Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 22 19438233 19438233 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr22:19438233C>G c.884G>C c.(883-885)gGa>gCa p.G295A BLCA 22 19443286 19443286 + Missense_Mutation SNP G G C TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr22:19443286G>C c.684C>G c.(682-684)ttC>ttG p.F228L BLCA 22 19459219 19459219 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr22:19459219G>C c.282C>G c.(280-282)ctC>ctG p.L94L BLCA 22 19462610 19462610 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr22:19462610G>A c.150C>T c.(148-150)ccC>ccT p.P50P BRCA 22 19462608 19462608 + Missense_Mutation SNP G G A TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr22:19462608G>A c.152C>T c.(151-153)tCg>tTg p.S51L CESC 22 19442308 19442308 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr22:19442308G>A c.813C>T c.(811-813)atC>atT p.I271I CESC 22 19452740 19452740 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr22:19452740G>C c.480C>G c.(478-480)atC>atG p.I160M CESC 22 19459236 19459236 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr22:19459236C>T c.265G>A c.(265-267)Gag>Aag p.E89K CESC 22 19463100 19463100 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr22:19463100G>C c.29C>G c.(28-30)cCt>cGt p.P10R CHOL 22 19455397 19455397 + Splice_Site SNP C C T TCGA-ZH-A8Y1-01A-11D-A417-09 TCGA-ZH-A8Y1-10A-01D-A41A-09 g.chr22:19455397C>T c.421G>A c.(421-423)Gta>Ata p.V141I COAD 22 19452787 19452787 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:19452787C>T c.433G>A c.(433-435)Gca>Aca p.A145T COADREAD 22 19444434 19444434 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19444434A>C c.572T>G c.(571-573)tTt>tGt p.F191C COADREAD 22 19445656 19445656 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19445656C>T c.502G>A c.(502-504)Gaa>Aaa p.E168K COADREAD 22 19452787 19452787 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:19452787C>T c.433G>A c.(433-435)Gca>Aca p.A145T COADREAD 22 19463072 19463072 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19463072G>T c.57C>A c.(55-57)ttC>ttA p.F19L GBMLGG 22 19452725 19452725 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19452725C>A c.495G>T c.(493-495)aaG>aaT p.K165N HNSC 22 19444407 19444407 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr22:19444407G>A c.599C>T c.(598-600)cCc>cTc p.P200L HNSC 22 19463117 19463117 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr22:19463117G>C c.12C>G c.(10-12)ttC>ttG p.F4L LGG 22 19452725 19452725 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19452725C>A c.495G>T c.(493-495)aaG>aaT p.K165N LIHC 22 19463069 19463069 + Silent SNP G G C TCGA-FV-A496-01A-11D-A25V-10 TCGA-FV-A496-10A-01D-A25V-10 g.chr22:19463069G>C c.60C>G c.(58-60)tcC>tcG p.S20S LUAD 22 19444129 19444129 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr22:19444129G>C c.659C>G c.(658-660)gCt>gGt p.A220G LUAD 22 19455447 19455447 + Missense_Mutation SNP T T C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 g.chr22:19455447T>C c.371A>G c.(370-372)aAa>aGa p.K124R LUAD 22 19455527 19455527 + Splice_Site SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr22:19455527C>T c.e5-1 LUAD 22 19463058 19463058 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 g.chr22:19463058C>T c.71G>A c.(70-72)cGc>cAc p.R24H PAAD 22 19459280 19459280 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:19459280G>A c.221C>T c.(220-222)tCg>tTg p.S74L PRAD 22 19455394 19455394 + Splice_Site SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:19455394A>G c.e5+1 READ 22 19444434 19444434 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19444434A>C c.572T>G c.(571-573)tTt>tGt p.F191C READ 22 19445656 19445656 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19445656C>T c.502G>A c.(502-504)Gaa>Aaa p.E168K READ 22 19463072 19463072 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19463072G>T c.57C>A c.(55-57)ttC>ttA p.F19L SKCM 22 19459311 19459311 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr22:19459311G>A c.190C>T c.(190-192)Ccc>Tcc p.P64S SKCM 22 19463094 19463094 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr22:19463094G>A c.35C>T c.(34-36)cCc>cTc p.P12L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 19471505 19471505 single base substitution G A upstream_gene_variant BLCA-US 22 19459219 19459219 single base substitution G C exon_variant BLCA-US 22 19459219 19459219 single base substitution G C intron_variant BLCA-US 22 19459219 19459219 single base substitution G C synonymous_variant L30L 90C>G BLCA-US 22 19459219 19459219 single base substitution G C synonymous_variant L83L 249C>G BLCA-US 22 19459219 19459219 single base substitution G C synonymous_variant L89L 267C>G BLCA-US 22 19459219 19459219 single base substitution G C synonymous_variant L94L 282C>G BLCA-US 22 19459219 19459219 single base substitution G C upstream_gene_variant BLCA-US 22 19462610 19462610 single base substitution G A exon_variant BLCA-US 22 19462610 19462610 single base substitution G A intron_variant BLCA-US 22 19462610 19462610 single base substitution G A synonymous_variant P45P 135C>T BLCA-US 22 19462610 19462610 single base substitution G A synonymous_variant P50P 150C>T BLCA-US 22 19470241 19470241 single base substitution G C upstream_gene_variant BRCA-EU 22 19432609 19432609 single base substitution C G downstream_gene_variant BRCA-EU 22 19433813 19433813 deletion of <=200bp T - downstream_gene_variant BRCA-EU 22 19434108 19434108 single base substitution C G downstream_gene_variant BRCA-EU 22 19439754 19439754 single base substitution G C downstream_gene_variant BRCA-EU 22 19439754 19439754 single base substitution G C exon_variant BRCA-EU 22 19439754 19439754 single base substitution G C intron_variant BRCA-EU 22 19441763 19441763 single base substitution A C downstream_gene_variant BRCA-EU 22 19441763 19441763 single base substitution A C exon_variant BRCA-EU 22 19441763 19441763 single base substitution A C intron_variant BRCA-EU 22 19443375 19443375 single base substitution G A downstream_gene_variant BRCA-EU 22 19443375 19443375 single base substitution G A intron_variant BRCA-EU 22 19444729 19444729 single base substitution T C intron_variant BRCA-EU 22 19445120 19445120 single base substitution G A intron_variant BRCA-EU 22 19445630 19445630 single base substitution G A exon_variant BRCA-EU 22 19445630 19445630 single base substitution G A synonymous_variant P165P 495C>T BRCA-EU 22 19445630 19445630 single base substitution G A synonymous_variant P176P 528C>T BRCA-EU 22 19445630 19445630 single base substitution G A synonymous_variant P80P 240C>T BRCA-EU 22 19445764 19445764 single base substitution G C intron_variant BRCA-EU 22 19447969 19447969 single base substitution C G downstream_gene_variant BRCA-EU 22 19447969 19447969 single base substitution C G intron_variant BRCA-EU 22 19448860 19448860 single base substitution C A downstream_gene_variant BRCA-EU 22 19448860 19448860 single base substitution C A intron_variant BRCA-EU 22 19449148 19449148 single base substitution C G downstream_gene_variant BRCA-EU 22 19449148 19449148 single base substitution C G intron_variant BRCA-EU 22 19449231 19449231 single base substitution G C downstream_gene_variant BRCA-EU 22 19449231 19449231 single base substitution G C intron_variant BRCA-EU 22 19450193 19450193 deletion of <=200bp A - downstream_gene_variant BRCA-EU 22 19450193 19450193 deletion of <=200bp A - intron_variant BRCA-EU 22 19451222 19451222 single base substitution G C downstream_gene_variant BRCA-EU 22 19451222 19451222 single base substitution G C intron_variant BRCA-EU 22 19452064 19452064 single base substitution C T downstream_gene_variant BRCA-EU 22 19452064 19452064 single base substitution C T intron_variant BRCA-EU 22 19453175 19453175 single base substitution T C downstream_gene_variant BRCA-EU 22 19453175 19453175 single base substitution T C exon_variant BRCA-EU 22 19453175 19453175 single base substitution T C intron_variant BRCA-EU 22 19456628 19456628 single base substitution G C intron_variant BRCA-EU 22 19456628 19456628 single base substitution G C upstream_gene_variant BRCA-EU 22 19457147 19457147 single base substitution G T intron_variant BRCA-EU 22 19457147 19457147 single base substitution G T upstream_gene_variant BRCA-EU 22 19459721 19459721 single base substitution G C intron_variant BRCA-EU 22 19459721 19459721 single base substitution G C upstream_gene_variant BRCA-EU 22 19459960 19459960 single base substitution G T intron_variant BRCA-EU 22 19459960 19459960 single base substitution G T upstream_gene_variant BRCA-EU 22 19460255 19460255 single base substitution C A intron_variant BRCA-EU 22 19466487 19466487 single base substitution G T exon_variant BRCA-EU 22 19466487 19466487 single base substitution G T intron_variant BRCA-EU 22 19466487 19466487 single base substitution G T upstream_gene_variant BRCA-EU 22 19466594 19466594 single base substitution G C exon_variant BRCA-EU 22 19466594 19466594 single base substitution G C intron_variant BRCA-EU 22 19466594 19466594 single base substitution G C upstream_gene_variant BRCA-EU 22 19466836 19466836 single base substitution G T upstream_gene_variant BRCA-EU 22 19469225 19469225 single base substitution C T upstream_gene_variant BRCA-FR 22 19432609 19432609 single base substitution C G downstream_gene_variant BRCA-FR 22 19449148 19449148 single base substitution C G downstream_gene_variant BRCA-FR 22 19449148 19449148 single base substitution C G intron_variant BRCA-FR 22 19456983 19456983 single base substitution G T intron_variant BRCA-FR 22 19456983 19456983 single base substitution G T upstream_gene_variant BRCA-FR 22 19457745 19457745 single base substitution G T intron_variant BRCA-FR 22 19457745 19457745 single base substitution G T upstream_gene_variant BRCA-FR 22 19460255 19460255 single base substitution C A intron_variant BRCA-UK 22 19443375 19443375 single base substitution G A downstream_gene_variant BRCA-UK 22 19443375 19443375 single base substitution G A intron_variant BRCA-UK 22 19459960 19459960 single base substitution G T intron_variant BRCA-UK 22 19459960 19459960 single base substitution G T upstream_gene_variant BRCA-US 22 19462608 19462608 single base substitution G A exon_variant BRCA-US 22 19462608 19462608 single base substitution G A intron_variant BRCA-US 22 19462608 19462608 single base substitution G A missense_variant S46L 137C>T BRCA-US 22 19462608 19462608 single base substitution G A missense_variant S51L 152C>T BTCA-JP 22 19434931 19434931 single base substitution G T downstream_gene_variant BTCA-JP 22 19435276 19435276 single base substitution G A downstream_gene_variant BTCA-JP 22 19456218 19456218 single base substitution C T intron_variant BTCA-JP 22 19456218 19456218 single base substitution C T upstream_gene_variant BTCA-JP 22 19459294 19459294 single base substitution C A exon_variant BTCA-JP 22 19459294 19459294 single base substitution C A intron_variant BTCA-JP 22 19459294 19459294 single base substitution C A synonymous_variant L58L 174G>T BTCA-JP 22 19459294 19459294 single base substitution C A synonymous_variant L5L 15G>T BTCA-JP 22 19459294 19459294 single base substitution C A synonymous_variant L64L 192G>T BTCA-JP 22 19459294 19459294 single base substitution C A synonymous_variant L69L 207G>T BTCA-JP 22 19459294 19459294 single base substitution C A upstream_gene_variant BTCA-JP 22 19466812 19466812 single base substitution A C upstream_gene_variant CESC-US 22 19442308 19442308 single base substitution G A downstream_gene_variant CESC-US 22 19442308 19442308 single base substitution G A exon_variant CESC-US 22 19442308 19442308 single base substitution G A intron_variant CESC-US 22 19442308 19442308 single base substitution G A synonymous_variant I260I 780C>T CESC-US 22 19442308 19442308 single base substitution G A synonymous_variant I271I 813C>T CESC-US 22 19452740 19452740 single base substitution G C downstream_gene_variant CESC-US 22 19452740 19452740 single base substitution G C exon_variant CESC-US 22 19452740 19452740 single base substitution G C missense_variant I149M 447C>G CESC-US 22 19452740 19452740 single base substitution G C missense_variant I160M 480C>G CESC-US 22 19452740 19452740 single base substitution G C missense_variant I64M 192C>G CESC-US 22 19459236 19459236 single base substitution C T exon_variant CESC-US 22 19459236 19459236 single base substitution C T intron_variant CESC-US 22 19459236 19459236 single base substitution C T missense_variant E25K 73G>A CESC-US 22 19459236 19459236 single base substitution C T missense_variant E78K 232G>A CESC-US 22 19459236 19459236 single base substitution C T missense_variant E84K 250G>A CESC-US 22 19459236 19459236 single base substitution C T missense_variant E89K 265G>A CESC-US 22 19459236 19459236 single base substitution C T upstream_gene_variant CESC-US 22 19463100 19463100 single base substitution G C exon_variant CESC-US 22 19463100 19463100 single base substitution G C intron_variant CESC-US 22 19463100 19463100 single base substitution G C missense_variant P10R 29C>G CESC-US 22 19463100 19463100 single base substitution G C missense_variant P5R 14C>G CESC-US 22 19470334 19470334 single base substitution T C upstream_gene_variant CLLE-ES 22 19434062 19434062 single base substitution G A downstream_gene_variant CLLE-ES 22 19462454 19462454 single base substitution G A intron_variant COAD-US 22 19438247 19438247 single base substitution G A 3_prime_UTR_variant COAD-US 22 19438247 19438247 single base substitution G A downstream_gene_variant COAD-US 22 19438247 19438247 single base substitution G A exon_variant COAD-US 22 19438247 19438247 single base substitution G A synonymous_variant F279F 837C>T COAD-US 22 19438247 19438247 single base substitution G A synonymous_variant F290F 870C>T COAD-US 22 19468524 19468524 deletion of <=200bp G - upstream_gene_variant COAD-US 22 19470305 19470305 single base substitution C T upstream_gene_variant COCA-CN 22 19438373 19438373 single base substitution C A downstream_gene_variant COCA-CN 22 19438373 19438373 single base substitution C A exon_variant COCA-CN 22 19438373 19438373 single base substitution C A intron_variant COCA-CN 22 19441742 19441742 single base substitution T C downstream_gene_variant COCA-CN 22 19441742 19441742 single base substitution T C exon_variant COCA-CN 22 19441742 19441742 single base substitution T C intron_variant COCA-CN 22 19452719 19452719 single base substitution G A downstream_gene_variant COCA-CN 22 19452719 19452719 single base substitution G A intron_variant COCA-CN 22 19452719 19452719 single base substitution G A splice_region_variant COCA-CN 22 19455836 19455836 single base substitution A G intron_variant COCA-CN 22 19455836 19455836 single base substitution A G upstream_gene_variant COCA-CN 22 19455871 19455871 single base substitution A C intron_variant COCA-CN 22 19455871 19455871 single base substitution A C upstream_gene_variant COCA-CN 22 19456697 19456697 single base substitution G A intron_variant COCA-CN 22 19456697 19456697 single base substitution G A upstream_gene_variant COCA-CN 22 19466910 19466910 single base substitution G T upstream_gene_variant COCA-CN 22 19467568 19467568 single base substitution C T upstream_gene_variant COCA-CN 22 19471308 19471308 single base substitution A C upstream_gene_variant COCA-CN 22 19471491 19471491 single base substitution G A upstream_gene_variant EOPC-DE 22 19466935 19466935 single base substitution G T upstream_gene_variant ESAD-UK 22 19432781 19432781 single base substitution G C downstream_gene_variant ESAD-UK 22 19436621 19436621 single base substitution G C downstream_gene_variant ESAD-UK 22 19438244 19438244 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 19438244 19438244 single base substitution G A downstream_gene_variant ESAD-UK 22 19438244 19438244 single base substitution G A exon_variant ESAD-UK 22 19438244 19438244 single base substitution G A synonymous_variant V280V 840C>T ESAD-UK 22 19438244 19438244 single base substitution G A synonymous_variant V291V 873C>T ESAD-UK 22 19438258 19438258 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 19438258 19438258 single base substitution C T downstream_gene_variant ESAD-UK 22 19438258 19438258 single base substitution C T exon_variant ESAD-UK 22 19438258 19438258 single base substitution C T missense_variant G276R 826G>A ESAD-UK 22 19438258 19438258 single base substitution C T missense_variant G287R 859G>A ESAD-UK 22 19442433 19442433 single base substitution C T downstream_gene_variant ESAD-UK 22 19442433 19442433 single base substitution C T intron_variant ESAD-UK 22 19443178 19443178 single base substitution T G downstream_gene_variant ESAD-UK 22 19443178 19443178 single base substitution T G intron_variant ESAD-UK 22 19443314 19443314 single base substitution A G downstream_gene_variant ESAD-UK 22 19443314 19443314 single base substitution A G intron_variant ESAD-UK 22 19445106 19445106 single base substitution C T intron_variant ESAD-UK 22 19446053 19446053 single base substitution G A intron_variant ESAD-UK 22 19446964 19446964 single base substitution C T intron_variant ESAD-UK 22 19448549 19448549 single base substitution G A downstream_gene_variant ESAD-UK 22 19448549 19448549 single base substitution G A intron_variant ESAD-UK 22 19449585 19449585 single base substitution C T downstream_gene_variant ESAD-UK 22 19449585 19449585 single base substitution C T intron_variant ESAD-UK 22 19450927 19450927 single base substitution A T downstream_gene_variant ESAD-UK 22 19450927 19450927 single base substitution A T intron_variant ESAD-UK 22 19452321 19452321 single base substitution G A downstream_gene_variant ESAD-UK 22 19452321 19452321 single base substitution G A intron_variant ESAD-UK 22 19453272 19453272 single base substitution C A downstream_gene_variant ESAD-UK 22 19453272 19453272 single base substitution C A exon_variant ESAD-UK 22 19453272 19453272 single base substitution C A intron_variant ESAD-UK 22 19459035 19459035 single base substitution G A intron_variant ESAD-UK 22 19459035 19459035 single base substitution G A upstream_gene_variant ESAD-UK 22 19466808 19466808 single base substitution G A upstream_gene_variant ESCA-CN 22 19438362 19438362 single base substitution A G downstream_gene_variant ESCA-CN 22 19438362 19438362 single base substitution A G exon_variant ESCA-CN 22 19438362 19438362 single base substitution A G intron_variant ESCA-CN 22 19458412 19458412 single base substitution A G intron_variant ESCA-CN 22 19458412 19458412 single base substitution A G upstream_gene_variant KIRC-US 22 19467681 19467681 single base substitution A T upstream_gene_variant KIRP-US 22 19435297 19435299 deletion of <=200bp AGA - downstream_gene_variant LICA-CN 22 19443207 19443207 single base substitution T C downstream_gene_variant LICA-CN 22 19443207 19443207 single base substitution T C exon_variant LICA-CN 22 19443207 19443207 single base substitution T C missense_variant K159E 475A>G LICA-CN 22 19443207 19443207 single base substitution T C missense_variant K244E 730A>G LICA-CN 22 19443207 19443207 single base substitution T C missense_variant K255E 763A>G LICA-FR 22 19468519 19468519 single base substitution T G upstream_gene_variant LIHC-US 22 19463069 19463069 single base substitution G C exon_variant LIHC-US 22 19463069 19463069 single base substitution G C intron_variant LIHC-US 22 19463069 19463069 single base substitution G C synonymous_variant S15S 45C>G LIHC-US 22 19463069 19463069 single base substitution G C synonymous_variant S20S 60C>G LIHC-US 22 19471437 19471437 single base substitution A G upstream_gene_variant LINC-JP 22 19435250 19435250 single base substitution G C downstream_gene_variant LINC-JP 22 19438283 19438283 single base substitution A C downstream_gene_variant LINC-JP 22 19438283 19438283 single base substitution A C exon_variant LINC-JP 22 19438283 19438283 single base substitution A C intron_variant LINC-JP 22 19452044 19452044 single base substitution T C downstream_gene_variant LINC-JP 22 19452044 19452044 single base substitution T C intron_variant LINC-JP 22 19458586 19458586 single base substitution A T intron_variant LINC-JP 22 19458586 19458586 single base substitution A T upstream_gene_variant LINC-JP 22 19467485 19467485 single base substitution C A upstream_gene_variant LIRI-JP 22 19432960 19432960 single base substitution A C downstream_gene_variant LIRI-JP 22 19433225 19433225 single base substitution T C downstream_gene_variant LIRI-JP 22 19433603 19433603 single base substitution G C downstream_gene_variant LIRI-JP 22 19435638 19435638 single base substitution A G downstream_gene_variant LIRI-JP 22 19442212 19442212 single base substitution C T downstream_gene_variant LIRI-JP 22 19442212 19442212 single base substitution C T exon_variant LIRI-JP 22 19442212 19442212 single base substitution C T intron_variant LIRI-JP 22 19442260 19442260 single base substitution A C downstream_gene_variant LIRI-JP 22 19442260 19442260 single base substitution A C exon_variant LIRI-JP 22 19442260 19442260 single base substitution A C intron_variant LIRI-JP 22 19442592 19442592 single base substitution C A downstream_gene_variant LIRI-JP 22 19442592 19442592 single base substitution C A intron_variant LIRI-JP 22 19442845 19442845 single base substitution T C downstream_gene_variant LIRI-JP 22 19442845 19442845 single base substitution T C intron_variant LIRI-JP 22 19448716 19448716 single base substitution T G downstream_gene_variant LIRI-JP 22 19448716 19448716 single base substitution T G intron_variant LIRI-JP 22 19452949 19452949 single base substitution T C downstream_gene_variant LIRI-JP 22 19452949 19452949 single base substitution T C exon_variant LIRI-JP 22 19452949 19452949 single base substitution T C intron_variant LIRI-JP 22 19453232 19453232 single base substitution T C downstream_gene_variant LIRI-JP 22 19453232 19453232 single base substitution T C exon_variant LIRI-JP 22 19453232 19453232 single base substitution T C intron_variant LIRI-JP 22 19453769 19453769 single base substitution C A downstream_gene_variant LIRI-JP 22 19453769 19453769 single base substitution C A exon_variant LIRI-JP 22 19453769 19453769 single base substitution C A intron_variant LIRI-JP 22 19455260 19455260 single base substitution T C downstream_gene_variant LIRI-JP 22 19455260 19455260 single base substitution T C exon_variant LIRI-JP 22 19455260 19455260 single base substitution T C intron_variant LIRI-JP 22 19455260 19455260 single base substitution T C upstream_gene_variant LIRI-JP 22 19456383 19456383 single base substitution T A intron_variant LIRI-JP 22 19456383 19456383 single base substitution T A upstream_gene_variant LIRI-JP 22 19457042 19457042 single base substitution G A intron_variant LIRI-JP 22 19457042 19457042 single base substitution G A upstream_gene_variant LIRI-JP 22 19459121 19459121 single base substitution G T intron_variant LIRI-JP 22 19459121 19459121 single base substitution G T upstream_gene_variant LIRI-JP 22 19459681 19459681 single base substitution A C intron_variant LIRI-JP 22 19459681 19459681 single base substitution A C upstream_gene_variant LIRI-JP 22 19460013 19460013 single base substitution G A intron_variant LIRI-JP 22 19460013 19460013 single base substitution G A upstream_gene_variant LIRI-JP 22 19460459 19460459 single base substitution G T intron_variant LIRI-JP 22 19462528 19462528 single base substitution T C intron_variant LIRI-JP 22 19465051 19465051 single base substitution T C intron_variant LIRI-JP 22 19465718 19465718 single base substitution T C intron_variant LIRI-JP 22 19466835 19466835 single base substitution A C upstream_gene_variant LIRI-JP 22 19469672 19469672 single base substitution C T upstream_gene_variant LUSC-KR 22 19441367 19441367 single base substitution C G downstream_gene_variant LUSC-KR 22 19441367 19441367 single base substitution C G exon_variant LUSC-KR 22 19441367 19441367 single base substitution C G intron_variant LUSC-KR 22 19442811 19442811 single base substitution C T downstream_gene_variant LUSC-KR 22 19442811 19442811 single base substitution C T intron_variant LUSC-KR 22 19449754 19449754 single base substitution C A downstream_gene_variant LUSC-KR 22 19449754 19449754 single base substitution C A intron_variant LUSC-KR 22 19451001 19451001 single base substitution G A downstream_gene_variant LUSC-KR 22 19451001 19451001 single base substitution G A intron_variant LUSC-KR 22 19451955 19451955 single base substitution G A downstream_gene_variant LUSC-KR 22 19451955 19451955 single base substitution G A intron_variant LUSC-KR 22 19459157 19459157 single base substitution A G intron_variant LUSC-KR 22 19459157 19459157 single base substitution A G upstream_gene_variant LUSC-KR 22 19464872 19464872 single base substitution G C intron_variant MALY-DE 22 19442235 19442235 single base substitution C G downstream_gene_variant MALY-DE 22 19442235 19442235 single base substitution C G exon_variant MALY-DE 22 19442235 19442235 single base substitution C G intron_variant MALY-DE 22 19448266 19448266 single base substitution G A downstream_gene_variant MALY-DE 22 19448266 19448266 single base substitution G A intron_variant MALY-DE 22 19450506 19450506 single base substitution T C downstream_gene_variant MALY-DE 22 19450506 19450506 single base substitution T C intron_variant MALY-DE 22 19451093 19451093 single base substitution C A downstream_gene_variant MALY-DE 22 19451093 19451093 single base substitution C A intron_variant MALY-DE 22 19457741 19457741 single base substitution G A intron_variant MALY-DE 22 19457741 19457741 single base substitution G A upstream_gene_variant MALY-DE 22 19460412 19460412 single base substitution C T intron_variant MALY-DE 22 19471306 19471306 single base substitution T C upstream_gene_variant MELA-AU 22 19432710 19432710 single base substitution C T downstream_gene_variant MELA-AU 22 19433596 19433596 single base substitution T C downstream_gene_variant MELA-AU 22 19434155 19434155 single base substitution C T downstream_gene_variant MELA-AU 22 19434514 19434514 single base substitution T C downstream_gene_variant MELA-AU 22 19435279 19435279 single base substitution A C downstream_gene_variant MELA-AU 22 19436146 19436146 single base substitution T C downstream_gene_variant MELA-AU 22 19436626 19436626 single base substitution C T downstream_gene_variant MELA-AU 22 19437310 19437310 single base substitution G A downstream_gene_variant MELA-AU 22 19438611 19438612 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 19438611 19438612 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 22 19438611 19438612 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19439461 19439461 single base substitution C T downstream_gene_variant MELA-AU 22 19439461 19439461 single base substitution C T exon_variant MELA-AU 22 19439461 19439461 single base substitution C T intron_variant MELA-AU 22 19439800 19439800 single base substitution A T downstream_gene_variant MELA-AU 22 19439800 19439800 single base substitution A T exon_variant MELA-AU 22 19439800 19439800 single base substitution A T intron_variant MELA-AU 22 19439934 19439934 single base substitution G A downstream_gene_variant MELA-AU 22 19439934 19439934 single base substitution G A exon_variant MELA-AU 22 19439934 19439934 single base substitution G A intron_variant MELA-AU 22 19440429 19440429 single base substitution T A downstream_gene_variant MELA-AU 22 19440429 19440429 single base substitution T A exon_variant MELA-AU 22 19440429 19440429 single base substitution T A intron_variant MELA-AU 22 19441475 19441475 single base substitution G A downstream_gene_variant MELA-AU 22 19441475 19441475 single base substitution G A exon_variant MELA-AU 22 19441475 19441475 single base substitution G A intron_variant MELA-AU 22 19442498 19442498 single base substitution G A downstream_gene_variant MELA-AU 22 19442498 19442498 single base substitution G A intron_variant MELA-AU 22 19442604 19442604 single base substitution G A downstream_gene_variant MELA-AU 22 19442604 19442604 single base substitution G A intron_variant MELA-AU 22 19443936 19443936 single base substitution T C downstream_gene_variant MELA-AU 22 19443936 19443936 single base substitution T C intron_variant MELA-AU 22 19444972 19444972 single base substitution C T intron_variant MELA-AU 22 19444983 19444983 single base substitution G A intron_variant MELA-AU 22 19446755 19446755 single base substitution A T intron_variant MELA-AU 22 19446767 19446767 single base substitution G A intron_variant MELA-AU 22 19446771 19446771 single base substitution A C intron_variant MELA-AU 22 19446807 19446807 single base substitution G A intron_variant MELA-AU 22 19446810 19446810 single base substitution G A intron_variant MELA-AU 22 19447408 19447408 single base substitution C T intron_variant MELA-AU 22 19447705 19447705 single base substitution G A intron_variant MELA-AU 22 19448309 19448309 single base substitution G A downstream_gene_variant MELA-AU 22 19448309 19448309 single base substitution G A intron_variant MELA-AU 22 19449389 19449389 single base substitution A T downstream_gene_variant MELA-AU 22 19449389 19449389 single base substitution A T intron_variant MELA-AU 22 19449616 19449617 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 19449616 19449617 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19449697 19449697 single base substitution A G downstream_gene_variant MELA-AU 22 19449697 19449697 single base substitution A G intron_variant MELA-AU 22 19450927 19450927 single base substitution A G downstream_gene_variant MELA-AU 22 19450927 19450927 single base substitution A G intron_variant MELA-AU 22 19451534 19451534 single base substitution T A downstream_gene_variant MELA-AU 22 19451534 19451534 single base substitution T A intron_variant MELA-AU 22 19451920 19451920 single base substitution G A downstream_gene_variant MELA-AU 22 19451920 19451920 single base substitution G A intron_variant MELA-AU 22 19452038 19452038 single base substitution G A downstream_gene_variant MELA-AU 22 19452038 19452038 single base substitution G A intron_variant MELA-AU 22 19452185 19452185 single base substitution G A downstream_gene_variant MELA-AU 22 19452185 19452185 single base substitution G A intron_variant MELA-AU 22 19453728 19453728 single base substitution G A downstream_gene_variant MELA-AU 22 19453728 19453728 single base substitution G A exon_variant MELA-AU 22 19453728 19453728 single base substitution G A intron_variant MELA-AU 22 19454132 19454132 single base substitution C A downstream_gene_variant MELA-AU 22 19454132 19454132 single base substitution C A exon_variant MELA-AU 22 19454132 19454132 single base substitution C A intron_variant MELA-AU 22 19454503 19454503 single base substitution G A downstream_gene_variant MELA-AU 22 19454503 19454503 single base substitution G A exon_variant MELA-AU 22 19454503 19454503 single base substitution G A intron_variant MELA-AU 22 19454990 19454990 single base substitution G A downstream_gene_variant MELA-AU 22 19454990 19454990 single base substitution G A exon_variant MELA-AU 22 19454990 19454990 single base substitution G A intron_variant MELA-AU 22 19455045 19455045 single base substitution G A downstream_gene_variant MELA-AU 22 19455045 19455045 single base substitution G A exon_variant MELA-AU 22 19455045 19455045 single base substitution G A intron_variant MELA-AU 22 19455253 19455253 single base substitution A G downstream_gene_variant MELA-AU 22 19455253 19455253 single base substitution A G exon_variant MELA-AU 22 19455253 19455253 single base substitution A G intron_variant MELA-AU 22 19455253 19455253 single base substitution A G upstream_gene_variant MELA-AU 22 19455704 19455704 single base substitution G A intron_variant MELA-AU 22 19455704 19455704 single base substitution G A upstream_gene_variant MELA-AU 22 19456111 19456111 single base substitution A T intron_variant MELA-AU 22 19456111 19456111 single base substitution A T upstream_gene_variant MELA-AU 22 19456866 19456866 single base substitution G A intron_variant MELA-AU 22 19456866 19456866 single base substitution G A upstream_gene_variant MELA-AU 22 19456972 19456972 single base substitution G A intron_variant MELA-AU 22 19456972 19456972 single base substitution G A upstream_gene_variant MELA-AU 22 19457634 19457634 single base substitution G A intron_variant MELA-AU 22 19457634 19457634 single base substitution G A upstream_gene_variant MELA-AU 22 19457665 19457665 single base substitution G A intron_variant MELA-AU 22 19457665 19457665 single base substitution G A upstream_gene_variant MELA-AU 22 19457901 19457901 single base substitution G A intron_variant MELA-AU 22 19457901 19457901 single base substitution G A upstream_gene_variant MELA-AU 22 19457937 19457937 single base substitution G A intron_variant MELA-AU 22 19457937 19457937 single base substitution G A upstream_gene_variant MELA-AU 22 19458013 19458013 single base substitution G A intron_variant MELA-AU 22 19458013 19458013 single base substitution G A upstream_gene_variant MELA-AU 22 19458083 19458083 single base substitution G A intron_variant MELA-AU 22 19458083 19458083 single base substitution G A upstream_gene_variant MELA-AU 22 19458400 19458400 single base substitution C A intron_variant MELA-AU 22 19458400 19458400 single base substitution C A upstream_gene_variant MELA-AU 22 19458689 19458689 single base substitution C T intron_variant MELA-AU 22 19458689 19458689 single base substitution C T upstream_gene_variant MELA-AU 22 19458750 19458750 single base substitution G A intron_variant MELA-AU 22 19458750 19458750 single base substitution G A upstream_gene_variant MELA-AU 22 19458851 19458851 single base substitution G A intron_variant MELA-AU 22 19458851 19458851 single base substitution G A upstream_gene_variant MELA-AU 22 19459079 19459079 single base substitution G A intron_variant MELA-AU 22 19459079 19459079 single base substitution G A upstream_gene_variant MELA-AU 22 19459529 19459529 single base substitution G A intron_variant MELA-AU 22 19459529 19459529 single base substitution G A upstream_gene_variant MELA-AU 22 19459954 19459955 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19459954 19459955 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 19460569 19460569 single base substitution A G intron_variant MELA-AU 22 19460629 19460629 single base substitution G A intron_variant MELA-AU 22 19460766 19460766 single base substitution G A intron_variant MELA-AU 22 19461070 19461070 single base substitution G A intron_variant MELA-AU 22 19461623 19461623 single base substitution G A intron_variant MELA-AU 22 19462130 19462130 single base substitution T G intron_variant MELA-AU 22 19463775 19463775 single base substitution G A intron_variant MELA-AU 22 19464968 19464968 single base substitution T C intron_variant MELA-AU 22 19465155 19465155 single base substitution C T intron_variant MELA-AU 22 19465936 19465936 single base substitution C T intron_variant MELA-AU 22 19466095 19466095 single base substitution A G intron_variant MELA-AU 22 19466421 19466421 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 22 19466421 19466421 single base substitution G A exon_variant MELA-AU 22 19466421 19466421 single base substitution G A intron_variant MELA-AU 22 19466753 19466753 single base substitution C T upstream_gene_variant MELA-AU 22 19466793 19466793 single base substitution G A upstream_gene_variant MELA-AU 22 19466871 19466871 single base substitution C T upstream_gene_variant MELA-AU 22 19466873 19466873 single base substitution C T upstream_gene_variant MELA-AU 22 19466935 19466935 single base substitution G A upstream_gene_variant MELA-AU 22 19466956 19466956 single base substitution C T upstream_gene_variant MELA-AU 22 19467012 19467012 single base substitution G A upstream_gene_variant MELA-AU 22 19467019 19467019 single base substitution C T upstream_gene_variant MELA-AU 22 19467025 19467025 single base substitution G A upstream_gene_variant MELA-AU 22 19467126 19467126 single base substitution G A upstream_gene_variant MELA-AU 22 19467136 19467136 single base substitution C T upstream_gene_variant MELA-AU 22 19467143 19467143 single base substitution G A upstream_gene_variant MELA-AU 22 19467153 19467153 single base substitution G A upstream_gene_variant MELA-AU 22 19467290 19467290 single base substitution G A upstream_gene_variant MELA-AU 22 19467352 19467352 single base substitution G A upstream_gene_variant MELA-AU 22 19467356 19467356 single base substitution G A upstream_gene_variant MELA-AU 22 19467357 19467357 single base substitution G A upstream_gene_variant MELA-AU 22 19467363 19467363 single base substitution T A upstream_gene_variant MELA-AU 22 19467364 19467364 single base substitution G A upstream_gene_variant MELA-AU 22 19467366 19467366 single base substitution G A upstream_gene_variant MELA-AU 22 19467412 19467412 single base substitution C T upstream_gene_variant MELA-AU 22 19468263 19468264 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 19468453 19468453 single base substitution C T upstream_gene_variant MELA-AU 22 19469941 19469941 single base substitution A G upstream_gene_variant MELA-AU 22 19470202 19470202 single base substitution C T upstream_gene_variant MELA-AU 22 19470380 19470380 single base substitution C T upstream_gene_variant MELA-AU 22 19471608 19471608 single base substitution C T upstream_gene_variant MELA-AU 22 19471679 19471679 single base substitution C T upstream_gene_variant ORCA-IN 22 19443240 19443240 single base substitution G A downstream_gene_variant ORCA-IN 22 19443240 19443240 single base substitution G A exon_variant ORCA-IN 22 19443240 19443240 single base substitution G A missense_variant P148S 442C>T ORCA-IN 22 19443240 19443240 single base substitution G A missense_variant P233S 697C>T ORCA-IN 22 19443240 19443240 single base substitution G A missense_variant P244S 730C>T ORCA-IN 22 19447280 19447280 single base substitution G A intron_variant ORCA-IN 22 19447671 19447671 single base substitution G C intron_variant ORCA-IN 22 19459386 19459386 single base substitution G A intron_variant ORCA-IN 22 19459386 19459386 single base substitution G A upstream_gene_variant ORCA-IN 22 19464813 19464813 single base substitution C G intron_variant ORCA-IN 22 19471516 19471516 single base substitution A G upstream_gene_variant OV-AU 22 19441489 19441489 single base substitution C T downstream_gene_variant OV-AU 22 19441489 19441489 single base substitution C T exon_variant OV-AU 22 19441489 19441489 single base substitution C T intron_variant OV-AU 22 19443207 19443207 single base substitution T C downstream_gene_variant OV-AU 22 19443207 19443207 single base substitution T C exon_variant OV-AU 22 19443207 19443207 single base substitution T C missense_variant K159E 475A>G OV-AU 22 19443207 19443207 single base substitution T C missense_variant K244E 730A>G OV-AU 22 19443207 19443207 single base substitution T C missense_variant K255E 763A>G OV-AU 22 19450190 19450190 single base substitution C G downstream_gene_variant OV-AU 22 19450190 19450190 single base substitution C G intron_variant OV-AU 22 19462672 19462672 single base substitution C A intron_variant OV-AU 22 19467380 19467380 single base substitution T C upstream_gene_variant PACA-AU 22 19432429 19432437 deletion of <=200bp TGCCACTTA - downstream_gene_variant PACA-AU 22 19445545 19445545 single base substitution C T intron_variant PACA-AU 22 19445594 19445594 single base substitution G A splice_region_variant PACA-AU 22 19454779 19454779 single base substitution C T downstream_gene_variant PACA-AU 22 19454779 19454779 single base substitution C T exon_variant PACA-AU 22 19454779 19454779 single base substitution C T intron_variant PACA-AU 22 19455631 19455631 single base substitution G A intron_variant PACA-AU 22 19455631 19455631 single base substitution G A upstream_gene_variant PACA-AU 22 19463525 19463525 single base substitution A G intron_variant PACA-AU 22 19465836 19465836 single base substitution C T intron_variant PACA-AU 22 19471168 19471168 single base substitution T C upstream_gene_variant PACA-CA 22 19435308 19435308 single base substitution T C downstream_gene_variant PACA-CA 22 19436040 19436040 single base substitution C T downstream_gene_variant PACA-CA 22 19444158 19444158 single base substitution C T downstream_gene_variant PACA-CA 22 19444158 19444158 single base substitution C T splice_acceptor_variant PACA-CA 22 19447717 19447717 single base substitution C T intron_variant PACA-CA 22 19449987 19449987 single base substitution G A downstream_gene_variant PACA-CA 22 19449987 19449987 single base substitution G A intron_variant PACA-CA 22 19454604 19454604 deletion of <=200bp T - downstream_gene_variant PACA-CA 22 19454604 19454604 deletion of <=200bp T - exon_variant PACA-CA 22 19454604 19454604 deletion of <=200bp T - intron_variant PACA-CA 22 19454719 19454719 single base substitution T A downstream_gene_variant PACA-CA 22 19454719 19454719 single base substitution T A exon_variant PACA-CA 22 19454719 19454719 single base substitution T A intron_variant PACA-CA 22 19461647 19461647 single base substitution G T intron_variant PACA-CA 22 19462092 19462092 single base substitution T G intron_variant PACA-CA 22 19462347 19462347 single base substitution C T intron_variant PACA-CA 22 19463622 19463622 single base substitution G A intron_variant PACA-CA 22 19466837 19466837 single base substitution T C upstream_gene_variant PACA-CA 22 19468158 19468158 single base substitution A G upstream_gene_variant PACA-CA 22 19468470 19468470 single base substitution C G upstream_gene_variant PACA-CA 22 19469921 19469921 single base substitution G A upstream_gene_variant PAEN-AU 22 19436076 19436076 single base substitution A C downstream_gene_variant PBCA-DE 22 19452970 19452970 single base substitution A G downstream_gene_variant PBCA-DE 22 19452970 19452970 single base substitution A G exon_variant PBCA-DE 22 19452970 19452970 single base substitution A G intron_variant PBCA-DE 22 19458625 19458625 single base substitution G A intron_variant PBCA-DE 22 19458625 19458625 single base substitution G A upstream_gene_variant PRAD-CA 22 19443338 19443338 single base substitution C T downstream_gene_variant PRAD-CA 22 19443338 19443338 single base substitution C T intron_variant PRAD-CA 22 19455284 19455284 single base substitution A C downstream_gene_variant PRAD-CA 22 19455284 19455284 single base substitution A C exon_variant PRAD-CA 22 19455284 19455284 single base substitution A C intron_variant PRAD-CA 22 19455284 19455284 single base substitution A C upstream_gene_variant PRAD-CA 22 19463958 19463958 single base substitution C T intron_variant PRAD-UK 22 19433496 19433496 single base substitution C T downstream_gene_variant PRAD-UK 22 19444226 19444226 single base substitution C G downstream_gene_variant PRAD-UK 22 19444226 19444226 single base substitution C G intron_variant PRAD-UK 22 19459346 19459346 single base substitution G A intron_variant PRAD-UK 22 19459346 19459346 single base substitution G A upstream_gene_variant PRAD-UK 22 19466427 19466427 single base substitution A C 5_prime_UTR_variant PRAD-UK 22 19466427 19466427 single base substitution A C exon_variant PRAD-UK 22 19466427 19466427 single base substitution A C intron_variant PRAD-UK 22 19466450 19466450 single base substitution T C 5_prime_UTR_variant PRAD-UK 22 19466450 19466450 single base substitution T C exon_variant PRAD-UK 22 19466450 19466450 single base substitution T C intron_variant PRAD-US 22 19467485 19467485 single base substitution C A upstream_gene_variant READ-US 22 19470228 19470228 single base substitution C A upstream_gene_variant RECA-EU 22 19435935 19435935 single base substitution A G downstream_gene_variant RECA-EU 22 19446315 19446315 single base substitution C T intron_variant RECA-EU 22 19446944 19446944 single base substitution T G intron_variant RECA-EU 22 19454509 19454509 single base substitution G T downstream_gene_variant RECA-EU 22 19454509 19454509 single base substitution G T exon_variant RECA-EU 22 19454509 19454509 single base substitution G T intron_variant RECA-EU 22 19460594 19460594 single base substitution A G intron_variant RECA-EU 22 19468627 19468627 single base substitution C T upstream_gene_variant SKCA-BR 22 19436092 19436093 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 22 19438643 19438643 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 22 19438643 19438643 insertion of <=200bp - CA exon_variant SKCA-BR 22 19438643 19438643 insertion of <=200bp - CA intron_variant SKCA-BR 22 19451309 19451309 single base substitution G A downstream_gene_variant SKCA-BR 22 19451309 19451309 single base substitution G A intron_variant SKCA-BR 22 19452581 19452581 single base substitution G A downstream_gene_variant SKCA-BR 22 19452581 19452581 single base substitution G A intron_variant SKCA-BR 22 19453023 19453023 single base substitution G A downstream_gene_variant SKCA-BR 22 19453023 19453023 single base substitution G A exon_variant SKCA-BR 22 19453023 19453023 single base substitution G A intron_variant SKCA-BR 22 19455283 19455283 single base substitution C T downstream_gene_variant SKCA-BR 22 19455283 19455283 single base substitution C T exon_variant SKCA-BR 22 19455283 19455283 single base substitution C T intron_variant SKCA-BR 22 19455283 19455283 single base substitution C T upstream_gene_variant SKCA-BR 22 19459795 19459795 single base substitution G A intron_variant SKCA-BR 22 19459795 19459795 single base substitution G A upstream_gene_variant SKCA-BR 22 19461523 19461523 single base substitution G A intron_variant SKCA-BR 22 19462466 19462466 single base substitution C G intron_variant SKCA-BR 22 19462775 19462775 single base substitution T C intron_variant SKCA-BR 22 19466012 19466012 single base substitution G A intron_variant SKCA-BR 22 19466660 19466660 single base substitution A C 5_prime_UTR_variant SKCA-BR 22 19466660 19466660 single base substitution A C exon_variant SKCA-BR 22 19466660 19466660 single base substitution A C upstream_gene_variant SKCA-BR 22 19466935 19466935 single base substitution G A upstream_gene_variant SKCA-BR 22 19467025 19467025 single base substitution G A upstream_gene_variant SKCA-BR 22 19470423 19470423 single base substitution G A upstream_gene_variant SKCA-BR 22 19470424 19470424 single base substitution G A upstream_gene_variant SKCA-BR 22 19470493 19470493 insertion of <=200bp - CT upstream_gene_variant SKCM-US 22 19459311 19459311 single base substitution G A 5_prime_UTR_variant SKCM-US 22 19459311 19459311 single base substitution G A exon_variant SKCM-US 22 19459311 19459311 single base substitution G A intron_variant SKCM-US 22 19459311 19459311 single base substitution G A missense_variant P53S 157C>T SKCM-US 22 19459311 19459311 single base substitution G A missense_variant P59S 175C>T SKCM-US 22 19459311 19459311 single base substitution G A missense_variant P64S 190C>T SKCM-US 22 19459311 19459311 single base substitution G A upstream_gene_variant SKCM-US 22 19463094 19463094 single base substitution G A exon_variant SKCM-US 22 19463094 19463094 single base substitution G A intron_variant SKCM-US 22 19463094 19463094 single base substitution G A missense_variant P12L 35C>T SKCM-US 22 19463094 19463094 single base substitution G A missense_variant P7L 20C>T SKCM-US 22 19470342 19470342 single base substitution G A upstream_gene_variant STAD-US 22 19438229 19438229 single base substitution T C 3_prime_UTR_variant STAD-US 22 19438229 19438229 single base substitution T C downstream_gene_variant STAD-US 22 19438229 19438229 single base substitution T C exon_variant STAD-US 22 19438229 19438229 single base substitution T C synonymous_variant E285E 855A>G STAD-US 22 19438229 19438229 single base substitution T C synonymous_variant E296E 888A>G STAD-US 22 19442297 19442297 single base substitution C T downstream_gene_variant STAD-US 22 19442297 19442297 single base substitution C T exon_variant STAD-US 22 19442297 19442297 single base substitution C T intron_variant STAD-US 22 19442297 19442297 single base substitution C T missense_variant R264H 791G>A STAD-US 22 19442297 19442297 single base substitution C T missense_variant R275H 824G>A STAD-US 22 19442339 19442339 single base substitution T C downstream_gene_variant STAD-US 22 19442339 19442339 single base substitution T C exon_variant STAD-US 22 19442339 19442339 single base substitution T C missense_variant Y250C 749A>G STAD-US 22 19442339 19442339 single base substitution T C missense_variant Y261C 782A>G STAD-US 22 19444143 19444143 single base substitution G A downstream_gene_variant STAD-US 22 19444143 19444143 single base substitution G A exon_variant STAD-US 22 19444143 19444143 single base substitution G A synonymous_variant D119D 357C>T STAD-US 22 19444143 19444143 single base substitution G A synonymous_variant D204D 612C>T STAD-US 22 19444143 19444143 single base substitution G A synonymous_variant D215D 645C>T STAD-US 22 19445627 19445627 single base substitution G A exon_variant STAD-US 22 19445627 19445627 single base substitution G A synonymous_variant D166D 498C>T STAD-US 22 19445627 19445627 single base substitution G A synonymous_variant D177D 531C>T STAD-US 22 19445627 19445627 single base substitution G A synonymous_variant D81D 243C>T STAD-US 22 19463058 19463058 single base substitution C T exon_variant STAD-US 22 19463058 19463058 single base substitution C T intron_variant STAD-US 22 19463058 19463058 single base substitution C T missense_variant R19H 56G>A STAD-US 22 19463058 19463058 single base substitution C T missense_variant R24H 71G>A STAD-US 22 19470330 19470330 single base substitution A G upstream_gene_variant THCA-SA 22 19435267 19435267 single base substitution G A downstream_gene_variant THCA-SA 22 19467462 19467462 single base substitution G T upstream_gene_variant UCEC-US 22 19438243 19438243 single base substitution C T 3_prime_UTR_variant UCEC-US 22 19438243 19438243 single base substitution C T downstream_gene_variant UCEC-US 22 19438243 19438243 single base substitution C T exon_variant UCEC-US 22 19438243 19438243 single base substitution C T missense_variant A281T 841G>A UCEC-US 22 19438243 19438243 single base substitution C T missense_variant A292T 874G>A UCEC-US 22 19443213 19443213 single base substitution C A downstream_gene_variant UCEC-US 22 19443213 19443213 single base substitution C A exon_variant UCEC-US 22 19443213 19443213 single base substitution C A missense_variant D157Y 469G>T UCEC-US 22 19443213 19443213 single base substitution C A missense_variant D242Y 724G>T UCEC-US 22 19443213 19443213 single base substitution C A missense_variant D253Y 757G>T UCEC-US 22 19443292 19443292 single base substitution C A downstream_gene_variant UCEC-US 22 19443292 19443292 single base substitution C A splice_acceptor_variant UCEC-US 22 19445663 19445663 single base substitution C A splice_acceptor_variant UCEC-US 22 19455394 19455394 single base substitution A G downstream_gene_variant UCEC-US 22 19455394 19455394 single base substitution A G exon_variant UCEC-US 22 19455394 19455394 single base substitution A G splice_donor_variant UCEC-US 22 19455394 19455394 single base substitution A G upstream_gene_variant UCEC-US 22 19459280 19459280 single base substitution G A exon_variant UCEC-US 22 19459280 19459280 single base substitution G A intron_variant UCEC-US 22 19459280 19459280 single base substitution G A missense_variant S10L 29C>T UCEC-US 22 19459280 19459280 single base substitution G A missense_variant S63L 188C>T UCEC-US 22 19459280 19459280 single base substitution G A missense_variant S69L 206C>T UCEC-US 22 19459280 19459280 single base substitution G A missense_variant S74L 221C>T UCEC-US 22 19459280 19459280 single base substitution G A upstream_gene_variant UCEC-US 22 19463043 19463043 single base substitution G A exon_variant UCEC-US 22 19463043 19463043 single base substitution G A intron_variant UCEC-US 22 19463043 19463043 single base substitution G A missense_variant S24F 71C>T UCEC-US 22 19463043 19463043 single base substitution G A missense_variant S29F 86C>T UCEC-US 22 19467737 19467737 single base substitution T G upstream_gene_variant UCEC-US 22 19470333 19470333 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-JW-A5VL-01 COSM4848046 c.813C>T p.I271I Substitution - coding silent 22:19454785-19454785 - TCGA-CG-4306-01 COSM4102585 c.71G>A p.R24H Substitution - Missense 22:19475535-19475535 - T3080 COSM4739029 c.22G>A p.D8N Substitution - Missense 22:19475584-19475584 - TCGA-IR-A3LK-01 COSM4816926 c.265G>A p.E89K Substitution - Missense 22:19471713-19471713 - TCGA-D3-A5GO-06 COSM3552176 c.35C>T p.P12L Substitution - Missense 22:19475571-19475571 - TCGA-D1-A103-01 COSM1032102 c.679-1G>T p.? Unknown 22:19455769-19455769 - TCGA-BT-A3PH-01 COSM1307948 c.282C>G p.L94L Substitution - coding silent 22:19471696-19471696 - TCGA-CG-4437-01 COSM4102582 c.782A>G p.Y261C Substitution - Missense 22:19454816-19454816 - TCGA-B5-A0JY-01 COSM1032105 c.221C>T p.S74L Substitution - Missense 22:19471757-19471757 - 587376 COSM1231664 c.924A>C p.*308Y Nonstop extension 22:19450670-19450670 - TCGA-BG-A0VW-01 COSM1032106 c.86C>T p.S29F Substitution - Missense 22:19475520-19475520 - TCGA-DK-A2I6-01 COSM1307949 c.150C>T p.P50P Substitution - coding silent 22:19475087-19475087 - TCGA-AP-A0LM-01 COSM1032103 c.496-1G>T p.? Unknown 22:19458140-19458140 - TCGA-A2-A0CX-01 COSM444702 c.152C>T p.S51L Substitution - Missense 22:19475085-19475085 - Pat_26_A COSM5858907 c.717_719delGAA p.K240delK Deletion - In frame 22:19455728-19455730 - HCC035T COSM4137320 c.763A>G p.K255E Substitution - Missense 22:19455684-19455684 - ccRCC-102 COSM1660286 c.566T>C p.V189A Substitution - Missense 22:19456917-19456917 - TCGA-D7-8578-01 COSM4102583 c.645C>T p.D215D Substitution - coding silent 22:19456620-19456620 - CHEWS004 COSM4582195 c.454C>T p.L152L Substitution - coding silent 22:19465243-19465243 - YUZINO COSM1714144 c.871_872GT>AG p.V291S Substitution - Missense 22:19450722-19450723 - TCGA-AX-A05Z-01 COSM1032104 c.422+2T>C p.? Unknown 22:19467871-19467871 - TCGA-IR-A3LA-01 COSM4844498 c.480C>G p.I160M Substitution - Missense 22:19465217-19465217 - pfg122T COSM267724 c.433G>A p.A145T Substitution - Missense 22:19465264-19465264 - 1946219 COSM1578344 c.921C>G p.P307P Substitution - coding silent 22:19450673-19450673 - C058 COSM1032105 c.221C>T p.S74L Substitution - Missense 22:19471757-19471757 - PT33 COSM5909923 c.419C>T p.A140V Substitution - Missense 22:19467876-19467876 - YUPAER COSM5393156 c.705G>T p.L235L Substitution - coding silent 22:19455742-19455742 - SWE-29 COSM1179399 c.94G>A p.A32T Substitution - Missense 22:19475512-19475512 - QC2-39-T2 COSM5655888 c.80C>T p.S27F Substitution - Missense 22:19475526-19475526 - TCGA-HJ-7597-01 COSM4102580 c.888A>G p.E296E Substitution - coding silent 22:19450706-19450706 - ESOSCC155T COSM1172764 c.684C>G p.F228L Substitution - Missense 22:19455763-19455763 - HN_62671 COSM128431 c.345C>T p.V115V Substitution - coding silent 22:19467950-19467950 - SJACT070_D COSM4968662 c.750G>C p.K250N Substitution - Missense 22:19455697-19455697 - TCGA-BR-7851-01 COSM4102581 c.824G>A p.R275H Substitution - Missense 22:19454774-19454774 - TCGA-BR-4183-01 COSM4102584 c.531C>T p.D177D Substitution - coding silent 22:19458104-19458104 - DLD1 COSM4624578 c.357G>T p.V119V Substitution - coding silent 22:19467938-19467938 - TCGA-EE-A3JD-06 COSM4397435 c.190C>T p.P64S Substitution - Missense 22:19471788-19471788 - TCGA-AZ-4315-01 COSM3693933 c.870C>T p.F290F Substitution - coding silent 22:19450724-19450724 - S02219 COSM5675737 c.838A>G p.K280E Substitution - Missense 22:19454760-19454760 - 587278 COSM1231663 c.767G>T p.R256I Substitution - Missense 22:19455680-19455680 - 8016470 COSM3390090 c.564C>T p.N188N Substitution - coding silent 22:19458071-19458071 - PT48 COSM5934156 c.34C>T p.P12S Substitution - Missense 22:19475572-19475572 - TCGA-AA-3672-01 COSM267724 c.433G>A p.A145T Substitution - Missense 22:19465264-19465264 - CSCC-55-T COSM4567505 c.740_741CC>TT p.S247F Substitution - Missense 22:19455706-19455707 - PD6684a COSM5791534 c.528C>T p.P176P Substitution - coding silent 22:19458107-19458107 - PCSI_0079_Pa_P COSM3379270 c.631-1G>A p.? Unknown 22:19456635-19456635 - AOCS-064-3-3 COSM4137320 c.763A>G p.K255E Substitution - Missense 22:19455684-19455684 - OSCC-GB_01230111 COSM5955396 c.730C>T p.P244S Substitution - Missense 22:19455717-19455717 - BD35T COSM5520290 c.207G>T p.L69L Substitution - coding silent 22:19471771-19471771 - TCGA-AX-A0J0-01 COSM1032101 c.757G>T p.D253Y Substitution - Missense 22:19455690-19455690 - TCGA-FV-A496-01 COSM4939194 c.60C>G p.S20S Substitution - coding silent 22:19475546-19475546 - YUSIM COSM5393157 c.337G>C p.E113Q Substitution - Missense 22:19467958-19467958 - TCGA-B5-A11E-01 COSM1032100 c.874G>A p.A292T Substitution - Missense 22:19450720-19450720 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.474213 22q11.21 601754

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Missense p.R24H c.71G>A 22 19463058 LUAD C T Missense p.R24H c.71G>A 22 19463058 STAD G A Missense p.P64S c.190C>T 22 19459311 CM G A Missense p.S29F c.86C>T 22 19463043 UCEC G A Missense p.S51L c.152C>T 22 19462608 BRCA G A Synonymous p.D177D c.531C>T 22 19445627 STAD G A Synonymous p.F290F c.870C>T 22 19438247 LUAD G A Synonymous p.P50P c.150C>T 22 19462610 BLCA G A Synonymous p.V115V c.345C>T 22 19455473 HNSC G C Missense p.F4L c.12C>G 22 19463117 HNSC G C Synonymous p.L94L c.282C>G 22 19459219 BLCA T C Missense p.Y261C c.782A>G 22 19442339 STAD