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 3 169985778 169985778 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr3:169985778G>A c.440G>A c.(439-441)cGt>cAt p.R147H BLCA 3 169981184 169981184 + Missense_Mutation SNP G G C TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr3:169981184G>C c.331G>C c.(331-333)Gaa>Caa p.E111Q BLCA 3 169998123 169998123 + Nonsense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:169998123C>T c.814C>T c.(814-816)Cga>Tga p.R272* BLCA 3 169998975 169998975 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr3:169998975G>C c.904G>C c.(904-906)Gag>Cag p.E302Q BLCA 3 169999005 169999005 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr3:169999005C>T c.934C>T c.(934-936)Cat>Tat p.H312Y BLCA 3 169999030 169999030 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr3:169999030C>G c.959C>G c.(958-960)tCt>tGt p.S320C BLCA 3 169999702 169999702 + Missense_Mutation SNP G G A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr3:169999702G>A c.1013G>A c.(1012-1014)gGa>gAa p.G338E BLCA 3 170009715 170009715 + Missense_Mutation SNP G G C TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr3:170009715G>C c.1277G>C c.(1276-1278)aGa>aCa p.R426T BLCA 3 170020896 170020896 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr3:170020896C>G c.1772C>G c.(1771-1773)tCt>tGt p.S591C BRCA 3 170015134 170015134 + Missense_Mutation SNP G G C TCGA-AR-A0TU-01A-31D-A10G-09 TCGA-AR-A0TU-10A-01D-A10G-09 g.chr3:170015134G>C c.1540G>C c.(1540-1542)Gct>Cct p.A514P CESC 3 169953073 169953073 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:169953073G>C c.157G>C c.(157-159)Gag>Cag p.E53Q CESC 3 169981171 169981171 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:169981171C>G c.318C>G c.(316-318)ttC>ttG p.F106L CESC 3 169985710 169985710 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:169985710C>G c.372C>G c.(370-372)atC>atG p.I124M CESC 3 169998171 169998171 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr3:169998171G>C c.862G>C c.(862-864)Gag>Cag p.E288Q CESC 3 169998189 169998189 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr3:169998189G>A c.880G>A c.(880-882)Gag>Aag p.E294K CESC 3 170011255 170011255 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:170011255C>T c.1376C>T c.(1375-1377)tCc>tTc p.S459F CHOL 3 169999040 169999040 + Missense_Mutation SNP G G T TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr3:169999040G>T c.969G>T c.(967-969)caG>caT p.Q323H COAD 3 169940518 169940518 + Missense_Mutation SNP G G T TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr3:169940518G>T c.61G>T c.(61-63)Gac>Tac p.D21Y COAD 3 169981188 169981188 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:169981188G>A c.335G>A c.(334-336)cGt>cAt p.R112H COAD 3 169981206 169981206 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:169981206C>A c.353C>A c.(352-354)cCa>cAa p.P118Q COAD 3 169981206 169981206 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:169981206C>T c.353C>T c.(352-354)cCa>cTa p.P118L COAD 3 169981207 169981207 + Silent SNP A A G TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COAD 3 169981207 169981207 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COAD 3 169981207 169981207 + Silent SNP A A G TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COAD 3 169981207 169981207 + Silent SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COAD 3 169985771 169985771 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:169985771G>A c.433G>A c.(433-435)Gcc>Acc p.A145T COAD 3 169998014 169998014 + Splice_Site SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:169998014G>T c.e9-1 COAD 3 169998104 169998104 + Nonsense_Mutation SNP T T A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:169998104T>A c.795T>A c.(793-795)taT>taA p.Y265* COAD 3 169998124 169998124 + Missense_Mutation SNP G G C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:169998124G>C c.815G>C c.(814-816)cGa>cCa p.R272P COAD 3 169998124 169998124 + Missense_Mutation SNP G G C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:169998124G>C c.815G>C c.(814-816)cGa>cCa p.R272P COAD 3 169998141 169998141 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:169998141C>T c.832C>T c.(832-834)Cgt>Tgt p.R278C COAD 3 170009653 170009653 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:170009653G>A c.1215G>A c.(1213-1215)cgG>cgA p.R405R COAD 3 170009726 170009726 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr3:170009726T>C c.1288T>C c.(1288-1290)Tat>Cat p.Y430H COAD 3 170009727 170009727 + Missense_Mutation SNP A A G TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr3:170009727A>G c.1289A>G c.(1288-1290)tAt>tGt p.Y430C COAD 3 170011254 170011254 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:170011254T>C c.1375T>C c.(1375-1377)Tcc>Ccc p.S459P COAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COAD 3 170013720 170013720 + Missense_Mutation SNP G G A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr3:170013720G>A c.1439G>A c.(1438-1440)cGc>cAc p.R480H COAD 3 170013721 170013721 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:170013721C>T c.1440C>T c.(1438-1440)cgC>cgT p.R480R COAD 3 170013729 170013729 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:170013729G>A c.1448G>A c.(1447-1449)cGt>cAt p.R483H COADREAD 3 169940518 169940518 + Missense_Mutation SNP G G T TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr3:169940518G>T c.61G>T c.(61-63)Gac>Tac p.D21Y COADREAD 3 169981188 169981188 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:169981188G>A c.335G>A c.(334-336)cGt>cAt p.R112H COADREAD 3 169981206 169981206 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:169981206C>A c.353C>A c.(352-354)cCa>cAa p.P118Q COADREAD 3 169981206 169981206 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:169981206C>T c.353C>T c.(352-354)cCa>cTa p.P118L COADREAD 3 169981207 169981207 + Silent SNP A A G TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COADREAD 3 169981207 169981207 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COADREAD 3 169981207 169981207 + Silent SNP A A G TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COADREAD 3 169981207 169981207 + Silent SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:169981207A>G c.354A>G c.(352-354)ccA>ccG p.P118P COADREAD 3 169985771 169985771 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:169985771G>A c.433G>A c.(433-435)Gcc>Acc p.A145T COADREAD 3 169998014 169998014 + Splice_Site SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:169998014G>T c.e9-1 COADREAD 3 169998104 169998104 + Nonsense_Mutation SNP T T A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:169998104T>A c.795T>A c.(793-795)taT>taA p.Y265* COADREAD 3 169998124 169998124 + Missense_Mutation SNP G G C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:169998124G>C c.815G>C c.(814-816)cGa>cCa p.R272P COADREAD 3 169998124 169998124 + Missense_Mutation SNP G G C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:169998124G>C c.815G>C c.(814-816)cGa>cCa p.R272P COADREAD 3 169998141 169998141 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:169998141C>T c.832C>T c.(832-834)Cgt>Tgt p.R278C COADREAD 3 170009653 170009653 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:170009653G>A c.1215G>A c.(1213-1215)cgG>cgA p.R405R COADREAD 3 170009726 170009726 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr3:170009726T>C c.1288T>C c.(1288-1290)Tat>Cat p.Y430H COADREAD 3 170009727 170009727 + Missense_Mutation SNP A A G TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr3:170009727A>G c.1289A>G c.(1288-1290)tAt>tGt p.Y430C COADREAD 3 170009728 170009728 + Splice_Site SNP T T C TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr3:170009728T>C c.1290T>C c.(1288-1290)taT>taC p.Y430Y COADREAD 3 170011254 170011254 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:170011254T>C c.1375T>C c.(1375-1377)Tcc>Ccc p.S459P COADREAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COADREAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COADREAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COADREAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COADREAD 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C COADREAD 3 170013720 170013720 + Missense_Mutation SNP G G A TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr3:170013720G>A c.1439G>A c.(1438-1440)cGc>cAc p.R480H COADREAD 3 170013720 170013720 + Missense_Mutation SNP G G T TCGA-F5-6702-01A-11D-1826-10 TCGA-F5-6702-10A-01D-1826-10 g.chr3:170013720G>T c.1439G>T c.(1438-1440)cGc>cTc p.R480L COADREAD 3 170013721 170013721 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:170013721C>T c.1440C>T c.(1438-1440)cgC>cgT p.R480R COADREAD 3 170013729 170013729 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:170013729G>A c.1448G>A c.(1447-1449)cGt>cAt p.R483H ESCA 3 169988209 169988209 + Splice_Site SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr3:169988209C>T c.451C>T c.(451-453)Cgt>Tgt p.R151C GBMLGG 3 169977800 169977800 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:169977800C>A c.267C>A c.(265-267)gcC>gcA p.A89A GBMLGG 3 169998192 169998192 + Splice_Site SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr3:169998192G>A c.e9+1 GBMLGG 3 170002337 170002337 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:170002337C>A c.1156C>A c.(1156-1158)Ctg>Atg p.L386M HNSC 3 169940505 169940505 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr3:169940505C>T c.48C>T c.(46-48)ggC>ggT p.G16G HNSC 3 169977769 169977769 + Missense_Mutation SNP C C T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr3:169977769C>T c.236C>T c.(235-237)aCa>aTa p.T79I HNSC 3 170002329 170002329 + Missense_Mutation SNP A A T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr3:170002329A>T c.1148A>T c.(1147-1149)aAt>aTt p.N383I HNSC 3 170011198 170011198 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr3:170011198G>C c.1319G>C c.(1318-1320)gGa>gCa p.G440A KIPAN 3 169940502 169940503 + Frame_Shift_Del DEL AG AG - TCGA-CZ-5452-01A-01D-1501-10 TCGA-CZ-5452-11A-01D-1501-10 g.chr3:169940502_169940503delAG c.45_46delAG c.(43-48)gcaggcfs p.G18fs KIPAN 3 170013708 170013708 + Frame_Shift_Del DEL A A - TCGA-IA-A40U-01A-11D-A25F-10 TCGA-IA-A40U-10A-01D-A25F-10 g.chr3:170013708delA c.1427delA c.(1426-1428)gaafs p.E476fs KIPAN 3 170016826 170016826 + Missense_Mutation SNP C C A TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr3:170016826C>A c.1631C>A c.(1630-1632)tCt>tAt p.S544Y KIPAN 3 170020905 170020905 + Frame_Shift_Del DEL A A - TCGA-A4-A5Y0-01A-11D-A31X-10 TCGA-A4-A5Y0-11A-11D-A31X-10 g.chr3:170020905delA c.1781delA c.(1780-1782)gaafs p.E594fs KIRC 3 169940502 169940503 + Frame_Shift_Del DEL AG AG - TCGA-CZ-5452-01A-01D-1501-10 TCGA-CZ-5452-11A-01D-1501-10 g.chr3:169940502_169940503delAG c.45_46delAG c.(43-48)gcaggcfs p.G18fs KIRP 3 170013708 170013708 + Frame_Shift_Del DEL A A - TCGA-IA-A40U-01A-11D-A25F-10 TCGA-IA-A40U-10A-01D-A25F-10 g.chr3:170013708delA c.1427delA c.(1426-1428)gaafs p.E476fs KIRP 3 170016826 170016826 + Missense_Mutation SNP C C A TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr3:170016826C>A c.1631C>A c.(1630-1632)tCt>tAt p.S544Y KIRP 3 170020905 170020905 + Frame_Shift_Del DEL A A - TCGA-A4-A5Y0-01A-11D-A31X-10 TCGA-A4-A5Y0-11A-11D-A31X-10 g.chr3:170020905delA c.1781delA c.(1780-1782)gaafs p.E594fs LGG 3 169977800 169977800 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:169977800C>A c.267C>A c.(265-267)gcC>gcA p.A89A LGG 3 169998192 169998192 + Splice_Site SNP G G A TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr3:169998192G>A c.e9+1 LGG 3 170002337 170002337 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:170002337C>A c.1156C>A c.(1156-1158)Ctg>Atg p.L386M LUAD 3 169953139 169953139 + Splice_Site SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr3:169953139G>T c.223G>T c.(223-225)Gga>Tga p.G75* LUAD 3 169981184 169981184 + Nonsense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr3:169981184G>T c.331G>T c.(331-333)Gaa>Taa p.E111* LUAD 3 169985720 169985720 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr3:169985720G>T c.382G>T c.(382-384)Ggt>Tgt p.G128C LUAD 3 170002268 170002268 + Missense_Mutation SNP A A T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr3:170002268A>T c.1087A>T c.(1087-1089)Agt>Tgt p.S363C LUAD 3 170002369 170002369 + Missense_Mutation SNP C C A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr3:170002369C>A c.1188C>A c.(1186-1188)gaC>gaA p.D396E LUAD 3 170009707 170009707 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr3:170009707A>T c.1269A>T c.(1267-1269)gaA>gaT p.E423D LUAD 3 170011186 170011186 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr3:170011186G>T c.1307G>T c.(1306-1308)tGg>tTg p.W436L LUAD 3 170011269 170011269 + Missense_Mutation SNP C C A TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr3:170011269C>A c.1390C>A c.(1390-1392)Cag>Aag p.Q464K LUAD 3 170016797 170016797 + Missense_Mutation SNP G G T TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr3:170016797G>T c.1602G>T c.(1600-1602)caG>caT p.Q534H LUAD 3 170016829 170016829 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr3:170016829G>T c.1634G>T c.(1633-1635)gGg>gTg p.G545V LUAD 3 170016830 170016830 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr3:170016830G>T c.1635G>T c.(1633-1635)ggG>ggT p.G545G LUSC 3 169998110 169998110 + Missense_Mutation SNP A A T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr3:169998110A>T c.801A>T c.(799-801)aaA>aaT p.K267N LUSC 3 169998155 169998155 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr3:169998155G>C c.846G>C c.(844-846)atG>atC p.M282I LUSC 3 170002300 170002300 + Silent SNP G G A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr3:170002300G>A c.1119G>A c.(1117-1119)ggG>ggA p.G373G LUSC 3 170009717 170009717 + Missense_Mutation SNP G G A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr3:170009717G>A c.1279G>A c.(1279-1281)Gga>Aga p.G427R LUSC 3 170016837 170016837 + Missense_Mutation SNP G G T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr3:170016837G>T c.1642G>T c.(1642-1644)Ggt>Tgt p.G548C LUSC 3 170016900 170016900 + Splice_Site SNP T T G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chr3:170016900T>G c.e17+2 OV 3 170013719 170013719 + Missense_Mutation SNP C C T TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 g.chr3:170013719C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C PAAD 3 169988246 169988246 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:169988246G>A c.488G>A c.(487-489)gGa>gAa p.G163E PAAD 3 170002313 170002313 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:170002313G>A c.1132G>A c.(1132-1134)Gat>Aat p.D378N PAAD 3 170009678 170009678 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:170009678T>C c.1240T>C c.(1240-1242)Tgt>Cgt p.C414R PCPG 3 169993051 169993051 + Silent SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 g.chr3:169993051G>A c.681G>A c.(679-681)ttG>ttA p.L227L PRAD 3 169953062 169953062 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:169953062G>A c.146G>A c.(145-147)gGc>gAc p.G49D READ 3 170009728 170009728 + Splice_Site SNP T T C TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr3:170009728T>C c.1290T>C c.(1288-1290)taT>taC p.Y430Y READ 3 170013720 170013720 + Missense_Mutation SNP G G T TCGA-F5-6702-01A-11D-1826-10 TCGA-F5-6702-10A-01D-1826-10 g.chr3:170013720G>T c.1439G>T c.(1438-1440)cGc>cTc p.R480L SARC 3 169988342 169988342 + Nonsense_Mutation SNP T T A TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 g.chr3:169988342T>A c.584T>A c.(583-585)tTg>tAg p.L195* SKCM 3 169940535 169940535 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr3:169940535C>T c.78C>T c.(76-78)gtC>gtT p.V26V SKCM 3 169977775 169977775 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr3:169977775C>T c.242C>T c.(241-243)tCa>tTa p.S81L SKCM 3 169985707 169985707 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:169985707C>T c.369C>T c.(367-369)tcC>tcT p.S123S SKCM 3 169988339 169988339 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr3:169988339C>T c.581C>T c.(580-582)tCt>tTt p.S194F SKCM 3 169998140 169998140 + Silent SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:169998140T>C c.831T>C c.(829-831)gaT>gaC p.D277D SKCM 3 169999001 169999001 + Silent SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:169999001C>A c.930C>A c.(928-930)tcC>tcA p.S310S SKCM 3 169999014 169999014 + Missense_Mutation SNP C C T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr3:169999014C>T c.943C>T c.(943-945)Ctt>Ttt p.L315F SKCM 3 169999030 169999030 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:169999030C>T c.959C>T c.(958-960)tCt>tTt p.S320F SKCM 3 169999701 169999701 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr3:169999701G>A c.1012G>A c.(1012-1014)Gga>Aga p.G338R SKCM 3 169999740 169999740 + Missense_Mutation SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr3:169999740C>T c.1051C>T c.(1051-1053)Cct>Tct p.P351S SKCM 3 170009647 170009647 + Silent SNP A A G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr3:170009647A>G c.1209A>G c.(1207-1209)ggA>ggG p.G403G SKCM 3 170013699 170013699 + Splice_Site SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr3:170013699T>A c.1418T>A c.(1417-1419)gTt>gAt p.V473D SKCM 3 170020883 170020883 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:170020883C>T c.1759C>T c.(1759-1761)Cct>Tct p.P587S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 170020896 170020896 single base substitution C G exon_variant BLCA-US 3 170020896 170020896 single base substitution C G missense_variant S591C 1772C>G BOCA-FR 3 169976529 169976529 single base substitution T A intron_variant BOCA-FR 3 169998810 169998810 single base substitution G A intron_variant BOCA-FR 3 169998810 169998810 single base substitution G A upstream_gene_variant BRCA-EU 3 169935956 169935956 single base substitution G T upstream_gene_variant BRCA-EU 3 169935993 169935993 single base substitution G T upstream_gene_variant BRCA-EU 3 169936320 169936320 single base substitution C T upstream_gene_variant BRCA-EU 3 169938532 169938532 single base substitution C T upstream_gene_variant BRCA-EU 3 169938696 169938696 single base substitution G T upstream_gene_variant BRCA-EU 3 169940888 169940888 single base substitution C G intron_variant BRCA-EU 3 169941030 169941030 single base substitution A T intron_variant BRCA-EU 3 169941449 169941449 single base substitution G A intron_variant BRCA-EU 3 169941898 169941898 single base substitution C T intron_variant BRCA-EU 3 169942034 169942034 single base substitution C G intron_variant BRCA-EU 3 169942203 169942203 single base substitution C G intron_variant BRCA-EU 3 169943196 169943196 single base substitution G A intron_variant BRCA-EU 3 169943958 169943958 single base substitution C T intron_variant BRCA-EU 3 169944968 169944968 deletion of <=200bp T - intron_variant BRCA-EU 3 169945820 169945820 single base substitution G T intron_variant BRCA-EU 3 169945881 169945881 single base substitution G C intron_variant BRCA-EU 3 169947403 169947403 insertion of <=200bp - T intron_variant BRCA-EU 3 169948131 169948131 insertion of <=200bp - T intron_variant BRCA-EU 3 169948159 169948159 single base substitution C T intron_variant BRCA-EU 3 169948628 169948628 single base substitution A G intron_variant BRCA-EU 3 169949431 169949431 single base substitution T G intron_variant BRCA-EU 3 169949706 169949706 single base substitution G A intron_variant BRCA-EU 3 169950509 169950509 deletion of <=200bp T - intron_variant BRCA-EU 3 169951657 169951657 single base substitution C T intron_variant BRCA-EU 3 169951684 169951684 deletion of <=200bp T - intron_variant BRCA-EU 3 169951940 169951940 single base substitution C T intron_variant BRCA-EU 3 169954876 169954876 single base substitution G C intron_variant BRCA-EU 3 169955324 169955324 deletion of <=200bp A - intron_variant BRCA-EU 3 169955357 169955357 deletion of <=200bp T - intron_variant BRCA-EU 3 169955453 169955453 single base substitution C G intron_variant BRCA-EU 3 169955768 169955768 single base substitution T C intron_variant BRCA-EU 3 169957245 169957245 single base substitution T G intron_variant BRCA-EU 3 169957757 169957757 single base substitution G A intron_variant BRCA-EU 3 169957789 169957789 single base substitution T A intron_variant BRCA-EU 3 169959466 169959467 deletion of <=200bp AG - intron_variant BRCA-EU 3 169959619 169959619 deletion of <=200bp A - intron_variant BRCA-EU 3 169961087 169961087 single base substitution T G intron_variant BRCA-EU 3 169963534 169963534 single base substitution T C intron_variant BRCA-EU 3 169966873 169966873 single base substitution T G intron_variant BRCA-EU 3 169967242 169967242 deletion of <=200bp A - intron_variant BRCA-EU 3 169967504 169967504 single base substitution G C intron_variant BRCA-EU 3 169968230 169968230 single base substitution C T intron_variant BRCA-EU 3 169970109 169970109 single base substitution G C intron_variant BRCA-EU 3 169971362 169971362 single base substitution G C intron_variant BRCA-EU 3 169972569 169972569 single base substitution G A intron_variant BRCA-EU 3 169973890 169973890 single base substitution T C intron_variant BRCA-EU 3 169975083 169975084 deletion of <=200bp AG - intron_variant BRCA-EU 3 169975952 169975952 single base substitution C A intron_variant BRCA-EU 3 169978346 169978346 single base substitution T C intron_variant BRCA-EU 3 169978754 169978754 deletion of <=200bp T - intron_variant BRCA-EU 3 169979249 169979249 single base substitution A T intron_variant BRCA-EU 3 169979642 169979642 single base substitution C G intron_variant BRCA-EU 3 169979679 169979679 single base substitution C G intron_variant BRCA-EU 3 169980828 169980828 single base substitution G A intron_variant BRCA-EU 3 169981110 169981110 single base substitution G C intron_variant BRCA-EU 3 169981602 169981602 single base substitution A G intron_variant BRCA-EU 3 169982227 169982227 single base substitution C T intron_variant BRCA-EU 3 169982664 169982664 single base substitution C A intron_variant BRCA-EU 3 169987857 169987857 single base substitution C A intron_variant BRCA-EU 3 169988226 169988226 single base substitution C G missense_variant I156M 468C>G BRCA-EU 3 169988753 169988753 single base substitution G T intron_variant BRCA-EU 3 169988830 169988830 insertion of <=200bp - A intron_variant BRCA-EU 3 169989866 169989866 single base substitution A T intron_variant BRCA-EU 3 169990621 169990621 single base substitution C G intron_variant BRCA-EU 3 169991418 169991418 single base substitution C T intron_variant BRCA-EU 3 169992797 169992797 single base substitution C G intron_variant BRCA-EU 3 169994462 169994462 single base substitution C G intron_variant BRCA-EU 3 169994462 169994462 single base substitution C G upstream_gene_variant BRCA-EU 3 169995301 169995301 single base substitution G A intron_variant BRCA-EU 3 169995301 169995301 single base substitution G A upstream_gene_variant BRCA-EU 3 169995636 169995636 insertion of <=200bp - T intron_variant BRCA-EU 3 169995636 169995636 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 169996033 169996033 single base substitution C G intron_variant BRCA-EU 3 169996033 169996033 single base substitution C G upstream_gene_variant BRCA-EU 3 169996106 169996106 single base substitution T G intron_variant BRCA-EU 3 169996106 169996106 single base substitution T G upstream_gene_variant BRCA-EU 3 169996383 169996383 single base substitution G A intron_variant BRCA-EU 3 169996383 169996383 single base substitution G A upstream_gene_variant BRCA-EU 3 169999100 169999100 single base substitution C G downstream_gene_variant BRCA-EU 3 169999100 169999100 single base substitution C G exon_variant BRCA-EU 3 169999100 169999100 single base substitution C G intron_variant BRCA-EU 3 169999100 169999100 single base substitution C G upstream_gene_variant BRCA-EU 3 170000414 170000414 single base substitution G A downstream_gene_variant BRCA-EU 3 170000414 170000414 single base substitution G A intron_variant BRCA-EU 3 170001074 170001074 single base substitution C T downstream_gene_variant BRCA-EU 3 170001074 170001074 single base substitution C T intron_variant BRCA-EU 3 170001330 170001330 single base substitution T G downstream_gene_variant BRCA-EU 3 170001330 170001330 single base substitution T G intron_variant BRCA-EU 3 170002434 170002434 single base substitution C G downstream_gene_variant BRCA-EU 3 170002434 170002434 single base substitution C G intron_variant BRCA-EU 3 170002544 170002544 single base substitution C T downstream_gene_variant BRCA-EU 3 170002544 170002544 single base substitution C T intron_variant BRCA-EU 3 170003282 170003282 single base substitution C G downstream_gene_variant BRCA-EU 3 170003282 170003282 single base substitution C G intron_variant BRCA-EU 3 170003838 170003838 single base substitution G C downstream_gene_variant BRCA-EU 3 170003838 170003838 single base substitution G C intron_variant BRCA-EU 3 170006397 170006397 single base substitution T C downstream_gene_variant BRCA-EU 3 170006397 170006397 single base substitution T C intron_variant BRCA-EU 3 170006397 170006397 single base substitution T C upstream_gene_variant BRCA-EU 3 170006516 170006516 single base substitution G C downstream_gene_variant BRCA-EU 3 170006516 170006516 single base substitution G C intron_variant BRCA-EU 3 170006516 170006516 single base substitution G C upstream_gene_variant BRCA-EU 3 170007583 170007583 single base substitution C A intron_variant BRCA-EU 3 170007583 170007583 single base substitution C A upstream_gene_variant BRCA-EU 3 170008612 170008612 insertion of <=200bp - T intron_variant BRCA-EU 3 170008612 170008612 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 170009788 170009788 single base substitution T C intron_variant BRCA-EU 3 170009788 170009788 single base substitution T C upstream_gene_variant BRCA-EU 3 170012036 170012036 single base substitution C T intron_variant BRCA-EU 3 170012998 170012998 single base substitution C A intron_variant BRCA-EU 3 170014526 170014526 single base substitution G C intron_variant BRCA-EU 3 170017229 170017229 single base substitution G A downstream_gene_variant BRCA-EU 3 170017229 170017229 single base substitution G A intron_variant BRCA-EU 3 170018621 170018621 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 170018621 170018621 deletion of <=200bp T - intron_variant BRCA-EU 3 170018985 170018985 single base substitution T C downstream_gene_variant BRCA-EU 3 170018985 170018985 single base substitution T C intron_variant BRCA-EU 3 170019289 170019289 single base substitution T C downstream_gene_variant BRCA-EU 3 170019289 170019289 single base substitution T C intron_variant BRCA-EU 3 170019380 170019380 single base substitution C T downstream_gene_variant BRCA-EU 3 170019380 170019380 single base substitution C T intron_variant BRCA-EU 3 170019530 170019530 single base substitution C T downstream_gene_variant BRCA-EU 3 170019530 170019530 single base substitution C T intron_variant BRCA-EU 3 170022686 170022686 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 170022686 170022686 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 170022686 170022686 deletion of <=200bp T - exon_variant BRCA-EU 3 170022687 170022687 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 170022687 170022687 single base substitution T G downstream_gene_variant BRCA-EU 3 170022687 170022687 single base substitution T G exon_variant BRCA-EU 3 170023349 170023349 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 170023349 170023349 single base substitution C G downstream_gene_variant BRCA-EU 3 170023349 170023349 single base substitution C G exon_variant BRCA-EU 3 170023860 170023860 single base substitution G C downstream_gene_variant BRCA-EU 3 170024122 170024122 single base substitution A C downstream_gene_variant BRCA-EU 3 170024986 170024986 single base substitution G A downstream_gene_variant BRCA-EU 3 170026963 170026963 single base substitution G C downstream_gene_variant BRCA-EU 3 170027565 170027565 single base substitution G C downstream_gene_variant BRCA-FR 3 169953136 169953136 single base substitution G A missense_variant E74K 220G>A BRCA-FR 3 169963534 169963534 single base substitution T C intron_variant BRCA-FR 3 169974178 169974178 single base substitution C T intron_variant BRCA-FR 3 169981231 169981231 single base substitution T G intron_variant BRCA-FR 3 169982128 169982128 single base substitution C T intron_variant BRCA-FR 3 169982212 169982212 single base substitution C T intron_variant BRCA-FR 3 169984064 169984064 single base substitution C T intron_variant BRCA-FR 3 169988226 169988226 single base substitution C G missense_variant I156M 468C>G BRCA-FR 3 169989666 169989666 single base substitution G A intron_variant BRCA-FR 3 169992797 169992797 single base substitution C G intron_variant BRCA-FR 3 169996033 169996033 single base substitution C G intron_variant BRCA-FR 3 169996033 169996033 single base substitution C G upstream_gene_variant BRCA-FR 3 170003282 170003282 single base substitution C G downstream_gene_variant BRCA-FR 3 170003282 170003282 single base substitution C G intron_variant BRCA-FR 3 170014526 170014526 single base substitution G C intron_variant BRCA-FR 3 170017229 170017229 single base substitution G A downstream_gene_variant BRCA-FR 3 170017229 170017229 single base substitution G A intron_variant BRCA-UK 3 169938532 169938532 single base substitution C T upstream_gene_variant BRCA-UK 3 169943392 169943392 single base substitution C T intron_variant BRCA-UK 3 169943958 169943958 single base substitution C T intron_variant BRCA-UK 3 169947920 169947920 single base substitution C G intron_variant BRCA-UK 3 169981214 169981214 single base substitution G C missense_variant D121H 361G>C BRCA-UK 3 169981632 169981632 single base substitution C G intron_variant BRCA-UK 3 169982019 169982019 single base substitution C T intron_variant BRCA-UK 3 169982991 169982991 single base substitution G A intron_variant BRCA-UK 3 170008435 170008435 single base substitution C A intron_variant BRCA-UK 3 170008435 170008435 single base substitution C A upstream_gene_variant BRCA-UK 3 170026428 170026428 single base substitution G A downstream_gene_variant BRCA-US 3 170015134 170015134 single base substitution G C downstream_gene_variant BRCA-US 3 170015134 170015134 single base substitution G C exon_variant BRCA-US 3 170015134 170015134 single base substitution G C missense_variant A514P 1540G>C BTCA-JP 3 169985594 169985594 deletion of <=200bp T - intron_variant BTCA-JP 3 170016839 170016839 single base substitution T G downstream_gene_variant BTCA-JP 3 170016839 170016839 single base substitution T G exon_variant BTCA-JP 3 170016839 170016839 single base substitution T G synonymous_variant G548G 1644T>G CESC-US 3 169953073 169953073 single base substitution G C missense_variant E53Q 157G>C CESC-US 3 169981171 169981171 single base substitution C G missense_variant F106L 318C>G CESC-US 3 169985710 169985710 single base substitution C G missense_variant I124M 372C>G CESC-US 3 169998171 169998171 single base substitution G C exon_variant CESC-US 3 169998171 169998171 single base substitution G C missense_variant E288Q 862G>C CESC-US 3 169998171 169998171 single base substitution G C upstream_gene_variant CESC-US 3 169998189 169998189 single base substitution G A missense_variant E294K 880G>A CESC-US 3 169998189 169998189 single base substitution G A splice_region_variant CESC-US 3 169998189 169998189 single base substitution G A upstream_gene_variant CESC-US 3 170011255 170011255 single base substitution C T exon_variant CESC-US 3 170011255 170011255 single base substitution C T missense_variant S459F 1376C>T CLLE-ES 3 169966020 169966020 single base substitution A G intron_variant CLLE-ES 3 169975451 169975451 single base substitution T A intron_variant CLLE-ES 3 169989910 169989910 single base substitution A G intron_variant CLLE-ES 3 170003572 170003572 single base substitution G A downstream_gene_variant CLLE-ES 3 170003572 170003572 single base substitution G A intron_variant COAD-US 3 169940518 169940518 single base substitution G T missense_variant D21Y 61G>T COAD-US 3 169985771 169985771 single base substitution G A missense_variant A145T 433G>A COAD-US 3 169998014 169998014 single base substitution G T exon_variant COAD-US 3 169998014 169998014 single base substitution G T splice_acceptor_variant COAD-US 3 169998014 169998014 single base substitution G T upstream_gene_variant COAD-US 3 169998124 169998124 single base substitution G C exon_variant COAD-US 3 169998124 169998124 single base substitution G C missense_variant R272P 815G>C COAD-US 3 169998124 169998124 single base substitution G C upstream_gene_variant COAD-US 3 169998127 169998127 insertion of <=200bp - A exon_variant COAD-US 3 169998127 169998127 insertion of <=200bp - A frameshift_variant L273Y? COAD-US 3 169998127 169998127 insertion of <=200bp - A upstream_gene_variant COAD-US 3 170009653 170009653 single base substitution G A exon_variant COAD-US 3 170009653 170009653 single base substitution G A synonymous_variant R405R 1215G>A COAD-US 3 170009653 170009653 single base substitution G A upstream_gene_variant COAD-US 3 170011254 170011254 single base substitution T C exon_variant COAD-US 3 170011254 170011254 single base substitution T C missense_variant S459P 1375T>C COAD-US 3 170013719 170013719 single base substitution C T exon_variant COAD-US 3 170013719 170013719 single base substitution C T missense_variant R480C 1438C>T COAD-US 3 170013720 170013720 single base substitution G A exon_variant COAD-US 3 170013720 170013720 single base substitution G A missense_variant R480H 1439G>A COAD-US 3 170013729 170013729 single base substitution G A exon_variant COAD-US 3 170013729 170013729 single base substitution G A missense_variant R483H 1448G>A COCA-CN 3 169977889 169977889 single base substitution C A intron_variant COCA-CN 3 169985539 169985539 single base substitution C A intron_variant COCA-CN 3 169990984 169990984 single base substitution T G intron_variant COCA-CN 3 169997984 169997984 single base substitution A G exon_variant COCA-CN 3 169997984 169997984 single base substitution A G intron_variant COCA-CN 3 169997984 169997984 single base substitution A G upstream_gene_variant COCA-CN 3 169998230 169998230 single base substitution G T intron_variant COCA-CN 3 169998230 169998230 single base substitution G T upstream_gene_variant COCA-CN 3 169999216 169999216 single base substitution T G downstream_gene_variant COCA-CN 3 169999216 169999216 single base substitution T G exon_variant COCA-CN 3 169999216 169999216 single base substitution T G intron_variant COCA-CN 3 169999216 169999216 single base substitution T G upstream_gene_variant COCA-CN 3 170016948 170016948 single base substitution C T downstream_gene_variant COCA-CN 3 170016948 170016948 single base substitution C T intron_variant EOPC-DE 3 169946056 169946056 single base substitution A C intron_variant EOPC-DE 3 169951801 169951801 single base substitution A G intron_variant ESAD-UK 3 169935651 169935651 single base substitution A T upstream_gene_variant ESAD-UK 3 169935719 169935719 single base substitution T G upstream_gene_variant ESAD-UK 3 169937972 169937972 single base substitution G C upstream_gene_variant ESAD-UK 3 169940022 169940022 single base substitution C T upstream_gene_variant ESAD-UK 3 169941131 169941131 single base substitution C T intron_variant ESAD-UK 3 169943365 169943365 single base substitution T C intron_variant ESAD-UK 3 169944495 169944495 single base substitution T G intron_variant ESAD-UK 3 169945271 169945271 single base substitution G A intron_variant ESAD-UK 3 169946391 169946392 deletion of <=200bp AT - intron_variant ESAD-UK 3 169948268 169948268 single base substitution G A intron_variant ESAD-UK 3 169950509 169950509 deletion of <=200bp T - intron_variant ESAD-UK 3 169952353 169952353 single base substitution C G intron_variant ESAD-UK 3 169952689 169952689 deletion of <=200bp C - intron_variant ESAD-UK 3 169956346 169956346 single base substitution C T intron_variant ESAD-UK 3 169957788 169957789 deletion of <=200bp AT - intron_variant ESAD-UK 3 169958934 169958934 single base substitution G A intron_variant ESAD-UK 3 169960888 169960888 single base substitution C T intron_variant ESAD-UK 3 169963013 169963013 single base substitution A C intron_variant ESAD-UK 3 169963252 169963252 single base substitution T G intron_variant ESAD-UK 3 169963534 169963534 single base substitution T G intron_variant ESAD-UK 3 169965023 169965023 deletion of <=200bp A - intron_variant ESAD-UK 3 169965064 169965064 single base substitution G A intron_variant ESAD-UK 3 169966168 169966168 single base substitution G A intron_variant ESAD-UK 3 169966169 169966169 single base substitution A G intron_variant ESAD-UK 3 169966171 169966171 single base substitution A G intron_variant ESAD-UK 3 169968230 169968233 deletion of <=200bp CCCA - intron_variant ESAD-UK 3 169968589 169968589 single base substitution C A intron_variant ESAD-UK 3 169970020 169970020 single base substitution T C intron_variant ESAD-UK 3 169970589 169970589 single base substitution C T intron_variant ESAD-UK 3 169972742 169972742 single base substitution A G intron_variant ESAD-UK 3 169972942 169972942 single base substitution G A intron_variant ESAD-UK 3 169977334 169977334 single base substitution C T intron_variant ESAD-UK 3 169978745 169978745 single base substitution T C intron_variant ESAD-UK 3 169979664 169979664 deletion of <=200bp T - intron_variant ESAD-UK 3 169984909 169984909 insertion of <=200bp - G intron_variant ESAD-UK 3 169984981 169984981 single base substitution G A intron_variant ESAD-UK 3 169986741 169986741 single base substitution C T intron_variant ESAD-UK 3 169987510 169987510 single base substitution T C intron_variant ESAD-UK 3 169991608 169991608 insertion of <=200bp - AG intron_variant ESAD-UK 3 169994660 169994660 single base substitution C A intron_variant ESAD-UK 3 169994660 169994660 single base substitution C A upstream_gene_variant ESAD-UK 3 169995133 169995133 single base substitution T C intron_variant ESAD-UK 3 169995133 169995133 single base substitution T C upstream_gene_variant ESAD-UK 3 169995999 169995999 single base substitution G A intron_variant ESAD-UK 3 169995999 169995999 single base substitution G A upstream_gene_variant ESAD-UK 3 169998151 169998151 single base substitution C T exon_variant ESAD-UK 3 169998151 169998151 single base substitution C T missense_variant A281V 842C>T ESAD-UK 3 169998151 169998151 single base substitution C T upstream_gene_variant ESAD-UK 3 169998287 169998287 single base substitution G C intron_variant ESAD-UK 3 169998287 169998287 single base substitution G C upstream_gene_variant ESAD-UK 3 169998687 169998687 deletion of <=200bp T - intron_variant ESAD-UK 3 169998687 169998687 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 169998730 169998730 insertion of <=200bp - A intron_variant ESAD-UK 3 169998730 169998730 insertion of <=200bp - A upstream_gene_variant ESAD-UK 3 170001272 170001272 single base substitution C G downstream_gene_variant ESAD-UK 3 170001272 170001272 single base substitution C G intron_variant ESAD-UK 3 170001451 170001451 single base substitution G T downstream_gene_variant ESAD-UK 3 170001451 170001451 single base substitution G T intron_variant ESAD-UK 3 170003146 170003146 single base substitution C T downstream_gene_variant ESAD-UK 3 170003146 170003146 single base substitution C T intron_variant ESAD-UK 3 170004069 170004069 single base substitution G A downstream_gene_variant ESAD-UK 3 170004069 170004069 single base substitution G A intron_variant ESAD-UK 3 170005124 170005124 single base substitution T G downstream_gene_variant ESAD-UK 3 170005124 170005124 single base substitution T G intron_variant ESAD-UK 3 170005124 170005124 single base substitution T G upstream_gene_variant ESAD-UK 3 170005130 170005130 single base substitution G T downstream_gene_variant ESAD-UK 3 170005130 170005130 single base substitution G T intron_variant ESAD-UK 3 170005130 170005130 single base substitution G T upstream_gene_variant ESAD-UK 3 170012105 170012105 single base substitution C G intron_variant ESAD-UK 3 170013720 170013720 single base substitution G A exon_variant ESAD-UK 3 170013720 170013720 single base substitution G A missense_variant R480H 1439G>A ESAD-UK 3 170014943 170014943 single base substitution C A intron_variant ESAD-UK 3 170016891 170016891 single base substitution G A downstream_gene_variant ESAD-UK 3 170016891 170016891 single base substitution G A exon_variant ESAD-UK 3 170016891 170016891 single base substitution G A missense_variant D566N 1696G>A ESAD-UK 3 170017012 170017012 single base substitution T G downstream_gene_variant ESAD-UK 3 170017012 170017012 single base substitution T G intron_variant ESAD-UK 3 170020901 170020901 single base substitution G A exon_variant ESAD-UK 3 170020901 170020901 single base substitution G A missense_variant E593K 1777G>A ESAD-UK 3 170021765 170021765 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 170021765 170021765 single base substitution C T downstream_gene_variant ESAD-UK 3 170021765 170021765 single base substitution C T exon_variant ESAD-UK 3 170023997 170023997 single base substitution G C downstream_gene_variant ESAD-UK 3 170024222 170024222 single base substitution T G downstream_gene_variant ESAD-UK 3 170025923 170025923 single base substitution C T downstream_gene_variant ESAD-UK 3 170028031 170028031 single base substitution G T downstream_gene_variant ESCA-CN 3 169993064 169993064 single base substitution G A missense_variant E232K 694G>A ESCA-CN 3 169993064 169993064 single base substitution G A upstream_gene_variant ESCA-CN 3 169998158 169998158 single base substitution A T exon_variant ESCA-CN 3 169998158 169998158 single base substitution A T missense_variant K283N 849A>T ESCA-CN 3 169998158 169998158 single base substitution A T upstream_gene_variant ESCA-CN 3 170016852 170016852 single base substitution G A downstream_gene_variant ESCA-CN 3 170016852 170016852 single base substitution G A exon_variant ESCA-CN 3 170016852 170016852 single base substitution G A missense_variant D553N 1657G>A KIRC-US 3 169940502 169940503 deletion of <=200bp AG - frameshift_variant AG15 KIRP-US 3 169940480 169940480 single base substitution G A missense_variant S8N 23G>A KIRP-US 3 170002334 170002334 single base substitution T C downstream_gene_variant KIRP-US 3 170002334 170002334 single base substitution T C exon_variant KIRP-US 3 170002334 170002334 single base substitution T C synonymous_variant L385L 1153T>C KIRP-US 3 170013708 170013708 deletion of <=200bp A - exon_variant KIRP-US 3 170013708 170013708 deletion of <=200bp A - frameshift_variant E476 KIRP-US 3 170020905 170020905 deletion of <=200bp A - exon_variant KIRP-US 3 170020905 170020905 deletion of <=200bp A - frameshift_variant E594 LAML-KR 3 169948766 169948766 single base substitution G T intron_variant LAML-KR 3 169971557 169971557 single base substitution C T intron_variant LAML-KR 3 170009601 170009601 single base substitution C T exon_variant LAML-KR 3 170009601 170009601 single base substitution C T intron_variant LAML-KR 3 170009601 170009601 single base substitution C T upstream_gene_variant LAML-KR 3 170024970 170024970 single base substitution A T downstream_gene_variant LAML-KR 3 170025153 170025153 single base substitution G A downstream_gene_variant LAML-KR 3 170025156 170025156 single base substitution C A downstream_gene_variant LAML-KR 3 170025166 170025166 single base substitution T G downstream_gene_variant LICA-FR 3 169949071 169949071 single base substitution A T intron_variant LICA-FR 3 169956332 169956332 insertion of <=200bp - TATTTCTAGTTTT intron_variant LICA-FR 3 169966282 169966282 single base substitution G A intron_variant LICA-FR 3 169971291 169971291 single base substitution G T intron_variant LICA-FR 3 169993723 169993723 deletion of <=200bp T - intron_variant LICA-FR 3 169993723 169993723 deletion of <=200bp T - upstream_gene_variant LICA-FR 3 170002341 170002341 single base substitution A G downstream_gene_variant LICA-FR 3 170002341 170002341 single base substitution A G exon_variant LICA-FR 3 170002341 170002341 single base substitution A G missense_variant D387G 1160A>G LICA-FR 3 170005727 170005727 single base substitution C A downstream_gene_variant LICA-FR 3 170005727 170005727 single base substitution C A intron_variant LICA-FR 3 170005727 170005727 single base substitution C A upstream_gene_variant LINC-JP 3 169946404 169946404 single base substitution T C intron_variant LINC-JP 3 169946520 169946520 single base substitution A G intron_variant LINC-JP 3 169952852 169952852 single base substitution G A intron_variant LINC-JP 3 169954404 169954404 single base substitution A T intron_variant LINC-JP 3 169955016 169955016 single base substitution A G intron_variant LINC-JP 3 169973407 169973407 single base substitution C T intron_variant LINC-JP 3 169978082 169978082 single base substitution T A intron_variant LINC-JP 3 169981953 169981953 deletion of <=200bp T - intron_variant LINC-JP 3 169988951 169988951 single base substitution A T intron_variant LINC-JP 3 169993144 169993144 single base substitution T C intron_variant LINC-JP 3 169993144 169993144 single base substitution T C upstream_gene_variant LINC-JP 3 169994052 169994052 single base substitution A G intron_variant LINC-JP 3 169994052 169994052 single base substitution A G upstream_gene_variant LINC-JP 3 169999047 169999047 single base substitution A G downstream_gene_variant LINC-JP 3 169999047 169999047 single base substitution A G exon_variant LINC-JP 3 169999047 169999047 single base substitution A G missense_variant S326G 976A>G LINC-JP 3 169999047 169999047 single base substitution A G upstream_gene_variant LINC-JP 3 169999553 169999553 single base substitution C T downstream_gene_variant LINC-JP 3 169999553 169999553 single base substitution C T exon_variant LINC-JP 3 169999553 169999553 single base substitution C T intron_variant LINC-JP 3 170002387 170002387 single base substitution G T downstream_gene_variant LINC-JP 3 170002387 170002387 single base substitution G T splice_region_variant LINC-JP 3 170019310 170019310 single base substitution A T downstream_gene_variant LINC-JP 3 170019310 170019310 single base substitution A T intron_variant LINC-JP 3 170023715 170023715 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 3 170023715 170023715 deletion of <=200bp T - downstream_gene_variant LINC-JP 3 170023715 170023715 deletion of <=200bp T - exon_variant LIRI-JP 3 169935738 169935738 single base substitution G A upstream_gene_variant LIRI-JP 3 169935877 169935877 single base substitution T C upstream_gene_variant LIRI-JP 3 169936985 169936985 single base substitution T C upstream_gene_variant LIRI-JP 3 169937473 169937473 single base substitution A T upstream_gene_variant LIRI-JP 3 169937494 169937494 single base substitution T C upstream_gene_variant LIRI-JP 3 169939537 169939537 single base substitution T C upstream_gene_variant LIRI-JP 3 169939706 169939706 single base substitution T C upstream_gene_variant LIRI-JP 3 169941265 169941265 single base substitution C G intron_variant LIRI-JP 3 169941760 169941760 single base substitution T C intron_variant LIRI-JP 3 169945802 169945802 single base substitution C T intron_variant LIRI-JP 3 169947237 169947237 single base substitution G A intron_variant LIRI-JP 3 169948802 169948802 single base substitution C T intron_variant LIRI-JP 3 169950329 169950329 single base substitution A G intron_variant LIRI-JP 3 169950755 169950755 single base substitution A G intron_variant LIRI-JP 3 169952649 169952649 single base substitution G C intron_variant LIRI-JP 3 169953197 169953197 single base substitution T C intron_variant LIRI-JP 3 169953346 169953346 single base substitution T C intron_variant LIRI-JP 3 169954382 169954382 single base substitution G T intron_variant LIRI-JP 3 169955366 169955366 single base substitution A T intron_variant LIRI-JP 3 169956640 169956640 single base substitution A C intron_variant LIRI-JP 3 169957991 169957991 single base substitution A G intron_variant LIRI-JP 3 169960281 169960281 single base substitution G T intron_variant LIRI-JP 3 169961091 169961091 single base substitution A G intron_variant LIRI-JP 3 169965172 169965172 single base substitution A G intron_variant LIRI-JP 3 169970446 169970446 single base substitution G A intron_variant LIRI-JP 3 169970542 169970542 single base substitution C A intron_variant LIRI-JP 3 169973543 169973543 single base substitution A C intron_variant LIRI-JP 3 169974679 169974679 single base substitution A G intron_variant LIRI-JP 3 169976237 169976237 single base substitution G A intron_variant LIRI-JP 3 169976350 169976350 single base substitution A G intron_variant LIRI-JP 3 169976684 169976684 insertion of <=200bp - AGT intron_variant LIRI-JP 3 169977110 169977110 single base substitution G T intron_variant LIRI-JP 3 169980109 169980109 single base substitution A C intron_variant LIRI-JP 3 169982409 169982409 single base substitution A G intron_variant LIRI-JP 3 169983140 169983140 single base substitution G A intron_variant LIRI-JP 3 169983359 169983359 single base substitution G T intron_variant LIRI-JP 3 169985555 169985555 single base substitution A T intron_variant LIRI-JP 3 169986620 169986620 single base substitution A G intron_variant LIRI-JP 3 169986664 169986664 single base substitution G C intron_variant LIRI-JP 3 169986819 169986819 single base substitution C T intron_variant LIRI-JP 3 169986939 169986939 single base substitution G A intron_variant LIRI-JP 3 169988576 169988576 single base substitution G C intron_variant LIRI-JP 3 169988666 169988666 single base substitution T G intron_variant LIRI-JP 3 169988857 169988857 single base substitution A G intron_variant LIRI-JP 3 169990759 169990759 single base substitution G C intron_variant LIRI-JP 3 169991156 169991156 single base substitution G A intron_variant LIRI-JP 3 169991192 169991192 single base substitution G T intron_variant LIRI-JP 3 169991453 169991453 single base substitution A G intron_variant LIRI-JP 3 169992578 169992578 single base substitution G C intron_variant LIRI-JP 3 169993466 169993466 single base substitution T C intron_variant LIRI-JP 3 169993466 169993466 single base substitution T C upstream_gene_variant LIRI-JP 3 169994328 169994328 single base substitution T G intron_variant LIRI-JP 3 169994328 169994328 single base substitution T G upstream_gene_variant LIRI-JP 3 169996124 169996124 single base substitution G T intron_variant LIRI-JP 3 169996124 169996124 single base substitution G T upstream_gene_variant LIRI-JP 3 169996341 169996341 single base substitution G A intron_variant LIRI-JP 3 169996341 169996341 single base substitution G A upstream_gene_variant LIRI-JP 3 169996533 169996533 single base substitution T G intron_variant LIRI-JP 3 169996533 169996533 single base substitution T G upstream_gene_variant LIRI-JP 3 169998964 169998964 single base substitution G A exon_variant LIRI-JP 3 169998964 169998964 single base substitution G A stop_gained W298* 893G>A LIRI-JP 3 169998964 169998964 single base substitution G A upstream_gene_variant LIRI-JP 3 169999276 169999276 single base substitution G A downstream_gene_variant LIRI-JP 3 169999276 169999276 single base substitution G A exon_variant LIRI-JP 3 169999276 169999276 single base substitution G A intron_variant LIRI-JP 3 169999276 169999276 single base substitution G A upstream_gene_variant LIRI-JP 3 169999494 169999494 single base substitution G T downstream_gene_variant LIRI-JP 3 169999494 169999494 single base substitution G T exon_variant LIRI-JP 3 169999494 169999494 single base substitution G T intron_variant LIRI-JP 3 170002281 170002281 single base substitution A G downstream_gene_variant LIRI-JP 3 170002281 170002281 single base substitution A G exon_variant LIRI-JP 3 170002281 170002281 single base substitution A G missense_variant N367S 1100A>G LIRI-JP 3 170005893 170005893 single base substitution G A downstream_gene_variant LIRI-JP 3 170005893 170005893 single base substitution G A intron_variant LIRI-JP 3 170005893 170005893 single base substitution G A upstream_gene_variant LIRI-JP 3 170005978 170005978 single base substitution G A downstream_gene_variant LIRI-JP 3 170005978 170005978 single base substitution G A intron_variant LIRI-JP 3 170005978 170005978 single base substitution G A upstream_gene_variant LIRI-JP 3 170006555 170006555 single base substitution C T downstream_gene_variant LIRI-JP 3 170006555 170006555 single base substitution C T intron_variant LIRI-JP 3 170006555 170006555 single base substitution C T upstream_gene_variant LIRI-JP 3 170007009 170007009 single base substitution G A downstream_gene_variant LIRI-JP 3 170007009 170007009 single base substitution G A intron_variant LIRI-JP 3 170007009 170007009 single base substitution G A upstream_gene_variant LIRI-JP 3 170008000 170008000 single base substitution G T intron_variant LIRI-JP 3 170008000 170008000 single base substitution G T upstream_gene_variant LIRI-JP 3 170010127 170010127 single base substitution A G intron_variant LIRI-JP 3 170010127 170010127 single base substitution A G upstream_gene_variant LIRI-JP 3 170012854 170012854 single base substitution G A intron_variant LIRI-JP 3 170015199 170015199 single base substitution A G downstream_gene_variant LIRI-JP 3 170015199 170015199 single base substitution A G intron_variant LIRI-JP 3 170015245 170015245 single base substitution T C downstream_gene_variant LIRI-JP 3 170015245 170015245 single base substitution T C intron_variant LIRI-JP 3 170018012 170018012 single base substitution G T downstream_gene_variant LIRI-JP 3 170018012 170018012 single base substitution G T intron_variant LIRI-JP 3 170018206 170018206 single base substitution C T downstream_gene_variant LIRI-JP 3 170018206 170018206 single base substitution C T intron_variant LIRI-JP 3 170019965 170019965 single base substitution A G downstream_gene_variant LIRI-JP 3 170019965 170019965 single base substitution A G intron_variant LIRI-JP 3 170021735 170021735 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 170021735 170021735 single base substitution A C downstream_gene_variant LIRI-JP 3 170021735 170021735 single base substitution A C exon_variant LIRI-JP 3 170021747 170021747 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 170021747 170021747 single base substitution G A downstream_gene_variant LIRI-JP 3 170021747 170021747 single base substitution G A exon_variant LIRI-JP 3 170025751 170025751 single base substitution A G downstream_gene_variant LIRI-JP 3 170027002 170027002 single base substitution C T downstream_gene_variant LUSC-KR 3 169935297 169935297 single base substitution G T upstream_gene_variant LUSC-KR 3 169936947 169936947 single base substitution T C upstream_gene_variant LUSC-KR 3 169937212 169937212 single base substitution G A upstream_gene_variant LUSC-KR 3 169939443 169939443 single base substitution C G upstream_gene_variant LUSC-KR 3 169940499 169940499 single base substitution C G synonymous_variant V14V 42C>G LUSC-KR 3 169949369 169949369 single base substitution C T intron_variant LUSC-KR 3 169950205 169950205 single base substitution G T intron_variant LUSC-KR 3 169951398 169951398 single base substitution G A intron_variant LUSC-KR 3 169952454 169952454 single base substitution G T intron_variant LUSC-KR 3 169952793 169952793 single base substitution C T intron_variant LUSC-KR 3 169952893 169952893 single base substitution A G intron_variant LUSC-KR 3 169953135 169953135 single base substitution G A synonymous_variant E73E 219G>A LUSC-KR 3 169953201 169953201 single base substitution G C intron_variant LUSC-KR 3 169953470 169953470 single base substitution C T intron_variant LUSC-KR 3 169953774 169953774 single base substitution A G intron_variant LUSC-KR 3 169953842 169953842 single base substitution G T intron_variant LUSC-KR 3 169955112 169955112 single base substitution C T intron_variant LUSC-KR 3 169965567 169965567 single base substitution C T intron_variant LUSC-KR 3 169966037 169966037 single base substitution C T intron_variant LUSC-KR 3 169969833 169969833 single base substitution C G intron_variant LUSC-KR 3 169971471 169971471 single base substitution C G intron_variant LUSC-KR 3 169973179 169973179 single base substitution C A intron_variant LUSC-KR 3 169975327 169975327 single base substitution A C intron_variant LUSC-KR 3 169975952 169975952 single base substitution C G intron_variant LUSC-KR 3 169976932 169976932 single base substitution C G intron_variant LUSC-KR 3 169978559 169978559 single base substitution G T intron_variant LUSC-KR 3 169981058 169981058 single base substitution G A intron_variant LUSC-KR 3 169981145 169981145 single base substitution A G intron_variant LUSC-KR 3 169981370 169981370 single base substitution G A intron_variant LUSC-KR 3 169984158 169984158 single base substitution C T intron_variant LUSC-KR 3 169985953 169985953 single base substitution T C intron_variant LUSC-KR 3 169988154 169988154 single base substitution G A intron_variant LUSC-KR 3 169988314 169988314 single base substitution G A missense_variant V186I 556G>A LUSC-KR 3 169988402 169988402 single base substitution C T intron_variant LUSC-KR 3 169989263 169989263 single base substitution A G intron_variant LUSC-KR 3 169989316 169989316 single base substitution G A intron_variant LUSC-KR 3 169989576 169989576 single base substitution A T intron_variant LUSC-KR 3 169991161 169991161 single base substitution T C intron_variant LUSC-KR 3 169991224 169991224 single base substitution C T intron_variant LUSC-KR 3 169991367 169991367 single base substitution C T intron_variant LUSC-KR 3 169993258 169993258 single base substitution T C intron_variant LUSC-KR 3 169993258 169993258 single base substitution T C upstream_gene_variant LUSC-KR 3 169994050 169994050 single base substitution G T intron_variant LUSC-KR 3 169994050 169994050 single base substitution G T upstream_gene_variant LUSC-KR 3 169995014 169995014 single base substitution G T intron_variant LUSC-KR 3 169995014 169995014 single base substitution G T upstream_gene_variant LUSC-KR 3 169995745 169995745 single base substitution A T intron_variant LUSC-KR 3 169995745 169995745 single base substitution A T upstream_gene_variant LUSC-KR 3 169995932 169995932 single base substitution C G intron_variant LUSC-KR 3 169995932 169995932 single base substitution C G upstream_gene_variant LUSC-KR 3 169998729 169998729 single base substitution G T intron_variant LUSC-KR 3 169998729 169998729 single base substitution G T upstream_gene_variant LUSC-KR 3 169999670 169999670 single base substitution A G downstream_gene_variant LUSC-KR 3 169999670 169999670 single base substitution A G exon_variant LUSC-KR 3 169999670 169999670 single base substitution A G splice_region_variant LUSC-KR 3 170004773 170004773 single base substitution G T downstream_gene_variant LUSC-KR 3 170004773 170004773 single base substitution G T intron_variant LUSC-KR 3 170004773 170004773 single base substitution G T upstream_gene_variant LUSC-KR 3 170005757 170005757 single base substitution G T downstream_gene_variant LUSC-KR 3 170005757 170005757 single base substitution G T intron_variant LUSC-KR 3 170005757 170005757 single base substitution G T upstream_gene_variant LUSC-KR 3 170005758 170005758 single base substitution G T downstream_gene_variant LUSC-KR 3 170005758 170005758 single base substitution G T intron_variant LUSC-KR 3 170005758 170005758 single base substitution G T upstream_gene_variant LUSC-KR 3 170008851 170008851 single base substitution G A intron_variant LUSC-KR 3 170008851 170008851 single base substitution G A upstream_gene_variant LUSC-KR 3 170008903 170008903 single base substitution A T intron_variant LUSC-KR 3 170008903 170008903 single base substitution A T upstream_gene_variant LUSC-KR 3 170009601 170009601 single base substitution C T exon_variant LUSC-KR 3 170009601 170009601 single base substitution C T intron_variant LUSC-KR 3 170009601 170009601 single base substitution C T upstream_gene_variant LUSC-KR 3 170010251 170010251 single base substitution G C intron_variant LUSC-KR 3 170010251 170010251 single base substitution G C upstream_gene_variant LUSC-KR 3 170010454 170010454 single base substitution T C intron_variant LUSC-KR 3 170010454 170010454 single base substitution T C upstream_gene_variant LUSC-KR 3 170011279 170011279 single base substitution A G exon_variant LUSC-KR 3 170011279 170011279 single base substitution A G missense_variant E467G 1400A>G LUSC-KR 3 170011459 170011459 single base substitution G C intron_variant LUSC-KR 3 170013738 170013738 single base substitution C T exon_variant LUSC-KR 3 170013738 170013738 single base substitution C T missense_variant S486F 1457C>T LUSC-KR 3 170014092 170014092 single base substitution A G intron_variant LUSC-KR 3 170017476 170017476 single base substitution G A downstream_gene_variant LUSC-KR 3 170017476 170017476 single base substitution G A intron_variant LUSC-KR 3 170020459 170020459 single base substitution C A intron_variant LUSC-KR 3 170021160 170021160 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 170021160 170021160 single base substitution G A downstream_gene_variant LUSC-KR 3 170021160 170021160 single base substitution G A exon_variant LUSC-KR 3 170021699 170021699 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 170021699 170021699 single base substitution C T downstream_gene_variant LUSC-KR 3 170021699 170021699 single base substitution C T exon_variant LUSC-KR 3 170021944 170021944 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 170021944 170021944 single base substitution A G downstream_gene_variant LUSC-KR 3 170021944 170021944 single base substitution A G exon_variant LUSC-KR 3 170022222 170022222 single base substitution G T 3_prime_UTR_variant LUSC-KR 3 170022222 170022222 single base substitution G T downstream_gene_variant LUSC-KR 3 170022222 170022222 single base substitution G T exon_variant LUSC-KR 3 170022310 170022310 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 170022310 170022310 single base substitution C T downstream_gene_variant LUSC-KR 3 170022310 170022310 single base substitution C T exon_variant LUSC-KR 3 170023571 170023571 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 170023571 170023571 single base substitution G A downstream_gene_variant LUSC-KR 3 170023571 170023571 single base substitution G A exon_variant LUSC-US 3 169998110 169998110 single base substitution A T exon_variant LUSC-US 3 169998110 169998110 single base substitution A T missense_variant K267N 801A>T LUSC-US 3 169998110 169998110 single base substitution A T upstream_gene_variant LUSC-US 3 169998155 169998155 single base substitution G C exon_variant LUSC-US 3 169998155 169998155 single base substitution G C missense_variant M282I 846G>C LUSC-US 3 169998155 169998155 single base substitution G C upstream_gene_variant LUSC-US 3 170002300 170002300 single base substitution G A downstream_gene_variant LUSC-US 3 170002300 170002300 single base substitution G A exon_variant LUSC-US 3 170002300 170002300 single base substitution G A synonymous_variant G373G 1119G>A LUSC-US 3 170009717 170009717 single base substitution G A exon_variant LUSC-US 3 170009717 170009717 single base substitution G A missense_variant G427R 1279G>A LUSC-US 3 170009717 170009717 single base substitution G A upstream_gene_variant LUSC-US 3 170016837 170016837 single base substitution G T downstream_gene_variant LUSC-US 3 170016837 170016837 single base substitution G T exon_variant LUSC-US 3 170016837 170016837 single base substitution G T missense_variant G548C 1642G>T LUSC-US 3 170016900 170016900 single base substitution T G downstream_gene_variant LUSC-US 3 170016900 170016900 single base substitution T G splice_donor_variant MALY-DE 3 169957340 169957340 single base substitution C G intron_variant MALY-DE 3 169961789 169961789 single base substitution A G intron_variant MALY-DE 3 169965703 169965703 single base substitution A G intron_variant MALY-DE 3 169979208 169979208 single base substitution T A intron_variant MALY-DE 3 169981592 169981592 single base substitution A G intron_variant MALY-DE 3 169988161 169988161 single base substitution G T intron_variant MALY-DE 3 169989535 169989535 single base substitution T G intron_variant MALY-DE 3 169990782 169990782 single base substitution A T intron_variant MALY-DE 3 169991722 169991722 single base substitution C T intron_variant MALY-DE 3 169991815 169991815 single base substitution A T intron_variant MALY-DE 3 170005128 170005128 single base substitution G T downstream_gene_variant MALY-DE 3 170005128 170005128 single base substitution G T intron_variant MALY-DE 3 170005128 170005128 single base substitution G T upstream_gene_variant MALY-DE 3 170009667 170009667 single base substitution C T exon_variant MALY-DE 3 170009667 170009667 single base substitution C T missense_variant T410I 1229C>T MALY-DE 3 170009667 170009667 single base substitution C T upstream_gene_variant MALY-DE 3 170022925 170022925 single base substitution A G 3_prime_UTR_variant MALY-DE 3 170022925 170022925 single base substitution A G downstream_gene_variant MALY-DE 3 170022925 170022925 single base substitution A G exon_variant MALY-DE 3 170026971 170026971 single base substitution T G downstream_gene_variant MALY-DE 3 170028639 170028639 single base substitution G T downstream_gene_variant MELA-AU 3 169935227 169935227 single base substitution G A upstream_gene_variant MELA-AU 3 169935262 169935262 single base substitution C T upstream_gene_variant MELA-AU 3 169935384 169935384 single base substitution G A upstream_gene_variant MELA-AU 3 169935389 169935389 single base substitution C T upstream_gene_variant MELA-AU 3 169935504 169935504 single base substitution C T upstream_gene_variant MELA-AU 3 169935565 169935565 single base substitution G A upstream_gene_variant MELA-AU 3 169935869 169935869 single base substitution G A upstream_gene_variant MELA-AU 3 169935933 169935933 single base substitution A G upstream_gene_variant MELA-AU 3 169936010 169936010 single base substitution C T upstream_gene_variant MELA-AU 3 169936288 169936288 single base substitution C T upstream_gene_variant MELA-AU 3 169936477 169936477 single base substitution G A upstream_gene_variant MELA-AU 3 169936685 169936685 single base substitution C T upstream_gene_variant MELA-AU 3 169936697 169936697 single base substitution C T upstream_gene_variant MELA-AU 3 169936733 169936733 single base substitution C T upstream_gene_variant MELA-AU 3 169936815 169936815 single base substitution C T upstream_gene_variant MELA-AU 3 169936852 169936852 single base substitution A C upstream_gene_variant MELA-AU 3 169936978 169936978 single base substitution A T upstream_gene_variant MELA-AU 3 169937127 169937127 single base substitution G A upstream_gene_variant MELA-AU 3 169937213 169937213 single base substitution G A upstream_gene_variant MELA-AU 3 169937384 169937384 single base substitution G A upstream_gene_variant MELA-AU 3 169937581 169937581 single base substitution G A upstream_gene_variant MELA-AU 3 169937920 169937920 single base substitution G A upstream_gene_variant MELA-AU 3 169938013 169938013 single base substitution C T upstream_gene_variant MELA-AU 3 169938381 169938381 single base substitution G A upstream_gene_variant MELA-AU 3 169938736 169938736 single base substitution G A upstream_gene_variant MELA-AU 3 169939489 169939489 single base substitution G A upstream_gene_variant MELA-AU 3 169939813 169939813 single base substitution C T upstream_gene_variant MELA-AU 3 169940032 169940032 single base substitution G A upstream_gene_variant MELA-AU 3 169940091 169940091 single base substitution C T upstream_gene_variant MELA-AU 3 169940753 169940754 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 169942296 169942296 single base substitution T C intron_variant MELA-AU 3 169942676 169942676 single base substitution G T intron_variant MELA-AU 3 169942693 169942693 single base substitution T A intron_variant MELA-AU 3 169942698 169942698 single base substitution C T intron_variant MELA-AU 3 169943062 169943062 single base substitution C T intron_variant MELA-AU 3 169943239 169943239 single base substitution C T intron_variant MELA-AU 3 169943271 169943271 deletion of <=200bp C - intron_variant MELA-AU 3 169943334 169943334 single base substitution C T intron_variant MELA-AU 3 169943521 169943521 single base substitution C T intron_variant MELA-AU 3 169943525 169943525 single base substitution C T intron_variant MELA-AU 3 169943576 169943576 single base substitution T C intron_variant MELA-AU 3 169943718 169943718 single base substitution G A intron_variant MELA-AU 3 169943735 169943735 single base substitution C T intron_variant MELA-AU 3 169944406 169944406 single base substitution A G intron_variant MELA-AU 3 169945152 169945152 single base substitution C T intron_variant MELA-AU 3 169945870 169945870 single base substitution C T intron_variant MELA-AU 3 169946516 169946516 single base substitution G A intron_variant MELA-AU 3 169946591 169946591 single base substitution C T intron_variant MELA-AU 3 169947754 169947754 single base substitution C T intron_variant MELA-AU 3 169948974 169948974 single base substitution C T intron_variant MELA-AU 3 169950558 169950559 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 3 169950730 169950730 single base substitution C T intron_variant MELA-AU 3 169950934 169950934 single base substitution A G intron_variant MELA-AU 3 169951423 169951423 single base substitution C T intron_variant MELA-AU 3 169951807 169951808 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 169953079 169953079 single base substitution C T stop_gained R55* 163C>T MELA-AU 3 169953869 169953869 single base substitution C T intron_variant MELA-AU 3 169953889 169953889 single base substitution A T intron_variant MELA-AU 3 169954095 169954095 single base substitution C T intron_variant MELA-AU 3 169955047 169955047 single base substitution G A intron_variant MELA-AU 3 169955208 169955208 single base substitution A G intron_variant MELA-AU 3 169955343 169955343 single base substitution C T intron_variant MELA-AU 3 169955556 169955556 single base substitution C T intron_variant MELA-AU 3 169955949 169955949 single base substitution G A intron_variant MELA-AU 3 169956192 169956192 single base substitution C T intron_variant MELA-AU 3 169956926 169956926 single base substitution C T intron_variant MELA-AU 3 169957180 169957180 single base substitution A G intron_variant MELA-AU 3 169957196 169957196 single base substitution C T intron_variant MELA-AU 3 169957268 169957268 single base substitution T C intron_variant MELA-AU 3 169957788 169957788 single base substitution A T intron_variant MELA-AU 3 169958064 169958065 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 169958180 169958180 single base substitution C T intron_variant MELA-AU 3 169958285 169958285 single base substitution C T intron_variant MELA-AU 3 169959227 169959227 single base substitution G T intron_variant MELA-AU 3 169959989 169959989 single base substitution C T intron_variant MELA-AU 3 169960558 169960558 single base substitution A G intron_variant MELA-AU 3 169961139 169961139 single base substitution C T intron_variant MELA-AU 3 169962239 169962239 single base substitution G T intron_variant MELA-AU 3 169962298 169962298 single base substitution C T intron_variant MELA-AU 3 169962522 169962522 single base substitution C T intron_variant MELA-AU 3 169963110 169963110 single base substitution C T intron_variant MELA-AU 3 169963150 169963150 single base substitution T A intron_variant MELA-AU 3 169963417 169963417 single base substitution G A intron_variant MELA-AU 3 169963468 169963468 single base substitution C T intron_variant MELA-AU 3 169963584 169963584 single base substitution C T intron_variant MELA-AU 3 169963747 169963747 single base substitution T G intron_variant MELA-AU 3 169963925 169963926 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 3 169964174 169964174 single base substitution C T intron_variant MELA-AU 3 169965472 169965472 single base substitution C T intron_variant MELA-AU 3 169965906 169965906 single base substitution G T intron_variant MELA-AU 3 169966088 169966088 single base substitution C T intron_variant MELA-AU 3 169966632 169966632 single base substitution T A intron_variant MELA-AU 3 169966871 169966871 single base substitution C T intron_variant MELA-AU 3 169966924 169966924 single base substitution C T intron_variant MELA-AU 3 169967688 169967688 single base substitution C A intron_variant MELA-AU 3 169967775 169967775 single base substitution A C intron_variant MELA-AU 3 169967812 169967812 single base substitution C T intron_variant MELA-AU 3 169968083 169968083 single base substitution C T intron_variant MELA-AU 3 169968385 169968385 single base substitution C T intron_variant MELA-AU 3 169968484 169968484 single base substitution G A intron_variant MELA-AU 3 169968971 169968971 single base substitution G A intron_variant MELA-AU 3 169969006 169969006 single base substitution C T intron_variant MELA-AU 3 169969047 169969047 single base substitution T A intron_variant MELA-AU 3 169969741 169969741 single base substitution C T intron_variant MELA-AU 3 169969943 169969943 single base substitution A T intron_variant MELA-AU 3 169970012 169970012 single base substitution A G intron_variant MELA-AU 3 169970281 169970281 single base substitution C T intron_variant MELA-AU 3 169971423 169971423 single base substitution C T intron_variant MELA-AU 3 169972449 169972449 single base substitution C T intron_variant MELA-AU 3 169972565 169972565 single base substitution T A intron_variant MELA-AU 3 169973415 169973415 single base substitution C T intron_variant MELA-AU 3 169973599 169973599 single base substitution C T intron_variant MELA-AU 3 169973713 169973713 single base substitution T C intron_variant MELA-AU 3 169974175 169974175 single base substitution G A intron_variant MELA-AU 3 169974274 169974274 single base substitution C T intron_variant MELA-AU 3 169974772 169974772 single base substitution G A intron_variant MELA-AU 3 169975228 169975228 single base substitution G A intron_variant MELA-AU 3 169975345 169975345 single base substitution C T intron_variant MELA-AU 3 169976127 169976127 insertion of <=200bp - TT intron_variant MELA-AU 3 169976597 169976597 single base substitution C T intron_variant MELA-AU 3 169977568 169977568 single base substitution T A intron_variant MELA-AU 3 169977595 169977595 single base substitution C T intron_variant MELA-AU 3 169977853 169977853 single base substitution G A splice_region_variant MELA-AU 3 169978040 169978040 single base substitution G A intron_variant MELA-AU 3 169978729 169978729 single base substitution T G intron_variant MELA-AU 3 169979052 169979052 single base substitution C T intron_variant MELA-AU 3 169979102 169979102 single base substitution C T intron_variant MELA-AU 3 169980121 169980121 single base substitution C T intron_variant MELA-AU 3 169980180 169980180 single base substitution C T intron_variant MELA-AU 3 169980357 169980357 single base substitution C G intron_variant MELA-AU 3 169980359 169980360 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 169980378 169980378 single base substitution C T intron_variant MELA-AU 3 169981423 169981423 single base substitution T A intron_variant MELA-AU 3 169982328 169982328 single base substitution G A intron_variant MELA-AU 3 169982557 169982557 single base substitution C T intron_variant MELA-AU 3 169982558 169982558 single base substitution C T intron_variant MELA-AU 3 169983570 169983570 single base substitution T A intron_variant MELA-AU 3 169983580 169983580 single base substitution A G intron_variant MELA-AU 3 169983698 169983698 single base substitution C T intron_variant MELA-AU 3 169983700 169983700 single base substitution C T intron_variant MELA-AU 3 169983851 169983851 single base substitution C T intron_variant MELA-AU 3 169984528 169984528 single base substitution C T intron_variant MELA-AU 3 169984562 169984563 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 169984680 169984680 single base substitution C T intron_variant MELA-AU 3 169984919 169984919 single base substitution G A intron_variant MELA-AU 3 169984935 169984935 single base substitution C T intron_variant MELA-AU 3 169985145 169985145 single base substitution T C intron_variant MELA-AU 3 169985226 169985227 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 169985805 169985805 single base substitution G A intron_variant MELA-AU 3 169986547 169986547 single base substitution C T intron_variant MELA-AU 3 169987670 169987670 single base substitution C T intron_variant MELA-AU 3 169987714 169987714 single base substitution C T intron_variant MELA-AU 3 169989050 169989050 single base substitution C T intron_variant MELA-AU 3 169989165 169989165 single base substitution C T intron_variant MELA-AU 3 169989749 169989749 single base substitution G A intron_variant MELA-AU 3 169990252 169990252 single base substitution G A intron_variant MELA-AU 3 169990518 169990518 single base substitution C T intron_variant MELA-AU 3 169991517 169991517 single base substitution C T intron_variant MELA-AU 3 169992040 169992040 single base substitution C T intron_variant MELA-AU 3 169992147 169992147 single base substitution C T intron_variant MELA-AU 3 169993055 169993055 single base substitution C T stop_gained Q229* 685C>T MELA-AU 3 169993055 169993055 single base substitution C T upstream_gene_variant MELA-AU 3 169993832 169993832 single base substitution C T intron_variant MELA-AU 3 169993832 169993832 single base substitution C T upstream_gene_variant MELA-AU 3 169994388 169994388 single base substitution C T intron_variant MELA-AU 3 169994388 169994388 single base substitution C T upstream_gene_variant MELA-AU 3 169995055 169995055 single base substitution G A intron_variant MELA-AU 3 169995055 169995055 single base substitution G A upstream_gene_variant MELA-AU 3 169995494 169995494 single base substitution A G intron_variant MELA-AU 3 169995494 169995494 single base substitution A G upstream_gene_variant MELA-AU 3 169995694 169995694 single base substitution C T intron_variant MELA-AU 3 169995694 169995694 single base substitution C T upstream_gene_variant MELA-AU 3 169995744 169995744 single base substitution C T intron_variant MELA-AU 3 169995744 169995744 single base substitution C T upstream_gene_variant MELA-AU 3 169997836 169997836 single base substitution A G intron_variant MELA-AU 3 169997836 169997836 single base substitution A G upstream_gene_variant MELA-AU 3 169997929 169997929 single base substitution C T intron_variant MELA-AU 3 169997929 169997929 single base substitution C T upstream_gene_variant MELA-AU 3 169998140 169998140 single base substitution T C exon_variant MELA-AU 3 169998140 169998140 single base substitution T C synonymous_variant D277D 831T>C MELA-AU 3 169998140 169998140 single base substitution T C upstream_gene_variant MELA-AU 3 169998329 169998329 single base substitution C T intron_variant MELA-AU 3 169998329 169998329 single base substitution C T upstream_gene_variant MELA-AU 3 169998344 169998344 single base substitution C T intron_variant MELA-AU 3 169998344 169998344 single base substitution C T upstream_gene_variant MELA-AU 3 169999128 169999128 single base substitution C T downstream_gene_variant MELA-AU 3 169999128 169999128 single base substitution C T exon_variant MELA-AU 3 169999128 169999128 single base substitution C T intron_variant MELA-AU 3 169999128 169999128 single base substitution C T upstream_gene_variant MELA-AU 3 169999415 169999415 single base substitution G A downstream_gene_variant MELA-AU 3 169999415 169999415 single base substitution G A exon_variant MELA-AU 3 169999415 169999415 single base substitution G A intron_variant MELA-AU 3 170000570 170000570 single base substitution C T downstream_gene_variant MELA-AU 3 170000570 170000570 single base substitution C T intron_variant MELA-AU 3 170000775 170000776 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 3 170000775 170000776 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 3 170001084 170001084 single base substitution C T downstream_gene_variant MELA-AU 3 170001084 170001084 single base substitution C T intron_variant MELA-AU 3 170001207 170001207 single base substitution C T downstream_gene_variant MELA-AU 3 170001207 170001207 single base substitution C T intron_variant MELA-AU 3 170001260 170001260 single base substitution C T downstream_gene_variant MELA-AU 3 170001260 170001260 single base substitution C T intron_variant MELA-AU 3 170001645 170001645 single base substitution C T downstream_gene_variant MELA-AU 3 170001645 170001645 single base substitution C T intron_variant MELA-AU 3 170001951 170001951 single base substitution C T downstream_gene_variant MELA-AU 3 170001951 170001951 single base substitution C T intron_variant MELA-AU 3 170002562 170002562 single base substitution C T downstream_gene_variant MELA-AU 3 170002562 170002562 single base substitution C T intron_variant MELA-AU 3 170002679 170002679 single base substitution C T downstream_gene_variant MELA-AU 3 170002679 170002679 single base substitution C T intron_variant MELA-AU 3 170003327 170003327 single base substitution C T downstream_gene_variant MELA-AU 3 170003327 170003327 single base substitution C T intron_variant MELA-AU 3 170003334 170003334 single base substitution C T downstream_gene_variant MELA-AU 3 170003334 170003334 single base substitution C T intron_variant MELA-AU 3 170003352 170003352 single base substitution C T downstream_gene_variant MELA-AU 3 170003352 170003352 single base substitution C T intron_variant MELA-AU 3 170004289 170004289 single base substitution T A downstream_gene_variant MELA-AU 3 170004289 170004289 single base substitution T A intron_variant MELA-AU 3 170005227 170005227 single base substitution C T downstream_gene_variant MELA-AU 3 170005227 170005227 single base substitution C T intron_variant MELA-AU 3 170005227 170005227 single base substitution C T upstream_gene_variant MELA-AU 3 170005302 170005302 single base substitution A T downstream_gene_variant MELA-AU 3 170005302 170005302 single base substitution A T intron_variant MELA-AU 3 170005302 170005302 single base substitution A T upstream_gene_variant MELA-AU 3 170005332 170005332 single base substitution C G downstream_gene_variant MELA-AU 3 170005332 170005332 single base substitution C G intron_variant MELA-AU 3 170005332 170005332 single base substitution C G upstream_gene_variant MELA-AU 3 170005758 170005759 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 170005758 170005759 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 170005758 170005759 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 170005988 170005988 single base substitution C T downstream_gene_variant MELA-AU 3 170005988 170005988 single base substitution C T intron_variant MELA-AU 3 170005988 170005988 single base substitution C T upstream_gene_variant MELA-AU 3 170006451 170006451 single base substitution C T downstream_gene_variant MELA-AU 3 170006451 170006451 single base substitution C T intron_variant MELA-AU 3 170006451 170006451 single base substitution C T upstream_gene_variant MELA-AU 3 170006513 170006513 single base substitution C T downstream_gene_variant MELA-AU 3 170006513 170006513 single base substitution C T intron_variant MELA-AU 3 170006513 170006513 single base substitution C T upstream_gene_variant MELA-AU 3 170007010 170007010 single base substitution C T downstream_gene_variant MELA-AU 3 170007010 170007010 single base substitution C T intron_variant MELA-AU 3 170007010 170007010 single base substitution C T upstream_gene_variant MELA-AU 3 170007309 170007309 single base substitution C T downstream_gene_variant MELA-AU 3 170007309 170007309 single base substitution C T intron_variant MELA-AU 3 170007309 170007309 single base substitution C T upstream_gene_variant MELA-AU 3 170007440 170007440 single base substitution C T intron_variant MELA-AU 3 170007440 170007440 single base substitution C T upstream_gene_variant MELA-AU 3 170008109 170008109 single base substitution C T intron_variant MELA-AU 3 170008109 170008109 single base substitution C T upstream_gene_variant MELA-AU 3 170008742 170008742 single base substitution G A intron_variant MELA-AU 3 170008742 170008742 single base substitution G A upstream_gene_variant MELA-AU 3 170008857 170008857 single base substitution G A intron_variant MELA-AU 3 170008857 170008857 single base substitution G A upstream_gene_variant MELA-AU 3 170009311 170009311 single base substitution C T intron_variant MELA-AU 3 170009311 170009311 single base substitution C T upstream_gene_variant MELA-AU 3 170009877 170009877 single base substitution C T intron_variant MELA-AU 3 170009877 170009877 single base substitution C T upstream_gene_variant MELA-AU 3 170010052 170010052 single base substitution C T intron_variant MELA-AU 3 170010052 170010052 single base substitution C T upstream_gene_variant MELA-AU 3 170010271 170010271 single base substitution G A intron_variant MELA-AU 3 170010271 170010271 single base substitution G A upstream_gene_variant MELA-AU 3 170011089 170011089 single base substitution C T intron_variant MELA-AU 3 170011089 170011089 single base substitution C T upstream_gene_variant MELA-AU 3 170011531 170011531 single base substitution C T intron_variant MELA-AU 3 170011940 170011940 single base substitution C A intron_variant MELA-AU 3 170011948 170011948 single base substitution C T intron_variant MELA-AU 3 170012275 170012275 single base substitution C T intron_variant MELA-AU 3 170012277 170012277 single base substitution G A intron_variant MELA-AU 3 170012659 170012659 single base substitution T A intron_variant MELA-AU 3 170013699 170013699 single base substitution T A missense_variant V473D 1418T>A MELA-AU 3 170013699 170013699 single base substitution T A splice_region_variant MELA-AU 3 170013719 170013719 single base substitution C T exon_variant MELA-AU 3 170013719 170013719 single base substitution C T missense_variant R480C 1438C>T MELA-AU 3 170014108 170014108 single base substitution C T intron_variant MELA-AU 3 170014166 170014166 single base substitution C T intron_variant MELA-AU 3 170014330 170014330 single base substitution C T intron_variant MELA-AU 3 170014606 170014606 single base substitution C T intron_variant MELA-AU 3 170015149 170015149 single base substitution C T downstream_gene_variant MELA-AU 3 170015149 170015149 single base substitution C T exon_variant MELA-AU 3 170015149 170015149 single base substitution C T missense_variant H519Y 1555C>T MELA-AU 3 170015250 170015250 single base substitution C T downstream_gene_variant MELA-AU 3 170015250 170015250 single base substitution C T intron_variant MELA-AU 3 170015881 170015881 single base substitution G A downstream_gene_variant MELA-AU 3 170015881 170015881 single base substitution G A intron_variant MELA-AU 3 170015956 170015956 single base substitution C T downstream_gene_variant MELA-AU 3 170015956 170015956 single base substitution C T intron_variant MELA-AU 3 170016188 170016188 single base substitution C A downstream_gene_variant MELA-AU 3 170016188 170016188 single base substitution C A intron_variant MELA-AU 3 170016206 170016206 single base substitution T A downstream_gene_variant MELA-AU 3 170016206 170016206 single base substitution T A intron_variant MELA-AU 3 170016418 170016418 single base substitution C T downstream_gene_variant MELA-AU 3 170016418 170016418 single base substitution C T intron_variant MELA-AU 3 170016435 170016435 single base substitution C T downstream_gene_variant MELA-AU 3 170016435 170016435 single base substitution C T intron_variant MELA-AU 3 170016658 170016658 single base substitution A T downstream_gene_variant MELA-AU 3 170016658 170016658 single base substitution A T intron_variant MELA-AU 3 170016973 170016973 single base substitution C T downstream_gene_variant MELA-AU 3 170016973 170016973 single base substitution C T intron_variant MELA-AU 3 170017257 170017257 single base substitution C T downstream_gene_variant MELA-AU 3 170017257 170017257 single base substitution C T intron_variant MELA-AU 3 170017380 170017380 single base substitution A C downstream_gene_variant MELA-AU 3 170017380 170017380 single base substitution A C intron_variant MELA-AU 3 170018061 170018061 single base substitution C T downstream_gene_variant MELA-AU 3 170018061 170018061 single base substitution C T intron_variant MELA-AU 3 170018214 170018214 single base substitution C T downstream_gene_variant MELA-AU 3 170018214 170018214 single base substitution C T intron_variant MELA-AU 3 170018268 170018268 single base substitution C T downstream_gene_variant MELA-AU 3 170018268 170018268 single base substitution C T intron_variant MELA-AU 3 170018601 170018601 single base substitution C T downstream_gene_variant MELA-AU 3 170018601 170018601 single base substitution C T intron_variant MELA-AU 3 170018706 170018706 single base substitution C T downstream_gene_variant MELA-AU 3 170018706 170018706 single base substitution C T intron_variant MELA-AU 3 170019413 170019414 multiple base substitution (>=2bp and <=200bp) TG AT downstream_gene_variant MELA-AU 3 170019413 170019414 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 3 170019824 170019824 single base substitution C T downstream_gene_variant MELA-AU 3 170019824 170019824 single base substitution C T intron_variant MELA-AU 3 170019961 170019961 single base substitution C T downstream_gene_variant MELA-AU 3 170019961 170019961 single base substitution C T intron_variant MELA-AU 3 170019998 170019998 single base substitution C T downstream_gene_variant MELA-AU 3 170019998 170019998 single base substitution C T intron_variant MELA-AU 3 170020202 170020202 single base substitution C T intron_variant MELA-AU 3 170020203 170020203 single base substitution C A intron_variant MELA-AU 3 170020665 170020665 single base substitution C T intron_variant MELA-AU 3 170020683 170020683 single base substitution G A intron_variant MELA-AU 3 170020730 170020730 single base substitution C A intron_variant MELA-AU 3 170020818 170020818 single base substitution C T intron_variant MELA-AU 3 170021170 170021170 single base substitution G A 3_prime_UTR_variant MELA-AU 3 170021170 170021170 single base substitution G A downstream_gene_variant MELA-AU 3 170021170 170021170 single base substitution G A exon_variant MELA-AU 3 170022197 170022197 single base substitution C T 3_prime_UTR_variant MELA-AU 3 170022197 170022197 single base substitution C T downstream_gene_variant MELA-AU 3 170022197 170022197 single base substitution C T exon_variant MELA-AU 3 170022309 170022309 single base substitution T A 3_prime_UTR_variant MELA-AU 3 170022309 170022309 single base substitution T A downstream_gene_variant MELA-AU 3 170022309 170022309 single base substitution T A exon_variant MELA-AU 3 170022452 170022452 single base substitution C T 3_prime_UTR_variant MELA-AU 3 170022452 170022452 single base substitution C T downstream_gene_variant MELA-AU 3 170022452 170022452 single base substitution C T exon_variant MELA-AU 3 170022460 170022460 single base substitution T A 3_prime_UTR_variant MELA-AU 3 170022460 170022460 single base substitution T A downstream_gene_variant MELA-AU 3 170022460 170022460 single base substitution T A exon_variant MELA-AU 3 170023214 170023214 single base substitution C T 3_prime_UTR_variant MELA-AU 3 170023214 170023214 single base substitution C T downstream_gene_variant MELA-AU 3 170023214 170023214 single base substitution C T exon_variant MELA-AU 3 170023889 170023889 single base substitution C T downstream_gene_variant MELA-AU 3 170024100 170024100 single base substitution C T downstream_gene_variant MELA-AU 3 170024582 170024582 single base substitution C A downstream_gene_variant MELA-AU 3 170024899 170024899 single base substitution C T downstream_gene_variant MELA-AU 3 170025876 170025876 single base substitution C T downstream_gene_variant MELA-AU 3 170026103 170026103 single base substitution C T downstream_gene_variant MELA-AU 3 170026216 170026216 single base substitution C T downstream_gene_variant MELA-AU 3 170026715 170026715 single base substitution G A downstream_gene_variant MELA-AU 3 170026744 170026744 single base substitution G A downstream_gene_variant MELA-AU 3 170027783 170027783 single base substitution T A downstream_gene_variant MELA-AU 3 170028758 170028758 single base substitution C T downstream_gene_variant ORCA-IN 3 169952110 169952110 single base substitution C T intron_variant ORCA-IN 3 169989321 169989321 single base substitution C G intron_variant ORCA-IN 3 170001604 170001604 single base substitution G A downstream_gene_variant ORCA-IN 3 170001604 170001604 single base substitution G A intron_variant ORCA-IN 3 170002313 170002313 single base substitution G A downstream_gene_variant ORCA-IN 3 170002313 170002313 single base substitution G A exon_variant ORCA-IN 3 170002313 170002313 single base substitution G A missense_variant D378N 1132G>A ORCA-IN 3 170002369 170002369 single base substitution C A downstream_gene_variant ORCA-IN 3 170002369 170002369 single base substitution C A exon_variant ORCA-IN 3 170002369 170002369 single base substitution C A missense_variant D396E 1188C>A OV-AU 3 169935867 169935867 single base substitution T A upstream_gene_variant OV-AU 3 169939961 169939961 single base substitution C G upstream_gene_variant OV-AU 3 169940645 169940645 single base substitution T G intron_variant OV-AU 3 169940967 169940967 single base substitution G A intron_variant OV-AU 3 169943657 169943657 single base substitution C A intron_variant OV-AU 3 169943966 169943966 single base substitution G C intron_variant OV-AU 3 169945427 169945427 single base substitution C T intron_variant OV-AU 3 169946331 169946331 single base substitution C G intron_variant OV-AU 3 169946430 169946430 single base substitution T C intron_variant OV-AU 3 169951737 169951737 single base substitution G A intron_variant OV-AU 3 169957048 169957048 single base substitution G T intron_variant OV-AU 3 169958173 169958173 single base substitution C T intron_variant OV-AU 3 169970049 169970049 single base substitution A C intron_variant OV-AU 3 169971076 169971076 single base substitution T C intron_variant OV-AU 3 169985185 169985185 single base substitution G A intron_variant OV-AU 3 169996569 169996569 single base substitution G A intron_variant OV-AU 3 169996569 169996569 single base substitution G A upstream_gene_variant OV-AU 3 170000691 170000691 single base substitution G A downstream_gene_variant OV-AU 3 170000691 170000691 single base substitution G A intron_variant OV-AU 3 170005810 170005810 single base substitution G A downstream_gene_variant OV-AU 3 170005810 170005810 single base substitution G A intron_variant OV-AU 3 170005810 170005810 single base substitution G A upstream_gene_variant OV-AU 3 170011171 170011171 single base substitution G T exon_variant OV-AU 3 170011171 170011171 single base substitution G T missense_variant G431V 1292G>T OV-AU 3 170011171 170011171 single base substitution G T splice_region_variant OV-AU 3 170016541 170016541 single base substitution C T downstream_gene_variant OV-AU 3 170016541 170016541 single base substitution C T intron_variant OV-AU 3 170016548 170016548 single base substitution T C downstream_gene_variant OV-AU 3 170016548 170016548 single base substitution T C intron_variant OV-AU 3 170018907 170018907 single base substitution A T downstream_gene_variant OV-AU 3 170018907 170018907 single base substitution A T intron_variant OV-AU 3 170019184 170019184 single base substitution G C downstream_gene_variant OV-AU 3 170019184 170019184 single base substitution G C intron_variant OV-AU 3 170021195 170021195 single base substitution T A 3_prime_UTR_variant OV-AU 3 170021195 170021195 single base substitution T A downstream_gene_variant OV-AU 3 170021195 170021195 single base substitution T A exon_variant OV-AU 3 170022806 170022806 single base substitution A C 3_prime_UTR_variant OV-AU 3 170022806 170022806 single base substitution A C downstream_gene_variant OV-AU 3 170022806 170022806 single base substitution A C exon_variant OV-AU 3 170026002 170026002 single base substitution G A downstream_gene_variant OV-AU 3 170026443 170026443 single base substitution T G downstream_gene_variant PACA-AU 3 169938381 169938381 single base substitution G T upstream_gene_variant PACA-AU 3 169939923 169939923 single base substitution A C upstream_gene_variant PACA-AU 3 169951452 169951452 single base substitution A C intron_variant PACA-AU 3 169952455 169952455 single base substitution A C intron_variant PACA-AU 3 169954796 169954796 single base substitution G A intron_variant PACA-AU 3 169966169 169966169 deletion of <=200bp A - intron_variant PACA-AU 3 169974893 169974893 single base substitution G T intron_variant PACA-AU 3 169976100 169976100 insertion of <=200bp - CTT intron_variant PACA-AU 3 169979991 169979991 deletion of <=200bp T - intron_variant PACA-AU 3 169981207 169981209 deletion of <=200bp AGG - inframe_deletion PG118P PACA-AU 3 169995221 169995221 single base substitution G C intron_variant PACA-AU 3 169995221 169995221 single base substitution G C upstream_gene_variant PACA-AU 3 170000099 170000099 single base substitution A G downstream_gene_variant PACA-AU 3 170000099 170000099 single base substitution A G intron_variant PACA-AU 3 170007236 170007236 single base substitution T C downstream_gene_variant PACA-AU 3 170007236 170007236 single base substitution T C intron_variant PACA-AU 3 170007236 170007236 single base substitution T C upstream_gene_variant PACA-AU 3 170007542 170007542 single base substitution A T intron_variant PACA-AU 3 170007542 170007542 single base substitution A T upstream_gene_variant PACA-AU 3 170014699 170014699 single base substitution T A intron_variant PACA-AU 3 170014907 170014907 single base substitution T G intron_variant PACA-AU 3 170015180 170015180 single base substitution T G downstream_gene_variant PACA-AU 3 170015180 170015180 single base substitution T G missense_variant M529R 1586T>G PACA-AU 3 170015180 170015180 single base substitution T G splice_region_variant PACA-AU 3 170017390 170017390 single base substitution G A downstream_gene_variant PACA-AU 3 170017390 170017390 single base substitution G A intron_variant PACA-AU 3 170017719 170017719 single base substitution A G downstream_gene_variant PACA-AU 3 170017719 170017719 single base substitution A G intron_variant PACA-AU 3 170021192 170021192 single base substitution G T 3_prime_UTR_variant PACA-AU 3 170021192 170021192 single base substitution G T downstream_gene_variant PACA-AU 3 170021192 170021192 single base substitution G T exon_variant PACA-AU 3 170021644 170021644 single base substitution G A 3_prime_UTR_variant PACA-AU 3 170021644 170021644 single base substitution G A downstream_gene_variant PACA-AU 3 170021644 170021644 single base substitution G A exon_variant PACA-AU 3 170021735 170021735 single base substitution A C 3_prime_UTR_variant PACA-AU 3 170021735 170021735 single base substitution A C downstream_gene_variant PACA-AU 3 170021735 170021735 single base substitution A C exon_variant PACA-CA 3 169936117 169936117 single base substitution G A upstream_gene_variant PACA-CA 3 169936581 169936581 single base substitution G T upstream_gene_variant PACA-CA 3 169938886 169938886 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 169939905 169939905 single base substitution C G upstream_gene_variant PACA-CA 3 169940253 169940253 single base substitution C T 5_prime_UTR_variant PACA-CA 3 169940311 169940311 single base substitution C T 5_prime_UTR_variant PACA-CA 3 169941174 169941174 single base substitution G C intron_variant PACA-CA 3 169942519 169942519 single base substitution C A intron_variant PACA-CA 3 169943299 169943299 single base substitution C G intron_variant PACA-CA 3 169943625 169943625 single base substitution G A intron_variant PACA-CA 3 169944967 169944967 insertion of <=200bp - T intron_variant PACA-CA 3 169946390 169946390 insertion of <=200bp - AT intron_variant PACA-CA 3 169946406 169946406 single base substitution C T intron_variant PACA-CA 3 169948131 169948131 deletion of <=200bp T - intron_variant PACA-CA 3 169950210 169950210 single base substitution A G intron_variant PACA-CA 3 169950373 169950373 single base substitution G C intron_variant PACA-CA 3 169952394 169952394 single base substitution A C intron_variant PACA-CA 3 169958797 169958797 single base substitution G A intron_variant PACA-CA 3 169958857 169958857 single base substitution G T intron_variant PACA-CA 3 169958918 169958918 single base substitution G A intron_variant PACA-CA 3 169963351 169963351 single base substitution C T intron_variant PACA-CA 3 169967189 169967190 deletion of <=200bp GA - intron_variant PACA-CA 3 169971097 169971097 single base substitution G A intron_variant PACA-CA 3 169976347 169976347 single base substitution C G intron_variant PACA-CA 3 169977657 169977657 single base substitution G C intron_variant PACA-CA 3 169983712 169983712 single base substitution A G intron_variant PACA-CA 3 169984880 169984880 single base substitution G A intron_variant PACA-CA 3 169989035 169989035 single base substitution A C intron_variant PACA-CA 3 169990419 169990419 single base substitution C G intron_variant PACA-CA 3 169992289 169992289 single base substitution C T intron_variant PACA-CA 3 169995015 169995015 single base substitution C T intron_variant PACA-CA 3 169995015 169995015 single base substitution C T upstream_gene_variant PACA-CA 3 169997665 169997665 single base substitution A G intron_variant PACA-CA 3 169997665 169997665 single base substitution A G upstream_gene_variant PACA-CA 3 169999064 169999064 single base substitution G T downstream_gene_variant PACA-CA 3 169999064 169999064 single base substitution G T exon_variant PACA-CA 3 169999064 169999064 single base substitution G T intron_variant PACA-CA 3 169999064 169999064 single base substitution G T upstream_gene_variant PACA-CA 3 170001221 170001221 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 170001221 170001221 deletion of <=200bp A - intron_variant PACA-CA 3 170002200 170002200 single base substitution G C downstream_gene_variant PACA-CA 3 170002200 170002200 single base substitution G C intron_variant PACA-CA 3 170003618 170003618 single base substitution C T downstream_gene_variant PACA-CA 3 170003618 170003618 single base substitution C T intron_variant PACA-CA 3 170004960 170004960 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 170004960 170004960 deletion of <=200bp A - intron_variant PACA-CA 3 170004960 170004960 deletion of <=200bp A - upstream_gene_variant PACA-CA 3 170005126 170005126 single base substitution T G downstream_gene_variant PACA-CA 3 170005126 170005126 single base substitution T G intron_variant PACA-CA 3 170005126 170005126 single base substitution T G upstream_gene_variant PACA-CA 3 170007299 170007299 single base substitution C T downstream_gene_variant PACA-CA 3 170007299 170007299 single base substitution C T intron_variant PACA-CA 3 170007299 170007299 single base substitution C T upstream_gene_variant PACA-CA 3 170007561 170007561 single base substitution G A intron_variant PACA-CA 3 170007561 170007561 single base substitution G A upstream_gene_variant PACA-CA 3 170008691 170008691 single base substitution C T intron_variant PACA-CA 3 170008691 170008691 single base substitution C T upstream_gene_variant PACA-CA 3 170008796 170008796 single base substitution C T intron_variant PACA-CA 3 170008796 170008796 single base substitution C T upstream_gene_variant PACA-CA 3 170013719 170013719 single base substitution C T exon_variant PACA-CA 3 170013719 170013719 single base substitution C T missense_variant R480C 1438C>T PACA-CA 3 170015428 170015428 insertion of <=200bp - G downstream_gene_variant PACA-CA 3 170015428 170015428 insertion of <=200bp - G intron_variant PACA-CA 3 170016069 170016069 single base substitution C G downstream_gene_variant PACA-CA 3 170016069 170016069 single base substitution C G intron_variant PACA-CA 3 170018249 170018249 insertion of <=200bp - T downstream_gene_variant PACA-CA 3 170018249 170018249 insertion of <=200bp - T intron_variant PACA-CA 3 170018697 170018697 single base substitution A G downstream_gene_variant PACA-CA 3 170018697 170018697 single base substitution A G intron_variant PACA-CA 3 170024880 170024880 single base substitution G A downstream_gene_variant PACA-CA 3 170027338 170027338 single base substitution T C downstream_gene_variant PAEN-AU 3 169949762 169949762 single base substitution G C intron_variant PAEN-AU 3 169968874 169968874 single base substitution A T intron_variant PAEN-AU 3 169970828 169970828 single base substitution A G intron_variant PAEN-AU 3 169975641 169975641 single base substitution G A intron_variant PAEN-AU 3 170017168 170017168 single base substitution G A downstream_gene_variant PAEN-AU 3 170017168 170017168 single base substitution G A intron_variant PBCA-DE 3 169936177 169936177 deletion of <=200bp A - upstream_gene_variant PBCA-DE 3 169939835 169939835 single base substitution T G upstream_gene_variant PBCA-DE 3 169946405 169946406 deletion of <=200bp AC - intron_variant PBCA-DE 3 169949449 169949449 single base substitution C T intron_variant PBCA-DE 3 169950361 169950361 deletion of <=200bp T - intron_variant PBCA-DE 3 169951136 169951136 insertion of <=200bp - A intron_variant PBCA-DE 3 169951516 169951516 insertion of <=200bp - T intron_variant PBCA-DE 3 169952213 169952213 deletion of <=200bp A - intron_variant PBCA-DE 3 169953896 169953896 deletion of <=200bp T - intron_variant PBCA-DE 3 169957789 169957789 single base substitution T A intron_variant PBCA-DE 3 169964710 169964710 single base substitution T C intron_variant PBCA-DE 3 169967171 169967172 deletion of <=200bp AG - intron_variant PBCA-DE 3 169975915 169975915 single base substitution T C intron_variant PBCA-DE 3 169983561 169983561 insertion of <=200bp - T intron_variant PBCA-DE 3 170005128 170005128 single base substitution G T downstream_gene_variant PBCA-DE 3 170005128 170005128 single base substitution G T intron_variant PBCA-DE 3 170005128 170005128 single base substitution G T upstream_gene_variant PBCA-DE 3 170010948 170010948 insertion of <=200bp - T intron_variant PBCA-DE 3 170010948 170010948 insertion of <=200bp - T upstream_gene_variant PBCA-DE 3 170012664 170012664 insertion of <=200bp - T intron_variant PBCA-DE 3 170013997 170013997 single base substitution A G intron_variant PBCA-DE 3 170014529 170014529 single base substitution G A intron_variant PRAD-CA 3 169948750 169948750 single base substitution T G intron_variant PRAD-CA 3 169948751 169948751 single base substitution G T intron_variant PRAD-CA 3 170005128 170005128 single base substitution G T downstream_gene_variant PRAD-CA 3 170005128 170005128 single base substitution G T intron_variant PRAD-CA 3 170005128 170005128 single base substitution G T upstream_gene_variant PRAD-CA 3 170009625 170009625 single base substitution G T exon_variant PRAD-CA 3 170009625 170009625 single base substitution G T intron_variant PRAD-CA 3 170009625 170009625 single base substitution G T upstream_gene_variant PRAD-CA 3 170027345 170027345 single base substitution C T downstream_gene_variant PRAD-UK 3 169941570 169941570 single base substitution A C intron_variant PRAD-UK 3 169960620 169960620 single base substitution G A intron_variant PRAD-UK 3 169971435 169971435 single base substitution C T intron_variant PRAD-UK 3 170005906 170005906 single base substitution C T downstream_gene_variant PRAD-UK 3 170005906 170005906 single base substitution C T intron_variant PRAD-UK 3 170005906 170005906 single base substitution C T upstream_gene_variant PRAD-UK 3 170020128 170020128 single base substitution A G intron_variant PRAD-UK 3 170025293 170025293 single base substitution G A downstream_gene_variant READ-US 3 169999738 169999738 single base substitution T G downstream_gene_variant READ-US 3 169999738 169999738 single base substitution T G exon_variant READ-US 3 169999738 169999738 single base substitution T G missense_variant L350R 1049T>G READ-US 3 170009649 170009649 single base substitution T C exon_variant READ-US 3 170009649 170009649 single base substitution T C missense_variant L404S 1211T>C READ-US 3 170009649 170009649 single base substitution T C upstream_gene_variant READ-US 3 170013720 170013720 single base substitution G A exon_variant READ-US 3 170013720 170013720 single base substitution G A missense_variant R480H 1439G>A READ-US 3 170020860 170020860 single base substitution T G exon_variant READ-US 3 170020860 170020860 single base substitution T G missense_variant F579C 1736T>G RECA-EU 3 169937133 169937133 single base substitution T A upstream_gene_variant RECA-EU 3 169946404 169946404 single base substitution T C intron_variant RECA-EU 3 169949930 169949930 single base substitution C G intron_variant RECA-EU 3 169954652 169954652 single base substitution C A intron_variant RECA-EU 3 169963750 169963750 single base substitution T G intron_variant RECA-EU 3 169963754 169963754 single base substitution T G intron_variant RECA-EU 3 169965850 169965850 single base substitution C T intron_variant RECA-EU 3 169978263 169978263 single base substitution T A intron_variant RECA-EU 3 169982919 169982919 single base substitution G A intron_variant RECA-EU 3 169983340 169983340 single base substitution C T intron_variant RECA-EU 3 169984514 169984514 single base substitution C T intron_variant RECA-EU 3 169992014 169992014 single base substitution G T intron_variant RECA-EU 3 170005714 170005714 single base substitution A G downstream_gene_variant RECA-EU 3 170005714 170005714 single base substitution A G intron_variant RECA-EU 3 170005714 170005714 single base substitution A G upstream_gene_variant RECA-EU 3 170026917 170026917 single base substitution A G downstream_gene_variant SKCA-BR 3 169935873 169935873 single base substitution A T upstream_gene_variant SKCA-BR 3 169937439 169937439 single base substitution T C upstream_gene_variant SKCA-BR 3 169939766 169939766 single base substitution G A upstream_gene_variant SKCA-BR 3 169940032 169940032 single base substitution G A upstream_gene_variant SKCA-BR 3 169943002 169943002 single base substitution G A intron_variant SKCA-BR 3 169947641 169947641 single base substitution C T intron_variant SKCA-BR 3 169947806 169947806 single base substitution C A intron_variant SKCA-BR 3 169948751 169948751 single base substitution G T intron_variant SKCA-BR 3 169950417 169950417 single base substitution C G intron_variant SKCA-BR 3 169953895 169953895 insertion of <=200bp - AT intron_variant SKCA-BR 3 169954652 169954652 insertion of <=200bp - CA intron_variant SKCA-BR 3 169954656 169954656 insertion of <=200bp - AG intron_variant SKCA-BR 3 169956252 169956253 deletion of <=200bp CT - intron_variant SKCA-BR 3 169963121 169963121 single base substitution C T intron_variant SKCA-BR 3 169963432 169963432 single base substitution C T intron_variant SKCA-BR 3 169964841 169964841 insertion of <=200bp - TCTC intron_variant SKCA-BR 3 169968060 169968060 insertion of <=200bp - GA intron_variant SKCA-BR 3 169972375 169972375 single base substitution C T intron_variant SKCA-BR 3 169972843 169972844 deletion of <=200bp CT - intron_variant SKCA-BR 3 169976329 169976329 single base substitution A C intron_variant SKCA-BR 3 169978214 169978214 single base substitution C T intron_variant SKCA-BR 3 169980354 169980354 single base substitution C T intron_variant SKCA-BR 3 169980612 169980612 single base substitution C T intron_variant SKCA-BR 3 169980973 169980973 single base substitution C T intron_variant SKCA-BR 3 169982957 169982957 single base substitution A G intron_variant SKCA-BR 3 169984832 169984832 single base substitution A G intron_variant SKCA-BR 3 169985707 169985707 single base substitution C T synonymous_variant S123S 369C>T SKCA-BR 3 169987423 169987423 single base substitution G A intron_variant SKCA-BR 3 169988973 169988973 single base substitution C T intron_variant SKCA-BR 3 169997790 169997790 single base substitution C T intron_variant SKCA-BR 3 169997790 169997790 single base substitution C T upstream_gene_variant SKCA-BR 3 170000720 170000720 single base substitution C T downstream_gene_variant SKCA-BR 3 170000720 170000720 single base substitution C T intron_variant SKCA-BR 3 170001466 170001466 single base substitution A T downstream_gene_variant SKCA-BR 3 170001466 170001466 single base substitution A T intron_variant SKCA-BR 3 170003202 170003202 single base substitution C T downstream_gene_variant SKCA-BR 3 170003202 170003202 single base substitution C T intron_variant SKCA-BR 3 170003797 170003797 single base substitution C T downstream_gene_variant SKCA-BR 3 170003797 170003797 single base substitution C T intron_variant SKCA-BR 3 170010171 170010171 single base substitution C T intron_variant SKCA-BR 3 170010171 170010171 single base substitution C T upstream_gene_variant SKCA-BR 3 170010232 170010232 single base substitution C T intron_variant SKCA-BR 3 170010232 170010232 single base substitution C T upstream_gene_variant SKCA-BR 3 170010313 170010313 single base substitution G A intron_variant SKCA-BR 3 170010313 170010313 single base substitution G A upstream_gene_variant SKCA-BR 3 170016112 170016112 single base substitution A G downstream_gene_variant SKCA-BR 3 170016112 170016112 single base substitution A G intron_variant SKCA-BR 3 170017980 170017980 single base substitution C T downstream_gene_variant SKCA-BR 3 170017980 170017980 single base substitution C T intron_variant SKCA-BR 3 170018712 170018712 single base substitution C T downstream_gene_variant SKCA-BR 3 170018712 170018712 single base substitution C T intron_variant SKCA-BR 3 170021747 170021747 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 170021747 170021747 single base substitution G A downstream_gene_variant SKCA-BR 3 170021747 170021747 single base substitution G A exon_variant SKCA-BR 3 170027312 170027312 single base substitution C T downstream_gene_variant SKCA-BR 3 170027318 170027318 single base substitution C T downstream_gene_variant SKCA-BR 3 170027345 170027345 single base substitution C T downstream_gene_variant SKCM-US 3 169940535 169940535 single base substitution C T synonymous_variant V26V 78C>T SKCM-US 3 169953057 169953057 single base substitution T C synonymous_variant F47F 141T>C SKCM-US 3 169977775 169977775 single base substitution C T missense_variant S81L 242C>T SKCM-US 3 169988339 169988339 single base substitution C T missense_variant S194F 581C>T SKCM-US 3 169998140 169998140 single base substitution T C exon_variant SKCM-US 3 169998140 169998140 single base substitution T C synonymous_variant D277D 831T>C SKCM-US 3 169998140 169998140 single base substitution T C upstream_gene_variant SKCM-US 3 169999014 169999014 single base substitution C T exon_variant SKCM-US 3 169999014 169999014 single base substitution C T missense_variant L315F 943C>T SKCM-US 3 169999014 169999014 single base substitution C T upstream_gene_variant SKCM-US 3 169999030 169999030 single base substitution C T downstream_gene_variant SKCM-US 3 169999030 169999030 single base substitution C T exon_variant SKCM-US 3 169999030 169999030 single base substitution C T missense_variant S320F 959C>T SKCM-US 3 169999030 169999030 single base substitution C T upstream_gene_variant SKCM-US 3 169999701 169999701 single base substitution G A downstream_gene_variant SKCM-US 3 169999701 169999701 single base substitution G A exon_variant SKCM-US 3 169999701 169999701 single base substitution G A missense_variant G338R 1012G>A SKCM-US 3 169999740 169999740 single base substitution C T downstream_gene_variant SKCM-US 3 169999740 169999740 single base substitution C T exon_variant SKCM-US 3 169999740 169999740 single base substitution C T missense_variant P351S 1051C>T SKCM-US 3 170009647 170009647 single base substitution A G exon_variant SKCM-US 3 170009647 170009647 single base substitution A G synonymous_variant G403G 1209A>G SKCM-US 3 170009647 170009647 single base substitution A G upstream_gene_variant SKCM-US 3 170013699 170013699 single base substitution T A missense_variant V473D 1418T>A SKCM-US 3 170013699 170013699 single base substitution T A splice_region_variant SKCM-US 3 170020883 170020883 single base substitution C T exon_variant SKCM-US 3 170020883 170020883 single base substitution C T missense_variant P587S 1759C>T STAD-US 3 169953064 169953064 single base substitution C A missense_variant L50I 148C>A STAD-US 3 169991093 169991099 deletion of <=200bp ATCAGTC - frameshift_variant DQS204 STAD-US 3 169998128 169998128 insertion of <=200bp - A exon_variant STAD-US 3 169998128 169998128 insertion of <=200bp - A frameshift_variant L273L? STAD-US 3 169998128 169998128 insertion of <=200bp - A upstream_gene_variant STAD-US 3 169998141 169998141 single base substitution C T exon_variant STAD-US 3 169998141 169998141 single base substitution C T missense_variant R278C 832C>T STAD-US 3 169998141 169998141 single base substitution C T upstream_gene_variant STAD-US 3 169998165 169998165 insertion of <=200bp - A exon_variant STAD-US 3 169998165 169998165 insertion of <=200bp - A frameshift_variant K286K? STAD-US 3 169998165 169998165 insertion of <=200bp - A upstream_gene_variant STAD-US 3 169999697 169999697 single base substitution T C downstream_gene_variant STAD-US 3 169999697 169999697 single base substitution T C exon_variant STAD-US 3 169999697 169999697 single base substitution T C synonymous_variant N336N 1008T>C STAD-US 3 170013719 170013719 single base substitution C A exon_variant STAD-US 3 170013719 170013719 single base substitution C A missense_variant R480S 1438C>A STAD-US 3 170013723 170013723 single base substitution T A exon_variant STAD-US 3 170013723 170013723 single base substitution T A missense_variant I481K 1442T>A STAD-US 3 170020907 170020908 deletion of <=200bp TG - exon_variant STAD-US 3 170020907 170020908 deletion of <=200bp TG - frameshift_variant C595 THCA-SA 3 169988286 169988286 single base substitution C T synonymous_variant L176L 528C>T UCEC-US 3 169981188 169981188 single base substitution G A missense_variant R112H 335G>A UCEC-US 3 169993030 169993030 single base substitution T G missense_variant N220K 660T>G UCEC-US 3 169993030 169993030 single base substitution T G upstream_gene_variant UCEC-US 3 169998045 169998045 single base substitution T G exon_variant UCEC-US 3 169998045 169998045 single base substitution T G missense_variant S246A 736T>G UCEC-US 3 169998045 169998045 single base substitution T G upstream_gene_variant UCEC-US 3 170009668 170009668 single base substitution C G exon_variant UCEC-US 3 170009668 170009668 single base substitution C G synonymous_variant T410T 1230C>G UCEC-US 3 170009668 170009668 single base substitution C G upstream_gene_variant UCEC-US 3 170011256 170011256 single base substitution C T exon_variant UCEC-US 3 170011256 170011256 single base substitution C T synonymous_variant S459S 1377C>T UCEC-US 3 170015154 170015154 single base substitution G C downstream_gene_variant UCEC-US 3 170015154 170015154 single base substitution G C exon_variant UCEC-US 3 170015154 170015154 single base substitution G C synonymous_variant P520P 1560G>C UCEC-US 3 170015162 170015162 single base substitution G A downstream_gene_variant UCEC-US 3 170015162 170015162 single base substitution G A exon_variant UCEC-US 3 170015162 170015162 single base substitution G A missense_variant R523Q 1568G>A UCEC-US 3 170016826 170016826 single base substitution C A downstream_gene_variant UCEC-US 3 170016826 170016826 single base substitution C A exon_variant UCEC-US 3 170016826 170016826 single base substitution C A missense_variant S544Y 1631C>A UCEC-US 3 170016842 170016842 single base substitution G T downstream_gene_variant UCEC-US 3 170016842 170016842 single base substitution G T exon_variant UCEC-US 3 170016842 170016842 single base substitution G T missense_variant L549F 1647G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G4-6311-01 COSM1420561 c.1439G>A p.R480H Substitution - Missense 3:170295932-170295932 + TCGA-GN-A266-06 COSM3590030 c.959C>T p.S320F Substitution - Missense 3:170281242-170281242 + S06-38853-TP COSM4991878 c.652C>T p.P218S Substitution - Missense 3:170275234-170275234 + SNU-C2B COSM3204228 c.1213C>T p.R405W Substitution - Missense 3:170291863-170291863 + CSCC-7-T COSM4479146 c.229C>T p.P77S Substitution - Missense 3:170259974-170259974 + S39_pre COSM1420563 c.1448G>A p.R483H Substitution - Missense 3:170295941-170295941 + TCGA-EE-A20C-06 COSM3590029 c.831T>C p.D277D Substitution - coding silent 3:170280352-170280352 + CX-1 COSM3204193 c.108C>T p.I36I Substitution - coding silent 3:170235236-170235236 + CSCC-60-T COSM4467428 c.148C>T p.L50F Substitution - Missense 3:170235276-170235276 + TCGA-HU-A4H8-01 COSM4115165 c.1008T>C p.N336N Substitution - coding silent 3:170281909-170281909 + TCGA-AR-A0TU-01 COSM445942 c.1540G>C p.A514P Substitution - Missense 3:170297346-170297346 + 587256 COSM1222039 c.574C>T p.R192W Substitution - Missense 3:170270544-170270544 + CHC1604T COSM4787861 c.1160A>G p.D387G Substitution - Missense 3:170284553-170284553 + S00832 COSM5660923 c.1277G>T p.R426I Substitution - Missense 3:170291927-170291927 + MO_1184 COSM5572656 c.1256A>C p.Y419S Substitution - Missense 3:170291906-170291906 + TCGA-EE-A3JB-06 COSM4898554 c.1051C>T p.P351S Substitution - Missense 3:170281952-170281952 + J10_T COSM3945125 c.556G>A p.V186I Substitution - Missense 3:170270526-170270526 + TCGA-AA-A010-01 COSM284260 c.832C>T p.R278C Substitution - Missense 3:170280353-170280353 + TCGA-60-2698-01 COSM729152 c.846G>C p.M282I Substitution - Missense 3:170280367-170280367 + T1154 COSM1420557 c.819delA p.T276fs*7 Deletion - Frameshift 3:170280340-170280340 + TCGA-A6-6141-01 COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + ESCC_BICR_029T COSM5443430 c.849A>T p.K283N Substitution - Missense 3:170280370-170280370 + TCGA-22-5491-01 COSM729149 c.1642G>T p.G548C Substitution - Missense 3:170299049-170299049 + pfg005T COSM4763521 c.478C>T p.R160* Substitution - Nonsense 3:170270448-170270448 + CSCC-7-T COSM4558826 c.781G>A p.G261R Substitution - Missense 3:170280302-170280302 + TCGA-EK-A2RC-01 COSM4848579 c.862G>C p.E288Q Substitution - Missense 3:170280383-170280383 + TCGA-D1-A17Q-01 COSM1041065 c.1631C>A p.S544Y Substitution - Missense 3:170299038-170299038 + S39_post COSM1420563 c.1448G>A p.R483H Substitution - Missense 3:170295941-170295941 + TCGA-CZ-5470-01 COSM479701 c.894G>T p.W298C Substitution - Missense 3:170281177-170281177 + AOCS-137-3-7 COSM4149659 c.1292G>T p.G431V Substitution - Missense 3:170293383-170293383 + HT29 COSM3204193 c.108C>T p.I36I Substitution - coding silent 3:170235236-170235236 + TCGA-18-3414-01 COSM729151 c.1119G>A p.G373G Substitution - coding silent 3:170284512-170284512 + SCC-25 COSM3915347 c.581C>T p.S194F Substitution - Missense 3:170270551-170270551 + 19 COSM5746209 c.1022T>C p.M341T Substitution - Missense 3:170281923-170281923 + TCGA-EE-A182-06 COSM3915347 c.581C>T p.S194F Substitution - Missense 3:170270551-170270551 + TCGA-FW-A3R5-06 COSM3915348 c.1759C>T p.P587S Substitution - Missense 3:170303095-170303095 + TCGA-G4-6586-01 COSM1420563 c.1448G>A p.R483H Substitution - Missense 3:170295941-170295941 + T3658 COSM1420557 c.819delA p.T276fs*7 Deletion - Frameshift 3:170280340-170280340 + T2643 COSM4717748 c.418G>T p.G140C Substitution - Missense 3:170267968-170267968 + T98G COSM3204198 c.164G>A p.R55Q Substitution - Missense 3:170235292-170235292 + LUAD-B00523 COSM332013 c.111G>T p.M37I Substitution - Missense 3:170235239-170235239 + TCGA-F5-6814-01 COSM3427315 c.1736T>G p.F579C Substitution - Missense 3:170303072-170303072 + ESO-043 COSM1263085 c.1438C>A p.R480S Substitution - Missense 3:170295931-170295931 + TCGA-EI-6882-01 COSM1420561 c.1439G>A p.R480H Substitution - Missense 3:170295932-170295932 + 16678 COSM48698 c.1289A>G p.Y430C Substitution - Missense 3:170291939-170291939 + YUSUBA COSM1693795 c.943C>T p.L315F Substitution - Missense 3:170281226-170281226 + BICR_22 COSM3915347 c.581C>T p.S194F Substitution - Missense 3:170270551-170270551 + BD6T COSM5498870 c.1644T>G p.G548G Substitution - coding silent 3:170299051-170299051 + J76_T COSM3945127 c.1457C>A p.S486Y Substitution - Missense 3:170295950-170295950 + TCGA-A5-A0GB-01 COSM208049 c.335G>A p.R112H Substitution - Missense 3:170263400-170263400 + TCGA-BS-A0UV-01 COSM1041053 c.660T>G p.N220K Substitution - Missense 3:170275242-170275242 + S03-26121-TP COSM4991880 c.1426G>A p.E476K Substitution - Missense 3:170295919-170295919 + PCSI_0050_Pa_X COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + TCGA-D1-A17R-01 COSM1041049 c.545G>A p.C182Y Substitution - Missense 3:170270515-170270515 + S02404 COSM5700828 c.111G>C p.M37I Substitution - Missense 3:170235239-170235239 + 587278 COSM1222038 c.1192G>A p.G398S Substitution - Missense 3:170284585-170284585 + TCGA-AA-3510-01 COSM1420558 c.1215G>A p.R405R Substitution - coding silent 3:170291865-170291865 + OSCC-GB_01160111 COSM582649 c.1188C>A p.D396E Substitution - Missense 3:170284581-170284581 + S06-38853-TP COSM4991879 c.653C>T p.P218L Substitution - Missense 3:170275235-170275235 + PR-1783 COSM219988 c.1511G>A p.R504Q Substitution - Missense 3:170297317-170297317 + TCGA-D1-A17M-01 COSM1041051 c.608T>C p.M203T Substitution - Missense 3:170273302-170273302 + 113368 COSM95079 c.1387G>C p.D463H Substitution - Missense 3:170293478-170293478 + TCGA-FS-A4F5-06 COSM3590026 c.78C>T p.V26V Substitution - coding silent 3:170222747-170222747 + TCGA-CG-4442-01 COSM4115166 c.1442T>A p.I481K Substitution - Missense 3:170295935-170295935 + ME002T COSM222010 c.1726C>T p.Q576* Substitution - Nonsense 3:170303062-170303062 + TCGA-CM-4746-01 COSM1420556 c.818_819insA p.T276fs*16 Insertion - Frameshift 3:170280339-170280340 + TCGA-MY-A5BD-01 COSM4855713 c.880G>A p.E294K Substitution - Missense 3:170280401-170280401 + AOCS-137-1-X COSM4149659 c.1292G>T p.G431V Substitution - Missense 3:170293383-170293383 + HCT116 COSM1420556 c.818_819insA p.T276fs*16 Insertion - Frameshift 3:170280339-170280340 + T368 COSM4717750 c.862G>T p.E288* Substitution - Nonsense 3:170280383-170280383 + TCGA-CG-4440-01 COSM1263085 c.1438C>A p.R480S Substitution - Missense 3:170295931-170295931 + TCGA-DA-A1HY-06 COSM3590032 c.1209A>G p.G403G Substitution - coding silent 3:170291859-170291859 + LUAD-E00918 COSM365259 c.948T>A p.V316V Substitution - coding silent 3:170281231-170281231 + TCGA-JW-A5VL-01 COSM4846614 c.1376C>T p.S459F Substitution - Missense 3:170293467-170293467 + TCGA-BS-A0U8-01 COSM1041057 c.1230C>G p.T410T Substitution - coding silent 3:170291880-170291880 + 06-P036 COSM4584102 c.963C>T p.C321C Substitution - coding silent 3:170281246-170281246 + Pat_04_A COSM5863925 c.1273T>A p.L425I Substitution - Missense 3:170291923-170291923 + T3306 COSM4717749 c.698A>G p.E233G Substitution - Missense 3:170275280-170275280 + TCGA-EK-A3GK-01 COSM4854388 c.318C>G p.F106L Substitution - Missense 3:170263383-170263383 + TCGA-AP-A056-01 COSM1041055 c.736T>G p.S246A Substitution - Missense 3:170280257-170280257 + HCC2998 COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + PD4120a COSM163735 c.361G>C p.D121H Substitution - Missense 3:170263426-170263426 + TCGA-Q1-A73O-01 COSM4834343 c.372C>G p.I124M Substitution - Missense 3:170267922-170267922 + HCC13 COSM3660338 c.976A>G p.S326G Substitution - Missense 3:170281259-170281259 + TCGA-EE-A2MD-06 COSM3590033 c.1418T>A p.V473D Substitution - Missense 3:170295911-170295911 + 148632 COSM1644911 c.1188C>G p.D396E Substitution - Missense 3:170284581-170284581 + WA16 COSM238020 c.573G>A p.G191G Substitution - coding silent 3:170270543-170270543 + DN110E9 COSM5962620 c.220G>A p.E74K Substitution - Missense 3:170235348-170235348 + TCGA-F5-6814-01 COSM3427313 c.1049T>G p.L350R Substitution - Missense 3:170281950-170281950 + TCGA-A6-6780-01 COSM1420552 c.433G>A p.A145T Substitution - Missense 3:170267983-170267983 + 534 COSM5612340 c.294T>C p.D98D Substitution - coding silent 3:170260039-170260039 + 575 COSM3660338 c.976A>G p.S326G Substitution - Missense 3:170281259-170281259 + T2197 COSM1420557 c.819delA p.T276fs*7 Deletion - Frameshift 3:170280340-170280340 + WSU-HN6 COSM3915347 c.581C>T p.S194F Substitution - Missense 3:170270551-170270551 + TCGA-CM-6171-01 COSM1420555 c.815G>C p.R272P Substitution - Missense 3:170280336-170280336 + ESCC_BICR_059T COSM5432478 c.1657G>A p.D553N Substitution - Missense 3:170299064-170299064 + HCC130T COSM1617189 c.1203+3G>T p.? Unknown 3:170284599-170284599 + pfg068T COSM1222039 c.574C>T p.R192W Substitution - Missense 3:170270544-170270544 + 93VU147T COSM4590745 c.1522C>A p.H508N Substitution - Missense 3:170297328-170297328 + TCGA-F5-6814-01 COSM3427314 c.1211T>C p.L404S Substitution - Missense 3:170291861-170291861 + TCGA-EE-A2GI-06 COSM3590028 c.242C>T p.S81L Substitution - Missense 3:170259987-170259987 + TCGA-22-4613-01 COSM729153 c.801A>T p.K267N Substitution - Missense 3:170280322-170280322 + CSCC-62-T COSM4524355 c.1267G>A p.E423K Substitution - Missense 3:170291917-170291917 + ZZUFHECRKL-G038T COSM5442516 c.694G>A p.E232K Substitution - Missense 3:170275276-170275276 + TCGA-EE-A29M-06 COSM3590031 c.1012G>A p.G338R Substitution - Missense 3:170281913-170281913 + TCGA-DA-A1HW-06 COSM1693795 c.943C>T p.L315F Substitution - Missense 3:170281226-170281226 + LIM2551 COSM4644511 c.555C>T p.L185L Substitution - coding silent 3:170270525-170270525 + TCGA-BR-6452-01 COSM4115164 c.148C>A p.L50I Substitution - Missense 3:170235276-170235276 + TCGA-A4-A5XZ-01 COSM3992858 c.1153T>C p.L385L Substitution - coding silent 3:170284546-170284546 + RK042_C COSM1632975 c.1100A>G p.N367S Substitution - Missense 3:170284493-170284493 + TCGA-JW-A5VL-01 COSM4847613 c.157G>C p.E53Q Substitution - Missense 3:170235285-170235285 + HN_62854 COSM125590 c.1076C>G p.S359C Substitution - Missense 3:170284469-170284469 + TCGA-34-2596-01 COSM729150 c.1279G>A p.G427R Substitution - Missense 3:170291929-170291929 + HCC130 COSM1617189 c.1203+3G>T p.? Unknown 3:170284599-170284599 + 107086 COSM95078 c.1048C>T p.L350F Substitution - Missense 3:170281949-170281949 + HCC13T COSM3660338 c.976A>G p.S326G Substitution - Missense 3:170281259-170281259 + CSCC-40-T COSM4569716 c.196T>A p.F66I Substitution - Missense 3:170235324-170235324 + HCC2998 COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + TCGA-BS-A0UV-01 COSM1041063 c.1568G>A p.R523Q Substitution - Missense 3:170297374-170297374 + TCGA-CG-4305-01 COSM284260 c.832C>T p.R278C Substitution - Missense 3:170280353-170280353 + PAPNNX COSM5005089 c.833G>A p.R278H Substitution - Missense 3:170280354-170280354 + TCGA-D5-6540-01 COSM1420560 c.1375T>C p.S459P Substitution - Missense 3:170293466-170293466 + TCGA-13-1487-01 COSM117865 c.1008T>G p.N336K Substitution - Missense 3:170281909-170281909 + TCGA-22-4604-01 COSM729148 c.1703+2T>G p.? Unknown 3:170299112-170299112 + TCGA-D1-A17R-01 COSM1041061 c.1560G>C p.P520P Substitution - coding silent 3:170297366-170297366 + TCGA-D5-5540-01 COSM1420549 c.61G>T p.D21Y Substitution - Missense 3:170222730-170222730 + TCGA-BQ-7053-01 COSM3992857 c.23G>A p.S8N Substitution - Missense 3:170222692-170222692 + PT52 COSM284260 c.832C>T p.R278C Substitution - Missense 3:170280353-170280353 + 113368 COSM95079 c.1387G>C p.D463H Substitution - Missense 3:170293478-170293478 + TCGA-EB-A3Y7-01 COSM3590027 c.141T>C p.F47F Substitution - coding silent 3:170235269-170235269 + TCGA-G2-A3VY-01 COSM3774714 c.1772C>G p.S591C Substitution - Missense 3:170303108-170303108 + 2293776 COSM4607822 c.880G>T p.E294* Substitution - Nonsense 3:170280401-170280401 + LB2518-MEL COSM21110 c.353C>T p.P118L Substitution - Missense 3:170263418-170263418 + 8069334 COSM4388402 c.1586T>G p.M529R Substitution - Missense 3:170297392-170297392 + LB2518-MEL COSM21110 c.353C>T p.P118L Substitution - Missense 3:170263418-170263418 + CHC1604T COSM4787861 c.1160A>G p.D387G Substitution - Missense 3:170284553-170284553 + RK042_C01 COSM1632975 c.1100A>G p.N367S Substitution - Missense 3:170284493-170284493 + SNU-C2B COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + CLL072 COSM1291649 c.334C>T p.R112C Substitution - Missense 3:170263399-170263399 + WA16 COSM241253 c.826_827insAA p.T276fs*8 Insertion - Frameshift 3:170280347-170280348 + HT115 COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + YULAN COSM1693794 c.535C>T p.H179Y Substitution - Missense 3:170270505-170270505 + TCGA-AP-A0LM-01 COSM1041059 c.1377C>T p.S459S Substitution - coding silent 3:170293468-170293468 + OSCC-GB_01220111 COSM5955056 c.1132G>A p.D378N Substitution - Missense 3:170284525-170284525 + TCGA-AA-3663-01 COSM1420553 c.706-1G>T p.? Unknown 3:170280226-170280226 + TCGA-AZ-4315-01 COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + J90_T COSM3945126 c.1400A>G p.E467G Substitution - Missense 3:170293491-170293491 + TCGA-B5-A11E-01 COSM1041067 c.1647G>T p.L549F Substitution - Missense 3:170299054-170299054 + TCGA-13-1407-01 COSM78349 c.1438C>T p.R480C Substitution - Missense 3:170295931-170295931 + pfg016T COSM1420557 c.819delA p.T276fs*7 Deletion - Frameshift 3:170280340-170280340 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.478162;Hs.478199 3q26.3 600539

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1788+823A>C 3 170021735 HC - A Frameshift p.T276Nfs*16 c.826dupA 3 169998128 BLCA - A Frameshift p.T276Nfs*16 c.826dupA 3 169998128 STAD A - Frameshift p.T276Qfs*7 c.826delA 3 169998128 STAD AG - Frameshift p.G16Rfs*26 c.45_46delAG 3 169940502 RCCC A G IntronicSNV . c.224-11737A>G 3 169966020 CLL A G Missense p.N367S c.1100A>G 3 170002281 HC A G Missense p.Y430C c.1289A>G 3 170009727 LUAD A G Synonymous p.G403G c.1209A>G 3 170009647 CM A T Missense p.K267N c.801A>T 3 169998110 LUSC A T Missense p.N383I c.1148A>T 3 170002329 HNSC A T Missense p.S363C c.1087A>T 3 170002268 LUAD C A Missense p.D396E c.1188C>A 3 170002369 LUAD C A Missense p.N173K c.519C>A 3 169988277 CM C A Missense p.Q464K c.1390C>A 3 170011269 LUAD C A Missense p.R480S c.1438C>A 3 170013719 ESCA C A Missense p.R480S c.1438C>A 3 170013719 STAD C A Synonymous p.R166R c.498C>A 3 169988256 CM CC TT Missense p.S46F c.137_138delinsTT 3 169953053 CM C G Missense p.S359C c.1076C>G 3 170002257 HNSC C G Synonymous p.T410T c.1230C>G 3 170009668 UCEC C T Missense p.A355V c.1064C>T 3 169999753 CM C T Missense p.L315F c.943C>T 3 169999014 CM C T Missense p.P351S c.1051C>T 3 169999740 CM C T Missense p.R112C c.334C>T 3 169981187 CLL C T Missense p.R278C c.832C>T 3 169998141 STAD C T Missense p.R480C c.1438C>T 3 170013719 OV C T Missense p.S194F c.581C>T 3 169988339 CM C T Missense p.S81L c.242C>T 3 169977775 CM C T Nonsense p.Q576* c.1726C>T 3 170020850 CM C T Synonymous p.S123S c.369C>T 3 169985707 CM G A Missense p.G338R c.1012G>A 3 169999701 CM G A Missense p.G427R c.1279G>A 3 170009717 LUSC G A Missense p.M237I c.711G>A 3 169998020 CM G A Missense p.R112H c.335G>A 3 169981188 UCEC G A Missense p.S433N c.1298G>A 3 170011177 CM G A Synonymous p.G373G c.1119G>A 3 170002300 LUSC G C Missense p.A514P c.1540G>C 3 170015134 BRCA G C Missense p.D121H c.361G>C 3 169981214 BRCA G C Missense p.D463H c.1387G>C 3 170011266 SCLC G C Missense p.E559Q c.1675G>C 3 170016870 LUAD G C Missense p.G440A c.1319G>C 3 170011198 HNSC G C Synonymous p.P520P c.1560G>C 3 170015154 UCEC G T Missense p.G548C c.1642G>T 3 170016837 LUSC G T Nonsense p.G75* c.223G>T 3 169953139 LUAD T A Missense p.V473D c.1418T>A 3 170013699 CM T A Synonymous p.L135L c.405T>A 3 169985743 CM T C Synonymous p.D277D c.831T>C 3 169998140 CM T G Missense p.N336K c.1008T>G 3 169999697 OV T G SpliceDonorSNV . c.1703+2T>G 3 170016900 LUSC