2623A>G p.N875D Substitution - Missense 1:85132945-85132945 + CSCC-40-T COSM912651 c.1511G>A p.R504Q Substitution - Missense 1:85104555-85104555 + 2296_T COSM3977932 c.157A>C p.N53H Substitution - Missense 1:85081287-85081287 + CSCC-31-T COSM4447474 c.285+3A>G p.? Unknown 1:85081418-85081418 + 587342 COSM1232625 c.2399C>T p.S800F Substitution - Missense 1:85128789-85128789 + RKO COSM2243928 c.1628G>A p.S543N Substitution - Missense 1:85108107-85108107 + CSCC-27-T COSM4539267 c.2664G>A p.M888I Substitution - Missense 1:85132986-85132986 + TCGA-A5-A0G3-01 COSM912648 c.644C>A p.A215D Substitution - Missense 1:85085934-85085934 + 1006 COSM5730687 c.1877C>T p.P626L Substitution - Missense 1:85117819-85117819 + TCGA-CD-A4MJ-01 COSM4010274 c.670A>G p.K224E Substitution - Missense 1:85085960-85085960 + 2492703 COSM5600855 c.1624G>A p.E542K Substitution - Missense 1:85108103-85108103 + TCGA-FW-A3R5-06 COSM3866169 c.1528C>T p.Q510* Substitution - Nonsense 1:85104572-85104572 + TCGA-CG-5721-01 COSM4010281 c.2643C>G p.V881V Substitution - coding silent 1:85132965-85132965 + HT115 COSM2243902 c.455A>G p.Y152C Substitution - Missense 1:85084610-85084610 + TCGA-BR-8360-01 COSM4010280 c.2201G>A p.G734D Substitution - Missense 1:85126599-85126599 + HCC2998 COSM1667673 c.2315C>A p.S772Y Substitution - Missense 1:85126713-85126713 + Mel-2 COSM3727466 c.2674_2675insA p.*892* Substitution - coding silent 1:85132996-85132997 + 2492729 COSM5729844 c.2173C>G p.L725V Substitution - Missense 1:85126571-85126571 + PT23_2 COSM5903372 c.2377C>T p.P793S Substitution - Missense 1:85128767-85128767 + LUAD-YINHD COSM350126 c.1298G>C p.R433P Substitution - Missense 1:85097603-85097603 + LUAD_E00623 COSM392758 c.961_962insA p.H321fs*13 Insertion - Frameshift 1:85093561-85093562 + HCC116T COSM1602721 c.104-10T>C p.? Unknown 1:85081224-85081224 + TCGA-AX-A05Z-01 COSM912650 c.1384G>T p.E462* Substitution - Nonsense 1:85098563-85098563 + TCGA-BR-8680-01 COSM2243937 c.1902C>A p.F634L Substitution - Missense 1:85117844-85117844 + PD4602a COSM165585 c.951G>C p.K317N Substitution - Missense 1:85093551-85093551 + Patient_5 COSM5414505 c.2493A>C p.E831D Substitution - Missense 1:85130073-85130073 + CSCC-31-T COSM4478735 c.2260C>T p.Q754* Substitution - Nonsense 1:85126658-85126658 + TCGA-D1-A16Y-01 COSM912659 c.2482C>T p.R828C Substitution - Missense 1:85130062-85130062 + T96 COSM2243904 c.525G>A p.T175T Substitution - coding silent 1:85084680-85084680 + TCGA-DU-6403-01 COSM2243893 c.164G>T p.R55L Substitution - Missense 1:85081294-85081294 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.97903;Hs.97933 1p22.3 2457527|CGAP|BC040265|C/T|coding|Arg828Cys|2638|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.2409+112A>C 1 85594594 PIA A C Missense p.I437L c.1309A>C 1 85563297 MB A C Missense p.K832Q c.2494A>C 1 85595757 CM A C Missense p.N220T c.659A>C 1 85551632 STAD A - Frameshift p.I93Lfs*37 c.277delA 1 85547084 CM A - Frameshift p.I93Lfs*37 c.277delA 1 85547084 STAD A G Synonymous p.G477G c.1431A>G 1 85564293 RCCC A G Synonymous p.V356V c.1068A>G 1 85560133 COREAD A T Missense p.Q326L c.977A>T 1 85559260 GBM A T Missense p.S286C c.856A>T 1 85555914 HNSC A T Synonymous p.A83A c.249A>T 1 85547062 LUAD CA AC IntronicBlockSubstitution . c.1049-31_1049-30delinsAC 1 85560083 CM C A Missense p.A82D c.245C>A 1 85547058 HNSC C A Missense p.H367N c.1099C>A 1 85560164 BRCA C A Missense p.H578N c.1732C>A 1 85575764 HNSC C A Missense p.H809N c.2425C>A 1 85595688 LUAD C A Missense p.L380I c.1138C>A 1 85560203 CLL C A Missense p.P612Q c.1835C>A 1 85583460 LUAD C A Missense p.Q49K c.145C>A 1 85546958 STAD C A Synonymous p.L307L c.921C>A 1 85559204 LUSC C G Missense p.I418M c.1254C>G 1 85561694 HNSC C G Missense p.P451A c.1351C>G 1 85564213 GBM C G Missense p.P551A c.1651C>G 1 85573813 LUSC C G Synonymous p.T318T c.954C>G 1 85559237 LUAD C T Missense p.P387L c.1160C>T 1 85560225 HNSC C T Missense p.P547S c.1639C>T 1 85573801 CM C T Missense p.R828C c.2482C>T 1 85595745 CM C T Missense p.R828C c.2482C>T 1 85595745 UCEC C T Missense p.S355L c.1064C>T 1 85560129 GBM C T Nonsense p.R187* c.559C>T 1 85551532 CM G A IntronicSNV . c.1982-621G>A 1 85589183 CLL G A Missense p.C54Y c.161G>A 1 85546974 RCCC G A Missense p.D490N c.1468G>A 1 85564330 LUSC G A Missense p.D596N c.1786G>A 1 85575818 CM G A Missense p.E493K c.1477G>A 1 85564339 HNSC G A Missense p.R828H c.2483G>A 1 85595746 GBM G A Nonsense p.W743* c.2228G>A 1 85592309 LUAD G A Synonymous p.P407P c.1221G>A 1 85561661 LUAD G A Synonymous p.P612P c.1836G>A 1 85583461 COREAD G A Synonymous p.P707P c.2121G>A 1 85592202 GBM G A Synonymous p.T175T c.525G>A 1 85550363 LUAD G C Missense p.D432H c.1294G>C 1 85563282 LUAD G C Missense p.D737H c.2209G>C 1 85592290 BRCA G C Missense p.E32D c.96G>C 1 85538768 OV G C Missense p.E458D c.1374G>C 1 85564236 OV G C Missense p.K317N c.951G>C 1 85559234 BRCA G C Missense p.K582N c.1746G>C 1 85575778 BRCA G C SpliceDonorSNV . c.1263+1G>C 1 85561704 LUAD G T Missense p.G315V c.944G>T 1 85559227 NB G T Missense p.R55L c.164G>T 1 85546977 LGG G T Missense p.R735L c.2204G>T 1 85592285 LUSC G T Nonsense p.E32* c.94G>T 1 85538766 CM G T Nonsense p.E63* c.187G>T 1 85547000 LUAD T A 3-UTRSNV . c.2673+126T>A 1 85598804 MM T A Missense p.F192Y c.575T>A 1 85551548 GBM T G Missense p.I39M c.117T>G 1 85546930 UCEC