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 5 73930600 73930600 + Missense_Mutation SNP C C A TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr5:73930600C>A c.1711G>T c.(1711-1713)Gtc>Ttc p.V571F BLCA 5 73930721 73930721 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:73930721G>A c.1590C>T c.(1588-1590)agC>agT p.S530S BLCA 5 73931551 73931551 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr5:73931551C>T c.760G>A c.(760-762)Gaa>Aaa p.E254K BLCA 5 73932241 73932241 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr5:73932241G>A c.70C>T c.(70-72)Cac>Tac p.H24Y BRCA 5 73931216 73931216 + Silent SNP G G A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 g.chr5:73931216G>A c.1095C>T c.(1093-1095)caC>caT p.H365H BRCA 5 73931271 73931271 + Missense_Mutation SNP C C A TCGA-A7-A4SE-01A-11D-A25Q-09 TCGA-A7-A4SE-10A-01D-A25Q-09 g.chr5:73931271C>A c.1040G>T c.(1039-1041)gGg>gTg p.G347V BRCA 5 73931474 73931474 + Missense_Mutation SNP A A T TCGA-E2-A107-01A-11D-A10M-09 TCGA-E2-A107-10A-01D-A10M-09 g.chr5:73931474A>T c.837T>A c.(835-837)aaT>aaA p.N279K BRCA 5 73931919 73931919 + Missense_Mutation SNP T T A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 g.chr5:73931919T>A c.392A>T c.(391-393)gAc>gTc p.D131V CESC 5 73931944 73931944 + Missense_Mutation SNP C C A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 g.chr5:73931944C>A c.367G>T c.(367-369)Gct>Tct p.A123S CHOL 5 73931139 73931139 + Frame_Shift_Del DEL T T - TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr5:73931139delT c.1172delA c.(1171-1173)tatfs p.Y391fs COAD 5 73930564 73930564 + Missense_Mutation SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr5:73930564T>C c.1747A>G c.(1747-1749)Acc>Gcc p.T583A COAD 5 73930564 73930564 + Missense_Mutation SNP T T C TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr5:73930564T>C c.1747A>G c.(1747-1749)Acc>Gcc p.T583A COAD 5 73930564 73930564 + Missense_Mutation SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr5:73930564T>C c.1747A>G c.(1747-1749)Acc>Gcc p.T583A COAD 5 73930575 73930575 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr5:73930575G>A c.1736C>T c.(1735-1737)gCa>gTa p.A579V COAD 5 73930590 73930590 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:73930590G>A c.1721C>T c.(1720-1722)tCg>tTg p.S574L COAD 5 73930595 73930595 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:73930595C>T c.1716G>A c.(1714-1716)ccG>ccA p.P572P COAD 5 73930636 73930636 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:73930636C>T c.1675G>A c.(1675-1677)Gat>Aat p.D559N COAD 5 73930729 73930729 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:73930729G>A c.1582C>T c.(1582-1584)Cgc>Tgc p.R528C COAD 5 73930775 73930775 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:73930775G>A c.1536C>T c.(1534-1536)aaC>aaT p.N512N COAD 5 73930852 73930852 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:73930852C>T c.1459G>A c.(1459-1461)Gca>Aca p.A487T COAD 5 73930863 73930863 + Missense_Mutation SNP C C T TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr5:73930863C>T c.1448G>A c.(1447-1449)cGt>cAt p.R483H COAD 5 73931270 73931270 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:73931270delC c.1041delG c.(1039-1041)gggfs p.G347fs COAD 5 73931445 73931445 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:73931445C>T c.866G>A c.(865-867)cGa>cAa p.R289Q COAD 5 73932133 73932133 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:73932133G>A c.178C>T c.(178-180)Cac>Tac p.H60Y COAD 5 73932154 73932154 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr5:73932154C>T c.157G>A c.(157-159)Gga>Aga p.G53R COADREAD 5 73930564 73930564 + Missense_Mutation SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr5:73930564T>C c.1747A>G c.(1747-1749)Acc>Gcc p.T583A COADREAD 5 73930564 73930564 + Missense_Mutation SNP T T C TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr5:73930564T>C c.1747A>G c.(1747-1749)Acc>Gcc p.T583A COADREAD 5 73930564 73930564 + Missense_Mutation SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr5:73930564T>C c.1747A>G c.(1747-1749)Acc>Gcc p.T583A COADREAD 5 73930575 73930575 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr5:73930575G>A c.1736C>T c.(1735-1737)gCa>gTa p.A579V COADREAD 5 73930590 73930590 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:73930590G>A c.1721C>T c.(1720-1722)tCg>tTg p.S574L COADREAD 5 73930595 73930595 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:73930595C>T c.1716G>A c.(1714-1716)ccG>ccA p.P572P COADREAD 5 73930636 73930636 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:73930636C>T c.1675G>A c.(1675-1677)Gat>Aat p.D559N COADREAD 5 73930729 73930729 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:73930729G>A c.1582C>T c.(1582-1584)Cgc>Tgc p.R528C COADREAD 5 73930775 73930775 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr5:73930775G>A c.1536C>T c.(1534-1536)aaC>aaT p.N512N COADREAD 5 73930852 73930852 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:73930852C>T c.1459G>A c.(1459-1461)Gca>Aca p.A487T COADREAD 5 73930863 73930863 + Missense_Mutation SNP C C T TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr5:73930863C>T c.1448G>A c.(1447-1449)cGt>cAt p.R483H COADREAD 5 73931270 73931270 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:73931270delC c.1041delG c.(1039-1041)gggfs p.G347fs COADREAD 5 73931301 73931301 + Missense_Mutation SNP G G A TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr5:73931301G>A c.1010C>T c.(1009-1011)gCg>gTg p.A337V COADREAD 5 73931445 73931445 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:73931445C>T c.866G>A c.(865-867)cGa>cAa p.R289Q COADREAD 5 73932133 73932133 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:73932133G>A c.178C>T c.(178-180)Cac>Tac p.H60Y COADREAD 5 73932154 73932154 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr5:73932154C>T c.157G>A c.(157-159)Gga>Aga p.G53R DLBC 5 73930903 73930903 + Missense_Mutation SNP T T C TCGA-GR-A4D4-01A-11D-A31X-10 TCGA-GR-A4D4-10A-01D-A31X-10 g.chr5:73930903T>C c.1408A>G c.(1408-1410)Aac>Gac p.N470D ESCA 5 73930815 73930815 + Missense_Mutation SNP C C T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr5:73930815C>T c.1496G>A c.(1495-1497)gGt>gAt p.G499D ESCA 5 73931058 73931058 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr5:73931058T>C c.1253A>G c.(1252-1254)gAc>gGc p.D418G GBM 5 73931652 73931652 + Missense_Mutation SNP T T C TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr5:73931652T>C c.659A>G c.(658-660)tAt>tGt p.Y220C GBM 5 73931841 73931841 + Missense_Mutation SNP T T C TCGA-06-6701-01A-11D-1845-08 TCGA-06-6701-10A-01D-1845-08 g.chr5:73931841T>C c.470A>G c.(469-471)gAt>gGt p.D157G GBMLGG 5 73931595 73931595 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:73931595G>A c.716C>T c.(715-717)gCa>gTa p.A239V GBMLGG 5 73931652 73931652 + Missense_Mutation SNP T T C TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr5:73931652T>C c.659A>G c.(658-660)tAt>tGt p.Y220C GBMLGG 5 73931707 73931707 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:73931707G>T c.604C>A c.(604-606)Ctg>Atg p.L202M GBMLGG 5 73931761 73931761 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:73931761C>A c.550G>T c.(550-552)Gat>Tat p.D184Y GBMLGG 5 73931841 73931841 + Missense_Mutation SNP T T C TCGA-06-6701-01A-11D-1845-08 TCGA-06-6701-10A-01D-1845-08 g.chr5:73931841T>C c.470A>G c.(469-471)gAt>gGt p.D157G HNSC 5 73931269 73931269 + Silent SNP G G T TCGA-F7-A61V-01A-11D-A28R-08 TCGA-F7-A61V-10A-01D-A28U-08 g.chr5:73931269G>T c.1042C>A c.(1042-1044)Cgg>Agg p.R348R HNSC 5 73931590 73931590 + Missense_Mutation SNP G G C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr5:73931590G>C c.721C>G c.(721-723)Ctg>Gtg p.L241V HNSC 5 73931933 73931933 + Missense_Mutation SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr5:73931933C>A c.378G>T c.(376-378)atG>atT p.M126I KIPAN 5 73931537 73931537 + Missense_Mutation SNP C C G TCGA-CJ-4637-01A-02D-1386-10 TCGA-CJ-4637-11A-01D-1251-10 g.chr5:73931537C>G c.774G>C c.(772-774)aaG>aaC p.K258N KIRC 5 73931537 73931537 + Missense_Mutation SNP C C G TCGA-CJ-4637-01A-02D-1386-10 TCGA-CJ-4637-11A-01D-1251-10 g.chr5:73931537C>G c.774G>C c.(772-774)aaG>aaC p.K258N LAML 5 73930898 73930898 + Missense_Mutation SNP C C G TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 g.chr5:73930898C>G c.1413G>C c.(1411-1413)agG>agC p.R471S LGG 5 73931595 73931595 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:73931595G>A c.716C>T c.(715-717)gCa>gTa p.A239V LGG 5 73931707 73931707 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:73931707G>T c.604C>A c.(604-606)Ctg>Atg p.L202M LGG 5 73931761 73931761 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:73931761C>A c.550G>T c.(550-552)Gat>Tat p.D184Y LIHC 5 73930624 73930624 + Missense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr5:73930624C>A c.1687G>T c.(1687-1689)Gac>Tac p.D563Y LUAD 5 73931140 73931140 + Missense_Mutation SNP A A T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr5:73931140A>T c.1171T>A c.(1171-1173)Tat>Aat p.Y391N LUAD 5 73931166 73931166 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr5:73931166C>A c.1145G>T c.(1144-1146)gGc>gTc p.G382V LUAD 5 73931223 73931223 + Missense_Mutation SNP G G C TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr5:73931223G>C c.1088C>G c.(1087-1089)aCc>aGc p.T363S LUAD 5 73931234 73931234 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr5:73931234C>A c.1077G>T c.(1075-1077)tgG>tgT p.W359C LUAD 5 73931322 73931322 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr5:73931322C>G c.989G>C c.(988-990)aGa>aCa p.R330T LUAD 5 73931477 73931477 + Silent SNP C C T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr5:73931477C>T c.834G>A c.(832-834)caG>caA p.Q278Q LUAD 5 73931637 73931637 + Missense_Mutation SNP C C T TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr5:73931637C>T c.674G>A c.(673-675)cGc>cAc p.R225H LUSC 5 73932188 73932188 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:73932188C>T c.123G>A c.(121-123)caG>caA p.Q41Q OV 5 73931272 73931272 + Missense_Mutation SNP C C G TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 g.chr5:73931272C>G c.1039G>C c.(1039-1041)Ggg>Cgg p.G347R PAAD 5 73930609 73930609 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 g.chr5:73930609T>C c.1702A>G c.(1702-1704)Atc>Gtc p.I568V PAAD 5 73931214 73931214 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:73931214T>C c.1097A>G c.(1096-1098)gAg>gGg p.E366G PAAD 5 73931388 73931388 + Missense_Mutation SNP T T A TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 g.chr5:73931388T>A c.923A>T c.(922-924)gAc>gTc p.D308V PCPG 5 73931637 73931637 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 g.chr5:73931637C>T c.674G>A c.(673-675)cGc>cAc p.R225H PRAD 5 73931034 73931034 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr5:73931034A>G c.1277T>C c.(1276-1278)aTg>aCg p.M426T PRAD 5 73932281 73932281 + Silent SNP C C T TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 g.chr5:73932281C>T c.30G>A c.(28-30)aaG>aaA p.K10K READ 5 73931301 73931301 + Missense_Mutation SNP G G A TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr5:73931301G>A c.1010C>T c.(1009-1011)gCg>gTg p.A337V SARC 5 73930729 73930729 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr5:73930729G>A c.1582C>T c.(1582-1584)Cgc>Tgc p.R528C SKCM 5 73931021 73931021 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:73931021G>A c.1290C>T c.(1288-1290)ctC>ctT p.L430L SKCM 5 73931042 73931042 + Missense_Mutation SNP T T G TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr5:73931042T>G c.1269A>C c.(1267-1269)aaA>aaC p.K423N SKCM 5 73931057 73931057 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr5:73931057G>A c.1254C>T c.(1252-1254)gaC>gaT p.D418D SKCM 5 73931100 73931100 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr5:73931100G>A c.1211C>T c.(1210-1212)cCg>cTg p.P404L SKCM 5 73931133 73931133 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr5:73931133A>G c.1178T>C c.(1177-1179)gTt>gCt p.V393A SKCM 5 73931199 73931199 + Missense_Mutation SNP G G A TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr5:73931199G>A c.1112C>T c.(1111-1113)gCt>gTt p.A371V SKCM 5 73931223 73931223 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr5:73931223G>A c.1088C>T c.(1087-1089)aCc>aTc p.T363I SKCM 5 73931247 73931247 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr5:73931247G>A c.1064C>T c.(1063-1065)tCa>tTa p.S355L SKCM 5 73931360 73931360 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:73931360G>A c.951C>T c.(949-951)gcC>gcT p.A317A SKCM 5 73931417 73931417 + Silent SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr5:73931417G>A c.894C>T c.(892-894)ttC>ttT p.F298F SKCM 5 73931417 73931417 + Silent SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr5:73931417G>A c.894C>T c.(892-894)ttC>ttT p.F298F SKCM 5 73931665 73931665 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr5:73931665T>C c.646A>G c.(646-648)Aac>Gac p.N216D SKCM 5 73931666 73931666 + Silent SNP A A G TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr5:73931666A>G c.645T>C c.(643-645)atT>atC p.I215I SKCM 5 73931914 73931914 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr5:73931914G>A c.397C>T c.(397-399)Cgg>Tgg p.R133W SKCM 5 73932025 73932025 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:73932025C>T c.286G>A c.(286-288)Gaa>Aaa p.E96K SKCM 5 73932233 73932233 + Silent SNP G G A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr5:73932233G>A c.78C>T c.(76-78)tcC>tcT p.S26S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 5 73932106 73932106 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant AML-US 5 73932106 73932106 single base substitution G A downstream_gene_variant AML-US 5 73932106 73932106 single base substitution G A missense_variant R69C 205C>T AML-US 5 73932106 73932106 single base substitution G A upstream_gene_variant BLCA-US 5 73932241 73932241 single base substitution G A downstream_gene_variant BLCA-US 5 73932241 73932241 single base substitution G A intron_variant BLCA-US 5 73932241 73932241 single base substitution G A missense_variant H24Y 70C>T BLCA-US 5 73932241 73932241 single base substitution G A upstream_gene_variant BOCA-FR 5 73936115 73936115 single base substitution C A intron_variant BRCA-EU 5 73918695 73918695 single base substitution G T downstream_gene_variant BRCA-EU 5 73919514 73919514 single base substitution A G downstream_gene_variant BRCA-EU 5 73920865 73920865 single base substitution A T downstream_gene_variant BRCA-EU 5 73921027 73921027 single base substitution A G downstream_gene_variant BRCA-EU 5 73923678 73923678 single base substitution A T 3_prime_UTR_variant BRCA-EU 5 73923678 73923678 single base substitution A T downstream_gene_variant BRCA-EU 5 73924225 73924225 single base substitution T A 3_prime_UTR_variant BRCA-EU 5 73924225 73924225 single base substitution T A downstream_gene_variant BRCA-EU 5 73924580 73924580 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 73924580 73924580 single base substitution G A downstream_gene_variant BRCA-EU 5 73925401 73925401 single base substitution C A 3_prime_UTR_variant BRCA-EU 5 73925401 73925401 single base substitution C A downstream_gene_variant BRCA-EU 5 73925401 73925401 single base substitution C A exon_variant BRCA-EU 5 73925897 73925897 single base substitution C A intron_variant BRCA-EU 5 73926116 73926116 single base substitution A G intron_variant BRCA-EU 5 73926171 73926171 single base substitution T A intron_variant BRCA-EU 5 73926619 73926619 single base substitution C T intron_variant BRCA-EU 5 73926811 73926811 single base substitution C G intron_variant BRCA-EU 5 73928233 73928233 single base substitution T C downstream_gene_variant BRCA-EU 5 73928233 73928233 single base substitution T C intron_variant BRCA-EU 5 73928233 73928233 single base substitution T C upstream_gene_variant BRCA-EU 5 73931141 73931141 single base substitution C T downstream_gene_variant BRCA-EU 5 73931141 73931141 single base substitution C T synonymous_variant L317L 951G>A BRCA-EU 5 73931141 73931141 single base substitution C T synonymous_variant L390L 1170G>A BRCA-EU 5 73931141 73931141 single base substitution C T upstream_gene_variant BRCA-EU 5 73934499 73934499 single base substitution C T intron_variant BRCA-EU 5 73935062 73935062 single base substitution T G intron_variant BRCA-EU 5 73935388 73935388 single base substitution G A intron_variant BRCA-EU 5 73935390 73935390 deletion of <=200bp T - intron_variant BRCA-EU 5 73936280 73936280 single base substitution G T 5_prime_UTR_variant BRCA-EU 5 73936280 73936280 single base substitution G T intron_variant BRCA-EU 5 73937607 73937607 single base substitution C G upstream_gene_variant BRCA-EU 5 73937818 73937826 deletion of <=200bp AGCGCCCGC - upstream_gene_variant BRCA-EU 5 73938893 73938893 single base substitution C T upstream_gene_variant BRCA-EU 5 73939830 73939830 single base substitution G T upstream_gene_variant BRCA-EU 5 73940371 73940371 single base substitution A G upstream_gene_variant BRCA-EU 5 73940955 73940955 single base substitution A G upstream_gene_variant BRCA-EU 5 73941882 73941882 single base substitution C A upstream_gene_variant BRCA-FR 5 73925401 73925401 single base substitution C A 3_prime_UTR_variant BRCA-FR 5 73925401 73925401 single base substitution C A downstream_gene_variant BRCA-FR 5 73925401 73925401 single base substitution C A exon_variant BRCA-FR 5 73925897 73925897 single base substitution C A intron_variant BRCA-FR 5 73926619 73926619 single base substitution C T intron_variant BRCA-FR 5 73931907 73931907 single base substitution G A downstream_gene_variant BRCA-FR 5 73931907 73931907 single base substitution G A missense_variant A135V 404C>T BRCA-FR 5 73931907 73931907 single base substitution G A missense_variant A62V 185C>T BRCA-FR 5 73931907 73931907 single base substitution G A upstream_gene_variant BRCA-FR 5 73936280 73936280 single base substitution G T 5_prime_UTR_variant BRCA-FR 5 73936280 73936280 single base substitution G T intron_variant BRCA-FR 5 73938893 73938893 single base substitution C T upstream_gene_variant BRCA-US 5 73931216 73931216 single base substitution G A downstream_gene_variant BRCA-US 5 73931216 73931216 single base substitution G A synonymous_variant H292H 876C>T BRCA-US 5 73931216 73931216 single base substitution G A synonymous_variant H365H 1095C>T BRCA-US 5 73931216 73931216 single base substitution G A upstream_gene_variant BRCA-US 5 73931271 73931271 single base substitution C A downstream_gene_variant BRCA-US 5 73931271 73931271 single base substitution C A missense_variant G274V 821G>T BRCA-US 5 73931271 73931271 single base substitution C A missense_variant G347V 1040G>T BRCA-US 5 73931271 73931271 single base substitution C A upstream_gene_variant BRCA-US 5 73931474 73931474 single base substitution A T downstream_gene_variant BRCA-US 5 73931474 73931474 single base substitution A T missense_variant N206K 618T>A BRCA-US 5 73931474 73931474 single base substitution A T missense_variant N279K 837T>A BRCA-US 5 73931474 73931474 single base substitution A T upstream_gene_variant BRCA-US 5 73931919 73931919 single base substitution T A downstream_gene_variant BRCA-US 5 73931919 73931919 single base substitution T A missense_variant D131V 392A>T BRCA-US 5 73931919 73931919 single base substitution T A missense_variant D58V 173A>T BRCA-US 5 73931919 73931919 single base substitution T A upstream_gene_variant BTCA-JP 5 73931270 73931270 deletion of <=200bp C - downstream_gene_variant BTCA-JP 5 73931270 73931270 deletion of <=200bp C - frameshift_variant G274 BTCA-JP 5 73931270 73931270 deletion of <=200bp C - frameshift_variant G347 BTCA-JP 5 73931270 73931270 deletion of <=200bp C - upstream_gene_variant BTCA-JP 5 73931327 73931327 single base substitution G A downstream_gene_variant BTCA-JP 5 73931327 73931327 single base substitution G A synonymous_variant S255S 765C>T BTCA-JP 5 73931327 73931327 single base substitution G A synonymous_variant S328S 984C>T BTCA-JP 5 73931327 73931327 single base substitution G A upstream_gene_variant CESC-US 5 73931944 73931944 single base substitution C A downstream_gene_variant CESC-US 5 73931944 73931944 single base substitution C A missense_variant A123S 367G>T CESC-US 5 73931944 73931944 single base substitution C A missense_variant A50S 148G>T CESC-US 5 73931944 73931944 single base substitution C A upstream_gene_variant COAD-US 5 73930575 73930575 single base substitution G A downstream_gene_variant COAD-US 5 73930575 73930575 single base substitution G A missense_variant A506V 1517C>T COAD-US 5 73930575 73930575 single base substitution G A missense_variant A579V 1736C>T COAD-US 5 73930575 73930575 single base substitution G A upstream_gene_variant COAD-US 5 73930590 73930590 single base substitution G A downstream_gene_variant COAD-US 5 73930590 73930590 single base substitution G A missense_variant S501L 1502C>T COAD-US 5 73930590 73930590 single base substitution G A missense_variant S574L 1721C>T COAD-US 5 73930590 73930590 single base substitution G A upstream_gene_variant COAD-US 5 73930595 73930595 single base substitution C T downstream_gene_variant COAD-US 5 73930595 73930595 single base substitution C T synonymous_variant P499P 1497G>A COAD-US 5 73930595 73930595 single base substitution C T synonymous_variant P572P 1716G>A COAD-US 5 73930595 73930595 single base substitution C T upstream_gene_variant COAD-US 5 73930852 73930852 single base substitution C T downstream_gene_variant COAD-US 5 73930852 73930852 single base substitution C T missense_variant A414T 1240G>A COAD-US 5 73930852 73930852 single base substitution C T missense_variant A487T 1459G>A COAD-US 5 73930852 73930852 single base substitution C T upstream_gene_variant COAD-US 5 73931270 73931270 deletion of <=200bp C - downstream_gene_variant COAD-US 5 73931270 73931270 deletion of <=200bp C - frameshift_variant G274 COAD-US 5 73931270 73931270 deletion of <=200bp C - frameshift_variant G347 COAD-US 5 73931270 73931270 deletion of <=200bp C - upstream_gene_variant COAD-US 5 73931445 73931445 single base substitution C T downstream_gene_variant COAD-US 5 73931445 73931445 single base substitution C T missense_variant R216Q 647G>A COAD-US 5 73931445 73931445 single base substitution C T missense_variant R289Q 866G>A COAD-US 5 73931445 73931445 single base substitution C T upstream_gene_variant COAD-US 5 73932133 73932133 single base substitution G A 5_prime_UTR_variant COAD-US 5 73932133 73932133 single base substitution G A downstream_gene_variant COAD-US 5 73932133 73932133 single base substitution G A missense_variant H60Y 178C>T COAD-US 5 73932133 73932133 single base substitution G A upstream_gene_variant COAD-US 5 73932154 73932154 single base substitution C T 5_prime_UTR_variant COAD-US 5 73932154 73932154 single base substitution C T downstream_gene_variant COAD-US 5 73932154 73932154 single base substitution C T missense_variant G53R 157G>A COAD-US 5 73932154 73932154 single base substitution C T upstream_gene_variant COCA-CN 5 73930442 73930442 single base substitution C T downstream_gene_variant COCA-CN 5 73930442 73930442 single base substitution C T intron_variant COCA-CN 5 73930442 73930442 single base substitution C T upstream_gene_variant COCA-CN 5 73930726 73930726 single base substitution T C downstream_gene_variant COCA-CN 5 73930726 73930726 single base substitution T C missense_variant M456V 1366A>G COCA-CN 5 73930726 73930726 single base substitution T C missense_variant M529V 1585A>G COCA-CN 5 73930726 73930726 single base substitution T C upstream_gene_variant COCA-CN 5 73936115 73936115 single base substitution C G intron_variant ESAD-UK 5 73918659 73918660 deletion of <=200bp AG - downstream_gene_variant ESAD-UK 5 73918708 73918708 single base substitution T C downstream_gene_variant ESAD-UK 5 73923250 73923251 deletion of <=200bp AA - 3_prime_UTR_variant ESAD-UK 5 73923250 73923251 deletion of <=200bp AA - downstream_gene_variant ESAD-UK 5 73925921 73925921 single base substitution T A intron_variant ESAD-UK 5 73928349 73928349 single base substitution G C downstream_gene_variant ESAD-UK 5 73928349 73928349 single base substitution G C intron_variant ESAD-UK 5 73928349 73928349 single base substitution G C upstream_gene_variant ESAD-UK 5 73928414 73928414 single base substitution C G downstream_gene_variant ESAD-UK 5 73928414 73928414 single base substitution C G intron_variant ESAD-UK 5 73928414 73928414 single base substitution C G upstream_gene_variant ESAD-UK 5 73929222 73929225 deletion of <=200bp TGAT - downstream_gene_variant ESAD-UK 5 73929222 73929225 deletion of <=200bp TGAT - intron_variant ESAD-UK 5 73929222 73929225 deletion of <=200bp TGAT - upstream_gene_variant ESAD-UK 5 73930347 73930347 single base substitution C T downstream_gene_variant ESAD-UK 5 73930347 73930347 single base substitution C T intron_variant ESAD-UK 5 73930347 73930347 single base substitution C T upstream_gene_variant ESAD-UK 5 73930410 73930410 single base substitution C A downstream_gene_variant ESAD-UK 5 73930410 73930410 single base substitution C A intron_variant ESAD-UK 5 73930410 73930410 single base substitution C A upstream_gene_variant ESAD-UK 5 73931126 73931126 single base substitution C G downstream_gene_variant ESAD-UK 5 73931126 73931126 single base substitution C G synonymous_variant G322G 966G>C ESAD-UK 5 73931126 73931126 single base substitution C G synonymous_variant G395G 1185G>C ESAD-UK 5 73931126 73931126 single base substitution C G upstream_gene_variant ESAD-UK 5 73931410 73931410 single base substitution C T downstream_gene_variant ESAD-UK 5 73931410 73931410 single base substitution C T missense_variant G228R 682G>A ESAD-UK 5 73931410 73931410 single base substitution C T missense_variant G301R 901G>A ESAD-UK 5 73931410 73931410 single base substitution C T upstream_gene_variant ESAD-UK 5 73933630 73933630 single base substitution T A intron_variant ESAD-UK 5 73937452 73937452 single base substitution T C upstream_gene_variant ESAD-UK 5 73939464 73939464 single base substitution C G upstream_gene_variant ESAD-UK 5 73941372 73941372 single base substitution G C upstream_gene_variant ESCA-CN 5 73932097 73932097 single base substitution C T 5_prime_UTR_variant ESCA-CN 5 73932097 73932097 single base substitution C T downstream_gene_variant ESCA-CN 5 73932097 73932097 single base substitution C T missense_variant E72K 214G>A ESCA-CN 5 73932097 73932097 single base substitution C T upstream_gene_variant GBM-US 5 73931652 73931652 single base substitution T C downstream_gene_variant GBM-US 5 73931652 73931652 single base substitution T C missense_variant Y147C 440A>G GBM-US 5 73931652 73931652 single base substitution T C missense_variant Y220C 659A>G GBM-US 5 73931652 73931652 single base substitution T C upstream_gene_variant GBM-US 5 73931841 73931841 single base substitution T C downstream_gene_variant GBM-US 5 73931841 73931841 single base substitution T C missense_variant D157G 470A>G GBM-US 5 73931841 73931841 single base substitution T C missense_variant D84G 251A>G GBM-US 5 73931841 73931841 single base substitution T C upstream_gene_variant KIRC-US 5 73930904 73930904 single base substitution T G downstream_gene_variant KIRC-US 5 73930904 73930904 single base substitution T G missense_variant E396D 1188A>C KIRC-US 5 73930904 73930904 single base substitution T G missense_variant E469D 1407A>C KIRC-US 5 73930904 73930904 single base substitution T G upstream_gene_variant KIRC-US 5 73931537 73931537 single base substitution C G downstream_gene_variant KIRC-US 5 73931537 73931537 single base substitution C G missense_variant K185N 555G>C KIRC-US 5 73931537 73931537 single base substitution C G missense_variant K258N 774G>C KIRC-US 5 73931537 73931537 single base substitution C G upstream_gene_variant LICA-FR 5 73920952 73920952 single base substitution A G downstream_gene_variant LICA-FR 5 73930596 73930596 single base substitution G A downstream_gene_variant LICA-FR 5 73930596 73930596 single base substitution G A missense_variant P499L 1496C>T LICA-FR 5 73930596 73930596 single base substitution G A missense_variant P572L 1715C>T LICA-FR 5 73930596 73930596 single base substitution G A upstream_gene_variant LINC-JP 5 73918928 73918928 single base substitution C T downstream_gene_variant LINC-JP 5 73924069 73924069 single base substitution C A 3_prime_UTR_variant LINC-JP 5 73924069 73924069 single base substitution C A downstream_gene_variant LINC-JP 5 73931064 73931064 single base substitution T C downstream_gene_variant LINC-JP 5 73931064 73931064 single base substitution T C missense_variant H343R 1028A>G LINC-JP 5 73931064 73931064 single base substitution T C missense_variant H416R 1247A>G LINC-JP 5 73931064 73931064 single base substitution T C upstream_gene_variant LINC-JP 5 73931899 73931899 single base substitution C T downstream_gene_variant LINC-JP 5 73931899 73931899 single base substitution C T missense_variant E138K 412G>A LINC-JP 5 73931899 73931899 single base substitution C T missense_variant E65K 193G>A LINC-JP 5 73931899 73931899 single base substitution C T upstream_gene_variant LINC-JP 5 73936455 73936455 single base substitution A G 5_prime_UTR_variant LINC-JP 5 73936455 73936455 single base substitution A G splice_region_variant LIRI-JP 5 73918968 73918968 single base substitution C T downstream_gene_variant LIRI-JP 5 73919208 73919208 single base substitution T A downstream_gene_variant LIRI-JP 5 73919532 73919553 deletion of <=200bp CAGCAACCTTCTGAAAACCCAG - downstream_gene_variant LIRI-JP 5 73924182 73924182 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 73924182 73924182 single base substitution T C downstream_gene_variant LIRI-JP 5 73924912 73924912 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 73924912 73924912 single base substitution A C downstream_gene_variant LIRI-JP 5 73929074 73929074 single base substitution G A downstream_gene_variant LIRI-JP 5 73929074 73929074 single base substitution G A intron_variant LIRI-JP 5 73929074 73929074 single base substitution G A upstream_gene_variant LIRI-JP 5 73929717 73929717 single base substitution C T downstream_gene_variant LIRI-JP 5 73929717 73929717 single base substitution C T intron_variant LIRI-JP 5 73929717 73929717 single base substitution C T upstream_gene_variant LIRI-JP 5 73931747 73931747 single base substitution C T downstream_gene_variant LIRI-JP 5 73931747 73931747 single base substitution C T synonymous_variant L115L 345G>A LIRI-JP 5 73931747 73931747 single base substitution C T synonymous_variant L188L 564G>A LIRI-JP 5 73931747 73931747 single base substitution C T upstream_gene_variant LIRI-JP 5 73932148 73932148 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 5 73932148 73932148 single base substitution T C downstream_gene_variant LIRI-JP 5 73932148 73932148 single base substitution T C missense_variant R55G 163A>G LIRI-JP 5 73932148 73932148 single base substitution T C upstream_gene_variant LIRI-JP 5 73932285 73932285 single base substitution C T downstream_gene_variant LIRI-JP 5 73932285 73932285 single base substitution C T intron_variant LIRI-JP 5 73932285 73932285 single base substitution C T missense_variant R9H 26G>A LIRI-JP 5 73932285 73932285 single base substitution C T upstream_gene_variant LIRI-JP 5 73933512 73933512 single base substitution T C 5_prime_UTR_variant LIRI-JP 5 73933512 73933512 single base substitution T C intron_variant LIRI-JP 5 73934304 73934304 single base substitution T G intron_variant LIRI-JP 5 73934307 73934307 single base substitution A T intron_variant LIRI-JP 5 73935693 73935693 single base substitution G A intron_variant LIRI-JP 5 73937923 73937923 deletion of <=200bp A - upstream_gene_variant LIRI-JP 5 73939788 73939788 single base substitution A G upstream_gene_variant LUSC-KR 5 73918275 73918275 single base substitution G C downstream_gene_variant LUSC-KR 5 73930442 73930442 single base substitution C T downstream_gene_variant LUSC-KR 5 73930442 73930442 single base substitution C T intron_variant LUSC-KR 5 73930442 73930442 single base substitution C T upstream_gene_variant LUSC-KR 5 73930751 73930751 single base substitution C T downstream_gene_variant LUSC-KR 5 73930751 73930751 single base substitution C T synonymous_variant K447K 1341G>A LUSC-KR 5 73930751 73930751 single base substitution C T synonymous_variant K520K 1560G>A LUSC-KR 5 73930751 73930751 single base substitution C T upstream_gene_variant LUSC-KR 5 73931242 73931242 single base substitution C A downstream_gene_variant LUSC-KR 5 73931242 73931242 single base substitution C A missense_variant D284Y 850G>T LUSC-KR 5 73931242 73931242 single base substitution C A missense_variant D357Y 1069G>T LUSC-KR 5 73931242 73931242 single base substitution C A upstream_gene_variant LUSC-KR 5 73931246 73931246 single base substitution T C downstream_gene_variant LUSC-KR 5 73931246 73931246 single base substitution T C synonymous_variant S282S 846A>G LUSC-KR 5 73931246 73931246 single base substitution T C synonymous_variant S355S 1065A>G LUSC-KR 5 73931246 73931246 single base substitution T C upstream_gene_variant LUSC-KR 5 73931702 73931702 single base substitution C T downstream_gene_variant LUSC-KR 5 73931702 73931702 single base substitution C T synonymous_variant E130E 390G>A LUSC-KR 5 73931702 73931702 single base substitution C T synonymous_variant E203E 609G>A LUSC-KR 5 73931702 73931702 single base substitution C T upstream_gene_variant LUSC-KR 5 73934377 73934377 single base substitution C T intron_variant LUSC-KR 5 73936660 73936660 single base substitution T C 5_prime_UTR_variant LUSC-KR 5 73936660 73936660 single base substitution T C upstream_gene_variant LUSC-KR 5 73938562 73938562 single base substitution A G upstream_gene_variant LUSC-US 5 73932188 73932188 single base substitution C T downstream_gene_variant LUSC-US 5 73932188 73932188 single base substitution C T splice_acceptor_variant LUSC-US 5 73932188 73932188 single base substitution C T synonymous_variant Q41Q 123G>A LUSC-US 5 73932188 73932188 single base substitution C T upstream_gene_variant MALY-DE 5 73919548 73919548 single base substitution A C downstream_gene_variant MALY-DE 5 73927007 73927009 deletion of <=200bp ACA - intron_variant MALY-DE 5 73928562 73928562 single base substitution G A downstream_gene_variant MALY-DE 5 73928562 73928562 single base substitution G A intron_variant MALY-DE 5 73928562 73928562 single base substitution G A upstream_gene_variant MALY-DE 5 73935246 73935246 single base substitution A T intron_variant MALY-DE 5 73935302 73935302 single base substitution G A intron_variant MALY-DE 5 73941731 73941731 single base substitution A G upstream_gene_variant MELA-AU 5 73918251 73918251 single base substitution C T downstream_gene_variant MELA-AU 5 73918362 73918362 single base substitution A G downstream_gene_variant MELA-AU 5 73919238 73919238 single base substitution G A downstream_gene_variant MELA-AU 5 73919566 73919566 single base substitution C T downstream_gene_variant MELA-AU 5 73922258 73922258 single base substitution G A downstream_gene_variant MELA-AU 5 73922611 73922611 single base substitution A G downstream_gene_variant MELA-AU 5 73923677 73923677 single base substitution C T 3_prime_UTR_variant MELA-AU 5 73923677 73923677 single base substitution C T downstream_gene_variant MELA-AU 5 73923928 73923928 single base substitution C A 3_prime_UTR_variant MELA-AU 5 73923928 73923928 single base substitution C A downstream_gene_variant MELA-AU 5 73924208 73924208 single base substitution G A 3_prime_UTR_variant MELA-AU 5 73924208 73924208 single base substitution G A downstream_gene_variant MELA-AU 5 73924364 73924364 single base substitution G A 3_prime_UTR_variant MELA-AU 5 73924364 73924364 single base substitution G A downstream_gene_variant MELA-AU 5 73924552 73924552 single base substitution G A 3_prime_UTR_variant MELA-AU 5 73924552 73924552 single base substitution G A downstream_gene_variant MELA-AU 5 73925492 73925492 single base substitution G A 3_prime_UTR_variant MELA-AU 5 73925492 73925492 single base substitution G A downstream_gene_variant MELA-AU 5 73925492 73925492 single base substitution G A exon_variant MELA-AU 5 73925522 73925522 single base substitution G A 3_prime_UTR_variant MELA-AU 5 73925522 73925522 single base substitution G A downstream_gene_variant MELA-AU 5 73925522 73925522 single base substitution G A exon_variant MELA-AU 5 73926381 73926381 single base substitution C T intron_variant MELA-AU 5 73926984 73926984 single base substitution G A intron_variant MELA-AU 5 73927495 73927495 single base substitution G A downstream_gene_variant MELA-AU 5 73927495 73927495 single base substitution G A intron_variant MELA-AU 5 73927871 73927871 single base substitution A G downstream_gene_variant MELA-AU 5 73927871 73927871 single base substitution A G intron_variant MELA-AU 5 73928866 73928866 single base substitution G A downstream_gene_variant MELA-AU 5 73928866 73928866 single base substitution G A intron_variant MELA-AU 5 73928866 73928866 single base substitution G A upstream_gene_variant MELA-AU 5 73929388 73929388 single base substitution A G downstream_gene_variant MELA-AU 5 73929388 73929388 single base substitution A G intron_variant MELA-AU 5 73929388 73929388 single base substitution A G upstream_gene_variant MELA-AU 5 73929678 73929678 single base substitution G A downstream_gene_variant MELA-AU 5 73929678 73929678 single base substitution G A intron_variant MELA-AU 5 73929678 73929678 single base substitution G A upstream_gene_variant MELA-AU 5 73930023 73930024 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 73930023 73930024 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 73930023 73930024 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 73930044 73930044 single base substitution C T downstream_gene_variant MELA-AU 5 73930044 73930044 single base substitution C T intron_variant MELA-AU 5 73930044 73930044 single base substitution C T upstream_gene_variant MELA-AU 5 73931274 73931274 single base substitution C T downstream_gene_variant MELA-AU 5 73931274 73931274 single base substitution C T missense_variant G273E 818G>A MELA-AU 5 73931274 73931274 single base substitution C T missense_variant G346E 1037G>A MELA-AU 5 73931274 73931274 single base substitution C T upstream_gene_variant MELA-AU 5 73931416 73931416 single base substitution G A downstream_gene_variant MELA-AU 5 73931416 73931416 single base substitution G A missense_variant L226F 676C>T MELA-AU 5 73931416 73931416 single base substitution G A missense_variant L299F 895C>T MELA-AU 5 73931416 73931416 single base substitution G A upstream_gene_variant MELA-AU 5 73931665 73931665 single base substitution T C downstream_gene_variant MELA-AU 5 73931665 73931665 single base substitution T C missense_variant N143D 427A>G MELA-AU 5 73931665 73931665 single base substitution T C missense_variant N216D 646A>G MELA-AU 5 73931665 73931665 single base substitution T C upstream_gene_variant MELA-AU 5 73932025 73932025 single base substitution C T downstream_gene_variant MELA-AU 5 73932025 73932025 single base substitution C T missense_variant E23K 67G>A MELA-AU 5 73932025 73932025 single base substitution C T missense_variant E96K 286G>A MELA-AU 5 73932025 73932025 single base substitution C T upstream_gene_variant MELA-AU 5 73932505 73932505 single base substitution G A intron_variant MELA-AU 5 73932505 73932505 single base substitution G A upstream_gene_variant MELA-AU 5 73932557 73932557 single base substitution A G intron_variant MELA-AU 5 73932557 73932557 single base substitution A G upstream_gene_variant MELA-AU 5 73932812 73932812 single base substitution C T intron_variant MELA-AU 5 73932812 73932812 single base substitution C T upstream_gene_variant MELA-AU 5 73932931 73932931 single base substitution T G intron_variant MELA-AU 5 73932931 73932931 single base substitution T G upstream_gene_variant MELA-AU 5 73933064 73933064 single base substitution C T intron_variant MELA-AU 5 73933064 73933064 single base substitution C T upstream_gene_variant MELA-AU 5 73936618 73936618 single base substitution G A 5_prime_UTR_variant MELA-AU 5 73936618 73936618 single base substitution G A upstream_gene_variant MELA-AU 5 73937556 73937556 single base substitution C T upstream_gene_variant MELA-AU 5 73937671 73937671 single base substitution C T upstream_gene_variant MELA-AU 5 73938425 73938425 single base substitution C T upstream_gene_variant MELA-AU 5 73938529 73938529 single base substitution C G upstream_gene_variant MELA-AU 5 73938754 73938754 single base substitution G A upstream_gene_variant MELA-AU 5 73938783 73938783 single base substitution G A upstream_gene_variant MELA-AU 5 73939721 73939721 single base substitution C T upstream_gene_variant MELA-AU 5 73939858 73939858 single base substitution G A upstream_gene_variant MELA-AU 5 73940229 73940229 single base substitution C T upstream_gene_variant MELA-AU 5 73940479 73940479 single base substitution T C upstream_gene_variant MELA-AU 5 73940627 73940627 single base substitution C T upstream_gene_variant MELA-AU 5 73940817 73940817 single base substitution G A upstream_gene_variant MELA-AU 5 73941193 73941193 single base substitution C T upstream_gene_variant MELA-AU 5 73941571 73941571 single base substitution C T upstream_gene_variant MELA-AU 5 73942012 73942013 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 73942105 73942105 single base substitution A G upstream_gene_variant ORCA-IN 5 73920513 73920513 single base substitution C G downstream_gene_variant ORCA-IN 5 73930710 73930710 single base substitution A G downstream_gene_variant ORCA-IN 5 73930710 73930710 single base substitution A G missense_variant V461A 1382T>C ORCA-IN 5 73930710 73930710 single base substitution A G missense_variant V534A 1601T>C ORCA-IN 5 73930710 73930710 single base substitution A G upstream_gene_variant ORCA-IN 5 73932268 73932268 single base substitution T C downstream_gene_variant ORCA-IN 5 73932268 73932268 single base substitution T C intron_variant ORCA-IN 5 73932268 73932268 single base substitution T C missense_variant S15G 43A>G ORCA-IN 5 73932268 73932268 single base substitution T C upstream_gene_variant ORCA-IN 5 73934121 73934121 single base substitution G A intron_variant OV-AU 5 73919802 73919802 single base substitution G T downstream_gene_variant OV-AU 5 73922436 73922436 single base substitution C A downstream_gene_variant OV-AU 5 73935085 73935085 single base substitution A C intron_variant OV-AU 5 73940985 73940985 single base substitution C A upstream_gene_variant OV-US 5 73931272 73931272 single base substitution C G downstream_gene_variant OV-US 5 73931272 73931272 single base substitution C G missense_variant G274R 820G>C OV-US 5 73931272 73931272 single base substitution C G missense_variant G347R 1039G>C OV-US 5 73931272 73931272 single base substitution C G upstream_gene_variant PACA-AU 5 73923558 73923558 single base substitution C T 3_prime_UTR_variant PACA-AU 5 73923558 73923558 single base substitution C T downstream_gene_variant PACA-AU 5 73929828 73929828 single base substitution A G downstream_gene_variant PACA-AU 5 73929828 73929828 single base substitution A G intron_variant PACA-AU 5 73929828 73929828 single base substitution A G upstream_gene_variant PACA-AU 5 73930212 73930212 single base substitution G A downstream_gene_variant PACA-AU 5 73930212 73930212 single base substitution G A intron_variant PACA-AU 5 73930212 73930212 single base substitution G A upstream_gene_variant PACA-CA 5 73923290 73923290 single base substitution A T 3_prime_UTR_variant PACA-CA 5 73923290 73923290 single base substitution A T downstream_gene_variant PACA-CA 5 73926004 73926004 single base substitution G T intron_variant PACA-CA 5 73926428 73926428 single base substitution G C intron_variant PACA-CA 5 73926776 73926776 insertion of <=200bp - T intron_variant PACA-CA 5 73928278 73928278 single base substitution T C downstream_gene_variant PACA-CA 5 73928278 73928278 single base substitution T C intron_variant PACA-CA 5 73928278 73928278 single base substitution T C upstream_gene_variant PACA-CA 5 73930969 73930969 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 73930969 73930969 insertion of <=200bp - A frameshift_variant A375V? PACA-CA 5 73930969 73930969 insertion of <=200bp - A frameshift_variant A448V? PACA-CA 5 73930969 73930969 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 73938664 73938664 single base substitution C A upstream_gene_variant PACA-CA 5 73940337 73940337 single base substitution G A upstream_gene_variant PACA-CA 5 73940429 73940429 single base substitution A G upstream_gene_variant PAEN-IT 5 73930277 73930277 single base substitution A T downstream_gene_variant PAEN-IT 5 73930277 73930277 single base substitution A T intron_variant PAEN-IT 5 73930277 73930277 single base substitution A T upstream_gene_variant PBCA-DE 5 73935894 73935894 single base substitution A T intron_variant PBCA-DE 5 73939593 73939593 single base substitution C A upstream_gene_variant PBCA-DE 5 73939658 73939658 single base substitution G T upstream_gene_variant PRAD-CA 5 73934274 73934274 single base substitution A G intron_variant PRAD-CA 5 73937235 73937235 single base substitution C G 5_prime_UTR_variant PRAD-CA 5 73937235 73937235 single base substitution C G upstream_gene_variant PRAD-CA 5 73939265 73939265 single base substitution T C upstream_gene_variant PRAD-UK 5 73926345 73926345 single base substitution T A intron_variant PRAD-UK 5 73934895 73934895 single base substitution G C intron_variant PRAD-UK 5 73941062 73941062 single base substitution G T upstream_gene_variant PRAD-US 5 73931034 73931034 single base substitution A G downstream_gene_variant PRAD-US 5 73931034 73931034 single base substitution A G missense_variant M353T 1058T>C PRAD-US 5 73931034 73931034 single base substitution A G missense_variant M426T 1277T>C PRAD-US 5 73931034 73931034 single base substitution A G upstream_gene_variant READ-US 5 73931301 73931301 single base substitution G A downstream_gene_variant READ-US 5 73931301 73931301 single base substitution G A missense_variant A264V 791C>T READ-US 5 73931301 73931301 single base substitution G A missense_variant A337V 1010C>T READ-US 5 73931301 73931301 single base substitution G A upstream_gene_variant RECA-EU 5 73919167 73919167 single base substitution A T downstream_gene_variant RECA-EU 5 73922735 73922735 single base substitution T A downstream_gene_variant RECA-EU 5 73932798 73932798 single base substitution C G intron_variant RECA-EU 5 73932798 73932798 single base substitution C G upstream_gene_variant SKCA-BR 5 73922248 73922248 single base substitution A C downstream_gene_variant SKCA-BR 5 73923926 73923926 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 73923926 73923926 single base substitution G A downstream_gene_variant SKCA-BR 5 73929624 73929624 single base substitution C T downstream_gene_variant SKCA-BR 5 73929624 73929624 single base substitution C T intron_variant SKCA-BR 5 73929624 73929624 single base substitution C T upstream_gene_variant SKCA-BR 5 73930784 73930784 single base substitution A C downstream_gene_variant SKCA-BR 5 73930784 73930784 single base substitution A C stop_gained Y436* 1308T>G SKCA-BR 5 73930784 73930784 single base substitution A C stop_gained Y509* 1527T>G SKCA-BR 5 73930784 73930784 single base substitution A C upstream_gene_variant SKCA-BR 5 73933960 73933960 single base substitution C T intron_variant SKCA-BR 5 73936595 73936595 single base substitution A G 5_prime_UTR_variant SKCA-BR 5 73936595 73936595 single base substitution A G upstream_gene_variant SKCA-BR 5 73938164 73938164 single base substitution A G upstream_gene_variant SKCA-BR 5 73939975 73939975 single base substitution G A upstream_gene_variant SKCA-BR 5 73940852 73940852 single base substitution C T upstream_gene_variant SKCA-BR 5 73941221 73941221 single base substitution C T upstream_gene_variant SKCA-BR 5 73941421 73941421 single base substitution G A upstream_gene_variant SKCM-US 5 73931021 73931021 single base substitution G A downstream_gene_variant SKCM-US 5 73931021 73931021 single base substitution G A synonymous_variant L357L 1071C>T SKCM-US 5 73931021 73931021 single base substitution G A synonymous_variant L430L 1290C>T SKCM-US 5 73931021 73931021 single base substitution G A upstream_gene_variant SKCM-US 5 73931042 73931042 single base substitution T G downstream_gene_variant SKCM-US 5 73931042 73931042 single base substitution T G missense_variant K350N 1050A>C SKCM-US 5 73931042 73931042 single base substitution T G missense_variant K423N 1269A>C SKCM-US 5 73931042 73931042 single base substitution T G upstream_gene_variant SKCM-US 5 73931057 73931057 single base substitution G A downstream_gene_variant SKCM-US 5 73931057 73931057 single base substitution G A synonymous_variant D345D 1035C>T SKCM-US 5 73931057 73931057 single base substitution G A synonymous_variant D418D 1254C>T SKCM-US 5 73931057 73931057 single base substitution G A upstream_gene_variant SKCM-US 5 73931100 73931100 single base substitution G A downstream_gene_variant SKCM-US 5 73931100 73931100 single base substitution G A missense_variant P331L 992C>T SKCM-US 5 73931100 73931100 single base substitution G A missense_variant P404L 1211C>T SKCM-US 5 73931100 73931100 single base substitution G A upstream_gene_variant SKCM-US 5 73931133 73931133 single base substitution A G downstream_gene_variant SKCM-US 5 73931133 73931133 single base substitution A G missense_variant V320A 959T>C SKCM-US 5 73931133 73931133 single base substitution A G missense_variant V393A 1178T>C SKCM-US 5 73931133 73931133 single base substitution A G upstream_gene_variant SKCM-US 5 73931199 73931199 single base substitution G A downstream_gene_variant SKCM-US 5 73931199 73931199 single base substitution G A missense_variant A298V 893C>T SKCM-US 5 73931199 73931199 single base substitution G A missense_variant A371V 1112C>T SKCM-US 5 73931199 73931199 single base substitution G A upstream_gene_variant SKCM-US 5 73931223 73931223 single base substitution G A downstream_gene_variant SKCM-US 5 73931223 73931223 single base substitution G A missense_variant T290I 869C>T SKCM-US 5 73931223 73931223 single base substitution G A missense_variant T363I 1088C>T SKCM-US 5 73931223 73931223 single base substitution G A upstream_gene_variant SKCM-US 5 73931247 73931247 single base substitution G A downstream_gene_variant SKCM-US 5 73931247 73931247 single base substitution G A missense_variant S282L 845C>T SKCM-US 5 73931247 73931247 single base substitution G A missense_variant S355L 1064C>T SKCM-US 5 73931247 73931247 single base substitution G A upstream_gene_variant SKCM-US 5 73931360 73931360 single base substitution G A downstream_gene_variant SKCM-US 5 73931360 73931360 single base substitution G A synonymous_variant A244A 732C>T SKCM-US 5 73931360 73931360 single base substitution G A synonymous_variant A317A 951C>T SKCM-US 5 73931360 73931360 single base substitution G A upstream_gene_variant SKCM-US 5 73931417 73931417 single base substitution G A downstream_gene_variant SKCM-US 5 73931417 73931417 single base substitution G A synonymous_variant F225F 675C>T SKCM-US 5 73931417 73931417 single base substitution G A synonymous_variant F298F 894C>T SKCM-US 5 73931417 73931417 single base substitution G A upstream_gene_variant SKCM-US 5 73931665 73931665 single base substitution T C downstream_gene_variant SKCM-US 5 73931665 73931665 single base substitution T C missense_variant N143D 427A>G SKCM-US 5 73931665 73931665 single base substitution T C missense_variant N216D 646A>G SKCM-US 5 73931665 73931665 single base substitution T C upstream_gene_variant SKCM-US 5 73931666 73931666 single base substitution A G downstream_gene_variant SKCM-US 5 73931666 73931666 single base substitution A G synonymous_variant I142I 426T>C SKCM-US 5 73931666 73931666 single base substitution A G synonymous_variant I215I 645T>C SKCM-US 5 73931666 73931666 single base substitution A G upstream_gene_variant SKCM-US 5 73931914 73931914 single base substitution G A downstream_gene_variant SKCM-US 5 73931914 73931914 single base substitution G A missense_variant R133W 397C>T SKCM-US 5 73931914 73931914 single base substitution G A missense_variant R60W 178C>T SKCM-US 5 73931914 73931914 single base substitution G A upstream_gene_variant SKCM-US 5 73932025 73932025 single base substitution C T downstream_gene_variant SKCM-US 5 73932025 73932025 single base substitution C T missense_variant E23K 67G>A SKCM-US 5 73932025 73932025 single base substitution C T missense_variant E96K 286G>A SKCM-US 5 73932025 73932025 single base substitution C T upstream_gene_variant SKCM-US 5 73932233 73932233 single base substitution G A downstream_gene_variant SKCM-US 5 73932233 73932233 single base substitution G A intron_variant SKCM-US 5 73932233 73932233 single base substitution G A synonymous_variant S26S 78C>T SKCM-US 5 73932233 73932233 single base substitution G A upstream_gene_variant STAD-US 5 73930697 73930697 single base substitution G T downstream_gene_variant STAD-US 5 73930697 73930697 single base substitution G T missense_variant N465K 1395C>A STAD-US 5 73930697 73930697 single base substitution G T missense_variant N538K 1614C>A STAD-US 5 73930697 73930697 single base substitution G T upstream_gene_variant STAD-US 5 73931059 73931059 single base substitution C T downstream_gene_variant STAD-US 5 73931059 73931059 single base substitution C T missense_variant D345N 1033G>A STAD-US 5 73931059 73931059 single base substitution C T missense_variant D418N 1252G>A STAD-US 5 73931059 73931059 single base substitution C T upstream_gene_variant STAD-US 5 73931260 73931260 single base substitution C G downstream_gene_variant STAD-US 5 73931260 73931260 single base substitution C G missense_variant E278Q 832G>C STAD-US 5 73931260 73931260 single base substitution C G missense_variant E351Q 1051G>C STAD-US 5 73931260 73931260 single base substitution C G upstream_gene_variant STAD-US 5 73931384 73931384 single base substitution C T downstream_gene_variant STAD-US 5 73931384 73931384 single base substitution C T synonymous_variant K236K 708G>A STAD-US 5 73931384 73931384 single base substitution C T synonymous_variant K309K 927G>A STAD-US 5 73931384 73931384 single base substitution C T upstream_gene_variant STAD-US 5 73931829 73931829 single base substitution C T downstream_gene_variant STAD-US 5 73931829 73931829 single base substitution C T missense_variant C161Y 482G>A STAD-US 5 73931829 73931829 single base substitution C T missense_variant C88Y 263G>A STAD-US 5 73931829 73931829 single base substitution C T upstream_gene_variant STAD-US 5 73931937 73931937 single base substitution T C downstream_gene_variant STAD-US 5 73931937 73931937 single base substitution T C missense_variant D125G 374A>G STAD-US 5 73931937 73931937 single base substitution T C missense_variant D52G 155A>G STAD-US 5 73931937 73931937 single base substitution T C upstream_gene_variant STAD-US 5 73931957 73931957 single base substitution T C downstream_gene_variant STAD-US 5 73931957 73931957 single base substitution T C synonymous_variant E118E 354A>G STAD-US 5 73931957 73931957 single base substitution T C synonymous_variant E45E 135A>G STAD-US 5 73931957 73931957 single base substitution T C upstream_gene_variant STAD-US 5 73932117 73932117 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 5 73932117 73932117 single base substitution G A downstream_gene_variant STAD-US 5 73932117 73932117 single base substitution G A missense_variant A65V 194C>T STAD-US 5 73932117 73932117 single base substitution G A upstream_gene_variant STAD-US 5 73932218 73932218 single base substitution G A downstream_gene_variant STAD-US 5 73932218 73932218 single base substitution G A intron_variant STAD-US 5 73932218 73932218 single base substitution G A synonymous_variant S31S 93C>T STAD-US 5 73932218 73932218 single base substitution G A upstream_gene_variant THCA-US 5 73931990 73931990 single base substitution G A downstream_gene_variant THCA-US 5 73931990 73931990 single base substitution G A synonymous_variant S107S 321C>T THCA-US 5 73931990 73931990 single base substitution G A synonymous_variant S34S 102C>T THCA-US 5 73931990 73931990 single base substitution G A upstream_gene_variant UCEC-US 5 73930855 73930855 single base substitution C A downstream_gene_variant UCEC-US 5 73930855 73930855 single base substitution C A missense_variant A413S 1237G>T UCEC-US 5 73930855 73930855 single base substitution C A missense_variant A486S 1456G>T UCEC-US 5 73930855 73930855 single base substitution C A upstream_gene_variant UCEC-US 5 73931012 73931012 single base substitution G A downstream_gene_variant UCEC-US 5 73931012 73931012 single base substitution G A synonymous_variant G360G 1080C>T UCEC-US 5 73931012 73931012 single base substitution G A synonymous_variant G433G 1299C>T UCEC-US 5 73931012 73931012 single base substitution G A upstream_gene_variant UCEC-US 5 73931356 73931356 single base substitution C A downstream_gene_variant UCEC-US 5 73931356 73931356 single base substitution C A stop_gained E246* 736G>T UCEC-US 5 73931356 73931356 single base substitution C A stop_gained E319* 955G>T UCEC-US 5 73931356 73931356 single base substitution C A upstream_gene_variant UCEC-US 5 73931821 73931821 single base substitution G T downstream_gene_variant UCEC-US 5 73931821 73931821 single base substitution G T missense_variant L164M 490C>A UCEC-US 5 73931821 73931821 single base substitution G T missense_variant L91M 271C>A UCEC-US 5 73931821 73931821 single base substitution G T upstream_gene_variant UCEC-US 5 73931885 73931885 single base substitution C A downstream_gene_variant UCEC-US 5 73931885 73931885 single base substitution C A missense_variant K142N 426G>T UCEC-US 5 73931885 73931885 single base substitution C A missense_variant K69N 207G>T UCEC-US 5 73931885 73931885 single base substitution C A upstream_gene_variant UCEC-US 5 73932188 73932188 single base substitution C T downstream_gene_variant UCEC-US 5 73932188 73932188 single base substitution C T splice_acceptor_variant UCEC-US 5 73932188 73932188 single base substitution C T synonymous_variant Q41Q 123G>A UCEC-US 5 73932188 73932188 single base substitution C T upstream_gene_variant UCEC-US 5 73932196 73932196 single base substitution A C downstream_gene_variant UCEC-US 5 73932196 73932196 single base substitution A C intron_variant UCEC-US 5 73932196 73932196 single base substitution A C missense_variant L39V 115T>G UCEC-US 5 73932196 73932196 single base substitution A C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CM-6171-01 COSM1438539 c.178C>T p.H60Y Substitution - Missense 5:74636308-74636308 - TCGA-RP-A695-06 COSM4897040 c.1269A>C p.K423N Substitution - Missense 5:74635217-74635217 - HDC87 COSM4637129 c.1047G>A p.G349G Substitution - coding silent 5:74635439-74635439 - TCGA-28-5220-01 COSM3073161 c.659A>G p.Y220C Substitution - Missense 5:74635827-74635827 - LIM2405 COSM4643018 c.805G>A p.A269T Substitution - Missense 5:74635681-74635681 - PD6016a2 COSM5792800 c.1170G>A p.L390L Substitution - coding silent 5:74635316-74635316 - ESCC_160 COSM5647410 c.1103G>T p.W368L Substitution - Missense 5:74635383-74635383 - T578 COSM3073140 c.1509C>A p.F503L Substitution - Missense 5:74634977-74634977 - TCGA-AA-3510-01 COSM1438538 c.866G>A p.R289Q Substitution - Missense 5:74635620-74635620 - TCGA-AB-2987-03 COSM166544 c.1413G>C p.R471S Substitution - Missense 5:74635073-74635073 - HCC144T COSM3661942 c.412G>A p.E138K Substitution - Missense 5:74636074-74636074 - TCGA-E2-A107-01 COSM450041 c.837T>A p.N279K Substitution - Missense 5:74635649-74635649 - LP6005935-DNA_C03 COSM5035909 c.1185G>C p.G395G Substitution - coding silent 5:74635301-74635301 - TCGA-EE-A2GL-06 COSM3617848 c.894C>T p.F298F Substitution - coding silent 5:74635592-74635592 - BN20T COSM1620536 c.1247A>G p.H416R Substitution - Missense 5:74635239-74635239 - PT49 COSM5934963 c.1330C>G p.L444V Substitution - Missense 5:74635156-74635156 - LS180 COSM3073154 c.970G>A p.A324T Substitution - Missense 5:74635516-74635516 - TCGA-CJ-6030-01 COSM483028 c.1590C>T p.S530S Substitution - coding silent 5:74634896-74634896 - DLD1 COSM4625598 c.390A>G p.Q130Q Substitution - coding silent 5:74636096-74636096 - Pa20C COSM84906 c.915C>A p.F305L Substitution - Missense 5:74635571-74635571 - 2293772 COSM4607270 c.1486A>G p.I496V Substitution - Missense 5:74635000-74635000 - YUGATOR COSM5403804 c.665T>C p.L222P Substitution - Missense 5:74635821-74635821 - J83_T COSM3947698 c.1069G>T p.D357Y Substitution - Missense 5:74635417-74635417 - TARGET-20-PASBBE-04A-02D COSM5487570 c.205C>T p.R69C Substitution - Missense 5:74636281-74636281 - TCGA-EJ-7782-01 COSM3783914 c.1277T>C p.M426T Substitution - Missense 5:74635209-74635209 - TCGA-D1-A16X-01 COSM1070006 c.426G>T p.K142N Substitution - Missense 5:74636060-74636060 - CSCC-31-T COSM4487634 c.320C>T p.S107F Substitution - Missense 5:74636166-74636166 - TCGA-G4-6304-01 COSM1438535 c.1716G>A p.P572P Substitution - coding silent 5:74634770-74634770 - HCC2998 COSM3073140 c.1509C>A p.F503L Substitution - Missense 5:74634977-74634977 - TCGA-DJ-A3UN-01 COSM3373950 c.321C>T p.S107S Substitution - coding silent 5:74636165-74636165 - SJDES018-R COSM4585993 c.1108A>C p.K370Q Substitution - Missense 5:74635378-74635378 - TCGA-EE-A2MJ-06 COSM3617841 c.1290C>T p.L430L Substitution - coding silent 5:74635196-74635196 - OSCC-GB_01400111 COSM5955190 c.43A>G p.S15G Substitution - Missense 5:74636443-74636443 - TCGA-BR-8591-01 COSM3856263 c.482G>A p.C161Y Substitution - Missense 5:74636004-74636004 - TCGA-AX-A05Z-01 COSM1070009 c.115T>G p.L39V Substitution - Missense 5:74636371-74636371 - 134421 COSM320121 c.478C>T p.Q160* Substitution - Nonsense 5:74636008-74636008 - TCGA-AZ-4315-01 COSM1438534 c.1721C>T p.S574L Substitution - Missense 5:74634765-74634765 - TCGA-G4-6586-01 COSM1438540 c.157G>A p.G53R Substitution - Missense 5:74636329-74636329 - SK-OV-3 COSM1683165 c.310_319del10 p.Y104fs*87 Deletion - Frameshift 5:74636167-74636176 - SJHGG003_A COSM4968835 c.142G>A p.V48I Substitution - Missense 5:74636344-74636344 - TCGA-EE-A2MJ-06 COSM3617847 c.951C>T p.A317A Substitution - coding silent 5:74635535-74635535 - pfg103T COSM4757468 c.1715C>T p.P572L Substitution - Missense 5:74634771-74634771 - T3048 COSM4680956 c.102_105delTCAC p.H35fs*1 Deletion - Frameshift 5:74636381-74636384 - T578 COSM1070002 c.955G>T p.E319* Substitution - Nonsense 5:74635531-74635531 - TCGA-FP-A4BE-01 COSM3856266 c.194C>T p.A65V Substitution - Missense 5:74636292-74636292 - TCGA-23-1022-01 COSM74511 c.1039G>C p.G347R Substitution - Missense 5:74635447-74635447 - 36773720 COSM1644568 c.71A>T p.H24L Substitution - Missense 5:74636415-74636415 - 587342 COSM1205308 c.383A>G p.E128G Substitution - Missense 5:74636103-74636103 - CHC1531T COSM4757468 c.1715C>T p.P572L Substitution - Missense 5:74634771-74634771 - TCGA-AG-3742-01 COSM1567609 c.1010C>T p.A337V Substitution - Missense 5:74635476-74635476 - TCGA-AP-A051-01 COSM1070004 c.490C>A p.L164M Substitution - Missense 5:74635996-74635996 - TCGA-A5-A0VP-01 COSM1070000 c.1299C>T p.G433G Substitution - coding silent 5:74635187-74635187 - LS174T COSM3073170 c.125A>C p.Q42P Substitution - Missense 5:74636361-74636361 - TCGA-18-3409-01 COSM739247 c.123G>A p.Q41Q Substitution - coding silent 5:74636363-74636363 - TCGA-D7-6526-01 COSM3856259 c.1614C>A p.N538K Substitution - Missense 5:74634872-74634872 - CHC1531T COSM4757468 c.1715C>T p.P572L Substitution - Missense 5:74634771-74634771 - TCGA-ER-A19W-06 COSM4399090 c.1112C>T p.A371V Substitution - Missense 5:74635374-74635374 - TCGA-D5-5540-01 COSM1438533 c.1736C>T p.A579V Substitution - Missense 5:74634750-74634750 - TCGA-AA-3851-01 COSM295595 c.1448G>A p.R483H Substitution - Missense 5:74635038-74635038 - TCGA-BP-4164-01 COSM1137376 c.1038G>A p.G346G Substitution - coding silent 5:74635448-74635448 - T276 COSM4680953 c.1674C>T p.Y558Y Substitution - coding silent 5:74634812-74634812 - TCGA-AO-A1KT-01 COSM1486970 c.392A>T p.D131V Substitution - Missense 5:74636094-74636094 - 4472_T COSM3947697 c.1195G>A p.A399T Substitution - Missense 5:74635291-74635291 - TCGA-AA-A010-01 COSM280797 c.1675G>A p.D559N Substitution - Missense 5:74634811-74634811 - TCGA-EE-A3JE-06 COSM3920323 c.78C>T p.S26S Substitution - coding silent 5:74636408-74636408 - PT08_2 COSM5893046 c.973G>A p.D325N Substitution - Missense 5:74635513-74635513 - TCGA-06-6701-01 COSM3410410 c.470A>G p.D157G Substitution - Missense 5:74636016-74636016 - HCA7 COSM4612189 c.1185delG p.H396fs*16 Deletion - Frameshift 5:74635301-74635301 - Pat_15_B COSM3073148 c.1115C>T p.A372V Substitution - Missense 5:74635371-74635371 - TCGA-AA-3672-01 COSM266457 c.1536C>T p.N512N Substitution - coding silent 5:74634950-74634950 - HT115 COSM3073153 c.994G>T p.E332* Substitution - Nonsense 5:74635492-74635492 - HCC144 COSM3661942 c.412G>A p.E138K Substitution - Missense 5:74636074-74636074 - ESCC_152 COSM5645491 c.1690G>A p.V564M Substitution - Missense 5:74634796-74634796 - QC2-18-T2 COSM5652605 c.1659G>C p.K553N Substitution - Missense 5:74634827-74634827 - YUSCA COSM5403805 c.625C>T p.L209F Substitution - Missense 5:74635861-74635861 - 8044951 COSM3393662 c.1198A>T p.T400S Substitution - Missense 5:74635288-74635288 - QC2-32-T2 COSM5654021 c.258G>T p.E86D Substitution - Missense 5:74636228-74636228 - TCGA-CD-5802-01 COSM3856261 c.1051G>C p.E351Q Substitution - Missense 5:74635435-74635435 - TCGA-DK-A1AC-01 COSM1311306 c.70C>T p.H24Y Substitution - Missense 5:74636416-74636416 - PT08_1 COSM5893046 c.973G>A p.D325N Substitution - Missense 5:74635513-74635513 - TCGA-AP-A059-01 COSM1069998 c.1456G>T p.A486S Substitution - Missense 5:74635030-74635030 - Au3 COSM5601411 c.1116C>T p.A372A Substitution - coding silent 5:74635370-74635370 - TCGA-EE-A2MD-06 COSM3617849 c.646A>G p.N216D Substitution - Missense 5:74635840-74635840 - 90624 COSM330198 c.1544C>A p.T515N Substitution - Missense 5:74634942-74634942 - LS180 COSM3073170 c.125A>C p.Q42P Substitution - Missense 5:74636361-74636361 - TCGA-BP-4165-01 COSM3366154 c.1407A>C p.E469D Substitution - Missense 5:74635079-74635079 - T3021 COSM4680954 c.1496delG p.G499fs*26 Deletion - Frameshift 5:74634990-74634990 - TCGA-AO-A1KT-01 COSM1486969 c.1095C>T p.H365H Substitution - coding silent 5:74635391-74635391 - TCGA-ER-A2NH-06 COSM3617845 c.1088C>T p.T363I Substitution - Missense 5:74635398-74635398 - TCGA-CM-6171-01 COSM1438537 c.1041delG p.R348fs*39 Deletion - Frameshift 5:74635445-74635445 - OSCC-GB_00180111 COSM3715264 c.1601T>C p.V534A Substitution - Missense 5:74634885-74634885 - TCGA-CJ-4637-01 COSM1137377 c.774G>C p.K258N Substitution - Missense 5:74635712-74635712 - TCGA-ER-A19S-06 COSM3617850 c.645T>C p.I215I Substitution - coding silent 5:74635841-74635841 - H1155 COSM1196193 c.539G>A p.R180K Substitution - Missense 5:74635947-74635947 - LP6005935-DNA_C03 COSM5035933 c.901G>A p.G301R Substitution - Missense 5:74635585-74635585 - RK211_C01 COSM3768862 c.163A>G p.R55G Substitution - Missense 5:74636323-74636323 - MZ7-mel COSM23441 c.1749C>T p.T583T Substitution - coding silent 5:74634737-74634737 - TCGA-JW-A5VK-01 COSM4855167 c.367G>T p.A123S Substitution - Missense 5:74636119-74636119 - TCGA-CD-5801-01 COSM3856260 c.1252G>A p.D418N Substitution - Missense 5:74635234-74635234 - T3090 COSM4680955 c.325C>T p.R109W Substitution - Missense 5:74636161-74636161 - TCGA-AZ-6598-01 COSM1438536 c.1459G>A p.A487T Substitution - Missense 5:74635027-74635027 - ccRCC-66 COSM1665458 c.943delC p.Q315fs*72 Deletion - Frameshift 5:74635543-74635543 - TCGA-CD-A4MG-01 COSM3856267 c.93C>T p.S31S Substitution - coding silent 5:74636393-74636393 - ESCC_BICR_042T COSM5443843 c.214G>A p.E72K Substitution - Missense 5:74636272-74636272 - TCGA-DA-A3F3-06 COSM3617846 c.1064C>T p.S355L Substitution - Missense 5:74635422-74635422 - QC2-18-T2 COSM5652604 c.1660A>T p.T554S Substitution - Missense 5:74634826-74634826 - CRC-19T COSM5481999 c.1585A>G p.M529V Substitution - Missense 5:74634901-74634901 - TCGA-AX-A05Z-01 COSM1070002 c.955G>T p.E319* Substitution - Nonsense 5:74635531-74635531 - BD6T COSM1438537 c.1041delG p.R348fs*39 Deletion - Frameshift 5:74635445-74635445 - 587336 COSM1205307 c.733T>C p.Y245H Substitution - Missense 5:74635753-74635753 - WA29 COSM239703 c.674G>A p.R225H Substitution - Missense 5:74635812-74635812 - TCGA-ER-A2NG-06 COSM3617842 c.1254C>T p.D418D Substitution - coding silent 5:74635232-74635232 - TCGA-IN-8462-01 COSM3856262 c.927G>A p.K309K Substitution - coding silent 5:74635559-74635559 - TCGA-EE-A2ML-06 COSM3617844 c.1178T>C p.V393A Substitution - Missense 5:74635308-74635308 - LUAD-RT-S01721 COSM380607 c.445T>G p.C149G Substitution - Missense 5:74636041-74636041 - 18T COSM3715264 c.1601T>C p.V534A Substitution - Missense 5:74634885-74634885 - TCGA-BR-4257-01 COSM3856265 c.354A>G p.E118E Substitution - coding silent 5:74636132-74636132 - 48 COSM5734381 c.209_211delACT p.Y70delY Deletion - In frame 5:74636275-74636277 - TCGA-D1-A163-01 COSM739247 c.123G>A p.Q41Q Substitution - coding silent 5:74636363-74636363 - 2000756 COSM1644340 c.466_467insGT p.S156fs*39 Insertion - Frameshift 5:74636019-74636020 - TCGA-EE-A2A2-06 COSM3617851 c.397C>T p.R133W Substitution - Missense 5:74636089-74636089 - CSCC-27-T COSM1438535 c.1716G>A p.P572P Substitution - coding silent 5:74634770-74634770 - Pat_26_A COSM5868791 c.1442C>T p.P481L Substitution - Missense 5:74635044-74635044 - pfg019T COSM1642783 c.1495delG p.G499fs*26 Deletion - Frameshift 5:74634991-74634991 - ESCC_54 COSM5631550 c.1498G>C p.D500H Substitution - Missense 5:74634988-74634988 - TCGA-EE-A2GO-06 COSM3617843 c.1211C>T p.P404L Substitution - Missense 5:74635275-74635275 - MO_1012 COSM5552252 c.1397A>G p.D466G Substitution - Missense 5:74635089-74635089 - TCGA-EE-A3AA-06 COSM3617852 c.286G>A p.E96K Substitution - Missense 5:74636200-74636200 - TCGA-A7-A4SE-01 COSM3828402 c.1040G>T p.G347V Substitution - Missense 5:74635446-74635446 - TCGA-BR-4184-01 COSM3856264 c.374A>G p.D125G Substitution - Missense 5:74636112-74636112 - BD72T COSM5512115 c.984C>T p.S328S Substitution - coding silent 5:74635502-74635502 - BN20 COSM1620536 c.1247A>G p.H416R Substitution - Missense 5:74635239-74635239 - ccRCC-66 COSM1659923 c.942delC p.Q315fs*72 Deletion - Frameshift 5:74635544-74635544 - 2521243 COSM5886393 c.1051G>A p.E351K Substitution - Missense 5:74635435-74635435 - RK181_C01 COSM3768863 c.26G>A p.R9H Substitution - Missense 5:74636460-74636460 - Pat_26_B COSM5868791 c.1442C>T p.P481L Substitution - Missense 5:74635044-74635044 - YUMER COSM1695872 c.964C>T p.P322S Substitution - Missense 5:74635522-74635522 - S02219 COSM5675800 c.569A>G p.Q190R Substitution - Missense 5:74635917-74635917 - SJHGG027_D COSM4969529 c.202A>T p.S68C Substitution - Missense 5:74636284-74636284 - Gp2D COSM4628459 c.445T>C p.C149R Substitution - Missense 5:74636041-74636041 - 478 COSM1438535 c.1716G>A p.P572P Substitution - coding silent 5:74634770-74634770 - MD-274 COSM302134 c.1347C>T p.F449F Substitution - coding silent 5:74635139-74635139 - L19 COSM5369369 c.1312G>A p.A438T Substitution - Missense 5:74635174-74635174 - ccRCC-69 COSM1665457 c.1384delG p.V462fs*63 Deletion - Frameshift 5:74635102-74635102 - TCGA-ER-A19G-06 COSM3617848 c.894C>T p.F298F Substitution - coding silent 5:74635592-74635592 - RK119_C01 COSM3768861 c.564G>A p.L188L Substitution - coding silent 5:74635922-74635922 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.104920;Hs.104925 5q13 605173 2439343|CGAP|BC000418|A/G|coding|Lys520Lys|1960|Validated; 868252|dbSNP|BC000418|A/G|coding|Lys520Lys|1960|Validated; 1529431|dbSNP|BC000418|A/G|coding|Lys520Lys|1960|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V393A c.1178T>C 5 73931133 CM A G Synonymous p.I215I c.645T>C 5 73931666 CM A T Missense p.N279K c.837T>A 5 73931474 BRCA C A Missense p.F305L c.915C>A 5 73931396 PAAD C A Missense p.M126I c.378G>T 5 73931933 HNSC C A Missense p.R61L c.182G>T 5 73932129 STAD C - Frameshift p.G499Vfs*26 c.1496delG 5 73930816 STAD C G Missense p.E351Q c.1051G>C 5 73931260 STAD C G Missense p.G347R c.1039G>C 5 73931272 OV C G Missense p.K258N c.774G>C 5 73931537 RCCC C G Missense p.R330T c.989G>C 5 73931322 LUAD C G Missense p.R471S c.1413G>C 5 73930898 AML C T Missense p.D418N c.1252G>A 5 73931059 STAD C T Missense p.E96K c.286G>A 5 73932025 CM C T Missense p.G53E c.158G>A 5 73932153 CM C T Missense p.R483H c.1448G>A 5 73930863 COREAD C T Synonymous p.Q41Q c.123G>A 5 73932188 UCEC C T Synonymous p.R55R c.165G>A 5 73932146 CM G A Missense p.L459F c.1375C>T 5 73930936 ALL G A Missense p.P404L c.1211C>T 5 73931100 CM G A Missense p.R133W c.397C>T 5 73931914 CM G A Missense p.S355L c.1064C>T 5 73931247 CM G A Missense p.T363I c.1088C>T 5 73931223 CM G A Nonsense p.Q160* c.478C>T 5 73931833 SCLC G A Synonymous p.A317A c.951C>T 5 73931360 CM G A Synonymous p.D418D c.1254C>T 5 73931057 CM G A Synonymous p.F298F c.894C>T 5 73931417 CM G A Synonymous p.G433G c.1299C>T 5 73931012 UCEC G A Synonymous p.H365H c.1095C>T 5 73931216 BRCA G A Synonymous p.L430L c.1290C>T 5 73931021 CM G A Synonymous p.S107S c.321C>T 5 73931990 THCA G A Synonymous p.S26S c.78C>T 5 73932233 CM G C Missense p.L241V c.721C>G 5 73931590 HNSC G T Missense p.N538K c.1614C>A 5 73930697 STAD G T Missense p.P475Q c.1424C>A 5 73930887 STAD T A Missense p.D131V c.392A>T 5 73931919 BRCA T C 3-UTRSNV . c.1767+6362A>G 5 73924182 HC T C IntronicSNV . c.1-1202A>G 5 73933512 HC T C Missense p.D157G c.470A>G 5 73931841 GBM T C Missense p.N216D c.646A>G 5 73931665 CM T C Missense p.Y220C c.659A>G 5 73931652 GBM T C Synonymous p.E118E c.354A>G 5 73931957 STAD T G Missense p.E469D c.1407A>C 5 73930904 RCCC