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 31740473 31740473 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr22:31740473C>T c.1116G>A c.(1114-1116)cgG>cgA p.R372R ACC 22 31741473 31741473 + Missense_Mutation SNP C C A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr22:31741473C>A c.116G>T c.(115-117)cGc>cTc p.R39L BLCA 22 31722909 31722909 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr22:31722909C>G c.2032G>C c.(2032-2034)Gac>Cac p.D678H BLCA 22 31722980 31722980 + Missense_Mutation SNP G G T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr22:31722980G>T c.1961C>A c.(1960-1962)tCt>tAt p.S654Y BLCA 22 31723201 31723201 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr22:31723201C>T c.1740G>A c.(1738-1740)caG>caA p.Q580Q BLCA 22 31731850 31731850 + Splice_Site SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr22:31731850C>G c.e3-1 BLCA 22 31737399 31737399 + Intron SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr22:31737399C>T BLCA 22 31737642 31737642 + Intron SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 g.chr22:31737642G>A BLCA 22 31738885 31738885 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr22:31738885G>A c.1333C>T c.(1333-1335)Cag>Tag p.Q445* BLCA 22 31738908 31738908 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 g.chr22:31738908G>A c.1310C>T c.(1309-1311)aCt>aTt p.T437I BLCA 22 31740604 31740604 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr22:31740604G>C c.985C>G c.(985-987)Ccg>Gcg p.P329A BLCA 22 31740795 31740795 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr22:31740795C>T c.794G>A c.(793-795)cGa>cAa p.R265Q BLCA 22 31741099 31741099 + Silent SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr22:31741099G>A c.490C>T c.(490-492)Ctg>Ttg p.L164L BLCA 22 31741457 31741457 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr22:31741457G>A c.132C>T c.(130-132)ctC>ctT p.L44L BRCA 22 31731814 31731814 + Silent SNP C C T TCGA-EW-A1OZ-01A-11D-A142-09 TCGA-EW-A1OZ-10A-01D-A142-09 g.chr22:31731814C>T c.1371G>A c.(1369-1371)ctG>ctA p.L457L CESC 22 31740386 31740387 + Frame_Shift_Ins INS - - T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 g.chr22:31740386_31740387insT c.1202_1203insA c.(1201-1203)catfs p.H401fs CESC 22 31740573 31740573 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr22:31740573G>C c.1016C>G c.(1015-1017)tCt>tGt p.S339C CESC 22 31741129 31741129 + Nonsense_Mutation SNP C C A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr22:31741129C>A c.460G>T c.(460-462)Gaa>Taa p.E154* CESC 22 31741282 31741282 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr22:31741282C>G c.307G>C c.(307-309)Gag>Cag p.E103Q CHOL 22 31731753 31731753 + Missense_Mutation SNP G G A TCGA-W5-AA2Z-01A-11D-A417-09 TCGA-W5-AA2Z-11A-11D-A41A-09 g.chr22:31731753G>A c.1432C>T c.(1432-1434)Cgg>Tgg p.R478W COAD 22 31722935 31722935 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr22:31722935G>A c.2006C>T c.(2005-2007)gCg>gTg p.A669V COAD 22 31737575 31737575 + Intron SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:31737575G>A COAD 22 31740706 31740706 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr22:31740706C>A c.883G>T c.(883-885)Ggt>Tgt p.G295C COAD 22 31741056 31741056 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:31741056delG c.533delC c.(532-534)cctfs p.P178fs COAD 22 31741262 31741262 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr22:31741262G>A c.327C>T c.(325-327)atC>atT p.I109I COAD 22 31741325 31741325 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:31741325C>T c.264G>A c.(262-264)ggG>ggA p.G88G COADREAD 22 31722935 31722935 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr22:31722935G>A c.2006C>T c.(2005-2007)gCg>gTg p.A669V COADREAD 22 31723166 31723166 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:31723166A>G c.1775T>C c.(1774-1776)gTc>gCc p.V592A COADREAD 22 31737575 31737575 + Intron SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:31737575G>A COADREAD 22 31740706 31740706 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr22:31740706C>A c.883G>T c.(883-885)Ggt>Tgt p.G295C COADREAD 22 31741056 31741056 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:31741056delG c.533delC c.(532-534)cctfs p.P178fs COADREAD 22 31741262 31741262 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr22:31741262G>A c.327C>T c.(325-327)atC>atT p.I109I COADREAD 22 31741325 31741325 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:31741325C>T c.264G>A c.(262-264)ggG>ggA p.G88G DLBC 22 31741415 31741415 + Silent SNP C C T TCGA-FA-A6HN-01A-11D-A31X-10 TCGA-FA-A6HN-10A-01D-A31X-10 g.chr22:31741415C>T c.174G>A c.(172-174)gtG>gtA p.V58V ESCA 22 31723129 31723131 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr22:31723129_31723131delCTT c.1810_1812delAAG c.(1810-1812)aagdel p.K604del ESCA 22 31724828 31724828 + Missense_Mutation SNP C C G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 g.chr22:31724828C>G c.1590G>C c.(1588-1590)gaG>gaC p.E530D ESCA 22 31737641 31737641 + Intron SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr22:31737641G>A ESCA 22 31740542 31740542 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr22:31740542G>T c.1047C>A c.(1045-1047)agC>agA p.S349R ESCA 22 31741150 31741150 + Missense_Mutation SNP A A T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr22:31741150A>T c.439T>A c.(439-441)Tcg>Acg p.S147T GBMLGG 22 31740738 31740738 + Missense_Mutation SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 g.chr22:31740738C>T c.851G>A c.(850-852)gGg>gAg p.G284E HNSC 22 31731763 31731763 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chr22:31731763C>T c.1422G>A c.(1420-1422)ggG>ggA p.G474G HNSC 22 31737633 31737633 + Intron SNP C C T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr22:31737633C>T HNSC 22 31740796 31740796 + Nonsense_Mutation SNP G G A TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr22:31740796G>A c.793C>T c.(793-795)Cga>Tga p.R265* HNSC 22 31741062 31741062 + Missense_Mutation SNP C C T TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 g.chr22:31741062C>T c.527G>A c.(526-528)cGc>cAc p.R176H KICH 22 31741114 31741114 + Missense_Mutation SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr22:31741114A>G c.475T>C c.(475-477)Tcc>Ccc p.S159P KIPAN 22 31741114 31741114 + Missense_Mutation SNP A A G TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr22:31741114A>G c.475T>C c.(475-477)Tcc>Ccc p.S159P KIPAN 22 31741483 31741483 + Missense_Mutation SNP T T A TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr22:31741483T>A c.106A>T c.(106-108)Aac>Tac p.N36Y KIRC 22 31741483 31741483 + Missense_Mutation SNP T T A TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr22:31741483T>A c.106A>T c.(106-108)Aac>Tac p.N36Y LGG 22 31740738 31740738 + Missense_Mutation SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 g.chr22:31740738C>T c.851G>A c.(850-852)gGg>gAg p.G284E LIHC 22 31723029 31723029 + Frame_Shift_Del DEL C C - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr22:31723029delC c.1912delG c.(1912-1914)gacfs p.D638fs LIHC 22 31724792 31724792 + Silent SNP G G A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr22:31724792G>A c.1626C>T c.(1624-1626)gcC>gcT p.A542A LUAD 22 31722972 31722972 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr22:31722972C>G c.1969G>C c.(1969-1971)Gag>Cag p.E657Q LUAD 22 31722987 31722987 + Missense_Mutation SNP T T A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr22:31722987T>A c.1954A>T c.(1954-1956)Aac>Tac p.N652Y LUAD 22 31723239 31723239 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr22:31723239G>A c.1702C>T c.(1702-1704)Ctc>Ttc p.L568F LUAD 22 31740992 31740992 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr22:31740992G>A c.597C>T c.(595-597)agC>agT p.S199S LUAD 22 31741081 31741081 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr22:31741081C>G c.508G>C c.(508-510)Gcc>Ccc p.A170P LUAD 22 31741545 31741545 + Missense_Mutation SNP T T C TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr22:31741545T>C c.44A>G c.(43-45)tAc>tGc p.Y15C LUSC 22 31722878 31722878 + Nonstop_Mutation SNP C C G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr22:31722878C>G c.2063G>C c.(2062-2064)tGa>tCa p.*688S LUSC 22 31722996 31722996 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr22:31722996G>A c.1945C>T c.(1945-1947)Cct>Tct p.P649S LUSC 22 31724897 31724897 + Silent SNP G G C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr22:31724897G>C c.1521C>G c.(1519-1521)gcC>gcG p.A507A LUSC 22 31740795 31740795 + Missense_Mutation SNP C C T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr22:31740795C>T c.794G>A c.(793-795)cGa>cAa p.R265Q LUSC 22 31741322 31741322 + Silent SNP G G A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr22:31741322G>A c.267C>T c.(265-267)ggC>ggT p.G89G OV 22 31731753 31731753 + Missense_Mutation SNP G G A TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 g.chr22:31731753G>A c.1432C>T c.(1432-1434)Cgg>Tgg p.R478W PAAD 22 31731752 31731752 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:31731752C>T c.1433G>A c.(1432-1434)cGg>cAg p.R478Q PAAD 22 31740382 31740382 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr22:31740382G>A c.1207C>T c.(1207-1209)Cgg>Tgg p.R403W PAAD 22 31740473 31740473 + Silent SNP C C T TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chr22:31740473C>T c.1116G>A c.(1114-1116)cgG>cgA p.R372R PAAD 22 31740473 31740473 + Silent SNP C C T TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 g.chr22:31740473C>T c.1116G>A c.(1114-1116)cgG>cgA p.R372R PAAD 22 31740475 31740475 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr22:31740475G>A c.1114C>T c.(1114-1116)Cgg>Tgg p.R372W PRAD 22 31723224 31723224 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr22:31723224C>T c.1717G>A c.(1717-1719)Gac>Aac p.D573N PRAD 22 31731813 31731813 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:31731813G>A c.1372C>T c.(1372-1374)Cgc>Tgc p.R458C READ 22 31723166 31723166 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:31723166A>G c.1775T>C c.(1774-1776)gTc>gCc p.V592A SARC 22 31723052 31723052 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chr22:31723052C>T c.1889G>A c.(1888-1890)cGg>cAg p.R630Q SARC 22 31740562 31740562 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 g.chr22:31740562C>T c.1027G>A c.(1027-1029)Gac>Aac p.D343N SARC 22 31740715 31740715 + Missense_Mutation SNP G G T TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 g.chr22:31740715G>T c.874C>A c.(874-876)Ctt>Att p.L292I SKCM 22 31722980 31722980 + Missense_Mutation SNP G G A TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr22:31722980G>A c.1961C>T c.(1960-1962)tCt>tTt p.S654F SKCM 22 31722980 31722980 + Missense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr22:31722980G>A c.1961C>T c.(1960-1962)tCt>tTt p.S654F SKCM 22 31737630 31737630 + Intron SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:31737630G>A SKCM 22 31738934 31738934 + Missense_Mutation SNP C C G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr22:31738934C>G c.1284G>C c.(1282-1284)ttG>ttC p.L428F SKCM 22 31738942 31738942 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr22:31738942C>T c.1276G>A c.(1276-1278)Gat>Aat p.D426N SKCM 22 31740335 31740335 + Silent SNP A A G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr22:31740335A>G c.1254T>C c.(1252-1254)tgT>tgC p.C418C SKCM 22 31740408 31740408 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr22:31740408C>T c.1181G>A c.(1180-1182)aGa>aAa p.R394K SKCM 22 31740815 31740815 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr22:31740815G>A c.774C>T c.(772-774)gcC>gcT p.A258A SKCM 22 31740842 31740842 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:31740842G>A c.747C>T c.(745-747)tcC>tcT p.S249S SKCM 22 31741063 31741063 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:31741063G>A c.526C>T c.(526-528)Cgc>Tgc p.R176C SKCM 22 31741169 31741169 + Silent SNP G G A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 g.chr22:31741169G>A c.420C>T c.(418-420)gcC>gcT p.A140A

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 31723007 31723007 single base substitution G A 3_prime_UTR_variant BLCA-CN 22 31723007 31723007 single base substitution G A missense_variant S599L 1796C>T BLCA-CN 22 31723007 31723007 single base substitution G A missense_variant S645L 1934C>T BLCA-US 22 31722980 31722980 single base substitution G T 3_prime_UTR_variant BLCA-US 22 31722980 31722980 single base substitution G T missense_variant S608Y 1823C>A BLCA-US 22 31722980 31722980 single base substitution G T missense_variant S654Y 1961C>A BLCA-US 22 31731850 31731850 single base substitution C G downstream_gene_variant BLCA-US 22 31731850 31731850 single base substitution C G splice_acceptor_variant BLCA-US 22 31738885 31738885 single base substitution G A splice_region_variant BLCA-US 22 31738885 31738885 single base substitution G A stop_gained Q445* 1333C>T BRCA-EU 22 31717205 31717205 single base substitution G A downstream_gene_variant BRCA-EU 22 31718380 31718380 single base substitution T C downstream_gene_variant BRCA-EU 22 31718601 31718601 single base substitution C T downstream_gene_variant BRCA-EU 22 31718682 31718682 single base substitution G T downstream_gene_variant BRCA-EU 22 31719009 31719009 single base substitution T G downstream_gene_variant BRCA-EU 22 31719044 31719044 single base substitution G A downstream_gene_variant BRCA-EU 22 31719139 31719139 single base substitution G A downstream_gene_variant BRCA-EU 22 31719183 31719183 single base substitution G C downstream_gene_variant BRCA-EU 22 31719263 31719263 single base substitution G A downstream_gene_variant BRCA-EU 22 31719338 31719338 single base substitution G C downstream_gene_variant BRCA-EU 22 31721107 31721107 single base substitution C T downstream_gene_variant BRCA-EU 22 31721343 31721343 single base substitution C T downstream_gene_variant BRCA-EU 22 31721832 31721832 single base substitution A C 3_prime_UTR_variant BRCA-EU 22 31725616 31725616 single base substitution C G intron_variant BRCA-EU 22 31727550 31727550 single base substitution G C downstream_gene_variant BRCA-EU 22 31727550 31727550 single base substitution G C intron_variant BRCA-EU 22 31728508 31728508 single base substitution G A downstream_gene_variant BRCA-EU 22 31728508 31728508 single base substitution G A intron_variant BRCA-EU 22 31728509 31728509 single base substitution C T downstream_gene_variant BRCA-EU 22 31728509 31728509 single base substitution C T intron_variant BRCA-EU 22 31729571 31729571 single base substitution C G downstream_gene_variant BRCA-EU 22 31729571 31729571 single base substitution C G intron_variant BRCA-EU 22 31732164 31732164 single base substitution C T downstream_gene_variant BRCA-EU 22 31732164 31732164 single base substitution C T intron_variant BRCA-EU 22 31732415 31732415 single base substitution G C downstream_gene_variant BRCA-EU 22 31732415 31732415 single base substitution G C intron_variant BRCA-EU 22 31733618 31733618 single base substitution C G downstream_gene_variant BRCA-EU 22 31733618 31733618 single base substitution C G intron_variant BRCA-EU 22 31737460 31737460 single base substitution C T exon_variant BRCA-EU 22 31737460 31737460 single base substitution C T intron_variant BRCA-EU 22 31737460 31737460 single base substitution C T synonymous_variant P515P 1545G>A BRCA-EU 22 31738150 31738150 single base substitution C T intron_variant BRCA-EU 22 31739144 31739144 single base substitution C T exon_variant BRCA-EU 22 31739144 31739144 single base substitution C T intron_variant BRCA-EU 22 31739250 31739250 single base substitution G A exon_variant BRCA-EU 22 31739250 31739250 single base substitution G A intron_variant BRCA-EU 22 31744505 31744505 single base substitution A C upstream_gene_variant BRCA-EU 22 31745172 31745172 single base substitution C T upstream_gene_variant BRCA-EU 22 31745667 31745667 single base substitution T G upstream_gene_variant BRCA-EU 22 31745781 31745781 single base substitution G T upstream_gene_variant BRCA-EU 22 31746582 31746582 single base substitution T A upstream_gene_variant BRCA-FR 22 31718682 31718682 single base substitution G T downstream_gene_variant BRCA-FR 22 31719338 31719338 single base substitution G C downstream_gene_variant BRCA-FR 22 31738150 31738150 single base substitution C T intron_variant BRCA-FR 22 31739960 31739960 single base substitution C A intron_variant BRCA-FR 22 31739960 31739960 single base substitution C A upstream_gene_variant BRCA-FR 22 31741397 31741397 single base substitution C T synonymous_variant E64E 192G>A BRCA-FR 22 31741397 31741397 single base substitution C T upstream_gene_variant BRCA-UK 22 31723132 31723132 single base substitution C T 3_prime_UTR_variant BRCA-UK 22 31723132 31723132 single base substitution C T synonymous_variant K557K 1671G>A BRCA-UK 22 31723132 31723132 single base substitution C T synonymous_variant K603K 1809G>A BRCA-UK 22 31736989 31736989 single base substitution G C 3_prime_UTR_variant BRCA-UK 22 31736989 31736989 single base substitution G C exon_variant BRCA-UK 22 31736989 31736989 single base substitution G C intron_variant BRCA-UK 22 31741159 31741159 single base substitution G C missense_variant L144V 430C>G BRCA-UK 22 31741159 31741159 single base substitution G C upstream_gene_variant BRCA-US 22 31731814 31731814 single base substitution C T downstream_gene_variant BRCA-US 22 31731814 31731814 single base substitution C T exon_variant BRCA-US 22 31731814 31731814 single base substitution C T synonymous_variant L457L 1371G>A BTCA-JP 22 31741181 31741181 single base substitution G A synonymous_variant L136L 408C>T BTCA-JP 22 31741181 31741181 single base substitution G A upstream_gene_variant BTCA-JP 22 31741597 31741597 single base substitution C T 5_prime_UTR_variant BTCA-JP 22 31741597 31741597 single base substitution C T upstream_gene_variant BTCA-JP 22 31743690 31743690 single base substitution C T upstream_gene_variant CESC-US 22 31740386 31740386 insertion of <=200bp - T frameshift_variant H401H? CESC-US 22 31740386 31740386 insertion of <=200bp - T upstream_gene_variant CESC-US 22 31740573 31740573 single base substitution G C missense_variant S339C 1016C>G CESC-US 22 31740573 31740573 single base substitution G C upstream_gene_variant CESC-US 22 31741129 31741129 single base substitution C A stop_gained E154* 460G>T CESC-US 22 31741129 31741129 single base substitution C A upstream_gene_variant CESC-US 22 31741282 31741282 single base substitution C G missense_variant E103Q 307G>C CESC-US 22 31741282 31741282 single base substitution C G upstream_gene_variant CLLE-ES 22 31741876 31741876 single base substitution G T 5_prime_UTR_variant CLLE-ES 22 31741876 31741876 single base substitution G T upstream_gene_variant COAD-US 22 31740706 31740706 single base substitution C A missense_variant G295C 883G>T COAD-US 22 31740706 31740706 single base substitution C A upstream_gene_variant COAD-US 22 31741056 31741056 deletion of <=200bp G - frameshift_variant P178 COAD-US 22 31741056 31741056 deletion of <=200bp G - upstream_gene_variant COAD-US 22 31741262 31741262 single base substitution G A synonymous_variant I109I 327C>T COAD-US 22 31741262 31741262 single base substitution G A upstream_gene_variant COAD-US 22 31741335 31741335 single base substitution G C missense_variant A85G 254C>G COAD-US 22 31741335 31741335 single base substitution G C upstream_gene_variant COCA-CN 22 31739060 31739060 single base substitution C T exon_variant COCA-CN 22 31739060 31739060 single base substitution C T intron_variant COCA-CN 22 31739367 31739367 single base substitution G A exon_variant COCA-CN 22 31739367 31739367 single base substitution G A intron_variant COCA-CN 22 31739367 31739367 single base substitution G A upstream_gene_variant COCA-CN 22 31740284 31740284 single base substitution T C intron_variant COCA-CN 22 31740284 31740284 single base substitution T C upstream_gene_variant COCA-CN 22 31741620 31741620 single base substitution T G 5_prime_UTR_variant COCA-CN 22 31741620 31741620 single base substitution T G upstream_gene_variant EOPC-DE 22 31725337 31725337 single base substitution C T intron_variant ESAD-UK 22 31717994 31717994 single base substitution A C downstream_gene_variant ESAD-UK 22 31721082 31721082 single base substitution A C downstream_gene_variant ESAD-UK 22 31721323 31721323 single base substitution T A downstream_gene_variant ESAD-UK 22 31721768 31721768 single base substitution A C downstream_gene_variant ESAD-UK 22 31722455 31722455 single base substitution A G 3_prime_UTR_variant ESAD-UK 22 31731836 31731836 single base substitution G T downstream_gene_variant ESAD-UK 22 31731836 31731836 single base substitution G T exon_variant ESAD-UK 22 31731836 31731836 single base substitution G T missense_variant S450Y 1349C>A ESAD-UK 22 31734668 31734668 single base substitution C T downstream_gene_variant ESAD-UK 22 31734668 31734668 single base substitution C T intron_variant ESAD-UK 22 31737843 31737843 single base substitution G A intron_variant ESAD-UK 22 31740865 31740865 single base substitution G A synonymous_variant L242L 724C>T ESAD-UK 22 31740865 31740865 single base substitution G A upstream_gene_variant ESAD-UK 22 31745033 31745033 single base substitution C T upstream_gene_variant ESCA-CN 22 31737618 31737618 single base substitution C T exon_variant ESCA-CN 22 31737618 31737618 single base substitution C T intron_variant ESCA-CN 22 31737618 31737618 single base substitution C T missense_variant D463N 1387G>A KIRC-US 22 31741483 31741483 single base substitution T A missense_variant N36Y 106A>T KIRC-US 22 31741483 31741483 single base substitution T A upstream_gene_variant LAML-KR 22 31718047 31718047 single base substitution T C downstream_gene_variant LGG-US 22 31740738 31740738 single base substitution C T missense_variant G284E 851G>A LGG-US 22 31740738 31740738 single base substitution C T upstream_gene_variant LICA-CN 22 31737502 31737502 single base substitution G T exon_variant LICA-CN 22 31737502 31737502 single base substitution G T intron_variant LICA-CN 22 31737502 31737502 single base substitution G T synonymous_variant G501G 1503C>A LICA-FR 22 31731559 31731559 single base substitution G A exon_variant LICA-FR 22 31731559 31731559 single base substitution G A intron_variant LINC-JP 22 31721248 31721248 single base substitution C T downstream_gene_variant LINC-JP 22 31731293 31731293 single base substitution A G downstream_gene_variant LINC-JP 22 31731293 31731293 single base substitution A G intron_variant LINC-JP 22 31738777 31738777 single base substitution G A intron_variant LINC-JP 22 31740443 31740443 single base substitution G A synonymous_variant P382P 1146C>T LINC-JP 22 31740443 31740443 single base substitution G A upstream_gene_variant LINC-JP 22 31740502 31740502 single base substitution T G missense_variant I363L 1087A>C LINC-JP 22 31740502 31740502 single base substitution T G upstream_gene_variant LINC-JP 22 31740796 31740796 single base substitution G A stop_gained R265* 793C>T LINC-JP 22 31740796 31740796 single base substitution G A upstream_gene_variant LINC-JP 22 31742408 31742408 single base substitution T G upstream_gene_variant LINC-JP 22 31742986 31742986 single base substitution C A upstream_gene_variant LINC-JP 22 31745836 31745836 single base substitution A G upstream_gene_variant LIRI-JP 22 31717654 31717654 single base substitution C T downstream_gene_variant LIRI-JP 22 31718010 31718010 single base substitution C T downstream_gene_variant LIRI-JP 22 31719455 31719455 single base substitution G T downstream_gene_variant LIRI-JP 22 31721803 31721803 single base substitution T G 3_prime_UTR_variant LIRI-JP 22 31726735 31726735 single base substitution G A downstream_gene_variant LIRI-JP 22 31726735 31726735 single base substitution G A intron_variant LIRI-JP 22 31728032 31728032 single base substitution G C downstream_gene_variant LIRI-JP 22 31728032 31728032 single base substitution G C intron_variant LIRI-JP 22 31730907 31730907 single base substitution T C downstream_gene_variant LIRI-JP 22 31730907 31730907 single base substitution T C intron_variant LIRI-JP 22 31734018 31734018 deletion of <=200bp T - downstream_gene_variant LIRI-JP 22 31734018 31734018 deletion of <=200bp T - intron_variant LIRI-JP 22 31734733 31734733 single base substitution G C downstream_gene_variant LIRI-JP 22 31734733 31734733 single base substitution G C intron_variant LIRI-JP 22 31734760 31734760 single base substitution C T downstream_gene_variant LIRI-JP 22 31734760 31734760 single base substitution C T intron_variant LIRI-JP 22 31736108 31736108 single base substitution G T downstream_gene_variant LIRI-JP 22 31736108 31736108 single base substitution G T intron_variant LIRI-JP 22 31736310 31736310 single base substitution G A downstream_gene_variant LIRI-JP 22 31736310 31736310 single base substitution G A intron_variant LIRI-JP 22 31740391 31740391 single base substitution A T missense_variant Y400N 1198T>A LIRI-JP 22 31740391 31740391 single base substitution A T upstream_gene_variant LIRI-JP 22 31741047 31741047 single base substitution G A missense_variant S181L 542C>T LIRI-JP 22 31741047 31741047 single base substitution G A upstream_gene_variant LIRI-JP 22 31744894 31744894 single base substitution G A upstream_gene_variant LIRI-JP 22 31745034 31745034 single base substitution G A upstream_gene_variant LUSC-KR 22 31725016 31725016 single base substitution C A intron_variant LUSC-KR 22 31725775 31725775 single base substitution G A intron_variant LUSC-KR 22 31730532 31730532 single base substitution C T downstream_gene_variant LUSC-KR 22 31730532 31730532 single base substitution C T intron_variant LUSC-KR 22 31736322 31736322 single base substitution T C downstream_gene_variant LUSC-KR 22 31736322 31736322 single base substitution T C intron_variant LUSC-KR 22 31745644 31745644 single base substitution C G upstream_gene_variant LUSC-KR 22 31746491 31746491 single base substitution G T upstream_gene_variant LUSC-KR 22 31746981 31746981 single base substitution C G upstream_gene_variant LUSC-US 22 31722878 31722878 single base substitution C G 3_prime_UTR_variant LUSC-US 22 31722878 31722878 single base substitution C G stop_lost *642S 1925G>C LUSC-US 22 31722878 31722878 single base substitution C G stop_lost *688S 2063G>C LUSC-US 22 31722996 31722996 single base substitution G A 3_prime_UTR_variant LUSC-US 22 31722996 31722996 single base substitution G A missense_variant P603S 1807C>T LUSC-US 22 31722996 31722996 single base substitution G A missense_variant P649S 1945C>T LUSC-US 22 31724897 31724897 single base substitution G C intron_variant LUSC-US 22 31724897 31724897 single base substitution G C synonymous_variant A507A 1521C>G LUSC-US 22 31740795 31740795 single base substitution C T missense_variant R265Q 794G>A LUSC-US 22 31740795 31740795 single base substitution C T upstream_gene_variant LUSC-US 22 31741322 31741322 single base substitution G A synonymous_variant G89G 267C>T LUSC-US 22 31741322 31741322 single base substitution G A upstream_gene_variant MALY-DE 22 31724475 31724475 single base substitution A C intron_variant MALY-DE 22 31727332 31727332 single base substitution T C downstream_gene_variant MALY-DE 22 31727332 31727332 single base substitution T C intron_variant MALY-DE 22 31743457 31743457 single base substitution A T upstream_gene_variant MALY-DE 22 31745545 31745545 insertion of <=200bp - T upstream_gene_variant MELA-AU 22 31717676 31717676 single base substitution C T downstream_gene_variant MELA-AU 22 31717679 31717679 single base substitution C G downstream_gene_variant MELA-AU 22 31719340 31719340 single base substitution G A downstream_gene_variant MELA-AU 22 31721187 31721187 single base substitution T C downstream_gene_variant MELA-AU 22 31721782 31721782 single base substitution G A downstream_gene_variant MELA-AU 22 31724417 31724417 single base substitution G A intron_variant MELA-AU 22 31724751 31724751 single base substitution T A intron_variant MELA-AU 22 31724846 31724846 single base substitution C T intron_variant MELA-AU 22 31724846 31724846 single base substitution C T splice_acceptor_variant MELA-AU 22 31724846 31724846 single base substitution C T synonymous_variant Q524Q 1572G>A MELA-AU 22 31724978 31724978 single base substitution C T intron_variant MELA-AU 22 31725291 31725291 single base substitution G A intron_variant MELA-AU 22 31725391 31725391 single base substitution G A intron_variant MELA-AU 22 31725516 31725516 single base substitution G A intron_variant MELA-AU 22 31726169 31726169 single base substitution C T intron_variant MELA-AU 22 31728051 31728051 single base substitution C G downstream_gene_variant MELA-AU 22 31728051 31728051 single base substitution C G intron_variant MELA-AU 22 31728532 31728532 single base substitution T C downstream_gene_variant MELA-AU 22 31728532 31728532 single base substitution T C intron_variant MELA-AU 22 31729115 31729115 single base substitution G A downstream_gene_variant MELA-AU 22 31729115 31729115 single base substitution G A intron_variant MELA-AU 22 31729121 31729122 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 31729121 31729122 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 31729196 31729196 single base substitution A G downstream_gene_variant MELA-AU 22 31729196 31729196 single base substitution A G intron_variant MELA-AU 22 31729629 31729630 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 31729629 31729630 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 31729731 31729731 single base substitution G A downstream_gene_variant MELA-AU 22 31729731 31729731 single base substitution G A intron_variant MELA-AU 22 31730146 31730146 single base substitution G A downstream_gene_variant MELA-AU 22 31730146 31730146 single base substitution G A intron_variant MELA-AU 22 31730360 31730360 single base substitution G A downstream_gene_variant MELA-AU 22 31730360 31730360 single base substitution G A intron_variant MELA-AU 22 31730806 31730806 single base substitution A G downstream_gene_variant MELA-AU 22 31730806 31730806 single base substitution A G intron_variant MELA-AU 22 31731970 31731970 single base substitution C T downstream_gene_variant MELA-AU 22 31731970 31731970 single base substitution C T intron_variant MELA-AU 22 31731990 31731990 single base substitution G A downstream_gene_variant MELA-AU 22 31731990 31731990 single base substitution G A intron_variant MELA-AU 22 31733299 31733299 single base substitution G A downstream_gene_variant MELA-AU 22 31733299 31733299 single base substitution G A intron_variant MELA-AU 22 31733830 31733830 single base substitution G A downstream_gene_variant MELA-AU 22 31733830 31733830 single base substitution G A intron_variant MELA-AU 22 31733857 31733857 single base substitution G A downstream_gene_variant MELA-AU 22 31733857 31733857 single base substitution G A intron_variant MELA-AU 22 31734232 31734232 insertion of <=200bp - GCC downstream_gene_variant MELA-AU 22 31734232 31734232 insertion of <=200bp - GCC intron_variant MELA-AU 22 31735635 31735635 single base substitution G A downstream_gene_variant MELA-AU 22 31735635 31735635 single base substitution G A intron_variant MELA-AU 22 31736385 31736385 single base substitution C T downstream_gene_variant MELA-AU 22 31736385 31736385 single base substitution C T intron_variant MELA-AU 22 31736523 31736523 single base substitution G A downstream_gene_variant MELA-AU 22 31736523 31736523 single base substitution G A intron_variant MELA-AU 22 31738165 31738165 single base substitution G A intron_variant MELA-AU 22 31738672 31738672 single base substitution C T intron_variant MELA-AU 22 31739457 31739457 single base substitution G A exon_variant MELA-AU 22 31739457 31739457 single base substitution G A intron_variant MELA-AU 22 31739457 31739457 single base substitution G A upstream_gene_variant MELA-AU 22 31740296 31740297 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 31740296 31740297 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 31740451 31740451 single base substitution C T missense_variant E380K 1138G>A MELA-AU 22 31740451 31740451 single base substitution C T upstream_gene_variant MELA-AU 22 31740655 31740655 single base substitution C T missense_variant A312T 934G>A MELA-AU 22 31740655 31740655 single base substitution C T upstream_gene_variant MELA-AU 22 31740715 31740715 single base substitution G A missense_variant L292F 874C>T MELA-AU 22 31740715 31740715 single base substitution G A upstream_gene_variant MELA-AU 22 31743241 31743241 single base substitution C T upstream_gene_variant MELA-AU 22 31743373 31743376 deletion of <=200bp GGGG - upstream_gene_variant MELA-AU 22 31744125 31744125 single base substitution T A upstream_gene_variant MELA-AU 22 31744187 31744187 single base substitution G A upstream_gene_variant MELA-AU 22 31745580 31745580 single base substitution C T upstream_gene_variant MELA-AU 22 31745670 31745670 single base substitution C T upstream_gene_variant MELA-AU 22 31745779 31745779 single base substitution C T upstream_gene_variant MELA-AU 22 31746477 31746477 single base substitution T C upstream_gene_variant MELA-AU 22 31746535 31746535 single base substitution T A upstream_gene_variant MELA-AU 22 31746635 31746635 single base substitution G A upstream_gene_variant MELA-AU 22 31747157 31747157 single base substitution C T upstream_gene_variant ORCA-IN 22 31729484 31729484 deletion of <=200bp G - downstream_gene_variant ORCA-IN 22 31729484 31729484 deletion of <=200bp G - intron_variant ORCA-IN 22 31737555 31737555 single base substitution T C exon_variant ORCA-IN 22 31737555 31737555 single base substitution T C intron_variant ORCA-IN 22 31737555 31737555 single base substitution T C missense_variant T484A 1450A>G ORCA-IN 22 31740728 31740728 single base substitution C A missense_variant R287S 861G>T ORCA-IN 22 31740728 31740728 single base substitution C A upstream_gene_variant ORCA-IN 22 31741376 31741376 single base substitution G T missense_variant S71R 213C>A ORCA-IN 22 31741376 31741376 single base substitution G T upstream_gene_variant ORCA-IN 22 31741489 31741489 single base substitution G A missense_variant R34C 100C>T ORCA-IN 22 31741489 31741489 single base substitution G A upstream_gene_variant OV-AU 22 31717696 31717696 single base substitution T C downstream_gene_variant OV-AU 22 31730366 31730366 single base substitution T A downstream_gene_variant OV-AU 22 31730366 31730366 single base substitution T A intron_variant OV-AU 22 31739040 31739040 single base substitution T A exon_variant OV-AU 22 31739040 31739040 single base substitution T A intron_variant OV-AU 22 31741821 31741821 single base substitution C A 5_prime_UTR_variant OV-AU 22 31741821 31741821 single base substitution C A upstream_gene_variant OV-AU 22 31746742 31746742 single base substitution G C upstream_gene_variant OV-US 22 31731753 31731753 single base substitution G A downstream_gene_variant OV-US 22 31731753 31731753 single base substitution G A exon_variant OV-US 22 31731753 31731753 single base substitution G A missense_variant R478W 1432C>T PACA-AU 22 31721155 31721155 single base substitution T A downstream_gene_variant PACA-AU 22 31722982 31722982 single base substitution C T 3_prime_UTR_variant PACA-AU 22 31722982 31722982 single base substitution C T missense_variant M607I 1821G>A PACA-AU 22 31722982 31722982 single base substitution C T missense_variant M653I 1959G>A PACA-AU 22 31729316 31729316 single base substitution A G downstream_gene_variant PACA-AU 22 31729316 31729316 single base substitution A G intron_variant PACA-AU 22 31735268 31735268 deletion of <=200bp A - downstream_gene_variant PACA-AU 22 31735268 31735268 deletion of <=200bp A - intron_variant PACA-AU 22 31737763 31737763 single base substitution C A intron_variant PACA-AU 22 31740066 31740066 single base substitution T A intron_variant PACA-AU 22 31740066 31740066 single base substitution T A upstream_gene_variant PACA-AU 22 31741895 31741895 single base substitution G A 5_prime_UTR_variant PACA-AU 22 31741895 31741895 single base substitution G A upstream_gene_variant PACA-AU 22 31743306 31743306 single base substitution T G upstream_gene_variant PACA-AU 22 31745408 31745408 single base substitution C G upstream_gene_variant PACA-CA 22 31716890 31716890 single base substitution C T downstream_gene_variant PACA-CA 22 31719102 31719102 single base substitution G A downstream_gene_variant PACA-CA 22 31724863 31724863 single base substitution C T intron_variant PACA-CA 22 31724863 31724863 single base substitution C T missense_variant G519S 1555G>A PACA-CA 22 31725041 31725041 single base substitution G C intron_variant PACA-CA 22 31725603 31725603 single base substitution T C intron_variant PACA-CA 22 31725798 31725798 single base substitution G A intron_variant PACA-CA 22 31727735 31727735 single base substitution C T downstream_gene_variant PACA-CA 22 31727735 31727735 single base substitution C T intron_variant PACA-CA 22 31740980 31740980 single base substitution G A synonymous_variant A203A 609C>T PACA-CA 22 31740980 31740980 single base substitution G A upstream_gene_variant PAEN-AU 22 31736325 31736325 single base substitution G A downstream_gene_variant PAEN-AU 22 31736325 31736325 single base substitution G A intron_variant PBCA-DE 22 31722935 31722935 single base substitution G A 3_prime_UTR_variant PBCA-DE 22 31722935 31722935 single base substitution G A missense_variant A623V 1868C>T PBCA-DE 22 31722935 31722935 single base substitution G A missense_variant A669V 2006C>T PBCA-DE 22 31726479 31726479 single base substitution C T downstream_gene_variant PBCA-DE 22 31726479 31726479 single base substitution C T intron_variant PBCA-DE 22 31727774 31727774 single base substitution G T downstream_gene_variant PBCA-DE 22 31727774 31727774 single base substitution G T intron_variant PBCA-DE 22 31729484 31729484 single base substitution G T downstream_gene_variant PBCA-DE 22 31729484 31729484 single base substitution G T intron_variant PBCA-DE 22 31746614 31746614 single base substitution G C upstream_gene_variant PRAD-CA 22 31717253 31717253 single base substitution G A downstream_gene_variant PRAD-UK 22 31720866 31720866 single base substitution A T downstream_gene_variant PRAD-UK 22 31734730 31734730 single base substitution C G downstream_gene_variant PRAD-UK 22 31734730 31734730 single base substitution C G intron_variant PRAD-US 22 31723224 31723224 single base substitution C T 3_prime_UTR_variant PRAD-US 22 31723224 31723224 single base substitution C T missense_variant D527N 1579G>A PRAD-US 22 31723224 31723224 single base substitution C T missense_variant D573N 1717G>A RECA-EU 22 31730855 31730855 single base substitution C G downstream_gene_variant RECA-EU 22 31730855 31730855 single base substitution C G intron_variant RECA-EU 22 31736881 31736881 single base substitution G A 3_prime_UTR_variant RECA-EU 22 31736881 31736881 single base substitution G A exon_variant RECA-EU 22 31736881 31736881 single base substitution G A intron_variant RECA-EU 22 31741732 31741732 single base substitution G T 5_prime_UTR_variant RECA-EU 22 31741732 31741732 single base substitution G T upstream_gene_variant SKCA-BR 22 31721209 31721209 single base substitution C T downstream_gene_variant SKCA-BR 22 31722408 31722408 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 31726281 31726285 deletion of <=200bp TAAAG - intron_variant SKCA-BR 22 31736024 31736024 single base substitution C A downstream_gene_variant SKCA-BR 22 31736024 31736024 single base substitution C A intron_variant SKCA-BR 22 31738646 31738646 single base substitution A C intron_variant SKCA-BR 22 31741665 31741665 single base substitution G A 5_prime_UTR_variant SKCA-BR 22 31741665 31741665 single base substitution G A upstream_gene_variant SKCA-BR 22 31742845 31742845 single base substitution T G upstream_gene_variant SKCA-BR 22 31744072 31744072 single base substitution G A upstream_gene_variant SKCA-BR 22 31745983 31745983 single base substitution T G upstream_gene_variant SKCM-US 22 31722980 31722980 single base substitution G A 3_prime_UTR_variant SKCM-US 22 31722980 31722980 single base substitution G A missense_variant S608F 1823C>T SKCM-US 22 31722980 31722980 single base substitution G A missense_variant S654F 1961C>T SKCM-US 22 31740335 31740335 single base substitution A G synonymous_variant C418C 1254T>C SKCM-US 22 31740335 31740335 single base substitution A G upstream_gene_variant SKCM-US 22 31740408 31740408 single base substitution C T missense_variant R394K 1181G>A SKCM-US 22 31740408 31740408 single base substitution C T upstream_gene_variant SKCM-US 22 31740815 31740815 single base substitution G A synonymous_variant A258A 774C>T SKCM-US 22 31740815 31740815 single base substitution G A upstream_gene_variant SKCM-US 22 31740842 31740842 single base substitution G A synonymous_variant S249S 747C>T SKCM-US 22 31740842 31740842 single base substitution G A upstream_gene_variant SKCM-US 22 31741063 31741063 single base substitution G A missense_variant R176C 526C>T SKCM-US 22 31741063 31741063 single base substitution G A upstream_gene_variant SKCM-US 22 31741169 31741169 single base substitution G A synonymous_variant A140A 420C>T SKCM-US 22 31741169 31741169 single base substitution G A upstream_gene_variant STAD-US 22 31723045 31723045 single base substitution G A 3_prime_UTR_variant STAD-US 22 31723045 31723045 single base substitution G A synonymous_variant L586L 1758C>T STAD-US 22 31723045 31723045 single base substitution G A synonymous_variant L632L 1896C>T STAD-US 22 31723054 31723054 single base substitution G A 3_prime_UTR_variant STAD-US 22 31723054 31723054 single base substitution G A synonymous_variant V583V 1749C>T STAD-US 22 31723054 31723054 single base substitution G A synonymous_variant V629V 1887C>T STAD-US 22 31731813 31731813 single base substitution G A downstream_gene_variant STAD-US 22 31731813 31731813 single base substitution G A exon_variant STAD-US 22 31731813 31731813 single base substitution G A missense_variant R458C 1372C>T STAD-US 22 31741294 31741294 single base substitution C G missense_variant G99R 295G>C STAD-US 22 31741294 31741294 single base substitution C G upstream_gene_variant STAD-US 22 31741335 31741335 single base substitution G A missense_variant A85V 254C>T STAD-US 22 31741335 31741335 single base substitution G A upstream_gene_variant STAD-US 22 31741404 31741404 single base substitution C T missense_variant C62Y 185G>A STAD-US 22 31741404 31741404 single base substitution C T upstream_gene_variant STAD-US 22 31741479 31741479 single base substitution C T missense_variant G37D 110G>A STAD-US 22 31741479 31741479 single base substitution C T upstream_gene_variant THCA-SA 22 31741067 31741067 single base substitution G A synonymous_variant L174L 522C>T THCA-SA 22 31741067 31741067 single base substitution G A upstream_gene_variant UCEC-US 22 31723094 31723094 single base substitution G C 3_prime_UTR_variant UCEC-US 22 31723094 31723094 single base substitution G C missense_variant S570C 1709C>G UCEC-US 22 31723094 31723094 single base substitution G C missense_variant S616C 1847C>G UCEC-US 22 31724799 31724799 single base substitution T C intron_variant UCEC-US 22 31724799 31724799 single base substitution T C missense_variant H540R 1619A>G UCEC-US 22 31724799 31724799 single base substitution T C synonymous_variant P518P 1554A>G UCEC-US 22 31724906 31724906 single base substitution G T intron_variant UCEC-US 22 31724906 31724906 single base substitution G T missense_variant F504L 1512C>A UCEC-US 22 31731705 31731705 single base substitution T C downstream_gene_variant UCEC-US 22 31731705 31731705 single base substitution T C exon_variant UCEC-US 22 31731705 31731705 single base substitution T C missense_variant S494G 1480A>G UCEC-US 22 31731715 31731715 single base substitution G A downstream_gene_variant UCEC-US 22 31731715 31731715 single base substitution G A exon_variant UCEC-US 22 31731715 31731715 single base substitution G A synonymous_variant S490S 1470C>T UCEC-US 22 31740356 31740356 single base substitution C T synonymous_variant K411K 1233G>A UCEC-US 22 31740356 31740356 single base substitution C T upstream_gene_variant UCEC-US 22 31740598 31740598 single base substitution G C missense_variant L331V 991C>G UCEC-US 22 31740598 31740598 single base substitution G C upstream_gene_variant UCEC-US 22 31741246 31741246 single base substitution C A missense_variant G115W 343G>T UCEC-US 22 31741246 31741246 single base substitution C A upstream_gene_variant UCEC-US 22 31741398 31741398 single base substitution T C missense_variant E64G 191A>G UCEC-US 22 31741398 31741398 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand WSU-HN13 COSM4593197 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - S12-11594-TP COSM4991512 c.145G>A p.D49N Substitution - Missense 22:31345458-31345458 - ME100L COSM231448 c.536G>A p.G179E Substitution - Missense 22:31345067-31345067 - BICR_22 COSM4593197 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - EWS834 COSM4582332 c.30C>T p.G10G Substitution - coding silent 22:31345573-31345573 - TCGA-AA-3672-01 COSM267108 c.264G>A p.G88G Substitution - coding silent 22:31345339-31345339 - PTC-70C COSM4156163 c.522C>T p.L174L Substitution - coding silent 22:31345081-31345081 - TCGA-DA-A1HY-06 COSM3553560 c.1961C>T p.S654F Substitution - Missense 22:31326994-31326994 - TCGA-EE-A2MR-06 COSM3553567 c.526C>T p.R176C Substitution - Missense 22:31345077-31345077 - HCC137T COSM1616377 c.1146C>T p.P382P Substitution - coding silent 22:31344457-31344457 - S04-6933-TP COSM4991508 c.1922C>T p.P641L Substitution - Missense 22:31327033-31327033 - CSCC-4-T COSM4450782 c.848delC p.P283fs*4 Deletion - Frameshift 22:31344755-31344755 - TCGA-B0-4841-01 COSM3363614 c.106A>T p.N36Y Substitution - Missense 22:31345497-31345497 - TCGA-AA-3811-01 COSM5109450 c.380T>C p.V127A Substitution - Missense 22:31345223-31345223 - PTC-10C COSM4156163 c.522C>T p.L174L Substitution - coding silent 22:31345081-31345081 - TCGA-39-5028-01 COSM726603 c.794G>A p.R265Q Substitution - Missense 22:31344809-31344809 - TCGA-CW-5580-01 COSM478888 c.1116G>A p.R372R Substitution - coding silent 22:31344487-31344487 - TCGA-Q1-A73O-01 COSM4836107 c.460G>T p.E154* Substitution - Nonsense 22:31345143-31345143 - CSCC-37-T COSM4467403 c.1488C>T p.A496A Substitution - coding silent 22:31341531-31341531 - TCGA-BR-4362-01 COSM4103574 c.110G>A p.G37D Substitution - Missense 22:31345493-31345493 - 16461 COSM339106 c.1806G>T p.E602D Substitution - Missense 22:31327149-31327149 - TCGA-AA-A01T-01 COSM5123711 c.1071T>C p.C357C Substitution - coding silent 22:31344532-31344532 - TCGA-EY-A212-01 COSM1033445 c.991C>G p.L331V Substitution - Missense 22:31344612-31344612 - TCGA-B5-A11E-01 COSM1033443 c.1233G>A p.K411K Substitution - coding silent 22:31344370-31344370 - PD4937a COSM163269 c.1809G>A p.K603K Substitution - coding silent 22:31327146-31327146 - TCGA-H4-A2HQ-01 COSM1308082 c.1336-1G>C p.? Unknown 22:31335864-31335864 - TCGA-24-1436-01 COSM86300 c.1432C>T p.R478W Substitution - Missense 22:31335767-31335767 - 353 COSM3363614 c.106A>T p.N36Y Substitution - Missense 22:31345497-31345497 - HCC22 COSM3708211 c.1087A>C p.I363L Substitution - Missense 22:31344516-31344516 - LN229 COSM2938122 c.1490G>A p.C497Y Substitution - Missense 22:31335709-31335709 - TCGA-AG-A002-01 COSM262746 c.1775T>C p.V592A Substitution - Missense 22:31327180-31327180 - HCT15 COSM2938139 c.948C>T p.V316V Substitution - coding silent 22:31344655-31344655 - TCGA-HU-A4GT-01 COSM4103569 c.295G>C p.G99R Substitution - Missense 22:31345308-31345308 - 707T COSM4386665 c.1129C>A p.H377N Substitution - Missense 22:31344474-31344474 - S02378 COSM5697548 c.1554C>G p.H518Q Substitution - Missense 22:31328878-31328878 - TCGA-FW-A3R5-06 COSM3912652 c.747C>T p.S249S Substitution - coding silent 22:31344856-31344856 - SCMC_RM2_ COSM3681417 c.2055A>C p.E685D Substitution - Missense 22:31326900-31326900 - TCGA-D1-A17U-01 COSM1033448 c.343G>T p.G115W Substitution - Missense 22:31345260-31345260 - S09-2518-TP COSM4991509 c.1822C>T p.P608S Substitution - Missense 22:31327133-31327133 - TCGA-Q1-A73O-01 COSM4836108 c.460G>T p.E154* Substitution - Nonsense 22:31345143-31345143 - 446 COSM4434995 c.386G>A p.R129H Substitution - Missense 22:31345217-31345217 - TCGA-D1-A16D-01 COSM1033450 c.191A>G p.E64G Substitution - Missense 22:31345412-31345412 - LUAD-NYU1051S COSM368822 c.877C>T p.P293S Substitution - Missense 22:31344726-31344726 - TCGA-AA-3966-01 COSM273076 c.2006C>T p.A669V Substitution - Missense 22:31326949-31326949 - TCGA-DK-A1AC-01 COSM1308084 c.1333C>T p.Q445* Substitution - Nonsense 22:31342899-31342899 - 6 COSM1237250 c.1507+2T>C p.? Unknown 22:31335690-31335690 - TCGA-34-2596-01 COSM726608 c.2063G>C p.*688S Nonstop extension 22:31326892-31326892 - C086 COSM3553567 c.526C>T p.R176C Substitution - Missense 22:31345077-31345077 - 446 COSM4434996 c.386G>A p.R129H Substitution - Missense 22:31345217-31345217 - TCGA-D3-A2J7-06 COSM3553560 c.1961C>T p.S654F Substitution - Missense 22:31326994-31326994 - DLD1 COSM2938123 c.1481G>T p.S494I Substitution - Missense 22:31335718-31335718 - TCGA-B5-A0JY-01 COSM1033442 c.1470C>T p.S490S Substitution - coding silent 22:31335729-31335729 - HF-23896 COSM1197684 c.1470C>G p.S490R Substitution - Missense 22:31335729-31335729 - TCGA-FW-A3R5-06 COSM3912653 c.747C>T p.S249S Substitution - coding silent 22:31344856-31344856 - 19M COSM5579240 c.398T>G p.F133C Substitution - Missense 22:31345205-31345205 - T3118 COSM4711319 c.107delA p.N36fs*12 Deletion - Frameshift 22:31345496-31345496 - TCGA-EW-A1OZ-01 COSM1484165 c.1371G>A p.L457L Substitution - coding silent 22:31335828-31335828 - SW1116 COSM2938112 c.1901G>T p.G634V Substitution - Missense 22:31327054-31327054 - TCGA-BR-8591-01 COSM4103570 c.254C>T p.A85V Substitution - Missense 22:31345349-31345349 - CSCC-27-T COSM4481541 c.251C>T p.P84L Substitution - Missense 22:31345352-31345352 - TCGA-39-5028-01 COSM726604 c.794G>A p.R265Q Substitution - Missense 22:31344809-31344809 - TCGA-D1-A17Q-01 COSM1033439 c.1619A>G p.H540R Substitution - Missense 22:31328813-31328813 - SNU-175 COSM2938119 c.1613C>T p.A538V Substitution - Missense 22:31328819-31328819 - BZ38 COSM5759291 c.372C>T p.S124S Substitution - coding silent 22:31345231-31345231 - HCT15 COSM2938123 c.1481G>T p.S494I Substitution - Missense 22:31335718-31335718 - B66 COSM1751814 c.1934C>T p.S645L Substitution - Missense 22:31327021-31327021 - 48T COSM3713674 c.861G>T p.R287S Substitution - Missense 22:31344742-31344742 - YUFIT COSM5393451 c.982_983CC>TT p.P328F Substitution - Missense 22:31344620-31344621 - PDA_015 COSM4998765 c.1889G>A p.R630Q Substitution - Missense 22:31327066-31327066 - TCGA-D5-6931-01 COSM5166730 c.602G>A p.G201D Substitution - Missense 22:31345001-31345001 - HCC22T COSM3708210 c.1087A>C p.I363L Substitution - Missense 22:31344516-31344516 - TCGA-G4-6302-01 COSM3694026 c.254C>G p.A85G Substitution - Missense 22:31345349-31345349 - 2318491 COSM4776592 c.640C>T p.R214W Substitution - Missense 22:31344963-31344963 - TCGA-EE-A2MK-06 COSM3553562 c.1254T>C p.C418C Substitution - coding silent 22:31344349-31344349 - TCGA-BG-A0LX-01 COSM1033441 c.1480A>G p.S494G Substitution - Missense 22:31335719-31335719 - LUAD-F00018 COSM339106 c.1806G>T p.E602D Substitution - Missense 22:31327149-31327149 - TCGA-AA-A01T-01 COSM5123712 c.1071T>C p.C357C Substitution - coding silent 22:31344532-31344532 - TCGA-EE-A29E-06 COSM3553566 c.774C>T p.A258A Substitution - coding silent 22:31344829-31344829 - TCGA-18-3409-01 COSM726607 c.1945C>T p.P649S Substitution - Missense 22:31327010-31327010 - ESO-717 COSM1242621 c.2007G>A p.A669A Substitution - coding silent 22:31326948-31326948 - TCGA-G4-6588-01 COSM1415834 c.533delC p.P178fs*12 Deletion - Frameshift 22:31345070-31345070 - OSCC-GB_00480111 COSM3713674 c.861G>T p.R287S Substitution - Missense 22:31344742-31344742 - PTC-54C COSM4156163 c.522C>T p.L174L Substitution - coding silent 22:31345081-31345081 - TCGA-EE-A29E-06 COSM3553565 c.774C>T p.A258A Substitution - coding silent 22:31344829-31344829 - TCGA-HU-A4GC-01 COSM4103573 c.185G>A p.C62Y Substitution - Missense 22:31345418-31345418 - 6P2-1 COSM3734395 c.1908delG p.D638fs*35 Deletion - Frameshift 22:31327047-31327047 - TCGA-66-2734-01 COSM726601 c.267C>T p.G89G Substitution - coding silent 22:31345336-31345336 - LIM2405 COSM4642629 c.922C>T p.R308W Substitution - Missense 22:31344681-31344681 - S12-22512-TP COSM4991511 c.457C>T p.Q153* Substitution - Nonsense 22:31345146-31345146 - Pat_63_B COSM5859204 c.976C>T p.L326F Substitution - Missense 22:31344627-31344627 - RK195_C01 COSM2938151 c.542C>T p.S181L Substitution - Missense 22:31345061-31345061 - TCGA-CD-8536-01 COSM4103565 c.1896C>T p.L632L Substitution - coding silent 22:31327059-31327059 - TCGA-66-2734-01 COSM726602 c.267C>T p.G89G Substitution - coding silent 22:31345336-31345336 - HCC22 COSM3708210 c.1087A>C p.I363L Substitution - Missense 22:31344516-31344516 - Patient3_Tu COSM1235829 c.822C>G p.N274K Substitution - Missense 22:31344781-31344781 - CAL33 COSM4593198 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - TCGA-B0-4841-01 COSM3363613 c.106A>T p.N36Y Substitution - Missense 22:31345497-31345497 - TCGA-EY-A212-01 COSM1033438 c.1847C>G p.S616C Substitution - Missense 22:31327108-31327108 - TCGA-C5-A1MH-01 COSM4821103 c.1016C>G p.S339C Substitution - Missense 22:31344587-31344587 - T55 COSM4711321 c.1A>G p.M1V Substitution - Missense 22:31345602-31345602 - TCGA-D5-6931-01 COSM5166729 c.602G>A p.G201D Substitution - Missense 22:31345001-31345001 - pfg181T COSM4752157 c.323C>T p.T108I Substitution - Missense 22:31345280-31345280 - T3152 COSM4711317 c.1814A>G p.Y605C Substitution - Missense 22:31327141-31327141 - HCT8 COSM2938123 c.1481G>T p.S494I Substitution - Missense 22:31335718-31335718 - B66-Tumor COSM1751814 c.1934C>T p.S645L Substitution - Missense 22:31327021-31327021 - OSCC-GB_01090111 COSM4886474 c.213C>A p.S71R Substitution - Missense 22:31345390-31345390 - BN24 COSM1616379 c.793C>T p.R265* Substitution - Nonsense 22:31344810-31344810 - S12-11594-TP COSM4991513 c.145G>A p.D49N Substitution - Missense 22:31345458-31345458 - TCGA-J9-A52C-01 COSM4877378 c.1717G>A p.D573N Substitution - Missense 22:31327238-31327238 - TCGA-AA-A010-01 COSM283725 c.1430C>T p.S477L Substitution - Missense 22:31341589-31341589 - TCGA-C5-A1BF-01 COSM4836828 c.307G>C p.E103Q Substitution - Missense 22:31345296-31345296 - BZ38 COSM5759292 c.372C>T p.S124S Substitution - coding silent 22:31345231-31345231 - WSU-HN12 COSM4593197 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - PD4844a COSM163267 c.430C>G p.L144V Substitution - Missense 22:31345173-31345173 - DN12052 COSM5962210 c.192G>A p.E64E Substitution - coding silent 22:31345411-31345411 - DN12052 COSM5962209 c.192G>A p.E64E Substitution - coding silent 22:31345411-31345411 - 1946219 COSM1197684 c.1470C>G p.S490R Substitution - Missense 22:31335729-31335729 - 19M COSM5579239 c.398T>G p.F133C Substitution - Missense 22:31345205-31345205 - pfg181T COSM4752156 c.323C>T p.T108I Substitution - Missense 22:31345280-31345280 - TCGA-AU-6004-01 COSM1415832 c.883G>T p.G295C Substitution - Missense 22:31344720-31344720 - ORL-48 COSM4593197 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - 2318491 COSM4776593 c.640C>T p.R214W Substitution - Missense 22:31344963-31344963 - TCGA-AU-6004-01 COSM1415833 c.883G>T p.G295C Substitution - Missense 22:31344720-31344720 - YUFIT COSM5393450 c.982_983CC>TT p.P328F Substitution - Missense 22:31344620-31344621 - HCC006T COSM5803455 c.1503C>A p.G501G Substitution - coding silent 22:31341516-31341516 - T55 COSM4711322 c.1A>G p.M1V Substitution - Missense 22:31345602-31345602 - 19 COSM5748245 c.1969G>A p.E657K Substitution - Missense 22:31326986-31326986 - TCGA-DU-5853-01 COSM3972922 c.851G>A p.G284E Substitution - Missense 22:31344752-31344752 - TCGA-EE-A2MK-06 COSM3553561 c.1254T>C p.C418C Substitution - coding silent 22:31344349-31344349 - CSCC-31-T COSM4527104 c.1440G>C p.S480S Substitution - coding silent 22:31341579-31341579 - cSCCP8 COSM140885 c.1235C>T p.P412L Substitution - Missense 22:31344368-31344368 - RK164_C01 COSM3701743 c.1198T>A p.Y400N Substitution - Missense 22:31344405-31344405 - TCGA-D1-A16D-01 COSM1033449 c.191A>G p.E64G Substitution - Missense 22:31345412-31345412 - ESCC_BICR_042T COSM5443778 c.1387G>A p.D463N Substitution - Missense 22:31341632-31341632 - TCGA-EE-A2GI-06 COSM3553564 c.1181G>A p.R394K Substitution - Missense 22:31344422-31344422 - WSU-HN12 COSM4593198 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - TCGA-C5-A1BF-01 COSM4836827 c.307G>C p.E103Q Substitution - Missense 22:31345296-31345296 - TCGA-EE-A2MR-06 COSM3553568 c.526C>T p.R176C Substitution - Missense 22:31345077-31345077 - Pat_40_A COSM5859206 c.68G>A p.S23N Substitution - Missense 22:31345535-31345535 - HCC22T COSM3708211 c.1087A>C p.I363L Substitution - Missense 22:31344516-31344516 - S12-22512-TP COSM4991510 c.457C>T p.Q153* Substitution - Nonsense 22:31345146-31345146 - TCGA-G4-6302-01 COSM3694027 c.254C>G p.A85G Substitution - Missense 22:31345349-31345349 - OSCC-GB_01090111 COSM4886473 c.213C>A p.S71R Substitution - Missense 22:31345390-31345390 - RW2982 COSM4649682 c.1764C>T p.C588C Substitution - coding silent 22:31327191-31327191 - TCGA-C5-A1MH-01 COSM4821104 c.1016C>G p.S339C Substitution - Missense 22:31344587-31344587 - TCGA-AA-3672-01 COSM267107 c.264G>A p.G88G Substitution - coding silent 22:31345339-31345339 - TCGA-BR-4362-01 COSM4103575 c.110G>A p.G37D Substitution - Missense 22:31345493-31345493 - SCC-9 COSM4593197 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - LIM2405 COSM4642630 c.922C>T p.R308W Substitution - Missense 22:31344681-31344681 - TCGA-AA-3492-01 COSM1415837 c.327C>T p.I109I Substitution - coding silent 22:31345276-31345276 - ORL-48 COSM4593198 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - TCGA-HJ-7597-01 COSM4103566 c.1887C>T p.V629V Substitution - coding silent 22:31327068-31327068 - HCT15 COSM2938138 c.948C>T p.V316V Substitution - coding silent 22:31344655-31344655 - TCGA-DK-A1AC-01 COSM1308083 c.1333C>T p.Q445* Substitution - Nonsense 22:31342899-31342899 - Pat_40_A COSM5859207 c.68G>A p.S23N Substitution - Missense 22:31345535-31345535 - CAL33 COSM4593197 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - PCSI_0083_Pa_P_526 COSM3379315 c.609C>T p.A203A Substitution - coding silent 22:31344994-31344994 - TCGA-BR-8361-01 COSM4103567 c.1372C>T p.R458C Substitution - Missense 22:31335827-31335827 - BN24 COSM1616380 c.793C>T p.R265* Substitution - Nonsense 22:31344810-31344810 - TCGA-F4-6703-01 COSM5172794 c.1373G>A p.R458H Substitution - Missense 22:31335826-31335826 - OSCC-GB_00930111 COSM4888331 c.100C>T p.R34C Substitution - Missense 22:31345503-31345503 - TCGA-CW-5580-01 COSM478889 c.1116G>A p.R372R Substitution - coding silent 22:31344487-31344487 - Pat_41_B COSM5859201 c.1745C>T p.A582V Substitution - Missense 22:31327210-31327210 - PCSI_0083_Pa_P COSM3379314 c.609C>T p.A203A Substitution - coding silent 22:31344994-31344994 - SNUH_G31_S1 COSM3681417 c.2055A>C p.E685D Substitution - Missense 22:31326900-31326900 - HCC137T COSM1616378 c.1146C>T p.P382P Substitution - coding silent 22:31344457-31344457 - TCGA-G4-6588-01 COSM1415835 c.533delC p.P178fs*12 Deletion - Frameshift 22:31345070-31345070 - TCGA-BR-8591-01 COSM4103571 c.254C>T p.A85V Substitution - Missense 22:31345349-31345349 - SCC-9 COSM4593198 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - CSCC-7-T COSM4465323 c.1378C>A p.L460I Substitution - Missense 22:31341641-31341641 - LP6007594 COSM4409945 c.724C>T p.L242L Substitution - coding silent 22:31344879-31344879 - TCGA-EY-A212-01 COSM1033446 c.991C>G p.L331V Substitution - Missense 22:31344612-31344612 - TCGA-FS-A1ZR-06 COSM3553570 c.420C>T p.A140A Substitution - coding silent 22:31345183-31345183 - Pat_73_A COSM5859203 c.1049G>A p.R350Q Substitution - Missense 22:31344554-31344554 - 353 COSM3363613 c.106A>T p.N36Y Substitution - Missense 22:31345497-31345497 - NOKSI COSM4593198 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - TCGA-HU-A4GT-01 COSM4103568 c.295G>C p.G99R Substitution - Missense 22:31345308-31345308 - OSCC-GB_01340111 COSM5954814 c.1450A>G p.T484A Substitution - Missense 22:31341569-31341569 - RK195_C01 COSM2938150 c.542C>T p.S181L Substitution - Missense 22:31345061-31345061 - TCGA-EE-A2GI-06 COSM3553563 c.1181G>A p.R394K Substitution - Missense 22:31344422-31344422 - T3091 COSM4711318 c.1476_1477insA p.S493fs*6 Insertion - Frameshift 22:31341542-31341543 - TCGA-B5-A11E-01 COSM1033444 c.1233G>A p.K411K Substitution - coding silent 22:31344370-31344370 - SC_9037 COSM5566435 c.168C>G p.R56R Substitution - coding silent 22:31345435-31345435 - T55 COSM1415834 c.533delC p.P178fs*12 Deletion - Frameshift 22:31345070-31345070 - NOKSI COSM4593197 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - TCGA-HU-A4GC-01 COSM4103572 c.185G>A p.C62Y Substitution - Missense 22:31345418-31345418 - TCGA-AA-3811-01 COSM5109451 c.380T>C p.V127A Substitution - Missense 22:31345223-31345223 - LP6007594 COSM4409944 c.724C>T p.L242L Substitution - coding silent 22:31344879-31344879 - ME100L COSM231447 c.536G>A p.G179E Substitution - Missense 22:31345067-31345067 - Patient3_Tu COSM1235830 c.822C>G p.N274K Substitution - Missense 22:31344781-31344781 - PCSI_0083_Pa_X COSM3379315 c.609C>T p.A203A Substitution - coding silent 22:31344994-31344994 - TCGA-D1-A17U-01 COSM1033447 c.343G>T p.G115W Substitution - Missense 22:31345260-31345260 - BN24T COSM1616380 c.793C>T p.R265* Substitution - Nonsense 22:31344810-31344810 - T55 COSM1415835 c.533delC p.P178fs*12 Deletion - Frameshift 22:31345070-31345070 - EWS834 COSM4582331 c.30C>T p.G10G Substitution - coding silent 22:31345573-31345573 - PCSI_0083_Pa_P COSM3379315 c.609C>T p.A203A Substitution - coding silent 22:31344994-31344994 - LUAD-NYU1051S COSM368821 c.877C>T p.P293S Substitution - Missense 22:31344726-31344726 - TCGA-BS-A0UF-01 COSM1033440 c.1512C>A p.F504L Substitution - Missense 22:31328920-31328920 - PTC-70C COSM4156164 c.522C>T p.L174L Substitution - coding silent 22:31345081-31345081 - PD13622a COSM5795580 c.1545G>A p.P515P Substitution - coding silent 22:31341474-31341474 - C086 COSM3553568 c.526C>T p.R176C Substitution - Missense 22:31345077-31345077 - Pat_63_B COSM5859205 c.976C>T p.L326F Substitution - Missense 22:31344627-31344627 - TCGA-AA-3492-01 COSM1415836 c.327C>T p.I109I Substitution - coding silent 22:31345276-31345276 - WSU-HN13 COSM4593198 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - cSCCP8 COSM140886 c.1235C>T p.P412L Substitution - Missense 22:31344368-31344368 - MOLT-4 COSM273076 c.2006C>T p.A669V Substitution - Missense 22:31326949-31326949 - HCC137 COSM1616377 c.1146C>T p.P382P Substitution - coding silent 22:31344457-31344457 - 707T COSM4386664 c.1129C>A p.H377N Substitution - Missense 22:31344474-31344474 - PCSI_0083_Pa_X COSM3379314 c.609C>T p.A203A Substitution - coding silent 22:31344994-31344994 - SC_9037 COSM5566436 c.168C>G p.R56R Substitution - coding silent 22:31345435-31345435 - HCC137 COSM1616378 c.1146C>T p.P382P Substitution - coding silent 22:31344457-31344457 - Pat_73_A COSM5859202 c.1049G>A p.R350Q Substitution - Missense 22:31344554-31344554 - TCGA-EJ-7123-01 COSM3673260 c.533C>A p.P178H Substitution - Missense 22:31345070-31345070 - PTC-10C COSM4156164 c.522C>T p.L174L Substitution - coding silent 22:31345081-31345081 - SNU-C4 COSM1033442 c.1470C>T p.S490S Substitution - coding silent 22:31335729-31335729 - TCGA-33-4566-01 COSM726605 c.1521C>G p.A507A Substitution - coding silent 22:31328911-31328911 - TCGA-FS-A1ZR-06 COSM3553569 c.420C>T p.A140A Substitution - coding silent 22:31345183-31345183 - BN24T COSM1616379 c.793C>T p.R265* Substitution - Nonsense 22:31344810-31344810 - CSCC-27-T COSM4481542 c.251C>T p.P84L Substitution - Missense 22:31345352-31345352 - TCGA-CW-5581-01 COSM478887 c.1450G>A p.D484N Substitution - Missense 22:31335749-31335749 - PTC-54C COSM4156164 c.522C>T p.L174L Substitution - coding silent 22:31345081-31345081 - CSCC-4-T COSM4450781 c.848delC p.P283fs*4 Deletion - Frameshift 22:31344755-31344755 - T3118 COSM4711320 c.107delA p.N36fs*12 Deletion - Frameshift 22:31345496-31345496 - YUJUBE COSM5393449 c.1434C>T p.S478S Substitution - coding silent 22:31341585-31341585 - OSCC-GB_00480111 COSM3713675 c.861G>T p.R287S Substitution - Missense 22:31344742-31344742 - 8016470 COSM3390178 c.1959G>A p.M653I Substitution - Missense 22:31326996-31326996 - RK164_C01 COSM3701742 c.1198T>A p.Y400N Substitution - Missense 22:31344405-31344405 - PCSI_0083_Pa_P_526 COSM3379314 c.609C>T p.A203A Substitution - coding silent 22:31344994-31344994 - TCGA-DK-A3X1-01 COSM3800146 c.1961C>A p.S654Y Substitution - Missense 22:31326994-31326994 - TCGA-EJ-7123-01 COSM3673259 c.533C>A p.P178H Substitution - Missense 22:31345070-31345070 - TCGA-DU-5853-01 COSM3972921 c.851G>A p.G284E Substitution - Missense 22:31344752-31344752 - PD4844a COSM163268 c.430C>G p.L144V Substitution - Missense 22:31345173-31345173 - BICR_22 COSM4593198 c.115C>G p.R39G Substitution - Missense 22:31345488-31345488 - 48T COSM3713675 c.861G>T p.R287S Substitution - Missense 22:31344742-31344742 - OSCC-GB_00930111 COSM4888330 c.100C>T p.R34C Substitution - Missense 22:31345503-31345503 - SH-8559 COSM5020761 c.1569C>T p.T523T Substitution - coding silent 22:31341450-31341450 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.731398 22q12.2 605165

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V355G c.1064T>G 22 31740525 COREAD A G Synonymous p.C418C c.1254T>C 22 31740335 CM A T Missense p.F142I c.424T>A 22 31741165 LUAD A T Missense p.I338N c.1013T>A 22 31740576 CM C A Missense p.E602D c.1806G>T 22 31723135 NSCLC C A Missense p.G115W c.343G>T 22 31741246 UCEC CC TT IntronicBlockSubstitution . c.1335+1654_1335+1655delinsAA 22 31737228 CM C G 3-UTRSNV . c.2061+2G>C 22 31722878 LUSC C G Missense p.E657Q c.1969G>C 22 31722972 LUAD C G SpliceAcceptorSNV . c.1336-1G>C 22 31731850 BLCA C T Missense p.G179E c.536G>A 22 31741053 CM C T Missense p.G284E c.851G>A 22 31740738 LGG C T Missense p.R265Q c.794G>A 22 31740795 LUSC C T Missense p.R394K c.1181G>A 22 31740408 CM C T Missense p.S257N c.770G>A 22 31740819 CM C T Synonymous p.K603K c.1809G>A 22 31723132 BRCA C T Synonymous p.L457L c.1371G>A 22 31731814 BRCA G A Missense p.L568F c.1702C>T 22 31723239 LUAD G A Missense p.P641L c.1922C>T 22 31723019 CM G A Missense p.R478W c.1432C>T 22 31731753 OV G A Missense p.S654F c.1961C>T 22 31722980 CM G A Synonymous p.A140A c.420C>T 22 31741169 CM G A Synonymous p.D325D c.975C>T 22 31740614 CM G A Synonymous p.F251F c.753C>T 22 31740836 HNSC G A Synonymous p.F647F c.1941C>T 22 31723000 CM G A Synonymous p.G75G c.225C>T 22 31741364 CM G A Synonymous p.G89G c.267C>T 22 31741322 LUSC G A Synonymous p.L144L c.430C>T 22 31741159 STAD G A Synonymous p.S199S c.597C>T 22 31740992 LUAD G C Missense p.L144V c.430C>G 22 31741159 BRCA G C Missense p.L331V c.991C>G 22 31740598 UCEC G C Missense p.S616C c.1847C>G 22 31723094 UCEC G T 5-UTRSNV . c.1-288C>A 22 31741876 CLL T A Missense p.N36Y c.106A>T 22 31741483 RCCC T A Missense p.N652Y c.1954A>T 22 31722987 LUAD T C Missense p.E64G c.191A>G 22 31741398 UCEC T C Missense p.S494G c.1480A>G 22 31731705 UCEC T G 3-UTRSNV . c.2061+1077A>C 22 31721803 HC