Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 6 43555015 43555015 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr6:43555015G>A c.279G>A c.(277-279)cgG>cgA p.R93R BLCA 6 43555211 43555211 + Missense_Mutation SNP G G C TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr6:43555211G>C c.475G>C c.(475-477)Gag>Cag p.E159Q BLCA 6 43565432 43565432 + Splice_Site SNP G G T TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr6:43565432G>T c.e5-1 BLCA 6 43565467 43565467 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:43565467C>T c.525C>T c.(523-525)ctC>ctT p.L175L BLCA 6 43571701 43571701 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr6:43571701C>T c.837C>T c.(835-837)acC>acT p.T279T BLCA 6 43578337 43578337 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr6:43578337G>A c.1121G>A c.(1120-1122)gGa>gAa p.G374E BLCA 6 43578408 43578408 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr6:43578408G>T c.1192G>T c.(1192-1194)Gat>Tat p.D398Y BLCA 6 43578415 43578439 + Frame_Shift_Del DEL TTACTGTCATCAAGAACTGTAATAC TTACTGTCATCAAGAACTGTAATAC - TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr6:43578415_43578439delTTACTGTCATCAAGAACTGTAATAC c.1199_1223delTTACTGTCATCAAGAACTGTAATAC c.(1198-1224)tttactgtcatcaagaactgtaatactfs p.FTVIKNCNT400fs BLCA 6 43581462 43581462 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr6:43581462C>G c.1310C>G c.(1309-1311)tCt>tGt p.S437C BLCA 6 43581679 43581679 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr6:43581679G>C c.1527G>C c.(1525-1527)atG>atC p.M509I BLCA 6 43581702 43581702 + Nonsense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr6:43581702C>G c.1550C>G c.(1549-1551)tCa>tGa p.S517* BLCA 6 43581801 43581801 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr6:43581801C>G c.1649C>G c.(1648-1650)tCt>tGt p.S550C BLCA 6 43582247 43582247 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr6:43582247G>C c.2095G>C c.(2095-2097)Gag>Cag p.E699Q BRCA 6 43550143 43550143 + Missense_Mutation SNP G G C TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr6:43550143G>C c.87G>C c.(85-87)ttG>ttC p.L29F BRCA 6 43571740 43571740 + Silent SNP G G A TCGA-AO-A12A-01A-21D-A10Y-09 TCGA-AO-A12A-10A-01D-A110-09 g.chr6:43571740G>A c.876G>A c.(874-876)gaG>gaA p.E292E BRCA 6 43578461 43578461 + Splice_Site SNP G G T TCGA-A2-A04R-01A-41D-A117-09 TCGA-A2-A04R-10B-01D-A10G-09 g.chr6:43578461G>T c.e10+1 BRCA 6 43581864 43581864 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr6:43581864A>G c.1712A>G c.(1711-1713)tAt>tGt p.Y571C CHOL 6 43581551 43581551 + Missense_Mutation SNP G G T TCGA-3X-AAV9-01A-72D-A417-09 TCGA-3X-AAV9-10A-01D-A41A-09 g.chr6:43581551G>T c.1399G>T c.(1399-1401)Ggc>Tgc p.G467C COAD 6 43550094 43550094 + Missense_Mutation SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr6:43550094A>G c.38A>G c.(37-39)gAc>gGc p.D13G COAD 6 43550759 43550759 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:43550759T>G c.153T>G c.(151-153)agT>agG p.S51R COAD 6 43555193 43555193 + Missense_Mutation SNP G G T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr6:43555193G>T c.457G>T c.(457-459)Ggc>Tgc p.G153C COAD 6 43565442 43565442 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr6:43565442G>A c.500G>A c.(499-501)cGa>cAa p.R167Q COAD 6 43565465 43565465 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr6:43565465C>T c.523C>T c.(523-525)Ctc>Ttc p.L175F COAD 6 43565525 43565525 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:43565525G>A c.583G>A c.(583-585)Gtg>Atg p.V195M COAD 6 43565575 43565575 + Silent SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr6:43565575G>A c.633G>A c.(631-633)caG>caA p.Q211Q COAD 6 43565581 43565581 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:43565581A>G c.639A>G c.(637-639)tcA>tcG p.S213S COAD 6 43578345 43578345 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr6:43578345C>T c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C COAD 6 43578363 43578363 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:43578363C>T c.1147C>T c.(1147-1149)Cgc>Tgc p.R383C COAD 6 43578442 43578442 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:43578442C>A c.1226C>A c.(1225-1227)tCt>tAt p.S409Y COAD 6 43581745 43581745 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:43581745C>A c.1593C>A c.(1591-1593)ttC>ttA p.F531L COAD 6 43581803 43581803 + Missense_Mutation SNP T T C TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr6:43581803T>C c.1651T>C c.(1651-1653)Tcc>Ccc p.S551P COAD 6 43581826 43581826 + Silent SNP C C A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr6:43581826C>A c.1674C>A c.(1672-1674)tcC>tcA p.S558S COAD 6 43581890 43581890 + Missense_Mutation SNP G G T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr6:43581890G>T c.1738G>T c.(1738-1740)Ggg>Tgg p.G580W COAD 6 43582004 43582004 + Nonsense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr6:43582004C>T c.1852C>T c.(1852-1854)Cag>Tag p.Q618* COADREAD 6 43550094 43550094 + Missense_Mutation SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr6:43550094A>G c.38A>G c.(37-39)gAc>gGc p.D13G COADREAD 6 43550100 43550100 + Missense_Mutation SNP A A G TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr6:43550100A>G c.44A>G c.(43-45)gAc>gGc p.D15G COADREAD 6 43550759 43550759 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:43550759T>G c.153T>G c.(151-153)agT>agG p.S51R COADREAD 6 43555193 43555193 + Missense_Mutation SNP G G T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr6:43555193G>T c.457G>T c.(457-459)Ggc>Tgc p.G153C COADREAD 6 43555194 43555194 + Missense_Mutation SNP G G T TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr6:43555194G>T c.458G>T c.(457-459)gGc>gTc p.G153V COADREAD 6 43565442 43565442 + Missense_Mutation SNP G G A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr6:43565442G>A c.500G>A c.(499-501)cGa>cAa p.R167Q COADREAD 6 43565465 43565465 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr6:43565465C>T c.523C>T c.(523-525)Ctc>Ttc p.L175F COADREAD 6 43565525 43565525 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr6:43565525G>A c.583G>A c.(583-585)Gtg>Atg p.V195M COADREAD 6 43565575 43565575 + Silent SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr6:43565575G>A c.633G>A c.(631-633)caG>caA p.Q211Q COADREAD 6 43565581 43565581 + Silent SNP A A G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr6:43565581A>G c.639A>G c.(637-639)tcA>tcG p.S213S COADREAD 6 43578345 43578345 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr6:43578345C>T c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C COADREAD 6 43578363 43578363 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr6:43578363C>T c.1147C>T c.(1147-1149)Cgc>Tgc p.R383C COADREAD 6 43578442 43578442 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:43578442C>A c.1226C>A c.(1225-1227)tCt>tAt p.S409Y COADREAD 6 43581501 43581501 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:43581501C>A c.1349C>A c.(1348-1350)tCt>tAt p.S450Y COADREAD 6 43581745 43581745 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:43581745C>A c.1593C>A c.(1591-1593)ttC>ttA p.F531L COADREAD 6 43581803 43581803 + Missense_Mutation SNP T T C TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr6:43581803T>C c.1651T>C c.(1651-1653)Tcc>Ccc p.S551P COADREAD 6 43581826 43581826 + Silent SNP C C A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr6:43581826C>A c.1674C>A c.(1672-1674)tcC>tcA p.S558S COADREAD 6 43581890 43581890 + Missense_Mutation SNP G G T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr6:43581890G>T c.1738G>T c.(1738-1740)Ggg>Tgg p.G580W COADREAD 6 43582004 43582004 + Nonsense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr6:43582004C>T c.1852C>T c.(1852-1854)Cag>Tag p.Q618* ESCA 6 43565542 43565542 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 g.chr6:43565542G>A c.600G>A c.(598-600)atG>atA p.M200I ESCA 6 43582040 43582040 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr6:43582040G>A c.1888G>A c.(1888-1890)Gag>Aag p.E630K GBMLGG 6 43573029 43573029 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:43573029G>T c.1047G>T c.(1045-1047)gaG>gaT p.E349D HNSC 6 43581625 43581625 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 g.chr6:43581625G>C c.1473G>C c.(1471-1473)caG>caC p.Q491H HNSC 6 43581937 43581937 + Missense_Mutation SNP G G T TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr6:43581937G>T c.1785G>T c.(1783-1785)atG>atT p.M595I HNSC 6 43582058 43582058 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr6:43582058G>A c.1906G>A c.(1906-1908)Gag>Aag p.E636K KIPAN 6 43550779 43550779 + Missense_Mutation SNP G G T TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr6:43550779G>T c.173G>T c.(172-174)gGa>gTa p.G58V KIPAN 6 43571729 43571729 + Missense_Mutation SNP C C A TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr6:43571729C>A c.865C>A c.(865-867)Cat>Aat p.H289N KIPAN 6 43581424 43581425 + In_Frame_Ins INS - - TGT TCGA-CW-5589-01A-01D-1534-10 TCGA-CW-5589-11A-01D-1535-10 g.chr6:43581424_43581425insTGT c.1272_1273insTGT c.(1273-1275)tgt>TGTtgt p.425_425C>CC KIRC 6 43550779 43550779 + Missense_Mutation SNP G G T TCGA-B0-4837-01A-01D-1373-10 TCGA-B0-4837-11A-01D-1373-10 g.chr6:43550779G>T c.173G>T c.(172-174)gGa>gTa p.G58V KIRC 6 43571729 43571729 + Missense_Mutation SNP C C A TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr6:43571729C>A c.865C>A c.(865-867)Cat>Aat p.H289N KIRC 6 43581424 43581425 + In_Frame_Ins INS - - TGT TCGA-CW-5589-01A-01D-1534-10 TCGA-CW-5589-11A-01D-1535-10 g.chr6:43581424_43581425insTGT c.1272_1273insTGT c.(1273-1275)tgt>TGTtgt p.425_425C>CC LGG 6 43573029 43573029 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:43573029G>T c.1047G>T c.(1045-1047)gaG>gaT p.E349D LUAD 6 43550832 43550832 + Frame_Shift_Del DEL C C - TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr6:43550832delC c.226delC c.(226-228)ctafs p.L77fs PAAD 6 43565513 43565513 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:43565513A>G c.571A>G c.(571-573)Acc>Gcc p.T191A READ 6 43550100 43550100 + Missense_Mutation SNP A A G TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr6:43550100A>G c.44A>G c.(43-45)gAc>gGc p.D15G READ 6 43555194 43555194 + Missense_Mutation SNP G G T TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr6:43555194G>T c.458G>T c.(457-459)gGc>gTc p.G153V READ 6 43581501 43581501 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:43581501C>A c.1349C>A c.(1348-1350)tCt>tAt p.S450Y SKCM 6 43550847 43550847 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:43550847C>T c.241C>T c.(241-243)Cgt>Tgt p.R81C SKCM 6 43565573 43565573 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:43565573C>T c.631C>T c.(631-633)Cag>Tag p.Q211* SKCM 6 43578327 43578327 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:43578327C>T c.1111C>T c.(1111-1113)Cgt>Tgt p.R371C SKCM 6 43581767 43581767 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:43581767C>T c.1615C>T c.(1615-1617)Cta>Tta p.L539L SKCM 6 43582080 43582080 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr6:43582080C>T c.1928C>T c.(1927-1929)cCg>cTg p.P643L SKCM 6 43582291 43582291 + Silent SNP T T C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr6:43582291T>C c.2139T>C c.(2137-2139)caT>caC p.H713H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 6 43581890 43581890 single base substitution G C 3_prime_UTR_variant BLCA-CN 6 43581890 43581890 single base substitution G C missense_variant G518R 1552G>C BLCA-CN 6 43581890 43581890 single base substitution G C missense_variant G580R 1738G>C BLCA-US 6 43555015 43555015 single base substitution G A synonymous_variant R31R 93G>A BLCA-US 6 43555015 43555015 single base substitution G A synonymous_variant R93R 279G>A BLCA-US 6 43555211 43555211 single base substitution G C downstream_gene_variant BLCA-US 6 43555211 43555211 single base substitution G C missense_variant E159Q 475G>C BLCA-US 6 43555211 43555211 single base substitution G C missense_variant E97Q 289G>C BLCA-US 6 43571701 43571701 single base substitution C T synonymous_variant T217T 651C>T BLCA-US 6 43571701 43571701 single base substitution C T synonymous_variant T279T 837C>T BLCA-US 6 43578408 43578408 single base substitution G T missense_variant D336Y 1006G>T BLCA-US 6 43578408 43578408 single base substitution G T missense_variant D398Y 1192G>T BRCA-EU 6 43539390 43539390 single base substitution A G upstream_gene_variant BRCA-EU 6 43540137 43540137 single base substitution C G upstream_gene_variant BRCA-EU 6 43540925 43540925 single base substitution C G upstream_gene_variant BRCA-EU 6 43541011 43541011 single base substitution A G upstream_gene_variant BRCA-EU 6 43542191 43542191 single base substitution C T upstream_gene_variant BRCA-EU 6 43543619 43543619 single base substitution G C upstream_gene_variant BRCA-EU 6 43544477 43544477 single base substitution C G intron_variant BRCA-EU 6 43546544 43546544 single base substitution T A intron_variant BRCA-EU 6 43546984 43546984 single base substitution C T intron_variant BRCA-EU 6 43547036 43547036 single base substitution G A intron_variant BRCA-EU 6 43547395 43547395 single base substitution G A intron_variant BRCA-EU 6 43548446 43548446 single base substitution C T intron_variant BRCA-EU 6 43548688 43548688 single base substitution C A intron_variant BRCA-EU 6 43549304 43549304 single base substitution C T intron_variant BRCA-EU 6 43552326 43552326 single base substitution C T intron_variant BRCA-EU 6 43552343 43552343 single base substitution C T intron_variant BRCA-EU 6 43553499 43553499 single base substitution C T intron_variant BRCA-EU 6 43553659 43553659 single base substitution G A intron_variant BRCA-EU 6 43555632 43555632 single base substitution C T downstream_gene_variant BRCA-EU 6 43555632 43555632 single base substitution C T intron_variant BRCA-EU 6 43555969 43555969 single base substitution G C downstream_gene_variant BRCA-EU 6 43555969 43555969 single base substitution G C intron_variant BRCA-EU 6 43557780 43557780 single base substitution G C downstream_gene_variant BRCA-EU 6 43557780 43557780 single base substitution G C intron_variant BRCA-EU 6 43559793 43559793 single base substitution C T downstream_gene_variant BRCA-EU 6 43559793 43559793 single base substitution C T intron_variant BRCA-EU 6 43562113 43562113 single base substitution A T intron_variant BRCA-EU 6 43562393 43562393 single base substitution G A intron_variant BRCA-EU 6 43563934 43563934 single base substitution G A intron_variant BRCA-EU 6 43564282 43564282 single base substitution G A intron_variant BRCA-EU 6 43566146 43566146 single base substitution C T intron_variant BRCA-EU 6 43567375 43567375 single base substitution T G intron_variant BRCA-EU 6 43568248 43568248 single base substitution C G intron_variant BRCA-EU 6 43568363 43568363 single base substitution C T intron_variant BRCA-EU 6 43568525 43568525 single base substitution G A intron_variant BRCA-EU 6 43569367 43569367 deletion of <=200bp A - intron_variant BRCA-EU 6 43571269 43571269 single base substitution C G intron_variant BRCA-EU 6 43572361 43572361 single base substitution A G synonymous_variant L236L 708A>G BRCA-EU 6 43572361 43572361 single base substitution A G synonymous_variant L298L 894A>G BRCA-EU 6 43572402 43572402 single base substitution C T missense_variant P250L 749C>T BRCA-EU 6 43572402 43572402 single base substitution C T missense_variant P312L 935C>T BRCA-EU 6 43572574 43572574 single base substitution A G intron_variant BRCA-EU 6 43572628 43572628 single base substitution A T intron_variant BRCA-EU 6 43573054 43573054 single base substitution G A missense_variant D296N 886G>A BRCA-EU 6 43573054 43573054 single base substitution G A missense_variant D358N 1072G>A BRCA-EU 6 43573461 43573461 deletion of <=200bp T - intron_variant BRCA-EU 6 43574014 43574026 deletion of <=200bp TCCTTTTACTTAC - intron_variant BRCA-EU 6 43574935 43574935 single base substitution G A intron_variant BRCA-EU 6 43574979 43574979 single base substitution G A intron_variant BRCA-EU 6 43574988 43574988 single base substitution C T intron_variant BRCA-EU 6 43576030 43576030 single base substitution A G intron_variant BRCA-EU 6 43576763 43576763 single base substitution G C intron_variant BRCA-EU 6 43579429 43579443 deletion of <=200bp TATTACTTATCTAAA - intron_variant BRCA-EU 6 43579602 43579602 single base substitution A G intron_variant BRCA-EU 6 43579687 43579687 single base substitution G T intron_variant BRCA-EU 6 43579783 43579783 single base substitution A G intron_variant BRCA-EU 6 43579883 43579883 single base substitution C G intron_variant BRCA-EU 6 43579979 43579979 single base substitution A C intron_variant BRCA-EU 6 43580481 43580481 single base substitution T C intron_variant BRCA-EU 6 43581987 43581987 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 43581987 43581987 single base substitution C G missense_variant S550C 1649C>G BRCA-EU 6 43581987 43581987 single base substitution C G missense_variant S612C 1835C>G BRCA-EU 6 43582247 43582247 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 43582247 43582247 single base substitution G C missense_variant E637Q 1909G>C BRCA-EU 6 43582247 43582247 single base substitution G C missense_variant E699Q 2095G>C BRCA-EU 6 43583638 43583638 single base substitution G A downstream_gene_variant BRCA-EU 6 43583638 43583638 single base substitution G A intron_variant BRCA-EU 6 43584489 43584489 single base substitution G A downstream_gene_variant BRCA-EU 6 43584489 43584489 single base substitution G A intron_variant BRCA-EU 6 43584597 43584597 single base substitution G C downstream_gene_variant BRCA-EU 6 43584597 43584597 single base substitution G C intron_variant BRCA-EU 6 43585123 43585123 single base substitution G T downstream_gene_variant BRCA-EU 6 43585123 43585123 single base substitution G T intron_variant BRCA-EU 6 43585891 43585891 deletion of <=200bp G - downstream_gene_variant BRCA-EU 6 43585891 43585891 deletion of <=200bp G - intron_variant BRCA-EU 6 43585892 43585894 deletion of <=200bp TAT - downstream_gene_variant BRCA-EU 6 43585892 43585894 deletion of <=200bp TAT - intron_variant BRCA-EU 6 43586000 43586000 single base substitution C T downstream_gene_variant BRCA-EU 6 43586000 43586000 single base substitution C T intron_variant BRCA-EU 6 43587029 43587029 single base substitution G A downstream_gene_variant BRCA-EU 6 43587539 43587539 single base substitution C T downstream_gene_variant BRCA-EU 6 43587594 43587594 single base substitution G C downstream_gene_variant BRCA-EU 6 43587670 43587670 single base substitution C T downstream_gene_variant BRCA-EU 6 43588111 43588111 single base substitution G C downstream_gene_variant BRCA-EU 6 43588291 43588292 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 6 43588346 43588346 single base substitution G A downstream_gene_variant BRCA-EU 6 43588564 43588564 single base substitution C T downstream_gene_variant BRCA-EU 6 43588838 43588838 single base substitution C G downstream_gene_variant BRCA-EU 6 43589245 43589245 single base substitution C T downstream_gene_variant BRCA-EU 6 43589949 43589949 single base substitution T G downstream_gene_variant BRCA-FR 6 43543619 43543619 single base substitution G C upstream_gene_variant BRCA-FR 6 43547395 43547395 single base substitution G A intron_variant BRCA-FR 6 43552343 43552343 single base substitution C T intron_variant BRCA-FR 6 43559793 43559793 single base substitution C T downstream_gene_variant BRCA-FR 6 43559793 43559793 single base substitution C T intron_variant BRCA-FR 6 43563934 43563934 single base substitution G A intron_variant BRCA-FR 6 43572402 43572402 single base substitution C T missense_variant P250L 749C>T BRCA-FR 6 43572402 43572402 single base substitution C T missense_variant P312L 935C>T BRCA-FR 6 43572628 43572628 single base substitution A T intron_variant BRCA-FR 6 43574979 43574979 single base substitution G A intron_variant BRCA-FR 6 43577986 43577986 single base substitution G C intron_variant BRCA-FR 6 43579883 43579883 single base substitution C G intron_variant BRCA-FR 6 43580061 43580061 single base substitution G A intron_variant BRCA-FR 6 43582247 43582247 single base substitution G C 3_prime_UTR_variant BRCA-FR 6 43582247 43582247 single base substitution G C missense_variant E637Q 1909G>C BRCA-FR 6 43582247 43582247 single base substitution G C missense_variant E699Q 2095G>C BRCA-FR 6 43585123 43585123 single base substitution G T downstream_gene_variant BRCA-FR 6 43585123 43585123 single base substitution G T intron_variant BRCA-FR 6 43585239 43585239 single base substitution G A downstream_gene_variant BRCA-FR 6 43585239 43585239 single base substitution G A intron_variant BRCA-FR 6 43587594 43587594 single base substitution G C downstream_gene_variant BRCA-FR 6 43588346 43588346 single base substitution G A downstream_gene_variant BRCA-FR 6 43588744 43588744 single base substitution C T downstream_gene_variant BRCA-KR 6 43572323 43572323 single base substitution A G intron_variant BRCA-UK 6 43549380 43549380 single base substitution T C intron_variant BRCA-UK 6 43583281 43583281 single base substitution G A 3_prime_UTR_variant BRCA-UK 6 43583281 43583281 single base substitution G A intron_variant BRCA-UK 6 43589453 43589453 single base substitution G C downstream_gene_variant BRCA-US 6 43541244 43541244 single base substitution C G upstream_gene_variant BRCA-US 6 43550143 43550143 single base substitution G C intron_variant BRCA-US 6 43550143 43550143 single base substitution G C missense_variant L29F 87G>C BRCA-US 6 43571740 43571740 single base substitution G A synonymous_variant E230E 690G>A BRCA-US 6 43571740 43571740 single base substitution G A synonymous_variant E292E 876G>A BRCA-US 6 43578461 43578461 single base substitution G T splice_donor_variant BRCA-US 6 43581864 43581864 single base substitution A G 3_prime_UTR_variant BRCA-US 6 43581864 43581864 single base substitution A G missense_variant Y509C 1526A>G BRCA-US 6 43581864 43581864 single base substitution A G missense_variant Y571C 1712A>G BTCA-JP 6 43543676 43543676 single base substitution A C upstream_gene_variant BTCA-JP 6 43546055 43546055 single base substitution C T intron_variant BTCA-JP 6 43573180 43573180 single base substitution C T intron_variant BTCA-JP 6 43589949 43589949 single base substitution T A downstream_gene_variant CESC-US 6 43588571 43588571 single base substitution G C downstream_gene_variant CESC-US 6 43591477 43591477 single base substitution G C downstream_gene_variant CLLE-ES 6 43545038 43545038 single base substitution G A intron_variant CLLE-ES 6 43549761 43549761 single base substitution A G intron_variant COAD-US 6 43541310 43541310 single base substitution G T upstream_gene_variant COAD-US 6 43565525 43565525 single base substitution G A missense_variant V133M 397G>A COAD-US 6 43565525 43565525 single base substitution G A missense_variant V195M 583G>A COAD-US 6 43578345 43578345 single base substitution C T missense_variant R315C 943C>T COAD-US 6 43578345 43578345 single base substitution C T missense_variant R377C 1129C>T COAD-US 6 43578363 43578363 single base substitution C T missense_variant R321C 961C>T COAD-US 6 43578363 43578363 single base substitution C T missense_variant R383C 1147C>T COAD-US 6 43578442 43578442 single base substitution C A missense_variant S347Y 1040C>A COAD-US 6 43578442 43578442 single base substitution C A missense_variant S409Y 1226C>A COAD-US 6 43581586 43581586 single base substitution G A 3_prime_UTR_variant COAD-US 6 43581586 43581586 single base substitution G A synonymous_variant T416T 1248G>A COAD-US 6 43581586 43581586 single base substitution G A synonymous_variant T478T 1434G>A COAD-US 6 43581745 43581745 single base substitution C A 3_prime_UTR_variant COAD-US 6 43581745 43581745 single base substitution C A missense_variant F469L 1407C>A COAD-US 6 43581745 43581745 single base substitution C A missense_variant F531L 1593C>A COAD-US 6 43581826 43581826 single base substitution C A 3_prime_UTR_variant COAD-US 6 43581826 43581826 single base substitution C A synonymous_variant S496S 1488C>A COAD-US 6 43581826 43581826 single base substitution C A synonymous_variant S558S 1674C>A COAD-US 6 43582176 43582176 single base substitution C A 3_prime_UTR_variant COAD-US 6 43582176 43582176 single base substitution C A missense_variant S613Y 1838C>A COAD-US 6 43582176 43582176 single base substitution C A missense_variant S675Y 2024C>A COAD-US 6 43589787 43589787 single base substitution C T downstream_gene_variant COCA-CN 6 43541290 43541290 single base substitution A G upstream_gene_variant COCA-CN 6 43541306 43541306 single base substitution G T upstream_gene_variant COCA-CN 6 43545897 43545897 single base substitution G A intron_variant COCA-CN 6 43547650 43547650 single base substitution T A intron_variant COCA-CN 6 43547651 43547651 single base substitution T A intron_variant COCA-CN 6 43548682 43548682 single base substitution C T intron_variant COCA-CN 6 43549031 43549031 single base substitution T A intron_variant COCA-CN 6 43549038 43549038 single base substitution G C intron_variant COCA-CN 6 43565395 43565395 single base substitution T G intron_variant COCA-CN 6 43566391 43566391 single base substitution G A intron_variant COCA-CN 6 43573049 43573049 single base substitution G A missense_variant R294Q 881G>A COCA-CN 6 43573049 43573049 single base substitution G A missense_variant R356Q 1067G>A COCA-CN 6 43573067 43573067 single base substitution C A intron_variant COCA-CN 6 43573180 43573180 single base substitution C T intron_variant COCA-CN 6 43574274 43574274 single base substitution T G intron_variant COCA-CN 6 43581359 43581359 single base substitution A G intron_variant COCA-CN 6 43581825 43581825 single base substitution C T 3_prime_UTR_variant COCA-CN 6 43581825 43581825 single base substitution C T missense_variant S496F 1487C>T COCA-CN 6 43581825 43581825 single base substitution C T missense_variant S558F 1673C>T COCA-CN 6 43589095 43589095 single base substitution A G downstream_gene_variant COCA-CN 6 43589773 43589773 single base substitution A G downstream_gene_variant EOPC-DE 6 43575198 43575198 single base substitution A G intron_variant ESAD-UK 6 43539332 43539332 single base substitution T C upstream_gene_variant ESAD-UK 6 43541847 43541847 single base substitution G A upstream_gene_variant ESAD-UK 6 43543466 43543466 single base substitution G A upstream_gene_variant ESAD-UK 6 43543838 43543838 single base substitution C G upstream_gene_variant ESAD-UK 6 43547185 43547185 single base substitution C G intron_variant ESAD-UK 6 43551141 43551141 single base substitution G A intron_variant ESAD-UK 6 43556198 43556198 single base substitution C A downstream_gene_variant ESAD-UK 6 43556198 43556198 single base substitution C A intron_variant ESAD-UK 6 43562258 43562258 single base substitution A G intron_variant ESAD-UK 6 43564337 43564337 single base substitution G C intron_variant ESAD-UK 6 43564426 43564426 single base substitution T G intron_variant ESAD-UK 6 43564601 43564601 single base substitution C T intron_variant ESAD-UK 6 43564673 43564673 single base substitution C G intron_variant ESAD-UK 6 43569048 43569048 single base substitution G A intron_variant ESAD-UK 6 43570652 43570652 single base substitution G T intron_variant ESAD-UK 6 43570855 43570855 single base substitution C G intron_variant ESAD-UK 6 43572314 43572314 single base substitution T C intron_variant ESAD-UK 6 43572810 43572810 single base substitution G C intron_variant ESAD-UK 6 43573461 43573461 single base substitution T A intron_variant ESAD-UK 6 43574957 43574957 single base substitution G A intron_variant ESAD-UK 6 43576666 43576666 single base substitution C T intron_variant ESAD-UK 6 43576860 43576860 single base substitution C T intron_variant ESAD-UK 6 43577702 43577702 single base substitution T G intron_variant ESAD-UK 6 43579834 43579834 single base substitution T A intron_variant ESAD-UK 6 43584532 43584532 single base substitution C T downstream_gene_variant ESAD-UK 6 43584532 43584532 single base substitution C T intron_variant ESAD-UK 6 43588291 43588291 insertion of <=200bp - TA downstream_gene_variant ESAD-UK 6 43588938 43588938 single base substitution G C downstream_gene_variant ESAD-UK 6 43589222 43589222 single base substitution C T downstream_gene_variant ESCA-CN 6 43578363 43578363 single base substitution C T missense_variant R321C 961C>T ESCA-CN 6 43578363 43578363 single base substitution C T missense_variant R383C 1147C>T KIRC-US 6 43550136 43550136 single base substitution C A intron_variant KIRC-US 6 43550136 43550136 single base substitution C A missense_variant P27H 80C>A KIRC-US 6 43550779 43550779 single base substitution G T 5_prime_UTR_variant KIRC-US 6 43550779 43550779 single base substitution G T missense_variant G58V 173G>T KIRC-US 6 43571729 43571729 single base substitution C A missense_variant H227N 679C>A KIRC-US 6 43571729 43571729 single base substitution C A missense_variant H289N 865C>A KIRC-US 6 43581424 43581424 insertion of <=200bp - TGT disruptive_inframe_insertion L362LV KIRC-US 6 43581424 43581424 insertion of <=200bp - TGT disruptive_inframe_insertion L424LV KIRC-US 6 43581424 43581424 insertion of <=200bp - TGT intron_variant KIRP-US 6 43541219 43541219 single base substitution G C upstream_gene_variant LAML-KR 6 43540089 43540089 single base substitution C A upstream_gene_variant LAML-KR 6 43548128 43548128 single base substitution T C intron_variant LAML-KR 6 43548135 43548135 single base substitution A C intron_variant LAML-KR 6 43548175 43548175 single base substitution C T intron_variant LAML-KR 6 43548176 43548176 single base substitution G A intron_variant LAML-KR 6 43548577 43548577 single base substitution C T intron_variant LAML-KR 6 43549254 43549254 single base substitution C T intron_variant LAML-KR 6 43549489 43549489 single base substitution C A intron_variant LAML-KR 6 43554938 43554938 single base substitution T G intron_variant LAML-KR 6 43573911 43573911 single base substitution G T intron_variant LICA-FR 6 43572488 43572488 single base substitution T C intron_variant LIHC-US 6 43555153 43555153 single base substitution A T downstream_gene_variant LIHC-US 6 43555153 43555153 single base substitution A T synonymous_variant A139A 417A>T LIHC-US 6 43555153 43555153 single base substitution A T synonymous_variant A77A 231A>T LINC-JP 6 43555829 43555829 single base substitution A G downstream_gene_variant LINC-JP 6 43555829 43555829 single base substitution A G intron_variant LINC-JP 6 43557901 43557901 single base substitution C G downstream_gene_variant LINC-JP 6 43557901 43557901 single base substitution C G intron_variant LINC-JP 6 43563524 43563524 single base substitution A G intron_variant LINC-JP 6 43565063 43565063 single base substitution G T intron_variant LINC-JP 6 43573176 43573176 single base substitution C T intron_variant LINC-JP 6 43573180 43573180 single base substitution C T intron_variant LINC-JP 6 43578625 43578625 insertion of <=200bp - T intron_variant LINC-JP 6 43589129 43589137 deletion of <=200bp TCGGAGCAC - downstream_gene_variant LINC-JP 6 43590003 43590003 single base substitution T C downstream_gene_variant LINC-JP 6 43591465 43591465 single base substitution A C downstream_gene_variant LIRI-JP 6 43539139 43539139 single base substitution C G upstream_gene_variant LIRI-JP 6 43539492 43539492 single base substitution C A upstream_gene_variant LIRI-JP 6 43539752 43539752 single base substitution C T upstream_gene_variant LIRI-JP 6 43539873 43539873 single base substitution G A upstream_gene_variant LIRI-JP 6 43540256 43540256 single base substitution T G upstream_gene_variant LIRI-JP 6 43540271 43540271 single base substitution T A upstream_gene_variant LIRI-JP 6 43540887 43540887 single base substitution T C upstream_gene_variant LIRI-JP 6 43543908 43543908 single base substitution C A 5_prime_UTR_variant LIRI-JP 6 43543908 43543908 single base substitution C A upstream_gene_variant LIRI-JP 6 43544540 43544540 single base substitution A T intron_variant LIRI-JP 6 43546111 43546111 single base substitution C A intron_variant LIRI-JP 6 43546630 43546630 single base substitution A G intron_variant LIRI-JP 6 43551272 43551272 single base substitution C G intron_variant LIRI-JP 6 43553339 43553339 single base substitution C G intron_variant LIRI-JP 6 43554936 43554936 single base substitution G C intron_variant LIRI-JP 6 43555633 43555633 single base substitution G T downstream_gene_variant LIRI-JP 6 43555633 43555633 single base substitution G T intron_variant LIRI-JP 6 43556228 43556228 single base substitution G T downstream_gene_variant LIRI-JP 6 43556228 43556228 single base substitution G T intron_variant LIRI-JP 6 43557120 43557120 single base substitution A G downstream_gene_variant LIRI-JP 6 43557120 43557120 single base substitution A G intron_variant LIRI-JP 6 43557146 43557146 single base substitution A G downstream_gene_variant LIRI-JP 6 43557146 43557146 single base substitution A G intron_variant LIRI-JP 6 43557411 43557411 single base substitution G A downstream_gene_variant LIRI-JP 6 43557411 43557411 single base substitution G A intron_variant LIRI-JP 6 43558031 43558031 single base substitution G A downstream_gene_variant LIRI-JP 6 43558031 43558031 single base substitution G A intron_variant LIRI-JP 6 43561802 43561802 single base substitution T A intron_variant LIRI-JP 6 43561864 43561864 single base substitution A G intron_variant LIRI-JP 6 43562196 43562196 single base substitution A G intron_variant LIRI-JP 6 43563073 43563073 single base substitution C T intron_variant LIRI-JP 6 43563859 43563859 single base substitution A G intron_variant LIRI-JP 6 43563871 43563871 single base substitution G A intron_variant LIRI-JP 6 43564918 43564918 single base substitution T A intron_variant LIRI-JP 6 43565196 43565196 single base substitution A G intron_variant LIRI-JP 6 43567780 43567780 single base substitution A G intron_variant LIRI-JP 6 43569168 43569168 single base substitution A G intron_variant LIRI-JP 6 43569483 43569483 single base substitution A G intron_variant LIRI-JP 6 43571153 43571153 single base substitution C T intron_variant LIRI-JP 6 43571624 43571624 single base substitution A G splice_region_variant LIRI-JP 6 43574093 43574093 single base substitution A G intron_variant LIRI-JP 6 43574353 43574353 single base substitution A G intron_variant LIRI-JP 6 43574470 43574470 single base substitution C G intron_variant LIRI-JP 6 43574978 43574978 single base substitution C T intron_variant LIRI-JP 6 43577728 43577728 single base substitution T C intron_variant LIRI-JP 6 43578912 43578912 single base substitution A G intron_variant LIRI-JP 6 43580178 43580178 single base substitution G A intron_variant LIRI-JP 6 43581372 43581397 deletion of <=200bp TCTTATTTCTTTACTTTCTGTATAGG - frameshift_variant W353 LIRI-JP 6 43581372 43581397 deletion of <=200bp TCTTATTTCTTTACTTTCTGTATAGG - frameshift_variant W415 LIRI-JP 6 43581372 43581397 deletion of <=200bp TCTTATTTCTTTACTTTCTGTATAGG - intron_variant LIRI-JP 6 43581458 43581458 single base substitution T A intron_variant LIRI-JP 6 43581458 43581458 single base substitution T A missense_variant S374T 1120T>A LIRI-JP 6 43581458 43581458 single base substitution T A missense_variant S436T 1306T>A LIRI-JP 6 43584453 43584453 insertion of <=200bp - A downstream_gene_variant LIRI-JP 6 43584453 43584453 insertion of <=200bp - A intron_variant LIRI-JP 6 43584554 43584554 single base substitution T C downstream_gene_variant LIRI-JP 6 43584554 43584554 single base substitution T C intron_variant LIRI-JP 6 43587744 43587744 single base substitution A G downstream_gene_variant LUSC-KR 6 43539872 43539872 single base substitution T C upstream_gene_variant LUSC-KR 6 43539935 43539935 single base substitution C T upstream_gene_variant LUSC-KR 6 43548176 43548176 single base substitution G A intron_variant LUSC-KR 6 43548242 43548242 single base substitution A C intron_variant LUSC-KR 6 43548248 43548248 single base substitution C T intron_variant LUSC-KR 6 43548307 43548307 single base substitution G A intron_variant LUSC-KR 6 43548315 43548315 single base substitution G A intron_variant LUSC-KR 6 43548361 43548361 single base substitution C T intron_variant LUSC-KR 6 43548430 43548430 single base substitution T G intron_variant LUSC-KR 6 43548458 43548458 single base substitution A C intron_variant LUSC-KR 6 43548577 43548577 single base substitution C T intron_variant LUSC-KR 6 43548671 43548671 single base substitution C T intron_variant LUSC-KR 6 43548810 43548810 single base substitution C T intron_variant LUSC-KR 6 43548834 43548834 single base substitution C T intron_variant LUSC-KR 6 43549254 43549254 single base substitution C T intron_variant LUSC-KR 6 43551128 43551128 single base substitution G C intron_variant LUSC-KR 6 43553365 43553365 single base substitution C A intron_variant LUSC-KR 6 43561637 43561637 single base substitution G A intron_variant LUSC-KR 6 43561693 43561693 single base substitution G A intron_variant LUSC-KR 6 43572218 43572218 single base substitution G T intron_variant LUSC-KR 6 43573205 43573205 single base substitution G T intron_variant LUSC-KR 6 43578425 43578425 single base substitution C G missense_variant I341M 1023C>G LUSC-KR 6 43578425 43578425 single base substitution C G missense_variant I403M 1209C>G LUSC-KR 6 43586313 43586313 single base substitution C T downstream_gene_variant LUSC-KR 6 43586313 43586313 single base substitution C T intron_variant LUSC-KR 6 43590107 43590107 single base substitution G A downstream_gene_variant MALY-DE 6 43541600 43541600 single base substitution G A upstream_gene_variant MALY-DE 6 43541707 43541707 single base substitution C T upstream_gene_variant MALY-DE 6 43544106 43544106 single base substitution C T 5_prime_UTR_variant MALY-DE 6 43544106 43544106 single base substitution C T upstream_gene_variant MALY-DE 6 43561533 43561533 single base substitution C T intron_variant MALY-DE 6 43567146 43567146 single base substitution G T intron_variant MALY-DE 6 43571819 43571819 single base substitution C G intron_variant MELA-AU 6 43539471 43539471 single base substitution G A upstream_gene_variant MELA-AU 6 43540375 43540375 single base substitution G A upstream_gene_variant MELA-AU 6 43541183 43541183 single base substitution C T upstream_gene_variant MELA-AU 6 43541373 43541373 single base substitution G A upstream_gene_variant MELA-AU 6 43541493 43541493 single base substitution G A upstream_gene_variant MELA-AU 6 43541836 43541836 single base substitution G A upstream_gene_variant MELA-AU 6 43541965 43541965 single base substitution G A upstream_gene_variant MELA-AU 6 43541999 43541999 single base substitution C T upstream_gene_variant MELA-AU 6 43543864 43543864 single base substitution G A upstream_gene_variant MELA-AU 6 43544290 43544290 single base substitution C T intron_variant MELA-AU 6 43544851 43544851 single base substitution G A intron_variant MELA-AU 6 43544914 43544914 single base substitution C T intron_variant MELA-AU 6 43545832 43545832 single base substitution C T intron_variant MELA-AU 6 43546504 43546504 single base substitution G A intron_variant MELA-AU 6 43547128 43547128 single base substitution G A intron_variant MELA-AU 6 43549409 43549409 single base substitution G A intron_variant MELA-AU 6 43550655 43550655 single base substitution A T intron_variant MELA-AU 6 43550705 43550705 single base substitution T A intron_variant MELA-AU 6 43551697 43551697 single base substitution G A intron_variant MELA-AU 6 43551814 43551814 single base substitution A G intron_variant MELA-AU 6 43552279 43552279 single base substitution C T intron_variant MELA-AU 6 43552421 43552421 single base substitution C T intron_variant MELA-AU 6 43552499 43552499 single base substitution C T intron_variant MELA-AU 6 43552820 43552820 single base substitution C T intron_variant MELA-AU 6 43553574 43553574 single base substitution T C intron_variant MELA-AU 6 43553758 43553758 single base substitution C A intron_variant MELA-AU 6 43554485 43554485 single base substitution A G intron_variant MELA-AU 6 43554822 43554822 single base substitution C T intron_variant MELA-AU 6 43555530 43555530 single base substitution C T downstream_gene_variant MELA-AU 6 43555530 43555530 single base substitution C T intron_variant MELA-AU 6 43556040 43556040 single base substitution C T downstream_gene_variant MELA-AU 6 43556040 43556040 single base substitution C T intron_variant MELA-AU 6 43556172 43556172 single base substitution C T downstream_gene_variant MELA-AU 6 43556172 43556172 single base substitution C T intron_variant MELA-AU 6 43556389 43556389 single base substitution C T downstream_gene_variant MELA-AU 6 43556389 43556389 single base substitution C T intron_variant MELA-AU 6 43556689 43556689 single base substitution C T downstream_gene_variant MELA-AU 6 43556689 43556689 single base substitution C T intron_variant MELA-AU 6 43556808 43556808 single base substitution C T downstream_gene_variant MELA-AU 6 43556808 43556808 single base substitution C T intron_variant MELA-AU 6 43556896 43556896 single base substitution C T downstream_gene_variant MELA-AU 6 43556896 43556896 single base substitution C T intron_variant MELA-AU 6 43557053 43557053 single base substitution C T downstream_gene_variant MELA-AU 6 43557053 43557053 single base substitution C T intron_variant MELA-AU 6 43557076 43557076 single base substitution C T downstream_gene_variant MELA-AU 6 43557076 43557076 single base substitution C T intron_variant MELA-AU 6 43557159 43557159 single base substitution A T downstream_gene_variant MELA-AU 6 43557159 43557159 single base substitution A T intron_variant MELA-AU 6 43557624 43557624 single base substitution C T downstream_gene_variant MELA-AU 6 43557624 43557624 single base substitution C T intron_variant MELA-AU 6 43557771 43557771 single base substitution C T downstream_gene_variant MELA-AU 6 43557771 43557771 single base substitution C T intron_variant MELA-AU 6 43558071 43558071 single base substitution G A downstream_gene_variant MELA-AU 6 43558071 43558071 single base substitution G A intron_variant MELA-AU 6 43558584 43558584 single base substitution C T downstream_gene_variant MELA-AU 6 43558584 43558584 single base substitution C T intron_variant MELA-AU 6 43559067 43559067 single base substitution C T downstream_gene_variant MELA-AU 6 43559067 43559067 single base substitution C T intron_variant MELA-AU 6 43559375 43559375 single base substitution A T downstream_gene_variant MELA-AU 6 43559375 43559375 single base substitution A T intron_variant MELA-AU 6 43559851 43559851 single base substitution T C downstream_gene_variant MELA-AU 6 43559851 43559851 single base substitution T C intron_variant MELA-AU 6 43560272 43560272 single base substitution C T intron_variant MELA-AU 6 43560354 43560354 single base substitution G A intron_variant MELA-AU 6 43560727 43560727 single base substitution G A intron_variant MELA-AU 6 43560753 43560753 single base substitution G A intron_variant MELA-AU 6 43560846 43560846 single base substitution C T intron_variant MELA-AU 6 43561259 43561259 single base substitution C T intron_variant MELA-AU 6 43561398 43561398 single base substitution C T intron_variant MELA-AU 6 43561494 43561494 single base substitution A T intron_variant MELA-AU 6 43561846 43561846 single base substitution G A intron_variant MELA-AU 6 43562355 43562355 single base substitution A G intron_variant MELA-AU 6 43562376 43562376 single base substitution G A intron_variant MELA-AU 6 43563488 43563488 single base substitution C T intron_variant MELA-AU 6 43563553 43563553 single base substitution C T intron_variant MELA-AU 6 43563982 43563982 single base substitution A G intron_variant MELA-AU 6 43564294 43564294 single base substitution A G intron_variant MELA-AU 6 43564564 43564564 single base substitution T G intron_variant MELA-AU 6 43564895 43564895 single base substitution C T intron_variant MELA-AU 6 43565493 43565494 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T122I 365CC>TT MELA-AU 6 43565493 43565494 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T184I 551CC>TT MELA-AU 6 43566006 43566007 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 43566403 43566403 single base substitution C T intron_variant MELA-AU 6 43566760 43566760 single base substitution C T intron_variant MELA-AU 6 43567387 43567387 single base substitution C T intron_variant MELA-AU 6 43567950 43567950 single base substitution C T intron_variant MELA-AU 6 43568821 43568821 single base substitution C T missense_variant R191C 571C>T MELA-AU 6 43568821 43568821 single base substitution C T missense_variant R253C 757C>T MELA-AU 6 43568967 43568967 single base substitution A G intron_variant MELA-AU 6 43569234 43569234 single base substitution C T intron_variant MELA-AU 6 43569825 43569825 single base substitution C A intron_variant MELA-AU 6 43570885 43570885 single base substitution C T intron_variant MELA-AU 6 43571093 43571093 single base substitution C T intron_variant MELA-AU 6 43571363 43571363 single base substitution C T intron_variant MELA-AU 6 43571715 43571715 single base substitution C T missense_variant S222F 665C>T MELA-AU 6 43571715 43571715 single base substitution C T missense_variant S284F 851C>T MELA-AU 6 43572245 43572245 single base substitution C T intron_variant MELA-AU 6 43572393 43572393 single base substitution C T missense_variant P247L 740C>T MELA-AU 6 43572393 43572393 single base substitution C T missense_variant P309L 926C>T MELA-AU 6 43573047 43573047 single base substitution C T synonymous_variant D293D 879C>T MELA-AU 6 43573047 43573047 single base substitution C T synonymous_variant D355D 1065C>T MELA-AU 6 43573048 43573048 single base substitution C T stop_gained R294* 880C>T MELA-AU 6 43573048 43573048 single base substitution C T stop_gained R356* 1066C>T MELA-AU 6 43573071 43573071 single base substitution C T intron_variant MELA-AU 6 43573215 43573215 single base substitution C T intron_variant MELA-AU 6 43574031 43574031 single base substitution C T intron_variant MELA-AU 6 43574289 43574289 single base substitution C T intron_variant MELA-AU 6 43574527 43574527 single base substitution C T intron_variant MELA-AU 6 43575416 43575416 single base substitution C T intron_variant MELA-AU 6 43575987 43575987 single base substitution C T intron_variant MELA-AU 6 43576388 43576388 single base substitution C T intron_variant MELA-AU 6 43576546 43576546 single base substitution A G intron_variant MELA-AU 6 43576742 43576742 single base substitution A G intron_variant MELA-AU 6 43577478 43577478 single base substitution G A intron_variant MELA-AU 6 43577502 43577502 single base substitution A G intron_variant MELA-AU 6 43578297 43578297 single base substitution A G missense_variant R299G 895A>G MELA-AU 6 43578297 43578297 single base substitution A G missense_variant R361G 1081A>G MELA-AU 6 43579219 43579219 single base substitution C T intron_variant MELA-AU 6 43579788 43579788 single base substitution C T intron_variant MELA-AU 6 43580218 43580218 single base substitution G A intron_variant MELA-AU 6 43580236 43580236 single base substitution A G intron_variant MELA-AU 6 43581081 43581081 single base substitution C T intron_variant MELA-AU 6 43581257 43581257 single base substitution C G intron_variant MELA-AU 6 43581389 43581389 single base substitution C T intron_variant MELA-AU 6 43581389 43581389 single base substitution C T splice_region_variant MELA-AU 6 43581705 43581705 single base substitution T A 3_prime_UTR_variant MELA-AU 6 43581705 43581705 single base substitution T A stop_gained L456* 1367T>A MELA-AU 6 43581705 43581705 single base substitution T A stop_gained L518* 1553T>A MELA-AU 6 43581795 43581795 single base substitution C T 3_prime_UTR_variant MELA-AU 6 43581795 43581795 single base substitution C T missense_variant S486L 1457C>T MELA-AU 6 43581795 43581795 single base substitution C T missense_variant S548L 1643C>T MELA-AU 6 43582187 43582187 single base substitution C T 3_prime_UTR_variant MELA-AU 6 43582187 43582187 single base substitution C T missense_variant H617Y 1849C>T MELA-AU 6 43582187 43582187 single base substitution C T missense_variant H679Y 2035C>T MELA-AU 6 43582521 43582521 single base substitution C T 3_prime_UTR_variant MELA-AU 6 43582521 43582521 single base substitution C T intron_variant MELA-AU 6 43583692 43583692 single base substitution A G downstream_gene_variant MELA-AU 6 43583692 43583692 single base substitution A G intron_variant MELA-AU 6 43584635 43584635 single base substitution A T downstream_gene_variant MELA-AU 6 43584635 43584635 single base substitution A T intron_variant MELA-AU 6 43585322 43585322 single base substitution C T downstream_gene_variant MELA-AU 6 43585322 43585322 single base substitution C T intron_variant MELA-AU 6 43585980 43585980 single base substitution T C downstream_gene_variant MELA-AU 6 43585980 43585980 single base substitution T C intron_variant MELA-AU 6 43586459 43586460 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 43586459 43586460 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 43587527 43587527 single base substitution G A downstream_gene_variant MELA-AU 6 43588546 43588546 single base substitution G T downstream_gene_variant MELA-AU 6 43588992 43588992 single base substitution A G downstream_gene_variant MELA-AU 6 43589132 43589132 single base substitution G A downstream_gene_variant MELA-AU 6 43589223 43589223 single base substitution A G downstream_gene_variant MELA-AU 6 43590039 43590039 single base substitution G A downstream_gene_variant MELA-AU 6 43590078 43590078 single base substitution C T downstream_gene_variant MELA-AU 6 43590081 43590081 single base substitution C T downstream_gene_variant MELA-AU 6 43590272 43590272 single base substitution G A downstream_gene_variant MELA-AU 6 43591588 43591588 single base substitution A C downstream_gene_variant ORCA-IN 6 43541800 43541800 single base substitution C T upstream_gene_variant ORCA-IN 6 43553663 43553663 single base substitution G A intron_variant ORCA-IN 6 43567375 43567376 deletion of <=200bp TT - intron_variant ORCA-IN 6 43585449 43585449 single base substitution G A downstream_gene_variant ORCA-IN 6 43585449 43585449 single base substitution G A intron_variant OV-AU 6 43540309 43540309 single base substitution C A upstream_gene_variant OV-AU 6 43549380 43549380 single base substitution T C intron_variant OV-AU 6 43553903 43553903 single base substitution C A intron_variant OV-AU 6 43558598 43558598 single base substitution T G downstream_gene_variant OV-AU 6 43558598 43558598 single base substitution T G intron_variant OV-AU 6 43563821 43563821 single base substitution G C intron_variant OV-AU 6 43566222 43566222 single base substitution A T intron_variant OV-AU 6 43566225 43566225 single base substitution A G intron_variant OV-AU 6 43569655 43569655 single base substitution C T intron_variant OV-AU 6 43577571 43577571 single base substitution G C intron_variant OV-AU 6 43589945 43589945 single base substitution A G downstream_gene_variant OV-AU 6 43590013 43590013 single base substitution C G downstream_gene_variant PACA-AU 6 43541469 43541469 single base substitution A G upstream_gene_variant PACA-AU 6 43543956 43543956 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 6 43543956 43543956 single base substitution C T upstream_gene_variant PACA-AU 6 43558385 43558385 single base substitution T G downstream_gene_variant PACA-AU 6 43558385 43558385 single base substitution T G intron_variant PACA-AU 6 43560675 43560675 single base substitution A T intron_variant PACA-AU 6 43563016 43563016 single base substitution C T intron_variant PACA-AU 6 43569883 43569883 single base substitution A C intron_variant PACA-AU 6 43579015 43579015 single base substitution G A intron_variant PACA-AU 6 43583387 43583387 single base substitution A T 3_prime_UTR_variant PACA-AU 6 43583387 43583387 single base substitution A T intron_variant PACA-AU 6 43585924 43585924 single base substitution C T downstream_gene_variant PACA-AU 6 43585924 43585924 single base substitution C T intron_variant PACA-AU 6 43591135 43591135 single base substitution G A downstream_gene_variant PACA-CA 6 43540481 43540481 single base substitution C G upstream_gene_variant PACA-CA 6 43540669 43540669 single base substitution C T upstream_gene_variant PACA-CA 6 43540766 43540766 single base substitution C G upstream_gene_variant PACA-CA 6 43542227 43542227 insertion of <=200bp - TA upstream_gene_variant PACA-CA 6 43543827 43543827 single base substitution G T upstream_gene_variant PACA-CA 6 43544596 43544596 single base substitution C G intron_variant PACA-CA 6 43547652 43547652 single base substitution A T intron_variant PACA-CA 6 43557823 43557823 single base substitution C T downstream_gene_variant PACA-CA 6 43557823 43557823 single base substitution C T intron_variant PACA-CA 6 43558531 43558531 single base substitution G T downstream_gene_variant PACA-CA 6 43558531 43558531 single base substitution G T intron_variant PACA-CA 6 43559374 43559374 single base substitution T A downstream_gene_variant PACA-CA 6 43559374 43559374 single base substitution T A intron_variant PACA-CA 6 43560102 43560102 single base substitution A G downstream_gene_variant PACA-CA 6 43560102 43560102 single base substitution A G intron_variant PACA-CA 6 43560737 43560737 single base substitution G A intron_variant PACA-CA 6 43561981 43561981 single base substitution G T intron_variant PACA-CA 6 43575794 43575794 single base substitution G T intron_variant PACA-CA 6 43575996 43575998 deletion of <=200bp TTC - intron_variant PACA-CA 6 43578395 43578395 single base substitution C G missense_variant H331Q 993C>G PACA-CA 6 43578395 43578395 single base substitution C G missense_variant H393Q 1179C>G PACA-CA 6 43584198 43584198 single base substitution C T downstream_gene_variant PACA-CA 6 43584198 43584198 single base substitution C T intron_variant PACA-CA 6 43585218 43585218 insertion of <=200bp - GT downstream_gene_variant PACA-CA 6 43585218 43585218 insertion of <=200bp - GT intron_variant PACA-CA 6 43586181 43586181 single base substitution G A downstream_gene_variant PACA-CA 6 43586181 43586181 single base substitution G A intron_variant PACA-CA 6 43586441 43586441 single base substitution C G downstream_gene_variant PACA-CA 6 43586441 43586441 single base substitution C G intron_variant PACA-CA 6 43591225 43591225 single base substitution G A downstream_gene_variant PAEN-AU 6 43563339 43563339 single base substitution T C intron_variant PAEN-AU 6 43586731 43586731 single base substitution T G downstream_gene_variant PAEN-IT 6 43584563 43584563 single base substitution C T downstream_gene_variant PAEN-IT 6 43584563 43584563 single base substitution C T intron_variant PBCA-DE 6 43541329 43541329 single base substitution C T upstream_gene_variant PBCA-DE 6 43562874 43562874 single base substitution C T intron_variant PBCA-DE 6 43564220 43564220 insertion of <=200bp - A intron_variant PRAD-CA 6 43558675 43558675 single base substitution G A downstream_gene_variant PRAD-CA 6 43558675 43558675 single base substitution G A intron_variant PRAD-UK 6 43559521 43559521 single base substitution A C downstream_gene_variant PRAD-UK 6 43559521 43559521 single base substitution A C intron_variant PRAD-UK 6 43577783 43577783 single base substitution T C intron_variant RECA-EU 6 43544469 43544469 single base substitution A C intron_variant RECA-EU 6 43550458 43550458 single base substitution G C intron_variant RECA-EU 6 43554442 43554442 single base substitution C T intron_variant RECA-EU 6 43561633 43561633 single base substitution A G intron_variant RECA-EU 6 43571248 43571248 single base substitution C T intron_variant SKCA-BR 6 43541562 43541562 single base substitution T A upstream_gene_variant SKCA-BR 6 43543460 43543460 single base substitution T G upstream_gene_variant SKCA-BR 6 43543714 43543714 single base substitution T G upstream_gene_variant SKCA-BR 6 43543718 43543718 single base substitution A G upstream_gene_variant SKCA-BR 6 43543728 43543728 single base substitution A G upstream_gene_variant SKCA-BR 6 43548258 43548258 single base substitution G A intron_variant SKCA-BR 6 43548376 43548376 single base substitution G A intron_variant SKCA-BR 6 43558010 43558010 single base substitution C T downstream_gene_variant SKCA-BR 6 43558010 43558010 single base substitution C T intron_variant SKCA-BR 6 43559358 43559358 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 6 43559358 43559358 insertion of <=200bp - AT intron_variant SKCA-BR 6 43560247 43560255 deletion of <=200bp CACGCCATT - intron_variant SKCA-BR 6 43562112 43562112 single base substitution T A intron_variant SKCA-BR 6 43563199 43563199 single base substitution C T intron_variant SKCA-BR 6 43566385 43566385 single base substitution G A intron_variant SKCA-BR 6 43567306 43567306 single base substitution T C intron_variant SKCA-BR 6 43575605 43575605 single base substitution G A intron_variant SKCA-BR 6 43576920 43576920 single base substitution T C intron_variant SKCA-BR 6 43580083 43580083 insertion of <=200bp - CT intron_variant SKCM-US 6 43543521 43543521 single base substitution C A upstream_gene_variant SKCM-US 6 43550847 43550847 single base substitution C T missense_variant R19C 55C>T SKCM-US 6 43550847 43550847 single base substitution C T missense_variant R81C 241C>T SKCM-US 6 43565573 43565573 single base substitution C T stop_gained Q149* 445C>T SKCM-US 6 43565573 43565573 single base substitution C T stop_gained Q211* 631C>T SKCM-US 6 43578327 43578327 single base substitution C T missense_variant R309C 925C>T SKCM-US 6 43578327 43578327 single base substitution C T missense_variant R371C 1111C>T SKCM-US 6 43581767 43581767 single base substitution C T 3_prime_UTR_variant SKCM-US 6 43581767 43581767 single base substitution C T synonymous_variant L477L 1429C>T SKCM-US 6 43581767 43581767 single base substitution C T synonymous_variant L539L 1615C>T SKCM-US 6 43582080 43582080 single base substitution C T 3_prime_UTR_variant SKCM-US 6 43582080 43582080 single base substitution C T missense_variant P581L 1742C>T SKCM-US 6 43582080 43582080 single base substitution C T missense_variant P643L 1928C>T SKCM-US 6 43582291 43582291 single base substitution T C 3_prime_UTR_variant SKCM-US 6 43582291 43582291 single base substitution T C synonymous_variant H651H 1953T>C SKCM-US 6 43582291 43582291 single base substitution T C synonymous_variant H713H 2139T>C SKCM-US 6 43589866 43589866 single base substitution G A downstream_gene_variant STAD-US 6 43541338 43541338 single base substitution A T upstream_gene_variant STAD-US 6 43543539 43543539 single base substitution C T upstream_gene_variant STAD-US 6 43565480 43565480 single base substitution A T missense_variant I118F 352A>T STAD-US 6 43565480 43565480 single base substitution A T missense_variant I180F 538A>T STAD-US 6 43568821 43568821 single base substitution C T missense_variant R191C 571C>T STAD-US 6 43568821 43568821 single base substitution C T missense_variant R253C 757C>T STAD-US 6 43571749 43571749 single base substitution G C splice_donor_variant STAD-US 6 43573039 43573039 single base substitution A G missense_variant T291A 871A>G STAD-US 6 43573039 43573039 single base substitution A G missense_variant T353A 1057A>G STAD-US 6 43581728 43581728 single base substitution A G 3_prime_UTR_variant STAD-US 6 43581728 43581728 single base substitution A G missense_variant T464A 1390A>G STAD-US 6 43581728 43581728 single base substitution A G missense_variant T526A 1576A>G STAD-US 6 43581998 43581998 single base substitution G T 3_prime_UTR_variant STAD-US 6 43581998 43581998 single base substitution G T missense_variant V554L 1660G>T STAD-US 6 43581998 43581998 single base substitution G T missense_variant V616L 1846G>T STAD-US 6 43589374 43589376 deletion of <=200bp CTT - downstream_gene_variant STAD-US 6 43589437 43589437 single base substitution G A downstream_gene_variant UCEC-US 6 43540292 43540292 single base substitution C T upstream_gene_variant UCEC-US 6 43550126 43550126 single base substitution C T intron_variant UCEC-US 6 43550126 43550126 single base substitution C T missense_variant R24W 70C>T UCEC-US 6 43550150 43550150 single base substitution A G intron_variant UCEC-US 6 43550150 43550150 single base substitution A G missense_variant K32E 94A>G UCEC-US 6 43565510 43565510 single base substitution C A missense_variant L128I 382C>A UCEC-US 6 43565510 43565510 single base substitution C A missense_variant L190I 568C>A UCEC-US 6 43565515 43565515 single base substitution C T synonymous_variant T129T 387C>T UCEC-US 6 43565515 43565515 single base substitution C T synonymous_variant T191T 573C>T UCEC-US 6 43573012 43573012 single base substitution T A missense_variant L282I 844T>A UCEC-US 6 43573012 43573012 single base substitution T A missense_variant L344I 1030T>A UCEC-US 6 43573049 43573049 single base substitution G A missense_variant R294Q 881G>A UCEC-US 6 43573049 43573049 single base substitution G A missense_variant R356Q 1067G>A UCEC-US 6 43578328 43578328 single base substitution G A missense_variant R309H 926G>A UCEC-US 6 43578328 43578328 single base substitution G A missense_variant R371H 1112G>A UCEC-US 6 43578342 43578342 single base substitution A G missense_variant K314E 940A>G UCEC-US 6 43578342 43578342 single base substitution A G missense_variant K376E 1126A>G UCEC-US 6 43578403 43578403 single base substitution G T missense_variant S334I 1001G>T UCEC-US 6 43578403 43578403 single base substitution G T missense_variant S396I 1187G>T UCEC-US 6 43581675 43581675 single base substitution C T 3_prime_UTR_variant UCEC-US 6 43581675 43581675 single base substitution C T missense_variant P446L 1337C>T UCEC-US 6 43581675 43581675 single base substitution C T missense_variant P508L 1523C>T UCEC-US 6 43581898 43581898 single base substitution G A 3_prime_UTR_variant UCEC-US 6 43581898 43581898 single base substitution G A synonymous_variant S520S 1560G>A UCEC-US 6 43581898 43581898 single base substitution G A synonymous_variant S582S 1746G>A UCEC-US 6 43581941 43581941 single base substitution T A 3_prime_UTR_variant UCEC-US 6 43581941 43581941 single base substitution T A missense_variant L535M 1603T>A UCEC-US 6 43581941 43581941 single base substitution T A missense_variant L597M 1789T>A UCEC-US 6 43581993 43581993 single base substitution T C 3_prime_UTR_variant UCEC-US 6 43581993 43581993 single base substitution T C missense_variant L552P 1655T>C UCEC-US 6 43581993 43581993 single base substitution T C missense_variant L614P 1841T>C UCEC-US 6 43582112 43582112 single base substitution C A 3_prime_UTR_variant UCEC-US 6 43582112 43582112 single base substitution C A missense_variant H592N 1774C>A UCEC-US 6 43582112 43582112 single base substitution C A missense_variant H654N 1960C>A UCEC-US 6 43589779 43589779 single base substitution G A downstream_gene_variant UCEC-US 6 43590428 43590428 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 585276 COSM322741 c.1329C>G p.F443L Substitution - Missense 6:43613744-43613744 + TCGA-BR-8361-01 COSM3874376 c.1057A>G p.T353A Substitution - Missense 6:43605302-43605302 + B89-4-Tumor COSM1754830 c.1738G>C p.G580R Substitution - Missense 6:43614153-43614153 + HCT15 COSM3352028 c.930T>C p.V310V Substitution - coding silent 6:43604660-43604660 + TCGA-HU-A4GN-01 COSM3874374 c.538A>T p.I180F Substitution - Missense 6:43597743-43597743 + TCGA-AX-A0J1-01 COSM1079648 c.1112G>A p.R371H Substitution - Missense 6:43610591-43610591 + TCGA-B5-A11Y-01 COSM1079645 c.573C>T p.T191T Substitution - coding silent 6:43597778-43597778 + TCGA-AP-A054-01 COSM1079641 c.94A>G p.K32E Substitution - Missense 6:43582413-43582413 + TCGA-FD-A3SS-01 COSM3777697 c.279G>A p.R93R Substitution - coding silent 6:43587278-43587278 + DLD1 COSM3352028 c.930T>C p.V310V Substitution - coding silent 6:43604660-43604660 + TCGA-A6-6140-01 COSM3762102 c.1434G>A p.T478T Substitution - coding silent 6:43613849-43613849 + TCGA-B0-4837-01 COSM3366532 c.173G>T p.G58V Substitution - Missense 6:43583042-43583042 + HCA7 COSM4631117 c.1742T>C p.V581A Substitution - Missense 6:43614157-43614157 + TCGA-D1-A17Q-01 COSM1079654 c.1841T>C p.L614P Substitution - Missense 6:43614256-43614256 + GC8_T COSM150093 c.1433C>T p.T478M Substitution - Missense 6:43613848-43613848 + TCGA-A6-5665-01 COSM1444756 c.1147C>T p.R383C Substitution - Missense 6:43610626-43610626 + PT37 COSM5919076 c.796G>T p.V266F Substitution - Missense 6:43603923-43603923 + I2L-P19Ta-Tumor-Organoid COSM3352013 c.47_48insT p.V19fs*14 Insertion - Frameshift 6:43582366-43582367 + TCGA-D1-A177-01 COSM1079649 c.1126A>G p.K376E Substitution - Missense 6:43610605-43610605 + 2492708 COSM5718370 c.772C>T p.L258F Substitution - Missense 6:43603899-43603899 + 7b COSM4657736 c.199G>A p.D67N Substitution - Missense 6:43583068-43583068 + 193 COSM1741760 c.757C>T p.R253C Substitution - Missense 6:43601084-43601084 + HCT-116 COSM1672447 c.334G>A p.A112T Substitution - Missense 6:43587333-43587333 + TCGA-AP-A051-01 COSM1079640 c.70C>T p.R24W Substitution - Missense 6:43582389-43582389 + T3535 COSM1079645 c.573C>T p.T191T Substitution - coding silent 6:43597778-43597778 + LUAD-S01357 COSM387660 c.1924G>A p.V642I Substitution - Missense 6:43614339-43614339 + B89-4 COSM1754830 c.1738G>C p.G580R Substitution - Missense 6:43614153-43614153 + 2492710 COSM5718370 c.772C>T p.L258F Substitution - Missense 6:43603899-43603899 + TCGA-B0-4833-01 COSM3366531 c.80C>A p.P27H Substitution - Missense 6:43582399-43582399 + TCGA-D1-A17Q-01 COSM1079650 c.1187G>T p.S396I Substitution - Missense 6:43610666-43610666 + Pat_08_B COSM5870758 c.2012C>T p.P671L Substitution - Missense 6:43614427-43614427 + 2492713 COSM5718617 c.155A>T p.Y52F Substitution - Missense 6:43583024-43583024 + TCGA-AX-A05Z-01 COSM1079655 c.1960C>A p.H654N Substitution - Missense 6:43614375-43614375 + TCGA-D9-A6EC-06 COSM4405018 c.1615C>T p.L539L Substitution - coding silent 6:43614030-43614030 + SJOS001107_M1 COSM5024130 c.499C>T p.R167* Substitution - Nonsense 6:43597704-43597704 + TCGA-BG-A18A-01 COSM1079653 c.1789T>A p.L597M Substitution - Missense 6:43614204-43614204 + Pat_59_B COSM5870759 c.2060G>A p.S687N Substitution - Missense 6:43614475-43614475 + TCGA-CH-5771-01 COSM1131852 c.526G>C p.D176H Substitution - Missense 6:43597731-43597731 + T3724 COSM1672447 c.334G>A p.A112T Substitution - Missense 6:43587333-43587333 + TCGA-BG-A0VZ-01 COSM1079642 c.277C>T p.R93W Substitution - Missense 6:43587276-43587276 + PD8609a COSM5782063 c.1072G>A p.D358N Substitution - Missense 6:43605317-43605317 + ESCC-014T COSM1444756 c.1147C>T p.R383C Substitution - Missense 6:43610626-43610626 + Pat_45_B COSM5870757 c.1718G>A p.G573E Substitution - Missense 6:43614133-43614133 + T3724 COSM3352036 c.1564A>G p.T522A Substitution - Missense 6:43613979-43613979 + TCGA-EE-A2GR-06 COSM3627728 c.1111C>T p.R371C Substitution - Missense 6:43610590-43610590 + 2492712 COSM5718617 c.155A>T p.Y52F Substitution - Missense 6:43583024-43583024 + CSCC-27-T COSM3921849 c.241C>T p.R81C Substitution - Missense 6:43583110-43583110 + sysucc-1150T COSM1079647 c.1067G>A p.R356Q Substitution - Missense 6:43605312-43605312 + SW480 COSM4655985 c.130G>T p.G44C Substitution - Missense 6:43582449-43582449 + TCGA-FD-A3SS-01 COSM3777698 c.475G>C p.E159Q Substitution - Missense 6:43587474-43587474 + PCSI_0009_Pa_X COSM3381609 c.1179C>G p.H393Q Substitution - Missense 6:43610658-43610658 + TCGA-CC-A7IH-01 COSM4924057 c.417A>T p.A139A Substitution - coding silent 6:43587416-43587416 + 2492711 COSM5718617 c.155A>T p.Y52F Substitution - Missense 6:43583024-43583024 + HCC1395 COSM13899 c.458G>A p.G153D Substitution - Missense 6:43587457-43587457 + TCGA-HF-7132-01 COSM1741760 c.757C>T p.R253C Substitution - Missense 6:43601084-43601084 + RK026_C01 COSM1634816 c.765-5A>G p.? Unknown 6:43603887-43603887 + 250LT COSM4382703 c.332G>A p.R111H Substitution - Missense 6:43587331-43587331 + TCGA-BH-A0HP-01 COSM451540 c.87G>C p.L29F Substitution - Missense 6:43582406-43582406 + SNU-175 COSM3352014 c.48delT p.F18fs*12 Deletion - Frameshift 6:43582367-43582367 + YUKAT COSM5405404 c.495G>A p.G165G Substitution - coding silent 6:43597700-43597700 + EGC3 COSM3627728 c.1111C>T p.R371C Substitution - Missense 6:43610590-43610590 + TCGA-FW-A3R5-06 COSM3921849 c.241C>T p.R81C Substitution - Missense 6:43583110-43583110 + TCGA-AY-6197-01 COSM1444757 c.1226C>A p.S409Y Substitution - Missense 6:43610705-43610705 + TCGA-AM-5821-01 COSM3697880 c.2024C>A p.S675Y Substitution - Missense 6:43614439-43614439 + PD13760a COSM5786846 c.894A>G p.L298L Substitution - coding silent 6:43604624-43604624 + TCGA-CG-5722-01 COSM3874377 c.1576A>G p.T526A Substitution - Missense 6:43613991-43613991 + TCGA-AX-A0J1-01 COSM1079651 c.1523C>T p.P508L Substitution - Missense 6:43613938-43613938 + ESO-049 COSM1262690 c.1589C>T p.P530L Substitution - Missense 6:43614004-43614004 + TCGA-D8-A1XK-01 COSM3830623 c.1712A>G p.Y571C Substitution - Missense 6:43614127-43614127 + PTC-28C COSM4161235 c.1521T>C p.A507A Substitution - coding silent 6:43613936-43613936 + 61 COSM5737617 c.1469G>T p.R490M Substitution - Missense 6:43613884-43613884 + TCGA-DM-A285-01 COSM1444760 c.1674C>A p.S558S Substitution - coding silent 6:43614089-43614089 + ESCC_109 COSM5639102 c.134G>T p.G45V Substitution - Missense 6:43582453-43582453 + TCGA-B5-A0JY-01 COSM1079647 c.1067G>A p.R356Q Substitution - Missense 6:43605312-43605312 + TCGA-CM-4746-01 COSM1221466 c.1129C>T p.R377C Substitution - Missense 6:43610608-43610608 + PT35 COSM5912488 c.865C>T p.H289Y Substitution - Missense 6:43603992-43603992 + HCA7 COSM4631116 c.133G>A p.G45S Substitution - Missense 6:43582452-43582452 + TCGA-B5-A0JY-01 COSM1079652 c.1746G>A p.S582S Substitution - coding silent 6:43614161-43614161 + TCGA-D1-A17B-01 COSM1079639 c.41T>C p.M14T Substitution - Missense 6:43582360-43582360 + TCGA-D9-A1JW-06 COSM3627729 c.1928C>T p.P643L Substitution - Missense 6:43614343-43614343 + SJOS001107_M2 COSM5024130 c.499C>T p.R167* Substitution - Nonsense 6:43597704-43597704 + 587336 COSM1221467 c.1392G>T p.Q464H Substitution - Missense 6:43613807-43613807 + 2492714 COSM5718617 c.155A>T p.Y52F Substitution - Missense 6:43583024-43583024 + TCGA-BR-6452-01 COSM3874378 c.1846G>T p.V616L Substitution - Missense 6:43614261-43614261 + Ad4 COSM1221466 c.1129C>T p.R377C Substitution - Missense 6:43610608-43610608 + Pat_41_B COSM5870756 c.1008+1G>A p.? Unknown 6:43604739-43604739 + TCGA-AP-A051-01 COSM1079644 c.568C>A p.L190I Substitution - Missense 6:43597773-43597773 + TCGA-BP-5173-01 COSM484120 c.865C>A p.H289N Substitution - Missense 6:43603992-43603992 + TCGA-G4-6628-01 COSM1444754 c.583G>A p.V195M Substitution - Missense 6:43597788-43597788 + T55 COSM3352014 c.48delT p.F18fs*12 Deletion - Frameshift 6:43582367-43582367 + TCGA-AA-3672-01 COSM267222 c.1738G>T p.G580W Substitution - Missense 6:43614153-43614153 + TCGA-FD-A3N5-01 COSM1312243 c.837C>T p.T279T Substitution - coding silent 6:43603964-43603964 + TCGA-CD-A487-01 COSM3874375 c.884+1G>C p.? Unknown 6:43604012-43604012 + TCGA-A2-A04R-01 COSM451542 c.1244+1G>T p.? Unknown 6:43610724-43610724 + Pat_63_B COSM5870755 c.827G>A p.G276D Substitution - Missense 6:43603954-43603954 + TCGA-EE-A29D-06 COSM3627730 c.2139T>C p.H713H Substitution - coding silent 6:43614554-43614554 + CADO-ES1 COSM3352015 c.104C>T p.A35V Substitution - Missense 6:43582423-43582423 + TCGA-GF-A6C9-06 COSM4899691 c.631C>T p.Q211* Substitution - Nonsense 6:43597836-43597836 + 587224 COSM1221466 c.1129C>T p.R377C Substitution - Missense 6:43610608-43610608 + HCC1395 COSM13899 c.458G>A p.G153D Substitution - Missense 6:43587457-43587457 + TCGA-B5-A11G-01 COSM1079646 c.1030T>A p.L344I Substitution - Missense 6:43605275-43605275 + HN_62481 COSM121604 c.1053A>G p.R351R Substitution - coding silent 6:43605298-43605298 + CR108 COSM4994725 c.2098G>A p.G700S Substitution - Missense 6:43614513-43614513 + CADO-ES1 COSM3352012 c.40A>G p.M14V Substitution - Missense 6:43582359-43582359 + T3118 COSM3352014 c.48delT p.F18fs*12 Deletion - Frameshift 6:43582367-43582367 + T2197 COSM4716457 c.1929G>A p.P643P Substitution - coding silent 6:43614344-43614344 + 41T COSM3381609 c.1179C>G p.H393Q Substitution - Missense 6:43610658-43610658 + TCGA-DK-A3WW-01 COSM3777699 c.1192G>T p.D398Y Substitution - Missense 6:43610671-43610671 + HRA19 COSM4638005 c.265C>T p.L89F Substitution - Missense 6:43583134-43583134 + ESCC_109 COSM5639103 c.137+1G>T p.? Unknown 6:43582457-43582457 + TCGA-BG-A0M3-01 COSM1079643 c.373G>T p.V125L Substitution - Missense 6:43587372-43587372 + HT115 COSM173459 c.1349C>A p.S450Y Substitution - Missense 6:43613764-43613764 + SK-MEL-2 COSM1672448 c.959G>T p.G320V Substitution - Missense 6:43604689-43604689 + SC_9058 COSM5550776 c.285C>T p.A95A Substitution - coding silent 6:43587284-43587284 + CHEWS032 COSM4586783 c.106_108delGTT p.V37delV Deletion - In frame 6:43582425-43582427 + J90_T COSM3949261 c.1209C>G p.I403M Substitution - Missense 6:43610688-43610688 + HCC1395 COSM13899 c.458G>A p.G153D Substitution - Missense 6:43587457-43587457 + CoCM-1 COSM4621209 c.1723G>A p.V575I Substitution - Missense 6:43614138-43614138 + TCGA-AO-A12A-01 COSM451541 c.876G>A p.E292E Substitution - coding silent 6:43604003-43604003 + KM12 COSM3352048 c.2097G>A p.E699E Substitution - coding silent 6:43614512-43614512 + TCGA-AA-3510-01 COSM1444758 c.1593C>A p.F531L Substitution - Missense 6:43614008-43614008 + HCT116 COSM4612475 c.2119delT p.F708fs*4 Deletion - Frameshift 6:43614534-43614534 + SC_9081 COSM5549105 c.641C>T p.A214V Substitution - Missense 6:43597846-43597846 + CHEWS015 COSM4586783 c.106_108delGTT p.V37delV Deletion - In frame 6:43582425-43582427 + 2492709 COSM5718370 c.772C>T p.L258F Substitution - Missense 6:43603899-43603899 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655459;Hs.655460;Hs.655462;Hs.655463;Hs.655465;Hs.655466;Hs.655467 6p21.1 603968

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC CT Missense p.T502L c.1504_1505delinsCT 6 43581656 CM A G Missense p.K32E c.94A>G 6 43550150 UCEC A G Missense p.K376E c.1126A>G 6 43578342 UCEC A G Missense p.T526A c.1576A>G 6 43581728 STAD A G Synonymous p.R351R c.1053A>G 6 43573035 HNSC A G Synonymous p.S213S c.639A>G 6 43565581 COREAD C A Missense p.H289N c.865C>A 6 43571729 RCCC C A Missense p.P27H c.80C>A 6 43550136 RCCC C A Synonymous p.P634P c.1902C>A 6 43582054 LUAD C G Missense p.F443L c.1329C>G 6 43581481 SCLC C T Missense p.H679Y c.2035C>T 6 43582187 CM C T Missense p.P530L c.1589C>T 6 43581741 ESCA C T Missense p.P643L c.1928C>T 6 43582080 CM C T Missense p.R371C c.1111C>T 6 43578327 CM C T Synonymous p.T191T c.573C>T 6 43565515 UCEC C T Synonymous p.T279T c.837C>T 6 43571701 BLCA G A Missense p.E636K c.1906G>A 6 43582058 HNSC G A Missense p.G153D c.458G>A 6 43555194 BRCA G A Synonymous p.E292E c.876G>A 6 43571740 BRCA G C Missense p.L29F c.87G>C 6 43550143 BRCA G T Missense p.G58V c.173G>T 6 43550779 RCCC G T Missense p.M595I c.1785G>T 6 43581937 HNSC G T SpliceDonorSNV . c.1244+1G>T 6 43578461 BRCA T A Missense p.L344I c.1030T>A 6 43573012 UCEC T A Missense p.L597M c.1789T>A 6 43581941 UCEC - TGT InFrameInsertion p.L424dupL c.1273_1274insTGT 6 43581425 RCCC