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 22 21799659 21799659 + Frame_Shift_Del DEL C C - TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr22:21799659delC c.475delC c.(475-477)cccfs p.P160fs ACC 22 21800327 21800327 + Silent SNP G G A TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr22:21800327G>A c.1143G>A c.(1141-1143)ggG>ggA p.G381G BLCA 22 21799328 21799328 + Silent SNP C C A TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr22:21799328C>A c.144C>A c.(142-144)gtC>gtA p.V48V BLCA 22 21799508 21799508 + Silent SNP C C T TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr22:21799508C>T c.324C>T c.(322-324)agC>agT p.S108S BLCA 22 21799914 21799914 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr22:21799914G>C c.730G>C c.(730-732)Gag>Cag p.E244Q BLCA 22 21800133 21800133 + Missense_Mutation SNP A A G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr22:21800133A>G c.949A>G c.(949-951)Agc>Ggc p.S317G BLCA 22 21800568 21800568 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr22:21800568G>A c.1384G>A c.(1384-1386)Gag>Aag p.E462K BLCA 22 21800937 21800937 + Missense_Mutation SNP G G T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr22:21800937G>T c.1753G>T c.(1753-1755)Ggc>Tgc p.G585C BRCA 22 21800890 21800890 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr22:21800890G>A c.1706G>A c.(1705-1707)cGc>cAc p.R569H BRCA 22 21800989 21800989 + Missense_Mutation SNP G G C TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 g.chr22:21800989G>C c.1805G>C c.(1804-1806)cGc>cCc p.R602P CESC 22 21799586 21799586 + Silent SNP C C A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr22:21799586C>A c.402C>A c.(400-402)ctC>ctA p.L134L COAD 22 21799658 21799659 + Frame_Shift_Ins INS - - C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr22:21799658_21799659insC c.474_475insC c.(475-477)cccfs p.P159fs COAD 22 21799858 21799858 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr22:21799858C>T c.674C>T c.(673-675)gCg>gTg p.A225V COAD 22 21799865 21799865 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:21799865delG c.681delG c.(679-681)ctgfs p.L227fs COAD 22 21799953 21799953 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:21799953delC c.769delC c.(769-771)cccfs p.P258fs COAD 22 21799992 21799992 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:21799992G>A c.808G>A c.(808-810)Gca>Aca p.A270T COAD 22 21800078 21800078 + Silent SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr22:21800078G>A c.894G>A c.(892-894)ctG>ctA p.L298L COAD 22 21800480 21800480 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:21800480C>T c.1296C>T c.(1294-1296)taC>taT p.Y432Y COAD 22 21800492 21800492 + Silent SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr22:21800492C>A c.1308C>A c.(1306-1308)tcC>tcA p.S436S COAD 22 21800926 21800926 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr22:21800926G>A c.1742G>A c.(1741-1743)cGt>cAt p.R581H COADREAD 22 21799658 21799659 + Frame_Shift_Ins INS - - C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr22:21799658_21799659insC c.474_475insC c.(475-477)cccfs p.P159fs COADREAD 22 21799858 21799858 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr22:21799858C>T c.674C>T c.(673-675)gCg>gTg p.A225V COADREAD 22 21799865 21799865 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:21799865delG c.681delG c.(679-681)ctgfs p.L227fs COADREAD 22 21799953 21799953 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:21799953delC c.769delC c.(769-771)cccfs p.P258fs COADREAD 22 21799992 21799992 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:21799992G>A c.808G>A c.(808-810)Gca>Aca p.A270T COADREAD 22 21800078 21800078 + Silent SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr22:21800078G>A c.894G>A c.(892-894)ctG>ctA p.L298L COADREAD 22 21800480 21800480 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:21800480C>T c.1296C>T c.(1294-1296)taC>taT p.Y432Y COADREAD 22 21800492 21800492 + Silent SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr22:21800492C>A c.1308C>A c.(1306-1308)tcC>tcA p.S436S COADREAD 22 21800926 21800926 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr22:21800926G>A c.1742G>A c.(1741-1743)cGt>cAt p.R581H ESCA 22 21799838 21799839 + Frame_Shift_Ins INS - - T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr22:21799838_21799839insT c.654_655insT c.(655-657)tgcfs p.C219fs ESCA 22 21799864 21799865 + Frame_Shift_Ins INS - - G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr22:21799864_21799865insG c.680_681insG c.(679-684)ctggggfs p.LG227fs ESCA 22 21800741 21800741 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr22:21800741G>T c.1557G>T c.(1555-1557)acG>acT p.T519T GBMLGG 22 21799992 21799992 + Missense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 g.chr22:21799992G>A c.808G>A c.(808-810)Gca>Aca p.A270T GBMLGG 22 21800304 21800304 + Frame_Shift_Del DEL C C - TCGA-E1-A7YI-01A-11D-A34A-08 TCGA-E1-A7YI-10A-01D-A34A-08 g.chr22:21800304delC c.1120delC c.(1120-1122)cccfs p.P374fs HNSC 22 21799304 21799304 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr22:21799304G>A c.120G>A c.(118-120)agG>agA p.R40R HNSC 22 21799710 21799710 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr22:21799710C>T c.526C>T c.(526-528)Cag>Tag p.Q176* HNSC 22 21799757 21799757 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr22:21799757C>T c.573C>T c.(571-573)ctC>ctT p.L191L HNSC 22 21799898 21799898 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 g.chr22:21799898C>T c.714C>T c.(712-714)agC>agT p.S238S HNSC 22 21800083 21800083 + Missense_Mutation SNP G G T TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr22:21800083G>T c.899G>T c.(898-900)gGc>gTc p.G300V HNSC 22 21800507 21800507 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr22:21800507G>C c.1323G>C c.(1321-1323)ttG>ttC p.L441F HNSC 22 21800952 21800952 + Missense_Mutation SNP G G A TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr22:21800952G>A c.1768G>A c.(1768-1770)Gag>Aag p.E590K KICH 22 21800335 21800335 + Missense_Mutation SNP C C G TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr22:21800335C>G c.1151C>G c.(1150-1152)cCt>cGt p.P384R KIPAN 22 21799452 21799458 + Frame_Shift_Del DEL TCCACAG TCCACAG - TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr22:21799452_21799458delTCCACAG c.268_274delTCCACAG c.(268-276)tccacagtgfs p.STV90fs KIPAN 22 21800335 21800335 + Missense_Mutation SNP C C G TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr22:21800335C>G c.1151C>G c.(1150-1152)cCt>cGt p.P384R KIPAN 22 21800836 21800836 + Missense_Mutation SNP A A G TCGA-BP-4174-01A-02D-1366-10 TCGA-BP-4174-11A-01D-1366-10 g.chr22:21800836A>G c.1652A>G c.(1651-1653)cAc>cGc p.H551R KIRC 22 21800836 21800836 + Missense_Mutation SNP A A G TCGA-BP-4174-01A-02D-1366-10 TCGA-BP-4174-11A-01D-1366-10 g.chr22:21800836A>G c.1652A>G c.(1651-1653)cAc>cGc p.H551R KIRP 22 21799452 21799458 + Frame_Shift_Del DEL TCCACAG TCCACAG - TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr22:21799452_21799458delTCCACAG c.268_274delTCCACAG c.(268-276)tccacagtgfs p.STV90fs LGG 22 21799992 21799992 + Missense_Mutation SNP G G A TCGA-DU-8163-01A-11D-2253-08 TCGA-DU-8163-10A-01D-2253-08 g.chr22:21799992G>A c.808G>A c.(808-810)Gca>Aca p.A270T LGG 22 21800304 21800304 + Frame_Shift_Del DEL C C - TCGA-E1-A7YI-01A-11D-A34A-08 TCGA-E1-A7YI-10A-01D-A34A-08 g.chr22:21800304delC c.1120delC c.(1120-1122)cccfs p.P374fs LUAD 22 21800462 21800462 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr22:21800462G>A c.1278G>A c.(1276-1278)atG>atA p.M426I LUAD 22 21800489 21800489 + Silent SNP G G T TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr22:21800489G>T c.1305G>T c.(1303-1305)gtG>gtT p.V435V LUAD 22 21800810 21800810 + Silent SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr22:21800810C>T c.1626C>T c.(1624-1626)ttC>ttT p.F542F LUAD 22 21800926 21800926 + Missense_Mutation SNP G G A TCGA-86-8280-01A-11D-2284-08 TCGA-86-8280-10A-01D-2284-08 g.chr22:21800926G>A c.1742G>A c.(1741-1743)cGt>cAt p.R581H LUSC 22 21799210 21799210 + Splice_Site SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr22:21799210G>A c.e2-1 LUSC 22 21799774 21799774 + Missense_Mutation SNP C C T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr22:21799774C>T c.590C>T c.(589-591)tCa>tTa p.S197L LUSC 22 21800555 21800555 + Silent SNP C C T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr22:21800555C>T c.1371C>T c.(1369-1371)ctC>ctT p.L457L LUSC 22 21800819 21800819 + Silent SNP C C T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr22:21800819C>T c.1635C>T c.(1633-1635)cgC>cgT p.R545R PAAD 22 21800714 21800714 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:21800714C>T c.1530C>T c.(1528-1530)tgC>tgT p.C510C PAAD 22 21800868 21800868 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:21800868G>A c.1684G>A c.(1684-1686)Gcc>Acc p.A562T PCPG 22 21800664 21800664 + Missense_Mutation SNP C C T TCGA-QR-A707-01A-11D-A35D-08 TCGA-QR-A707-10A-01D-A35B-08 g.chr22:21800664C>T c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S PRAD 22 21800526 21800526 + Missense_Mutation SNP G G A TCGA-KK-A7AW-01A-11D-A32B-08 TCGA-KK-A7AW-11A-11D-A329-08 g.chr22:21800526G>A c.1342G>A c.(1342-1344)Gcc>Acc p.A448T PRAD 22 21800707 21800707 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 g.chr22:21800707C>T c.1523C>T c.(1522-1524)tCg>tTg p.S508L PRAD 22 21800813 21800813 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:21800813G>A c.1629G>A c.(1627-1629)acG>acA p.T543T SKCM 22 21799328 21799328 + Silent SNP C C T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr22:21799328C>T c.144C>T c.(142-144)gtC>gtT p.V48V SKCM 22 21799618 21799618 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr22:21799618C>T c.434C>T c.(433-435)cCc>cTc p.P145L SKCM 22 21800043 21800043 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr22:21800043C>T c.859C>T c.(859-861)Cct>Tct p.P287S SKCM 22 21800468 21800468 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr22:21800468G>A c.1284G>A c.(1282-1284)cgG>cgA p.R428R SKCM 22 21800537 21800537 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:21800537C>T c.1353C>T c.(1351-1353)ttC>ttT p.F451F SKCM 22 21800594 21800594 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr22:21800594C>T c.1410C>T c.(1408-1410)ttC>ttT p.F470F SKCM 22 21800647 21800647 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:21800647C>T c.1463C>T c.(1462-1464)gCc>gTc p.A488V SKCM 22 21800779 21800779 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr22:21800779C>T c.1595C>T c.(1594-1596)cCc>cTc p.P532L SKCM 22 21800780 21800780 + Silent SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr22:21800780C>T c.1596C>T c.(1594-1596)ccC>ccT p.P532P SKCM 22 21800874 21800874 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr22:21800874G>A c.1690G>A c.(1690-1692)Gat>Aat p.D564N SKCM 22 21800898 21800898 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:21800898C>T c.1714C>T c.(1714-1716)Cgt>Tgt p.R572C SKCM 22 21800912 21800912 + Silent SNP C C G TCGA-EB-A5KH-06A-11D-A27K-08 TCGA-EB-A5KH-10A-01D-A27N-08 g.chr22:21800912C>G c.1728C>G c.(1726-1728)ctC>ctG p.L576L SKCM 22 21800996 21800996 + Silent SNP C C A TCGA-EB-A5KH-06A-11D-A27K-08 TCGA-EB-A5KH-10A-01D-A27N-08 g.chr22:21800996C>A c.1812C>A c.(1810-1812)ctC>ctA p.L604L SKCM 22 21801022 21801022 + Missense_Mutation SNP C C A TCGA-EB-A5KH-06A-11D-A27K-08 TCGA-EB-A5KH-10A-01D-A27N-08 g.chr22:21801022C>A c.1838C>A c.(1837-1839)tCc>tAc p.S613Y

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 22 21799486 21799486 single base substitution A T missense_variant Y101F 302A>T BLCA-US 22 21800133 21800133 single base substitution A G missense_variant S317G 949A>G BRCA-EU 22 21779744 21779744 single base substitution A G intron_variant BRCA-EU 22 21779903 21779903 single base substitution G C intron_variant BRCA-EU 22 21786702 21786702 single base substitution C T intron_variant BRCA-EU 22 21792907 21792907 single base substitution C G intron_variant BRCA-EU 22 21792907 21792907 single base substitution C G upstream_gene_variant BRCA-EU 22 21798896 21798896 single base substitution G A intron_variant BRCA-EU 22 21800129 21800129 single base substitution C T synonymous_variant H315H 945C>T BRCA-EU 22 21804418 21804418 single base substitution T G 3_prime_UTR_variant BRCA-EU 22 21804418 21804418 single base substitution T G downstream_gene_variant BRCA-EU 22 21805063 21805063 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 21805063 21805063 single base substitution G A downstream_gene_variant BRCA-EU 22 21805075 21805075 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 21805075 21805075 single base substitution C T downstream_gene_variant BRCA-EU 22 21806201 21806201 single base substitution C A downstream_gene_variant BRCA-EU 22 21807501 21807501 single base substitution C T downstream_gene_variant BRCA-EU 22 21807844 21807844 single base substitution C G downstream_gene_variant BRCA-EU 22 21807865 21807865 single base substitution T C downstream_gene_variant BRCA-EU 22 21807996 21807996 single base substitution C G downstream_gene_variant BRCA-EU 22 21808957 21808957 single base substitution G A downstream_gene_variant BRCA-EU 22 21809748 21809748 single base substitution C A downstream_gene_variant BRCA-EU 22 21810157 21810157 single base substitution T C downstream_gene_variant BRCA-FR 22 21767518 21767518 single base substitution G C upstream_gene_variant BRCA-FR 22 21802644 21802644 single base substitution A G 3_prime_UTR_variant BRCA-FR 22 21805075 21805075 single base substitution C T 3_prime_UTR_variant BRCA-FR 22 21805075 21805075 single base substitution C T downstream_gene_variant BRCA-FR 22 21810157 21810157 single base substitution T C downstream_gene_variant BRCA-UK 22 21807844 21807844 single base substitution C G downstream_gene_variant BRCA-US 22 21800890 21800890 single base substitution G A missense_variant R569H 1706G>A BRCA-US 22 21800989 21800989 single base substitution G C missense_variant R602P 1805G>C CESC-US 22 21799586 21799586 single base substitution C A synonymous_variant L134L 402C>A COAD-US 22 21799231 21799231 single base substitution G A missense_variant R16H 47G>A COAD-US 22 21799658 21799658 insertion of <=200bp - C frameshift_variant R158R? COAD-US 22 21799858 21799858 single base substitution C T missense_variant A225V 674C>T COAD-US 22 21799865 21799865 deletion of <=200bp G - frameshift_variant L227 COAD-US 22 21799953 21799953 deletion of <=200bp C - frameshift_variant P257 COAD-US 22 21799992 21799992 single base substitution G A missense_variant A270T 808G>A COAD-US 22 21800078 21800078 single base substitution G A synonymous_variant L298L 894G>A COAD-US 22 21800269 21800269 single base substitution C T missense_variant P362L 1085C>T COAD-US 22 21800480 21800480 single base substitution C T synonymous_variant Y432Y 1296C>T COCA-CN 22 21792691 21792691 single base substitution C T intron_variant COCA-CN 22 21792691 21792691 single base substitution C T upstream_gene_variant COCA-CN 22 21797094 21797094 single base substitution C G 5_prime_UTR_variant COCA-CN 22 21797102 21797102 single base substitution G C 5_prime_UTR_variant COCA-CN 22 21799718 21799718 single base substitution C T synonymous_variant L178L 534C>T COCA-CN 22 21800525 21800525 single base substitution C T synonymous_variant C447C 1341C>T COCA-CN 22 21800817 21800817 single base substitution C T missense_variant R545C 1633C>T COCA-CN 22 21800889 21800889 single base substitution C T missense_variant R569C 1705C>T ESAD-UK 22 21798262 21798262 single base substitution A T intron_variant ESAD-UK 22 21798382 21798382 single base substitution G A intron_variant ESAD-UK 22 21798522 21798522 single base substitution C T intron_variant ESAD-UK 22 21799900 21799900 single base substitution G A missense_variant G239E 716G>A ESAD-UK 22 21803221 21803221 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 21803238 21803238 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 21804046 21804046 single base substitution C G 3_prime_UTR_variant ESAD-UK 22 21804046 21804046 single base substitution C G downstream_gene_variant ESAD-UK 22 21808987 21808987 single base substitution A C downstream_gene_variant ESCA-CN 22 21800228 21800228 single base substitution C A synonymous_variant S348S 1044C>A KIRC-US 22 21800836 21800836 single base substitution A G missense_variant H551R 1652A>G LAML-KR 22 21778919 21778919 single base substitution G A intron_variant LAML-KR 22 21779990 21779990 single base substitution T C intron_variant LAML-KR 22 21780074 21780074 single base substitution C G intron_variant LICA-CN 22 21799859 21799859 single base substitution G T synonymous_variant A225A 675G>T LICA-FR 22 21792691 21792691 single base substitution C T intron_variant LICA-FR 22 21792691 21792691 single base substitution C T upstream_gene_variant LICA-FR 22 21799539 21799539 single base substitution C G missense_variant L119V 355C>G LICA-FR 22 21799714 21799714 single base substitution G T missense_variant G177V 530G>T LICA-FR 22 21800202 21800202 single base substitution G T missense_variant G340C 1018G>T LICA-FR 22 21800522 21800522 single base substitution C A synonymous_variant P446P 1338C>A LIHC-US 22 21800865 21800865 single base substitution T C missense_variant F561L 1681T>C LINC-JP 22 21800723 21800747 deletion of <=200bp CTACAAGGACCCAGCCACGCTGCGG - frameshift_variant TYKDPATLR513 LIRI-JP 22 21803436 21803436 single base substitution A G 3_prime_UTR_variant LIRI-JP 22 21805613 21805613 single base substitution T C 3_prime_UTR_variant LIRI-JP 22 21805613 21805613 single base substitution T C downstream_gene_variant LIRI-JP 22 21806356 21806356 single base substitution G A downstream_gene_variant LIRI-JP 22 21808275 21808275 single base substitution G A downstream_gene_variant LUSC-KR 22 21766890 21766890 single base substitution G T upstream_gene_variant LUSC-KR 22 21771569 21771569 single base substitution T C upstream_gene_variant LUSC-KR 22 21773453 21773453 single base substitution G C intron_variant LUSC-KR 22 21773453 21773453 single base substitution G C upstream_gene_variant LUSC-KR 22 21773726 21773726 single base substitution G A intron_variant LUSC-KR 22 21773726 21773726 single base substitution G A upstream_gene_variant LUSC-KR 22 21780327 21780327 single base substitution G C intron_variant LUSC-KR 22 21795576 21795576 single base substitution C T intron_variant LUSC-KR 22 21795576 21795576 single base substitution C T upstream_gene_variant LUSC-KR 22 21799160 21799160 single base substitution G T intron_variant LUSC-KR 22 21802961 21802961 single base substitution T G 3_prime_UTR_variant LUSC-KR 22 21802979 21802979 single base substitution G A 3_prime_UTR_variant LUSC-KR 22 21805076 21805076 single base substitution G T 3_prime_UTR_variant LUSC-KR 22 21805076 21805076 single base substitution G T downstream_gene_variant LUSC-KR 22 21807263 21807263 single base substitution T G downstream_gene_variant LUSC-KR 22 21809731 21809731 single base substitution G A downstream_gene_variant LUSC-US 22 21799210 21799210 single base substitution G A splice_acceptor_variant LUSC-US 22 21799774 21799774 single base substitution C T missense_variant S197L 590C>T LUSC-US 22 21800555 21800555 single base substitution C T synonymous_variant L457L 1371C>T LUSC-US 22 21800819 21800819 single base substitution C T synonymous_variant R545R 1635C>T MALY-DE 22 21802071 21802072 deletion of <=200bp GT - 3_prime_UTR_variant MALY-DE 22 21803501 21803501 single base substitution C G 3_prime_UTR_variant MALY-DE 22 21803805 21803805 insertion of <=200bp - A 3_prime_UTR_variant MALY-DE 22 21803805 21803805 insertion of <=200bp - A downstream_gene_variant MELA-AU 22 21768763 21768763 single base substitution G A upstream_gene_variant MELA-AU 22 21771570 21771570 single base substitution C T upstream_gene_variant MELA-AU 22 21771600 21771600 single base substitution C T upstream_gene_variant MELA-AU 22 21797031 21797031 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 22 21797031 21797031 single base substitution C T intron_variant MELA-AU 22 21797944 21797944 single base substitution C T intron_variant MELA-AU 22 21798163 21798163 single base substitution C T intron_variant MELA-AU 22 21798198 21798198 single base substitution C T intron_variant MELA-AU 22 21798205 21798205 single base substitution C T intron_variant MELA-AU 22 21798380 21798380 single base substitution C T intron_variant MELA-AU 22 21798595 21798595 single base substitution G A intron_variant MELA-AU 22 21798811 21798811 single base substitution C T intron_variant MELA-AU 22 21798995 21798995 single base substitution C T intron_variant MELA-AU 22 21799863 21799863 single base substitution C T synonymous_variant L227L 679C>T MELA-AU 22 21800172 21800172 single base substitution C T missense_variant L330F 988C>T MELA-AU 22 21800647 21800648 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A488V 1463CC>TT MELA-AU 22 21800940 21800940 single base substitution G A missense_variant E586K 1756G>A MELA-AU 22 21801071 21801071 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21801152 21801152 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21801274 21801274 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21801362 21801362 single base substitution G A 3_prime_UTR_variant MELA-AU 22 21801509 21801509 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21801827 21801827 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21802342 21802342 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21802764 21802764 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21802913 21802913 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21803315 21803315 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21803892 21803892 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21803892 21803892 single base substitution C T downstream_gene_variant MELA-AU 22 21803898 21803898 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21803898 21803898 single base substitution C T downstream_gene_variant MELA-AU 22 21804204 21804204 single base substitution G A 3_prime_UTR_variant MELA-AU 22 21804204 21804204 single base substitution G A downstream_gene_variant MELA-AU 22 21804672 21804672 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21804672 21804672 single base substitution C T downstream_gene_variant MELA-AU 22 21804764 21804764 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21804764 21804764 single base substitution C T downstream_gene_variant MELA-AU 22 21804908 21804908 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21804908 21804908 single base substitution C T downstream_gene_variant MELA-AU 22 21804981 21804981 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21804981 21804981 single base substitution C T downstream_gene_variant MELA-AU 22 21805463 21805464 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 22 21805463 21805464 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 21805521 21805521 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21805521 21805521 single base substitution C T downstream_gene_variant MELA-AU 22 21805938 21805938 single base substitution G A downstream_gene_variant MELA-AU 22 21806053 21806054 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 21806312 21806312 single base substitution G A downstream_gene_variant MELA-AU 22 21807520 21807520 single base substitution G A downstream_gene_variant MELA-AU 22 21807904 21807904 single base substitution C T downstream_gene_variant MELA-AU 22 21808031 21808031 single base substitution C T downstream_gene_variant MELA-AU 22 21808176 21808176 single base substitution C T downstream_gene_variant MELA-AU 22 21808616 21808616 single base substitution C T downstream_gene_variant MELA-AU 22 21808925 21808925 single base substitution C T downstream_gene_variant MELA-AU 22 21809074 21809074 single base substitution C T downstream_gene_variant MELA-AU 22 21809317 21809317 single base substitution G T downstream_gene_variant MELA-AU 22 21810394 21810394 single base substitution C T downstream_gene_variant MELA-AU 22 21810665 21810665 single base substitution C T downstream_gene_variant ORCA-IN 22 21797476 21797476 single base substitution C T intron_variant ORCA-IN 22 21800759 21800759 single base substitution G T missense_variant K525N 1575G>T ORCA-IN 22 21809406 21809406 single base substitution G A downstream_gene_variant OV-AU 22 21803906 21803906 single base substitution G C 3_prime_UTR_variant OV-AU 22 21803906 21803906 single base substitution G C downstream_gene_variant PACA-AU 22 21786343 21786343 single base substitution C T intron_variant PACA-AU 22 21797074 21797074 single base substitution G A 5_prime_UTR_variant PACA-AU 22 21797328 21797328 single base substitution G C intron_variant PACA-AU 22 21797365 21797365 single base substitution G A intron_variant PACA-AU 22 21797403 21797403 single base substitution G A intron_variant PACA-AU 22 21797507 21797507 single base substitution G C intron_variant PACA-AU 22 21797689 21797689 single base substitution G C intron_variant PACA-AU 22 21797722 21797722 single base substitution G A intron_variant PACA-AU 22 21798517 21798517 single base substitution G C intron_variant PACA-AU 22 21798581 21798581 single base substitution G A intron_variant PACA-AU 22 21798711 21798711 single base substitution G C intron_variant PACA-AU 22 21798760 21798760 single base substitution G A intron_variant PACA-AU 22 21798881 21798881 single base substitution G A intron_variant PACA-AU 22 21798883 21798883 single base substitution G A intron_variant PACA-AU 22 21799416 21799416 single base substitution G T missense_variant D78Y 232G>T PACA-AU 22 21800091 21800091 single base substitution G T missense_variant D303Y 907G>T PACA-AU 22 21800292 21800292 single base substitution G A missense_variant G370R 1108G>A PACA-AU 22 21808427 21808427 single base substitution A C downstream_gene_variant PACA-CA 22 21767775 21767775 single base substitution G T upstream_gene_variant PACA-CA 22 21797662 21797662 single base substitution G T intron_variant PACA-CA 22 21799437 21799437 single base substitution A G missense_variant T85A 253A>G PACA-CA 22 21799953 21799953 single base substitution C T missense_variant P257S 769C>T PACA-CA 22 21799954 21799954 single base substitution C T missense_variant P257L 770C>T PACA-CA 22 21800368 21800368 single base substitution G A missense_variant C395Y 1184G>A PACA-CA 22 21800519 21800519 single base substitution T C synonymous_variant I445I 1335T>C PACA-CA 22 21801018 21801018 single base substitution A G missense_variant T612A 1834A>G PAEN-AU 22 21802510 21802510 single base substitution T G 3_prime_UTR_variant PAEN-IT 22 21805077 21805077 single base substitution G A 3_prime_UTR_variant PAEN-IT 22 21805077 21805077 single base substitution G A downstream_gene_variant PBCA-DE 22 21810254 21810254 single base substitution G T downstream_gene_variant SKCA-BR 22 21766764 21766764 single base substitution T A upstream_gene_variant SKCA-BR 22 21767324 21767324 single base substitution G A upstream_gene_variant SKCA-BR 22 21768763 21768763 single base substitution G A upstream_gene_variant SKCA-BR 22 21771556 21771556 single base substitution G C upstream_gene_variant SKCA-BR 22 21771598 21771598 single base substitution T C upstream_gene_variant SKCA-BR 22 21771600 21771600 single base substitution C T upstream_gene_variant SKCA-BR 22 21784043 21784043 single base substitution G A intron_variant SKCA-BR 22 21785173 21785173 single base substitution C A intron_variant SKCA-BR 22 21792248 21792248 single base substitution A G intron_variant SKCA-BR 22 21792248 21792248 single base substitution A G upstream_gene_variant SKCA-BR 22 21792489 21792489 single base substitution G T intron_variant SKCA-BR 22 21792489 21792489 single base substitution G T upstream_gene_variant SKCA-BR 22 21792494 21792494 single base substitution A C intron_variant SKCA-BR 22 21792494 21792494 single base substitution A C upstream_gene_variant SKCA-BR 22 21792691 21792691 single base substitution C T intron_variant SKCA-BR 22 21792691 21792691 single base substitution C T upstream_gene_variant SKCA-BR 22 21798391 21798391 single base substitution C T intron_variant SKCA-BR 22 21798810 21798810 single base substitution C T intron_variant SKCA-BR 22 21798811 21798811 single base substitution C T intron_variant SKCA-BR 22 21799883 21799883 single base substitution C T synonymous_variant S233S 699C>T SKCA-BR 22 21803499 21803499 single base substitution G T 3_prime_UTR_variant SKCA-BR 22 21803510 21803510 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 21803516 21803516 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 21804594 21804594 single base substitution C A 3_prime_UTR_variant SKCA-BR 22 21804594 21804594 single base substitution C A downstream_gene_variant SKCA-BR 22 21805406 21805406 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 21805406 21805406 single base substitution C T downstream_gene_variant SKCA-BR 22 21805507 21805507 single base substitution A G 3_prime_UTR_variant SKCA-BR 22 21805507 21805507 single base substitution A G downstream_gene_variant SKCA-BR 22 21805641 21805641 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 21805641 21805641 single base substitution G A downstream_gene_variant SKCM-US 22 21799328 21799328 single base substitution C T synonymous_variant V48V 144C>T SKCM-US 22 21799618 21799618 single base substitution C T missense_variant P145L 434C>T SKCM-US 22 21800043 21800043 single base substitution C T missense_variant P287S 859C>T SKCM-US 22 21800468 21800468 single base substitution G A synonymous_variant R428R 1284G>A SKCM-US 22 21800537 21800537 single base substitution C T synonymous_variant F451F 1353C>T SKCM-US 22 21800594 21800594 single base substitution C T synonymous_variant F470F 1410C>T SKCM-US 22 21800647 21800647 single base substitution C T missense_variant A488V 1463C>T SKCM-US 22 21800779 21800779 single base substitution C T missense_variant P532L 1595C>T SKCM-US 22 21800780 21800780 single base substitution C T synonymous_variant P532P 1596C>T SKCM-US 22 21800874 21800874 single base substitution G A missense_variant D564N 1690G>A SKCM-US 22 21800898 21800898 single base substitution C T missense_variant R572C 1714C>T SKCM-US 22 21800972 21800972 single base substitution C T synonymous_variant G596G 1788C>T STAD-US 22 21799216 21799216 single base substitution G A missense_variant C11Y 32G>A STAD-US 22 21799218 21799218 single base substitution G A missense_variant A12T 34G>A STAD-US 22 21799230 21799230 single base substitution C T missense_variant R16C 46C>T STAD-US 22 21799242 21799242 single base substitution G T missense_variant G20W 58G>T STAD-US 22 21799284 21799284 single base substitution C T synonymous_variant L34L 100C>T STAD-US 22 21799327 21799327 single base substitution T C missense_variant V48A 143T>C STAD-US 22 21799520 21799520 single base substitution C T synonymous_variant A112A 336C>T STAD-US 22 21799578 21799578 single base substitution G A missense_variant A132T 394G>A STAD-US 22 21799658 21799658 single base substitution G C synonymous_variant R158R 474G>C STAD-US 22 21799829 21799829 single base substitution C T synonymous_variant G215G 645C>T STAD-US 22 21799865 21799865 deletion of <=200bp G - frameshift_variant L227 STAD-US 22 21799992 21799992 single base substitution G A missense_variant A270T 808G>A STAD-US 22 21800189 21800191 deletion of <=200bp GAA - inframe_deletion RK335R STAD-US 22 21800343 21800343 single base substitution C G missense_variant P387A 1159C>G STAD-US 22 21800421 21800421 single base substitution G A missense_variant G413R 1237G>A STAD-US 22 21800429 21800429 deletion of <=200bp G - frameshift_variant E415 STAD-US 22 21800451 21800451 single base substitution G A missense_variant A423T 1267G>A STAD-US 22 21800502 21800502 single base substitution A G missense_variant N440D 1318A>G STAD-US 22 21800560 21800560 single base substitution C T missense_variant A459V 1376C>T STAD-US 22 21800714 21800714 single base substitution C T synonymous_variant C510C 1530C>T STAD-US 22 21800745 21800745 single base substitution C T missense_variant R521W 1561C>T STAD-US 22 21800988 21800988 single base substitution C T missense_variant R602C 1804C>T STAD-US 22 21801009 21801009 single base substitution C T missense_variant R609C 1825C>T UCEC-US 22 21799248 21799248 single base substitution G A missense_variant D22N 64G>A UCEC-US 22 21799271 21799271 single base substitution G A synonymous_variant S29S 87G>A UCEC-US 22 21799356 21799356 single base substitution C A synonymous_variant R58R 172C>A UCEC-US 22 21799472 21799472 single base substitution C G missense_variant I96M 288C>G UCEC-US 22 21799743 21799743 single base substitution G A missense_variant A187T 559G>A UCEC-US 22 21800178 21800178 single base substitution C T missense_variant H332Y 994C>T UCEC-US 22 21800636 21800636 single base substitution C T synonymous_variant A484A 1452C>T UCEC-US 22 21800884 21800884 single base substitution G A missense_variant G567D 1700G>A UCEC-US 22 21800951 21800951 single base substitution C T synonymous_variant Y589Y 1767C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CD-A4MG-01 COSM4102875 c.1561C>T p.R521W Substitution - Missense 22:21446456-21446456 + BCM735T COSM4790645 c.355C>G p.L119V Substitution - Missense 22:21445250-21445250 + TCGA-60-2698-01 COSM725508 c.27-1G>A p.? Unknown 22:21444921-21444921 + CHC155T COSM3668587 c.1018G>T p.G340C Substitution - Missense 22:21445913-21445913 + TCGA-G3-A25V-01 COSM4914526 c.1681T>C p.F561L Substitution - Missense 22:21446576-21446576 + LS411 COSM4646674 c.482G>A p.R161H Substitution - Missense 22:21445377-21445377 + CHC437T COSM4957995 c.530G>T p.G177V Substitution - Missense 22:21445425-21445425 + TCGA-B5-A11Y-01 COSM1032452 c.1767C>T p.Y589Y Substitution - coding silent 22:21446662-21446662 + TCGA-CG-5721-01 COSM4102866 c.143T>C p.V48A Substitution - Missense 22:21445038-21445038 + TCGA-B5-A11E-01 COSM1032443 c.64G>A p.D22N Substitution - Missense 22:21444959-21444959 + MOLT-4 COSM269310 c.1742G>A p.R581H Substitution - Missense 22:21446637-21446637 + T3152 COSM1415062 c.681delG p.G229fs*45 Deletion - Frameshift 22:21445576-21445576 + BCM723T COSM3308837 c.1338C>A p.P446P Substitution - coding silent 22:21446233-21446233 + TCGA-EE-A3AG-06 COSM3552399 c.1284G>A p.R428R Substitution - coding silent 22:21446179-21446179 + HN_62739 COSM128159 c.1230G>T p.A410A Substitution - coding silent 22:21446125-21446125 + 20T COSM3713656 c.1575G>T p.K525N Substitution - Missense 22:21446470-21446470 + CSCC-54-T COSM4481346 c.24C>T p.L8L Substitution - coding silent 22:21442855-21442855 + TCGA-BR-4280-01 COSM3308843 c.1530C>T p.C510C Substitution - coding silent 22:21446425-21446425 + SC_9012 COSM5561071 c.1373A>T p.N458I Substitution - Missense 22:21446268-21446268 + LS174T COSM3308819 c.690C>T p.C230C Substitution - coding silent 22:21445585-21445585 + TCGA-CM-4746-01 COSM1415061 c.674C>T p.A225V Substitution - Missense 22:21445569-21445569 + TCGA-CD-8536-01 COSM3308849 c.1825C>T p.R609C Substitution - Missense 22:21446720-21446720 + TCGA-FW-A3R5-06 COSM3912437 c.1714C>T p.R572C Substitution - Missense 22:21446609-21446609 + TCGA-CM-5861-01 COSM1415065 c.894G>A p.L298L Substitution - coding silent 22:21445789-21445789 + TCGA-CD-A4MI-01 COSM4102861 c.32G>A p.C11Y Substitution - Missense 22:21444927-21444927 + CSCC-47-T COSM4564232 c.1074_1075GG>AA p.G359S Substitution - Missense 22:21445969-21445970 + CSCC-31-T COSM4469498 c.1601C>T p.P534L Substitution - Missense 22:21446496-21446496 + PCSI_0194_Pa_P COSM3379276 c.769C>T p.P257S Substitution - Missense 22:21445664-21445664 + LUAD-RT-S01852 COSM384944 c.36G>A p.A12A Substitution - coding silent 22:21444931-21444931 + B23 COSM1751750 c.302A>T p.Y101F Substitution - Missense 22:21445197-21445197 + TCGA-66-2777-01 COSM725506 c.1371C>T p.L457L Substitution - coding silent 22:21446266-21446266 + TCGA-GD-A3OQ-01 COSM1307990 c.949A>G p.S317G Substitution - Missense 22:21445844-21445844 + TCGA-AX-A0J1-01 COSM1032451 c.1700G>A p.G567D Substitution - Missense 22:21446595-21446595 + ML_41_T_01 COSM5033712 c.699C>T p.S233S Substitution - coding silent 22:21445594-21445594 + CSCC-38-T COSM4551457 c.529G>A p.G177R Substitution - Missense 22:21445424-21445424 + TCGA-EB-A3Y6-01 COSM3552403 c.1788C>T p.G596G Substitution - coding silent 22:21446683-21446683 + TCGA-B5-A0K9-01 COSM1032450 c.1452C>T p.A484A Substitution - coding silent 22:21446347-21446347 + OSCC-GB_00200111 COSM3713656 c.1575G>T p.K525N Substitution - Missense 22:21446470-21446470 + TCGA-A5-A0GB-01 COSM1032445 c.172C>A p.R58R Substitution - coding silent 22:21445067-21445067 + TCGA-A6-6653-01 COSM1415064 c.808G>A p.A270T Substitution - Missense 22:21445703-21445703 + TCGA-AZ-6601-01 COSM1415066 c.1296C>T p.Y432Y Substitution - coding silent 22:21446191-21446191 + TCGA-A6-5665-01 COSM1415062 c.681delG p.G229fs*45 Deletion - Frameshift 22:21445576-21445576 + TCGA-EE-A2MS-06 COSM3552402 c.1690G>A p.D564N Substitution - Missense 22:21446585-21446585 + TCGA-D3-A5GO-06 COSM3552398 c.434C>T p.P145L Substitution - Missense 22:21445329-21445329 + SNUH_G45_S1 COSM3681391 c.452C>T p.A151V Substitution - Missense 22:21445347-21445347 + TCGA-CG-5721-01 COSM4102874 c.1318A>G p.N440D Substitution - Missense 22:21446213-21446213 + HCT116 COSM4612425 c.1572_1573insA p.T526fs*40 Insertion - Frameshift 22:21446467-21446468 + TCGA-FW-A3R5-06 COSM3912435 c.1353C>T p.F451F Substitution - coding silent 22:21446248-21446248 + pfg212T COSM1415063 c.769delC p.P258fs*16 Deletion - Frameshift 22:21445664-21445664 + PD23574a COSM5771228 c.945C>T p.H315H Substitution - coding silent 22:21445840-21445840 + CSCC-41-T COSM4526751 c.1417G>A p.E473K Substitution - Missense 22:21446312-21446312 + TCGA-BR-4184-01 COSM3308838 c.1376C>T p.A459V Substitution - Missense 22:21446271-21446271 + TCGA-BP-4174-01 COSM3363565 c.1652A>G p.H551R Substitution - Missense 22:21446547-21446547 + PCSI_0194_Pa_P COSM3379277 c.770C>T p.P257L Substitution - Missense 22:21445665-21445665 + P158 COSM1737705 c.142G>A p.V48I Substitution - Missense 22:21445037-21445037 + CSCC-49-T COSM4470932 c.168C>T p.I56I Substitution - coding silent 22:21445063-21445063 + T3724 COSM4690289 c.894delG p.G300fs*17 Deletion - Frameshift 22:21445789-21445789 + TCGA-23-1122-01 COSM115682 c.1730C>T p.T577M Substitution - Missense 22:21446625-21446625 + TCGA-AP-A059-01 COSM1032448 c.994C>T p.H332Y Substitution - Missense 22:21445889-21445889 + TCGA-EE-A2GE-06 COSM3552397 c.144C>T p.V48V Substitution - coding silent 22:21445039-21445039 + ESO-043 COSM1254180 c.713G>A p.S238N Substitution - Missense 22:21445608-21445608 + TCGA-EE-A2A2-06 COSM3552401 c.1595C>T p.P532L Substitution - Missense 22:21446490-21446490 + CHEWS012 COSM4582229 c.1497G>A p.T499T Substitution - coding silent 22:21446392-21446392 + TCGA-AD-6889-01 COSM1415060 c.474_475insC p.R161fs*40 Insertion - Frameshift 22:21445369-21445370 + TCGA-EE-A3JB-06 COSM4898840 c.1596C>T p.P532P Substitution - coding silent 22:21446491-21446491 + 8065126 COSM4389864 c.907G>T p.D303Y Substitution - Missense 22:21445802-21445802 + LU-1991 COSM5614854 c.772C>T p.P258S Substitution - Missense 22:21445667-21445667 + ESO-250 COSM1254181 c.1254C>T p.S418S Substitution - coding silent 22:21446149-21446149 + ESO-0292 COSM1241256 c.1209G>T p.K403N Substitution - Missense 22:21446104-21446104 + PANTSM COSM5004184 c.1634_1635insT p.G546fs*20 Insertion - Frameshift 22:21446529-21446530 + TCGA-AM-5821-01 COSM3308807 c.47G>A p.R16H Substitution - Missense 22:21444942-21444942 + HCT15 COSM1682130 c.643G>T p.G215C Substitution - Missense 22:21445538-21445538 + T3202 COSM4690290 c.1171delC p.Y393fs*137 Deletion - Frameshift 22:21446066-21446066 + CRC-23T COSM5482609 c.1633C>T p.R545C Substitution - Missense 22:21446528-21446528 + TCGA-JW-A5VL-01 COSM4846517 c.402C>A p.L134L Substitution - coding silent 22:21445297-21445297 + T3503 COSM4690286 c.410G>A p.R137H Substitution - Missense 22:21445305-21445305 + TCGA-51-4080-01 COSM725507 c.590C>T p.S197L Substitution - Missense 22:21445485-21445485 + TCGA-F1-6874-01 COSM4102864 c.58G>T p.G20W Substitution - Missense 22:21444953-21444953 + ESCC_57 COSM1415060 c.474_475insC p.R161fs*40 Insertion - Frameshift 22:21445369-21445370 + I2L-P7-Tumor-Organoid COSM5366590 c.1279T>C p.Y427H Substitution - Missense 22:21446174-21446174 + ESCC_BICR_034T COSM5443523 c.1044C>A p.S348S Substitution - coding silent 22:21445939-21445939 + PCSI_0108_Pa_P COSM216555 c.253A>G p.T85A Substitution - Missense 22:21445148-21445148 + TCGA-D7-A4YY-01 COSM4102868 c.394G>A p.A132T Substitution - Missense 22:21445289-21445289 + TCGA-D1-A103-01 COSM1032447 c.559G>A p.A187T Substitution - Missense 22:21445454-21445454 + TCGA-BR-7851-01 COSM4102865 c.100C>T p.L34L Substitution - coding silent 22:21444995-21444995 + TCGA-A2-A3XU-01 COSM3842252 c.1805G>C p.R602P Substitution - Missense 22:21446700-21446700 + CSCC-41-T COSM4511982 c.887C>T p.S296F Substitution - Missense 22:21445782-21445782 + SK-OV-3 COSM1682131 c.1577C>T p.T526M Substitution - Missense 22:21446472-21446472 + CHC437T COSM4957995 c.530G>T p.G177V Substitution - Missense 22:21445425-21445425 + TCGA-WS-AB45-01 COSM4450174 c.475delC p.R161fs*113 Deletion - Frameshift 22:21445370-21445370 + B23-Tumor COSM1751750 c.302A>T p.Y101F Substitution - Missense 22:21445197-21445197 + CSCC-20-T COSM4516475 c.194_195CC>TT p.A65V Substitution - Missense 22:21445089-21445090 + T3503 COSM4690287 c.545G>A p.R182H Substitution - Missense 22:21445440-21445440 + TCGA-BR-4368-01 COSM1415064 c.808G>A p.A270T Substitution - Missense 22:21445703-21445703 + CSCC-27-T COSM4460784 c.1179C>T p.Y393Y Substitution - coding silent 22:21446074-21446074 + CSCC-20-T COSM4450174 c.475delC p.R161fs*113 Deletion - Frameshift 22:21445370-21445370 + PT21_2 COSM3308822 c.761C>T p.P254L Substitution - Missense 22:21445656-21445656 + 8034048 COSM3390120 c.232G>T p.D78Y Substitution - Missense 22:21445127-21445127 + TCGA-F4-6570-01 COSM1415063 c.769delC p.P258fs*16 Deletion - Frameshift 22:21445664-21445664 + TCGA-BR-4361-01 COSM4102870 c.645C>T p.G215G Substitution - coding silent 22:21445540-21445540 + ESCC_77 COSM5635370 c.1311C>T p.Y437Y Substitution - coding silent 22:21446206-21446206 + ESO-859 COSM1239064 c.1741C>T p.R581C Substitution - Missense 22:21446636-21446636 + PCSI_0105_Pa_P_526 COSM4962182 c.1834A>G p.T612A Substitution - Missense 22:21446729-21446729 + TCGA-AA-3715-01 COSM269310 c.1742G>A p.R581H Substitution - Missense 22:21446637-21446637 + BCM723T COSM3308837 c.1338C>A p.P446P Substitution - coding silent 22:21446233-21446233 + Au1 COSM5596839 c.932C>T p.A311V Substitution - Missense 22:21445827-21445827 + pfg143T COSM4751074 c.1837T>C p.S613P Substitution - Missense 22:21446732-21446732 + CHOL12 COSM1743491 c.1784G>T p.G595V Substitution - Missense 22:21446679-21446679 + TCGA-66-2770-01 COSM725505 c.1635C>T p.R545R Substitution - coding silent 22:21446530-21446530 + pfg212T COSM4751072 c.962C>T p.A321V Substitution - Missense 22:21445857-21445857 + TCGA-G4-6628-01 COSM1415067 c.1308C>A p.S436S Substitution - coding silent 22:21446203-21446203 + T3225 COSM4690285 c.318G>A p.L106L Substitution - coding silent 22:21445213-21445213 + TCGA-G4-6302-01 COSM1415062 c.681delG p.G229fs*45 Deletion - Frameshift 22:21445576-21445576 + 40M COSM5585423 c.1632G>A p.Q544Q Substitution - coding silent 22:21446527-21446527 + PCSI_0108_Pa_P_526 COSM216555 c.253A>G p.T85A Substitution - Missense 22:21445148-21445148 + TCGA-BR-4184-01 COSM4102862 c.34G>A p.A12T Substitution - Missense 22:21444929-21444929 + TCGA-D3-A5GO-06 COSM3308825 c.859C>T p.P287S Substitution - Missense 22:21445754-21445754 + TCGA-AA-A01P-01 COSM1415062 c.681delG p.G229fs*45 Deletion - Frameshift 22:21445576-21445576 + CRC-06T COSM5456937 c.1341C>T p.C447C Substitution - coding silent 22:21446236-21446236 + DLD1 COSM1682130 c.643G>T p.G215C Substitution - Missense 22:21445538-21445538 + TCGA-FS-A1ZM-06 COSM3552400 c.1410C>T p.F470F Substitution - coding silent 22:21446305-21446305 + TCGA-06-0142 COSM2149688 c.846_847delTG p.A283fs*14 Deletion - Frameshift 22:21445741-21445742 + TCGA-BR-A4QL-01 COSM4102869 c.474G>C p.R158R Substitution - coding silent 22:21445369-21445369 + TCGA-CG-5721-01 COSM4102863 c.46C>T p.R16C Substitution - Missense 22:21444941-21444941 + LIM2551 COSM3308835 c.1282C>T p.R428W Substitution - Missense 22:21446177-21446177 + T3202 COSM4690284 c.162C>T p.N54N Substitution - coding silent 22:21445057-21445057 + TCGA-BR-6452-01 COSM4102871 c.1159C>G p.P387A Substitution - Missense 22:21446054-21446054 + PT21_2 COSM5902167 c.1258C>T p.H420Y Substitution - Missense 22:21446153-21446153 + TCGA-D5-7000-01 COSM5166920 c.1641C>T p.T547T Substitution - coding silent 22:21446536-21446536 + TCGA-AN-A0AK-01 COSM3842251 c.1706G>A p.R569H Substitution - Missense 22:21446601-21446601 + CRC-10T COSM5457702 c.534C>T p.L178L Substitution - coding silent 22:21445429-21445429 + TCGA-AM-5820-01 COSM3759061 c.1085C>T p.P362L Substitution - Missense 22:21445980-21445980 + TCGA-CK-4951-01 COSM4751073 c.1657C>T p.R553W Substitution - Missense 22:21446552-21446552 + TCGA-AM-5820-01 COSM3308807 c.47G>A p.R16H Substitution - Missense 22:21444942-21444942 + pfg092T COSM4751073 c.1657C>T p.R553W Substitution - Missense 22:21446552-21446552 + LS180 COSM3308819 c.690C>T p.C230C Substitution - coding silent 22:21445585-21445585 + TCGA-AA-3811-01 COSM4690287 c.545G>A p.R182H Substitution - Missense 22:21445440-21445440 + TCGA-FW-A3R5-06 COSM3912436 c.1463C>T p.A488V Substitution - Missense 22:21446358-21446358 + 12T COSM109493 c.1549C>T p.P517S Substitution - Missense 22:21446444-21446444 + LUAD-74TBW COSM355168 c.1347G>T p.K449N Substitution - Missense 22:21446242-21446242 + 8016470 COSM3390121 c.1108G>A p.G370R Substitution - Missense 22:21446003-21446003 + T2932 COSM4690288 c.893_894insG p.T301fs*3 Insertion - Frameshift 22:21445788-21445789 + LUAD-F00282 COSM367318 c.685G>T p.G229C Substitution - Missense 22:21445580-21445580 + TCGA-D1-A16X-01 COSM1032444 c.87G>A p.S29S Substitution - coding silent 22:21444982-21444982 + SNUH_G76_S1 COSM3308827 c.914C>T p.P305L Substitution - Missense 22:21445809-21445809 + CHC155T COSM3668587 c.1018G>T p.G340C Substitution - Missense 22:21445913-21445913 + HCC058T COSM5805242 c.675G>T p.A225A Substitution - coding silent 22:21445570-21445570 + TCGA-BR-8078-01 COSM4102876 c.1804C>T p.R602C Substitution - Missense 22:21446699-21446699 + TCGA-D1-A16J-01 COSM1032449 c.1327G>T p.V443L Substitution - Missense 22:21446222-21446222 + MX04 COSM5759632 c.1436C>T p.T479I Substitution - Missense 22:21446331-21446331 + CRC-02T COSM5454989 c.1705C>T p.R569C Substitution - Missense 22:21446600-21446600 + TCGA-F1-6874-01 COSM4102867 c.336C>T p.A112A Substitution - coding silent 22:21445231-21445231 + TCGA-G4-6304-01 COSM4450174 c.475delC p.R161fs*113 Deletion - Frameshift 22:21445370-21445370 + T2664 COSM4690291 c.1756G>A p.E586K Substitution - Missense 22:21446651-21446651 + HCT-15 COSM1682130 c.643G>T p.G215C Substitution - Missense 22:21445538-21445538 + TCGA-AP-A0LI-01 COSM1032446 c.288C>G p.I96M Substitution - Missense 22:21445183-21445183 + TCGA-HU-A4GU-01 COSM4102873 c.1267G>A p.A423T Substitution - Missense 22:21446162-21446162 + BCM735T COSM4790645 c.355C>G p.L119V Substitution - Missense 22:21445250-21445250 + D38 COSM5546369 c.1046C>T p.P349L Substitution - Missense 22:21445941-21445941 + TCGA-CG-5728-01 COSM4102872 c.1237G>A p.G413R Substitution - Missense 22:21446132-21446132 + TCGA-A6-5665-01 COSM4450174 c.475delC p.R161fs*113 Deletion - Frameshift 22:21445370-21445370 + TCGA-BR-4361-01 COSM3308838 c.1376C>T p.A459V Substitution - Missense 22:21446271-21446271 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632767 22q11.21 607712 630029|dbSNP|BC094787|A/C|non-coding||2467|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H551R c.1652A>G 22 21800836 RCCC A G Missense p.S317G c.949A>G 22 21800133 BLCA A G Missense p.T85A c.253A>G 22 21799437 PAAD C A Synonymous p.R58R c.172C>A 22 21799356 UCEC C G Missense p.I96M c.288C>G 22 21799472 UCEC C T Missense p.P532L c.1595C>T 22 21800779 CM C T Missense p.R581C c.1741C>T 22 21800925 ESCA C T Missense p.S197L c.590C>T 22 21799774 LUSC C T Missense p.T577M c.1730C>T 22 21800914 OV C T Nonsense p.Q176* c.526C>T 22 21799710 HNSC C T Synonymous p.A112A c.336C>T 22 21799520 STAD C T Synonymous p.A484A c.1452C>T 22 21800636 UCEC C T Synonymous p.C510C c.1530C>T 22 21800714 STAD C T Synonymous p.F470F c.1410C>T 22 21800594 CM C T Synonymous p.F542F c.1626C>T 22 21800810 LUAD C T Synonymous p.G279G c.837C>T 22 21800021 CM C T Synonymous p.L457L c.1371C>T 22 21800555 LUSC C T Synonymous p.P532P c.1596C>T 22 21800780 CM C T Synonymous p.R545R c.1635C>T 22 21800819 LUSC C T Synonymous p.S238S c.714C>T 22 21799898 HNSC C T Synonymous p.V48V c.144C>T 22 21799328 CM C T Synonymous p.Y589Y c.1767C>T 22 21800951 UCEC G A Missense p.A270T c.808G>A 22 21799992 LGG G A Missense p.A270T c.808G>A 22 21799992 STAD G A Missense p.D564N c.1690G>A 22 21800874 CM G A Missense p.G413R c.1237G>A 22 21800421 STAD G A Missense p.S238N c.713G>A 22 21799897 ESCA G A Synonymous p.R428R c.1284G>A 22 21800468 CM G C Missense p.L441F c.1323G>C 22 21800507 HNSC G - IntronicDeletion . c.26+21delG 22 21797162 ESCA G T Missense p.G20W c.58G>T 22 21799242 STAD G T Missense p.G300V c.899G>T 22 21800083 HNSC G T Synonymous p.A410A c.1230G>T 22 21800414 HNSC G T Synonymous p.V435V c.1305G>T 22 21800489 LUAD T A 3-UTRSNV . c.1845+40T>A 22 21801069 CM