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 46627995 46627995 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr22:46627995A>G c.1018A>G c.(1018-1020)Act>Gct p.T340A BLCA 22 46611198 46611198 + Missense_Mutation SNP C C T TCGA-FD-A5BY-01A-31D-A289-08 TCGA-FD-A5BY-10A-01D-A289-08 g.chr22:46611198C>T c.337C>T c.(337-339)Cat>Tat p.H113Y BLCA 22 46614186 46614186 + Silent SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr22:46614186C>G c.396C>G c.(394-396)ctC>ctG p.L132L BLCA 22 46627868 46627868 + Silent SNP C C T TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr22:46627868C>T c.891C>T c.(889-891)ttC>ttT p.F297F BLCA 22 46628123 46628123 + Silent SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr22:46628123C>A c.1146C>A c.(1144-1146)atC>atA p.I382I BRCA 22 46615733 46615733 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr22:46615733G>T c.533G>T c.(532-534)aGa>aTa p.R178I BRCA 22 46627967 46627967 + Missense_Mutation SNP G G T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 g.chr22:46627967G>T c.990G>T c.(988-990)atG>atT p.M330I BRCA 22 46628068 46628068 + Missense_Mutation SNP A A C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr22:46628068A>C c.1091A>C c.(1090-1092)aAg>aCg p.K364T BRCA 22 46631235 46631237 + In_Frame_Del DEL GCT GCT - TCGA-A1-A0SH-01A-11D-A099-09 TCGA-A1-A0SH-10A-03D-A099-09 g.chr22:46631235_46631237delGCT c.1365_1367delGCT c.(1363-1368)gcgctg>gcg p.L456del CESC 22 46631032 46631032 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr22:46631032C>T c.1162C>T c.(1162-1164)Cgt>Tgt p.R388C CHOL 22 46594338 46594338 + Nonsense_Mutation SNP G G T TCGA-W6-AA0S-01A-11D-A417-09 TCGA-W6-AA0S-10A-01D-A41A-09 g.chr22:46594338G>T c.58G>T c.(58-60)Gag>Tag p.E20* COAD 22 46594486 46594486 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr22:46594486C>T c.206C>T c.(205-207)aCg>aTg p.T69M COAD 22 46611089 46611089 + Silent SNP G G A TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr22:46611089G>A c.228G>A c.(226-228)tcG>tcA p.S76S COAD 22 46611129 46611129 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr22:46611129G>A c.268G>A c.(268-270)Gtg>Atg p.V90M COAD 22 46614173 46614173 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:46614173G>A c.383G>A c.(382-384)cGa>cAa p.R128Q COAD 22 46615783 46615784 + Frame_Shift_Del DEL AT AT - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr22:46615783_46615784delAT c.583_584delAT c.(583-585)atafs p.I195fs COAD 22 46628049 46628049 + Missense_Mutation SNP A A G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr22:46628049A>G c.1072A>G c.(1072-1074)Aag>Gag p.K358E COAD 22 46628050 46628050 + Missense_Mutation SNP A A G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr22:46628050A>G c.1073A>G c.(1072-1074)aAg>aGg p.K358R COAD 22 46628121 46628121 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr22:46628121A>G c.1144A>G c.(1144-1146)Atc>Gtc p.I382V COADREAD 22 46594486 46594486 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr22:46594486C>T c.206C>T c.(205-207)aCg>aTg p.T69M COADREAD 22 46611089 46611089 + Silent SNP G G A TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr22:46611089G>A c.228G>A c.(226-228)tcG>tcA p.S76S COADREAD 22 46611129 46611129 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr22:46611129G>A c.268G>A c.(268-270)Gtg>Atg p.V90M COADREAD 22 46614173 46614173 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:46614173G>A c.383G>A c.(382-384)cGa>cAa p.R128Q COADREAD 22 46615783 46615784 + Frame_Shift_Del DEL AT AT - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr22:46615783_46615784delAT c.583_584delAT c.(583-585)atafs p.I195fs COADREAD 22 46628049 46628049 + Missense_Mutation SNP A A G TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr22:46628049A>G c.1072A>G c.(1072-1074)Aag>Gag p.K358E COADREAD 22 46628050 46628050 + Missense_Mutation SNP A A G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr22:46628050A>G c.1073A>G c.(1072-1074)aAg>aGg p.K358R COADREAD 22 46628102 46628102 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:46628102C>A c.1125C>A c.(1123-1125)atC>atA p.I375I COADREAD 22 46628121 46628121 + Missense_Mutation SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr22:46628121A>G c.1144A>G c.(1144-1146)Atc>Gtc p.I382V ESCA 22 46614298 46614298 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr22:46614298G>T c.508G>T c.(508-510)Gcg>Tcg p.A170S GBM 22 46594404 46594404 + Missense_Mutation SNP G G A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 g.chr22:46594404G>A c.124G>A c.(124-126)Ggc>Agc p.G42S GBMLGG 22 46594404 46594404 + Missense_Mutation SNP G G A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 g.chr22:46594404G>A c.124G>A c.(124-126)Ggc>Agc p.G42S GBMLGG 22 46594465 46594465 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:46594465G>A c.185G>A c.(184-186)gGc>gAc p.G62D GBMLGG 22 46614215 46614215 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:46614215G>T c.425G>T c.(424-426)aGc>aTc p.S142I GBMLGG 22 46627789 46627789 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 g.chr22:46627789G>A c.812G>A c.(811-813)cGc>cAc p.R271H HNSC 22 46594409 46594409 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr22:46594409G>T c.129G>T c.(127-129)gaG>gaT p.E43D HNSC 22 46614182 46614182 + Missense_Mutation SNP G G A TCGA-P3-A6T0-01A-12D-A34J-08 TCGA-P3-A6T0-10A-01D-A34M-08 g.chr22:46614182G>A c.392G>A c.(391-393)cGa>cAa p.R131Q LGG 22 46594465 46594465 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:46594465G>A c.185G>A c.(184-186)gGc>gAc p.G62D LGG 22 46614215 46614215 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:46614215G>T c.425G>T c.(424-426)aGc>aTc p.S142I LGG 22 46627789 46627789 + Missense_Mutation SNP G G A TCGA-TQ-A7RK-01A-11D-A33T-08 TCGA-TQ-A7RK-10A-01D-A33W-08 g.chr22:46627789G>A c.812G>A c.(811-813)cGc>cAc p.R271H LIHC 22 46594481 46594481 + Silent SNP C C T TCGA-CC-A7IE-01A-21D-A382-10 TCGA-CC-A7IE-10A-01D-A385-10 g.chr22:46594481C>T c.201C>T c.(199-201)gtC>gtT p.V67V LIHC 22 46611213 46611213 + Missense_Mutation SNP G G T TCGA-DD-A39W-01A-11D-A20W-10 TCGA-DD-A39W-11A-11D-A20W-10 g.chr22:46611213G>T c.352G>T c.(352-354)Gcg>Tcg p.A118S LIHC 22 46614190 46614190 + Missense_Mutation SNP C C G TCGA-DD-AADK-01A-11D-A40R-10 TCGA-DD-AADK-10A-01D-A40U-10 g.chr22:46614190C>G c.400C>G c.(400-402)Ctg>Gtg p.L134V LIHC 22 46615711 46615711 + Missense_Mutation SNP A A C TCGA-G3-A25Z-01A-11D-A16V-10 TCGA-G3-A25Z-10A-01D-A16V-10 g.chr22:46615711A>C c.511A>C c.(511-513)Att>Ctt p.I171L LUAD 22 46594329 46594329 + Frame_Shift_Del DEL G G - TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr22:46594329delG c.49delG c.(49-51)ggcfs p.G17fs LUAD 22 46611143 46611143 + Silent SNP C C T TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr22:46611143C>T c.282C>T c.(280-282)ccC>ccT p.P94P LUAD 22 46615710 46615710 + Splice_Site SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr22:46615710G>A c.510G>A c.(508-510)gcG>gcA p.A170A LUAD 22 46627756 46627756 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 g.chr22:46627756C>T c.779C>T c.(778-780)gCc>gTc p.A260V LUAD 22 46631062 46631063 + Frame_Shift_Ins INS - - A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr22:46631062_46631063insA c.1192_1193insA c.(1192-1194)gaafs p.E398fs LUSC 22 46611134 46611134 + Silent SNP C C T TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr22:46611134C>T c.273C>T c.(271-273)gaC>gaT p.D91D LUSC 22 46627709 46627709 + Missense_Mutation SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr22:46627709G>T c.732G>T c.(730-732)atG>atT p.M244I OV 22 46594453 46594453 + Missense_Mutation SNP G G C TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 g.chr22:46594453G>C c.173G>C c.(172-174)gGa>gCa p.G58A PAAD 22 46614253 46614253 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:46614253T>C c.463T>C c.(463-465)Tat>Cat p.Y155H PAAD 22 46627925 46627925 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:46627925C>T c.948C>T c.(946-948)gcC>gcT p.A316A PRAD 22 46611177 46611177 + Missense_Mutation SNP G G A TCGA-EJ-8474-01A-11D-2395-08 TCGA-EJ-8474-10A-01D-2395-08 g.chr22:46611177G>A c.316G>A c.(316-318)Ggg>Agg p.G106R PRAD 22 46614283 46614283 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr22:46614283G>A c.493G>A c.(493-495)Ggg>Agg p.G165R READ 22 46628102 46628102 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:46628102C>A c.1125C>A c.(1123-1125)atC>atA p.I375I SARC 22 46594478 46594478 + Silent SNP G G C TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 g.chr22:46594478G>C c.198G>C c.(196-198)tcG>tcC p.S66S SARC 22 46611070 46611070 + Splice_Site SNP A A G TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 g.chr22:46611070A>G c.209A>G c.(208-210)gAc>gGc p.D70G SKCM 22 46594430 46594430 + Silent SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr22:46594430C>T c.150C>T c.(148-150)ggC>ggT p.G50G SKCM 22 46594462 46594462 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr22:46594462C>T c.182C>T c.(181-183)cCt>cTt p.P61L SKCM 22 46594477 46594477 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr22:46594477C>T c.197C>T c.(196-198)tCg>tTg p.S66L SKCM 22 46611088 46611088 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr22:46611088C>T c.227C>T c.(226-228)tCg>tTg p.S76L SKCM 22 46611088 46611088 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr22:46611088C>T c.227C>T c.(226-228)tCg>tTg p.S76L SKCM 22 46614165 46614165 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr22:46614165C>T c.375C>T c.(373-375)ttC>ttT p.F125F SKCM 22 46614211 46614211 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr22:46614211C>T c.421C>T c.(421-423)Cgc>Tgc p.R141C SKCM 22 46614225 46614225 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr22:46614225C>T c.435C>T c.(433-435)atC>atT p.I145I SKCM 22 46614265 46614265 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr22:46614265C>T c.475C>T c.(475-477)Cac>Tac p.H159Y SKCM 22 46615714 46615714 + Missense_Mutation SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr22:46615714C>T c.514C>T c.(514-516)Cgt>Tgt p.R172C SKCM 22 46615854 46615854 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:46615854C>T c.654C>T c.(652-654)ttC>ttT p.F218F SKCM 22 46628087 46628087 + Silent SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr22:46628087G>A c.1110G>A c.(1108-1110)ctG>ctA p.L370L SKCM 22 46631032 46631032 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr22:46631032C>T c.1162C>T c.(1162-1164)Cgt>Tgt p.R388C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 22 46542592 46542592 single base substitution C T upstream_gene_variant BRCA-EU 22 46542845 46542845 single base substitution C T upstream_gene_variant BRCA-EU 22 46545457 46545457 single base substitution G A upstream_gene_variant BRCA-EU 22 46547105 46547105 single base substitution C G intron_variant BRCA-EU 22 46547105 46547105 single base substitution C G upstream_gene_variant BRCA-EU 22 46548476 46548476 single base substitution G A downstream_gene_variant BRCA-EU 22 46548476 46548476 single base substitution G A intron_variant BRCA-EU 22 46549437 46549437 single base substitution C A downstream_gene_variant BRCA-EU 22 46549437 46549437 single base substitution C A intron_variant BRCA-EU 22 46551044 46551044 single base substitution G C downstream_gene_variant BRCA-EU 22 46551044 46551044 single base substitution G C intron_variant BRCA-EU 22 46551093 46551093 single base substitution T C downstream_gene_variant BRCA-EU 22 46551093 46551093 single base substitution T C intron_variant BRCA-EU 22 46551439 46551439 single base substitution A G downstream_gene_variant BRCA-EU 22 46551439 46551439 single base substitution A G intron_variant BRCA-EU 22 46552632 46552632 single base substitution G A downstream_gene_variant BRCA-EU 22 46552632 46552632 single base substitution G A intron_variant BRCA-EU 22 46553773 46553773 single base substitution A G downstream_gene_variant BRCA-EU 22 46553773 46553773 single base substitution A G intron_variant BRCA-EU 22 46554211 46554211 single base substitution G A downstream_gene_variant BRCA-EU 22 46554211 46554211 single base substitution G A intron_variant BRCA-EU 22 46554477 46554477 single base substitution T C downstream_gene_variant BRCA-EU 22 46554477 46554477 single base substitution T C intron_variant BRCA-EU 22 46555165 46555165 single base substitution A T downstream_gene_variant BRCA-EU 22 46555165 46555165 single base substitution A T intron_variant BRCA-EU 22 46557437 46557437 single base substitution A G downstream_gene_variant BRCA-EU 22 46557437 46557437 single base substitution A G intron_variant BRCA-EU 22 46558056 46558056 single base substitution C T intron_variant BRCA-EU 22 46558520 46558520 single base substitution C A intron_variant BRCA-EU 22 46559000 46559000 single base substitution G A intron_variant BRCA-EU 22 46559567 46559567 single base substitution C T intron_variant BRCA-EU 22 46561551 46561551 single base substitution C T intron_variant BRCA-EU 22 46562020 46562020 single base substitution G A intron_variant BRCA-EU 22 46562296 46562296 single base substitution C A intron_variant BRCA-EU 22 46562296 46562296 single base substitution C A upstream_gene_variant BRCA-EU 22 46563396 46563396 single base substitution G T intron_variant BRCA-EU 22 46563396 46563396 single base substitution G T upstream_gene_variant BRCA-EU 22 46563486 46563486 single base substitution A G intron_variant BRCA-EU 22 46563486 46563486 single base substitution A G upstream_gene_variant BRCA-EU 22 46563525 46563525 single base substitution A T intron_variant BRCA-EU 22 46563525 46563525 single base substitution A T upstream_gene_variant BRCA-EU 22 46564097 46564097 single base substitution A C intron_variant BRCA-EU 22 46564097 46564097 single base substitution A C upstream_gene_variant BRCA-EU 22 46564120 46564120 single base substitution A G intron_variant BRCA-EU 22 46564120 46564120 single base substitution A G upstream_gene_variant BRCA-EU 22 46564200 46564200 single base substitution A G intron_variant BRCA-EU 22 46564200 46564200 single base substitution A G upstream_gene_variant BRCA-EU 22 46564208 46564208 single base substitution A G intron_variant BRCA-EU 22 46564208 46564208 single base substitution A G upstream_gene_variant BRCA-EU 22 46565761 46565761 single base substitution C G intron_variant BRCA-EU 22 46565761 46565761 single base substitution C G upstream_gene_variant BRCA-EU 22 46567102 46567102 single base substitution G A intron_variant BRCA-EU 22 46567102 46567102 single base substitution G A upstream_gene_variant BRCA-EU 22 46569627 46569627 single base substitution G A intron_variant BRCA-EU 22 46569627 46569627 single base substitution G A upstream_gene_variant BRCA-EU 22 46569992 46569992 single base substitution T A intron_variant BRCA-EU 22 46569992 46569992 single base substitution T A upstream_gene_variant BRCA-EU 22 46570118 46570118 single base substitution A G intron_variant BRCA-EU 22 46570118 46570118 single base substitution A G upstream_gene_variant BRCA-EU 22 46571200 46571200 single base substitution C T intron_variant BRCA-EU 22 46571200 46571200 single base substitution C T upstream_gene_variant BRCA-EU 22 46571983 46571983 single base substitution C G exon_variant BRCA-EU 22 46571983 46571983 single base substitution C G intron_variant BRCA-EU 22 46571983 46571983 single base substitution C G upstream_gene_variant BRCA-EU 22 46572380 46572380 single base substitution A G intron_variant BRCA-EU 22 46572380 46572380 single base substitution A G upstream_gene_variant BRCA-EU 22 46573135 46573135 single base substitution T A intron_variant BRCA-EU 22 46574858 46574858 single base substitution G C intron_variant BRCA-EU 22 46575270 46575270 single base substitution T C intron_variant BRCA-EU 22 46576088 46576088 single base substitution T C intron_variant BRCA-EU 22 46578149 46578149 single base substitution G C intron_variant BRCA-EU 22 46578553 46578553 single base substitution C T intron_variant BRCA-EU 22 46579883 46579887 deletion of <=200bp GTAAA - intron_variant BRCA-EU 22 46580701 46580701 single base substitution G A intron_variant BRCA-EU 22 46581441 46581441 single base substitution T A intron_variant BRCA-EU 22 46581914 46581914 single base substitution C G intron_variant BRCA-EU 22 46582191 46582191 single base substitution C G intron_variant BRCA-EU 22 46583087 46583087 single base substitution C A intron_variant BRCA-EU 22 46584205 46584205 single base substitution C T intron_variant BRCA-EU 22 46584351 46584351 single base substitution C A intron_variant BRCA-EU 22 46585392 46585392 single base substitution C G intron_variant BRCA-EU 22 46586155 46586155 single base substitution C G intron_variant BRCA-EU 22 46588179 46588179 single base substitution G T intron_variant BRCA-EU 22 46588384 46588384 single base substitution A G intron_variant BRCA-EU 22 46594254 46594254 single base substitution C T 5_prime_UTR_variant BRCA-EU 22 46594254 46594254 single base substitution C T exon_variant BRCA-EU 22 46594254 46594254 single base substitution C T upstream_gene_variant BRCA-EU 22 46594911 46594911 single base substitution C G downstream_gene_variant BRCA-EU 22 46594911 46594911 single base substitution C G intron_variant BRCA-EU 22 46595745 46595745 single base substitution T C downstream_gene_variant BRCA-EU 22 46595745 46595745 single base substitution T C intron_variant BRCA-EU 22 46597309 46597310 deletion of <=200bp GC - downstream_gene_variant BRCA-EU 22 46597309 46597310 deletion of <=200bp GC - intron_variant BRCA-EU 22 46598592 46598592 single base substitution C T downstream_gene_variant BRCA-EU 22 46598592 46598592 single base substitution C T intron_variant BRCA-EU 22 46598857 46598857 deletion of <=200bp A - downstream_gene_variant BRCA-EU 22 46598857 46598857 deletion of <=200bp A - intron_variant BRCA-EU 22 46600267 46600267 single base substitution G C intron_variant BRCA-EU 22 46602255 46602255 single base substitution G A intron_variant BRCA-EU 22 46604442 46604442 single base substitution C G intron_variant BRCA-EU 22 46606040 46606040 single base substitution C T intron_variant BRCA-EU 22 46606421 46606421 single base substitution C T intron_variant BRCA-EU 22 46606780 46606780 single base substitution C G intron_variant BRCA-EU 22 46607109 46607109 deletion of <=200bp G - intron_variant BRCA-EU 22 46608150 46608150 single base substitution C T intron_variant BRCA-EU 22 46608883 46608884 deletion of <=200bp CT - intron_variant BRCA-EU 22 46609154 46609195 deletion of <=200bp TGTGGTGACACCACATTGTTGTTCTCATTCTCAGTGCCCCGA - intron_variant BRCA-EU 22 46609219 46609219 single base substitution T G intron_variant BRCA-EU 22 46609962 46609962 single base substitution T C intron_variant BRCA-EU 22 46610282 46610282 single base substitution G A intron_variant BRCA-EU 22 46610414 46610414 single base substitution G A intron_variant BRCA-EU 22 46610497 46610497 single base substitution G T intron_variant BRCA-EU 22 46610545 46610545 single base substitution C T intron_variant BRCA-EU 22 46612565 46612565 single base substitution G A downstream_gene_variant BRCA-EU 22 46612565 46612565 single base substitution G A intron_variant BRCA-EU 22 46615670 46615670 single base substitution C T downstream_gene_variant BRCA-EU 22 46615670 46615670 single base substitution C T intron_variant BRCA-EU 22 46615809 46615809 single base substitution C G downstream_gene_variant BRCA-EU 22 46615809 46615809 single base substitution C G exon_variant BRCA-EU 22 46615809 46615809 single base substitution C G intron_variant BRCA-EU 22 46615809 46615809 single base substitution C G synonymous_variant L203L 609C>G BRCA-EU 22 46617650 46617650 single base substitution C G downstream_gene_variant BRCA-EU 22 46617650 46617650 single base substitution C G intron_variant BRCA-EU 22 46617794 46617794 single base substitution G A downstream_gene_variant BRCA-EU 22 46617794 46617794 single base substitution G A intron_variant BRCA-EU 22 46618689 46618689 single base substitution G A downstream_gene_variant BRCA-EU 22 46618689 46618689 single base substitution G A intron_variant BRCA-EU 22 46621305 46621305 single base substitution A C downstream_gene_variant BRCA-EU 22 46621305 46621305 single base substitution A C intron_variant BRCA-EU 22 46622559 46622559 single base substitution C T intron_variant BRCA-EU 22 46623740 46623740 single base substitution A G intron_variant BRCA-EU 22 46629187 46629187 single base substitution G A intron_variant BRCA-EU 22 46630211 46630211 single base substitution G A intron_variant BRCA-EU 22 46630518 46630518 single base substitution G A intron_variant BRCA-EU 22 46631446 46631446 single base substitution C A 3_prime_UTR_variant BRCA-EU 22 46631446 46631446 single base substitution C A downstream_gene_variant BRCA-EU 22 46631517 46631517 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 46631517 46631517 single base substitution C T downstream_gene_variant BRCA-EU 22 46634301 46634301 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 46634301 46634301 single base substitution C T downstream_gene_variant BRCA-EU 22 46634633 46634633 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 46634633 46634633 single base substitution G A downstream_gene_variant BRCA-EU 22 46635149 46635149 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 46635149 46635149 single base substitution C T downstream_gene_variant BRCA-EU 22 46636698 46636698 single base substitution G T 3_prime_UTR_variant BRCA-EU 22 46636708 46636708 single base substitution T A 3_prime_UTR_variant BRCA-EU 22 46637051 46637051 single base substitution A T 3_prime_UTR_variant BRCA-EU 22 46637483 46637483 single base substitution C A 3_prime_UTR_variant BRCA-EU 22 46638210 46638210 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 46638390 46638390 single base substitution T C 3_prime_UTR_variant BRCA-EU 22 46640383 46640383 single base substitution T G downstream_gene_variant BRCA-EU 22 46640691 46640691 single base substitution C T downstream_gene_variant BRCA-EU 22 46641204 46641204 single base substitution A G downstream_gene_variant BRCA-EU 22 46641511 46641511 single base substitution C T downstream_gene_variant BRCA-EU 22 46641630 46641630 single base substitution C A downstream_gene_variant BRCA-EU 22 46641763 46641763 single base substitution C G downstream_gene_variant BRCA-EU 22 46643981 46643981 single base substitution G A downstream_gene_variant BRCA-EU 22 46644464 46644464 single base substitution G A downstream_gene_variant BRCA-EU 22 46644644 46644644 single base substitution G A downstream_gene_variant BRCA-FR 22 46543924 46543924 single base substitution A G upstream_gene_variant BRCA-FR 22 46551439 46551439 single base substitution A G downstream_gene_variant BRCA-FR 22 46551439 46551439 single base substitution A G intron_variant BRCA-FR 22 46554211 46554211 single base substitution G A downstream_gene_variant BRCA-FR 22 46554211 46554211 single base substitution G A intron_variant BRCA-FR 22 46554477 46554477 single base substitution T C downstream_gene_variant BRCA-FR 22 46554477 46554477 single base substitution T C intron_variant BRCA-FR 22 46557241 46557241 single base substitution A T downstream_gene_variant BRCA-FR 22 46557241 46557241 single base substitution A T intron_variant BRCA-FR 22 46565761 46565761 single base substitution C G intron_variant BRCA-FR 22 46565761 46565761 single base substitution C G upstream_gene_variant BRCA-FR 22 46569627 46569627 single base substitution G A intron_variant BRCA-FR 22 46569627 46569627 single base substitution G A upstream_gene_variant BRCA-FR 22 46571200 46571200 single base substitution C T intron_variant BRCA-FR 22 46571200 46571200 single base substitution C T upstream_gene_variant BRCA-FR 22 46578553 46578553 single base substitution C T intron_variant BRCA-FR 22 46578754 46578754 single base substitution G A intron_variant BRCA-FR 22 46591179 46591179 single base substitution C T intron_variant BRCA-FR 22 46591179 46591179 single base substitution C T upstream_gene_variant BRCA-FR 22 46598062 46598062 single base substitution C T downstream_gene_variant BRCA-FR 22 46598062 46598062 single base substitution C T intron_variant BRCA-FR 22 46598592 46598592 single base substitution C T downstream_gene_variant BRCA-FR 22 46598592 46598592 single base substitution C T intron_variant BRCA-FR 22 46605320 46605320 single base substitution C T intron_variant BRCA-FR 22 46606040 46606040 single base substitution C T intron_variant BRCA-FR 22 46606768 46606768 single base substitution C T intron_variant BRCA-FR 22 46606780 46606780 single base substitution C G intron_variant BRCA-FR 22 46608150 46608150 single base substitution C T intron_variant BRCA-FR 22 46609219 46609219 single base substitution T G intron_variant BRCA-FR 22 46613923 46613923 single base substitution G C downstream_gene_variant BRCA-FR 22 46613923 46613923 single base substitution G C intron_variant BRCA-FR 22 46630211 46630211 single base substitution G A intron_variant BRCA-FR 22 46643423 46643423 single base substitution G A downstream_gene_variant BRCA-FR 22 46643981 46643981 single base substitution G A downstream_gene_variant BRCA-UK 22 46558938 46558938 single base substitution C G intron_variant BRCA-UK 22 46559074 46559074 single base substitution C T intron_variant BRCA-UK 22 46594043 46594043 single base substitution G A intron_variant BRCA-UK 22 46594043 46594043 single base substitution G A upstream_gene_variant BRCA-UK 22 46606421 46606421 single base substitution C T intron_variant BRCA-UK 22 46638210 46638210 single base substitution C T 3_prime_UTR_variant BRCA-US 22 46615733 46615733 single base substitution G T downstream_gene_variant BRCA-US 22 46615733 46615733 single base substitution G T exon_variant BRCA-US 22 46615733 46615733 single base substitution G T intron_variant BRCA-US 22 46615733 46615733 single base substitution G T missense_variant R178I 533G>T BRCA-US 22 46627967 46627967 single base substitution G T 3_prime_UTR_variant BRCA-US 22 46627967 46627967 single base substitution G T missense_variant M330I 990G>T BRCA-US 22 46628068 46628068 single base substitution A C 3_prime_UTR_variant BRCA-US 22 46628068 46628068 single base substitution A C missense_variant K364T 1091A>C BRCA-US 22 46631235 46631237 deletion of <=200bp GCT - 3_prime_UTR_variant BRCA-US 22 46631235 46631237 deletion of <=200bp GCT - inframe_deletion AL455A BTCA-JP 22 46614211 46614211 single base substitution C T downstream_gene_variant BTCA-JP 22 46614211 46614211 single base substitution C T exon_variant BTCA-JP 22 46614211 46614211 single base substitution C T missense_variant R141C 421C>T BTCA-JP 22 46615710 46615710 single base substitution G A downstream_gene_variant BTCA-JP 22 46615710 46615710 single base substitution G A intron_variant BTCA-JP 22 46615710 46615710 single base substitution G A splice_region_variant BTCA-JP 22 46615740 46615740 single base substitution G T downstream_gene_variant BTCA-JP 22 46615740 46615740 single base substitution G T exon_variant BTCA-JP 22 46615740 46615740 single base substitution G T intron_variant BTCA-JP 22 46615740 46615740 single base substitution G T missense_variant E180D 540G>T CESC-US 22 46631032 46631032 single base substitution C T missense_variant R388C 1162C>T CESC-US 22 46631032 46631032 single base substitution C T splice_region_variant CESC-US 22 46641057 46641057 single base substitution G A downstream_gene_variant CLLE-ES 22 46542336 46542336 insertion of <=200bp - AG upstream_gene_variant CLLE-ES 22 46551033 46551033 single base substitution A G downstream_gene_variant CLLE-ES 22 46551033 46551033 single base substitution A G intron_variant CLLE-ES 22 46556259 46556259 single base substitution G A downstream_gene_variant CLLE-ES 22 46556259 46556259 single base substitution G A intron_variant CLLE-ES 22 46565816 46565816 single base substitution T G intron_variant CLLE-ES 22 46565816 46565816 single base substitution T G upstream_gene_variant CLLE-ES 22 46566495 46566495 single base substitution C T intron_variant CLLE-ES 22 46566495 46566495 single base substitution C T upstream_gene_variant CLLE-ES 22 46612842 46612842 single base substitution A T downstream_gene_variant CLLE-ES 22 46612842 46612842 single base substitution A T intron_variant CLLE-ES 22 46615775 46615775 single base substitution A T downstream_gene_variant CLLE-ES 22 46615775 46615775 single base substitution A T exon_variant CLLE-ES 22 46615775 46615775 single base substitution A T intron_variant CLLE-ES 22 46615775 46615775 single base substitution A T missense_variant E192V 575A>T CLLE-ES 22 46617223 46617223 single base substitution T G downstream_gene_variant CLLE-ES 22 46617223 46617223 single base substitution T G intron_variant CLLE-ES 22 46619407 46619407 single base substitution G A downstream_gene_variant CLLE-ES 22 46619407 46619407 single base substitution G A intron_variant COAD-US 22 46611089 46611089 single base substitution G A exon_variant COAD-US 22 46611089 46611089 single base substitution G A synonymous_variant S76S 228G>A COAD-US 22 46611129 46611129 single base substitution G A exon_variant COAD-US 22 46611129 46611129 single base substitution G A missense_variant V90M 268G>A COAD-US 22 46611214 46611214 single base substitution C T exon_variant COAD-US 22 46611214 46611214 single base substitution C T missense_variant A118V 353C>T COAD-US 22 46614173 46614173 single base substitution G A downstream_gene_variant COAD-US 22 46614173 46614173 single base substitution G A exon_variant COAD-US 22 46614173 46614173 single base substitution G A missense_variant R128Q 383G>A COAD-US 22 46615783 46615784 deletion of <=200bp AT - downstream_gene_variant COAD-US 22 46615783 46615784 deletion of <=200bp AT - exon_variant COAD-US 22 46615783 46615784 deletion of <=200bp AT - frameshift_variant I195 COAD-US 22 46615783 46615784 deletion of <=200bp AT - intron_variant COAD-US 22 46641070 46641070 deletion of <=200bp A - downstream_gene_variant COCA-CN 22 46594531 46594531 single base substitution C T downstream_gene_variant COCA-CN 22 46594531 46594531 single base substitution C T intron_variant COCA-CN 22 46594548 46594548 single base substitution G T downstream_gene_variant COCA-CN 22 46594548 46594548 single base substitution G T intron_variant COCA-CN 22 46594557 46594557 single base substitution T C downstream_gene_variant COCA-CN 22 46594557 46594557 single base substitution T C intron_variant COCA-CN 22 46614260 46614260 single base substitution G A downstream_gene_variant COCA-CN 22 46614260 46614260 single base substitution G A exon_variant COCA-CN 22 46614260 46614260 single base substitution G A missense_variant R157Q 470G>A COCA-CN 22 46628221 46628221 single base substitution G C intron_variant COCA-CN 22 46643252 46643252 single base substitution G T downstream_gene_variant EOPC-DE 22 46592897 46592897 single base substitution C T intron_variant EOPC-DE 22 46592897 46592897 single base substitution C T upstream_gene_variant EOPC-DE 22 46620418 46620418 single base substitution G A downstream_gene_variant EOPC-DE 22 46620418 46620418 single base substitution G A intron_variant ESAD-UK 22 46542320 46542320 single base substitution G A upstream_gene_variant ESAD-UK 22 46542324 46542324 single base substitution A G upstream_gene_variant ESAD-UK 22 46542329 46542329 single base substitution G A upstream_gene_variant ESAD-UK 22 46546220 46546220 single base substitution G A upstream_gene_variant ESAD-UK 22 46547277 46547277 single base substitution C T intron_variant ESAD-UK 22 46547277 46547277 single base substitution C T upstream_gene_variant ESAD-UK 22 46547885 46547885 single base substitution G A 5_prime_UTR_variant ESAD-UK 22 46547885 46547885 single base substitution G A downstream_gene_variant ESAD-UK 22 46547885 46547885 single base substitution G A intron_variant ESAD-UK 22 46548127 46548127 single base substitution T A downstream_gene_variant ESAD-UK 22 46548127 46548127 single base substitution T A intron_variant ESAD-UK 22 46549462 46549462 single base substitution T C downstream_gene_variant ESAD-UK 22 46549462 46549462 single base substitution T C intron_variant ESAD-UK 22 46551787 46551787 single base substitution C A downstream_gene_variant ESAD-UK 22 46551787 46551787 single base substitution C A intron_variant ESAD-UK 22 46554147 46554147 single base substitution A T downstream_gene_variant ESAD-UK 22 46554147 46554147 single base substitution A T intron_variant ESAD-UK 22 46555726 46555726 single base substitution G C downstream_gene_variant ESAD-UK 22 46555726 46555726 single base substitution G C intron_variant ESAD-UK 22 46558269 46558269 single base substitution C T intron_variant ESAD-UK 22 46564836 46564836 single base substitution A G intron_variant ESAD-UK 22 46564836 46564836 single base substitution A G upstream_gene_variant ESAD-UK 22 46571500 46571500 single base substitution A G intron_variant ESAD-UK 22 46571500 46571500 single base substitution A G upstream_gene_variant ESAD-UK 22 46572826 46572836 deletion of <=200bp GGCCGGGCGCA - intron_variant ESAD-UK 22 46572839 46572846 deletion of <=200bp GGCTCACG - intron_variant ESAD-UK 22 46572950 46572950 single base substitution A T intron_variant ESAD-UK 22 46573456 46573456 single base substitution C T intron_variant ESAD-UK 22 46574740 46574740 single base substitution A T intron_variant ESAD-UK 22 46580386 46580386 single base substitution C T intron_variant ESAD-UK 22 46580621 46580621 single base substitution G A intron_variant ESAD-UK 22 46582671 46582671 insertion of <=200bp - C intron_variant ESAD-UK 22 46585428 46585428 single base substitution C A intron_variant ESAD-UK 22 46587198 46587198 single base substitution C A intron_variant ESAD-UK 22 46592073 46592073 single base substitution A C intron_variant ESAD-UK 22 46592073 46592073 single base substitution A C upstream_gene_variant ESAD-UK 22 46592683 46592683 single base substitution G A intron_variant ESAD-UK 22 46592683 46592683 single base substitution G A upstream_gene_variant ESAD-UK 22 46598342 46598342 single base substitution A C downstream_gene_variant ESAD-UK 22 46598342 46598342 single base substitution A C intron_variant ESAD-UK 22 46598486 46598486 single base substitution T A downstream_gene_variant ESAD-UK 22 46598486 46598486 single base substitution T A intron_variant ESAD-UK 22 46598760 46598760 insertion of <=200bp - TAAA downstream_gene_variant ESAD-UK 22 46598760 46598760 insertion of <=200bp - TAAA intron_variant ESAD-UK 22 46601669 46601669 single base substitution T A intron_variant ESAD-UK 22 46603843 46603843 single base substitution A G intron_variant ESAD-UK 22 46610412 46610412 single base substitution G C intron_variant ESAD-UK 22 46611086 46611086 single base substitution T C exon_variant ESAD-UK 22 46611086 46611086 single base substitution T C synonymous_variant A75A 225T>C ESAD-UK 22 46611256 46611256 single base substitution G C intron_variant ESAD-UK 22 46611256 46611256 single base substitution G C missense_variant W132S 395G>C ESAD-UK 22 46611361 46611361 single base substitution G A downstream_gene_variant ESAD-UK 22 46611361 46611361 single base substitution G A intron_variant ESAD-UK 22 46611645 46611645 single base substitution A G downstream_gene_variant ESAD-UK 22 46611645 46611645 single base substitution A G intron_variant ESAD-UK 22 46613469 46613469 single base substitution T C downstream_gene_variant ESAD-UK 22 46613469 46613469 single base substitution T C intron_variant ESAD-UK 22 46614708 46614708 single base substitution G A downstream_gene_variant ESAD-UK 22 46614708 46614708 single base substitution G A intron_variant ESAD-UK 22 46615313 46615313 single base substitution C A downstream_gene_variant ESAD-UK 22 46615313 46615313 single base substitution C A intron_variant ESAD-UK 22 46616166 46616166 deletion of <=200bp A - downstream_gene_variant ESAD-UK 22 46616166 46616166 deletion of <=200bp A - exon_variant ESAD-UK 22 46616166 46616166 deletion of <=200bp A - intron_variant ESAD-UK 22 46617647 46617647 single base substitution G A downstream_gene_variant ESAD-UK 22 46617647 46617647 single base substitution G A intron_variant ESAD-UK 22 46619755 46619755 single base substitution G A downstream_gene_variant ESAD-UK 22 46619755 46619755 single base substitution G A intron_variant ESAD-UK 22 46621264 46621264 single base substitution G T downstream_gene_variant ESAD-UK 22 46621264 46621264 single base substitution G T intron_variant ESAD-UK 22 46622758 46622758 deletion of <=200bp A - intron_variant ESAD-UK 22 46625560 46625560 single base substitution T C intron_variant ESAD-UK 22 46626490 46626490 single base substitution C T intron_variant ESAD-UK 22 46630276 46630276 single base substitution G T intron_variant ESAD-UK 22 46632797 46632797 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 46632797 46632797 single base substitution C T downstream_gene_variant ESAD-UK 22 46634242 46634242 single base substitution A G 3_prime_UTR_variant ESAD-UK 22 46634242 46634242 single base substitution A G downstream_gene_variant ESAD-UK 22 46635409 46635409 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 22 46635409 46635409 deletion of <=200bp G - downstream_gene_variant ESAD-UK 22 46635706 46635706 single base substitution T G 3_prime_UTR_variant ESAD-UK 22 46635706 46635706 single base substitution T G downstream_gene_variant ESAD-UK 22 46635748 46635748 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 46635748 46635748 single base substitution C T downstream_gene_variant ESAD-UK 22 46638806 46638806 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 46641691 46641691 single base substitution C T downstream_gene_variant ESAD-UK 22 46644300 46644300 single base substitution G A downstream_gene_variant ESCA-CN 22 46594555 46594555 single base substitution C T downstream_gene_variant ESCA-CN 22 46594555 46594555 single base substitution C T intron_variant ESCA-CN 22 46641040 46641040 single base substitution T C downstream_gene_variant ESCA-CN 22 46643087 46643087 single base substitution G A downstream_gene_variant GBM-US 22 46594404 46594404 single base substitution G A downstream_gene_variant GBM-US 22 46594404 46594404 single base substitution G A exon_variant GBM-US 22 46594404 46594404 single base substitution G A missense_variant G42S 124G>A LAML-KR 22 46542358 46542358 single base substitution A G upstream_gene_variant LAML-KR 22 46542363 46542363 single base substitution A G upstream_gene_variant LAML-KR 22 46590713 46590713 single base substitution A T intron_variant LAML-KR 22 46590713 46590713 single base substitution A T upstream_gene_variant LAML-KR 22 46590718 46590718 single base substitution A G intron_variant LAML-KR 22 46590718 46590718 single base substitution A G upstream_gene_variant LAML-KR 22 46614685 46614685 single base substitution T C downstream_gene_variant LAML-KR 22 46614685 46614685 single base substitution T C intron_variant LAML-KR 22 46619526 46619526 single base substitution C T downstream_gene_variant LAML-KR 22 46619526 46619526 single base substitution C T intron_variant LICA-FR 22 46542353 46542353 single base substitution A G upstream_gene_variant LICA-FR 22 46548062 46548062 single base substitution G A downstream_gene_variant LICA-FR 22 46548062 46548062 single base substitution G A intron_variant LICA-FR 22 46555686 46555686 single base substitution G T downstream_gene_variant LICA-FR 22 46555686 46555686 single base substitution G T intron_variant LICA-FR 22 46558122 46558122 single base substitution G T intron_variant LICA-FR 22 46563001 46563003 deletion of <=200bp CAG - intron_variant LICA-FR 22 46563001 46563003 deletion of <=200bp CAG - upstream_gene_variant LICA-FR 22 46593317 46593317 single base substitution G T intron_variant LICA-FR 22 46593317 46593317 single base substitution G T upstream_gene_variant LICA-FR 22 46608014 46608014 single base substitution A G intron_variant LICA-FR 22 46636570 46636570 single base substitution A G 3_prime_UTR_variant LICA-FR 22 46637811 46637811 deletion of <=200bp A - 3_prime_UTR_variant LIHC-US 22 46615711 46615711 single base substitution A C downstream_gene_variant LIHC-US 22 46615711 46615711 single base substitution A C intron_variant LIHC-US 22 46615711 46615711 single base substitution A C missense_variant I171L 511A>C LIHC-US 22 46615711 46615711 single base substitution A C splice_region_variant LINC-JP 22 46553865 46553865 single base substitution T G downstream_gene_variant LINC-JP 22 46553865 46553865 single base substitution T G intron_variant LINC-JP 22 46560764 46560764 single base substitution A G intron_variant LINC-JP 22 46565957 46565957 single base substitution A G intron_variant LINC-JP 22 46565957 46565957 single base substitution A G upstream_gene_variant LINC-JP 22 46568238 46568238 single base substitution C A intron_variant LINC-JP 22 46568238 46568238 single base substitution C A upstream_gene_variant LINC-JP 22 46576498 46576498 single base substitution A G intron_variant LINC-JP 22 46577709 46577709 single base substitution A G intron_variant LINC-JP 22 46581921 46581921 single base substitution G T intron_variant LINC-JP 22 46588345 46588345 single base substitution A G intron_variant LINC-JP 22 46589269 46589269 single base substitution T C intron_variant LINC-JP 22 46591608 46591608 single base substitution A G intron_variant LINC-JP 22 46591608 46591608 single base substitution A G upstream_gene_variant LINC-JP 22 46594154 46594154 single base substitution T A intron_variant LINC-JP 22 46594154 46594154 single base substitution T A upstream_gene_variant LINC-JP 22 46601784 46601784 single base substitution T G intron_variant LINC-JP 22 46604073 46604073 single base substitution A G intron_variant LINC-JP 22 46608529 46608529 single base substitution C T intron_variant LINC-JP 22 46627814 46627814 single base substitution G T 3_prime_UTR_variant LINC-JP 22 46627814 46627814 single base substitution G T synonymous_variant T279T 837G>T LINC-JP 22 46644413 46644413 single base substitution C A downstream_gene_variant LIRI-JP 22 46542848 46542848 single base substitution C T upstream_gene_variant LIRI-JP 22 46547742 46547742 single base substitution A G intron_variant LIRI-JP 22 46547742 46547742 single base substitution A G upstream_gene_variant LIRI-JP 22 46547761 46547761 single base substitution T A intron_variant LIRI-JP 22 46547761 46547761 single base substitution T A upstream_gene_variant LIRI-JP 22 46549590 46549590 single base substitution T A downstream_gene_variant LIRI-JP 22 46549590 46549590 single base substitution T A intron_variant LIRI-JP 22 46552595 46552595 single base substitution C G downstream_gene_variant LIRI-JP 22 46552595 46552595 single base substitution C G intron_variant LIRI-JP 22 46554761 46554761 deletion of <=200bp T - downstream_gene_variant LIRI-JP 22 46554761 46554761 deletion of <=200bp T - intron_variant LIRI-JP 22 46555750 46555750 single base substitution C T downstream_gene_variant LIRI-JP 22 46555750 46555750 single base substitution C T intron_variant LIRI-JP 22 46556869 46556869 single base substitution A T downstream_gene_variant LIRI-JP 22 46556869 46556869 single base substitution A T intron_variant LIRI-JP 22 46557858 46557858 single base substitution C T intron_variant LIRI-JP 22 46558083 46558083 single base substitution C T intron_variant LIRI-JP 22 46558955 46558955 single base substitution G A intron_variant LIRI-JP 22 46558969 46558969 single base substitution T G intron_variant LIRI-JP 22 46562100 46562100 single base substitution T G intron_variant LIRI-JP 22 46564016 46564016 single base substitution C A intron_variant LIRI-JP 22 46564016 46564016 single base substitution C A upstream_gene_variant LIRI-JP 22 46564037 46564037 single base substitution G A intron_variant LIRI-JP 22 46564037 46564037 single base substitution G A upstream_gene_variant LIRI-JP 22 46564999 46564999 single base substitution C G intron_variant LIRI-JP 22 46564999 46564999 single base substitution C G upstream_gene_variant LIRI-JP 22 46567162 46567162 single base substitution A T intron_variant LIRI-JP 22 46567162 46567162 single base substitution A T upstream_gene_variant LIRI-JP 22 46569246 46569246 single base substitution T G intron_variant LIRI-JP 22 46569246 46569246 single base substitution T G upstream_gene_variant LIRI-JP 22 46569841 46569841 single base substitution C A intron_variant LIRI-JP 22 46569841 46569841 single base substitution C A upstream_gene_variant LIRI-JP 22 46570763 46570763 single base substitution A G intron_variant LIRI-JP 22 46570763 46570763 single base substitution A G upstream_gene_variant LIRI-JP 22 46570803 46570803 single base substitution A G intron_variant LIRI-JP 22 46570803 46570803 single base substitution A G upstream_gene_variant LIRI-JP 22 46571552 46571552 single base substitution A G intron_variant LIRI-JP 22 46571552 46571552 single base substitution A G upstream_gene_variant LIRI-JP 22 46573307 46573307 single base substitution G A intron_variant LIRI-JP 22 46574179 46574179 single base substitution A G intron_variant LIRI-JP 22 46575464 46575464 single base substitution A G intron_variant LIRI-JP 22 46576994 46576994 single base substitution C G intron_variant LIRI-JP 22 46578292 46578292 single base substitution A G intron_variant LIRI-JP 22 46579015 46579015 single base substitution C G intron_variant LIRI-JP 22 46579383 46579383 single base substitution A C intron_variant LIRI-JP 22 46580723 46580723 single base substitution G A intron_variant LIRI-JP 22 46585559 46585559 single base substitution A G intron_variant LIRI-JP 22 46585559 46585559 single base substitution A T intron_variant LIRI-JP 22 46587505 46587505 single base substitution A G intron_variant LIRI-JP 22 46587608 46587608 single base substitution C T intron_variant LIRI-JP 22 46587902 46587902 single base substitution C T intron_variant LIRI-JP 22 46588123 46588123 single base substitution A G intron_variant LIRI-JP 22 46589931 46589931 deletion of <=200bp G - intron_variant LIRI-JP 22 46589931 46589931 deletion of <=200bp G - upstream_gene_variant LIRI-JP 22 46592089 46592089 single base substitution A G intron_variant LIRI-JP 22 46592089 46592089 single base substitution A G upstream_gene_variant LIRI-JP 22 46592178 46592178 single base substitution T C intron_variant LIRI-JP 22 46592178 46592178 single base substitution T C upstream_gene_variant LIRI-JP 22 46592180 46592180 single base substitution G T intron_variant LIRI-JP 22 46592180 46592180 single base substitution G T upstream_gene_variant LIRI-JP 22 46594347 46594347 single base substitution T G downstream_gene_variant LIRI-JP 22 46594347 46594347 single base substitution T G exon_variant LIRI-JP 22 46594347 46594347 single base substitution T G missense_variant L23V 67T>G LIRI-JP 22 46597102 46597102 single base substitution T C downstream_gene_variant LIRI-JP 22 46597102 46597102 single base substitution T C intron_variant LIRI-JP 22 46601329 46601329 single base substitution T C intron_variant LIRI-JP 22 46601873 46601873 single base substitution C A intron_variant LIRI-JP 22 46606845 46606845 single base substitution G T intron_variant LIRI-JP 22 46607372 46607372 single base substitution A G intron_variant LIRI-JP 22 46608641 46608641 single base substitution C T intron_variant LIRI-JP 22 46616233 46616233 single base substitution A G downstream_gene_variant LIRI-JP 22 46616233 46616233 single base substitution A G exon_variant LIRI-JP 22 46616233 46616233 single base substitution A G intron_variant LIRI-JP 22 46616245 46616245 single base substitution T G downstream_gene_variant LIRI-JP 22 46616245 46616245 single base substitution T G exon_variant LIRI-JP 22 46616245 46616245 single base substitution T G intron_variant LIRI-JP 22 46617051 46617051 single base substitution G A downstream_gene_variant LIRI-JP 22 46617051 46617051 single base substitution G A intron_variant LIRI-JP 22 46617052 46617052 single base substitution G T downstream_gene_variant LIRI-JP 22 46617052 46617052 single base substitution G T intron_variant LIRI-JP 22 46618624 46618624 single base substitution A G downstream_gene_variant LIRI-JP 22 46618624 46618624 single base substitution A G intron_variant LIRI-JP 22 46620034 46620035 deletion of <=200bp TT - downstream_gene_variant LIRI-JP 22 46620034 46620035 deletion of <=200bp TT - intron_variant LIRI-JP 22 46623129 46623129 single base substitution G C intron_variant LIRI-JP 22 46623239 46623239 single base substitution C A intron_variant LIRI-JP 22 46623624 46623624 single base substitution A C intron_variant LIRI-JP 22 46623642 46623642 single base substitution A T intron_variant LIRI-JP 22 46625942 46625942 single base substitution G A intron_variant LIRI-JP 22 46626002 46626002 single base substitution C G intron_variant LIRI-JP 22 46628163 46628163 single base substitution A G intron_variant LIRI-JP 22 46628331 46628331 single base substitution A G intron_variant LIRI-JP 22 46630940 46630940 single base substitution C A intron_variant LIRI-JP 22 46633045 46633045 single base substitution T G 3_prime_UTR_variant LIRI-JP 22 46633045 46633045 single base substitution T G downstream_gene_variant LIRI-JP 22 46638772 46638774 deletion of <=200bp CAG - 3_prime_UTR_variant LIRI-JP 22 46639142 46639142 single base substitution C T 3_prime_UTR_variant LIRI-JP 22 46639943 46639943 single base substitution T G downstream_gene_variant LIRI-JP 22 46640424 46640424 single base substitution T G downstream_gene_variant LIRI-JP 22 46640557 46640557 single base substitution G C downstream_gene_variant LIRI-JP 22 46642429 46642429 single base substitution C T downstream_gene_variant LUSC-KR 22 46542353 46542353 single base substitution A G upstream_gene_variant LUSC-KR 22 46542358 46542358 single base substitution A G upstream_gene_variant LUSC-KR 22 46542363 46542363 single base substitution A G upstream_gene_variant LUSC-KR 22 46542393 46542393 single base substitution A G upstream_gene_variant LUSC-KR 22 46543179 46543179 single base substitution C G upstream_gene_variant LUSC-KR 22 46548060 46548060 single base substitution G T downstream_gene_variant LUSC-KR 22 46548060 46548060 single base substitution G T intron_variant LUSC-KR 22 46552545 46552545 single base substitution G T downstream_gene_variant LUSC-KR 22 46552545 46552545 single base substitution G T intron_variant LUSC-KR 22 46560394 46560394 single base substitution C A intron_variant LUSC-KR 22 46561323 46561323 single base substitution G A intron_variant LUSC-KR 22 46561540 46561540 single base substitution T A intron_variant LUSC-KR 22 46562130 46562130 single base substitution A G intron_variant LUSC-KR 22 46566630 46566630 single base substitution G T intron_variant LUSC-KR 22 46566630 46566630 single base substitution G T upstream_gene_variant LUSC-KR 22 46576202 46576202 single base substitution G T intron_variant LUSC-KR 22 46576203 46576203 single base substitution G T intron_variant LUSC-KR 22 46578423 46578423 single base substitution A T intron_variant LUSC-KR 22 46590487 46590487 single base substitution G T intron_variant LUSC-KR 22 46590487 46590487 single base substitution G T upstream_gene_variant LUSC-KR 22 46597021 46597021 single base substitution C A downstream_gene_variant LUSC-KR 22 46597021 46597021 single base substitution C A intron_variant LUSC-KR 22 46598432 46598432 single base substitution G T downstream_gene_variant LUSC-KR 22 46598432 46598432 single base substitution G T intron_variant LUSC-KR 22 46604814 46604814 single base substitution C T intron_variant LUSC-KR 22 46607238 46607238 single base substitution A G intron_variant LUSC-KR 22 46609291 46609291 single base substitution A T intron_variant LUSC-KR 22 46614688 46614688 single base substitution G A downstream_gene_variant LUSC-KR 22 46614688 46614688 single base substitution G A intron_variant LUSC-KR 22 46615880 46615880 single base substitution T C downstream_gene_variant LUSC-KR 22 46615880 46615880 single base substitution T C exon_variant LUSC-KR 22 46615880 46615880 single base substitution T C intron_variant LUSC-KR 22 46615880 46615880 single base substitution T C missense_variant V227A 680T>C LUSC-KR 22 46616481 46616481 single base substitution C T exon_variant LUSC-KR 22 46616481 46616481 single base substitution C T intron_variant LUSC-KR 22 46618492 46618492 single base substitution C G downstream_gene_variant LUSC-KR 22 46618492 46618492 single base substitution C G intron_variant LUSC-KR 22 46618752 46618752 single base substitution A C downstream_gene_variant LUSC-KR 22 46618752 46618752 single base substitution A C intron_variant LUSC-KR 22 46622984 46622984 single base substitution G A intron_variant LUSC-KR 22 46631170 46631170 single base substitution C T 3_prime_UTR_variant LUSC-KR 22 46631170 46631170 single base substitution C T missense_variant R434W 1300C>T LUSC-KR 22 46635321 46635321 single base substitution T A 3_prime_UTR_variant LUSC-KR 22 46635321 46635321 single base substitution T A downstream_gene_variant LUSC-US 22 46611134 46611134 single base substitution C T exon_variant LUSC-US 22 46611134 46611134 single base substitution C T synonymous_variant D91D 273C>T LUSC-US 22 46627709 46627709 single base substitution G T 3_prime_UTR_variant LUSC-US 22 46627709 46627709 single base substitution G T missense_variant M244I 732G>T MALY-DE 22 46544738 46544738 single base substitution A C upstream_gene_variant MALY-DE 22 46547329 46547329 single base substitution C T intron_variant MALY-DE 22 46547329 46547329 single base substitution C T upstream_gene_variant MALY-DE 22 46548774 46548774 single base substitution G A downstream_gene_variant MALY-DE 22 46548774 46548774 single base substitution G A intron_variant MALY-DE 22 46563671 46563671 single base substitution C A intron_variant MALY-DE 22 46563671 46563671 single base substitution C A upstream_gene_variant MALY-DE 22 46567254 46567254 single base substitution G A exon_variant MALY-DE 22 46567254 46567254 single base substitution G A intron_variant MALY-DE 22 46570088 46570089 deletion of <=200bp AG - intron_variant MALY-DE 22 46570088 46570089 deletion of <=200bp AG - upstream_gene_variant MALY-DE 22 46571066 46571066 single base substitution G A intron_variant MALY-DE 22 46571066 46571066 single base substitution G A upstream_gene_variant MALY-DE 22 46576803 46576803 single base substitution C T intron_variant MALY-DE 22 46601391 46601391 single base substitution A G intron_variant MALY-DE 22 46602643 46602643 single base substitution C A intron_variant MALY-DE 22 46604779 46604779 single base substitution T A intron_variant MALY-DE 22 46604812 46604812 single base substitution T C intron_variant MALY-DE 22 46630851 46630851 single base substitution C G intron_variant MALY-DE 22 46631668 46631668 deletion of <=200bp C - 3_prime_UTR_variant MALY-DE 22 46631668 46631668 deletion of <=200bp C - downstream_gene_variant MALY-DE 22 46636571 46636571 single base substitution G T 3_prime_UTR_variant MALY-DE 22 46637803 46637803 single base substitution A G 3_prime_UTR_variant MELA-AU 22 46541715 46541715 single base substitution G A upstream_gene_variant MELA-AU 22 46541745 46541745 single base substitution C T upstream_gene_variant MELA-AU 22 46541797 46541797 single base substitution G A upstream_gene_variant MELA-AU 22 46541902 46541902 single base substitution C T upstream_gene_variant MELA-AU 22 46542195 46542195 single base substitution G A upstream_gene_variant MELA-AU 22 46542348 46542348 single base substitution A G upstream_gene_variant MELA-AU 22 46543091 46543091 single base substitution C T upstream_gene_variant MELA-AU 22 46543645 46543645 single base substitution C T upstream_gene_variant MELA-AU 22 46545335 46545335 single base substitution G A upstream_gene_variant MELA-AU 22 46545677 46545677 single base substitution G A upstream_gene_variant MELA-AU 22 46550435 46550435 single base substitution C T downstream_gene_variant MELA-AU 22 46550435 46550435 single base substitution C T intron_variant MELA-AU 22 46550489 46550489 single base substitution C T downstream_gene_variant MELA-AU 22 46550489 46550489 single base substitution C T intron_variant MELA-AU 22 46550666 46550666 single base substitution C T downstream_gene_variant MELA-AU 22 46550666 46550666 single base substitution C T intron_variant MELA-AU 22 46551296 46551296 single base substitution G A downstream_gene_variant MELA-AU 22 46551296 46551296 single base substitution G A intron_variant MELA-AU 22 46551754 46551754 single base substitution C T downstream_gene_variant MELA-AU 22 46551754 46551754 single base substitution C T intron_variant MELA-AU 22 46552407 46552408 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 46552407 46552408 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 22 46552407 46552408 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 46552579 46552579 single base substitution C T downstream_gene_variant MELA-AU 22 46552579 46552579 single base substitution C T intron_variant MELA-AU 22 46553755 46553755 single base substitution C T downstream_gene_variant MELA-AU 22 46553755 46553755 single base substitution C T intron_variant MELA-AU 22 46554633 46554634 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 46554633 46554634 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 46555505 46555505 single base substitution G A downstream_gene_variant MELA-AU 22 46555505 46555505 single base substitution G A intron_variant MELA-AU 22 46556199 46556199 single base substitution C T downstream_gene_variant MELA-AU 22 46556199 46556199 single base substitution C T intron_variant MELA-AU 22 46556719 46556719 single base substitution C G downstream_gene_variant MELA-AU 22 46556719 46556719 single base substitution C G intron_variant MELA-AU 22 46556721 46556721 single base substitution C T downstream_gene_variant MELA-AU 22 46556721 46556721 single base substitution C T intron_variant MELA-AU 22 46556856 46556856 single base substitution C T downstream_gene_variant MELA-AU 22 46556856 46556856 single base substitution C T intron_variant MELA-AU 22 46557404 46557404 single base substitution G A downstream_gene_variant MELA-AU 22 46557404 46557404 single base substitution G A intron_variant MELA-AU 22 46557465 46557465 single base substitution C A downstream_gene_variant MELA-AU 22 46557465 46557465 single base substitution C A intron_variant MELA-AU 22 46557589 46557589 single base substitution C T intron_variant MELA-AU 22 46557713 46557713 single base substitution C T intron_variant MELA-AU 22 46557777 46557777 single base substitution C T intron_variant MELA-AU 22 46557907 46557907 single base substitution C T intron_variant MELA-AU 22 46557929 46557929 single base substitution C T intron_variant MELA-AU 22 46557935 46557935 single base substitution C T intron_variant MELA-AU 22 46558286 46558286 single base substitution C T intron_variant MELA-AU 22 46558535 46558536 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 22 46559098 46559098 single base substitution C T intron_variant MELA-AU 22 46559163 46559163 single base substitution G A intron_variant MELA-AU 22 46559523 46559523 single base substitution C T intron_variant MELA-AU 22 46560404 46560404 single base substitution G T intron_variant MELA-AU 22 46560965 46560965 single base substitution C T intron_variant MELA-AU 22 46561668 46561668 single base substitution C T intron_variant MELA-AU 22 46561669 46561669 single base substitution C T intron_variant MELA-AU 22 46561704 46561704 single base substitution A G intron_variant MELA-AU 22 46562032 46562032 single base substitution C T intron_variant MELA-AU 22 46562326 46562326 single base substitution G A intron_variant MELA-AU 22 46562326 46562326 single base substitution G A upstream_gene_variant MELA-AU 22 46562400 46562400 single base substitution C T intron_variant MELA-AU 22 46562400 46562400 single base substitution C T upstream_gene_variant MELA-AU 22 46563029 46563029 single base substitution G A intron_variant MELA-AU 22 46563029 46563029 single base substitution G A upstream_gene_variant MELA-AU 22 46563885 46563885 single base substitution G A intron_variant MELA-AU 22 46563885 46563885 single base substitution G A upstream_gene_variant MELA-AU 22 46563896 46563896 single base substitution A G intron_variant MELA-AU 22 46563896 46563896 single base substitution A G upstream_gene_variant MELA-AU 22 46563961 46563961 single base substitution G A intron_variant MELA-AU 22 46563961 46563961 single base substitution G A upstream_gene_variant MELA-AU 22 46565222 46565222 single base substitution C T intron_variant MELA-AU 22 46565222 46565222 single base substitution C T upstream_gene_variant MELA-AU 22 46565258 46565258 single base substitution C T intron_variant MELA-AU 22 46565258 46565258 single base substitution C T upstream_gene_variant MELA-AU 22 46565391 46565391 single base substitution C T intron_variant MELA-AU 22 46565391 46565391 single base substitution C T upstream_gene_variant MELA-AU 22 46565651 46565651 single base substitution G A intron_variant MELA-AU 22 46565651 46565651 single base substitution G A upstream_gene_variant MELA-AU 22 46565700 46565700 single base substitution G A intron_variant MELA-AU 22 46565700 46565700 single base substitution G A upstream_gene_variant MELA-AU 22 46566796 46566796 single base substitution C T intron_variant MELA-AU 22 46566796 46566796 single base substitution C T upstream_gene_variant MELA-AU 22 46567211 46567211 single base substitution G A exon_variant MELA-AU 22 46567211 46567211 single base substitution G A intron_variant MELA-AU 22 46567211 46567211 single base substitution G A upstream_gene_variant MELA-AU 22 46567272 46567272 single base substitution C T exon_variant MELA-AU 22 46567272 46567272 single base substitution C T intron_variant MELA-AU 22 46568105 46568105 single base substitution C T intron_variant MELA-AU 22 46568105 46568105 single base substitution C T upstream_gene_variant MELA-AU 22 46568273 46568273 single base substitution C T intron_variant MELA-AU 22 46568273 46568273 single base substitution C T upstream_gene_variant MELA-AU 22 46568376 46568376 single base substitution A G intron_variant MELA-AU 22 46568376 46568376 single base substitution A G upstream_gene_variant MELA-AU 22 46568438 46568438 single base substitution C T intron_variant MELA-AU 22 46568438 46568438 single base substitution C T upstream_gene_variant MELA-AU 22 46568738 46568738 single base substitution C A intron_variant MELA-AU 22 46568738 46568738 single base substitution C A upstream_gene_variant MELA-AU 22 46570296 46570296 single base substitution T A intron_variant MELA-AU 22 46570296 46570296 single base substitution T A upstream_gene_variant MELA-AU 22 46570538 46570538 single base substitution A T intron_variant MELA-AU 22 46570538 46570538 single base substitution A T upstream_gene_variant MELA-AU 22 46570640 46570640 single base substitution G A intron_variant MELA-AU 22 46570640 46570640 single base substitution G A upstream_gene_variant MELA-AU 22 46570754 46570754 single base substitution C T intron_variant MELA-AU 22 46570754 46570754 single base substitution C T upstream_gene_variant MELA-AU 22 46570898 46570898 single base substitution T C intron_variant MELA-AU 22 46570898 46570898 single base substitution T C upstream_gene_variant MELA-AU 22 46571695 46571695 single base substitution C T intron_variant MELA-AU 22 46571695 46571695 single base substitution C T upstream_gene_variant MELA-AU 22 46572376 46572376 single base substitution C T intron_variant MELA-AU 22 46572376 46572376 single base substitution C T upstream_gene_variant MELA-AU 22 46574060 46574060 single base substitution G A intron_variant MELA-AU 22 46575532 46575532 single base substitution C T intron_variant MELA-AU 22 46575604 46575604 single base substitution C T intron_variant MELA-AU 22 46575622 46575622 single base substitution C T intron_variant MELA-AU 22 46576326 46576326 single base substitution T A intron_variant MELA-AU 22 46576645 46576645 single base substitution C T intron_variant MELA-AU 22 46576839 46576839 single base substitution C T intron_variant MELA-AU 22 46576932 46576932 single base substitution C T intron_variant MELA-AU 22 46577149 46577149 single base substitution C T intron_variant MELA-AU 22 46577684 46577684 single base substitution T C intron_variant MELA-AU 22 46577766 46577766 single base substitution C T intron_variant MELA-AU 22 46578273 46578273 single base substitution C T intron_variant MELA-AU 22 46578758 46578758 single base substitution C T intron_variant MELA-AU 22 46579460 46579460 single base substitution G A intron_variant MELA-AU 22 46579672 46579672 single base substitution T G intron_variant MELA-AU 22 46579875 46579875 single base substitution C T intron_variant MELA-AU 22 46580823 46580823 single base substitution G A intron_variant MELA-AU 22 46580891 46580891 single base substitution C T intron_variant MELA-AU 22 46580984 46580984 single base substitution C T intron_variant MELA-AU 22 46581006 46581006 single base substitution C T intron_variant MELA-AU 22 46581022 46581022 single base substitution C T intron_variant MELA-AU 22 46581358 46581358 single base substitution T C intron_variant MELA-AU 22 46581508 46581508 single base substitution C G intron_variant MELA-AU 22 46581595 46581595 single base substitution C A intron_variant MELA-AU 22 46582291 46582291 single base substitution C T intron_variant MELA-AU 22 46583192 46583192 single base substitution C T intron_variant MELA-AU 22 46583244 46583244 single base substitution C T intron_variant MELA-AU 22 46583430 46583430 single base substitution C T intron_variant MELA-AU 22 46583465 46583465 single base substitution T G intron_variant MELA-AU 22 46583945 46583945 single base substitution G T intron_variant MELA-AU 22 46584250 46584250 single base substitution C T intron_variant MELA-AU 22 46584287 46584287 single base substitution C T intron_variant MELA-AU 22 46584597 46584597 single base substitution C T intron_variant MELA-AU 22 46584612 46584612 single base substitution C T intron_variant MELA-AU 22 46584612 46584612 single base substitution C T splice_region_variant MELA-AU 22 46585500 46585500 single base substitution C T intron_variant MELA-AU 22 46586367 46586367 single base substitution C T intron_variant MELA-AU 22 46586558 46586558 single base substitution G A intron_variant MELA-AU 22 46587222 46587222 single base substitution C T intron_variant MELA-AU 22 46587480 46587480 single base substitution C T intron_variant MELA-AU 22 46588008 46588008 insertion of <=200bp - A intron_variant MELA-AU 22 46588056 46588056 single base substitution C T intron_variant MELA-AU 22 46588376 46588376 single base substitution C T intron_variant MELA-AU 22 46589608 46589608 single base substitution G T intron_variant MELA-AU 22 46589608 46589608 single base substitution G T upstream_gene_variant MELA-AU 22 46590675 46590675 single base substitution T A intron_variant MELA-AU 22 46590675 46590675 single base substitution T A upstream_gene_variant MELA-AU 22 46590683 46590683 single base substitution C T intron_variant MELA-AU 22 46590683 46590683 single base substitution C T upstream_gene_variant MELA-AU 22 46590794 46590794 single base substitution T C intron_variant MELA-AU 22 46590794 46590794 single base substitution T C upstream_gene_variant MELA-AU 22 46591036 46591036 single base substitution G T intron_variant MELA-AU 22 46591036 46591036 single base substitution G T upstream_gene_variant MELA-AU 22 46591711 46591711 single base substitution C T intron_variant MELA-AU 22 46591711 46591711 single base substitution C T upstream_gene_variant MELA-AU 22 46591757 46591757 single base substitution G A intron_variant MELA-AU 22 46591757 46591757 single base substitution G A upstream_gene_variant MELA-AU 22 46592499 46592499 single base substitution C T intron_variant MELA-AU 22 46592499 46592499 single base substitution C T upstream_gene_variant MELA-AU 22 46593583 46593583 single base substitution G A intron_variant MELA-AU 22 46593583 46593583 single base substitution G A upstream_gene_variant MELA-AU 22 46594231 46594231 single base substitution C T intron_variant MELA-AU 22 46594231 46594231 single base substitution C T splice_region_variant MELA-AU 22 46594231 46594231 single base substitution C T upstream_gene_variant MELA-AU 22 46594277 46594277 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 22 46594277 46594277 single base substitution C T exon_variant MELA-AU 22 46594277 46594277 single base substitution C T upstream_gene_variant MELA-AU 22 46594461 46594461 single base substitution C T downstream_gene_variant MELA-AU 22 46594461 46594461 single base substitution C T exon_variant MELA-AU 22 46594461 46594461 single base substitution C T missense_variant P61S 181C>T MELA-AU 22 46594667 46594667 single base substitution C T downstream_gene_variant MELA-AU 22 46594667 46594667 single base substitution C T intron_variant MELA-AU 22 46596054 46596054 single base substitution C T downstream_gene_variant MELA-AU 22 46596054 46596054 single base substitution C T intron_variant MELA-AU 22 46596335 46596335 single base substitution C T downstream_gene_variant MELA-AU 22 46596335 46596335 single base substitution C T intron_variant MELA-AU 22 46596727 46596727 single base substitution G A downstream_gene_variant MELA-AU 22 46596727 46596727 single base substitution G A intron_variant MELA-AU 22 46597797 46597797 single base substitution T G downstream_gene_variant MELA-AU 22 46597797 46597797 single base substitution T G intron_variant MELA-AU 22 46598018 46598018 single base substitution C T downstream_gene_variant MELA-AU 22 46598018 46598018 single base substitution C T intron_variant MELA-AU 22 46598533 46598533 single base substitution C T downstream_gene_variant MELA-AU 22 46598533 46598533 single base substitution C T intron_variant MELA-AU 22 46599682 46599682 single base substitution C T intron_variant MELA-AU 22 46599706 46599706 single base substitution C T intron_variant MELA-AU 22 46599854 46599854 single base substitution C T intron_variant MELA-AU 22 46599899 46599899 single base substitution C T intron_variant MELA-AU 22 46599922 46599922 single base substitution C T intron_variant MELA-AU 22 46600374 46600374 single base substitution C T intron_variant MELA-AU 22 46600531 46600531 single base substitution C T intron_variant MELA-AU 22 46601237 46601237 single base substitution C T intron_variant MELA-AU 22 46602107 46602109 multiple base substitution (>=2bp and <=200bp) TCC CTA intron_variant MELA-AU 22 46603117 46603117 single base substitution C T intron_variant MELA-AU 22 46603281 46603281 single base substitution C T intron_variant MELA-AU 22 46603299 46603299 single base substitution C T intron_variant MELA-AU 22 46603378 46603378 single base substitution C T intron_variant MELA-AU 22 46603468 46603468 single base substitution C T intron_variant MELA-AU 22 46603687 46603687 single base substitution C T intron_variant MELA-AU 22 46604194 46604194 single base substitution C T intron_variant MELA-AU 22 46604469 46604469 single base substitution C T intron_variant MELA-AU 22 46604574 46604574 single base substitution C T intron_variant MELA-AU 22 46604843 46604843 single base substitution C T intron_variant MELA-AU 22 46605148 46605148 single base substitution G T intron_variant MELA-AU 22 46605320 46605320 single base substitution C T intron_variant MELA-AU 22 46605497 46605497 single base substitution C T intron_variant MELA-AU 22 46606143 46606143 single base substitution T C intron_variant MELA-AU 22 46607154 46607154 single base substitution C T intron_variant MELA-AU 22 46607310 46607310 single base substitution C T intron_variant MELA-AU 22 46607335 46607335 single base substitution C T intron_variant MELA-AU 22 46607617 46607617 single base substitution C T intron_variant MELA-AU 22 46607914 46607914 single base substitution C T intron_variant MELA-AU 22 46609143 46609143 single base substitution C T intron_variant MELA-AU 22 46609596 46609596 single base substitution C T intron_variant MELA-AU 22 46610366 46610366 single base substitution C T intron_variant MELA-AU 22 46610593 46610593 single base substitution C T intron_variant MELA-AU 22 46611001 46611001 single base substitution C T intron_variant MELA-AU 22 46611088 46611088 single base substitution C T exon_variant MELA-AU 22 46611088 46611088 single base substitution C T missense_variant S76L 227C>T MELA-AU 22 46611091 46611091 deletion of <=200bp G - exon_variant MELA-AU 22 46611091 46611091 deletion of <=200bp G - frameshift_variant S77 MELA-AU 22 46611094 46611094 single base substitution C T exon_variant MELA-AU 22 46611094 46611094 single base substitution C T missense_variant P78L 233C>T MELA-AU 22 46611576 46611576 single base substitution T C downstream_gene_variant MELA-AU 22 46611576 46611576 single base substitution T C intron_variant MELA-AU 22 46612029 46612029 single base substitution C T downstream_gene_variant MELA-AU 22 46612029 46612029 single base substitution C T intron_variant MELA-AU 22 46612380 46612380 single base substitution C T downstream_gene_variant MELA-AU 22 46612380 46612380 single base substitution C T intron_variant MELA-AU 22 46612473 46612473 single base substitution C T downstream_gene_variant MELA-AU 22 46612473 46612473 single base substitution C T intron_variant MELA-AU 22 46612591 46612591 single base substitution C T downstream_gene_variant MELA-AU 22 46612591 46612591 single base substitution C T intron_variant MELA-AU 22 46612741 46612741 single base substitution C T downstream_gene_variant MELA-AU 22 46612741 46612741 single base substitution C T intron_variant MELA-AU 22 46613031 46613031 single base substitution C T downstream_gene_variant MELA-AU 22 46613031 46613031 single base substitution C T intron_variant MELA-AU 22 46613106 46613106 single base substitution C T downstream_gene_variant MELA-AU 22 46613106 46613106 single base substitution C T intron_variant MELA-AU 22 46613142 46613142 single base substitution C T downstream_gene_variant MELA-AU 22 46613142 46613142 single base substitution C T intron_variant MELA-AU 22 46613145 46613146 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 46613145 46613146 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 46614480 46614480 single base substitution C T downstream_gene_variant MELA-AU 22 46614480 46614480 single base substitution C T intron_variant MELA-AU 22 46614706 46614706 single base substitution G A downstream_gene_variant MELA-AU 22 46614706 46614706 single base substitution G A intron_variant MELA-AU 22 46615052 46615052 single base substitution C T downstream_gene_variant MELA-AU 22 46615052 46615052 single base substitution C T intron_variant MELA-AU 22 46615555 46615555 single base substitution C T downstream_gene_variant MELA-AU 22 46615555 46615555 single base substitution C T intron_variant MELA-AU 22 46615695 46615695 single base substitution C T downstream_gene_variant MELA-AU 22 46615695 46615695 single base substitution C T intron_variant MELA-AU 22 46615966 46615966 single base substitution G A downstream_gene_variant MELA-AU 22 46615966 46615966 single base substitution G A exon_variant MELA-AU 22 46615966 46615966 single base substitution G A intron_variant MELA-AU 22 46616302 46616302 single base substitution C T exon_variant MELA-AU 22 46616302 46616302 single base substitution C T intron_variant MELA-AU 22 46616741 46616741 single base substitution T A downstream_gene_variant MELA-AU 22 46616741 46616741 single base substitution T A intron_variant MELA-AU 22 46616869 46616869 single base substitution C T downstream_gene_variant MELA-AU 22 46616869 46616869 single base substitution C T intron_variant MELA-AU 22 46617445 46617445 single base substitution C T downstream_gene_variant MELA-AU 22 46617445 46617445 single base substitution C T intron_variant MELA-AU 22 46618603 46618603 single base substitution T A downstream_gene_variant MELA-AU 22 46618603 46618603 single base substitution T A intron_variant MELA-AU 22 46618912 46618913 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 22 46618912 46618913 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 22 46618913 46618913 single base substitution C T downstream_gene_variant MELA-AU 22 46618913 46618913 single base substitution C T intron_variant MELA-AU 22 46619007 46619007 single base substitution C T downstream_gene_variant MELA-AU 22 46619007 46619007 single base substitution C T intron_variant MELA-AU 22 46619060 46619060 single base substitution C T downstream_gene_variant MELA-AU 22 46619060 46619060 single base substitution C T intron_variant MELA-AU 22 46619644 46619644 single base substitution C T downstream_gene_variant MELA-AU 22 46619644 46619644 single base substitution C T intron_variant MELA-AU 22 46619818 46619818 single base substitution G T downstream_gene_variant MELA-AU 22 46619818 46619818 single base substitution G T intron_variant MELA-AU 22 46620439 46620439 single base substitution C T downstream_gene_variant MELA-AU 22 46620439 46620439 single base substitution C T intron_variant MELA-AU 22 46620948 46620948 single base substitution C T downstream_gene_variant MELA-AU 22 46620948 46620948 single base substitution C T intron_variant MELA-AU 22 46621440 46621440 single base substitution G A downstream_gene_variant MELA-AU 22 46621440 46621440 single base substitution G A intron_variant MELA-AU 22 46622653 46622653 single base substitution C T intron_variant MELA-AU 22 46623061 46623061 single base substitution C T intron_variant MELA-AU 22 46623113 46623113 single base substitution C T intron_variant MELA-AU 22 46623616 46623616 single base substitution C T intron_variant MELA-AU 22 46624148 46624148 single base substitution C T intron_variant MELA-AU 22 46624519 46624519 single base substitution G A intron_variant MELA-AU 22 46624749 46624749 single base substitution C T intron_variant MELA-AU 22 46624827 46624827 single base substitution C T intron_variant MELA-AU 22 46624928 46624928 single base substitution C T intron_variant MELA-AU 22 46624978 46624978 single base substitution T G intron_variant MELA-AU 22 46625202 46625202 single base substitution G A intron_variant MELA-AU 22 46625479 46625479 single base substitution C T intron_variant MELA-AU 22 46625951 46625951 single base substitution T C intron_variant MELA-AU 22 46626455 46626455 single base substitution C T intron_variant MELA-AU 22 46626927 46626927 single base substitution C T intron_variant MELA-AU 22 46629375 46629375 single base substitution G A intron_variant MELA-AU 22 46629491 46629491 single base substitution A G intron_variant MELA-AU 22 46630962 46630963 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 46631345 46631345 single base substitution G C 3_prime_UTR_variant MELA-AU 22 46631345 46631345 single base substitution G C downstream_gene_variant MELA-AU 22 46631426 46631426 single base substitution T A 3_prime_UTR_variant MELA-AU 22 46631426 46631426 single base substitution T A downstream_gene_variant MELA-AU 22 46631428 46631428 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46631428 46631428 single base substitution C T downstream_gene_variant MELA-AU 22 46631625 46631625 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46631625 46631625 single base substitution C T downstream_gene_variant MELA-AU 22 46632223 46632223 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46632223 46632223 single base substitution C T downstream_gene_variant MELA-AU 22 46632328 46632328 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46632328 46632328 single base substitution C T downstream_gene_variant MELA-AU 22 46632610 46632610 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46632610 46632610 single base substitution C T downstream_gene_variant MELA-AU 22 46633468 46633468 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46633468 46633468 single base substitution C T downstream_gene_variant MELA-AU 22 46633489 46633489 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46633489 46633489 single base substitution C T downstream_gene_variant MELA-AU 22 46633718 46633718 single base substitution G A 3_prime_UTR_variant MELA-AU 22 46633718 46633718 single base substitution G A downstream_gene_variant MELA-AU 22 46634451 46634451 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46634451 46634451 single base substitution C T downstream_gene_variant MELA-AU 22 46634903 46634903 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46634903 46634903 single base substitution C T downstream_gene_variant MELA-AU 22 46635360 46635360 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46635360 46635360 single base substitution C T downstream_gene_variant MELA-AU 22 46636223 46636223 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46636223 46636223 single base substitution C T downstream_gene_variant MELA-AU 22 46636711 46636711 single base substitution T C 3_prime_UTR_variant MELA-AU 22 46637973 46637973 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46638143 46638144 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 22 46638365 46638365 single base substitution A G 3_prime_UTR_variant MELA-AU 22 46638776 46638776 single base substitution G A 3_prime_UTR_variant MELA-AU 22 46639322 46639322 single base substitution C T 3_prime_UTR_variant MELA-AU 22 46639760 46639761 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 46640545 46640545 single base substitution G A downstream_gene_variant MELA-AU 22 46640956 46640956 single base substitution G A downstream_gene_variant MELA-AU 22 46641066 46641066 single base substitution G A downstream_gene_variant MELA-AU 22 46641514 46641515 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 46641588 46641588 single base substitution G A downstream_gene_variant MELA-AU 22 46644304 46644304 single base substitution C T downstream_gene_variant ORCA-IN 22 46568322 46568322 single base substitution T C intron_variant ORCA-IN 22 46568322 46568322 single base substitution T C upstream_gene_variant ORCA-IN 22 46614234 46614234 single base substitution G C downstream_gene_variant ORCA-IN 22 46614234 46614234 single base substitution G C exon_variant ORCA-IN 22 46614234 46614234 single base substitution G C missense_variant K148N 444G>C ORCA-IN 22 46628123 46628123 single base substitution C T 3_prime_UTR_variant ORCA-IN 22 46628123 46628123 single base substitution C T synonymous_variant I382I 1146C>T OV-AU 22 46553709 46553709 single base substitution T A downstream_gene_variant OV-AU 22 46553709 46553709 single base substitution T A intron_variant OV-AU 22 46569631 46569631 single base substitution C G intron_variant OV-AU 22 46569631 46569631 single base substitution C G upstream_gene_variant OV-AU 22 46582890 46582890 single base substitution G C intron_variant OV-AU 22 46587014 46587014 single base substitution C G intron_variant OV-AU 22 46616599 46616599 single base substitution G A downstream_gene_variant OV-AU 22 46616599 46616599 single base substitution G A intron_variant OV-AU 22 46617403 46617403 single base substitution G A downstream_gene_variant OV-AU 22 46617403 46617403 single base substitution G A intron_variant OV-AU 22 46623471 46623471 single base substitution G T intron_variant OV-AU 22 46627458 46627458 single base substitution A C intron_variant OV-AU 22 46636719 46636719 single base substitution C T 3_prime_UTR_variant OV-AU 22 46639039 46639039 single base substitution C A 3_prime_UTR_variant OV-AU 22 46642765 46642765 single base substitution A T downstream_gene_variant OV-AU 22 46643505 46643505 single base substitution G A downstream_gene_variant OV-AU 22 46643672 46643672 single base substitution T G downstream_gene_variant OV-US 22 46594453 46594453 single base substitution G C downstream_gene_variant OV-US 22 46594453 46594453 single base substitution G C exon_variant OV-US 22 46594453 46594453 single base substitution G C missense_variant G58A 173G>C PACA-AU 22 46541604 46541604 single base substitution C G upstream_gene_variant PACA-AU 22 46545199 46545199 single base substitution G C upstream_gene_variant PACA-AU 22 46551429 46551429 single base substitution C T downstream_gene_variant PACA-AU 22 46551429 46551429 single base substitution C T intron_variant PACA-AU 22 46554682 46554682 single base substitution T C downstream_gene_variant PACA-AU 22 46554682 46554682 single base substitution T C intron_variant PACA-AU 22 46558981 46558999 deletion of <=200bp GCAGAGGGGAAAGAGCGGG - intron_variant PACA-AU 22 46560618 46560618 single base substitution A G intron_variant PACA-AU 22 46562530 46562530 single base substitution A C intron_variant PACA-AU 22 46562530 46562530 single base substitution A C upstream_gene_variant PACA-AU 22 46565385 46565385 single base substitution C T intron_variant PACA-AU 22 46565385 46565385 single base substitution C T upstream_gene_variant PACA-AU 22 46576655 46576655 single base substitution C A intron_variant PACA-AU 22 46578286 46578286 single base substitution C T intron_variant PACA-AU 22 46580292 46580292 single base substitution C G intron_variant PACA-AU 22 46582286 46582286 single base substitution C A intron_variant PACA-AU 22 46587384 46587384 single base substitution T G intron_variant PACA-AU 22 46588893 46588893 single base substitution G A intron_variant PACA-AU 22 46600991 46600991 single base substitution A G intron_variant PACA-AU 22 46608469 46608469 single base substitution T C intron_variant PACA-AU 22 46609305 46609305 single base substitution T C intron_variant PACA-AU 22 46611511 46611511 single base substitution C T downstream_gene_variant PACA-AU 22 46611511 46611511 single base substitution C T intron_variant PACA-AU 22 46620168 46620168 single base substitution C T downstream_gene_variant PACA-AU 22 46620168 46620168 single base substitution C T intron_variant PACA-CA 22 46542143 46542143 single base substitution A T upstream_gene_variant PACA-CA 22 46542368 46542368 single base substitution A G upstream_gene_variant PACA-CA 22 46545305 46545305 single base substitution T A upstream_gene_variant PACA-CA 22 46551283 46551283 single base substitution C T downstream_gene_variant PACA-CA 22 46551283 46551283 single base substitution C T intron_variant PACA-CA 22 46555393 46555393 single base substitution G A downstream_gene_variant PACA-CA 22 46555393 46555393 single base substitution G A intron_variant PACA-CA 22 46556277 46556277 single base substitution T C downstream_gene_variant PACA-CA 22 46556277 46556277 single base substitution T C intron_variant PACA-CA 22 46559002 46559002 single base substitution C T intron_variant PACA-CA 22 46559979 46559979 single base substitution G A intron_variant PACA-CA 22 46561778 46561778 single base substitution C T intron_variant PACA-CA 22 46568474 46568474 single base substitution C T intron_variant PACA-CA 22 46568474 46568474 single base substitution C T upstream_gene_variant PACA-CA 22 46569425 46569425 single base substitution G A intron_variant PACA-CA 22 46569425 46569425 single base substitution G A upstream_gene_variant PACA-CA 22 46569713 46569713 single base substitution G A intron_variant PACA-CA 22 46569713 46569713 single base substitution G A upstream_gene_variant PACA-CA 22 46574191 46574191 single base substitution G T intron_variant PACA-CA 22 46575595 46575595 insertion of <=200bp - A intron_variant PACA-CA 22 46576794 46576794 single base substitution A T intron_variant PACA-CA 22 46577530 46577530 single base substitution T G intron_variant PACA-CA 22 46577884 46577884 single base substitution C T intron_variant PACA-CA 22 46578734 46578734 single base substitution C T intron_variant PACA-CA 22 46584664 46584664 single base substitution C T 5_prime_UTR_variant PACA-CA 22 46584664 46584664 single base substitution C T exon_variant PACA-CA 22 46584664 46584664 single base substitution C T intron_variant PACA-CA 22 46584696 46584696 single base substitution C T 5_prime_UTR_variant PACA-CA 22 46584696 46584696 single base substitution C T exon_variant PACA-CA 22 46584696 46584696 single base substitution C T intron_variant PACA-CA 22 46586508 46586508 single base substitution G C intron_variant PACA-CA 22 46590882 46590882 single base substitution C A intron_variant PACA-CA 22 46590882 46590882 single base substitution C A upstream_gene_variant PACA-CA 22 46591420 46591420 single base substitution T C intron_variant PACA-CA 22 46591420 46591420 single base substitution T C upstream_gene_variant PACA-CA 22 46592043 46592043 single base substitution G C intron_variant PACA-CA 22 46592043 46592043 single base substitution G C upstream_gene_variant PACA-CA 22 46597940 46597940 single base substitution G T downstream_gene_variant PACA-CA 22 46597940 46597940 single base substitution G T intron_variant PACA-CA 22 46602189 46602189 single base substitution A G intron_variant PACA-CA 22 46604112 46604112 single base substitution A G intron_variant PACA-CA 22 46608150 46608150 single base substitution C T intron_variant PACA-CA 22 46610360 46610360 single base substitution G T intron_variant PACA-CA 22 46611749 46611749 single base substitution C T downstream_gene_variant PACA-CA 22 46611749 46611749 single base substitution C T intron_variant PACA-CA 22 46614330 46614330 single base substitution T C downstream_gene_variant PACA-CA 22 46614330 46614330 single base substitution T C intron_variant PACA-CA 22 46615314 46615314 single base substitution G A downstream_gene_variant PACA-CA 22 46615314 46615314 single base substitution G A intron_variant PACA-CA 22 46619871 46619871 single base substitution G T downstream_gene_variant PACA-CA 22 46619871 46619871 single base substitution G T intron_variant PACA-CA 22 46621421 46621421 single base substitution C G downstream_gene_variant PACA-CA 22 46621421 46621421 single base substitution C G intron_variant PACA-CA 22 46621611 46621611 single base substitution C T intron_variant PACA-CA 22 46624104 46624104 single base substitution G A intron_variant PACA-CA 22 46627632 46627632 single base substitution G C intron_variant PACA-CA 22 46629290 46629290 single base substitution C T intron_variant PACA-CA 22 46637908 46637908 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 22 46640244 46640244 single base substitution C T downstream_gene_variant PACA-CA 22 46640385 46640385 single base substitution T C downstream_gene_variant PAEN-AU 22 46549268 46549268 single base substitution C T downstream_gene_variant PAEN-AU 22 46549268 46549268 single base substitution C T intron_variant PAEN-AU 22 46551270 46551270 single base substitution C T downstream_gene_variant PAEN-AU 22 46551270 46551270 single base substitution C T intron_variant PAEN-AU 22 46587524 46587524 single base substitution C T intron_variant PAEN-IT 22 46638961 46638961 single base substitution C A 3_prime_UTR_variant PBCA-DE 22 46542329 46542329 single base substitution G A upstream_gene_variant PBCA-DE 22 46542330 46542330 single base substitution A G upstream_gene_variant PBCA-DE 22 46542353 46542353 single base substitution A G upstream_gene_variant PBCA-DE 22 46542358 46542358 single base substitution A G upstream_gene_variant PBCA-DE 22 46555702 46555702 single base substitution G A downstream_gene_variant PBCA-DE 22 46555702 46555702 single base substitution G A intron_variant PBCA-DE 22 46584821 46584823 deletion of <=200bp TCT - intron_variant PBCA-DE 22 46600735 46600735 deletion of <=200bp A - intron_variant PBCA-DE 22 46618041 46618041 single base substitution G T downstream_gene_variant PBCA-DE 22 46618041 46618041 single base substitution G T intron_variant PBCA-DE 22 46619276 46619276 insertion of <=200bp - ATGCTT downstream_gene_variant PBCA-DE 22 46619276 46619276 insertion of <=200bp - ATGCTT intron_variant PBCA-DE 22 46628164 46628164 single base substitution T A intron_variant PBCA-DE 22 46628710 46628710 insertion of <=200bp - A intron_variant PBCA-DE 22 46639957 46639957 single base substitution G T downstream_gene_variant PRAD-CA 22 46542363 46542363 single base substitution A G upstream_gene_variant PRAD-CA 22 46559885 46559885 single base substitution C T intron_variant PRAD-CA 22 46568852 46568852 single base substitution T G intron_variant PRAD-CA 22 46568852 46568852 single base substitution T G upstream_gene_variant PRAD-CA 22 46588218 46588218 single base substitution C T intron_variant PRAD-CA 22 46591845 46591845 single base substitution G A intron_variant PRAD-CA 22 46591845 46591845 single base substitution G A upstream_gene_variant PRAD-CA 22 46634018 46634018 single base substitution C G 3_prime_UTR_variant PRAD-CA 22 46634018 46634018 single base substitution C G downstream_gene_variant PRAD-CA 22 46643133 46643133 single base substitution A G downstream_gene_variant PRAD-CA 22 46643133 46643133 single base substitution A T downstream_gene_variant PRAD-UK 22 46551977 46551977 single base substitution G A downstream_gene_variant PRAD-UK 22 46551977 46551977 single base substitution G A intron_variant PRAD-UK 22 46562290 46562290 single base substitution G A intron_variant PRAD-UK 22 46562290 46562290 single base substitution G A upstream_gene_variant PRAD-UK 22 46574979 46574979 single base substitution C G intron_variant PRAD-UK 22 46575586 46575586 single base substitution T C intron_variant PRAD-UK 22 46583722 46583722 single base substitution G C intron_variant PRAD-UK 22 46606083 46606083 single base substitution G A intron_variant PRAD-UK 22 46614887 46614887 single base substitution C T downstream_gene_variant PRAD-UK 22 46614887 46614887 single base substitution C T intron_variant PRAD-UK 22 46626208 46626208 single base substitution C G intron_variant PRAD-UK 22 46627928 46627928 single base substitution A G 3_prime_UTR_variant PRAD-UK 22 46627928 46627928 single base substitution A G missense_variant I317M 951A>G PRAD-US 22 46611177 46611177 single base substitution G A exon_variant PRAD-US 22 46611177 46611177 single base substitution G A missense_variant G106R 316G>A PRAD-US 22 46614283 46614283 single base substitution G A downstream_gene_variant PRAD-US 22 46614283 46614283 single base substitution G A exon_variant PRAD-US 22 46614283 46614283 single base substitution G A missense_variant G165R 493G>A PRAD-US 22 46643050 46643050 single base substitution C T downstream_gene_variant READ-US 22 46594368 46594368 single base substitution G T downstream_gene_variant READ-US 22 46594368 46594368 single base substitution G T exon_variant READ-US 22 46594368 46594368 single base substitution G T stop_gained E30* 88G>T READ-US 22 46627869 46627869 single base substitution G A 3_prime_UTR_variant READ-US 22 46627869 46627869 single base substitution G A missense_variant A298T 892G>A RECA-EU 22 46544038 46544038 single base substitution C T upstream_gene_variant RECA-EU 22 46550099 46550099 single base substitution C T downstream_gene_variant RECA-EU 22 46550099 46550099 single base substitution C T intron_variant RECA-EU 22 46551225 46551225 single base substitution T C downstream_gene_variant RECA-EU 22 46551225 46551225 single base substitution T C intron_variant RECA-EU 22 46551832 46551832 single base substitution G A downstream_gene_variant RECA-EU 22 46551832 46551832 single base substitution G A intron_variant RECA-EU 22 46558272 46558272 single base substitution C A intron_variant RECA-EU 22 46563362 46563362 single base substitution G A intron_variant RECA-EU 22 46563362 46563362 single base substitution G A upstream_gene_variant RECA-EU 22 46576257 46576257 single base substitution C T intron_variant RECA-EU 22 46582627 46582627 single base substitution A T intron_variant RECA-EU 22 46583555 46583555 single base substitution T G intron_variant RECA-EU 22 46584337 46584337 single base substitution T C intron_variant RECA-EU 22 46585497 46585497 single base substitution T C intron_variant RECA-EU 22 46590489 46590489 single base substitution G A intron_variant RECA-EU 22 46590489 46590489 single base substitution G A upstream_gene_variant RECA-EU 22 46591465 46591465 single base substitution G A intron_variant RECA-EU 22 46591465 46591465 single base substitution G A upstream_gene_variant RECA-EU 22 46592436 46592436 single base substitution C G intron_variant RECA-EU 22 46592436 46592436 single base substitution C G upstream_gene_variant RECA-EU 22 46597969 46597969 single base substitution G A downstream_gene_variant RECA-EU 22 46597969 46597969 single base substitution G A intron_variant RECA-EU 22 46612588 46612588 single base substitution C A downstream_gene_variant RECA-EU 22 46612588 46612588 single base substitution C A intron_variant RECA-EU 22 46622033 46622033 single base substitution C T intron_variant RECA-EU 22 46629834 46629834 single base substitution C T intron_variant RECA-EU 22 46643832 46643832 single base substitution T C downstream_gene_variant SKCA-BR 22 46542292 46542329 deletion of <=200bp AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAGAG - upstream_gene_variant SKCA-BR 22 46542292 46542339 deletion of <=200bp AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAGAGAAGAGAAGAG - upstream_gene_variant SKCA-BR 22 46542297 46542324 deletion of <=200bp GAAGAGAAGAGAAGAGAAGAGAAGAGAA - upstream_gene_variant SKCA-BR 22 46542322 46542324 deletion of <=200bp GAA - upstream_gene_variant SKCA-BR 22 46542324 46542324 insertion of <=200bp - AGAGAG upstream_gene_variant SKCA-BR 22 46542329 46542329 single base substitution G A upstream_gene_variant SKCA-BR 22 46546316 46546316 single base substitution G A upstream_gene_variant SKCA-BR 22 46546773 46546785 deletion of <=200bp CCGAGGACTCTTG - exon_variant SKCA-BR 22 46546773 46546785 deletion of <=200bp CCGAGGACTCTTG - intron_variant SKCA-BR 22 46546773 46546785 deletion of <=200bp CCGAGGACTCTTG - upstream_gene_variant SKCA-BR 22 46548235 46548235 single base substitution T G downstream_gene_variant SKCA-BR 22 46548235 46548235 single base substitution T G intron_variant SKCA-BR 22 46549361 46549361 single base substitution C T downstream_gene_variant SKCA-BR 22 46549361 46549361 single base substitution C T intron_variant SKCA-BR 22 46551631 46551631 single base substitution G A downstream_gene_variant SKCA-BR 22 46551631 46551631 single base substitution G A intron_variant SKCA-BR 22 46553377 46553377 single base substitution C T downstream_gene_variant SKCA-BR 22 46553377 46553377 single base substitution C T intron_variant SKCA-BR 22 46556058 46556058 single base substitution A G downstream_gene_variant SKCA-BR 22 46556058 46556058 single base substitution A G intron_variant SKCA-BR 22 46558327 46558327 single base substitution A C intron_variant SKCA-BR 22 46566932 46566932 single base substitution T G intron_variant SKCA-BR 22 46566932 46566932 single base substitution T G upstream_gene_variant SKCA-BR 22 46569091 46569091 single base substitution G T intron_variant SKCA-BR 22 46569091 46569091 single base substitution G T upstream_gene_variant SKCA-BR 22 46569096 46569096 single base substitution T G intron_variant SKCA-BR 22 46569096 46569096 single base substitution T G upstream_gene_variant SKCA-BR 22 46569103 46569103 single base substitution C T intron_variant SKCA-BR 22 46569103 46569103 single base substitution C T upstream_gene_variant SKCA-BR 22 46569116 46569116 single base substitution G T intron_variant SKCA-BR 22 46569116 46569116 single base substitution G T upstream_gene_variant SKCA-BR 22 46569120 46569120 single base substitution A G intron_variant SKCA-BR 22 46569120 46569120 single base substitution A G upstream_gene_variant SKCA-BR 22 46570087 46570087 insertion of <=200bp - AAG intron_variant SKCA-BR 22 46570087 46570087 insertion of <=200bp - AAG upstream_gene_variant SKCA-BR 22 46570163 46570163 single base substitution G A intron_variant SKCA-BR 22 46570163 46570163 single base substitution G A upstream_gene_variant SKCA-BR 22 46572528 46572528 single base substitution G A intron_variant SKCA-BR 22 46572528 46572528 single base substitution G A upstream_gene_variant SKCA-BR 22 46573723 46573723 single base substitution C T intron_variant SKCA-BR 22 46576125 46576125 single base substitution C T intron_variant SKCA-BR 22 46576366 46576366 single base substitution C T intron_variant SKCA-BR 22 46580917 46580917 single base substitution C T intron_variant SKCA-BR 22 46581855 46581863 deletion of <=200bp TATATATAC - intron_variant SKCA-BR 22 46581859 46581863 deletion of <=200bp TATAC - intron_variant SKCA-BR 22 46581863 46581863 single base substitution C T intron_variant SKCA-BR 22 46583445 46583445 single base substitution C T intron_variant SKCA-BR 22 46587383 46587383 single base substitution T C intron_variant SKCA-BR 22 46588142 46588142 single base substitution T C intron_variant SKCA-BR 22 46590694 46590694 single base substitution C T intron_variant SKCA-BR 22 46590694 46590694 single base substitution C T upstream_gene_variant SKCA-BR 22 46591697 46591697 single base substitution A C intron_variant SKCA-BR 22 46591697 46591697 single base substitution A C upstream_gene_variant SKCA-BR 22 46592402 46592402 single base substitution C G intron_variant SKCA-BR 22 46592402 46592402 single base substitution C G upstream_gene_variant SKCA-BR 22 46594089 46594089 single base substitution T C intron_variant SKCA-BR 22 46594089 46594089 single base substitution T C upstream_gene_variant SKCA-BR 22 46594638 46594638 single base substitution G A downstream_gene_variant SKCA-BR 22 46594638 46594638 single base substitution G A intron_variant SKCA-BR 22 46596055 46596055 single base substitution C T downstream_gene_variant SKCA-BR 22 46596055 46596055 single base substitution C T intron_variant SKCA-BR 22 46598975 46598975 single base substitution C G downstream_gene_variant SKCA-BR 22 46598975 46598975 single base substitution C G intron_variant SKCA-BR 22 46599705 46599705 single base substitution C T intron_variant SKCA-BR 22 46599706 46599706 single base substitution C T intron_variant SKCA-BR 22 46601450 46601451 deletion of <=200bp TA - intron_variant SKCA-BR 22 46601453 46601453 single base substitution T A intron_variant SKCA-BR 22 46603134 46603134 single base substitution G A intron_variant SKCA-BR 22 46603889 46603889 single base substitution C T intron_variant SKCA-BR 22 46604444 46604445 deletion of <=200bp CA - intron_variant SKCA-BR 22 46606702 46606702 single base substitution C T intron_variant SKCA-BR 22 46607212 46607212 single base substitution C T intron_variant SKCA-BR 22 46609095 46609095 single base substitution C T intron_variant SKCA-BR 22 46612396 46612396 single base substitution G A downstream_gene_variant SKCA-BR 22 46612396 46612396 single base substitution G A intron_variant SKCA-BR 22 46612397 46612397 single base substitution G A downstream_gene_variant SKCA-BR 22 46612397 46612397 single base substitution G A intron_variant SKCA-BR 22 46617529 46617529 single base substitution C T downstream_gene_variant SKCA-BR 22 46617529 46617529 single base substitution C T intron_variant SKCA-BR 22 46618089 46618089 single base substitution T C downstream_gene_variant SKCA-BR 22 46618089 46618089 single base substitution T C intron_variant SKCA-BR 22 46618151 46618151 single base substitution C T downstream_gene_variant SKCA-BR 22 46618151 46618151 single base substitution C T intron_variant SKCA-BR 22 46618351 46618351 single base substitution C T downstream_gene_variant SKCA-BR 22 46618351 46618351 single base substitution C T intron_variant SKCA-BR 22 46624755 46624755 single base substitution A T intron_variant SKCA-BR 22 46631923 46631923 single base substitution A G 3_prime_UTR_variant SKCA-BR 22 46631923 46631923 single base substitution A G downstream_gene_variant SKCA-BR 22 46633507 46633508 deletion of <=200bp CA - 3_prime_UTR_variant SKCA-BR 22 46633507 46633508 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 22 46634594 46634594 single base substitution A G 3_prime_UTR_variant SKCA-BR 22 46634594 46634594 single base substitution A G downstream_gene_variant SKCA-BR 22 46637252 46637252 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 46638564 46638564 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 46638628 46638628 insertion of <=200bp - GCA 3_prime_UTR_variant SKCA-BR 22 46638953 46638953 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 46642142 46642142 single base substitution A C downstream_gene_variant SKCA-BR 22 46642813 46642813 single base substitution C T downstream_gene_variant SKCA-BR 22 46643054 46643054 single base substitution G A downstream_gene_variant SKCA-BR 22 46643132 46643132 single base substitution A G downstream_gene_variant SKCM-US 22 46594430 46594430 single base substitution C T downstream_gene_variant SKCM-US 22 46594430 46594430 single base substitution C T exon_variant SKCM-US 22 46594430 46594430 single base substitution C T synonymous_variant G50G 150C>T SKCM-US 22 46594462 46594462 single base substitution C T downstream_gene_variant SKCM-US 22 46594462 46594462 single base substitution C T exon_variant SKCM-US 22 46594462 46594462 single base substitution C T missense_variant P61L 182C>T SKCM-US 22 46611088 46611088 single base substitution C T exon_variant SKCM-US 22 46611088 46611088 single base substitution C T missense_variant S76L 227C>T SKCM-US 22 46614165 46614165 single base substitution C T downstream_gene_variant SKCM-US 22 46614165 46614165 single base substitution C T exon_variant SKCM-US 22 46614165 46614165 single base substitution C T synonymous_variant F125F 375C>T SKCM-US 22 46614211 46614211 single base substitution C T downstream_gene_variant SKCM-US 22 46614211 46614211 single base substitution C T exon_variant SKCM-US 22 46614211 46614211 single base substitution C T missense_variant R141C 421C>T SKCM-US 22 46614225 46614225 single base substitution C T downstream_gene_variant SKCM-US 22 46614225 46614225 single base substitution C T exon_variant SKCM-US 22 46614225 46614225 single base substitution C T synonymous_variant I145I 435C>T SKCM-US 22 46614265 46614265 single base substitution C T downstream_gene_variant SKCM-US 22 46614265 46614265 single base substitution C T exon_variant SKCM-US 22 46614265 46614265 single base substitution C T missense_variant H159Y 475C>T SKCM-US 22 46615714 46615714 single base substitution C T downstream_gene_variant SKCM-US 22 46615714 46615714 single base substitution C T exon_variant SKCM-US 22 46615714 46615714 single base substitution C T intron_variant SKCM-US 22 46615714 46615714 single base substitution C T missense_variant R172C 514C>T SKCM-US 22 46615854 46615854 single base substitution C T downstream_gene_variant SKCM-US 22 46615854 46615854 single base substitution C T exon_variant SKCM-US 22 46615854 46615854 single base substitution C T intron_variant SKCM-US 22 46615854 46615854 single base substitution C T synonymous_variant F218F 654C>T SKCM-US 22 46627847 46627847 single base substitution C T 3_prime_UTR_variant SKCM-US 22 46627847 46627847 single base substitution C T synonymous_variant F290F 870C>T SKCM-US 22 46628007 46628007 single base substitution C T 3_prime_UTR_variant SKCM-US 22 46628007 46628007 single base substitution C T synonymous_variant L344L 1030C>T SKCM-US 22 46628055 46628055 single base substitution G C 3_prime_UTR_variant SKCM-US 22 46628055 46628055 single base substitution G C missense_variant D360H 1078G>C SKCM-US 22 46628087 46628087 single base substitution G A 3_prime_UTR_variant SKCM-US 22 46628087 46628087 single base substitution G A synonymous_variant L370L 1110G>A SKCM-US 22 46631032 46631032 single base substitution C T missense_variant R388C 1162C>T SKCM-US 22 46631032 46631032 single base substitution C T splice_region_variant SKCM-US 22 46641032 46641032 single base substitution G A downstream_gene_variant SKCM-US 22 46644127 46644127 single base substitution T C downstream_gene_variant STAD-US 22 46611162 46611162 single base substitution G A exon_variant STAD-US 22 46611162 46611162 single base substitution G A missense_variant E101K 301G>A STAD-US 22 46611192 46611192 single base substitution G T exon_variant STAD-US 22 46611192 46611192 single base substitution G T missense_variant G111C 331G>T STAD-US 22 46614282 46614282 single base substitution C T downstream_gene_variant STAD-US 22 46614282 46614282 single base substitution C T exon_variant STAD-US 22 46614282 46614282 single base substitution C T synonymous_variant V164V 492C>T STAD-US 22 46627911 46627911 single base substitution G A 3_prime_UTR_variant STAD-US 22 46627911 46627911 single base substitution G A missense_variant G312R 934G>A STAD-US 22 46631044 46631044 single base substitution C A 3_prime_UTR_variant STAD-US 22 46631044 46631044 single base substitution C A missense_variant L392I 1174C>A STAD-US 22 46640993 46640993 single base substitution G A downstream_gene_variant STAD-US 22 46643046 46643046 single base substitution C T downstream_gene_variant STAD-US 22 46644115 46644115 single base substitution G A downstream_gene_variant THCA-SA 22 46633199 46633199 single base substitution G T 3_prime_UTR_variant THCA-SA 22 46633199 46633199 single base substitution G T downstream_gene_variant THCA-SA 22 46635599 46635599 single base substitution G A 3_prime_UTR_variant THCA-SA 22 46635599 46635599 single base substitution G A downstream_gene_variant THCA-SA 22 46636470 46636470 single base substitution C T 3_prime_UTR_variant THCA-SA 22 46637239 46637239 single base substitution T C 3_prime_UTR_variant THCA-SA 22 46637254 46637254 single base substitution G A 3_prime_UTR_variant THCA-SA 22 46640638 46640638 single base substitution G A downstream_gene_variant THCA-US 22 46643010 46643010 single base substitution G A downstream_gene_variant UCEC-US 22 46611074 46611074 single base substitution G A exon_variant UCEC-US 22 46611074 46611074 single base substitution G A synonymous_variant T71T 213G>A UCEC-US 22 46614186 46614186 single base substitution C A downstream_gene_variant UCEC-US 22 46614186 46614186 single base substitution C A exon_variant UCEC-US 22 46614186 46614186 single base substitution C A synonymous_variant L132L 396C>A UCEC-US 22 46614297 46614297 single base substitution C T downstream_gene_variant UCEC-US 22 46614297 46614297 single base substitution C T splice_region_variant UCEC-US 22 46627847 46627847 single base substitution C T 3_prime_UTR_variant UCEC-US 22 46627847 46627847 single base substitution C T synonymous_variant F290F 870C>T UCEC-US 22 46627961 46627961 single base substitution C T 3_prime_UTR_variant UCEC-US 22 46627961 46627961 single base substitution C T synonymous_variant D328D 984C>T UCEC-US 22 46628131 46628131 single base substitution G A 3_prime_UTR_variant UCEC-US 22 46628131 46628131 single base substitution G A missense_variant C385Y 1154G>A UCEC-US 22 46642638 46642638 single base substitution C A downstream_gene_variant UCEC-US 22 46643047 46643047 single base substitution G A downstream_gene_variant UCEC-US 22 46643085 46643085 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_60_A COSM5859577 c.812G>A p.R271H Substitution - Missense 22:46231892-46231892 + C086 COSM4716820 c.1260C>T p.I420I Substitution - coding silent 22:46235233-46235233 + ICGC_0028 COSM1158886 c.420_422delCCG p.R141delR Deletion - In frame 22:46218313-46218315 + T3262 COSM4716819 c.1192_1193insA p.M400fs*>70 Insertion - Frameshift 22:46235165-46235166 + TCGA-FW-A3R5-06 COSM3912994 c.654C>T p.F218F Substitution - coding silent 22:46219957-46219957 + 4436_PT COSM5755777 c.273C>G p.D91E Substitution - Missense 22:46215237-46215237 + HCT116 COSM3063391 c.933C>T p.Y311Y Substitution - coding silent 22:46232013-46232013 + TCGA-22-4591-01 COSM726838 c.273C>T p.D91D Substitution - coding silent 22:46215237-46215237 + ESO-536 COSM1262802 c.48C>T p.A16A Substitution - coding silent 22:46198431-46198431 + TCGA-AX-A0J1-01 COSM1035108 c.1154G>A p.C385Y Substitution - Missense 22:46232234-46232234 + DLD1 COSM4624739 c.219A>G p.S73S Substitution - coding silent 22:46215183-46215183 + TCGA-G4-6302-01 COSM3063381 c.353C>T p.A118V Substitution - Missense 22:46215317-46215317 + TCGA-EB-A299-01 COSM3555410 c.1030C>T p.L344L Substitution - coding silent 22:46232110-46232110 + P82 COSM1736297 c.523C>T p.R175* Substitution - Nonsense 22:46219826-46219826 + TCGA-F5-6814-01 COSM3424236 c.88G>T p.E30* Substitution - Nonsense 22:46198471-46198471 + TCGA-A1-A0SH-01 COSM445120 c.1365_1367delGCT p.L456delL Deletion - In frame 22:46235338-46235340 + PTC-28C COSM4156386 c.1154G>C p.C385S Substitution - Missense 22:46232234-46232234 + TCGA-EJ-8474-01 COSM3783569 c.316G>A p.G106R Substitution - Missense 22:46215280-46215280 + 114 COSM5013699 c.317G>C p.G106A Substitution - Missense 22:46215281-46215281 + SC_9021 COSM5571132 c.850G>C p.V284L Substitution - Missense 22:46231930-46231930 + T2197 COSM4524958 c.12G>A p.T4T Substitution - coding silent 22:46198395-46198395 + CHEWS023 COSM4582475 c.1282_1283insA p.M430fs*>40 Insertion - Frameshift 22:46235255-46235256 + TCGA-EE-A29M-06 COSM3063396 c.1162C>T p.R388C Substitution - Missense 22:46235135-46235135 + ESCC_146 COSM5644697 c.1336A>G p.I446V Substitution - Missense 22:46235309-46235309 + SJDOSTEOS012 COSM5760243 c.676C>T p.R226W Substitution - Missense 22:46219979-46219979 + HCC25T COSM1616560 c.837G>T p.T279T Substitution - coding silent 22:46231917-46231917 + 61 COSM5742168 c.836C>T p.T279M Substitution - Missense 22:46231916-46231916 + RK190_C01 COSM3740469 c.67T>G p.L23V Substitution - Missense 22:46198450-46198450 + TCGA-14-0865 COSM2154999 c.740T>A p.L247Q Substitution - Missense 22:46231820-46231820 + TCGA-G3-A25Z-01 COSM4922090 c.511A>C p.I171L Substitution - Missense 22:46219814-46219814 + TCGA-C5-A1BQ-01 COSM3063396 c.1162C>T p.R388C Substitution - Missense 22:46235135-46235135 + Br27P COSM40489 c.1073A>G p.K358R Substitution - Missense 22:46232153-46232153 + cSCCP8 COSM140891 c.514C>T p.R172C Substitution - Missense 22:46219817-46219817 + TCGA-AA-3492-01 COSM1416828 c.268G>A p.V90M Substitution - Missense 22:46215232-46215232 + 420 COSM4432096 c.443A>G p.K148R Substitution - Missense 22:46218336-46218336 + SH-0034 COSM5018709 c.373T>A p.F125I Substitution - Missense 22:46218266-46218266 + 1N39-VS-1T39 COSM4459794 c.113C>T p.S38L Substitution - Missense 22:46198496-46198496 + CSCC-10-T COSM140891 c.514C>T p.R172C Substitution - Missense 22:46219817-46219817 + 13T COSM3713713 c.444G>C p.K148N Substitution - Missense 22:46218337-46218337 + 0051_CRUK_PC_0051_T1_DNA COSM5422200 c.951A>G p.I317M Substitution - Missense 22:46232031-46232031 + CSCC-47-T COSM4524958 c.12G>A p.T4T Substitution - coding silent 22:46198395-46198395 + TCGA-KK-A59V-01 COSM4878551 c.493G>A p.G165R Substitution - Missense 22:46218386-46218386 + CSCC-7-T COSM4459794 c.113C>T p.S38L Substitution - Missense 22:46198496-46198496 + TCGA-B5-A0JY-01 COSM1035107 c.870C>T p.F290F Substitution - coding silent 22:46231950-46231950 + TCGA-EE-A3AE-06 COSM3555407 c.421C>T p.R141C Substitution - Missense 22:46218314-46218314 + TCGA-AO-A1KT-01 COSM1484291 c.990G>T p.M330I Substitution - Missense 22:46232070-46232070 + TCGA-AP-A0LM-01 COSM479081 c.984C>T p.D328D Substitution - coding silent 22:46232064-46232064 + TCGA-EE-A181-06 COSM3555408 c.435C>T p.I145I Substitution - coding silent 22:46218328-46218328 + TCGA-BR-4362-01 COSM4104814 c.331G>T p.G111C Substitution - Missense 22:46215295-46215295 + TCGA-AZ-6601-01 COSM1416829 c.383G>A p.R128Q Substitution - Missense 22:46218276-46218276 + HCC25 COSM1616560 c.837G>T p.T279T Substitution - coding silent 22:46231917-46231917 + HN_62854 COSM125513 c.58G>C p.E20Q Substitution - Missense 22:46198441-46198441 + 4436_CLM COSM5755777 c.273C>G p.D91E Substitution - Missense 22:46215237-46215237 + 2T COSM3718613 c.1146C>T p.I382I Substitution - coding silent 22:46232226-46232226 + PT53 COSM5941437 c.589G>A p.D197N Substitution - Missense 22:46219892-46219892 + TCGA-BF-A3DM-01 COSM1035107 c.870C>T p.F290F Substitution - coding silent 22:46231950-46231950 + 587238 COSM1221631 c.11C>T p.T4M Substitution - Missense 22:46198394-46198394 + BD121T COSM580370 c.510G>A p.A170A Substitution - coding silent 22:46219813-46219813 + QC2-03-T2 COSM5651851 c.488C>T p.S163F Substitution - Missense 22:46218381-46218381 + OSCC-GB_00130111 COSM3713713 c.444G>C p.K148N Substitution - Missense 22:46218337-46218337 + TCGA-CG-5728-01 COSM4104817 c.1174C>A p.L392I Substitution - Missense 22:46235147-46235147 + TCGA-06-5414-01 COSM3405719 c.124G>A p.G42S Substitution - Missense 22:46198507-46198507 + TCGA-AD-6965-01 COSM1416827 c.228G>A p.S76S Substitution - coding silent 22:46215192-46215192 + TCGA-D3-A51J-06 COSM140891 c.514C>T p.R172C Substitution - Missense 22:46219817-46219817 + TCGA-DA-A1HY-06 COSM3555412 c.1110G>A p.L370L Substitution - coding silent 22:46232190-46232190 + YUKAT COSM5393842 c.161A>G p.Y54C Substitution - Missense 22:46198544-46198544 + T2269 COSM4716820 c.1260C>T p.I420I Substitution - coding silent 22:46235233-46235233 + TCGA-DA-A1I7-06 COSM3555406 c.375C>T p.F125F Substitution - coding silent 22:46218268-46218268 + 522_T COSM3964398 c.50G>A p.G17D Substitution - Missense 22:46198433-46198433 + TCGA-AC-A23H-01 COSM3842855 c.1091A>C p.K364T Substitution - Missense 22:46232171-46232171 + TCGA-F5-6814-01 COSM3424237 c.892G>A p.A298T Substitution - Missense 22:46231972-46231972 + TCGA-AP-A0LP-01 COSM1035106 c.507C>T p.N169N Substitution - coding silent 22:46218400-46218400 + 8015562 COSM1158886 c.420_422delCCG p.R141delR Deletion - In frame 22:46218313-46218315 + T3088 COSM4716818 c.954C>T p.F318F Substitution - coding silent 22:46232034-46232034 + TCGA-14-0865 COSM2154998 c.741G>C p.L247L Substitution - coding silent 22:46231821-46231821 + TCGA-D3-A1QB-06 COSM3063380 c.227C>T p.S76L Substitution - Missense 22:46215191-46215191 + T3262 COSM4716821 c.1349C>T p.T450M Substitution - Missense 22:46235322-46235322 + Gp2D COSM3063400 c.1283delA p.M430fs*8 Deletion - Frameshift 22:46235256-46235256 + 3N38-VS-3T38 COSM4981390 c.609C>G p.L203L Substitution - coding silent 22:46219912-46219912 + TCGA-EE-A3AG-06 COSM3555405 c.182C>T p.P61L Substitution - Missense 22:46198565-46198565 + 61 COSM5742167 c.352G>A p.A118T Substitution - Missense 22:46215316-46215316 + 585208 COSM326217 c.913C>G p.Q305E Substitution - Missense 22:46231993-46231993 + RMS110_ COSM4987221 c.484C>G p.L162V Substitution - Missense 22:46218377-46218377 + OSCC-GB_00020111 COSM3718613 c.1146C>T p.I382I Substitution - coding silent 22:46232226-46232226 + TCGA-BS-A0TC-01 COSM1035105 c.396C>A p.L132L Substitution - coding silent 22:46218289-46218289 + TCGA-CG-5721-01 COSM4104815 c.492C>T p.V164V Substitution - coding silent 22:46218385-46218385 + Gp5D COSM3063380 c.227C>T p.S76L Substitution - Missense 22:46215191-46215191 + T2197 COSM4716817 c.262G>A p.G88S Substitution - Missense 22:46215226-46215226 + ME009T COSM224105 c.287G>A p.G96E Substitution - Missense 22:46215251-46215251 + TCGA-EE-A2M5-06 COSM3063380 c.227C>T p.S76L Substitution - Missense 22:46215191-46215191 + LUAD-YINHD COSM350335 c.538G>C p.E180Q Substitution - Missense 22:46219841-46219841 + TCGA-CW-5588-01 COSM479081 c.984C>T p.D328D Substitution - coding silent 22:46232064-46232064 + TCGA-EE-A2GU-06 COSM3555409 c.475C>T p.H159Y Substitution - Missense 22:46218368-46218368 + 08-P1004 COSM4582474 c.1251G>A p.P417P Substitution - coding silent 22:46235224-46235224 + TCGA-AN-A046-01 COSM3842854 c.533G>T p.R178I Substitution - Missense 22:46219836-46219836 + 201 COSM3723148 c.421C>A p.R141S Substitution - Missense 22:46218314-46218314 + 041T COSM1729315 c.464A>G p.Y155C Substitution - Missense 22:46218357-46218357 + TCGA-13-0894-01 COSM76020 c.173G>C p.G58A Substitution - Missense 22:46198556-46198556 + Gp5D COSM3063400 c.1283delA p.M430fs*8 Deletion - Frameshift 22:46235256-46235256 + TCGA-AX-A0J1-01 COSM1035104 c.213G>A p.T71T Substitution - coding silent 22:46215177-46215177 + Gp2D COSM3063380 c.227C>T p.S76L Substitution - Missense 22:46215191-46215191 + TCGA-F4-6856-01 COSM1416830 c.583_584delAT p.I195fs*4 Deletion - Frameshift 22:46219886-46219887 + BD124T COSM3555407 c.421C>T p.R141C Substitution - Missense 22:46218314-46218314 + TCGA-18-3421-01 COSM726837 c.732G>T p.M244I Substitution - Missense 22:46231812-46231812 + CSCC-31-T COSM140891 c.514C>T p.R172C Substitution - Missense 22:46219817-46219817 + TCGA-IH-A3EA-01 COSM3555411 c.1078G>C p.D360H Substitution - Missense 22:46232158-46232158 + T2417 COSM4716816 c.191delA p.D64fs*18 Deletion - Frameshift 22:46198574-46198574 + ESCC_8 COSM5623496 c.406_407delTA p.Y136fs*1 Deletion - Frameshift 22:46218299-46218300 + TCGA-FS-A1ZW-06 COSM3555404 c.150C>T p.G50G Substitution - coding silent 22:46198533-46198533 + TCGA-HU-8602-01 COSM4104816 c.934G>A p.G312R Substitution - Missense 22:46232014-46232014 + 386-01-4TD COSM5418902 c.575A>T p.E192V Substitution - Missense 22:46219878-46219878 + TCGA-CG-4442-01 COSM4104813 c.301G>A p.E101K Substitution - Missense 22:46215265-46215265 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.103110 22q13.31 170998 Hs.710040;Hs.710041;Hs.710042;Hs.710044 22q13.31 170998

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K358R c.1073A>G 22 46628050 GBM A G Missense p.M320V c.958A>G 22 46627935 THCA C A Missense p.L392I c.1174C>A 22 46631044 STAD C A Nonsense p.S66* c.197C>A 22 46594477 CM C A Synonymous p.L132L c.396C>A 22 46614186 UCEC C G Missense p.Q305E c.913C>G 22 46627890 SCLC C T Missense p.H159Y c.475C>T 22 46614265 CM C T Missense p.P61L c.182C>T 22 46594462 CM C T Missense p.R141C c.421C>T 22 46614211 CM C T Missense p.R388C c.1162C>T 22 46631032 CM C T Missense p.S76L c.227C>T 22 46611088 CM C T Synonymous p.A16A c.48C>T 22 46594328 ESCA C T Synonymous p.D91D c.273C>T 22 46611134 LUSC C T Synonymous p.F125F c.375C>T 22 46614165 CM C T Synonymous p.F290F c.870C>T 22 46627847 CM C T Synonymous p.G50G c.150C>T 22 46594430 CM C T Synonymous p.I145I c.435C>T 22 46614225 CM C T Synonymous p.L344L c.1030C>T 22 46628007 CM C T Synonymous p.N169N c.507C>T 22 46614297 UCEC C T Synonymous p.P94P c.282C>T 22 46611143 LUAD G A Missense p.G106R c.316G>A 22 46611177 PRAD G A Missense p.G42S c.124G>A 22 46594404 GBM G A Missense p.G96E c.287G>A 22 46611148 CM G A Synonymous p.A170A c.510G>A 22 46615710 LUAD G A Synonymous p.K148K c.444G>A 22 46614234 CM G A Synonymous p.L370L c.1110G>A 22 46628087 CM G C Missense p.D360H c.1078G>C 22 46628055 CM G C Missense p.E20Q c.58G>C 22 46594338 HNSC G C Missense p.G58A c.173G>C 22 46594453 OV GCT - InFrameDeletion p.L456delL c.1367_1369delTGC 22 46631235 BRCA G - Frameshift p.G17Afs*3 c.50delG 22 46594329 LUAD G T Missense p.M244I c.732G>T 22 46627709 LUSC G T Missense p.M330I c.990G>T 22 46627967 BRCA G T Missense p.R178I c.533G>T 22 46615733 BRCA T G IntronicSNV . c.1-28465T>G 22 46565816 CLL