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 30776175 30776175 + Missense_Mutation SNP C C T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr22:30776175C>T c.884G>A c.(883-885)cGc>cAc p.R295H BLCA 22 30776328 30776328 + Silent SNP G G A TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chr22:30776328G>A c.807C>T c.(805-807)ctC>ctT p.L269L BLCA 22 30780387 30780387 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr22:30780387C>G c.685G>C c.(685-687)Gat>Cat p.D229H BLCA 22 30780398 30780398 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr22:30780398C>T c.674G>A c.(673-675)gGc>gAc p.G225D BLCA 22 30782063 30782063 + Missense_Mutation SNP C C T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr22:30782063C>T c.497G>A c.(496-498)cGa>cAa p.R166Q BLCA 22 30782063 30782063 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr22:30782063C>T c.497G>A c.(496-498)cGa>cAa p.R166Q BRCA 22 30775714 30775714 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr22:30775714T>A c.1097A>T c.(1096-1098)aAa>aTa p.K366I BRCA 22 30775717 30775718 + Frame_Shift_Del DEL CA CA - TCGA-EW-A1J6-01A-11D-A188-09 TCGA-EW-A1J6-10A-01D-A13O-09 g.chr22:30775717_30775718delCA c.1093_1094delTG c.(1093-1095)tgcfs p.C365fs BRCA 22 30775744 30775744 + Missense_Mutation SNP A A T TCGA-D8-A1XO-01A-11D-A14K-09 TCGA-D8-A1XO-10A-01D-A14K-09 g.chr22:30775744A>T c.1067T>A c.(1066-1068)cTg>cAg p.L356Q COAD 22 30781918 30781918 + Missense_Mutation SNP T T C TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr22:30781918T>C c.562A>G c.(562-564)Acc>Gcc p.T188A COAD 22 30781918 30781918 + Missense_Mutation SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr22:30781918T>C c.562A>G c.(562-564)Acc>Gcc p.T188A COAD 22 30781918 30781918 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr22:30781918T>C c.562A>G c.(562-564)Acc>Gcc p.T188A COADREAD 22 30776099 30776099 + Silent SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr22:30776099C>T c.960G>A c.(958-960)ccG>ccA p.P320P COADREAD 22 30781916 30781916 + Silent SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr22:30781916G>A c.564C>T c.(562-564)acC>acT p.T188T COADREAD 22 30781918 30781918 + Missense_Mutation SNP T T C TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr22:30781918T>C c.562A>G c.(562-564)Acc>Gcc p.T188A COADREAD 22 30781918 30781918 + Missense_Mutation SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr22:30781918T>C c.562A>G c.(562-564)Acc>Gcc p.T188A COADREAD 22 30781918 30781918 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr22:30781918T>C c.562A>G c.(562-564)Acc>Gcc p.T188A ESCA 22 30775768 30775768 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr22:30775768T>C c.1043A>G c.(1042-1044)cAc>cGc p.H348R HNSC 22 30782669 30782669 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr22:30782669G>A c.365C>T c.(364-366)gCc>gTc p.A122V LUAD 22 30782131 30782131 + Splice_Site SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr22:30782131C>T c.e3-1 LUAD 22 30782716 30782716 + Silent SNP T T A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr22:30782716T>A c.318A>T c.(316-318)ccA>ccT p.P106P PAAD 22 30782666 30782666 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:30782666T>C c.368A>G c.(367-369)cAg>cGg p.Q123R PRAD 22 30776081 30776081 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr22:30776081C>T c.978G>A c.(976-978)gcG>gcA p.A326A PRAD 22 30776149 30776149 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr22:30776149T>C c.910A>G c.(910-912)Aag>Gag p.K304E PRAD 22 30780470 30780470 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 g.chr22:30780470G>A c.602C>T c.(601-603)aCg>aTg p.T201M READ 22 30776099 30776099 + Silent SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr22:30776099C>T c.960G>A c.(958-960)ccG>ccA p.P320P READ 22 30781916 30781916 + Silent SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr22:30781916G>A c.564C>T c.(562-564)acC>acT p.T188T SARC 22 30783220 30783221 + In_Frame_Ins INS - - GCAGCAGCA TCGA-DX-AB30-01A-11D-A38Z-09 TCGA-DX-AB30-10A-01D-A38Z-09 g.chr22:30783220_30783221insGCAGCAGCA c.82_83insTGCTGCTGC c.(82-84)ccc>cTGCTGCTGCcc p.27_28insLLL SKCM 22 30776101 30776101 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr22:30776101G>A c.958C>T c.(958-960)Ccg>Tcg p.P320S SKCM 22 30780394 30780394 + Silent SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr22:30780394G>A c.678C>T c.(676-678)ctC>ctT p.L226L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 22 30772567 30772567 single base substitution T C downstream_gene_variant BLCA-US 22 30780387 30780387 single base substitution C G downstream_gene_variant BLCA-US 22 30780387 30780387 single base substitution C G exon_variant BLCA-US 22 30780387 30780387 single base substitution C G missense_variant D166H 496G>C BLCA-US 22 30780387 30780387 single base substitution C G missense_variant D229H 685G>C BLCA-US 22 30780387 30780387 single base substitution C G upstream_gene_variant BLCA-US 22 30780398 30780398 single base substitution C T downstream_gene_variant BLCA-US 22 30780398 30780398 single base substitution C T exon_variant BLCA-US 22 30780398 30780398 single base substitution C T missense_variant G162D 485G>A BLCA-US 22 30780398 30780398 single base substitution C T missense_variant G225D 674G>A BLCA-US 22 30780398 30780398 single base substitution C T upstream_gene_variant BLCA-US 22 30803141 30803141 single base substitution G C intron_variant BLCA-US 22 30806616 30806616 single base substitution C G intron_variant BLCA-US 22 30822716 30822716 single base substitution G A upstream_gene_variant BLCA-US 22 30822725 30822725 single base substitution G A upstream_gene_variant BLCA-US 22 30822740 30822740 single base substitution C T upstream_gene_variant BOCA-FR 22 30790092 30790092 single base substitution A G intron_variant BOCA-FR 22 30820029 30820029 single base substitution G A upstream_gene_variant BRCA-EU 22 30769715 30769715 single base substitution G A downstream_gene_variant BRCA-EU 22 30770979 30770979 single base substitution C G downstream_gene_variant BRCA-EU 22 30771408 30771408 single base substitution C G downstream_gene_variant BRCA-EU 22 30777630 30777630 single base substitution C T downstream_gene_variant BRCA-EU 22 30777630 30777630 single base substitution C T intron_variant BRCA-EU 22 30777630 30777630 single base substitution C T upstream_gene_variant BRCA-EU 22 30778349 30778349 single base substitution C A downstream_gene_variant BRCA-EU 22 30778349 30778349 single base substitution C A intron_variant BRCA-EU 22 30778349 30778349 single base substitution C A upstream_gene_variant BRCA-EU 22 30779757 30779757 single base substitution G A downstream_gene_variant BRCA-EU 22 30779757 30779757 single base substitution G A intron_variant BRCA-EU 22 30779757 30779757 single base substitution G A upstream_gene_variant BRCA-EU 22 30780976 30780976 deletion of <=200bp T - downstream_gene_variant BRCA-EU 22 30780976 30780976 deletion of <=200bp T - intron_variant BRCA-EU 22 30780976 30780976 deletion of <=200bp T - upstream_gene_variant BRCA-EU 22 30781187 30781187 single base substitution G C downstream_gene_variant BRCA-EU 22 30781187 30781187 single base substitution G C intron_variant BRCA-EU 22 30781187 30781187 single base substitution G C upstream_gene_variant BRCA-EU 22 30782415 30782415 single base substitution C T intron_variant BRCA-EU 22 30782415 30782415 single base substitution C T upstream_gene_variant BRCA-EU 22 30782417 30782417 single base substitution C T intron_variant BRCA-EU 22 30782417 30782417 single base substitution C T upstream_gene_variant BRCA-EU 22 30782848 30782848 single base substitution C G exon_variant BRCA-EU 22 30782848 30782848 single base substitution C G intron_variant BRCA-EU 22 30782848 30782848 single base substitution C G upstream_gene_variant BRCA-EU 22 30782974 30782974 single base substitution G A intron_variant BRCA-EU 22 30782974 30782974 single base substitution G A upstream_gene_variant BRCA-EU 22 30784343 30784343 single base substitution C G intron_variant BRCA-EU 22 30784343 30784343 single base substitution C G upstream_gene_variant BRCA-EU 22 30784996 30784996 single base substitution G T intron_variant BRCA-EU 22 30784996 30784996 single base substitution G T upstream_gene_variant BRCA-EU 22 30785432 30785432 single base substitution C T intron_variant BRCA-EU 22 30785432 30785432 single base substitution C T upstream_gene_variant BRCA-EU 22 30785566 30785566 single base substitution C A intron_variant BRCA-EU 22 30785566 30785566 single base substitution C A upstream_gene_variant BRCA-EU 22 30786198 30786198 single base substitution C G intron_variant BRCA-EU 22 30786198 30786198 single base substitution C G upstream_gene_variant BRCA-EU 22 30788171 30788171 insertion of <=200bp - A intron_variant BRCA-EU 22 30788171 30788171 insertion of <=200bp - A upstream_gene_variant BRCA-EU 22 30788244 30788244 single base substitution C A intron_variant BRCA-EU 22 30788244 30788244 single base substitution C A upstream_gene_variant BRCA-EU 22 30789106 30789106 single base substitution A G intron_variant BRCA-EU 22 30789362 30789362 single base substitution C T intron_variant BRCA-EU 22 30790312 30790312 single base substitution C T intron_variant BRCA-EU 22 30792129 30792129 single base substitution C A intron_variant BRCA-EU 22 30792970 30792970 single base substitution C A intron_variant BRCA-EU 22 30794320 30794320 single base substitution C G intron_variant BRCA-EU 22 30794960 30794960 single base substitution C G intron_variant BRCA-EU 22 30795797 30795797 single base substitution G A intron_variant BRCA-EU 22 30796802 30796836 deletion of <=200bp TGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGACA - intron_variant BRCA-EU 22 30797720 30797720 single base substitution C T intron_variant BRCA-EU 22 30799094 30799094 insertion of <=200bp - A intron_variant BRCA-EU 22 30800233 30800233 single base substitution G T intron_variant BRCA-EU 22 30800317 30800317 single base substitution C T intron_variant BRCA-EU 22 30801520 30801520 single base substitution G A intron_variant BRCA-EU 22 30801690 30801690 single base substitution G T intron_variant BRCA-EU 22 30801860 30801860 insertion of <=200bp - T intron_variant BRCA-EU 22 30802489 30802489 single base substitution G A intron_variant BRCA-EU 22 30802769 30802769 single base substitution C T intron_variant BRCA-EU 22 30803864 30803864 single base substitution C T intron_variant BRCA-EU 22 30804021 30804021 single base substitution C T intron_variant BRCA-EU 22 30804418 30804418 deletion of <=200bp A - intron_variant BRCA-EU 22 30804484 30804484 single base substitution G C intron_variant BRCA-EU 22 30806409 30806409 single base substitution C T intron_variant BRCA-EU 22 30808566 30808569 deletion of <=200bp TGTT - intron_variant BRCA-EU 22 30810254 30810254 single base substitution T G intron_variant BRCA-EU 22 30812951 30812951 single base substitution C A intron_variant BRCA-EU 22 30813828 30813828 single base substitution G A intron_variant BRCA-EU 22 30814248 30814248 single base substitution G A intron_variant BRCA-EU 22 30815148 30815148 single base substitution C T intron_variant BRCA-EU 22 30819191 30819191 single base substitution T A upstream_gene_variant BRCA-EU 22 30819376 30819376 single base substitution C A upstream_gene_variant BRCA-EU 22 30819871 30819874 deletion of <=200bp CTCA - upstream_gene_variant BRCA-EU 22 30819950 30819950 single base substitution G A upstream_gene_variant BRCA-EU 22 30819951 30819951 single base substitution C A upstream_gene_variant BRCA-EU 22 30820823 30820823 single base substitution A C upstream_gene_variant BRCA-EU 22 30822711 30822711 single base substitution C G upstream_gene_variant BRCA-FR 22 30770979 30770979 single base substitution C G downstream_gene_variant BRCA-FR 22 30782974 30782974 single base substitution G A intron_variant BRCA-FR 22 30782974 30782974 single base substitution G A upstream_gene_variant BRCA-FR 22 30794514 30794514 single base substitution G A intron_variant BRCA-FR 22 30803864 30803864 single base substitution C T intron_variant BRCA-FR 22 30804021 30804021 single base substitution C T intron_variant BRCA-FR 22 30813280 30813280 single base substitution G T intron_variant BRCA-KR 22 30772244 30772244 single base substitution G T downstream_gene_variant BRCA-UK 22 30789106 30789106 single base substitution A G intron_variant BRCA-US 22 30775714 30775714 single base substitution T A downstream_gene_variant BRCA-US 22 30775714 30775714 single base substitution T A exon_variant BRCA-US 22 30775714 30775714 single base substitution T A missense_variant K17I 50A>T BRCA-US 22 30775714 30775714 single base substitution T A missense_variant K303I 908A>T BRCA-US 22 30775714 30775714 single base substitution T A missense_variant K366I 1097A>T BRCA-US 22 30775717 30775718 deletion of <=200bp CA - downstream_gene_variant BRCA-US 22 30775717 30775718 deletion of <=200bp CA - exon_variant BRCA-US 22 30775717 30775718 deletion of <=200bp CA - frameshift_variant C16 BRCA-US 22 30775717 30775718 deletion of <=200bp CA - frameshift_variant C302 BRCA-US 22 30775717 30775718 deletion of <=200bp CA - frameshift_variant C365 BRCA-US 22 30775744 30775744 single base substitution A T downstream_gene_variant BRCA-US 22 30775744 30775744 single base substitution A T exon_variant BRCA-US 22 30775744 30775744 single base substitution A T missense_variant L293Q 878T>A BRCA-US 22 30775744 30775744 single base substitution A T missense_variant L356Q 1067T>A BRCA-US 22 30775744 30775744 single base substitution A T missense_variant L7Q 20T>A BRCA-US 22 30806647 30806649 deletion of <=200bp AAG - intron_variant BRCA-US 22 30818390 30818390 single base substitution G A upstream_gene_variant BTCA-JP 22 30771530 30771530 single base substitution G C downstream_gene_variant BTCA-JP 22 30772244 30772244 single base substitution G T downstream_gene_variant BTCA-JP 22 30782704 30782704 single base substitution C A exon_variant BTCA-JP 22 30782704 30782704 single base substitution C A missense_variant W110C 330G>T BTCA-JP 22 30782704 30782704 single base substitution C A missense_variant W15C 45G>T BTCA-JP 22 30782704 30782704 single base substitution C A missense_variant W47C 141G>T BTCA-JP 22 30782704 30782704 single base substitution C A upstream_gene_variant BTCA-JP 22 30783159 30783159 single base substitution C G intron_variant BTCA-JP 22 30783159 30783159 single base substitution C G synonymous_variant P48P 144G>C BTCA-JP 22 30783159 30783159 single base substitution C G upstream_gene_variant BTCA-JP 22 30793755 30793755 single base substitution C T intron_variant BTCA-JP 22 30795527 30795527 single base substitution G A intron_variant BTCA-JP 22 30812372 30812372 single base substitution C T intron_variant BTCA-JP 22 30812476 30812483 deletion of <=200bp GGCTCTGA - intron_variant CESC-US 22 30793105 30793105 single base substitution G T intron_variant CESC-US 22 30805241 30805241 single base substitution C G intron_variant CESC-US 22 30805418 30805418 single base substitution C T intron_variant CLLE-ES 22 30802713 30802713 single base substitution C T intron_variant CLLE-ES 22 30812003 30812003 single base substitution C A intron_variant CLLE-ES 22 30815966 30815966 single base substitution G A intron_variant COAD-US 22 30770065 30770065 single base substitution G A downstream_gene_variant COAD-US 22 30772543 30772543 single base substitution C T downstream_gene_variant COAD-US 22 30782731 30782731 single base substitution G A exon_variant COAD-US 22 30782731 30782731 single base substitution G A synonymous_variant A101A 303C>T COAD-US 22 30782731 30782731 single base substitution G A synonymous_variant A38A 114C>T COAD-US 22 30782731 30782731 single base substitution G A synonymous_variant A6A 18C>T COAD-US 22 30782731 30782731 single base substitution G A upstream_gene_variant COAD-US 22 30812043 30812043 single base substitution A G intron_variant COAD-US 22 30812075 30812075 single base substitution A T intron_variant COAD-US 22 30821892 30821892 single base substitution G A upstream_gene_variant COAD-US 22 30821897 30821897 single base substitution G T upstream_gene_variant COCA-CN 22 30772248 30772248 single base substitution C T downstream_gene_variant COCA-CN 22 30776117 30776117 single base substitution C T downstream_gene_variant COCA-CN 22 30776117 30776117 single base substitution C T exon_variant COCA-CN 22 30776117 30776117 single base substitution C T synonymous_variant A251A 753G>A COCA-CN 22 30776117 30776117 single base substitution C T synonymous_variant A314A 942G>A COCA-CN 22 30776117 30776117 single base substitution C T upstream_gene_variant COCA-CN 22 30776201 30776201 single base substitution G A downstream_gene_variant COCA-CN 22 30776201 30776201 single base substitution G A splice_region_variant COCA-CN 22 30776201 30776201 single base substitution G A upstream_gene_variant COCA-CN 22 30782089 30782089 single base substitution A G exon_variant COCA-CN 22 30782089 30782089 single base substitution A G synonymous_variant L157L 471T>C COCA-CN 22 30782089 30782089 single base substitution A G synonymous_variant L62L 186T>C COCA-CN 22 30782089 30782089 single base substitution A G synonymous_variant L94L 282T>C COCA-CN 22 30782089 30782089 single base substitution A G upstream_gene_variant COCA-CN 22 30782439 30782439 single base substitution T C intron_variant COCA-CN 22 30782439 30782439 single base substitution T C upstream_gene_variant COCA-CN 22 30795670 30795670 single base substitution G A intron_variant COCA-CN 22 30803289 30803289 single base substitution G C intron_variant COCA-CN 22 30803312 30803312 single base substitution G A intron_variant COCA-CN 22 30805228 30805228 single base substitution G A intron_variant COCA-CN 22 30820768 30820768 single base substitution G T upstream_gene_variant EOPC-DE 22 30819054 30819054 single base substitution C T upstream_gene_variant ESAD-UK 22 30769324 30769324 single base substitution A C downstream_gene_variant ESAD-UK 22 30769340 30769340 single base substitution G A downstream_gene_variant ESAD-UK 22 30769713 30769713 single base substitution G A downstream_gene_variant ESAD-UK 22 30771668 30771668 single base substitution C T downstream_gene_variant ESAD-UK 22 30775121 30775121 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 30775121 30775121 single base substitution G A downstream_gene_variant ESAD-UK 22 30775121 30775121 single base substitution G A intron_variant ESAD-UK 22 30777206 30777206 single base substitution G A downstream_gene_variant ESAD-UK 22 30777206 30777206 single base substitution G A intron_variant ESAD-UK 22 30777206 30777206 single base substitution G A upstream_gene_variant ESAD-UK 22 30778085 30778085 single base substitution G A downstream_gene_variant ESAD-UK 22 30778085 30778085 single base substitution G A intron_variant ESAD-UK 22 30778085 30778085 single base substitution G A upstream_gene_variant ESAD-UK 22 30779152 30779152 single base substitution C T downstream_gene_variant ESAD-UK 22 30779152 30779152 single base substitution C T intron_variant ESAD-UK 22 30779152 30779152 single base substitution C T upstream_gene_variant ESAD-UK 22 30780033 30780033 single base substitution G T downstream_gene_variant ESAD-UK 22 30780033 30780033 single base substitution G T intron_variant ESAD-UK 22 30780033 30780033 single base substitution G T upstream_gene_variant ESAD-UK 22 30782532 30782532 single base substitution A C intron_variant ESAD-UK 22 30782532 30782532 single base substitution A C upstream_gene_variant ESAD-UK 22 30783505 30783505 single base substitution C T intron_variant ESAD-UK 22 30783505 30783505 single base substitution C T upstream_gene_variant ESAD-UK 22 30783969 30783969 single base substitution C A intron_variant ESAD-UK 22 30783969 30783969 single base substitution C A upstream_gene_variant ESAD-UK 22 30786283 30786283 single base substitution G T intron_variant ESAD-UK 22 30786283 30786283 single base substitution G T upstream_gene_variant ESAD-UK 22 30786744 30786744 single base substitution G T intron_variant ESAD-UK 22 30786744 30786744 single base substitution G T upstream_gene_variant ESAD-UK 22 30787106 30787106 deletion of <=200bp A - intron_variant ESAD-UK 22 30787106 30787106 deletion of <=200bp A - upstream_gene_variant ESAD-UK 22 30793092 30793092 single base substitution G A intron_variant ESAD-UK 22 30796501 30796501 single base substitution C T intron_variant ESAD-UK 22 30796537 30796537 deletion of <=200bp T - intron_variant ESAD-UK 22 30798036 30798036 single base substitution C T intron_variant ESAD-UK 22 30808247 30808247 deletion of <=200bp A - intron_variant ESAD-UK 22 30815030 30815030 single base substitution G A intron_variant ESAD-UK 22 30815042 30815042 single base substitution A T intron_variant ESAD-UK 22 30816230 30816230 single base substitution C T intron_variant ESAD-UK 22 30818397 30818397 single base substitution C T upstream_gene_variant ESAD-UK 22 30819822 30819822 single base substitution G C upstream_gene_variant ESCA-CN 22 30805460 30805460 single base substitution C G intron_variant ESCA-CN 22 30822733 30822733 single base substitution C G upstream_gene_variant KIRC-US 22 30805428 30805428 single base substitution T A intron_variant KIRP-US 22 30771620 30771620 single base substitution A G downstream_gene_variant KIRP-US 22 30805476 30805476 insertion of <=200bp - T intron_variant KIRP-US 22 30818390 30818390 insertion of <=200bp - A upstream_gene_variant LICA-FR 22 30776312 30776312 single base substitution G A downstream_gene_variant LICA-FR 22 30776312 30776312 single base substitution G A exon_variant LICA-FR 22 30776312 30776312 single base substitution G A missense_variant R212W 634C>T LICA-FR 22 30776312 30776312 single base substitution G A missense_variant R275W 823C>T LICA-FR 22 30776312 30776312 single base substitution G A upstream_gene_variant LICA-FR 22 30792778 30792778 single base substitution G T intron_variant LICA-FR 22 30800013 30800013 single base substitution A G intron_variant LICA-FR 22 30810639 30810639 single base substitution A G intron_variant LICA-FR 22 30822543 30822543 single base substitution A G upstream_gene_variant LINC-JP 22 30772927 30772927 single base substitution G C downstream_gene_variant LINC-JP 22 30775628 30775628 single base substitution G A downstream_gene_variant LINC-JP 22 30775628 30775628 single base substitution G A intron_variant LINC-JP 22 30775628 30775628 single base substitution G A missense_variant L332F 994C>T LINC-JP 22 30783199 30783199 single base substitution C T intron_variant LINC-JP 22 30783199 30783199 single base substitution C T missense_variant G35D 104G>A LINC-JP 22 30783199 30783199 single base substitution C T upstream_gene_variant LINC-JP 22 30793481 30793481 single base substitution C T intron_variant LINC-JP 22 30795527 30795527 single base substitution G A intron_variant LINC-JP 22 30795531 30795531 single base substitution C G intron_variant LINC-JP 22 30795750 30795750 single base substitution T C intron_variant LINC-JP 22 30796934 30796934 single base substitution C T intron_variant LINC-JP 22 30801909 30801909 single base substitution A G intron_variant LINC-JP 22 30803238 30803238 deletion of <=200bp G - intron_variant LINC-JP 22 30803721 30803721 single base substitution A T intron_variant LINC-JP 22 30812436 30812436 single base substitution G A intron_variant LINC-JP 22 30818184 30818184 single base substitution A G upstream_gene_variant LINC-JP 22 30818185 30818185 single base substitution C T upstream_gene_variant LINC-JP 22 30818237 30818237 single base substitution A T upstream_gene_variant LINC-JP 22 30818238 30818238 single base substitution T G upstream_gene_variant LINC-JP 22 30818389 30818389 single base substitution C G upstream_gene_variant LINC-JP 22 30819301 30819301 single base substitution T G upstream_gene_variant LINC-JP 22 30820579 30820579 single base substitution A G upstream_gene_variant LIRI-JP 22 30769281 30769281 single base substitution T A downstream_gene_variant LIRI-JP 22 30772897 30772897 single base substitution C T downstream_gene_variant LIRI-JP 22 30776419 30776419 single base substitution T C downstream_gene_variant LIRI-JP 22 30776419 30776419 single base substitution T C intron_variant LIRI-JP 22 30776419 30776419 single base substitution T C upstream_gene_variant LIRI-JP 22 30776761 30776761 single base substitution C T downstream_gene_variant LIRI-JP 22 30776761 30776761 single base substitution C T intron_variant LIRI-JP 22 30776761 30776761 single base substitution C T upstream_gene_variant LIRI-JP 22 30777630 30777630 single base substitution C A downstream_gene_variant LIRI-JP 22 30777630 30777630 single base substitution C A intron_variant LIRI-JP 22 30777630 30777630 single base substitution C A upstream_gene_variant LIRI-JP 22 30778069 30778069 single base substitution A G downstream_gene_variant LIRI-JP 22 30778069 30778069 single base substitution A G intron_variant LIRI-JP 22 30778069 30778069 single base substitution A G upstream_gene_variant LIRI-JP 22 30781730 30781730 single base substitution C T downstream_gene_variant LIRI-JP 22 30781730 30781730 single base substitution C T intron_variant LIRI-JP 22 30781730 30781730 single base substitution C T upstream_gene_variant LIRI-JP 22 30782073 30782073 single base substitution T A exon_variant LIRI-JP 22 30782073 30782073 single base substitution T A missense_variant N100Y 298A>T LIRI-JP 22 30782073 30782073 single base substitution T A missense_variant N163Y 487A>T LIRI-JP 22 30782073 30782073 single base substitution T A missense_variant N68Y 202A>T LIRI-JP 22 30782073 30782073 single base substitution T A upstream_gene_variant LIRI-JP 22 30782089 30782089 single base substitution A G exon_variant LIRI-JP 22 30782089 30782089 single base substitution A G synonymous_variant L157L 471T>C LIRI-JP 22 30782089 30782089 single base substitution A G synonymous_variant L62L 186T>C LIRI-JP 22 30782089 30782089 single base substitution A G synonymous_variant L94L 282T>C LIRI-JP 22 30782089 30782089 single base substitution A G upstream_gene_variant LIRI-JP 22 30786570 30786570 single base substitution C T intron_variant LIRI-JP 22 30786570 30786570 single base substitution C T upstream_gene_variant LIRI-JP 22 30788207 30788207 single base substitution C G intron_variant LIRI-JP 22 30788207 30788207 single base substitution C G upstream_gene_variant LIRI-JP 22 30789379 30789380 deletion of <=200bp TG - intron_variant LIRI-JP 22 30792350 30792350 single base substitution C T intron_variant LIRI-JP 22 30793944 30793944 single base substitution C A intron_variant LIRI-JP 22 30795874 30795874 single base substitution A G intron_variant LIRI-JP 22 30797238 30797238 single base substitution G A intron_variant LIRI-JP 22 30798820 30798820 single base substitution C T intron_variant LIRI-JP 22 30799006 30799006 single base substitution A G intron_variant LIRI-JP 22 30799122 30799122 single base substitution T G intron_variant LIRI-JP 22 30800673 30800673 single base substitution A G intron_variant LIRI-JP 22 30802180 30802180 single base substitution A C intron_variant LIRI-JP 22 30802592 30802592 single base substitution A C intron_variant LIRI-JP 22 30802906 30802906 single base substitution A G intron_variant LIRI-JP 22 30805445 30805445 single base substitution G T intron_variant LIRI-JP 22 30805446 30805446 single base substitution A T intron_variant LIRI-JP 22 30805584 30805584 single base substitution A C intron_variant LIRI-JP 22 30807520 30807520 single base substitution A C intron_variant LIRI-JP 22 30808241 30808241 single base substitution C G intron_variant LIRI-JP 22 30808702 30808702 single base substitution A G intron_variant LIRI-JP 22 30810828 30810828 single base substitution C T intron_variant LIRI-JP 22 30811695 30811695 single base substitution A C intron_variant LIRI-JP 22 30811714 30811714 single base substitution A T intron_variant LIRI-JP 22 30813076 30813076 single base substitution G C intron_variant LIRI-JP 22 30814437 30814437 single base substitution C A intron_variant LIRI-JP 22 30814984 30814984 single base substitution A G intron_variant LIRI-JP 22 30815558 30815558 single base substitution G T intron_variant LIRI-JP 22 30816767 30816767 single base substitution A G intron_variant LIRI-JP 22 30816815 30816815 single base substitution A C intron_variant LIRI-JP 22 30816848 30816848 single base substitution A G intron_variant LIRI-JP 22 30816851 30816851 single base substitution A C intron_variant LIRI-JP 22 30817137 30817137 single base substitution A G intron_variant LIRI-JP 22 30817709 30817709 single base substitution G A 5_prime_UTR_variant LIRI-JP 22 30818640 30818641 deletion of <=200bp TG - upstream_gene_variant LIRI-JP 22 30820751 30820751 single base substitution C T upstream_gene_variant LIRI-JP 22 30822214 30822214 single base substitution C T upstream_gene_variant LUSC-KR 22 30778200 30778200 single base substitution G A downstream_gene_variant LUSC-KR 22 30778200 30778200 single base substitution G A intron_variant LUSC-KR 22 30778200 30778200 single base substitution G A upstream_gene_variant LUSC-KR 22 30778432 30778432 single base substitution G C downstream_gene_variant LUSC-KR 22 30778432 30778432 single base substitution G C intron_variant LUSC-KR 22 30778432 30778432 single base substitution G C upstream_gene_variant LUSC-KR 22 30782731 30782731 single base substitution G A exon_variant LUSC-KR 22 30782731 30782731 single base substitution G A synonymous_variant A101A 303C>T LUSC-KR 22 30782731 30782731 single base substitution G A synonymous_variant A38A 114C>T LUSC-KR 22 30782731 30782731 single base substitution G A synonymous_variant A6A 18C>T LUSC-KR 22 30782731 30782731 single base substitution G A upstream_gene_variant LUSC-KR 22 30783418 30783418 single base substitution G T intron_variant LUSC-KR 22 30783418 30783418 single base substitution G T upstream_gene_variant LUSC-KR 22 30788007 30788007 single base substitution C T intron_variant LUSC-KR 22 30788007 30788007 single base substitution C T upstream_gene_variant LUSC-KR 22 30788067 30788067 single base substitution T A intron_variant LUSC-KR 22 30788067 30788067 single base substitution T A upstream_gene_variant LUSC-KR 22 30802004 30802004 single base substitution C T intron_variant LUSC-KR 22 30813822 30813822 single base substitution C A intron_variant LUSC-KR 22 30820707 30820707 single base substitution A G upstream_gene_variant LUSC-US 22 30772728 30772728 single base substitution C A downstream_gene_variant LUSC-US 22 30795663 30795663 single base substitution C T intron_variant LUSC-US 22 30795664 30795664 single base substitution C T intron_variant LUSC-US 22 30795665 30795665 single base substitution C T intron_variant LUSC-US 22 30818328 30818328 single base substitution G T upstream_gene_variant MALY-DE 22 30783713 30783713 single base substitution G C intron_variant MALY-DE 22 30783713 30783713 single base substitution G C upstream_gene_variant MALY-DE 22 30795561 30795561 single base substitution G C intron_variant MALY-DE 22 30797238 30797238 single base substitution G A intron_variant MALY-DE 22 30804418 30804418 insertion of <=200bp - A intron_variant MALY-DE 22 30807120 30807120 single base substitution G A intron_variant MALY-DE 22 30820150 30820150 single base substitution C G upstream_gene_variant MELA-AU 22 30768897 30768897 single base substitution G A downstream_gene_variant MELA-AU 22 30769262 30769262 single base substitution C T downstream_gene_variant MELA-AU 22 30769763 30769764 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 30770064 30770064 single base substitution C G downstream_gene_variant MELA-AU 22 30770406 30770406 single base substitution T G downstream_gene_variant MELA-AU 22 30771685 30771685 single base substitution G A downstream_gene_variant MELA-AU 22 30772726 30772726 single base substitution C G downstream_gene_variant MELA-AU 22 30772728 30772728 single base substitution C T downstream_gene_variant MELA-AU 22 30773044 30773044 single base substitution C T downstream_gene_variant MELA-AU 22 30773708 30773708 single base substitution G A downstream_gene_variant MELA-AU 22 30773709 30773709 single base substitution G A downstream_gene_variant MELA-AU 22 30774253 30774253 single base substitution G A downstream_gene_variant MELA-AU 22 30774253 30774253 single base substitution G A intron_variant MELA-AU 22 30774620 30774620 single base substitution G A downstream_gene_variant MELA-AU 22 30774620 30774620 single base substitution G A intron_variant MELA-AU 22 30777494 30777494 single base substitution G A downstream_gene_variant MELA-AU 22 30777494 30777494 single base substitution G A intron_variant MELA-AU 22 30777494 30777494 single base substitution G A upstream_gene_variant MELA-AU 22 30777907 30777907 single base substitution C T downstream_gene_variant MELA-AU 22 30777907 30777907 single base substitution C T intron_variant MELA-AU 22 30777907 30777907 single base substitution C T upstream_gene_variant MELA-AU 22 30778212 30778212 single base substitution G A downstream_gene_variant MELA-AU 22 30778212 30778212 single base substitution G A intron_variant MELA-AU 22 30778212 30778212 single base substitution G A upstream_gene_variant MELA-AU 22 30779603 30779603 single base substitution G A downstream_gene_variant MELA-AU 22 30779603 30779603 single base substitution G A intron_variant MELA-AU 22 30779603 30779603 single base substitution G A upstream_gene_variant MELA-AU 22 30779825 30779825 single base substitution G A downstream_gene_variant MELA-AU 22 30779825 30779825 single base substitution G A intron_variant MELA-AU 22 30779825 30779825 single base substitution G A upstream_gene_variant MELA-AU 22 30779998 30779998 single base substitution G A downstream_gene_variant MELA-AU 22 30779998 30779998 single base substitution G A intron_variant MELA-AU 22 30779998 30779998 single base substitution G A upstream_gene_variant MELA-AU 22 30781139 30781140 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 30781139 30781140 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 30781139 30781140 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 30781419 30781419 single base substitution A T downstream_gene_variant MELA-AU 22 30781419 30781419 single base substitution A T intron_variant MELA-AU 22 30781419 30781419 single base substitution A T upstream_gene_variant MELA-AU 22 30781872 30781872 single base substitution G T downstream_gene_variant MELA-AU 22 30781872 30781872 single base substitution G T intron_variant MELA-AU 22 30781872 30781872 single base substitution G T upstream_gene_variant MELA-AU 22 30782526 30782526 single base substitution C A intron_variant MELA-AU 22 30782526 30782526 single base substitution C A upstream_gene_variant MELA-AU 22 30782533 30782533 single base substitution G A intron_variant MELA-AU 22 30782533 30782533 single base substitution G A upstream_gene_variant MELA-AU 22 30782537 30782537 single base substitution G A intron_variant MELA-AU 22 30782537 30782537 single base substitution G A upstream_gene_variant MELA-AU 22 30783791 30783791 single base substitution C T intron_variant MELA-AU 22 30783791 30783791 single base substitution C T upstream_gene_variant MELA-AU 22 30784152 30784152 single base substitution C T 5_prime_UTR_variant MELA-AU 22 30784152 30784152 single base substitution C T upstream_gene_variant MELA-AU 22 30784238 30784238 single base substitution C T 5_prime_UTR_variant MELA-AU 22 30784238 30784238 single base substitution C T upstream_gene_variant MELA-AU 22 30784263 30784263 single base substitution C T 5_prime_UTR_variant MELA-AU 22 30784263 30784263 single base substitution C T upstream_gene_variant MELA-AU 22 30784297 30784297 single base substitution C T intron_variant MELA-AU 22 30784297 30784297 single base substitution C T upstream_gene_variant MELA-AU 22 30784436 30784436 single base substitution G A intron_variant MELA-AU 22 30784436 30784436 single base substitution G A upstream_gene_variant MELA-AU 22 30784783 30784783 single base substitution G A intron_variant MELA-AU 22 30784783 30784783 single base substitution G A upstream_gene_variant MELA-AU 22 30785018 30785018 single base substitution G A intron_variant MELA-AU 22 30785018 30785018 single base substitution G A upstream_gene_variant MELA-AU 22 30785325 30785325 single base substitution C T intron_variant MELA-AU 22 30785325 30785325 single base substitution C T upstream_gene_variant MELA-AU 22 30785363 30785363 single base substitution G T intron_variant MELA-AU 22 30785363 30785363 single base substitution G T upstream_gene_variant MELA-AU 22 30785530 30785530 single base substitution C T intron_variant MELA-AU 22 30785530 30785530 single base substitution C T upstream_gene_variant MELA-AU 22 30785544 30785544 single base substitution T C intron_variant MELA-AU 22 30785544 30785544 single base substitution T C upstream_gene_variant MELA-AU 22 30785816 30785816 single base substitution G A intron_variant MELA-AU 22 30785816 30785816 single base substitution G A upstream_gene_variant MELA-AU 22 30785851 30785851 single base substitution G A intron_variant MELA-AU 22 30785851 30785851 single base substitution G A upstream_gene_variant MELA-AU 22 30786479 30786479 single base substitution G A intron_variant MELA-AU 22 30786479 30786479 single base substitution G A upstream_gene_variant MELA-AU 22 30786509 30786509 single base substitution G A intron_variant MELA-AU 22 30786509 30786509 single base substitution G A upstream_gene_variant MELA-AU 22 30786553 30786553 single base substitution G A intron_variant MELA-AU 22 30786553 30786553 single base substitution G A upstream_gene_variant MELA-AU 22 30786631 30786631 single base substitution G A intron_variant MELA-AU 22 30786631 30786631 single base substitution G A upstream_gene_variant MELA-AU 22 30786745 30786745 single base substitution G A intron_variant MELA-AU 22 30786745 30786745 single base substitution G A upstream_gene_variant MELA-AU 22 30786802 30786802 single base substitution G A intron_variant MELA-AU 22 30786802 30786802 single base substitution G A upstream_gene_variant MELA-AU 22 30786895 30786895 single base substitution G A intron_variant MELA-AU 22 30786895 30786895 single base substitution G A upstream_gene_variant MELA-AU 22 30786989 30786989 single base substitution G A intron_variant MELA-AU 22 30786989 30786989 single base substitution G A upstream_gene_variant MELA-AU 22 30787120 30787120 single base substitution C T intron_variant MELA-AU 22 30787120 30787120 single base substitution C T upstream_gene_variant MELA-AU 22 30787267 30787267 single base substitution G A intron_variant MELA-AU 22 30787267 30787267 single base substitution G A upstream_gene_variant MELA-AU 22 30787850 30787850 single base substitution G A intron_variant MELA-AU 22 30787850 30787850 single base substitution G A upstream_gene_variant MELA-AU 22 30787888 30787888 single base substitution G A intron_variant MELA-AU 22 30787888 30787888 single base substitution G A upstream_gene_variant MELA-AU 22 30787914 30787914 single base substitution A G intron_variant MELA-AU 22 30787914 30787914 single base substitution A G upstream_gene_variant MELA-AU 22 30788041 30788041 single base substitution G A intron_variant MELA-AU 22 30788041 30788041 single base substitution G A upstream_gene_variant MELA-AU 22 30788468 30788468 single base substitution G A intron_variant MELA-AU 22 30788833 30788833 single base substitution G A intron_variant MELA-AU 22 30788867 30788867 single base substitution C T intron_variant MELA-AU 22 30788946 30788946 single base substitution C T intron_variant MELA-AU 22 30788969 30788969 single base substitution G A intron_variant MELA-AU 22 30789240 30789240 single base substitution C T intron_variant MELA-AU 22 30790157 30790157 single base substitution G A intron_variant MELA-AU 22 30790164 30790164 single base substitution G A intron_variant MELA-AU 22 30790627 30790627 single base substitution C T intron_variant MELA-AU 22 30790772 30790773 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 30790965 30790965 single base substitution G A intron_variant MELA-AU 22 30791053 30791053 single base substitution T A intron_variant MELA-AU 22 30792532 30792532 single base substitution G A intron_variant MELA-AU 22 30792955 30792955 single base substitution C T intron_variant MELA-AU 22 30792968 30792968 single base substitution G A intron_variant MELA-AU 22 30794088 30794088 single base substitution C T intron_variant MELA-AU 22 30794742 30794742 single base substitution T C intron_variant MELA-AU 22 30794804 30794804 single base substitution C T intron_variant MELA-AU 22 30795438 30795438 single base substitution A C intron_variant MELA-AU 22 30795660 30795660 single base substitution C T intron_variant MELA-AU 22 30796813 30796814 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 30797247 30797248 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 30797440 30797440 deletion of <=200bp G - intron_variant MELA-AU 22 30798124 30798124 single base substitution G A intron_variant MELA-AU 22 30798315 30798315 single base substitution G T intron_variant MELA-AU 22 30798392 30798392 single base substitution T A intron_variant MELA-AU 22 30799268 30799268 single base substitution C T intron_variant MELA-AU 22 30799583 30799583 single base substitution C T intron_variant MELA-AU 22 30800189 30800189 single base substitution C T intron_variant MELA-AU 22 30803810 30803811 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 30803828 30803828 single base substitution G A intron_variant MELA-AU 22 30804111 30804111 single base substitution G A intron_variant MELA-AU 22 30804184 30804184 single base substitution G A intron_variant MELA-AU 22 30805169 30805169 single base substitution C T intron_variant MELA-AU 22 30805310 30805310 single base substitution G A intron_variant MELA-AU 22 30805378 30805378 single base substitution G A intron_variant MELA-AU 22 30805442 30805442 single base substitution C A intron_variant MELA-AU 22 30807145 30807145 single base substitution G A intron_variant MELA-AU 22 30808837 30808837 single base substitution C A intron_variant MELA-AU 22 30809726 30809726 single base substitution T A intron_variant MELA-AU 22 30809946 30809946 single base substitution G C intron_variant MELA-AU 22 30810043 30810043 single base substitution C T intron_variant MELA-AU 22 30810252 30810252 insertion of <=200bp - T intron_variant MELA-AU 22 30811727 30811727 single base substitution C T intron_variant MELA-AU 22 30812349 30812349 single base substitution G T intron_variant MELA-AU 22 30813402 30813402 single base substitution C T intron_variant MELA-AU 22 30814114 30814114 single base substitution C T intron_variant MELA-AU 22 30814798 30814798 single base substitution C T intron_variant MELA-AU 22 30815448 30815448 single base substitution C T intron_variant MELA-AU 22 30815766 30815766 single base substitution A T intron_variant MELA-AU 22 30816570 30816570 single base substitution C T intron_variant MELA-AU 22 30817135 30817135 single base substitution G A intron_variant MELA-AU 22 30817352 30817352 single base substitution C T intron_variant MELA-AU 22 30817927 30817927 single base substitution C T upstream_gene_variant MELA-AU 22 30818235 30818235 single base substitution G A upstream_gene_variant MELA-AU 22 30818343 30818343 single base substitution G A upstream_gene_variant MELA-AU 22 30820248 30820248 single base substitution A G upstream_gene_variant MELA-AU 22 30821033 30821033 single base substitution T C upstream_gene_variant MELA-AU 22 30821139 30821139 single base substitution G A upstream_gene_variant MELA-AU 22 30821618 30821619 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 30821633 30821633 single base substitution C T upstream_gene_variant MELA-AU 22 30821711 30821711 single base substitution G A upstream_gene_variant MELA-AU 22 30822410 30822410 single base substitution C T upstream_gene_variant MELA-AU 22 30822445 30822445 single base substitution C G upstream_gene_variant MELA-AU 22 30822530 30822530 single base substitution C T upstream_gene_variant ORCA-IN 22 30772457 30772457 single base substitution C A downstream_gene_variant ORCA-IN 22 30782749 30782749 single base substitution C A exon_variant ORCA-IN 22 30782749 30782749 single base substitution C A splice_acceptor_variant ORCA-IN 22 30782749 30782749 single base substitution C A upstream_gene_variant ORCA-IN 22 30797173 30797173 single base substitution G T intron_variant OV-AU 22 30770082 30770082 single base substitution T C downstream_gene_variant OV-AU 22 30775775 30775775 single base substitution C T downstream_gene_variant OV-AU 22 30775775 30775775 single base substitution C T exon_variant OV-AU 22 30775775 30775775 single base substitution C T missense_variant E283K 847G>A OV-AU 22 30775775 30775775 single base substitution C T missense_variant E346K 1036G>A OV-AU 22 30775775 30775775 single base substitution C T upstream_gene_variant OV-AU 22 30791159 30791159 single base substitution C A intron_variant OV-AU 22 30820321 30820321 single base substitution C A upstream_gene_variant OV-AU 22 30821550 30821550 single base substitution C T upstream_gene_variant PACA-AU 22 30770177 30770177 single base substitution C T downstream_gene_variant PACA-AU 22 30775352 30775352 deletion of <=200bp C - 3_prime_UTR_variant PACA-AU 22 30775352 30775352 deletion of <=200bp C - downstream_gene_variant PACA-AU 22 30775352 30775352 deletion of <=200bp C - intron_variant PACA-AU 22 30778200 30778200 single base substitution G C downstream_gene_variant PACA-AU 22 30778200 30778200 single base substitution G C intron_variant PACA-AU 22 30778200 30778200 single base substitution G C upstream_gene_variant PACA-AU 22 30786154 30786154 deletion of <=200bp C - intron_variant PACA-AU 22 30786154 30786154 deletion of <=200bp C - upstream_gene_variant PACA-AU 22 30795301 30795301 single base substitution C T intron_variant PACA-AU 22 30797176 30797179 deletion of <=200bp ATTT - intron_variant PACA-AU 22 30808744 30808744 single base substitution C T intron_variant PACA-AU 22 30809029 30809029 single base substitution A T intron_variant PACA-AU 22 30809287 30809287 single base substitution C A intron_variant PACA-AU 22 30811863 30811863 single base substitution C T intron_variant PACA-AU 22 30819976 30819976 single base substitution G T upstream_gene_variant PACA-CA 22 30769767 30769767 single base substitution T C downstream_gene_variant PACA-CA 22 30770186 30770186 single base substitution A G downstream_gene_variant PACA-CA 22 30770241 30770241 single base substitution G A downstream_gene_variant PACA-CA 22 30772543 30772543 single base substitution C T downstream_gene_variant PACA-CA 22 30775905 30775905 single base substitution C T downstream_gene_variant PACA-CA 22 30775905 30775905 single base substitution C T intron_variant PACA-CA 22 30775905 30775905 single base substitution C T upstream_gene_variant PACA-CA 22 30776322 30776322 single base substitution G C downstream_gene_variant PACA-CA 22 30776322 30776322 single base substitution G C exon_variant PACA-CA 22 30776322 30776322 single base substitution G C synonymous_variant V208V 624C>G PACA-CA 22 30776322 30776322 single base substitution G C synonymous_variant V271V 813C>G PACA-CA 22 30776322 30776322 single base substitution G C upstream_gene_variant PACA-CA 22 30783355 30783355 single base substitution G T 5_prime_UTR_variant PACA-CA 22 30783355 30783355 single base substitution G T intron_variant PACA-CA 22 30783355 30783355 single base substitution G T upstream_gene_variant PACA-CA 22 30784368 30784368 single base substitution C T intron_variant PACA-CA 22 30784368 30784368 single base substitution C T upstream_gene_variant PACA-CA 22 30785637 30785637 single base substitution G A intron_variant PACA-CA 22 30785637 30785637 single base substitution G A upstream_gene_variant PACA-CA 22 30795495 30795532 deletion of <=200bp TCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAACA - intron_variant PACA-CA 22 30797619 30797619 single base substitution C T intron_variant PACA-CA 22 30804573 30804573 insertion of <=200bp - A intron_variant PACA-CA 22 30805272 30805272 single base substitution G T intron_variant PACA-CA 22 30808528 30808528 single base substitution G A intron_variant PACA-CA 22 30811541 30811541 single base substitution T C intron_variant PACA-CA 22 30814453 30814453 single base substitution A T intron_variant PACA-CA 22 30818634 30818634 single base substitution G A upstream_gene_variant PAEN-AU 22 30797176 30797176 insertion of <=200bp - ATTT intron_variant PAEN-IT 22 30806007 30806007 single base substitution C G intron_variant PBCA-DE 22 30789985 30789985 single base substitution A G intron_variant PBCA-DE 22 30793137 30793137 single base substitution G A intron_variant PBCA-DE 22 30793568 30793568 single base substitution G T intron_variant PBCA-DE 22 30795889 30795889 single base substitution G A intron_variant PBCA-DE 22 30797798 30797798 single base substitution C T intron_variant PBCA-DE 22 30798907 30798907 deletion of <=200bp A - intron_variant PBCA-DE 22 30807524 30807524 single base substitution T C intron_variant PRAD-CA 22 30792295 30792295 single base substitution C A intron_variant PRAD-CA 22 30805481 30805481 single base substitution T A intron_variant PRAD-UK 22 30784889 30784889 single base substitution G A intron_variant PRAD-UK 22 30784889 30784889 single base substitution G A upstream_gene_variant PRAD-UK 22 30787897 30787897 single base substitution G T intron_variant PRAD-UK 22 30787897 30787897 single base substitution G T upstream_gene_variant PRAD-UK 22 30787898 30787898 single base substitution G T intron_variant PRAD-UK 22 30787898 30787898 single base substitution G T upstream_gene_variant PRAD-UK 22 30789141 30789141 single base substitution C A intron_variant PRAD-UK 22 30794289 30794289 single base substitution T A intron_variant PRAD-UK 22 30794965 30794965 single base substitution C T intron_variant PRAD-UK 22 30797939 30797939 single base substitution G A intron_variant PRAD-US 22 30776081 30776081 single base substitution C T downstream_gene_variant PRAD-US 22 30776081 30776081 single base substitution C T exon_variant PRAD-US 22 30776081 30776081 single base substitution C T synonymous_variant A263A 789G>A PRAD-US 22 30776081 30776081 single base substitution C T synonymous_variant A326A 978G>A PRAD-US 22 30776081 30776081 single base substitution C T upstream_gene_variant PRAD-US 22 30776149 30776149 single base substitution T C downstream_gene_variant PRAD-US 22 30776149 30776149 single base substitution T C exon_variant PRAD-US 22 30776149 30776149 single base substitution T C missense_variant K241E 721A>G PRAD-US 22 30776149 30776149 single base substitution T C missense_variant K304E 910A>G PRAD-US 22 30776149 30776149 single base substitution T C upstream_gene_variant PRAD-US 22 30812287 30812287 single base substitution G A intron_variant READ-US 22 30772726 30772726 single base substitution C T downstream_gene_variant RECA-EU 22 30781335 30781335 single base substitution C T downstream_gene_variant RECA-EU 22 30781335 30781335 single base substitution C T intron_variant RECA-EU 22 30781335 30781335 single base substitution C T upstream_gene_variant RECA-EU 22 30783680 30783680 single base substitution C T intron_variant RECA-EU 22 30783680 30783680 single base substitution C T upstream_gene_variant RECA-EU 22 30789362 30789362 single base substitution C T intron_variant RECA-EU 22 30791533 30791533 single base substitution C G intron_variant RECA-EU 22 30797817 30797817 single base substitution G C intron_variant RECA-EU 22 30810647 30810647 single base substitution A T intron_variant RECA-EU 22 30816125 30816125 single base substitution A G intron_variant SKCA-BR 22 30771089 30771089 single base substitution G A downstream_gene_variant SKCA-BR 22 30779427 30779427 single base substitution G A downstream_gene_variant SKCA-BR 22 30779427 30779427 single base substitution G A intron_variant SKCA-BR 22 30779427 30779427 single base substitution G A upstream_gene_variant SKCA-BR 22 30779746 30779746 single base substitution A G downstream_gene_variant SKCA-BR 22 30779746 30779746 single base substitution A G intron_variant SKCA-BR 22 30779746 30779746 single base substitution A G upstream_gene_variant SKCA-BR 22 30781305 30781305 single base substitution G A downstream_gene_variant SKCA-BR 22 30781305 30781305 single base substitution G A intron_variant SKCA-BR 22 30781305 30781305 single base substitution G A upstream_gene_variant SKCA-BR 22 30782057 30782057 single base substitution A C splice_donor_variant SKCA-BR 22 30782057 30782057 single base substitution A C upstream_gene_variant SKCA-BR 22 30782117 30782117 single base substitution A G exon_variant SKCA-BR 22 30782117 30782117 single base substitution A G missense_variant L148P 443T>C SKCA-BR 22 30782117 30782117 single base substitution A G missense_variant L53P 158T>C SKCA-BR 22 30782117 30782117 single base substitution A G missense_variant L85P 254T>C SKCA-BR 22 30782117 30782117 single base substitution A G upstream_gene_variant SKCA-BR 22 30783358 30783358 single base substitution G C 5_prime_UTR_variant SKCA-BR 22 30783358 30783358 single base substitution G C intron_variant SKCA-BR 22 30783358 30783358 single base substitution G C upstream_gene_variant SKCA-BR 22 30790165 30790165 single base substitution G A intron_variant SKCA-BR 22 30791770 30791770 single base substitution G C intron_variant SKCA-BR 22 30793137 30793137 single base substitution G A intron_variant SKCA-BR 22 30793276 30793276 single base substitution A G intron_variant SKCA-BR 22 30799059 30799059 single base substitution C T intron_variant SKCA-BR 22 30803517 30803517 single base substitution C T intron_variant SKCA-BR 22 30805399 30805399 single base substitution G A intron_variant SKCA-BR 22 30808821 30808821 single base substitution A C intron_variant SKCA-BR 22 30810429 30810429 single base substitution C A intron_variant SKCM-US 22 30770064 30770064 single base substitution C G downstream_gene_variant SKCM-US 22 30771580 30771580 single base substitution A G downstream_gene_variant SKCM-US 22 30772336 30772336 single base substitution G A downstream_gene_variant SKCM-US 22 30780394 30780394 single base substitution G A downstream_gene_variant SKCM-US 22 30780394 30780394 single base substitution G A exon_variant SKCM-US 22 30780394 30780394 single base substitution G A synonymous_variant L163L 489C>T SKCM-US 22 30780394 30780394 single base substitution G A synonymous_variant L226L 678C>T SKCM-US 22 30780394 30780394 single base substitution G A upstream_gene_variant SKCM-US 22 30806637 30806637 single base substitution G A intron_variant SKCM-US 22 30812060 30812060 single base substitution C T intron_variant SKCM-US 22 30812280 30812280 single base substitution G A intron_variant STAD-US 22 30769736 30769736 single base substitution C A downstream_gene_variant STAD-US 22 30771488 30771488 single base substitution G A downstream_gene_variant STAD-US 22 30772518 30772518 single base substitution A T downstream_gene_variant STAD-US 22 30776051 30776051 single base substitution C T downstream_gene_variant STAD-US 22 30776051 30776051 single base substitution C T splice_region_variant STAD-US 22 30776051 30776051 single base substitution C T upstream_gene_variant STAD-US 22 30776328 30776328 single base substitution G A downstream_gene_variant STAD-US 22 30776328 30776328 single base substitution G A exon_variant STAD-US 22 30776328 30776328 single base substitution G A synonymous_variant L206L 618C>T STAD-US 22 30776328 30776328 single base substitution G A synonymous_variant L269L 807C>T STAD-US 22 30776328 30776328 single base substitution G A upstream_gene_variant STAD-US 22 30780336 30780336 single base substitution G T downstream_gene_variant STAD-US 22 30780336 30780336 single base substitution G T exon_variant STAD-US 22 30780336 30780336 single base substitution G T missense_variant Q183K 547C>A STAD-US 22 30780336 30780336 single base substitution G T missense_variant Q246K 736C>A STAD-US 22 30780336 30780336 single base substitution G T upstream_gene_variant STAD-US 22 30781958 30781958 single base substitution C T exon_variant STAD-US 22 30781958 30781958 single base substitution C T synonymous_variant L111L 333G>A STAD-US 22 30781958 30781958 single base substitution C T synonymous_variant L174L 522G>A STAD-US 22 30781958 30781958 single base substitution C T synonymous_variant L79L 237G>A STAD-US 22 30781958 30781958 single base substitution C T upstream_gene_variant STAD-US 22 30802355 30802355 single base substitution C T intron_variant STAD-US 22 30812329 30812329 single base substitution C T intron_variant STAD-US 22 30812384 30812384 single base substitution C A intron_variant THCA-SA 22 30782731 30782731 single base substitution G A exon_variant THCA-SA 22 30782731 30782731 single base substitution G A synonymous_variant A101A 303C>T THCA-SA 22 30782731 30782731 single base substitution G A synonymous_variant A38A 114C>T THCA-SA 22 30782731 30782731 single base substitution G A synonymous_variant A6A 18C>T THCA-SA 22 30782731 30782731 single base substitution G A upstream_gene_variant THCA-US 22 30782087 30782089 deletion of <=200bp AGA - disruptive_inframe_deletion LL157L THCA-US 22 30782087 30782089 deletion of <=200bp AGA - disruptive_inframe_deletion LL62L THCA-US 22 30782087 30782089 deletion of <=200bp AGA - disruptive_inframe_deletion LL94L THCA-US 22 30782087 30782089 deletion of <=200bp AGA - exon_variant THCA-US 22 30782087 30782089 deletion of <=200bp AGA - upstream_gene_variant THCA-US 22 30812008 30812008 single base substitution C T intron_variant UCEC-US 22 30769669 30769669 single base substitution C T downstream_gene_variant UCEC-US 22 30769913 30769913 single base substitution A G downstream_gene_variant UCEC-US 22 30772324 30772324 single base substitution G T downstream_gene_variant UCEC-US 22 30772483 30772483 single base substitution T A downstream_gene_variant UCEC-US 22 30772570 30772570 single base substitution C T downstream_gene_variant UCEC-US 22 30772688 30772688 single base substitution G A downstream_gene_variant UCEC-US 22 30776163 30776163 single base substitution C T downstream_gene_variant UCEC-US 22 30776163 30776163 single base substitution C T exon_variant UCEC-US 22 30776163 30776163 single base substitution C T missense_variant R236K 707G>A UCEC-US 22 30776163 30776163 single base substitution C T missense_variant R299K 896G>A UCEC-US 22 30776163 30776163 single base substitution C T upstream_gene_variant UCEC-US 22 30776178 30776178 single base substitution C T downstream_gene_variant UCEC-US 22 30776178 30776178 single base substitution C T exon_variant UCEC-US 22 30776178 30776178 single base substitution C T missense_variant R231H 692G>A UCEC-US 22 30776178 30776178 single base substitution C T missense_variant R294H 881G>A UCEC-US 22 30776178 30776178 single base substitution C T upstream_gene_variant UCEC-US 22 30782611 30782611 single base substitution G T exon_variant UCEC-US 22 30782611 30782611 single base substitution G T synonymous_variant V141V 423C>A UCEC-US 22 30782611 30782611 single base substitution G T synonymous_variant V46V 138C>A UCEC-US 22 30782611 30782611 single base substitution G T synonymous_variant V78V 234C>A UCEC-US 22 30782611 30782611 single base substitution G T upstream_gene_variant UCEC-US 22 30803470 30803470 single base substitution G A intron_variant UCEC-US 22 30805418 30805418 single base substitution C A intron_variant UCEC-US 22 30805457 30805457 single base substitution C T intron_variant UCEC-US 22 30812296 30812296 single base substitution C T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-49-T COSM4560978 c.864G>A p.Q288Q Substitution - coding silent 22:30380282-30380282 - OSCC-GB_00050111 COSM3713670 c.286-1G>T p.? Unknown 22:30386760-30386760 - TCGA-FJ-A3ZE-01 COSM3800131 c.674G>A p.G225D Substitution - Missense 22:30384409-30384409 - TCGA-B5-A0K6-01 COSM1033278 c.434G>T p.R145L Substitution - Missense 22:30386137-30386137 - YUKIL COSM1714267 c.472C>T p.L158F Substitution - Missense 22:30386099-30386099 - CHC1531T COSM4804882 c.823C>T p.R275W Substitution - Missense 22:30380323-30380323 - GB02 COSM1744281 c.983G>T p.C328F Substitution - Missense 22:30380087-30380087 - Pat_73_A COSM5859160 c.80_82delTGC p.L27delL Deletion - In frame 22:30387232-30387234 - TCGA-EB-A44Q-06 COSM3553295 c.678C>T p.L226L Substitution - coding silent 22:30384405-30384405 - JVM-2 COSM1740773 c.653T>G p.L218W Substitution - Missense 22:30384430-30384430 - BD8T COSM5499599 c.330G>T p.W110C Substitution - Missense 22:30386715-30386715 - AOCS-108-1-7 COSM4137384 c.1036G>A p.E346K Substitution - Missense 22:30379786-30379786 - STC252 COSM5057760 c.920G>A p.R307H Substitution - Missense 22:30380150-30380150 - TCGA-BR-6452-01 COSM4103434 c.522G>A p.L174L Substitution - coding silent 22:30385969-30385969 - ESCC_165 COSM5648517 c.886G>A p.V296M Substitution - Missense 22:30380184-30380184 - TCGA-D8-A1XK-01 COSM3842463 c.1097A>T p.K366I Substitution - Missense 22:30379725-30379725 - TARGET-30-PANLET COSM1287665 c.892C>T p.R298W Substitution - Missense 22:30380178-30380178 - PCSI_0352_Pa_P_526 COSM3785523 c.813C>G p.V271V Substitution - coding silent 22:30380333-30380333 - TCGA-D1-A103-01 COSM1033279 c.423C>A p.V141V Substitution - coding silent 22:30386622-30386622 - 66 COSM5744088 c.364G>A p.A122T Substitution - Missense 22:30386681-30386681 - TCGA-BR-4257-01 COSM4103433 c.736C>A p.Q246K Substitution - Missense 22:30384347-30384347 - PT25 COSM4002139 c.964G>A p.A322T Substitution - Missense 22:30380106-30380106 - TCGA-EJ-7782-01 COSM3783549 c.910A>G p.K304E Substitution - Missense 22:30380160-30380160 - CPCG0103-P6 COSM3396403 c.332T>C p.I111T Substitution - Missense 22:30386713-30386713 - ATL075 COSM5707625 c.1008G>T p.Q336H Substitution - Missense 22:30380062-30380062 - TCGA-AP-A059-01 COSM1033277 c.881G>A p.R294H Substitution - Missense 22:30380189-30380189 - sysucc-826T COSM3740395 c.471T>C p.L157L Substitution - coding silent 22:30386100-30386100 - SNUH_G45_S1 COSM4002139 c.964G>A p.A322T Substitution - Missense 22:30380106-30380106 - ASHPC_0008_Pa_P COSM3785523 c.813C>G p.V271V Substitution - coding silent 22:30380333-30380333 - PT50 COSM5937904 c.502-7C>T p.? Unknown 22:30385996-30385996 - TCGA-EW-A1J6-01 COSM1484150 c.1093_1094delTG p.C365fs*12 Deletion - Frameshift 22:30379728-30379729 - TCGA-G4-6297-01 COSM3759121 c.303C>T p.A101A Substitution - coding silent 22:30386742-30386742 - 5T COSM3713670 c.286-1G>T p.? Unknown 22:30386760-30386760 - HCC49 COSM3708206 c.104G>A p.G35D Substitution - Missense 22:30387210-30387210 - RK304_C01 COSM4779051 c.487A>T p.N163Y Substitution - Missense 22:30386084-30386084 - HCC49T COSM3708206 c.104G>A p.G35D Substitution - Missense 22:30387210-30387210 - CSCC-11-T COSM4499231 c.537C>T p.I179I Substitution - coding silent 22:30385954-30385954 - DLD1 COSM4624633 c.738G>T p.Q246H Substitution - Missense 22:30384345-30384345 - YUKLAB COSM1714266 c.811G>A p.V271I Substitution - Missense 22:30380335-30380335 - ESO-0292 COSM1241681 c.686A>G p.D229G Substitution - Missense 22:30384397-30384397 - Br27P COSM40267 c.564C>T p.T188T Substitution - coding silent 22:30385927-30385927 - BD180T COSM5495246 c.144G>C p.P48P Substitution - coding silent 22:30387170-30387170 - CPCG0103-P3 COSM3396403 c.332T>C p.I111T Substitution - Missense 22:30386713-30386713 - TCGA-EJ-7782-01 COSM3783548 c.978G>A p.A326A Substitution - coding silent 22:30380092-30380092 - TCGA-G9-6333-01 COSM3673253 c.978G>T p.A326A Substitution - coding silent 22:30380092-30380092 - TCGA-BT-A3PH-01 COSM1308061 c.685G>C p.D229H Substitution - Missense 22:30384398-30384398 - I2L-P7-Tumor-Organoid COSM5366575 c.1005A>G p.K335K Substitution - coding silent 22:30380065-30380065 - ESCC_120 COSM5640448 c.250G>A p.D84N Substitution - Missense 22:30387064-30387064 - RK155_C01 COSM3740395 c.471T>C p.L157L Substitution - coding silent 22:30386100-30386100 - PTC-6C COSM4002139 c.964G>A p.A322T Substitution - Missense 22:30380106-30380106 - CHC1531T COSM4804882 c.823C>T p.R275W Substitution - Missense 22:30380323-30380323 - TCGA-B5-A0K9-01 COSM1033276 c.896G>A p.R299K Substitution - Missense 22:30380174-30380174 - TCGA-BR-7851-01 COSM4103432 c.1008G>A p.Q336Q Substitution - coding silent 22:30380062-30380062 - CPCG0103-P5 COSM3396403 c.332T>C p.I111T Substitution - Missense 22:30386713-30386713 - SNUH_G45_S1 COSM3759121 c.303C>T p.A101A Substitution - coding silent 22:30386742-30386742 - LPJ108 COSM1316509 c.833C>T p.S278L Substitution - Missense 22:30380313-30380313 - PTC-7C COSM3759121 c.303C>T p.A101A Substitution - coding silent 22:30386742-30386742 - TCGA-D8-A1XO-01 COSM1484151 c.1067T>A p.L356Q Substitution - Missense 22:30379755-30379755 - T17 COSM3740395 c.471T>C p.L157L Substitution - coding silent 22:30386100-30386100 - TCGA-AG-A025-01 COSM290396 c.960G>A p.P320P Substitution - coding silent 22:30380110-30380110 - TCGA-HU-A4G9-01 COSM2937060 c.807C>T p.L269L Substitution - coding silent 22:30380339-30380339 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592194 22q12.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGA - InFrameDeletion p.L158delL c.471_473delTCT 22 30782087 THCA A T Missense p.L356Q c.1067T>A 22 30775744 BRCA CA - Frameshift p.C365Qfs*12 c.1093_1094delTG 22 30775717 BRCA C A Synonymous p.A326A c.978G>T 22 30776081 PRAD C G Missense p.D229H c.685G>C 22 30780387 BLCA C T Missense p.R299K c.896G>A 22 30776163 UCEC C T Synonymous p.P320P c.960G>A 22 30776099 COREAD G A IntronicSNV . c.588-80C>T 22 30780564 CM G A Missense p.A122V c.365C>T 22 30782669 HNSC G A Synonymous p.L140L c.418C>T 22 30782616 CM G A Synonymous p.L285L c.855C>T 22 30776280 CM G T Missense p.Q246K c.736C>A 22 30780336 STAD T A Synonymous p.P106P c.318A>T 22 30782716 LUAD