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 21 44839282 44839282 + Missense_Mutation SNP G G A TCGA-BT-A20V-01A-11D-A14W-08 TCGA-BT-A20V-11A-11D-A14W-08 g.chr21:44839282G>A c.1196C>T c.(1195-1197)tCc>tTc p.S399F BLCA 21 44841220 44841220 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 g.chr21:44841220G>A c.527C>T c.(526-528)tCa>tTa p.S176L BLCA 21 44845309 44845309 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr21:44845309G>A c.251C>T c.(250-252)cCa>cTa p.P84L BLCA 21 44845317 44845317 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr21:44845317C>T c.243G>A c.(241-243)ctG>ctA p.L81L BRCA 21 44838354 44838354 + Silent SNP G G A TCGA-EW-A1IW-01A-11D-A13L-09 TCGA-EW-A1IW-10A-01D-A13O-09 g.chr21:44838354G>A c.1530C>T c.(1528-1530)acC>acT p.T510T BRCA 21 44839340 44839340 + Frame_Shift_Del DEL A A - TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr21:44839340delA c.1138delT c.(1138-1140)tccfs p.S380fs BRCA 21 44840966 44840966 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr21:44840966G>A c.672C>T c.(670-672)ttC>ttT p.F224F CESC 21 44839823 44839823 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr21:44839823G>C c.1035C>G c.(1033-1035)ctC>ctG p.L345L CHOL 21 44845977 44845977 + Missense_Mutation SNP C C G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr21:44845977C>G c.82G>C c.(82-84)Gac>Cac p.D28H COAD 21 44838141 44838141 + Splice_Site SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr21:44838141T>C c.1743A>G c.(1741-1743)caA>caG p.Q581Q COAD 21 44839068 44839068 + Missense_Mutation SNP C C T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr21:44839068C>T c.1295G>A c.(1294-1296)cGg>cAg p.R432Q COAD 21 44839300 44839300 + Missense_Mutation SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr21:44839300G>A c.1178C>T c.(1177-1179)cCg>cTg p.P393L COAD 21 44839770 44839770 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr21:44839770C>T c.1088G>A c.(1087-1089)cGg>cAg p.R363Q COAD 21 44839839 44839839 + Missense_Mutation SNP A A G TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr21:44839839A>G c.1019T>C c.(1018-1020)cTc>cCc p.L340P COAD 21 44840224 44840224 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:44840224C>T c.862G>A c.(862-864)Gcc>Acc p.A288T COAD 21 44840297 44840297 + Silent SNP G G A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr21:44840297G>A c.789C>T c.(787-789)ccC>ccT p.P263P COAD 21 44841548 44841548 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr21:44841548G>A c.469C>T c.(469-471)Ctg>Ttg p.L157L COAD 21 44841560 44841560 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr21:44841560C>T c.457G>A c.(457-459)Gag>Aag p.E153K COAD 21 44841639 44841639 + Silent SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr21:44841639C>T c.378G>A c.(376-378)gcG>gcA p.A126A COAD 21 44841645 44841645 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr21:44841645G>A c.372C>T c.(370-372)aaC>aaT p.N124N COAD 21 44845357 44845357 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr21:44845357A>G c.203T>C c.(202-204)tTg>tCg p.L68S COAD 21 44845358 44845358 + Silent SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr21:44845358A>G c.202T>C c.(202-204)Ttg>Ctg p.L68L COADREAD 21 44838141 44838141 + Splice_Site SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr21:44838141T>C c.1743A>G c.(1741-1743)caA>caG p.Q581Q COADREAD 21 44838331 44838331 + Missense_Mutation SNP G G A TCGA-F5-6702-01A-11D-1826-10 TCGA-F5-6702-10A-01D-1826-10 g.chr21:44838331G>A c.1553C>T c.(1552-1554)gCg>gTg p.A518V COADREAD 21 44839068 44839068 + Missense_Mutation SNP C C T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr21:44839068C>T c.1295G>A c.(1294-1296)cGg>cAg p.R432Q COADREAD 21 44839300 44839300 + Missense_Mutation SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr21:44839300G>A c.1178C>T c.(1177-1179)cCg>cTg p.P393L COADREAD 21 44839770 44839770 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr21:44839770C>T c.1088G>A c.(1087-1089)cGg>cAg p.R363Q COADREAD 21 44839839 44839839 + Missense_Mutation SNP A A G TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr21:44839839A>G c.1019T>C c.(1018-1020)cTc>cCc p.L340P COADREAD 21 44840224 44840224 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:44840224C>T c.862G>A c.(862-864)Gcc>Acc p.A288T COADREAD 21 44840297 44840297 + Silent SNP G G A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr21:44840297G>A c.789C>T c.(787-789)ccC>ccT p.P263P COADREAD 21 44841548 44841548 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr21:44841548G>A c.469C>T c.(469-471)Ctg>Ttg p.L157L COADREAD 21 44841560 44841560 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr21:44841560C>T c.457G>A c.(457-459)Gag>Aag p.E153K COADREAD 21 44841639 44841639 + Silent SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr21:44841639C>T c.378G>A c.(376-378)gcG>gcA p.A126A COADREAD 21 44841645 44841645 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr21:44841645G>A c.372C>T c.(370-372)aaC>aaT p.N124N COADREAD 21 44841904 44841904 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr21:44841904T>C c.287A>G c.(286-288)aAg>aGg p.K96R COADREAD 21 44845357 44845357 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr21:44845357A>G c.203T>C c.(202-204)tTg>tCg p.L68S COADREAD 21 44845357 44845357 + Missense_Mutation SNP A A G TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr21:44845357A>G c.203T>C c.(202-204)tTg>tCg p.L68S COADREAD 21 44845358 44845358 + Silent SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr21:44845358A>G c.202T>C c.(202-204)Ttg>Ctg p.L68L DLBC 21 44839263 44839263 + Missense_Mutation SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr21:44839263C>T c.1215G>A c.(1213-1215)atG>atA p.M405I ESCA 21 44837638 44837638 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr21:44837638C>T c.1761G>A c.(1759-1761)cgG>cgA p.R587R ESCA 21 44837639 44837639 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr21:44837639C>T c.1760G>A c.(1759-1761)cGg>cAg p.R587Q ESCA 21 44838214 44838214 + Frame_Shift_Del DEL C C - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr21:44838214delC c.1670delG c.(1669-1671)ggcfs p.G557fs ESCA 21 44839827 44839827 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr21:44839827C>T c.1031G>A c.(1030-1032)cGg>cAg p.R344Q ESCA 21 44840162 44840162 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr21:44840162C>T c.924G>A c.(922-924)gcG>gcA p.A308A GBM 21 44841555 44841555 + Missense_Mutation SNP G G T TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr21:44841555G>T c.462C>A c.(460-462)aaC>aaA p.N154K GBMLGG 21 44839825 44839825 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:44839825G>A c.1033C>T c.(1033-1035)Ctc>Ttc p.L345F GBMLGG 21 44841555 44841555 + Missense_Mutation SNP G G T TCGA-06-0237-01A-02D-1491-08 TCGA-06-0237-10A-01D-1491-08 g.chr21:44841555G>T c.462C>A c.(460-462)aaC>aaA p.N154K HNSC 21 44837482 44837482 + Silent SNP G G A TCGA-CN-4725-01A-01D-1434-08 TCGA-CN-4725-10A-01D-1434-08 g.chr21:44837482G>A c.1917C>T c.(1915-1917)ggC>ggT p.G639G HNSC 21 44839014 44839014 + Missense_Mutation SNP T T A TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr21:44839014T>A c.1349A>T c.(1348-1350)cAg>cTg p.Q450L HNSC 21 44841567 44841567 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr21:44841567G>C c.450C>G c.(448-450)ctC>ctG p.L150L HNSC 21 44841623 44841623 + Missense_Mutation SNP G G T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 g.chr21:44841623G>T c.394C>A c.(394-396)Caa>Aaa p.Q132K HNSC 21 44845977 44845977 + Missense_Mutation SNP C C A TCGA-CQ-A4C6-01A-11D-A25D-08 TCGA-CQ-A4C6-10A-01D-A25E-08 g.chr21:44845977C>A c.82G>T c.(82-84)Gac>Tac p.D28Y KICH 21 44837550 44837551 + Frame_Shift_Ins INS - - G TCGA-KL-8329-01A-11D-2310-10 TCGA-KL-8329-11A-01D-2310-10 g.chr21:44837550_44837551insG c.1848_1849insC c.(1846-1851)cccgccfs p.A617fs KIPAN 21 44837550 44837551 + Frame_Shift_Ins INS - - G TCGA-KL-8329-01A-11D-2310-10 TCGA-KL-8329-11A-01D-2310-10 g.chr21:44837550_44837551insG c.1848_1849insC c.(1846-1851)cccgccfs p.A617fs KIPAN 21 44838289 44838289 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 g.chr21:44838289G>A c.1595C>T c.(1594-1596)gCc>gTc p.A532V KIPAN 21 44838412 44838412 + Missense_Mutation SNP A A T TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr21:44838412A>T c.1472T>A c.(1471-1473)gTc>gAc p.V491D KIPAN 21 44840177 44840177 + Silent SNP G G A TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr21:44840177G>A c.909C>T c.(907-909)gaC>gaT p.D303D KIPAN 21 44841223 44841223 + Missense_Mutation SNP T T C TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr21:44841223T>C c.524A>G c.(523-525)aAg>aGg p.K175R KIRC 21 44838289 44838289 + Missense_Mutation SNP G G A TCGA-B0-5084-01A-01D-1462-08 TCGA-B0-5084-11A-01D-1462-08 g.chr21:44838289G>A c.1595C>T c.(1594-1596)gCc>gTc p.A532V KIRC 21 44840177 44840177 + Silent SNP G G A TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr21:44840177G>A c.909C>T c.(907-909)gaC>gaT p.D303D KIRP 21 44838412 44838412 + Missense_Mutation SNP A A T TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr21:44838412A>T c.1472T>A c.(1471-1473)gTc>gAc p.V491D KIRP 21 44841223 44841223 + Missense_Mutation SNP T T C TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr21:44841223T>C c.524A>G c.(523-525)aAg>aGg p.K175R LGG 21 44839825 44839825 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:44839825G>A c.1033C>T c.(1033-1035)Ctc>Ttc p.L345F LIHC 21 44837443 44837443 + Missense_Mutation SNP C C A TCGA-UB-A7ME-01A-11D-A33K-10 TCGA-UB-A7ME-10A-01D-A33K-10 g.chr21:44837443C>A c.1956G>T c.(1954-1956)gaG>gaT p.E652D LIHC 21 44838314 44838314 + Missense_Mutation SNP G G A TCGA-CC-5259-01A-31D-A20W-10 TCGA-CC-5259-10A-01D-A20W-10 g.chr21:44838314G>A c.1570C>T c.(1570-1572)Ccg>Tcg p.P524S LIHC 21 44838373 44838373 + Missense_Mutation SNP C C T TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr21:44838373C>T c.1511G>A c.(1510-1512)aGc>aAc p.S504N LIHC 21 44838374 44838374 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr21:44838374T>C c.1510A>G c.(1510-1512)Agc>Ggc p.S504G LIHC 21 44839238 44839238 + Nonsense_Mutation SNP G G A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr21:44839238G>A c.1240C>T c.(1240-1242)Cag>Tag p.Q414* LIHC 21 44841639 44841639 + Silent SNP C C T TCGA-BC-A69H-01A-11D-A30V-10 TCGA-BC-A69H-10A-01D-A30V-10 g.chr21:44841639C>T c.378G>A c.(376-378)gcG>gcA p.A126A LIHC 21 44845966 44845966 + Silent SNP C C T TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr21:44845966C>T c.93G>A c.(91-93)cgG>cgA p.R31R LUAD 21 44836666 44836666 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr21:44836666C>T c.2308G>A c.(2308-2310)Gac>Aac p.D770N LUAD 21 44838254 44838254 + Missense_Mutation SNP C C A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr21:44838254C>A c.1630G>T c.(1630-1632)Ggg>Tgg p.G544W LUAD 21 44838388 44838388 + Missense_Mutation SNP G G A TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr21:44838388G>A c.1496C>T c.(1495-1497)cCt>cTt p.P499L LUAD 21 44839252 44839252 + Missense_Mutation SNP A A C TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 g.chr21:44839252A>C c.1226T>G c.(1225-1227)cTc>cGc p.L409R LUAD 21 44839845 44839845 + Missense_Mutation SNP T T C TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr21:44839845T>C c.1013A>G c.(1012-1014)tAt>tGt p.Y338C LUAD 21 44840290 44840290 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr21:44840290G>A c.796C>T c.(796-798)Cgc>Tgc p.R266C LUAD 21 44841183 44841184 + Frame_Shift_Ins INS - - G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 g.chr21:44841183_44841184insG c.563_564insC c.(562-564)ccgfs p.P188fs LUAD 21 44845963 44845963 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr21:44845963G>T c.96C>A c.(94-96)acC>acA p.T32T LUSC 21 44837498 44837498 + Missense_Mutation SNP C C T TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr21:44837498C>T c.1901G>A c.(1900-1902)aGc>aAc p.S634N LUSC 21 44845334 44845334 + Missense_Mutation SNP G G C TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr21:44845334G>C c.226C>G c.(226-228)Cag>Gag p.Q76E OV 21 44836633 44836633 + Missense_Mutation SNP G G C TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 g.chr21:44836633G>C c.2341C>G c.(2341-2343)Ctg>Gtg p.L781V OV 21 44836782 44836782 + Missense_Mutation SNP T T A TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 g.chr21:44836782T>A c.2192A>T c.(2191-2193)cAc>cTc p.H731L PAAD 21 44839359 44839359 + Splice_Site SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:44839359C>A c.e10-1 PCPG 21 44837473 44837473 + Silent SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 g.chr21:44837473G>A c.1926C>T c.(1924-1926)gcC>gcT p.A642A READ 21 44838331 44838331 + Missense_Mutation SNP G G A TCGA-F5-6702-01A-11D-1826-10 TCGA-F5-6702-10A-01D-1826-10 g.chr21:44838331G>A c.1553C>T c.(1552-1554)gCg>gTg p.A518V READ 21 44841904 44841904 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr21:44841904T>C c.287A>G c.(286-288)aAg>aGg p.K96R READ 21 44845357 44845357 + Missense_Mutation SNP A A G TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr21:44845357A>G c.203T>C c.(202-204)tTg>tCg p.L68S SARC 21 44836772 44836772 + Silent SNP A A T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 g.chr21:44836772A>T c.2202T>A c.(2200-2202)atT>atA p.I734I SARC 21 44839073 44839073 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr21:44839073C>T c.1290G>A c.(1288-1290)cgG>cgA p.R430R SARC 21 44839074 44839074 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr21:44839074C>T c.1289G>A c.(1288-1290)cGg>cAg p.R430Q SARC 21 44839293 44839293 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr21:44839293G>A c.1185C>T c.(1183-1185)acC>acT p.T395T SKCM 21 44836679 44836679 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr21:44836679G>A c.2295C>T c.(2293-2295)gaC>gaT p.D765D SKCM 21 44836750 44836750 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr21:44836750G>A c.2224C>T c.(2224-2226)Ccc>Tcc p.P742S SKCM 21 44836900 44836900 + Missense_Mutation SNP G G A TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr21:44836900G>A c.2074C>T c.(2074-2076)Cct>Tct p.P692S SKCM 21 44836901 44836901 + Silent SNP G G A TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr21:44836901G>A c.2073C>T c.(2071-2073)ggC>ggT p.G691G SKCM 21 44836945 44836945 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr21:44836945G>A c.2029C>T c.(2029-2031)Ccc>Tcc p.P677S SKCM 21 44837464 44837464 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr21:44837464C>T c.1935G>A c.(1933-1935)cgG>cgA p.R645R SKCM 21 44837465 44837465 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr21:44837465C>T c.1934G>A c.(1933-1935)cGg>cAg p.R645Q SKCM 21 44837515 44837515 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr21:44837515G>A c.1884C>T c.(1882-1884)ttC>ttT p.F628F SKCM 21 44837539 44837539 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr21:44837539G>A c.1860C>T c.(1858-1860)gcC>gcT p.A620A SKCM 21 44837584 44837584 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr21:44837584G>A c.1815C>T c.(1813-1815)atC>atT p.I605I SKCM 21 44838314 44838314 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr21:44838314G>A c.1570C>T c.(1570-1572)Ccg>Tcg p.P524S SKCM 21 44839251 44839251 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr21:44839251G>A c.1227C>T c.(1225-1227)ctC>ctT p.L409L SKCM 21 44840298 44840298 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr21:44840298G>A c.788C>T c.(787-789)cCc>cTc p.P263L SKCM 21 44840966 44840966 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr21:44840966G>A c.672C>T c.(670-672)ttC>ttT p.F224F SKCM 21 44841138 44841138 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr21:44841138G>A c.609C>T c.(607-609)ccC>ccT p.P203P SKCM 21 44841184 44841184 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr21:44841184G>A c.563C>T c.(562-564)cCg>cTg p.P188L SKCM 21 44841227 44841227 + Missense_Mutation SNP A A T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr21:44841227A>T c.520T>A c.(520-522)Tac>Aac p.Y174N SKCM 21 44841562 44841562 + Missense_Mutation SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr21:44841562G>A c.455C>T c.(454-456)aCc>aTc p.T152I SKCM 21 44841617 44841617 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr21:44841617G>A c.400C>T c.(400-402)Ctg>Ttg p.L134L SKCM 21 44846015 44846015 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr21:44846015C>T c.44G>A c.(43-45)gGt>gAt p.G15D

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 21 44838151 44838151 single base substitution G A downstream_gene_variant BLCA-CN 21 44838151 44838151 single base substitution G A missense_variant S578L 1733C>T BLCA-CN 21 44840138 44840138 single base substitution G A downstream_gene_variant BLCA-CN 21 44840138 44840138 single base substitution G A synonymous_variant G316G 948C>T BLCA-CN 21 44840275 44840275 single base substitution G T downstream_gene_variant BLCA-CN 21 44840275 44840275 single base substitution G T missense_variant Q271K 811C>A BLCA-CN 21 44845326 44845326 single base substitution C T missense_variant M78I 234G>A BLCA-CN 21 44845326 44845326 single base substitution C T upstream_gene_variant BRCA-EU 21 44831486 44831486 single base substitution T C downstream_gene_variant BRCA-EU 21 44831650 44831650 single base substitution C T downstream_gene_variant BRCA-EU 21 44832165 44832165 single base substitution C G downstream_gene_variant BRCA-EU 21 44832938 44832938 single base substitution A G downstream_gene_variant BRCA-EU 21 44833173 44833173 single base substitution C A downstream_gene_variant BRCA-EU 21 44833746 44833746 single base substitution G T downstream_gene_variant BRCA-EU 21 44833811 44833811 single base substitution C T downstream_gene_variant BRCA-EU 21 44835179 44835179 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 44835311 44835311 single base substitution G A 3_prime_UTR_variant BRCA-EU 21 44836457 44836457 single base substitution C A 3_prime_UTR_variant BRCA-EU 21 44836457 44836457 single base substitution C A downstream_gene_variant BRCA-EU 21 44838721 44838721 single base substitution C G downstream_gene_variant BRCA-EU 21 44838721 44838721 single base substitution C G intron_variant BRCA-EU 21 44839111 44839111 single base substitution A G downstream_gene_variant BRCA-EU 21 44839111 44839111 single base substitution A G missense_variant F418L 1252T>C BRCA-EU 21 44839243 44839243 single base substitution G A downstream_gene_variant BRCA-EU 21 44839243 44839243 single base substitution G A missense_variant S412L 1235C>T BRCA-EU 21 44841696 44841696 single base substitution C A exon_variant BRCA-EU 21 44841696 44841696 single base substitution C A intron_variant BRCA-EU 21 44841756 44841756 single base substitution C T exon_variant BRCA-EU 21 44841756 44841756 single base substitution C T intron_variant BRCA-EU 21 44842115 44842115 single base substitution T G intron_variant BRCA-EU 21 44842115 44842115 single base substitution T G upstream_gene_variant BRCA-EU 21 44846194 44846194 single base substitution C T intron_variant BRCA-EU 21 44846194 44846194 single base substitution C T upstream_gene_variant BRCA-EU 21 44847166 44847166 single base substitution C G upstream_gene_variant BRCA-EU 21 44847210 44847210 single base substitution G C upstream_gene_variant BRCA-EU 21 44847250 44847250 single base substitution C A upstream_gene_variant BRCA-EU 21 44849203 44849203 single base substitution G A upstream_gene_variant BRCA-EU 21 44849670 44849670 single base substitution G A upstream_gene_variant BRCA-FR 21 44847250 44847250 single base substitution C A upstream_gene_variant BRCA-KR 21 44841593 44841593 single base substitution C T exon_variant BRCA-KR 21 44841593 44841593 single base substitution C T missense_variant D142N 424G>A BRCA-US 21 44838354 44838354 single base substitution G A downstream_gene_variant BRCA-US 21 44838354 44838354 single base substitution G A synonymous_variant T510T 1530C>T BRCA-US 21 44839340 44839340 deletion of <=200bp A - downstream_gene_variant BRCA-US 21 44839340 44839340 deletion of <=200bp A - frameshift_variant S380 BRCA-US 21 44840966 44840966 single base substitution G A downstream_gene_variant BRCA-US 21 44840966 44840966 single base substitution G A synonymous_variant F224F 672C>T BTCA-JP 21 44838237 44838237 single base substitution G A downstream_gene_variant BTCA-JP 21 44838237 44838237 single base substitution G A synonymous_variant T549T 1647C>T BTCA-JP 21 44838928 44838928 single base substitution T G downstream_gene_variant BTCA-JP 21 44838928 44838928 single base substitution T G missense_variant T479P 1435A>C BTCA-JP 21 44839725 44839725 single base substitution C T downstream_gene_variant BTCA-JP 21 44839725 44839725 single base substitution C T intron_variant BTCA-JP 21 44840332 44840333 deletion of <=200bp CA - downstream_gene_variant BTCA-JP 21 44840332 44840333 deletion of <=200bp CA - frameshift_variant CE251 BTCA-JP 21 44842055 44842055 single base substitution A C intron_variant BTCA-JP 21 44842055 44842055 single base substitution A C upstream_gene_variant CESC-US 21 44839823 44839823 single base substitution G C downstream_gene_variant CESC-US 21 44839823 44839823 single base substitution G C synonymous_variant L345L 1035C>G CLLE-ES 21 44829940 44829942 deletion of <=200bp TTG - downstream_gene_variant CLLE-ES 21 44830256 44830256 single base substitution T C downstream_gene_variant CLLE-ES 21 44831563 44831563 single base substitution G T downstream_gene_variant CLLE-ES 21 44833334 44833334 single base substitution T G downstream_gene_variant CLLE-ES 21 44834684 44834684 single base substitution G A 3_prime_UTR_variant COAD-US 21 44837551 44837551 single base substitution G A downstream_gene_variant COAD-US 21 44837551 44837551 single base substitution G A synonymous_variant P616P 1848C>T COAD-US 21 44838345 44838345 single base substitution C T downstream_gene_variant COAD-US 21 44838345 44838345 single base substitution C T synonymous_variant A513A 1539G>A COAD-US 21 44839068 44839068 single base substitution C T downstream_gene_variant COAD-US 21 44839068 44839068 single base substitution C T missense_variant R432Q 1295G>A COAD-US 21 44839300 44839300 single base substitution G A downstream_gene_variant COAD-US 21 44839300 44839300 single base substitution G A missense_variant P393L 1178C>T COAD-US 21 44839770 44839770 single base substitution C T downstream_gene_variant COAD-US 21 44839770 44839770 single base substitution C T missense_variant R363Q 1088G>A COAD-US 21 44840224 44840224 single base substitution C T downstream_gene_variant COAD-US 21 44840224 44840224 single base substitution C T missense_variant A288T 862G>A COAD-US 21 44840297 44840297 single base substitution G A downstream_gene_variant COAD-US 21 44840297 44840297 single base substitution G A synonymous_variant P263P 789C>T COAD-US 21 44841548 44841548 single base substitution G A exon_variant COAD-US 21 44841548 44841548 single base substitution G A synonymous_variant L157L 469C>T COAD-US 21 44841639 44841639 single base substitution C T exon_variant COAD-US 21 44841639 44841639 single base substitution C T synonymous_variant A126A 378G>A COAD-US 21 44846016 44846016 single base substitution C T missense_variant G15S 43G>A COAD-US 21 44846016 44846016 single base substitution C T upstream_gene_variant COCA-CN 21 44836538 44836538 single base substitution C A 3_prime_UTR_variant COCA-CN 21 44836538 44836538 single base substitution C A downstream_gene_variant COCA-CN 21 44836886 44836886 single base substitution C T downstream_gene_variant COCA-CN 21 44836886 44836886 single base substitution C T synonymous_variant P696P 2088G>A COCA-CN 21 44841170 44841170 single base substitution C T exon_variant COCA-CN 21 44841170 44841170 single base substitution C T missense_variant E193K 577G>A COCA-CN 21 44841338 44841338 single base substitution C T intron_variant COCA-CN 21 44841806 44841806 single base substitution G A exon_variant COCA-CN 21 44841806 44841806 single base substitution G A intron_variant ESAD-UK 21 44830767 44830767 single base substitution C T downstream_gene_variant ESAD-UK 21 44831562 44831562 single base substitution A T downstream_gene_variant ESAD-UK 21 44835407 44835407 single base substitution G A 3_prime_UTR_variant ESAD-UK 21 44838169 44838169 single base substitution C A downstream_gene_variant ESAD-UK 21 44838169 44838169 single base substitution C A missense_variant R572L 1715G>T ESAD-UK 21 44841254 44841254 single base substitution G A splice_region_variant ESAD-UK 21 44842350 44842350 single base substitution C G intron_variant ESAD-UK 21 44842350 44842350 single base substitution C G upstream_gene_variant ESAD-UK 21 44843469 44843469 single base substitution A C intron_variant ESAD-UK 21 44843469 44843469 single base substitution A C upstream_gene_variant ESAD-UK 21 44844534 44844536 deletion of <=200bp CTT - intron_variant ESAD-UK 21 44844534 44844536 deletion of <=200bp CTT - upstream_gene_variant ESAD-UK 21 44851058 44851058 single base substitution T A upstream_gene_variant ESCA-CN 21 44840317 44840317 single base substitution G A downstream_gene_variant ESCA-CN 21 44840317 44840317 single base substitution G A missense_variant R257C 769C>T ESCA-CN 21 44845327 44845327 single base substitution A C missense_variant M78R 233T>G ESCA-CN 21 44845327 44845327 single base substitution A C upstream_gene_variant GACA-CN 21 44845290 44845290 single base substitution G A synonymous_variant Y90Y 270C>T GACA-CN 21 44845290 44845290 single base substitution G A upstream_gene_variant GBM-US 21 44841555 44841555 single base substitution G T exon_variant GBM-US 21 44841555 44841555 single base substitution G T missense_variant N154K 462C>A KIRC-US 21 44840177 44840177 single base substitution G A downstream_gene_variant KIRC-US 21 44840177 44840177 single base substitution G A synonymous_variant D303D 909C>T KIRC-US 21 44841005 44841005 single base substitution G T exon_variant KIRC-US 21 44841005 44841005 single base substitution G T synonymous_variant G211G 633C>A KIRP-US 21 44841223 44841223 single base substitution T C exon_variant KIRP-US 21 44841223 44841223 single base substitution T C missense_variant K175R 524A>G LAML-KR 21 44841770 44841770 single base substitution G A exon_variant LAML-KR 21 44841770 44841770 single base substitution G A intron_variant LICA-CN 21 44836742 44836742 single base substitution C T downstream_gene_variant LICA-CN 21 44836742 44836742 single base substitution C T synonymous_variant V744V 2232G>A LICA-FR 21 44838263 44838263 single base substitution G A downstream_gene_variant LICA-FR 21 44838263 44838263 single base substitution G A missense_variant P541S 1621C>T LICA-FR 21 44839797 44839797 single base substitution G C downstream_gene_variant LICA-FR 21 44839797 44839797 single base substitution G C missense_variant A354G 1061C>G LIHC-US 21 44837443 44837443 single base substitution C A downstream_gene_variant LIHC-US 21 44837443 44837443 single base substitution C A missense_variant E652D 1956G>T LIHC-US 21 44838314 44838314 single base substitution G A downstream_gene_variant LIHC-US 21 44838314 44838314 single base substitution G A missense_variant P524S 1570C>T LIHC-US 21 44838374 44838374 single base substitution T C downstream_gene_variant LIHC-US 21 44838374 44838374 single base substitution T C missense_variant S504G 1510A>G LIHC-US 21 44841639 44841639 single base substitution C T exon_variant LIHC-US 21 44841639 44841639 single base substitution C T synonymous_variant A126A 378G>A LIHC-US 21 44845966 44845966 single base substitution C T synonymous_variant R31R 93G>A LIHC-US 21 44845966 44845966 single base substitution C T upstream_gene_variant LINC-JP 21 44845210 44845210 single base substitution T C intron_variant LINC-JP 21 44845210 44845210 single base substitution T C upstream_gene_variant LINC-JP 21 44848245 44848245 single base substitution G A upstream_gene_variant LIRI-JP 21 44831381 44831381 single base substitution C A downstream_gene_variant LIRI-JP 21 44831532 44831532 single base substitution G A downstream_gene_variant LIRI-JP 21 44833019 44833019 single base substitution A G downstream_gene_variant LIRI-JP 21 44833288 44833288 single base substitution G T downstream_gene_variant LIRI-JP 21 44835888 44835888 single base substitution C T 3_prime_UTR_variant LIRI-JP 21 44841145 44841145 single base substitution T C exon_variant LIRI-JP 21 44841145 44841145 single base substitution T C missense_variant E201G 602A>G LIRI-JP 21 44841879 44841879 single base substitution T C exon_variant LIRI-JP 21 44841879 44841879 single base substitution T C synonymous_variant E104E 312A>G LIRI-JP 21 44842335 44842335 single base substitution T A intron_variant LIRI-JP 21 44842335 44842335 single base substitution T A upstream_gene_variant LIRI-JP 21 44848992 44848992 single base substitution C G upstream_gene_variant LUSC-KR 21 44838238 44838238 single base substitution G A downstream_gene_variant LUSC-KR 21 44838238 44838238 single base substitution G A missense_variant T549I 1646C>T LUSC-KR 21 44841036 44841036 single base substitution A G intron_variant LUSC-KR 21 44841052 44841052 single base substitution T C intron_variant LUSC-KR 21 44848234 44848234 single base substitution C T upstream_gene_variant LUSC-KR 21 44848731 44848731 single base substitution C A upstream_gene_variant LUSC-KR 21 44848733 44848733 single base substitution A G upstream_gene_variant LUSC-US 21 44837498 44837498 single base substitution C T downstream_gene_variant LUSC-US 21 44837498 44837498 single base substitution C T missense_variant S634N 1901G>A LUSC-US 21 44845334 44845334 single base substitution G C missense_variant Q76E 226C>G LUSC-US 21 44845334 44845334 single base substitution G C upstream_gene_variant MALY-DE 21 44843704 44843704 single base substitution G A intron_variant MALY-DE 21 44843704 44843704 single base substitution G A upstream_gene_variant MALY-DE 21 44845296 44845296 single base substitution C G missense_variant K88N 264G>C MALY-DE 21 44845296 44845296 single base substitution C G upstream_gene_variant MALY-DE 21 44846444 44846444 single base substitution G A intron_variant MALY-DE 21 44846444 44846444 single base substitution G A upstream_gene_variant MELA-AU 21 44829736 44829736 single base substitution C T downstream_gene_variant MELA-AU 21 44830030 44830030 single base substitution G A downstream_gene_variant MELA-AU 21 44830120 44830120 single base substitution C T downstream_gene_variant MELA-AU 21 44830529 44830529 single base substitution G A downstream_gene_variant MELA-AU 21 44830662 44830662 single base substitution C T downstream_gene_variant MELA-AU 21 44831156 44831156 single base substitution C T downstream_gene_variant MELA-AU 21 44831332 44831332 single base substitution G A downstream_gene_variant MELA-AU 21 44831617 44831617 single base substitution C T downstream_gene_variant MELA-AU 21 44831630 44831630 single base substitution G A downstream_gene_variant MELA-AU 21 44832043 44832043 single base substitution C T downstream_gene_variant MELA-AU 21 44832378 44832378 single base substitution C T downstream_gene_variant MELA-AU 21 44832379 44832380 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 44833541 44833541 single base substitution C T downstream_gene_variant MELA-AU 21 44834381 44834381 single base substitution G A downstream_gene_variant MELA-AU 21 44834684 44834684 single base substitution G C 3_prime_UTR_variant MELA-AU 21 44834819 44834819 single base substitution G A 3_prime_UTR_variant MELA-AU 21 44834890 44834891 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 21 44834953 44834953 single base substitution C T 3_prime_UTR_variant MELA-AU 21 44835578 44835578 single base substitution T A 3_prime_UTR_variant MELA-AU 21 44835921 44835921 single base substitution G A 3_prime_UTR_variant MELA-AU 21 44836306 44836306 single base substitution G A 3_prime_UTR_variant MELA-AU 21 44836306 44836306 single base substitution G A downstream_gene_variant MELA-AU 21 44836750 44836751 multiple base substitution (>=2bp and <=200bp) GG TT downstream_gene_variant MELA-AU 21 44836750 44836751 multiple base substitution (>=2bp and <=200bp) GG TT missense_variant LP741LT MELA-AU 21 44837408 44837408 single base substitution G A downstream_gene_variant MELA-AU 21 44837408 44837408 single base substitution G A intron_variant MELA-AU 21 44837461 44837461 single base substitution C T downstream_gene_variant MELA-AU 21 44837461 44837461 single base substitution C T synonymous_variant E646E 1938G>A MELA-AU 21 44837465 44837465 single base substitution C T downstream_gene_variant MELA-AU 21 44837465 44837465 single base substitution C T missense_variant R645Q 1934G>A MELA-AU 21 44837887 44837887 single base substitution C T downstream_gene_variant MELA-AU 21 44837887 44837887 single base substitution C T intron_variant MELA-AU 21 44838012 44838012 single base substitution G A downstream_gene_variant MELA-AU 21 44838012 44838012 single base substitution G A intron_variant MELA-AU 21 44838153 44838153 single base substitution G A downstream_gene_variant MELA-AU 21 44838153 44838153 single base substitution G A synonymous_variant T577T 1731C>T MELA-AU 21 44838283 44838283 single base substitution G A downstream_gene_variant MELA-AU 21 44838283 44838283 single base substitution G A missense_variant S534F 1601C>T MELA-AU 21 44838334 44838334 single base substitution G A downstream_gene_variant MELA-AU 21 44838334 44838334 single base substitution G A missense_variant P517L 1550C>T MELA-AU 21 44839572 44839572 single base substitution G A downstream_gene_variant MELA-AU 21 44839572 44839572 single base substitution G A intron_variant MELA-AU 21 44840283 44840283 single base substitution G A downstream_gene_variant MELA-AU 21 44840283 44840283 single base substitution G A missense_variant T268I 803C>T MELA-AU 21 44840298 44840298 single base substitution G A downstream_gene_variant MELA-AU 21 44840298 44840298 single base substitution G A missense_variant P263L 788C>T MELA-AU 21 44840317 44840317 single base substitution G A downstream_gene_variant MELA-AU 21 44840317 44840317 single base substitution G A missense_variant R257C 769C>T MELA-AU 21 44840730 44840730 insertion of <=200bp - CCTCG downstream_gene_variant MELA-AU 21 44840730 44840730 insertion of <=200bp - CCTCG intron_variant MELA-AU 21 44840971 44840971 single base substitution G A downstream_gene_variant MELA-AU 21 44840971 44840971 single base substitution G A missense_variant P223S 667C>T MELA-AU 21 44841119 44841119 single base substitution C T splice_region_variant MELA-AU 21 44841463 44841463 single base substitution G A intron_variant MELA-AU 21 44841539 44841539 single base substitution T C exon_variant MELA-AU 21 44841539 44841539 single base substitution T C missense_variant N160D 478A>G MELA-AU 21 44841627 44841627 deletion of <=200bp G - exon_variant MELA-AU 21 44841627 44841627 deletion of <=200bp G - frameshift_variant F130 MELA-AU 21 44841888 44841888 single base substitution G A synonymous_variant I101I 303C>T MELA-AU 21 44841888 44841888 single base substitution G A upstream_gene_variant MELA-AU 21 44842053 44842053 single base substitution G A intron_variant MELA-AU 21 44842053 44842053 single base substitution G A upstream_gene_variant MELA-AU 21 44842082 44842082 single base substitution G A intron_variant MELA-AU 21 44842082 44842082 single base substitution G A upstream_gene_variant MELA-AU 21 44842650 44842650 single base substitution G A intron_variant MELA-AU 21 44842650 44842650 single base substitution G A upstream_gene_variant MELA-AU 21 44842666 44842666 single base substitution C T intron_variant MELA-AU 21 44842666 44842666 single base substitution C T upstream_gene_variant MELA-AU 21 44843569 44843569 single base substitution G A intron_variant MELA-AU 21 44843569 44843569 single base substitution G A upstream_gene_variant MELA-AU 21 44844375 44844375 single base substitution G A intron_variant MELA-AU 21 44844375 44844375 single base substitution G A upstream_gene_variant MELA-AU 21 44844875 44844875 single base substitution G A intron_variant MELA-AU 21 44844875 44844875 single base substitution G A upstream_gene_variant MELA-AU 21 44845532 44845536 deletion of <=200bp AAGAA - intron_variant MELA-AU 21 44845532 44845536 deletion of <=200bp AAGAA - upstream_gene_variant MELA-AU 21 44847088 44847088 single base substitution C T upstream_gene_variant MELA-AU 21 44847182 44847182 single base substitution G A upstream_gene_variant MELA-AU 21 44847817 44847817 single base substitution G A upstream_gene_variant MELA-AU 21 44848413 44848413 single base substitution C T upstream_gene_variant MELA-AU 21 44848721 44848721 single base substitution C A upstream_gene_variant MELA-AU 21 44848968 44848968 single base substitution A G upstream_gene_variant MELA-AU 21 44849453 44849453 single base substitution C T upstream_gene_variant MELA-AU 21 44849487 44849487 single base substitution T C upstream_gene_variant MELA-AU 21 44849531 44849531 single base substitution C T upstream_gene_variant MELA-AU 21 44850096 44850096 single base substitution A G upstream_gene_variant MELA-AU 21 44850097 44850097 single base substitution G A upstream_gene_variant MELA-AU 21 44850176 44850176 single base substitution C T upstream_gene_variant MELA-AU 21 44850917 44850917 single base substitution C T upstream_gene_variant MELA-AU 21 44850921 44850921 single base substitution G A upstream_gene_variant MELA-AU 21 44851471 44851471 single base substitution C T upstream_gene_variant MELA-AU 21 44851532 44851532 single base substitution G A upstream_gene_variant MELA-AU 21 44851627 44851627 single base substitution G A upstream_gene_variant MELA-AU 21 44851806 44851806 single base substitution G A upstream_gene_variant MELA-AU 21 44851860 44851860 single base substitution G A upstream_gene_variant MELA-AU 21 44851899 44851899 single base substitution G A upstream_gene_variant ORCA-IN 21 44840279 44840279 single base substitution G T downstream_gene_variant ORCA-IN 21 44840279 44840279 single base substitution G T synonymous_variant I269I 807C>A ORCA-IN 21 44841593 44841593 single base substitution C T exon_variant ORCA-IN 21 44841593 44841593 single base substitution C T missense_variant D142N 424G>A ORCA-IN 21 44841672 44841672 single base substitution C A exon_variant ORCA-IN 21 44841672 44841672 single base substitution C A missense_variant L115F 345G>T OV-AU 21 44830096 44830096 single base substitution A G downstream_gene_variant OV-AU 21 44833923 44833923 single base substitution G A downstream_gene_variant OV-AU 21 44840139 44840139 single base substitution C T downstream_gene_variant OV-AU 21 44840139 44840139 single base substitution C T missense_variant G316D 947G>A OV-AU 21 44840210 44840210 single base substitution G C downstream_gene_variant OV-AU 21 44840210 44840210 single base substitution G C missense_variant F292L 876C>G OV-AU 21 44840949 44840949 single base substitution G A downstream_gene_variant OV-AU 21 44840949 44840949 single base substitution G A missense_variant P230L 689C>T OV-AU 21 44846727 44846727 single base substitution G A intron_variant OV-AU 21 44846727 44846727 single base substitution G A upstream_gene_variant OV-AU 21 44846728 44846728 single base substitution C A intron_variant OV-AU 21 44846728 44846728 single base substitution C A upstream_gene_variant OV-AU 21 44848885 44848885 single base substitution A C upstream_gene_variant OV-AU 21 44851720 44851720 single base substitution C T upstream_gene_variant PACA-AU 21 44831530 44831530 single base substitution G A downstream_gene_variant PACA-AU 21 44836218 44836218 single base substitution G A 3_prime_UTR_variant PACA-AU 21 44836218 44836218 single base substitution G A downstream_gene_variant PACA-AU 21 44838413 44838413 single base substitution C T downstream_gene_variant PACA-AU 21 44838413 44838413 single base substitution C T missense_variant V491I 1471G>A PACA-CA 21 44833898 44833898 deletion of <=200bp T - downstream_gene_variant PACA-CA 21 44834629 44834629 single base substitution A T 3_prime_UTR_variant PACA-CA 21 44838658 44838658 single base substitution G A downstream_gene_variant PACA-CA 21 44838658 44838658 single base substitution G A intron_variant PACA-CA 21 44839096 44839096 single base substitution C T downstream_gene_variant PACA-CA 21 44839096 44839096 single base substitution C T missense_variant A423T 1267G>A PACA-CA 21 44843058 44843058 single base substitution G C intron_variant PACA-CA 21 44843058 44843058 single base substitution G C upstream_gene_variant PACA-CA 21 44843423 44843423 single base substitution C T intron_variant PACA-CA 21 44843423 44843423 single base substitution C T upstream_gene_variant PACA-CA 21 44845383 44845386 deletion of <=200bp ATCA - frameshift_variant ID58 PACA-CA 21 44845383 44845386 deletion of <=200bp ATCA - upstream_gene_variant PACA-CA 21 44851946 44851946 single base substitution C A upstream_gene_variant PAEN-IT 21 44850686 44850686 single base substitution C G upstream_gene_variant PBCA-DE 21 44830782 44830782 single base substitution G A downstream_gene_variant PBCA-DE 21 44834499 44834499 single base substitution A G 3_prime_UTR_variant PBCA-DE 21 44835579 44835579 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 21 44836219 44836220 deletion of <=200bp CA - 3_prime_UTR_variant PBCA-DE 21 44836219 44836220 deletion of <=200bp CA - downstream_gene_variant PRAD-CA 21 44835588 44835588 single base substitution A C 3_prime_UTR_variant PRAD-UK 21 44840686 44840686 single base substitution G T downstream_gene_variant PRAD-UK 21 44840686 44840686 single base substitution G T intron_variant PRAD-UK 21 44847835 44847835 single base substitution C T upstream_gene_variant PRAD-UK 21 44850283 44850283 single base substitution C T upstream_gene_variant READ-US 21 44838331 44838331 single base substitution G A downstream_gene_variant READ-US 21 44838331 44838331 single base substitution G A missense_variant A518V 1553C>T READ-US 21 44841904 44841904 single base substitution T C missense_variant K96R 287A>G READ-US 21 44841904 44841904 single base substitution T C upstream_gene_variant RECA-EU 21 44835060 44835060 single base substitution C G 3_prime_UTR_variant RECA-EU 21 44836018 44836018 single base substitution G A 3_prime_UTR_variant RECA-EU 21 44836018 44836018 single base substitution G A downstream_gene_variant RECA-EU 21 44836032 44836032 single base substitution A G 3_prime_UTR_variant RECA-EU 21 44836032 44836032 single base substitution A G downstream_gene_variant SKCA-BR 21 44830361 44830361 single base substitution C T downstream_gene_variant SKCA-BR 21 44830762 44830762 single base substitution T C downstream_gene_variant SKCA-BR 21 44831126 44831126 single base substitution G A downstream_gene_variant SKCA-BR 21 44831429 44831429 single base substitution C T downstream_gene_variant SKCA-BR 21 44831430 44831430 single base substitution C T downstream_gene_variant SKCA-BR 21 44835850 44835850 single base substitution G A 3_prime_UTR_variant SKCA-BR 21 44837369 44837369 single base substitution G A downstream_gene_variant SKCA-BR 21 44837369 44837369 single base substitution G A intron_variant SKCA-BR 21 44839758 44839758 single base substitution G A downstream_gene_variant SKCA-BR 21 44839758 44839758 single base substitution G A missense_variant S367L 1100C>T SKCA-BR 21 44839842 44839842 single base substitution T G downstream_gene_variant SKCA-BR 21 44839842 44839842 single base substitution T G missense_variant Y339S 1016A>C SKCA-BR 21 44847086 44847086 single base substitution T C upstream_gene_variant SKCA-BR 21 44847355 44847355 single base substitution G C upstream_gene_variant SKCA-BR 21 44849186 44849186 single base substitution C T upstream_gene_variant SKCA-BR 21 44850067 44850067 single base substitution G C upstream_gene_variant SKCA-BR 21 44850109 44850109 single base substitution G A upstream_gene_variant SKCA-BR 21 44850814 44850814 single base substitution G A upstream_gene_variant SKCA-BR 21 44851932 44851932 single base substitution A C upstream_gene_variant SKCM-US 21 44836679 44836679 single base substitution G A downstream_gene_variant SKCM-US 21 44836679 44836679 single base substitution G A synonymous_variant D765D 2295C>T SKCM-US 21 44836750 44836750 single base substitution G A downstream_gene_variant SKCM-US 21 44836750 44836750 single base substitution G A missense_variant P742S 2224C>T SKCM-US 21 44836945 44836945 single base substitution G A downstream_gene_variant SKCM-US 21 44836945 44836945 single base substitution G A missense_variant P677S 2029C>T SKCM-US 21 44837464 44837464 single base substitution C T downstream_gene_variant SKCM-US 21 44837464 44837464 single base substitution C T synonymous_variant R645R 1935G>A SKCM-US 21 44837465 44837465 single base substitution C T downstream_gene_variant SKCM-US 21 44837465 44837465 single base substitution C T missense_variant R645Q 1934G>A SKCM-US 21 44837515 44837515 single base substitution G A downstream_gene_variant SKCM-US 21 44837515 44837515 single base substitution G A synonymous_variant F628F 1884C>T SKCM-US 21 44837539 44837539 single base substitution G A downstream_gene_variant SKCM-US 21 44837539 44837539 single base substitution G A synonymous_variant A620A 1860C>T SKCM-US 21 44837584 44837584 single base substitution G A downstream_gene_variant SKCM-US 21 44837584 44837584 single base substitution G A synonymous_variant I605I 1815C>T SKCM-US 21 44838314 44838314 single base substitution G A downstream_gene_variant SKCM-US 21 44838314 44838314 single base substitution G A missense_variant P524S 1570C>T SKCM-US 21 44838334 44838334 single base substitution G A downstream_gene_variant SKCM-US 21 44838334 44838334 single base substitution G A missense_variant P517L 1550C>T SKCM-US 21 44838407 44838407 single base substitution G A downstream_gene_variant SKCM-US 21 44838407 44838407 single base substitution G A missense_variant P493S 1477C>T SKCM-US 21 44839251 44839251 single base substitution G A downstream_gene_variant SKCM-US 21 44839251 44839251 single base substitution G A synonymous_variant L409L 1227C>T SKCM-US 21 44839834 44839834 single base substitution G A downstream_gene_variant SKCM-US 21 44839834 44839834 single base substitution G A missense_variant L342F 1024C>T SKCM-US 21 44840298 44840298 single base substitution G A downstream_gene_variant SKCM-US 21 44840298 44840298 single base substitution G A missense_variant P263L 788C>T SKCM-US 21 44840909 44840909 single base substitution G A downstream_gene_variant SKCM-US 21 44840909 44840909 single base substitution G A synonymous_variant I243I 729C>T SKCM-US 21 44840966 44840966 single base substitution G A downstream_gene_variant SKCM-US 21 44840966 44840966 single base substitution G A synonymous_variant F224F 672C>T SKCM-US 21 44841138 44841138 single base substitution G A exon_variant SKCM-US 21 44841138 44841138 single base substitution G A synonymous_variant P203P 609C>T SKCM-US 21 44841184 44841184 single base substitution G A exon_variant SKCM-US 21 44841184 44841184 single base substitution G A missense_variant P188L 563C>T SKCM-US 21 44841562 44841562 single base substitution G A exon_variant SKCM-US 21 44841562 44841562 single base substitution G A missense_variant T152I 455C>T SKCM-US 21 44841617 44841617 single base substitution G A exon_variant SKCM-US 21 44841617 44841617 single base substitution G A synonymous_variant L134L 400C>T STAD-US 21 44836942 44836942 deletion of <=200bp G - downstream_gene_variant STAD-US 21 44836942 44836942 deletion of <=200bp G - frameshift_variant Q678 STAD-US 21 44838242 44838242 single base substitution C T downstream_gene_variant STAD-US 21 44838242 44838242 single base substitution C T missense_variant A548T 1642G>A STAD-US 21 44840207 44840207 single base substitution G A downstream_gene_variant STAD-US 21 44840207 44840207 single base substitution G A synonymous_variant S293S 879C>T STAD-US 21 44841177 44841177 single base substitution G A exon_variant STAD-US 21 44841177 44841177 single base substitution G A synonymous_variant A190A 570C>T STAD-US 21 44841868 44841868 deletion of <=200bp T - exon_variant STAD-US 21 44841868 44841868 deletion of <=200bp T - frameshift_variant N108 THCA-SA 21 44834807 44834807 single base substitution G A 3_prime_UTR_variant THCA-SA 21 44846016 44846016 single base substitution C T missense_variant G15S 43G>A THCA-SA 21 44846016 44846016 single base substitution C T upstream_gene_variant THCA-US 21 44836663 44836663 single base substitution G A downstream_gene_variant THCA-US 21 44836663 44836663 single base substitution G A synonymous_variant L771L 2311C>T UCEC-US 21 44836669 44836669 single base substitution C T downstream_gene_variant UCEC-US 21 44836669 44836669 single base substitution C T missense_variant E769K 2305G>A UCEC-US 21 44836856 44836856 single base substitution G T downstream_gene_variant UCEC-US 21 44836856 44836856 single base substitution G T synonymous_variant L706L 2118C>A UCEC-US 21 44838264 44838264 single base substitution C T downstream_gene_variant UCEC-US 21 44838264 44838264 single base substitution C T synonymous_variant S540S 1620G>A UCEC-US 21 44838995 44838995 single base substitution C A downstream_gene_variant UCEC-US 21 44838995 44838995 single base substitution C A missense_variant E456D 1368G>T UCEC-US 21 44839786 44839786 single base substitution G C downstream_gene_variant UCEC-US 21 44839786 44839786 single base substitution G C missense_variant P358A 1072C>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand GC5_T COSM3748766 c.270C>T p.Y90Y Substitution - coding silent 21:43425410-43425410 - TCGA-GN-A263-01 COSM3551258 c.1024C>T p.L342F Substitution - Missense 21:43419954-43419954 - Au5 COSM5606053 c.301A>T p.I101F Substitution - Missense 21:43422010-43422010 - 2492708 COSM5718142 c.368A>C p.E123A Substitution - Missense 21:43421769-43421769 - CHC197T COSM3766658 c.1844C>T p.A615V Substitution - Missense 21:43417675-43417675 - UM-SCC-4 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - CHC892T COSM4794031 c.1621C>T p.P541S Substitution - Missense 21:43418383-43418383 - TCGA-CC-A7IJ-01 COSM4924525 c.93G>A p.R31R Substitution - coding silent 21:43426086-43426086 - 53M COSM5595316 c.668C>T p.P223L Substitution - Missense 21:43421090-43421090 - WSU-HN13 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - PD1391a COSM21274 c.204G>A p.L68L Substitution - coding silent 21:43425476-43425476 - CAL33 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - BICR_22 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - WSU-HN8 COSM4597298 c.1817A>G p.K606R Substitution - Missense 21:43417702-43417702 - HCT15 COSM4632857 c.1405G>T p.G469C Substitution - Missense 21:43419078-43419078 - PTC-28C COSM4134968 c.2053G>T p.V685L Substitution - Missense 21:43417041-43417041 - TCGA-EE-A3AF-06 COSM3551253 c.1815C>T p.I605I Substitution - coding silent 21:43417704-43417704 - TCGA-B6-A0IJ-01 COSM444550 c.1138delT p.S380fs*75 Deletion - Frameshift 21:43419460-43419460 - B81 COSM1745320 c.645delC p.Y215fs*1 Deletion - Frameshift 21:43421113-43421113 - LC_S29 COSM1190368 c.1070G>T p.G357V Substitution - Missense 21:43419908-43419908 - SCC-25 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - 260T COSM1726983 c.1172C>T p.P391L Substitution - Missense 21:43419426-43419426 - LUAD-CHTN-MAD06-00668 COSM359738 c.355G>T p.G119W Substitution - Missense 21:43421782-43421782 - UM-SCC-4 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - TCGA-22-5473-01 COSM725037 c.226C>G p.Q76E Substitution - Missense 21:43425454-43425454 - PD1489a COSM13363 c.631G>A p.G211S Substitution - Missense 21:43421127-43421127 - 06-P2007 COSM4582108 c.353A>G p.N118S Substitution - Missense 21:43421784-43421784 - TCGA-EE-A3AG-06 COSM3551257 c.1227C>T p.L409L Substitution - coding silent 21:43419371-43419371 - CAL33 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - B107 COSM1751673 c.811C>A p.Q271K Substitution - Missense 21:43420395-43420395 - 3N53-VS-3T53 COSM1414322 c.862G>A p.A288T Substitution - Missense 21:43420344-43420344 - BD236T COSM5519771 c.753_754delTG p.C251fs*1 Deletion - Frameshift 21:43420452-43420453 - TCGA-HF-7132-01 COSM4101860 c.1642G>A p.A548T Substitution - Missense 21:43418362-43418362 - AOCS-134-3-9 COSM4137264 c.876C>G p.F292L Substitution - Missense 21:43420330-43420330 - WSU-HN12 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - 2492710 COSM5718142 c.368A>C p.E123A Substitution - Missense 21:43421769-43421769 - YUKAT COSM5392988 c.1193A>G p.Q398R Substitution - Missense 21:43419405-43419405 - 296_T COSM3963997 c.367G>A p.E123K Substitution - Missense 21:43421770-43421770 - TCGA-GN-A267-06 COSM3551262 c.609C>T p.P203P Substitution - coding silent 21:43421258-43421258 - TCGA-G4-6628-01 COSM1414324 c.469C>T p.L157L Substitution - coding silent 21:43421668-43421668 - pfg016T COSM1641468 c.633C>T p.G211G Substitution - coding silent 21:43421125-43421125 - S02209 COSM5675316 c.1162T>G p.L388V Substitution - Missense 21:43419436-43419436 - LUAD-RT-S01774 COSM381511 c.702G>T p.Q234H Substitution - Missense 21:43421056-43421056 - Pat_76_A COSM5858715 c.1693C>T p.P565S Substitution - Missense 21:43418311-43418311 - NOKSI COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - PD1391a COSM21274 c.204G>A p.L68L Substitution - coding silent 21:43425476-43425476 - BHY COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - B101-Tumor COSM4004813 c.234G>A p.M78I Substitution - Missense 21:43425446-43425446 - TCGA-EW-A1IW-01 COSM1483980 c.1530C>T p.T510T Substitution - coding silent 21:43418474-43418474 - TCGA-EE-A2GT-06 COSM3551264 c.455C>T p.T152I Substitution - Missense 21:43421682-43421682 - AOCS-135-8-X COSM4137263 c.947G>A p.G316D Substitution - Missense 21:43420259-43420259 - TCGA-G4-6311-01 COSM3693808 c.1539G>A p.A513A Substitution - coding silent 21:43418465-43418465 - PD0898a COSM20730 c.723C>T p.F241F Substitution - coding silent 21:43421035-43421035 - TCGA-EE-A3AA-06 COSM3551255 c.1550C>T p.P517L Substitution - Missense 21:43418454-43418454 - T3351 COSM4726074 c.238C>A p.L80I Substitution - Missense 21:43425442-43425442 - TCGA-AD-6964-01 COSM1414322 c.862G>A p.A288T Substitution - Missense 21:43420344-43420344 - TCGA-G4-6321-01 COSM3758921 c.1848C>T p.P616P Substitution - coding silent 21:43417671-43417671 - WSU-HN13 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - TCGA-D3-A3MR-06 COSM3551265 c.400C>T p.L134L Substitution - coding silent 21:43421737-43421737 - B34-Tumor COSM1751671 c.1733C>T p.S578L Substitution - Missense 21:43418271-43418271 - UM-SCC-4 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - BCM501T COSM4951974 c.1061C>G p.A354G Substitution - Missense 21:43419917-43419917 - UM-SCC-47 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - SCC-25 COSM4597298 c.1817A>G p.K606R Substitution - Missense 21:43417702-43417702 - 3N58-VS-3T58 COSM4884699 c.807C>A p.I269I Substitution - coding silent 21:43420399-43420399 - 587338 COSM1225728 c.1409G>A p.R470Q Substitution - Missense 21:43419074-43419074 - TCGA-IH-A3EA-01 COSM3551260 c.729C>T p.I243I Substitution - coding silent 21:43421029-43421029 - TCGA-FS-A1Z3-06 COSM3551249 c.1935G>A p.R645R Substitution - coding silent 21:43417584-43417584 - 19 COSM5748223 c.1220G>C p.C407S Substitution - Missense 21:43419378-43419378 - TCGA-39-5029-01 COSM725038 c.1901G>A p.S634N Substitution - Missense 21:43417618-43417618 - YUKLAB COSM1714061 c.607C>A p.P203T Substitution - Missense 21:43421260-43421260 - TCGA-GN-A263-01 COSM3551256 c.1477C>T p.P493S Substitution - Missense 21:43418527-43418527 - tumor_4119279 COSM5946999 c.264G>C p.K88N Substitution - Missense 21:43425416-43425416 - SCC-9 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - ORL-48 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - 786-0 COSM1682022 c.1538C>T p.A513V Substitution - Missense 21:43418466-43418466 - TCGA-EE-A2MR-06 COSM3551263 c.563C>T p.P188L Substitution - Missense 21:43421304-43421304 - T3080 COSM4726071 c.563delC p.P188fs*45 Deletion - Frameshift 21:43421304-43421304 - TCGA-D1-A0ZU-01 COSM1031147 c.2305G>A p.E769K Substitution - Missense 21:43416789-43416789 - TCGA-AC-A23H-01 COSM3551261 c.672C>T p.F224F Substitution - coding silent 21:43421086-43421086 - CAL27 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - 587376 COSM1225731 c.197G>T p.S66I Substitution - Missense 21:43425483-43425483 - WSU-HN12 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - LC_C6 COSM1190369 c.28G>T p.D10Y Substitution - Missense 21:43426151-43426151 - S01578 COSM5670508 c.1770G>A p.L590L Substitution - coding silent 21:43417749-43417749 - TCGA-BC-A69H-01 COSM1414325 c.378G>A p.A126A Substitution - coding silent 21:43421759-43421759 - C008 COSM5523802 c.390C>T p.F130F Substitution - coding silent 21:43421747-43421747 - TCGA-04-1655-01 COSM1327384 c.2341C>G p.L781V Substitution - Missense 21:43416753-43416753 - PDA_023 COSM3758922 c.43G>A p.G15S Substitution - Missense 21:43426136-43426136 - OSCC-GB_01290111 COSM5955330 c.424G>A p.D142N Substitution - Missense 21:43421713-43421713 - WSU-HN6 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - Pat_41_B COSM5858716 c.1481C>T p.S494F Substitution - Missense 21:43418523-43418523 - CAL33 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - ESCC-116T COSM3939510 c.769C>T p.R257C Substitution - Missense 21:43420437-43420437 - YUSIM COSM5392989 c.1020C>T p.L340L Substitution - coding silent 21:43419958-43419958 - CP66-MEL COSM21074 c.1406G>A p.G469D Substitution - Missense 21:43419077-43419077 - NCI-H2126 COSM21234 c.2154_2176del23 p.S719fs*31 Deletion - Frameshift 21:43416918-43416940 - B85-2-Tumor COSM1751672 c.948C>T p.G316G Substitution - coding silent 21:43420258-43420258 - PD1391a COSM21274 c.204G>A p.L68L Substitution - coding silent 21:43425476-43425476 - TCGA-EE-A29L-06 COSM3551250 c.1934G>A p.R645Q Substitution - Missense 21:43417585-43417585 - TCGA-DA-A1HV-06 COSM3551254 c.1570C>T p.P524S Substitution - Missense 21:43418434-43418434 - Pat_16_B COSM5858714 c.2273C>T p.P758L Substitution - Missense 21:43416821-43416821 - 8061178 COSM3390016 c.1471G>A p.V491I Substitution - Missense 21:43418533-43418533 - 464 COSM4437027 c.595G>C p.E199Q Substitution - Missense 21:43421272-43421272 - K-562 COSM1682023 c.563C>G p.P188R Substitution - Missense 21:43421304-43421304 - UM-SCC-2 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - B107-Tumor COSM1751673 c.811C>A p.Q271K Substitution - Missense 21:43420395-43420395 - T578 COSM4726070 c.1086G>A p.P362P Substitution - coding silent 21:43419892-43419892 - AOCS-135-3-1 COSM4137263 c.947G>A p.G316D Substitution - Missense 21:43420259-43420259 - TCGA-AU-3779-01 COSM1414323 c.789C>T p.P263P Substitution - coding silent 21:43420417-43420417 - TCGA-AM-5821-01 COSM3758922 c.43G>A p.G15S Substitution - Missense 21:43426136-43426136 - T3262 COSM4726071 c.563delC p.P188fs*45 Deletion - Frameshift 21:43421304-43421304 - T2944 COSM4726069 c.1572G>A p.P524P Substitution - coding silent 21:43418432-43418432 - LUAD-LC15C COSM341878 c.1572G>T p.P524P Substitution - coding silent 21:43418432-43418432 - TCGA-CM-6172-01 COSM1414319 c.1178C>T p.P393L Substitution - Missense 21:43419420-43419420 - TCGA-GN-A266-06 COSM3551247 c.2295C>T p.D765D Substitution - coding silent 21:43416799-43416799 - CAL27 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - RK126_C01 COSM1632503 c.312A>G p.E104E Substitution - coding silent 21:43421999-43421999 - TCGA-CC-5259-01 COSM3551254 c.1570C>T p.P524S Substitution - Missense 21:43418434-43418434 - NCI-H2126 COSM21234 c.2154_2176del23 p.S719fs*31 Deletion - Frameshift 21:43416918-43416940 - TCGA-EE-A20C-06 COSM3551259 c.788C>T p.P263L Substitution - Missense 21:43420418-43420418 - BD124T COSM5494162 c.1647C>T p.T549T Substitution - coding silent 21:43418357-43418357 - 2492709 COSM5718142 c.368A>C p.E123A Substitution - Missense 21:43421769-43421769 - 587332 COSM1225729 c.1745G>A p.G582E Substitution - Missense 21:43417774-43417774 - PT49 COSM5936678 c.955C>T p.R319W Substitution - Missense 21:43420251-43420251 - UM-SCC-2 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - TCGA-G5-6641-01 COSM1566047 c.287A>G p.K96R Substitution - Missense 21:43422024-43422024 - PDA_015 COSM3766658 c.1844C>T p.A615V Substitution - Missense 21:43417675-43417675 - BCM501T COSM4951974 c.1061C>G p.A354G Substitution - Missense 21:43419917-43419917 - ZZUFHECRKL-G025T COSM5431001 c.233T>G p.M78R Substitution - Missense 21:43425447-43425447 - TCGA-AD-6965-01 COSM1414318 c.1295G>A p.R432Q Substitution - Missense 21:43419188-43419188 - CSCC-49-T COSM3551265 c.400C>T p.L134L Substitution - coding silent 21:43421737-43421737 - RK261_C02 COSM4779499 c.602A>G p.E201G Substitution - Missense 21:43421265-43421265 - PD0898a COSM20730 c.723C>T p.F241F Substitution - coding silent 21:43421035-43421035 - 93VU147T COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - CHC892T COSM4794031 c.1621C>T p.P541S Substitution - Missense 21:43418383-43418383 - ATL034 COSM5707564 c.379C>T p.R127W Substitution - Missense 21:43421758-43421758 - OSCC-GB_00660111 COSM4888793 c.345G>T p.L115F Substitution - Missense 21:43421792-43421792 - LP6007422-DNA_A01 COSM4409903 c.500-7C>T p.? Unknown 21:43421374-43421374 - YUZINO COSM1714062 c.536C>T p.P179L Substitution - Missense 21:43421331-43421331 - LUAD-D01603 COSM391493 c.64delC p.L22fs*20 Deletion - Frameshift 21:43426115-43426115 - TCGA-BS-A0TE-01 COSM1031153 c.1368G>T p.E456D Substitution - Missense 21:43419115-43419115 - UD-SCC-2 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - ME100L COSM231438 c.1828C>T p.R610C Substitution - Missense 21:43417691-43417691 - B102-Tumor COSM1751672 c.948C>T p.G316G Substitution - coding silent 21:43420258-43420258 - TCGA-A6-6781-01 COSM1414320 c.1088G>A p.R363Q Substitution - Missense 21:43419890-43419890 - NCI-H2126 COSM21234 c.2154_2176del23 p.S719fs*31 Deletion - Frameshift 21:43416918-43416940 - TCGA-B0-5084-01 COSM1495167 c.1595C>T p.A532V Substitution - Missense 21:43418409-43418409 - CAL27 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - CSCC-32-T COSM419213 c.1196C>T p.S399F Substitution - Missense 21:43419402-43419402 - UM-SCC-2 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - B85-2 COSM1751672 c.948C>T p.G316G Substitution - coding silent 21:43420258-43420258 - T3724 COSM4726072 c.530G>A p.G177E Substitution - Missense 21:43421337-43421337 - TCGA-GF-A3OT-06 COSM3551261 c.672C>T p.F224F Substitution - coding silent 21:43421086-43421086 - TCGA-DD-A119-01 COSM4919937 c.1510A>G p.S504G Substitution - Missense 21:43418494-43418494 - CP66-MEL COSM21074 c.1406G>A p.G469D Substitution - Missense 21:43419077-43419077 - TCGA-AZ-5407-01 COSM1414325 c.378G>A p.A126A Substitution - coding silent 21:43421759-43421759 - 234 COSM3731283 c.1003G>A p.A335T Substitution - Missense 21:43419975-43419975 - TCGA-A4-7583-01 COSM3991960 c.524A>G p.K175R Substitution - Missense 21:43421343-43421343 - KPOPBR-03-T COSM5955330 c.424G>A p.D142N Substitution - Missense 21:43421713-43421713 - YUPAT COSM1714060 c.685C>A p.L229M Substitution - Missense 21:43421073-43421073 - LS411 COSM4646656 c.1304C>T p.S435F Substitution - Missense 21:43419179-43419179 - TCGA-EK-A3GJ-01 COSM4852563 c.1035C>G p.L345L Substitution - coding silent 21:43419943-43419943 - PT46 COSM1751671 c.1733C>T p.S578L Substitution - Missense 21:43418271-43418271 - PD1489a COSM13363 c.631G>A p.G211S Substitution - Missense 21:43421127-43421127 - 587376 COSM1225730 c.202T>G p.L68V Substitution - Missense 21:43425478-43425478 - J83_T COSM2820169 c.1646C>T p.T549I Substitution - Missense 21:43418358-43418358 - TCGA-D1-A176-01 COSM1031149 c.2118C>A p.L706L Substitution - coding silent 21:43416976-43416976 - T3499 COSM4726073 c.419G>C p.C140S Substitution - Missense 21:43421718-43421718 - TCGA-06-0237-01 COSM2151050 c.462C>A p.N154K Substitution - Missense 21:43421675-43421675 - TCGA-EE-A2MJ-06 COSM3551251 c.1884C>T p.F628F Substitution - coding silent 21:43417635-43417635 - BD149T COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - OSCC-GB_01120111 COSM4884699 c.807C>A p.I269I Substitution - coding silent 21:43420399-43420399 - TCGA-BT-A20V-01 COSM419213 c.1196C>T p.S399F Substitution - Missense 21:43419402-43419402 - Pat_76_B COSM5858715 c.1693C>T p.P565S Substitution - Missense 21:43418311-43418311 - YUDIVI COSM5392987 c.1694C>T p.P565L Substitution - Missense 21:43418310-43418310 - TCGA-AA-3697-01 COSM3758921 c.1848C>T p.P616P Substitution - coding silent 21:43417671-43417671 - PD11367a COSM5772999 c.1235C>T p.S412L Substitution - Missense 21:43419363-43419363 - TCGA-36-2530-01 COSM1327383 c.2192A>T p.H731L Substitution - Missense 21:43416902-43416902 - PTC-7C COSM4134967 c.2087C>T p.P696L Substitution - Missense 21:43417007-43417007 - TCGA-BS-A0TE-01 COSM1031151 c.1620G>A p.S540S Substitution - coding silent 21:43418384-43418384 - UD-SCC-2 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - TCGA-CG-5721-01 COSM4101861 c.879C>T p.S293S Substitution - coding silent 21:43420327-43420327 - TCGA-D3-A5GO-06 COSM3551248 c.2224C>T p.P742S Substitution - Missense 21:43416870-43416870 - T2932 COSM4726068 c.1731C>G p.T577T Substitution - coding silent 21:43418273-43418273 - SCC-9 COSM4590121 c.1417A>C p.T473P Substitution - Missense 21:43419066-43419066 - TCGA-BG-A0M6-01 COSM1031155 c.1072C>G p.P358A Substitution - Missense 21:43419906-43419906 - CSCC-31-T COSM4474260 c.1908C>T p.G636G Substitution - coding silent 21:43417611-43417611 - Gp2D COSM4627906 c.1328C>T p.A443V Substitution - Missense 21:43419155-43419155 - TCGA-EE-A29D-06 COSM3551252 c.1860C>T p.A620A Substitution - coding silent 21:43417659-43417659 - TCGA-CZ-4858-01 COSM3363457 c.633C>A p.G211G Substitution - coding silent 21:43421125-43421125 - LUAD-TLLGS COSM347612 c.1126C>T p.Q376* Substitution - Nonsense 21:43419472-43419472 - WSU-HN30 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - B34 COSM1751671 c.1733C>T p.S578L Substitution - Missense 21:43418271-43418271 - NCI-H2126 COSM21234 c.2154_2176del23 p.S719fs*31 Deletion - Frameshift 21:43416918-43416940 - 2328683 COSM4972202 c.634G>A p.V212M Substitution - Missense 21:43421124-43421124 - SNU-175 COSM4650560 c.2175G>A p.A725A Substitution - coding silent 21:43416919-43416919 - AOCS-166-1-2 COSM4137265 c.689C>T p.P230L Substitution - Missense 21:43421069-43421069 - SCC-9 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - TCGA-UB-A7ME-01 COSM4910135 c.1956G>T p.E652D Substitution - Missense 21:43417563-43417563 - WA48 COSM238171 c.717C>T p.G239G Substitution - coding silent 21:43421041-43421041 - 93VU147T COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - G6 COSM1191933 c.1529C>T p.T510I Substitution - Missense 21:43418475-43418475 - H838 COSM1193088 c.1127A>G p.Q376R Substitution - Missense 21:43419471-43419471 - TCGA-F5-6702-01 COSM1566048 c.1553C>T p.A518V Substitution - Missense 21:43418451-43418451 - TCGA-06-0237 COSM2151050 c.462C>A p.N154K Substitution - Missense 21:43421675-43421675 - 93VU147T COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - Gp5D COSM4627906 c.1328C>T p.A443V Substitution - Missense 21:43419155-43419155 - HCC022T COSM5817574 c.2232G>A p.V744V Substitution - coding silent 21:43416862-43416862 - SCC-25 COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - NOKSI COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - UM-SCC-17B COSM4591685 c.1432T>C p.S478P Substitution - Missense 21:43419051-43419051 - WSU-HN8 COSM4590124 c.1435A>C p.T479P Substitution - Missense 21:43419048-43419048 - pfg129T COSM4747110 c.744_748+7delTCAAGGTGAGTC p.? Unknown 21:43421003-43421014 - sysucc-880T COSM5463031 c.2088G>A p.P696P Substitution - coding silent 21:43417006-43417006 - TCGA-EM-A1CU-01 COSM3371822 c.2311C>T p.L771L Substitution - coding silent 21:43416783-43416783 - LUAD-S01302 COSM395902 c.1870G>T p.G624C Substitution - Missense 21:43417649-43417649 - TCGA-B0-5698-01 COSM478628 c.909C>T p.D303D Substitution - coding silent 21:43420297-43420297 - WSU-HN12 COSM4597298 c.1817A>G p.K606R Substitution - Missense 21:43417702-43417702 - TCGA-D9-A6EC-06 COSM4403353 c.2029C>T p.P677S Substitution - Missense 21:43417065-43417065 - CSCC-35-T COSM4460938 c.1185C>T p.T395T Substitution - coding silent 21:43419413-43419413 - TCGA-BR-8683-01 COSM4101862 c.570C>T p.A190A Substitution - coding silent 21:43421297-43421297 - CSCC-17-T COSM4488250 c.32C>T p.P11L Substitution - Missense 21:43426147-43426147 - Pat_41_B COSM5858717 c.273+1G>A p.? Unknown 21:43425406-43425406 - CSCC-20-T COSM4462694 c.1257C>T p.F419F Substitution - coding silent 21:43419226-43419226 - SJHGG093_A COSM4971677 c.114C>A p.F38L Substitution - Missense 21:43426065-43426065 - CHC197T COSM3758921 c.1848C>T p.P616P Substitution - coding silent 21:43417671-43417671 - S0031 COSM5883643 c.1363G>C p.E455Q Substitution - Missense 21:43419120-43419120 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.282107;Hs.282113 21q22.3 605705 628234|dbSNP|BC038504|A/G|non-coding||2893|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.S380Pfs*75 c.1138delT 21 44839340 BRCA C A Missense p.E456D c.1368G>T 21 44838995 UCEC C A Missense p.G544W c.1630G>T 21 44838254 LUAD C - IntronicDeletion . c.156+11delG 21 44845892 ESCA C T Missense p.E769K c.2305G>A 21 44836669 UCEC C T Missense p.R645Q c.1934G>A 21 44837465 CM C T Missense p.S634N c.1901G>A 21 44837498 LUSC C T Synonymous p.R645R c.1935G>A 21 44837464 CM C T Synonymous p.S412S c.1236G>A 21 44839242 BRCA C T Synonymous p.S540S c.1620G>A 21 44838264 UCEC G A IntronicSNV . c.338-69C>T 21 44841748 CM G A Missense p.L342F c.1024C>T 21 44839834 CM G A Missense p.P263L c.788C>T 21 44840298 CM G A Missense p.P493S c.1477C>T 21 44838407 CM G A Missense p.P517L c.1550C>T 21 44838334 CM G A Missense p.P524S c.1570C>T 21 44838314 CM G A Missense p.S399F c.1196C>T 21 44839282 BLCA G A Missense p.T152I c.455C>T 21 44841562 CM G A Synonymous p.A676A c.2028C>T 21 44836946 CM G A Synonymous p.D303D c.909C>T 21 44840177 RCCC G A Synonymous p.F246F c.738C>T 21 44840900 CM G A Synonymous p.F628F c.1884C>T 21 44837515 CM G A Synonymous p.G211G c.633C>T 21 44841005 STAD G A Synonymous p.G639G c.1917C>T 21 44837482 HNSC G A Synonymous p.I243I c.729C>T 21 44840909 CM G A Synonymous p.I605I c.1815C>T 21 44837584 CM G A Synonymous p.L134L c.400C>T 21 44841617 CM G A Synonymous p.L409L c.1227C>T 21 44839251 CM G A Synonymous p.L771L c.2311C>T 21 44836663 THCA G A Synonymous p.P203P c.609C>T 21 44841138 CM G A Synonymous p.T510T c.1530C>T 21 44838354 BRCA G C Missense p.Q76E c.226C>G 21 44845334 LUSC G - Frameshift p.Q678Sfs*8 c.2032delC 21 44836942 STAD - G Frameshift p.Y189Vfs*8 c.563dupC 21 44841184 LUAD GG AA Missense p.P692S c.2073_2074delinsTT 21 44836900 CM G T Missense p.N154K c.462C>A 21 44841555 GBM G T Missense p.Q132K c.394C>A 21 44841623 HNSC G T Synonymous p.G211G c.633C>A 21 44841005 RCCC G T Synonymous p.L706L c.2118C>A 21 44836856 UCEC G T Synonymous p.T32T c.96C>A 21 44845963 LUAD T A Missense p.Q450L c.1349A>T 21 44839014 HNSC T C Synonymous p.E104E c.312A>G 21 44841879 HC