Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 36611666 36611666 + Missense_Mutation SNP G G A TCGA-OR-A5L1-01A-11D-A30A-10 TCGA-OR-A5L1-10A-01D-A30A-10 g.chr19:36611666G>A c.313G>A c.(313-315)Gag>Aag p.E105K BLCA 19 36606495 36606495 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr19:36606495G>A c.33G>A c.(31-33)gtG>gtA p.V11V BLCA 19 36606535 36606535 + Missense_Mutation SNP G G C TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr19:36606535G>C c.73G>C c.(73-75)Gag>Cag p.E25Q BRCA 19 36611614 36611614 + Silent SNP C C T TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chr19:36611614C>T c.261C>T c.(259-261)gtC>gtT p.V87V CESC 19 36606994 36606994 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 g.chr19:36606994C>G c.166C>G c.(166-168)Ctg>Gtg p.L56V COAD 19 36606546 36606546 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:36606546C>T c.84C>T c.(82-84)taC>taT p.Y28Y COAD 19 36616584 36616584 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:36616584G>A c.635G>A c.(634-636)cGc>cAc p.R212H COAD 19 36616597 36616597 + Silent SNP C C T TCGA-AA-3532-01A-01W-0831-10 TCGA-AA-3532-10A-01W-0831-10 g.chr19:36616597C>T c.648C>T c.(646-648)tgC>tgT p.C216C COADREAD 19 36606546 36606546 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:36606546C>T c.84C>T c.(82-84)taC>taT p.Y28Y COADREAD 19 36616584 36616584 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:36616584G>A c.635G>A c.(634-636)cGc>cAc p.R212H COADREAD 19 36616597 36616597 + Silent SNP C C T TCGA-AA-3532-01A-01W-0831-10 TCGA-AA-3532-10A-01W-0831-10 g.chr19:36616597C>T c.648C>T c.(646-648)tgC>tgT p.C216C COADREAD 19 36616654 36616654 + Silent SNP G G A TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr19:36616654G>A c.705G>A c.(703-705)ccG>ccA p.P235P ESCA 19 36612449 36612449 + Missense_Mutation SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr19:36612449A>G c.376A>G c.(376-378)Aag>Gag p.K126E HNSC 19 36616423 36616423 + Silent SNP C C G TCGA-F7-A50G-01A-11D-A25Y-08 TCGA-F7-A50G-10A-01D-A25Y-08 g.chr19:36616423C>G c.618C>G c.(616-618)ggC>ggG p.G206G KIPAN 19 36606528 36606528 + Missense_Mutation SNP C C G TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr19:36606528C>G c.66C>G c.(64-66)ttC>ttG p.F22L KIPAN 19 36606539 36606539 + Missense_Mutation SNP A A T TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr19:36606539A>T c.77A>T c.(76-78)aAg>aTg p.K26M KIPAN 19 36611673 36611673 + Missense_Mutation SNP A A T TCGA-CJ-4876-01A-01D-1373-10 TCGA-CJ-4876-11A-01D-1373-10 g.chr19:36611673A>T c.320A>T c.(319-321)tAc>tTc p.Y107F KIRC 19 36611673 36611673 + Missense_Mutation SNP A A T TCGA-CJ-4876-01A-01D-1373-10 TCGA-CJ-4876-11A-01D-1373-10 g.chr19:36611673A>T c.320A>T c.(319-321)tAc>tTc p.Y107F KIRP 19 36606528 36606528 + Missense_Mutation SNP C C G TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr19:36606528C>G c.66C>G c.(64-66)ttC>ttG p.F22L KIRP 19 36606539 36606539 + Missense_Mutation SNP A A T TCGA-A4-A5Y1-01A-11D-A28G-10 TCGA-A4-A5Y1-11A-11D-A28G-10 g.chr19:36606539A>T c.77A>T c.(76-78)aAg>aTg p.K26M LUSC 19 36611661 36611661 + Missense_Mutation SNP G G C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr19:36611661G>C c.308G>C c.(307-309)cGg>cCg p.R103P PAAD 19 36616597 36616597 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 g.chr19:36616597C>T c.648C>T c.(646-648)tgC>tgT p.C216C READ 19 36616654 36616654 + Silent SNP G G A TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr19:36616654G>A c.705G>A c.(703-705)ccG>ccA p.P235P SARC 19 36606551 36606551 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 g.chr19:36606551G>A c.89G>A c.(88-90)cGc>cAc p.R30H SKCM 19 36612445 36612445 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr19:36612445C>T c.372C>T c.(370-372)ttC>ttT p.F124F SKCM 19 36616592 36616592 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr19:36616592G>A c.643G>A c.(643-645)Gaa>Aaa p.E215K SKCM 19 36616633 36616633 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:36616633C>T c.684C>T c.(682-684)gtC>gtT p.V228V

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 19 36605572 36605572 single base substitution G C intron_variant BLCA-CN 19 36605572 36605572 single base substitution G C upstream_gene_variant BLCA-CN 19 36611618 36611618 single base substitution G A 3_prime_UTR_variant BLCA-CN 19 36611618 36611618 single base substitution G A downstream_gene_variant BLCA-CN 19 36611618 36611618 single base substitution G A exon_variant BLCA-CN 19 36611618 36611618 single base substitution G A intron_variant BLCA-CN 19 36611618 36611618 single base substitution G A missense_variant D118N 352G>A BLCA-CN 19 36611618 36611618 single base substitution G A missense_variant D38N 112G>A BLCA-CN 19 36611618 36611618 single base substitution G A missense_variant D89N 265G>A BLCA-CN 19 36611618 36611618 single base substitution G A upstream_gene_variant BRCA-EU 19 36600278 36600278 single base substitution C T upstream_gene_variant BRCA-EU 19 36603347 36603347 single base substitution G A upstream_gene_variant BRCA-EU 19 36606199 36606199 single base substitution C T 5_prime_UTR_variant BRCA-EU 19 36606199 36606199 single base substitution C T exon_variant BRCA-EU 19 36606199 36606199 single base substitution C T upstream_gene_variant BRCA-EU 19 36607094 36607095 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 19 36607094 36607095 deletion of <=200bp CT - exon_variant BRCA-EU 19 36607094 36607095 deletion of <=200bp CT - intron_variant BRCA-EU 19 36607094 36607095 deletion of <=200bp CT - splice_region_variant BRCA-EU 19 36607094 36607095 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 19 36607892 36607892 single base substitution G A downstream_gene_variant BRCA-EU 19 36607892 36607892 single base substitution G A intron_variant BRCA-EU 19 36607892 36607892 single base substitution G A upstream_gene_variant BRCA-EU 19 36608235 36608235 single base substitution C G downstream_gene_variant BRCA-EU 19 36608235 36608235 single base substitution C G intron_variant BRCA-EU 19 36608235 36608235 single base substitution C G upstream_gene_variant BRCA-EU 19 36608931 36608931 single base substitution G T downstream_gene_variant BRCA-EU 19 36608931 36608931 single base substitution G T intron_variant BRCA-EU 19 36608931 36608931 single base substitution G T upstream_gene_variant BRCA-EU 19 36610856 36610856 single base substitution G A downstream_gene_variant BRCA-EU 19 36610856 36610856 single base substitution G A intron_variant BRCA-EU 19 36610856 36610856 single base substitution G A upstream_gene_variant BRCA-EU 19 36612575 36612575 single base substitution C T downstream_gene_variant BRCA-EU 19 36612575 36612575 single base substitution C T exon_variant BRCA-EU 19 36612575 36612575 single base substitution C T intron_variant BRCA-EU 19 36612575 36612575 single base substitution C T missense_variant R117W 349C>T BRCA-EU 19 36612575 36612575 single base substitution C T missense_variant R168W 502C>T BRCA-EU 19 36612575 36612575 single base substitution C T splice_region_variant BRCA-EU 19 36612575 36612575 single base substitution C T upstream_gene_variant BRCA-EU 19 36613067 36613067 single base substitution C T downstream_gene_variant BRCA-EU 19 36613067 36613067 single base substitution C T exon_variant BRCA-EU 19 36613067 36613067 single base substitution C T intron_variant BRCA-EU 19 36616681 36616681 single base substitution A G 3_prime_UTR_variant BRCA-EU 19 36616681 36616681 single base substitution A G downstream_gene_variant BRCA-EU 19 36616681 36616681 single base substitution A G exon_variant BRCA-EU 19 36616681 36616681 single base substitution A G missense_variant I193M 579A>G BRCA-EU 19 36616681 36616681 single base substitution A G missense_variant I244M 732A>G BRCA-EU 19 36620324 36620324 deletion of <=200bp A - downstream_gene_variant BRCA-FR 19 36606199 36606199 single base substitution C T 5_prime_UTR_variant BRCA-FR 19 36606199 36606199 single base substitution C T exon_variant BRCA-FR 19 36606199 36606199 single base substitution C T upstream_gene_variant BRCA-FR 19 36612575 36612575 single base substitution C T downstream_gene_variant BRCA-FR 19 36612575 36612575 single base substitution C T exon_variant BRCA-FR 19 36612575 36612575 single base substitution C T intron_variant BRCA-FR 19 36612575 36612575 single base substitution C T missense_variant R117W 349C>T BRCA-FR 19 36612575 36612575 single base substitution C T missense_variant R168W 502C>T BRCA-FR 19 36612575 36612575 single base substitution C T splice_region_variant BRCA-FR 19 36612575 36612575 single base substitution C T upstream_gene_variant BRCA-US 19 36611614 36611614 single base substitution C T downstream_gene_variant BRCA-US 19 36611614 36611614 single base substitution C T exon_variant BRCA-US 19 36611614 36611614 single base substitution C T intron_variant BRCA-US 19 36611614 36611614 single base substitution C T splice_region_variant BRCA-US 19 36611614 36611614 single base substitution C T upstream_gene_variant BRCA-US 19 36611663 36611663 single base substitution G T 3_prime_UTR_variant BRCA-US 19 36611663 36611663 single base substitution G T downstream_gene_variant BRCA-US 19 36611663 36611663 single base substitution G T exon_variant BRCA-US 19 36611663 36611663 single base substitution G T intron_variant BRCA-US 19 36611663 36611663 single base substitution G T missense_variant V104L 310G>T BRCA-US 19 36611663 36611663 single base substitution G T missense_variant V133L 397G>T BRCA-US 19 36611663 36611663 single base substitution G T missense_variant V53L 157G>T BRCA-US 19 36611663 36611663 single base substitution G T upstream_gene_variant BTCA-JP 19 36602450 36602450 single base substitution G A upstream_gene_variant BTCA-JP 19 36604552 36604552 single base substitution C T upstream_gene_variant BTCA-JP 19 36612829 36612829 single base substitution C T downstream_gene_variant BTCA-JP 19 36612829 36612829 single base substitution C T exon_variant BTCA-JP 19 36612829 36612829 single base substitution C T intron_variant BTCA-JP 19 36616480 36616480 single base substitution C T downstream_gene_variant BTCA-JP 19 36616480 36616480 single base substitution C T intron_variant CESC-US 19 36602321 36602321 single base substitution G A upstream_gene_variant CESC-US 19 36605678 36605678 single base substitution T C intron_variant CESC-US 19 36605678 36605678 single base substitution T C upstream_gene_variant CESC-US 19 36606994 36606994 single base substitution C G downstream_gene_variant CESC-US 19 36606994 36606994 single base substitution C G exon_variant CESC-US 19 36606994 36606994 single base substitution C G missense_variant L39V 115C>G CESC-US 19 36606994 36606994 single base substitution C G missense_variant L56V 166C>G CESC-US 19 36606994 36606994 single base substitution C G missense_variant L5V 13C>G CESC-US 19 36606994 36606994 single base substitution C G upstream_gene_variant CESC-US 19 36612624 36612624 single base substitution C T downstream_gene_variant CESC-US 19 36612624 36612624 single base substitution C T exon_variant CESC-US 19 36612624 36612624 single base substitution C T intron_variant CESC-US 19 36612624 36612624 single base substitution C T splice_region_variant CESC-US 19 36612624 36612624 single base substitution C T upstream_gene_variant CLLE-ES 19 36603478 36603478 single base substitution A C upstream_gene_variant CLLE-ES 19 36604128 36604128 single base substitution A G upstream_gene_variant CLLE-ES 19 36615781 36615781 single base substitution T G downstream_gene_variant CLLE-ES 19 36615781 36615781 single base substitution T G intron_variant COAD-US 19 36605285 36605285 single base substitution G T exon_variant COAD-US 19 36605285 36605285 single base substitution G T upstream_gene_variant COAD-US 19 36606546 36606546 single base substitution C T downstream_gene_variant COAD-US 19 36606546 36606546 single base substitution C T exon_variant COAD-US 19 36606546 36606546 single base substitution C T synonymous_variant Y11Y 33C>T COAD-US 19 36606546 36606546 single base substitution C T synonymous_variant Y28Y 84C>T COAD-US 19 36606546 36606546 single base substitution C T upstream_gene_variant COAD-US 19 36607021 36607021 single base substitution A G downstream_gene_variant COAD-US 19 36607021 36607021 single base substitution A G exon_variant COAD-US 19 36607021 36607021 single base substitution A G missense_variant S14G 40A>G COAD-US 19 36607021 36607021 single base substitution A G missense_variant S48G 142A>G COAD-US 19 36607021 36607021 single base substitution A G missense_variant S65G 193A>G COAD-US 19 36607021 36607021 single base substitution A G upstream_gene_variant COAD-US 19 36616576 36616576 single base substitution T A 3_prime_UTR_variant COAD-US 19 36616576 36616576 single base substitution T A downstream_gene_variant COAD-US 19 36616576 36616576 single base substitution T A exon_variant COAD-US 19 36616576 36616576 single base substitution T A missense_variant N158K 474T>A COAD-US 19 36616576 36616576 single base substitution T A missense_variant N209K 627T>A COAD-US 19 36616584 36616584 single base substitution G A 3_prime_UTR_variant COAD-US 19 36616584 36616584 single base substitution G A downstream_gene_variant COAD-US 19 36616584 36616584 single base substitution G A exon_variant COAD-US 19 36616584 36616584 single base substitution G A missense_variant R161H 482G>A COAD-US 19 36616584 36616584 single base substitution G A missense_variant R212H 635G>A COCA-CN 19 36602097 36602097 single base substitution C T upstream_gene_variant COCA-CN 19 36605165 36605165 single base substitution C A upstream_gene_variant COCA-CN 19 36605359 36605359 single base substitution C A intron_variant COCA-CN 19 36605359 36605359 single base substitution C A upstream_gene_variant COCA-CN 19 36605513 36605513 single base substitution G A intron_variant COCA-CN 19 36605513 36605513 single base substitution G A upstream_gene_variant COCA-CN 19 36605610 36605610 single base substitution T C intron_variant COCA-CN 19 36605610 36605610 single base substitution T C upstream_gene_variant COCA-CN 19 36616308 36616308 single base substitution C A downstream_gene_variant COCA-CN 19 36616308 36616308 single base substitution C A intron_variant EOPC-DE 19 36610298 36610298 single base substitution A C downstream_gene_variant EOPC-DE 19 36610298 36610298 single base substitution A C intron_variant EOPC-DE 19 36610298 36610298 single base substitution A C upstream_gene_variant ESAD-UK 19 36601279 36601279 single base substitution A G upstream_gene_variant ESAD-UK 19 36601464 36601464 single base substitution G C upstream_gene_variant ESAD-UK 19 36603113 36603113 insertion of <=200bp - A upstream_gene_variant ESAD-UK 19 36603602 36603602 single base substitution G A upstream_gene_variant ESAD-UK 19 36603721 36603721 single base substitution G A upstream_gene_variant ESAD-UK 19 36605841 36605841 single base substitution G T intron_variant ESAD-UK 19 36605841 36605841 single base substitution G T upstream_gene_variant ESAD-UK 19 36606478 36606478 single base substitution G A downstream_gene_variant ESAD-UK 19 36606478 36606478 single base substitution G A exon_variant ESAD-UK 19 36606478 36606478 single base substitution G A missense_variant V6M 16G>A ESAD-UK 19 36606478 36606478 single base substitution G A upstream_gene_variant ESAD-UK 19 36607429 36607429 insertion of <=200bp - AG downstream_gene_variant ESAD-UK 19 36607429 36607429 insertion of <=200bp - AG exon_variant ESAD-UK 19 36607429 36607429 insertion of <=200bp - AG intron_variant ESAD-UK 19 36607429 36607429 insertion of <=200bp - AG upstream_gene_variant ESAD-UK 19 36608260 36608260 single base substitution G C downstream_gene_variant ESAD-UK 19 36608260 36608260 single base substitution G C intron_variant ESAD-UK 19 36608260 36608260 single base substitution G C upstream_gene_variant ESAD-UK 19 36609629 36609629 single base substitution C A downstream_gene_variant ESAD-UK 19 36609629 36609629 single base substitution C A intron_variant ESAD-UK 19 36609629 36609629 single base substitution C A upstream_gene_variant ESAD-UK 19 36610015 36610015 single base substitution G A downstream_gene_variant ESAD-UK 19 36610015 36610015 single base substitution G A intron_variant ESAD-UK 19 36610015 36610015 single base substitution G A upstream_gene_variant ESAD-UK 19 36613447 36613447 single base substitution G A downstream_gene_variant ESAD-UK 19 36613447 36613447 single base substitution G A intron_variant ESAD-UK 19 36613958 36613958 single base substitution G C downstream_gene_variant ESAD-UK 19 36613958 36613958 single base substitution G C intron_variant ESAD-UK 19 36615419 36615419 single base substitution G A downstream_gene_variant ESAD-UK 19 36615419 36615419 single base substitution G A intron_variant ESAD-UK 19 36616913 36616913 single base substitution C T downstream_gene_variant ESAD-UK 19 36617173 36617173 single base substitution A C downstream_gene_variant ESAD-UK 19 36618933 36618933 single base substitution C A downstream_gene_variant ESAD-UK 19 36619798 36619798 single base substitution G A downstream_gene_variant ESAD-UK 19 36620889 36620889 single base substitution T C downstream_gene_variant ESAD-UK 19 36621115 36621115 single base substitution G C downstream_gene_variant ESCA-CN 19 36603703 36603703 single base substitution T A upstream_gene_variant ESCA-CN 19 36604736 36604736 deletion of <=200bp A - upstream_gene_variant ESCA-CN 19 36605273 36605273 single base substitution G T exon_variant ESCA-CN 19 36605273 36605273 single base substitution G T upstream_gene_variant KIRC-US 19 36605736 36605736 single base substitution T A intron_variant KIRC-US 19 36605736 36605736 single base substitution T A upstream_gene_variant KIRC-US 19 36611673 36611673 single base substitution A T 3_prime_UTR_variant KIRC-US 19 36611673 36611673 single base substitution A T downstream_gene_variant KIRC-US 19 36611673 36611673 single base substitution A T exon_variant KIRC-US 19 36611673 36611673 single base substitution A T intron_variant KIRC-US 19 36611673 36611673 single base substitution A T missense_variant Y107F 320A>T KIRC-US 19 36611673 36611673 single base substitution A T missense_variant Y56F 167A>T KIRC-US 19 36611673 36611673 single base substitution A T upstream_gene_variant KIRP-US 19 36606528 36606528 single base substitution C G downstream_gene_variant KIRP-US 19 36606528 36606528 single base substitution C G exon_variant KIRP-US 19 36606528 36606528 single base substitution C G missense_variant F22L 66C>G KIRP-US 19 36606528 36606528 single base substitution C G missense_variant F5L 15C>G KIRP-US 19 36606528 36606528 single base substitution C G upstream_gene_variant KIRP-US 19 36606539 36606539 single base substitution A T downstream_gene_variant KIRP-US 19 36606539 36606539 single base substitution A T exon_variant KIRP-US 19 36606539 36606539 single base substitution A T missense_variant K26M 77A>T KIRP-US 19 36606539 36606539 single base substitution A T missense_variant K9M 26A>T KIRP-US 19 36606539 36606539 single base substitution A T upstream_gene_variant LAML-KR 19 36617303 36617303 single base substitution G A downstream_gene_variant LICA-CN 19 36605573 36605573 single base substitution A C intron_variant LICA-CN 19 36605573 36605573 single base substitution A C upstream_gene_variant LICA-FR 19 36605249 36605249 single base substitution G A exon_variant LICA-FR 19 36605249 36605249 single base substitution G A upstream_gene_variant LICA-FR 19 36612102 36612102 deletion of <=200bp T - downstream_gene_variant LICA-FR 19 36612102 36612102 deletion of <=200bp T - intron_variant LICA-FR 19 36612102 36612102 deletion of <=200bp T - upstream_gene_variant LICA-FR 19 36616203 36616203 single base substitution C G downstream_gene_variant LICA-FR 19 36616203 36616203 single base substitution C G intron_variant LICA-FR 19 36618663 36618663 single base substitution T G downstream_gene_variant LIHC-US 19 36604924 36604924 single base substitution C T upstream_gene_variant LIHC-US 19 36605106 36605106 single base substitution G T upstream_gene_variant LINC-JP 19 36601062 36601062 single base substitution C T upstream_gene_variant LINC-JP 19 36602089 36602089 single base substitution G C upstream_gene_variant LINC-JP 19 36603708 36603708 single base substitution C T upstream_gene_variant LINC-JP 19 36605261 36605261 single base substitution G C exon_variant LINC-JP 19 36605261 36605261 single base substitution G C upstream_gene_variant LINC-JP 19 36605602 36605602 single base substitution A G intron_variant LINC-JP 19 36605602 36605602 single base substitution A G upstream_gene_variant LIRI-JP 19 36600217 36600217 deletion of <=200bp C - upstream_gene_variant LIRI-JP 19 36601660 36601660 single base substitution G T upstream_gene_variant LIRI-JP 19 36601985 36601985 single base substitution T C upstream_gene_variant LIRI-JP 19 36602617 36602617 single base substitution G C upstream_gene_variant LIRI-JP 19 36603796 36603796 single base substitution C T upstream_gene_variant LIRI-JP 19 36604163 36604163 single base substitution G C upstream_gene_variant LIRI-JP 19 36604435 36604435 single base substitution C T upstream_gene_variant LIRI-JP 19 36605326 36605326 single base substitution C A intron_variant LIRI-JP 19 36605326 36605326 single base substitution C A upstream_gene_variant LIRI-JP 19 36605394 36605394 single base substitution C T intron_variant LIRI-JP 19 36605394 36605394 single base substitution C T upstream_gene_variant LIRI-JP 19 36608775 36608775 single base substitution C T downstream_gene_variant LIRI-JP 19 36608775 36608775 single base substitution C T intron_variant LIRI-JP 19 36608775 36608775 single base substitution C T missense_variant S97F 290C>T LIRI-JP 19 36608775 36608775 single base substitution C T upstream_gene_variant LIRI-JP 19 36609154 36609154 single base substitution G T downstream_gene_variant LIRI-JP 19 36609154 36609154 single base substitution G T intron_variant LIRI-JP 19 36609154 36609154 single base substitution G T upstream_gene_variant LIRI-JP 19 36614389 36614389 single base substitution C T downstream_gene_variant LIRI-JP 19 36614389 36614389 single base substitution C T intron_variant LIRI-JP 19 36615272 36615272 single base substitution G A downstream_gene_variant LIRI-JP 19 36615272 36615272 single base substitution G A intron_variant LIRI-JP 19 36616747 36616747 single base substitution C T 3_prime_UTR_variant LIRI-JP 19 36616747 36616747 single base substitution C T downstream_gene_variant LIRI-JP 19 36616747 36616747 single base substitution C T exon_variant LIRI-JP 19 36618397 36618397 single base substitution G A downstream_gene_variant LUSC-KR 19 36602429 36602429 single base substitution C T upstream_gene_variant LUSC-KR 19 36610425 36610425 single base substitution G A downstream_gene_variant LUSC-KR 19 36610425 36610425 single base substitution G A intron_variant LUSC-KR 19 36610425 36610425 single base substitution G A upstream_gene_variant LUSC-KR 19 36621655 36621655 single base substitution G A downstream_gene_variant LUSC-US 19 36611661 36611661 single base substitution G C 3_prime_UTR_variant LUSC-US 19 36611661 36611661 single base substitution G C downstream_gene_variant LUSC-US 19 36611661 36611661 single base substitution G C exon_variant LUSC-US 19 36611661 36611661 single base substitution G C intron_variant LUSC-US 19 36611661 36611661 single base substitution G C missense_variant R103P 308G>C LUSC-US 19 36611661 36611661 single base substitution G C missense_variant R132P 395G>C LUSC-US 19 36611661 36611661 single base substitution G C missense_variant R52P 155G>C LUSC-US 19 36611661 36611661 single base substitution G C upstream_gene_variant MALY-DE 19 36600194 36600194 single base substitution G A upstream_gene_variant MALY-DE 19 36603287 36603287 single base substitution G A upstream_gene_variant MALY-DE 19 36604658 36604658 single base substitution C A upstream_gene_variant MALY-DE 19 36607153 36607153 single base substitution C T downstream_gene_variant MALY-DE 19 36607153 36607153 single base substitution C T exon_variant MALY-DE 19 36607153 36607153 single base substitution C T intron_variant MALY-DE 19 36607153 36607153 single base substitution C T upstream_gene_variant MALY-DE 19 36616029 36616029 single base substitution T G downstream_gene_variant MALY-DE 19 36616029 36616029 single base substitution T G intron_variant MALY-DE 19 36617717 36617717 single base substitution C T downstream_gene_variant MELA-AU 19 36600358 36600358 single base substitution A G upstream_gene_variant MELA-AU 19 36600494 36600494 single base substitution G A upstream_gene_variant MELA-AU 19 36600568 36600568 single base substitution G A upstream_gene_variant MELA-AU 19 36601300 36601300 single base substitution G A upstream_gene_variant MELA-AU 19 36601535 36601535 single base substitution G A upstream_gene_variant MELA-AU 19 36601910 36601910 single base substitution A T upstream_gene_variant MELA-AU 19 36602320 36602320 single base substitution G A upstream_gene_variant MELA-AU 19 36603696 36603696 single base substitution G A upstream_gene_variant MELA-AU 19 36603882 36603882 single base substitution G A upstream_gene_variant MELA-AU 19 36603888 36603888 single base substitution G A upstream_gene_variant MELA-AU 19 36604100 36604100 single base substitution C T upstream_gene_variant MELA-AU 19 36605336 36605336 single base substitution G A intron_variant MELA-AU 19 36605336 36605336 single base substitution G A upstream_gene_variant MELA-AU 19 36605501 36605501 single base substitution G A intron_variant MELA-AU 19 36605501 36605501 single base substitution G A upstream_gene_variant MELA-AU 19 36605884 36605884 single base substitution C T intron_variant MELA-AU 19 36605884 36605884 single base substitution C T upstream_gene_variant MELA-AU 19 36606296 36606296 single base substitution G A 5_prime_UTR_variant MELA-AU 19 36606296 36606296 single base substitution G A exon_variant MELA-AU 19 36606296 36606296 single base substitution G A upstream_gene_variant MELA-AU 19 36606301 36606301 single base substitution G A 5_prime_UTR_variant MELA-AU 19 36606301 36606301 single base substitution G A exon_variant MELA-AU 19 36606301 36606301 single base substitution G A upstream_gene_variant MELA-AU 19 36607960 36607961 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 36607960 36607961 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 36607960 36607961 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 36608892 36608893 multiple base substitution (>=2bp and <=200bp) TC GT downstream_gene_variant MELA-AU 19 36608892 36608893 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 19 36608892 36608893 multiple base substitution (>=2bp and <=200bp) TC GT upstream_gene_variant MELA-AU 19 36608963 36608963 single base substitution C T downstream_gene_variant MELA-AU 19 36608963 36608963 single base substitution C T intron_variant MELA-AU 19 36608963 36608963 single base substitution C T upstream_gene_variant MELA-AU 19 36609053 36609053 single base substitution C T downstream_gene_variant MELA-AU 19 36609053 36609053 single base substitution C T intron_variant MELA-AU 19 36609053 36609053 single base substitution C T upstream_gene_variant MELA-AU 19 36609149 36609149 single base substitution A T downstream_gene_variant MELA-AU 19 36609149 36609149 single base substitution A T intron_variant MELA-AU 19 36609149 36609149 single base substitution A T upstream_gene_variant MELA-AU 19 36609221 36609222 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 36609221 36609222 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 36609221 36609222 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 36609753 36609753 single base substitution T G downstream_gene_variant MELA-AU 19 36609753 36609753 single base substitution T G intron_variant MELA-AU 19 36609753 36609753 single base substitution T G upstream_gene_variant MELA-AU 19 36610090 36610090 single base substitution T A downstream_gene_variant MELA-AU 19 36610090 36610090 single base substitution T A intron_variant MELA-AU 19 36610090 36610090 single base substitution T A upstream_gene_variant MELA-AU 19 36610366 36610366 single base substitution C T downstream_gene_variant MELA-AU 19 36610366 36610366 single base substitution C T intron_variant MELA-AU 19 36610366 36610366 single base substitution C T upstream_gene_variant MELA-AU 19 36610522 36610522 single base substitution G A downstream_gene_variant MELA-AU 19 36610522 36610522 single base substitution G A intron_variant MELA-AU 19 36610522 36610522 single base substitution G A upstream_gene_variant MELA-AU 19 36610589 36610589 single base substitution T C downstream_gene_variant MELA-AU 19 36610589 36610589 single base substitution T C intron_variant MELA-AU 19 36610589 36610589 single base substitution T C upstream_gene_variant MELA-AU 19 36610665 36610670 deletion of <=200bp TGTGCC - downstream_gene_variant MELA-AU 19 36610665 36610670 deletion of <=200bp TGTGCC - intron_variant MELA-AU 19 36610665 36610670 deletion of <=200bp TGTGCC - upstream_gene_variant MELA-AU 19 36610982 36610982 single base substitution C T downstream_gene_variant MELA-AU 19 36610982 36610982 single base substitution C T intron_variant MELA-AU 19 36610982 36610982 single base substitution C T upstream_gene_variant MELA-AU 19 36611458 36611458 single base substitution C T downstream_gene_variant MELA-AU 19 36611458 36611458 single base substitution C T exon_variant MELA-AU 19 36611458 36611458 single base substitution C T intron_variant MELA-AU 19 36611458 36611458 single base substitution C T upstream_gene_variant MELA-AU 19 36611523 36611523 single base substitution C T downstream_gene_variant MELA-AU 19 36611523 36611523 single base substitution C T exon_variant MELA-AU 19 36611523 36611523 single base substitution C T intron_variant MELA-AU 19 36611523 36611523 single base substitution C T upstream_gene_variant MELA-AU 19 36611792 36611792 single base substitution C T downstream_gene_variant MELA-AU 19 36611792 36611792 single base substitution C T intron_variant MELA-AU 19 36611792 36611792 single base substitution C T upstream_gene_variant MELA-AU 19 36611852 36611852 single base substitution G A downstream_gene_variant MELA-AU 19 36611852 36611852 single base substitution G A intron_variant MELA-AU 19 36611852 36611852 single base substitution G A upstream_gene_variant MELA-AU 19 36611933 36611933 single base substitution C T downstream_gene_variant MELA-AU 19 36611933 36611933 single base substitution C T intron_variant MELA-AU 19 36611933 36611933 single base substitution C T upstream_gene_variant MELA-AU 19 36612112 36612113 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 36612112 36612113 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 36612112 36612113 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 36612423 36612423 single base substitution C T downstream_gene_variant MELA-AU 19 36612423 36612423 single base substitution C T intron_variant MELA-AU 19 36612423 36612423 single base substitution C T splice_region_variant MELA-AU 19 36612423 36612423 single base substitution C T upstream_gene_variant MELA-AU 19 36612757 36612757 single base substitution C T downstream_gene_variant MELA-AU 19 36612757 36612757 single base substitution C T exon_variant MELA-AU 19 36612757 36612757 single base substitution C T intron_variant MELA-AU 19 36612757 36612757 single base substitution C T upstream_gene_variant MELA-AU 19 36612993 36612993 single base substitution G A downstream_gene_variant MELA-AU 19 36612993 36612993 single base substitution G A exon_variant MELA-AU 19 36612993 36612993 single base substitution G A intron_variant MELA-AU 19 36613698 36613698 single base substitution A G downstream_gene_variant MELA-AU 19 36613698 36613698 single base substitution A G intron_variant MELA-AU 19 36613957 36613957 single base substitution G A downstream_gene_variant MELA-AU 19 36613957 36613957 single base substitution G A intron_variant MELA-AU 19 36614945 36614945 single base substitution G A downstream_gene_variant MELA-AU 19 36614945 36614945 single base substitution G A intron_variant MELA-AU 19 36616008 36616008 single base substitution C T downstream_gene_variant MELA-AU 19 36616008 36616008 single base substitution C T intron_variant MELA-AU 19 36616348 36616348 single base substitution G T downstream_gene_variant MELA-AU 19 36616348 36616348 single base substitution G T splice_region_variant MELA-AU 19 36616438 36616438 single base substitution C T downstream_gene_variant MELA-AU 19 36616438 36616438 single base substitution C T intron_variant MELA-AU 19 36616794 36616794 single base substitution C T 3_prime_UTR_variant MELA-AU 19 36616794 36616794 single base substitution C T downstream_gene_variant MELA-AU 19 36616794 36616794 single base substitution C T exon_variant MELA-AU 19 36617180 36617180 single base substitution C T downstream_gene_variant MELA-AU 19 36617418 36617418 single base substitution G T downstream_gene_variant MELA-AU 19 36618000 36618000 single base substitution C T downstream_gene_variant MELA-AU 19 36618440 36618440 single base substitution T G downstream_gene_variant MELA-AU 19 36618900 36618900 single base substitution T C downstream_gene_variant MELA-AU 19 36619620 36619620 single base substitution C T downstream_gene_variant MELA-AU 19 36620544 36620544 single base substitution C T downstream_gene_variant MELA-AU 19 36620636 36620636 single base substitution C T downstream_gene_variant MELA-AU 19 36620992 36620992 single base substitution C T downstream_gene_variant MELA-AU 19 36621264 36621264 single base substitution C T downstream_gene_variant MELA-AU 19 36621635 36621635 single base substitution G A downstream_gene_variant ORCA-IN 19 36608963 36608963 single base substitution C T downstream_gene_variant ORCA-IN 19 36608963 36608963 single base substitution C T intron_variant ORCA-IN 19 36608963 36608963 single base substitution C T upstream_gene_variant ORCA-IN 19 36618728 36618728 single base substitution C T downstream_gene_variant OV-AU 19 36600652 36600652 single base substitution C G upstream_gene_variant OV-AU 19 36605187 36605187 single base substitution G C upstream_gene_variant OV-AU 19 36608285 36608285 single base substitution T G downstream_gene_variant OV-AU 19 36608285 36608285 single base substitution T G intron_variant OV-AU 19 36608285 36608285 single base substitution T G upstream_gene_variant OV-AU 19 36610388 36610388 single base substitution G C downstream_gene_variant OV-AU 19 36610388 36610388 single base substitution G C intron_variant OV-AU 19 36610388 36610388 single base substitution G C upstream_gene_variant OV-AU 19 36612578 36612578 single base substitution G C downstream_gene_variant OV-AU 19 36612578 36612578 single base substitution G C exon_variant OV-AU 19 36612578 36612578 single base substitution G C intron_variant OV-AU 19 36612578 36612578 single base substitution G C missense_variant A118P 352G>C OV-AU 19 36612578 36612578 single base substitution G C missense_variant A169P 505G>C OV-AU 19 36612578 36612578 single base substitution G C splice_region_variant OV-AU 19 36612578 36612578 single base substitution G C upstream_gene_variant OV-AU 19 36619769 36619769 single base substitution G C downstream_gene_variant PACA-AU 19 36602395 36602395 single base substitution A T upstream_gene_variant PACA-AU 19 36604823 36604823 single base substitution T C upstream_gene_variant PACA-AU 19 36606042 36606042 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 19 36606042 36606042 single base substitution C G exon_variant PACA-AU 19 36606042 36606042 single base substitution C G upstream_gene_variant PACA-AU 19 36606118 36606118 single base substitution G A 5_prime_UTR_variant PACA-AU 19 36606118 36606118 single base substitution G A exon_variant PACA-AU 19 36606118 36606118 single base substitution G A upstream_gene_variant PACA-AU 19 36611341 36611341 single base substitution G A downstream_gene_variant PACA-AU 19 36611341 36611341 single base substitution G A intron_variant PACA-AU 19 36611341 36611341 single base substitution G A upstream_gene_variant PACA-AU 19 36617505 36617505 single base substitution C T downstream_gene_variant PACA-AU 19 36617978 36617978 single base substitution A C downstream_gene_variant PACA-CA 19 36600193 36600193 single base substitution C T upstream_gene_variant PACA-CA 19 36600507 36600507 single base substitution G A upstream_gene_variant PACA-CA 19 36602614 36602614 single base substitution T C upstream_gene_variant PACA-CA 19 36605954 36605954 single base substitution G T 5_prime_UTR_variant PACA-CA 19 36605954 36605954 single base substitution G T splice_acceptor_variant PACA-CA 19 36605954 36605954 single base substitution G T upstream_gene_variant PACA-CA 19 36606227 36606227 single base substitution C T 5_prime_UTR_variant PACA-CA 19 36606227 36606227 single base substitution C T exon_variant PACA-CA 19 36606227 36606227 single base substitution C T upstream_gene_variant PACA-CA 19 36610373 36610373 single base substitution G A downstream_gene_variant PACA-CA 19 36610373 36610373 single base substitution G A intron_variant PACA-CA 19 36610373 36610373 single base substitution G A upstream_gene_variant PACA-CA 19 36615550 36615550 single base substitution G A downstream_gene_variant PACA-CA 19 36615550 36615550 single base substitution G A intron_variant PACA-CA 19 36620106 36620106 single base substitution C T downstream_gene_variant PAEN-AU 19 36609854 36609854 single base substitution A G downstream_gene_variant PAEN-AU 19 36609854 36609854 single base substitution A G intron_variant PAEN-AU 19 36609854 36609854 single base substitution A G upstream_gene_variant PAEN-AU 19 36619024 36619024 single base substitution A C downstream_gene_variant PAEN-IT 19 36616170 36616170 single base substitution C A downstream_gene_variant PAEN-IT 19 36616170 36616170 single base substitution C A intron_variant PAEN-IT 19 36618820 36618820 single base substitution C T downstream_gene_variant PBCA-DE 19 36612485 36612485 single base substitution C T downstream_gene_variant PBCA-DE 19 36612485 36612485 single base substitution C T exon_variant PBCA-DE 19 36612485 36612485 single base substitution C T intron_variant PBCA-DE 19 36612485 36612485 single base substitution C T missense_variant R138W 412C>T PBCA-DE 19 36612485 36612485 single base substitution C T missense_variant R87W 259C>T PBCA-DE 19 36612485 36612485 single base substitution C T upstream_gene_variant PBCA-DE 19 36617725 36617725 single base substitution C T downstream_gene_variant PBCA-DE 19 36619263 36619263 single base substitution A G downstream_gene_variant PRAD-UK 19 36608552 36608552 deletion of <=200bp C - downstream_gene_variant PRAD-UK 19 36608552 36608552 deletion of <=200bp C - intron_variant PRAD-UK 19 36608552 36608552 deletion of <=200bp C - upstream_gene_variant READ-US 19 36604944 36604944 single base substitution G A upstream_gene_variant RECA-EU 19 36601267 36601267 single base substitution G A upstream_gene_variant RECA-EU 19 36616058 36616058 single base substitution G C downstream_gene_variant RECA-EU 19 36616058 36616058 single base substitution G C intron_variant RECA-EU 19 36616253 36616253 single base substitution T A downstream_gene_variant RECA-EU 19 36616253 36616253 single base substitution T A intron_variant SKCA-BR 19 36600657 36600657 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 19 36602869 36602869 single base substitution G A upstream_gene_variant SKCA-BR 19 36606638 36606638 single base substitution G A downstream_gene_variant SKCA-BR 19 36606638 36606638 single base substitution G A intron_variant SKCA-BR 19 36606638 36606638 single base substitution G A upstream_gene_variant SKCA-BR 19 36606642 36606642 single base substitution A G downstream_gene_variant SKCA-BR 19 36606642 36606642 single base substitution A G intron_variant SKCA-BR 19 36606642 36606642 single base substitution A G upstream_gene_variant SKCA-BR 19 36606650 36606650 single base substitution A G downstream_gene_variant SKCA-BR 19 36606650 36606650 single base substitution A G intron_variant SKCA-BR 19 36606650 36606650 single base substitution A G upstream_gene_variant SKCA-BR 19 36613975 36613975 single base substitution C G downstream_gene_variant SKCA-BR 19 36613975 36613975 single base substitution C G intron_variant SKCA-BR 19 36614714 36614714 single base substitution T G downstream_gene_variant SKCA-BR 19 36614714 36614714 single base substitution T G intron_variant SKCA-BR 19 36615438 36615438 single base substitution T G downstream_gene_variant SKCA-BR 19 36615438 36615438 single base substitution T G intron_variant SKCA-BR 19 36616149 36616149 single base substitution G A downstream_gene_variant SKCA-BR 19 36616149 36616149 single base substitution G A intron_variant SKCA-BR 19 36619088 36619088 single base substitution A G downstream_gene_variant SKCA-BR 19 36619798 36619798 single base substitution G A downstream_gene_variant SKCA-BR 19 36619799 36619799 single base substitution G A downstream_gene_variant SKCM-US 19 36604965 36604965 single base substitution G A upstream_gene_variant SKCM-US 19 36605705 36605705 single base substitution C G intron_variant SKCM-US 19 36605705 36605705 single base substitution C G upstream_gene_variant SKCM-US 19 36612445 36612445 single base substitution C T downstream_gene_variant SKCM-US 19 36612445 36612445 single base substitution C T exon_variant SKCM-US 19 36612445 36612445 single base substitution C T intron_variant SKCM-US 19 36612445 36612445 single base substitution C T synonymous_variant F124F 372C>T SKCM-US 19 36612445 36612445 single base substitution C T synonymous_variant F73F 219C>T SKCM-US 19 36612445 36612445 single base substitution C T upstream_gene_variant SKCM-US 19 36616592 36616592 single base substitution G A 3_prime_UTR_variant SKCM-US 19 36616592 36616592 single base substitution G A downstream_gene_variant SKCM-US 19 36616592 36616592 single base substitution G A exon_variant SKCM-US 19 36616592 36616592 single base substitution G A missense_variant E164K 490G>A SKCM-US 19 36616592 36616592 single base substitution G A missense_variant E215K 643G>A SKCM-US 19 36616633 36616633 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36616633 36616633 single base substitution C T downstream_gene_variant SKCM-US 19 36616633 36616633 single base substitution C T exon_variant SKCM-US 19 36616633 36616633 single base substitution C T synonymous_variant V177V 531C>T SKCM-US 19 36616633 36616633 single base substitution C T synonymous_variant V228V 684C>T SKCM-US 19 36616653 36616653 single base substitution C T 3_prime_UTR_variant SKCM-US 19 36616653 36616653 single base substitution C T downstream_gene_variant SKCM-US 19 36616653 36616653 single base substitution C T exon_variant SKCM-US 19 36616653 36616653 single base substitution C T missense_variant P184L 551C>T SKCM-US 19 36616653 36616653 single base substitution C T missense_variant P235L 704C>T STAD-US 19 36604659 36604659 single base substitution A G upstream_gene_variant STAD-US 19 36605757 36605757 single base substitution A G intron_variant STAD-US 19 36605757 36605757 single base substitution A G upstream_gene_variant STAD-US 19 36611634 36611634 single base substitution G A 3_prime_UTR_variant STAD-US 19 36611634 36611634 single base substitution G A downstream_gene_variant STAD-US 19 36611634 36611634 single base substitution G A exon_variant STAD-US 19 36611634 36611634 single base substitution G A intron_variant STAD-US 19 36611634 36611634 single base substitution G A missense_variant R123H 368G>A STAD-US 19 36611634 36611634 single base substitution G A missense_variant R43H 128G>A STAD-US 19 36611634 36611634 single base substitution G A missense_variant R94H 281G>A STAD-US 19 36611634 36611634 single base substitution G A upstream_gene_variant STAD-US 19 36611658 36611658 single base substitution C T 3_prime_UTR_variant STAD-US 19 36611658 36611658 single base substitution C T downstream_gene_variant STAD-US 19 36611658 36611658 single base substitution C T exon_variant STAD-US 19 36611658 36611658 single base substitution C T intron_variant STAD-US 19 36611658 36611658 single base substitution C T missense_variant S102F 305C>T STAD-US 19 36611658 36611658 single base substitution C T missense_variant S131F 392C>T STAD-US 19 36611658 36611658 single base substitution C T missense_variant S51F 152C>T STAD-US 19 36611658 36611658 single base substitution C T upstream_gene_variant STAD-US 19 36612466 36612466 single base substitution C T downstream_gene_variant STAD-US 19 36612466 36612466 single base substitution C T exon_variant STAD-US 19 36612466 36612466 single base substitution C T intron_variant STAD-US 19 36612466 36612466 single base substitution C T synonymous_variant G131G 393C>T STAD-US 19 36612466 36612466 single base substitution C T synonymous_variant G80G 240C>T STAD-US 19 36612466 36612466 single base substitution C T upstream_gene_variant STAD-US 19 36616392 36616392 single base substitution G A downstream_gene_variant STAD-US 19 36616392 36616392 single base substitution G A exon_variant STAD-US 19 36616392 36616392 single base substitution G A missense_variant A180T 538G>A STAD-US 19 36616392 36616392 single base substitution G A missense_variant A49T 145G>A STAD-US 19 36616392 36616392 single base substitution G A missense_variant R145H 434G>A STAD-US 19 36616392 36616392 single base substitution G A missense_variant R196H 587G>A UCEC-US 19 36605708 36605708 single base substitution G A intron_variant UCEC-US 19 36605708 36605708 single base substitution G A upstream_gene_variant UCEC-US 19 36607038 36607038 single base substitution G T downstream_gene_variant UCEC-US 19 36607038 36607038 single base substitution G T exon_variant UCEC-US 19 36607038 36607038 single base substitution G T missense_variant E19D 57G>T UCEC-US 19 36607038 36607038 single base substitution G T missense_variant E53D 159G>T UCEC-US 19 36607038 36607038 single base substitution G T missense_variant E70D 210G>T UCEC-US 19 36607038 36607038 single base substitution G T upstream_gene_variant UCEC-US 19 36607067 36607067 single base substitution A G downstream_gene_variant UCEC-US 19 36607067 36607067 single base substitution A G exon_variant UCEC-US 19 36607067 36607067 single base substitution A G missense_variant D29G 86A>G UCEC-US 19 36607067 36607067 single base substitution A G missense_variant D63G 188A>G UCEC-US 19 36607067 36607067 single base substitution A G missense_variant D80G 239A>G UCEC-US 19 36607067 36607067 single base substitution A G upstream_gene_variant UCEC-US 19 36611654 36611654 single base substitution G A 3_prime_UTR_variant UCEC-US 19 36611654 36611654 single base substitution G A downstream_gene_variant UCEC-US 19 36611654 36611654 single base substitution G A exon_variant UCEC-US 19 36611654 36611654 single base substitution G A intron_variant UCEC-US 19 36611654 36611654 single base substitution G A missense_variant V101M 301G>A UCEC-US 19 36611654 36611654 single base substitution G A missense_variant V130M 388G>A UCEC-US 19 36611654 36611654 single base substitution G A missense_variant V50M 148G>A UCEC-US 19 36611654 36611654 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 8067513 COSM4138226 c.679G>A p.A227T Substitution - Missense 19:36125726-36125726 + TCGA-GF-A2C7-01 COSM3532894 c.704C>T p.P235L Substitution - Missense 19:36125751-36125751 + TCGA-AP-A051-01 COSM995384 c.239A>G p.D80G Substitution - Missense 19:36116165-36116165 + LUAD-S00488 COSM395081 c.503G>T p.R168L Substitution - Missense 19:36121674-36121674 + UM-SCC-2 COSM4590965 c.653C>A p.A218D Substitution - Missense 19:36125700-36125700 + TCGA-EE-A3JI-06 COSM3532893 c.643G>A p.E215K Substitution - Missense 19:36125690-36125690 + T3080 COSM4732426 c.690G>A p.T230T Substitution - coding silent 19:36125737-36125737 + TCGA-AM-5820-01 COSM3692690 c.193A>G p.S65G Substitution - Missense 19:36116119-36116119 + TCGA-AG-A016-01 COSM290120 c.705G>A p.P235P Substitution - coding silent 19:36125752-36125752 + TCGA-FP-7916-01 COSM3199538 c.587G>A p.R196H Substitution - Missense 19:36125490-36125490 + TCGA-FW-A3R5-06 COSM3892381 c.684C>T p.V228V Substitution - coding silent 19:36125731-36125731 + 2492726 COSM4656290 c.480C>T p.P160P Substitution - coding silent 19:36121651-36121651 + 93VU147T COSM4590965 c.653C>A p.A218D Substitution - Missense 19:36125700-36125700 + TCGA-A7-A26J-01 COSM3822800 c.310G>T p.V104L Substitution - Missense 19:36120761-36120761 + B109-Tumor COSM1750839 c.265G>A p.D89N Substitution - Missense 19:36120716-36120716 + TCGA-AD-6895-01 COSM1393046 c.84C>T p.Y28Y Substitution - coding silent 19:36115644-36115644 + TCGA-BR-8683-01 COSM4077340 c.305C>T p.S102F Substitution - Missense 19:36120756-36120756 + 587234 COSM1228632 c.511G>T p.G171* Substitution - Nonsense 19:36121682-36121682 + 260T COSM1726967 c.343G>T p.D115Y Substitution - Missense 19:36120794-36120794 + TCGA-CH-5739-01 COSM3672872 c.718G>T p.G240W Substitution - Missense 19:36125765-36125765 + TCGA-CG-5733-01 COSM4077339 c.281G>A p.R94H Substitution - Missense 19:36120732-36120732 + 2492724 COSM4656290 c.480C>T p.P160P Substitution - coding silent 19:36121651-36121651 + RKO COSM4648260 c.708G>T p.E236D Substitution - Missense 19:36125755-36125755 + TCGA-CJ-4876-01 COSM3362819 c.320A>T p.Y107F Substitution - Missense 19:36120771-36120771 + TCGA-A4-7734-01 COSM3989962 c.66C>G p.F22L Substitution - Missense 19:36115626-36115626 + 2492725 COSM4656290 c.480C>T p.P160P Substitution - coding silent 19:36121651-36121651 + PD4841a COSM5787666 c.732A>G p.I244M Substitution - Missense 19:36125779-36125779 + 3765_T COSM3959968 c.179A>T p.D60V Substitution - Missense 19:36116105-36116105 + CSCC-49-T COSM4501320 c.585C>T p.V195V Substitution - coding silent 19:36125488-36125488 + PTC-7C COSM4077339 c.281G>A p.R94H Substitution - Missense 19:36120732-36120732 + B109 COSM1750839 c.265G>A p.D89N Substitution - Missense 19:36120716-36120716 + AOCS-104-1-6 COSM4140557 c.505G>C p.A169P Substitution - Missense 19:36121676-36121676 + TCGA-A6-5665-01 COSM1393047 c.635G>A p.R212H Substitution - Missense 19:36125682-36125682 + CAL27 COSM4590965 c.653C>A p.A218D Substitution - Missense 19:36125700-36125700 + TCGA-A4-A5Y1-01 COSM3989963 c.77A>T p.K26M Substitution - Missense 19:36115637-36115637 + TCGA-DA-A3F3-06 COSM3532892 c.372C>T p.F124F Substitution - coding silent 19:36121543-36121543 + TCGA-AX-A05Z-01 COSM995383 c.210G>T p.E70D Substitution - Missense 19:36116136-36116136 + HN_62686 COSM122010 c.300C>T p.D100D Substitution - coding silent 19:36120751-36120751 + TCGA-AM-5820-01 COSM3692691 c.627T>A p.N209K Substitution - Missense 19:36125674-36125674 + SW48 COSM4656290 c.480C>T p.P160P Substitution - coding silent 19:36121651-36121651 + TCGA-AP-A051-01 COSM995386 c.301G>A p.V101M Substitution - Missense 19:36120752-36120752 + TCGA-43-3920-01 COSM711837 c.308G>C p.R103P Substitution - Missense 19:36120759-36120759 + TCGA-E2-A2P6-01 COSM3822799 c.261C>T p.V87V Substitution - coding silent 19:36120712-36120712 + NOKSI COSM4590965 c.653C>A p.A218D Substitution - Missense 19:36125700-36125700 + LAU50_2 COSM233543 c.115-8C>G p.? Unknown 19:36116033-36116033 + TCGA-HU-A4G8-01 COSM4077341 c.393C>T p.G131G Substitution - coding silent 19:36121564-36121564 + ESCC_160 COSM5647321 c.642C>T p.F214F Substitution - coding silent 19:36125689-36125689 + CSCC-27-T COSM4488859 c.339C>T p.A113A Substitution - coding silent 19:36120790-36120790 + TCGA-HM-A3JK-01 COSM4854910 c.547+4C>T p.? Unknown 19:36121722-36121722 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.31037;Hs.31053 19q13.11-q13.12 601303 1518635|dbSNP|BC005969|A/C|coding|Ser128Arg|435|Validated; 1518635|dbSNP|BC052812|A/C|coding|Ser128Arg|458|Validated; 2422426|dbSNP|BC005969|C/T|coding|Pro235Leu|755|Validated; 2422426|dbSNP|BC052812|C/T|coding|Pro235Leu|778|Validated; 2423879|dbSNP|BC005969|A/T|coding|Val179Asp|587|Validated; 2423879|dbSNP|BC052812|A/T|coding|Val179Asp|610|Validated; 2423880|dbSNP|BC005969|G/T|non-coding||799|Validated; 2423880|dbSNP|BC052812|G/T|non-coding||822|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.Y107F c.320A>T 19 36611673 RCCC C A Missense p.P235Q c.704C>A 19 36616653 STAD C T Missense p.P235L c.704C>T 19 36616653 CM C T Synonymous p.C216C c.648C>T 19 36616597 COREAD C T Synonymous p.D100D c.300C>T 19 36611653 HNSC C T Synonymous p.F124F c.372C>T 19 36612445 CM G A IntronicSNV . c.115-129G>A 19 36606814 ESCA G A Missense p.E215K c.643G>A 19 36616592 CM G A Missense p.R94H c.281G>A 19 36611634 STAD G A Synonymous p.P235P c.705G>A 19 36616654 COREAD G C Missense p.R103P c.308G>C 19 36611661 LUSC