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 5 180665127 180665127 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr5:180665127G>C c.749C>G c.(748-750)gCt>gGt p.A250G BLCA 5 180666172 180666172 + Nonsense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr5:180666172C>T c.531G>A c.(529-531)tgG>tgA p.W177* BLCA 5 180668545 180668545 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr5:180668545C>G c.376G>C c.(376-378)Gat>Cat p.D126H BLCA 5 180668594 180668594 + Silent SNP C C G TCGA-FD-A3B8-01A-31D-A20D-08 TCGA-FD-A3B8-10A-01D-A20D-08 g.chr5:180668594C>G c.327G>C c.(325-327)ctG>ctC p.L109L BRCA 5 180665141 180665141 + Silent SNP G G C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 g.chr5:180665141G>C c.735C>G c.(733-735)cgC>cgG p.R245R BRCA 5 180666577 180666577 + Silent SNP C C T TCGA-E9-A1R4-01A-21D-A14G-09 TCGA-E9-A1R4-10A-01D-A14G-09 g.chr5:180666577C>T c.435G>A c.(433-435)gaG>gaA p.E145E BRCA 5 180668564 180668564 + Missense_Mutation SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:180668564C>A c.357G>T c.(355-357)caG>caT p.Q119H BRCA 5 180669195 180669195 + Missense_Mutation SNP A A C TCGA-A2-A0SW-01A-11D-A099-09 TCGA-A2-A0SW-10A-01W-A097-09 g.chr5:180669195A>C c.260T>G c.(259-261)cTg>cGg p.L87R COAD 5 180666517 180666517 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:180666517G>A c.495C>T c.(493-495)atC>atT p.I165I COAD 5 180668573 180668573 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:180668573G>A c.348C>T c.(346-348)gaC>gaT p.D116D COAD 5 180668577 180668579 + In_Frame_Del DEL GAG GAG - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr5:180668577_180668579delGAG c.342_344delCTC c.(340-345)tcctct>tct p.114_115SS>S COAD 5 180668638 180668638 + Splice_Site SNP C C T TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr5:180668638C>T c.283G>A c.(283-285)Ggc>Agc p.G95S COADREAD 5 180666517 180666517 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:180666517G>A c.495C>T c.(493-495)atC>atT p.I165I COADREAD 5 180668573 180668573 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:180668573G>A c.348C>T c.(346-348)gaC>gaT p.D116D COADREAD 5 180668577 180668579 + In_Frame_Del DEL GAG GAG - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr5:180668577_180668579delGAG c.342_344delCTC c.(340-345)tcctct>tct p.114_115SS>S COADREAD 5 180668638 180668638 + Splice_Site SNP C C T TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr5:180668638C>T c.283G>A c.(283-285)Ggc>Agc p.G95S DLBC 5 180665123 180665123 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:180665123G>A c.753C>T c.(751-753)gcC>gcT p.A251A ESCA 5 180664622 180664622 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr5:180664622G>T c.875C>A c.(874-876)tCt>tAt p.S292Y ESCA 5 180669293 180669293 + Missense_Mutation SNP A A C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr5:180669293A>C c.162T>G c.(160-162)atT>atG p.I54M GBMLGG 5 180665164 180665164 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:180665164C>T c.712G>A c.(712-714)Gcc>Acc p.A238T GBMLGG 5 180669308 180669308 + Missense_Mutation SNP C C G TCGA-FG-A87Q-01A-11D-A36O-08 TCGA-FG-A87Q-10A-01D-A367-08 g.chr5:180669308C>G c.147G>C c.(145-147)gaG>gaC p.E49D HNSC 5 180666085 180666085 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr5:180666085G>A c.618C>T c.(616-618)ctC>ctT p.L206L HNSC 5 180666087 180666087 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr5:180666087G>A c.616C>T c.(616-618)Ctc>Ttc p.L206F KIPAN 5 180670768 180670768 + Silent SNP G G C TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr5:180670768G>C c.33C>G c.(31-33)ctC>ctG p.L11L KIRP 5 180670768 180670768 + Silent SNP G G C TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr5:180670768G>C c.33C>G c.(31-33)ctC>ctG p.L11L LGG 5 180665164 180665164 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:180665164C>T c.712G>A c.(712-714)Gcc>Acc p.A238T LGG 5 180669308 180669308 + Missense_Mutation SNP C C G TCGA-FG-A87Q-01A-11D-A36O-08 TCGA-FG-A87Q-10A-01D-A367-08 g.chr5:180669308C>G c.147G>C c.(145-147)gaG>gaC p.E49D LIHC 5 180666567 180666567 + Missense_Mutation SNP C C G TCGA-BC-A10Z-01A-11D-A12Z-10 TCGA-BC-A10Z-11A-11D-A12Z-10 g.chr5:180666567C>G c.445G>C c.(445-447)Gag>Cag p.E149Q LIHC 5 180668513 180668513 + Silent SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr5:180668513A>G c.408T>C c.(406-408)ggT>ggC p.G136G LUAD 5 180665099 180665099 + Splice_Site SNP C C T TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr5:180665099C>T c.777G>A c.(775-777)tgG>tgA p.W259* LUAD 5 180668496 180668496 + Missense_Mutation SNP A A G TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr5:180668496A>G c.425T>C c.(424-426)gTc>gCc p.V142A LUAD 5 180668575 180668575 + Missense_Mutation SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr5:180668575C>T c.346G>A c.(346-348)Gac>Aac p.D116N LUAD 5 180670768 180670768 + Silent SNP G G T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr5:180670768G>T c.33C>A c.(31-33)ctC>ctA p.L11L SKCM 5 180665143 180665143 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr5:180665143G>A c.733C>T c.(733-735)Cgc>Tgc p.R245C SKCM 5 180665212 180665212 + Missense_Mutation SNP T T C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr5:180665212T>C c.664A>G c.(664-666)Aac>Gac p.N222D SKCM 5 180666103 180666103 + Silent SNP G G A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr5:180666103G>A c.600C>T c.(598-600)gtC>gtT p.V200V SKCM 5 180668525 180668525 + Nonsense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr5:180668525C>T c.396G>A c.(394-396)tgG>tgA p.W132* SKCM 5 180668594 180668594 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr5:180668594C>T c.327G>A c.(325-327)ctG>ctA p.L109L SKCM 5 180668622 180668622 + Missense_Mutation SNP C C A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr5:180668622C>A c.299G>T c.(298-300)cGa>cTa p.R100L

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 5 180660711 180660711 single base substitution G A downstream_gene_variant BLCA-US 5 180660709 180660709 single base substitution C T downstream_gene_variant BLCA-US 5 180661586 180661586 single base substitution G A downstream_gene_variant BLCA-US 5 180668594 180668594 single base substitution C G 3_prime_UTR_variant BLCA-US 5 180668594 180668594 single base substitution C G downstream_gene_variant BLCA-US 5 180668594 180668594 single base substitution C G exon_variant BLCA-US 5 180668594 180668594 single base substitution C G intron_variant BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L109L 327G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L149L 447G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L157L 471G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L15L 45G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L26L 78G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L39L 117G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L65L 195G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L68L 204G>C BLCA-US 5 180668594 180668594 single base substitution C G synonymous_variant L95L 285G>C BLCA-US 5 180668594 180668594 single base substitution C G upstream_gene_variant BRCA-EU 5 180659878 180659878 single base substitution C T downstream_gene_variant BRCA-EU 5 180660154 180660154 single base substitution C T downstream_gene_variant BRCA-EU 5 180660342 180660342 single base substitution C T downstream_gene_variant BRCA-EU 5 180662602 180662602 single base substitution T G downstream_gene_variant BRCA-EU 5 180663326 180663326 single base substitution G C downstream_gene_variant BRCA-EU 5 180664744 180664744 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 180664744 180664744 insertion of <=200bp - T exon_variant BRCA-EU 5 180664744 180664744 insertion of <=200bp - T intron_variant BRCA-EU 5 180670288 180670288 single base substitution C T 5_prime_UTR_variant BRCA-EU 5 180670288 180670288 single base substitution C T exon_variant BRCA-EU 5 180670288 180670288 single base substitution C T intron_variant BRCA-EU 5 180670288 180670288 single base substitution C T missense_variant G76E 227G>A BRCA-EU 5 180670288 180670288 single base substitution C T upstream_gene_variant BRCA-EU 5 180670531 180670531 single base substitution C T intron_variant BRCA-EU 5 180670531 180670531 single base substitution C T upstream_gene_variant BRCA-EU 5 180670918 180670918 single base substitution C T 5_prime_UTR_variant BRCA-EU 5 180670918 180670918 single base substitution C T exon_variant BRCA-EU 5 180670918 180670918 single base substitution C T intron_variant BRCA-EU 5 180670918 180670918 single base substitution C T upstream_gene_variant BRCA-EU 5 180677047 180677047 single base substitution A T upstream_gene_variant BRCA-EU 5 180677493 180677493 single base substitution G A upstream_gene_variant BRCA-EU 5 180679618 180679618 single base substitution G A upstream_gene_variant BRCA-FR 5 180661232 180661232 single base substitution C G downstream_gene_variant BRCA-FR 5 180663326 180663326 single base substitution G C downstream_gene_variant BRCA-FR 5 180665473 180665473 single base substitution C G 5_prime_UTR_variant BRCA-FR 5 180665473 180665473 single base substitution C G downstream_gene_variant BRCA-FR 5 180665473 180665473 single base substitution C G exon_variant BRCA-FR 5 180665473 180665473 single base substitution C G intron_variant BRCA-FR 5 180665473 180665473 single base substitution C G upstream_gene_variant BRCA-KR 5 180664217 180664217 single base substitution C G 3_prime_UTR_variant BRCA-KR 5 180664217 180664217 single base substitution C G downstream_gene_variant BRCA-KR 5 180664217 180664217 single base substitution C G intron_variant BRCA-KR 5 180664217 180664217 single base substitution C G missense_variant D237H 709G>C BRCA-KR 5 180664217 180664217 single base substitution C G splice_region_variant BRCA-UK 5 180663763 180663763 single base substitution C T downstream_gene_variant BRCA-US 5 180661694 180661694 single base substitution C T downstream_gene_variant BRCA-US 5 180661772 180661772 single base substitution T C downstream_gene_variant BRCA-US 5 180664279 180664279 single base substitution C G 3_prime_UTR_variant BRCA-US 5 180664279 180664279 single base substitution C G downstream_gene_variant BRCA-US 5 180664279 180664279 single base substitution C G intron_variant BRCA-US 5 180664279 180664279 single base substitution C G missense_variant R216T 647G>C BRCA-US 5 180664279 180664279 single base substitution C G missense_variant R240T 719G>C BRCA-US 5 180665141 180665141 single base substitution G C 3_prime_UTR_variant BRCA-US 5 180665141 180665141 single base substitution G C downstream_gene_variant BRCA-US 5 180665141 180665141 single base substitution G C exon_variant BRCA-US 5 180665141 180665141 single base substitution G C intron_variant BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R102R 306C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R125R 375C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R151R 453C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R175R 525C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R18R 54C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R197R 591C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R201R 603C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R231R 693C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R245R 735C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R263R 789C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R293R 879C>G BRCA-US 5 180665141 180665141 single base substitution G C synonymous_variant R29R 87C>G BRCA-US 5 180665141 180665141 single base substitution G C upstream_gene_variant BRCA-US 5 180666577 180666577 single base substitution C T 3_prime_UTR_variant BRCA-US 5 180666577 180666577 single base substitution C T downstream_gene_variant BRCA-US 5 180666577 180666577 single base substitution C T exon_variant BRCA-US 5 180666577 180666577 single base substitution C T intron_variant BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E101E 303G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E104E 312G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E121E 363G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E131E 393G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E145E 435G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E163E 489G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E185E 555G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E193E 579G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E2E 6G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E51E 153G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E62E 186G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E75E 225G>A BRCA-US 5 180666577 180666577 single base substitution C T synonymous_variant E97E 291G>A BRCA-US 5 180666577 180666577 single base substitution C T upstream_gene_variant BRCA-US 5 180668564 180668564 single base substitution C A 3_prime_UTR_variant BRCA-US 5 180668564 180668564 single base substitution C A downstream_gene_variant BRCA-US 5 180668564 180668564 single base substitution C A exon_variant BRCA-US 5 180668564 180668564 single base substitution C A intron_variant BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q105H 315G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q119H 357G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q159H 477G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q167H 501G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q25H 75G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q36H 108G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q49H 147G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q75H 225G>T BRCA-US 5 180668564 180668564 single base substitution C A missense_variant Q78H 234G>T BRCA-US 5 180668564 180668564 single base substitution C A splice_acceptor_variant BRCA-US 5 180668564 180668564 single base substitution C A upstream_gene_variant BRCA-US 5 180668879 180668879 single base substitution T C downstream_gene_variant BRCA-US 5 180668879 180668879 single base substitution T C exon_variant BRCA-US 5 180668879 180668879 single base substitution T C intron_variant BRCA-US 5 180668879 180668879 single base substitution T C upstream_gene_variant BRCA-US 5 180668880 180668880 single base substitution C A downstream_gene_variant BRCA-US 5 180668880 180668880 single base substitution C A exon_variant BRCA-US 5 180668880 180668880 single base substitution C A intron_variant BRCA-US 5 180668880 180668880 single base substitution C A upstream_gene_variant BRCA-US 5 180668881 180668881 single base substitution A T downstream_gene_variant BRCA-US 5 180668881 180668881 single base substitution A T exon_variant BRCA-US 5 180668881 180668881 single base substitution A T intron_variant BRCA-US 5 180668881 180668881 single base substitution A T upstream_gene_variant BRCA-US 5 180669195 180669195 single base substitution A C 3_prime_UTR_variant BRCA-US 5 180669195 180669195 single base substitution A C downstream_gene_variant BRCA-US 5 180669195 180669195 single base substitution A C exon_variant BRCA-US 5 180669195 180669195 single base substitution A C intron_variant BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L127R 380T>G BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L135R 404T>G BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L17R 50T>G BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L43R 128T>G BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L46R 137T>G BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L4R 11T>G BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L73R 218T>G BRCA-US 5 180669195 180669195 single base substitution A C missense_variant L87R 260T>G BRCA-US 5 180669195 180669195 single base substitution A C upstream_gene_variant BTCA-JP 5 180660619 180660619 single base substitution C T downstream_gene_variant BTCA-JP 5 180663995 180663995 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 180663995 180663995 single base substitution C T downstream_gene_variant BTCA-JP 5 180663995 180663995 single base substitution C T exon_variant BTCA-JP 5 180663995 180663995 single base substitution C T stop_retained_variant *274* 821G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V132V 396G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V192V 576G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V228V 684G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V264V 792G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V268V 804G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V312V 936G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V81V 243G>A BTCA-JP 5 180663995 180663995 single base substitution C T synonymous_variant V96V 288G>A BTCA-JP 5 180665944 180665944 single base substitution A T downstream_gene_variant BTCA-JP 5 180665944 180665944 single base substitution A T exon_variant BTCA-JP 5 180665944 180665944 single base substitution A T intron_variant BTCA-JP 5 180665944 180665944 single base substitution A T upstream_gene_variant BTCA-JP 5 180666276 180666276 single base substitution A G downstream_gene_variant BTCA-JP 5 180666276 180666276 single base substitution A G exon_variant BTCA-JP 5 180666276 180666276 single base substitution A G intron_variant BTCA-JP 5 180666276 180666276 single base substitution A G upstream_gene_variant BTCA-JP 5 180666375 180666376 deletion of <=200bp AG - downstream_gene_variant BTCA-JP 5 180666375 180666376 deletion of <=200bp AG - exon_variant BTCA-JP 5 180666375 180666376 deletion of <=200bp AG - intron_variant BTCA-JP 5 180666375 180666376 deletion of <=200bp AG - upstream_gene_variant BTCA-JP 5 180668717 180668718 deletion of <=200bp TC - downstream_gene_variant BTCA-JP 5 180668717 180668718 deletion of <=200bp TC - exon_variant BTCA-JP 5 180668717 180668718 deletion of <=200bp TC - intron_variant BTCA-JP 5 180668717 180668718 deletion of <=200bp TC - upstream_gene_variant CESC-US 5 180660643 180660643 single base substitution G A downstream_gene_variant CESC-US 5 180661467 180661467 single base substitution C T downstream_gene_variant CLLE-ES 5 180659043 180659043 single base substitution C A downstream_gene_variant COAD-US 5 180659667 180659667 single base substitution G T downstream_gene_variant COAD-US 5 180661256 180661256 single base substitution G C downstream_gene_variant COAD-US 5 180661615 180661615 single base substitution G A downstream_gene_variant COAD-US 5 180661666 180661666 single base substitution C A downstream_gene_variant COAD-US 5 180666517 180666517 single base substitution G A 3_prime_UTR_variant COAD-US 5 180666517 180666517 single base substitution G A downstream_gene_variant COAD-US 5 180666517 180666517 single base substitution G A exon_variant COAD-US 5 180666517 180666517 single base substitution G A intron_variant COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I117I 351C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I121I 363C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I124I 372C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I141I 423C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I151I 453C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I165I 495C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I183I 549C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I213I 639C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I22I 66C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I71I 213C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I82I 246C>T COAD-US 5 180666517 180666517 single base substitution G A synonymous_variant I95I 285C>T COAD-US 5 180666517 180666517 single base substitution G A upstream_gene_variant COAD-US 5 180668573 180668573 single base substitution G A 3_prime_UTR_variant COAD-US 5 180668573 180668573 single base substitution G A downstream_gene_variant COAD-US 5 180668573 180668573 single base substitution G A exon_variant COAD-US 5 180668573 180668573 single base substitution G A intron_variant COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D102D 306C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D116D 348C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D156D 468C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D164D 492C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D22D 66C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D33D 99C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D46D 138C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D72D 216C>T COAD-US 5 180668573 180668573 single base substitution G A synonymous_variant D75D 225C>T COAD-US 5 180668573 180668573 single base substitution G A upstream_gene_variant COAD-US 5 180668577 180668579 deletion of <=200bp GAG - 3_prime_UTR_variant COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS100S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS114S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS154S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS162S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS20S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS31S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS44S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS70S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - disruptive_inframe_deletion SS73S COAD-US 5 180668577 180668579 deletion of <=200bp GAG - downstream_gene_variant COAD-US 5 180668577 180668579 deletion of <=200bp GAG - exon_variant COAD-US 5 180668577 180668579 deletion of <=200bp GAG - intron_variant COAD-US 5 180668577 180668579 deletion of <=200bp GAG - upstream_gene_variant COAD-US 5 180668638 180668638 single base substitution C T downstream_gene_variant COAD-US 5 180668638 180668638 single base substitution C T exon_variant COAD-US 5 180668638 180668638 single base substitution C T intron_variant COAD-US 5 180668638 180668638 single base substitution C T missense_variant G12S 34G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G135S 403G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G143S 427G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G1S 1G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G25S 73G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G51S 151G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G54S 160G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G81S 241G>A COAD-US 5 180668638 180668638 single base substitution C T missense_variant G95S 283G>A COAD-US 5 180668638 180668638 single base substitution C T splice_region_variant COAD-US 5 180668638 180668638 single base substitution C T upstream_gene_variant COCA-CN 5 180661615 180661615 single base substitution G A downstream_gene_variant COCA-CN 5 180661667 180661668 deletion of <=200bp AG - downstream_gene_variant COCA-CN 5 180661859 180661859 single base substitution G A downstream_gene_variant COCA-CN 5 180664214 180664214 single base substitution G T 3_prime_UTR_variant COCA-CN 5 180664214 180664214 single base substitution G T downstream_gene_variant COCA-CN 5 180664214 180664214 single base substitution G T intron_variant COCA-CN 5 180664214 180664214 single base substitution G T missense_variant L238I 712C>A COCA-CN 5 180665065 180665065 single base substitution G C downstream_gene_variant COCA-CN 5 180665065 180665065 single base substitution G C intron_variant COCA-CN 5 180665065 180665065 single base substitution G C upstream_gene_variant COCA-CN 5 180666025 180666025 single base substitution C T downstream_gene_variant COCA-CN 5 180666025 180666025 single base substitution C T exon_variant COCA-CN 5 180666025 180666025 single base substitution C T intron_variant COCA-CN 5 180666025 180666025 single base substitution C T upstream_gene_variant COCA-CN 5 180671536 180671536 single base substitution G T intron_variant COCA-CN 5 180671536 180671536 single base substitution G T upstream_gene_variant COCA-CN 5 180673044 180673044 single base substitution T C intron_variant COCA-CN 5 180673044 180673044 single base substitution T C upstream_gene_variant COCA-CN 5 180674271 180674271 single base substitution A G intron_variant COCA-CN 5 180674271 180674271 single base substitution A G missense_variant S36P 106T>C COCA-CN 5 180674271 180674271 single base substitution A G upstream_gene_variant COCA-CN 5 180679653 180679653 single base substitution G A upstream_gene_variant EOPC-DE 5 180678124 180678124 single base substitution A G upstream_gene_variant ESAD-UK 5 180659088 180659088 single base substitution G A downstream_gene_variant ESAD-UK 5 180660677 180660677 single base substitution C T downstream_gene_variant ESAD-UK 5 180662008 180662008 single base substitution C T downstream_gene_variant ESAD-UK 5 180662599 180662600 deletion of <=200bp CC - downstream_gene_variant ESAD-UK 5 180662602 180662614 deletion of <=200bp TTCACTCCATTTG - downstream_gene_variant ESAD-UK 5 180664975 180664975 single base substitution T C downstream_gene_variant ESAD-UK 5 180664975 180664975 single base substitution T C intron_variant ESAD-UK 5 180664975 180664975 single base substitution T C upstream_gene_variant ESAD-UK 5 180665250 180665250 single base substitution G T 5_prime_UTR_variant ESAD-UK 5 180665250 180665250 single base substitution G T downstream_gene_variant ESAD-UK 5 180665250 180665250 single base substitution G T exon_variant ESAD-UK 5 180665250 180665250 single base substitution G T intron_variant ESAD-UK 5 180665250 180665250 single base substitution G T upstream_gene_variant ESAD-UK 5 180668982 180668982 single base substitution G T downstream_gene_variant ESAD-UK 5 180668982 180668982 single base substitution G T exon_variant ESAD-UK 5 180668982 180668982 single base substitution G T intron_variant ESAD-UK 5 180668982 180668982 single base substitution G T upstream_gene_variant ESAD-UK 5 180671045 180671045 single base substitution T A 5_prime_UTR_variant ESAD-UK 5 180671045 180671045 single base substitution T A intron_variant ESAD-UK 5 180671045 180671045 single base substitution T A upstream_gene_variant ESAD-UK 5 180675129 180675134 deletion of <=200bp TAGTTC - upstream_gene_variant ESAD-UK 5 180676489 180676489 single base substitution C A upstream_gene_variant ESAD-UK 5 180677519 180677519 single base substitution G A upstream_gene_variant ESAD-UK 5 180678073 180678073 single base substitution T C upstream_gene_variant ESAD-UK 5 180678978 180678978 single base substitution C T upstream_gene_variant ESCA-CN 5 180670433 180670433 single base substitution T G intron_variant ESCA-CN 5 180670433 180670433 single base substitution T G upstream_gene_variant ESCA-CN 5 180670470 180670470 single base substitution G C intron_variant ESCA-CN 5 180670470 180670470 single base substitution G C upstream_gene_variant KIRP-US 5 180661231 180661231 insertion of <=200bp - C downstream_gene_variant LAML-KR 5 180665065 180665065 single base substitution G C downstream_gene_variant LAML-KR 5 180665065 180665065 single base substitution G C intron_variant LAML-KR 5 180665065 180665065 single base substitution G C upstream_gene_variant LAML-KR 5 180669370 180669370 single base substitution A G downstream_gene_variant LAML-KR 5 180669370 180669370 single base substitution A G intron_variant LAML-KR 5 180669370 180669370 single base substitution A G upstream_gene_variant LICA-CN 5 180661681 180661681 single base substitution A G downstream_gene_variant LICA-CN 5 180664671 180664671 single base substitution T C 3_prime_UTR_variant LICA-CN 5 180664671 180664671 single base substitution T C downstream_gene_variant LICA-CN 5 180664671 180664671 single base substitution T C exon_variant LICA-CN 5 180664671 180664671 single base substitution T C intron_variant LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S156G 466A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S182G 544A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S206G 616A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S228G 682A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S232G 694A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S276G 826A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S294G 880A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S45G 133A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S49G 145A>G LICA-CN 5 180664671 180664671 single base substitution T C missense_variant S60G 178A>G LICA-CN 5 180666542 180666542 single base substitution G A 3_prime_UTR_variant LICA-CN 5 180666542 180666542 single base substitution G A downstream_gene_variant LICA-CN 5 180666542 180666542 single base substitution G A exon_variant LICA-CN 5 180666542 180666542 single base substitution G A intron_variant LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S109L 326C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S113L 338C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S116L 347C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S133L 398C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S143L 428C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S14L 41C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S157L 470C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S175L 524C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S197L 590C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S205L 614C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S63L 188C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S74L 221C>T LICA-CN 5 180666542 180666542 single base substitution G A missense_variant S87L 260C>T LICA-CN 5 180666542 180666542 single base substitution G A upstream_gene_variant LICA-FR 5 180670203 180670204 deletion of <=200bp AC - 5_prime_UTR_variant LICA-FR 5 180670203 180670204 deletion of <=200bp AC - exon_variant LICA-FR 5 180670203 180670204 deletion of <=200bp AC - intron_variant LICA-FR 5 180670203 180670204 deletion of <=200bp AC - upstream_gene_variant LICA-FR 5 180671413 180671413 single base substitution C T intron_variant LICA-FR 5 180671413 180671413 single base substitution C T upstream_gene_variant LICA-FR 5 180678291 180678291 insertion of <=200bp - A upstream_gene_variant LIHC-US 5 180661549 180661549 single base substitution G A downstream_gene_variant LIHC-US 5 180661725 180661725 single base substitution C A downstream_gene_variant LIHC-US 5 180662368 180662368 single base substitution A G downstream_gene_variant LIHC-US 5 180666567 180666567 single base substitution C G 3_prime_UTR_variant LIHC-US 5 180666567 180666567 single base substitution C G downstream_gene_variant LIHC-US 5 180666567 180666567 single base substitution C G exon_variant LIHC-US 5 180666567 180666567 single base substitution C G intron_variant LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E101Q 301G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E105Q 313G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E108Q 322G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E125Q 373G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E135Q 403G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E149Q 445G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E167Q 499G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E189Q 565G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E197Q 589G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E55Q 163G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E66Q 196G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E6Q 16G>C LIHC-US 5 180666567 180666567 single base substitution C G missense_variant E79Q 235G>C LIHC-US 5 180666567 180666567 single base substitution C G upstream_gene_variant LINC-JP 5 180660551 180660551 single base substitution G T downstream_gene_variant LINC-JP 5 180661473 180661473 single base substitution C T downstream_gene_variant LINC-JP 5 180662103 180662103 single base substitution A G downstream_gene_variant LINC-JP 5 180669035 180669035 single base substitution C A downstream_gene_variant LINC-JP 5 180669035 180669035 single base substitution C A exon_variant LINC-JP 5 180669035 180669035 single base substitution C A intron_variant LINC-JP 5 180669035 180669035 single base substitution C A upstream_gene_variant LINC-JP 5 180670113 180670113 single base substitution T C 5_prime_UTR_variant LINC-JP 5 180670113 180670113 single base substitution T C exon_variant LINC-JP 5 180670113 180670113 single base substitution T C intron_variant LINC-JP 5 180670113 180670113 single base substitution T C upstream_gene_variant LINC-JP 5 180671017 180671017 single base substitution A T 5_prime_UTR_variant LINC-JP 5 180671017 180671017 single base substitution A T intron_variant LINC-JP 5 180671017 180671017 single base substitution A T upstream_gene_variant LINC-JP 5 180678430 180678430 insertion of <=200bp - A upstream_gene_variant LINC-JP 5 180679120 180679120 single base substitution A C upstream_gene_variant LINC-JP 5 180679126 180679126 single base substitution A G upstream_gene_variant LIRI-JP 5 180660827 180660827 single base substitution G A downstream_gene_variant LIRI-JP 5 180661607 180661607 single base substitution A G downstream_gene_variant LIRI-JP 5 180662601 180662601 single base substitution T C downstream_gene_variant LIRI-JP 5 180662676 180662676 single base substitution A T downstream_gene_variant LIRI-JP 5 180663351 180663351 single base substitution T C downstream_gene_variant LIRI-JP 5 180663555 180663557 deletion of <=200bp GAG - downstream_gene_variant LIRI-JP 5 180663908 180663908 single base substitution T C downstream_gene_variant LIRI-JP 5 180665404 180665404 single base substitution T C 5_prime_UTR_variant LIRI-JP 5 180665404 180665404 single base substitution T C downstream_gene_variant LIRI-JP 5 180665404 180665404 single base substitution T C exon_variant LIRI-JP 5 180665404 180665404 single base substitution T C intron_variant LIRI-JP 5 180665404 180665404 single base substitution T C upstream_gene_variant LIRI-JP 5 180666763 180666763 single base substitution A C downstream_gene_variant LIRI-JP 5 180666763 180666763 single base substitution A C intron_variant LIRI-JP 5 180666763 180666763 single base substitution A C upstream_gene_variant LIRI-JP 5 180668994 180668994 single base substitution T A downstream_gene_variant LIRI-JP 5 180668994 180668994 single base substitution T A exon_variant LIRI-JP 5 180668994 180668994 single base substitution T A intron_variant LIRI-JP 5 180668994 180668994 single base substitution T A upstream_gene_variant LIRI-JP 5 180673069 180673069 single base substitution C A intron_variant LIRI-JP 5 180673069 180673069 single base substitution C A upstream_gene_variant LIRI-JP 5 180674911 180674911 single base substitution A C intron_variant LIRI-JP 5 180674911 180674911 single base substitution A C upstream_gene_variant LIRI-JP 5 180679704 180679704 single base substitution A C upstream_gene_variant LUSC-KR 5 180661824 180661824 single base substitution T G downstream_gene_variant LUSC-KR 5 180662949 180662949 single base substitution C T downstream_gene_variant LUSC-KR 5 180663012 180663012 single base substitution C G downstream_gene_variant LUSC-KR 5 180668444 180668444 single base substitution G A downstream_gene_variant LUSC-KR 5 180668444 180668444 single base substitution G A exon_variant LUSC-KR 5 180668444 180668444 single base substitution G A intron_variant LUSC-KR 5 180668444 180668444 single base substitution G A upstream_gene_variant LUSC-KR 5 180678327 180678327 single base substitution G C upstream_gene_variant LUSC-US 5 180660676 180660676 single base substitution C T downstream_gene_variant MALY-DE 5 180660053 180660053 single base substitution T C downstream_gene_variant MALY-DE 5 180662206 180662206 single base substitution T C downstream_gene_variant MALY-DE 5 180662731 180662731 single base substitution T C downstream_gene_variant MALY-DE 5 180669165 180669165 single base substitution G A downstream_gene_variant MALY-DE 5 180669165 180669165 single base substitution G A exon_variant MALY-DE 5 180669165 180669165 single base substitution G A intron_variant MALY-DE 5 180669165 180669165 single base substitution G A splice_region_variant MALY-DE 5 180669165 180669165 single base substitution G A upstream_gene_variant MALY-DE 5 180670029 180670029 single base substitution G A 5_prime_UTR_variant MALY-DE 5 180670029 180670029 single base substitution G A downstream_gene_variant MALY-DE 5 180670029 180670029 single base substitution G A intron_variant MALY-DE 5 180670029 180670029 single base substitution G A upstream_gene_variant MALY-DE 5 180670158 180670158 single base substitution T G 5_prime_UTR_variant MALY-DE 5 180670158 180670158 single base substitution T G exon_variant MALY-DE 5 180670158 180670158 single base substitution T G intron_variant MALY-DE 5 180670158 180670158 single base substitution T G upstream_gene_variant MALY-DE 5 180672824 180672824 single base substitution A T intron_variant MALY-DE 5 180672824 180672824 single base substitution A T upstream_gene_variant MALY-DE 5 180675936 180675936 single base substitution C T upstream_gene_variant MELA-AU 5 180659038 180659038 single base substitution C T downstream_gene_variant MELA-AU 5 180659705 180659705 single base substitution G A downstream_gene_variant MELA-AU 5 180663811 180663811 single base substitution T C downstream_gene_variant MELA-AU 5 180664595 180664595 single base substitution A C downstream_gene_variant MELA-AU 5 180664595 180664595 single base substitution A C intron_variant MELA-AU 5 180664595 180664595 single base substitution A C missense_variant V74G 221T>G MELA-AU 5 180664597 180664597 single base substitution A G downstream_gene_variant MELA-AU 5 180664597 180664597 single base substitution A G intron_variant MELA-AU 5 180664597 180664597 single base substitution A G synonymous_variant S73S 219T>C MELA-AU 5 180665212 180665212 single base substitution T C 3_prime_UTR_variant MELA-AU 5 180665212 180665212 single base substitution T C downstream_gene_variant MELA-AU 5 180665212 180665212 single base substitution T C exon_variant MELA-AU 5 180665212 180665212 single base substitution T C intron_variant MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N102D 304A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N128D 382A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N152D 454A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N174D 520A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N178D 532A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N181D 541A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N208D 622A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N222D 664A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N240D 718A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N270D 808A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N6D 16A>G MELA-AU 5 180665212 180665212 single base substitution T C missense_variant N79D 235A>G MELA-AU 5 180665212 180665212 single base substitution T C upstream_gene_variant MELA-AU 5 180665618 180665618 single base substitution A G 5_prime_UTR_variant MELA-AU 5 180665618 180665618 single base substitution A G downstream_gene_variant MELA-AU 5 180665618 180665618 single base substitution A G exon_variant MELA-AU 5 180665618 180665618 single base substitution A G intron_variant MELA-AU 5 180665618 180665618 single base substitution A G upstream_gene_variant MELA-AU 5 180665620 180665620 single base substitution C A 5_prime_UTR_variant MELA-AU 5 180665620 180665620 single base substitution C A downstream_gene_variant MELA-AU 5 180665620 180665620 single base substitution C A exon_variant MELA-AU 5 180665620 180665620 single base substitution C A intron_variant MELA-AU 5 180665620 180665620 single base substitution C A upstream_gene_variant MELA-AU 5 180665753 180665753 single base substitution C T downstream_gene_variant MELA-AU 5 180665753 180665753 single base substitution C T exon_variant MELA-AU 5 180665753 180665753 single base substitution C T intron_variant MELA-AU 5 180665753 180665753 single base substitution C T upstream_gene_variant MELA-AU 5 180665788 180665788 single base substitution G A downstream_gene_variant MELA-AU 5 180665788 180665788 single base substitution G A exon_variant MELA-AU 5 180665788 180665788 single base substitution G A intron_variant MELA-AU 5 180665788 180665788 single base substitution G A upstream_gene_variant MELA-AU 5 180665953 180665953 single base substitution T A downstream_gene_variant MELA-AU 5 180665953 180665953 single base substitution T A exon_variant MELA-AU 5 180665953 180665953 single base substitution T A intron_variant MELA-AU 5 180665953 180665953 single base substitution T A upstream_gene_variant MELA-AU 5 180666405 180666405 single base substitution A T downstream_gene_variant MELA-AU 5 180666405 180666405 single base substitution A T exon_variant MELA-AU 5 180666405 180666405 single base substitution A T intron_variant MELA-AU 5 180666405 180666405 single base substitution A T upstream_gene_variant MELA-AU 5 180668082 180668082 deletion of <=200bp C - downstream_gene_variant MELA-AU 5 180668082 180668082 deletion of <=200bp C - exon_variant MELA-AU 5 180668082 180668082 deletion of <=200bp C - intron_variant MELA-AU 5 180668082 180668082 deletion of <=200bp C - upstream_gene_variant MELA-AU 5 180668651 180668651 single base substitution G A downstream_gene_variant MELA-AU 5 180668651 180668651 single base substitution G A exon_variant MELA-AU 5 180668651 180668651 single base substitution G A intron_variant MELA-AU 5 180668651 180668651 single base substitution G A upstream_gene_variant MELA-AU 5 180670462 180670462 single base substitution G A intron_variant MELA-AU 5 180670462 180670462 single base substitution G A upstream_gene_variant MELA-AU 5 180670663 180670663 single base substitution C T intron_variant MELA-AU 5 180670663 180670663 single base substitution C T upstream_gene_variant MELA-AU 5 180670925 180670925 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 180670925 180670925 single base substitution G A exon_variant MELA-AU 5 180670925 180670925 single base substitution G A intron_variant MELA-AU 5 180670925 180670925 single base substitution G A upstream_gene_variant MELA-AU 5 180670926 180670926 single base substitution G A 5_prime_UTR_variant MELA-AU 5 180670926 180670926 single base substitution G A exon_variant MELA-AU 5 180670926 180670926 single base substitution G A intron_variant MELA-AU 5 180670926 180670926 single base substitution G A upstream_gene_variant MELA-AU 5 180670945 180670945 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 180670945 180670945 single base substitution G A exon_variant MELA-AU 5 180670945 180670945 single base substitution G A intron_variant MELA-AU 5 180670945 180670945 single base substitution G A upstream_gene_variant MELA-AU 5 180671424 180671425 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 180671424 180671425 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 180672065 180672065 single base substitution C T intron_variant MELA-AU 5 180672065 180672065 single base substitution C T upstream_gene_variant MELA-AU 5 180673480 180673480 single base substitution C T intron_variant MELA-AU 5 180673480 180673480 single base substitution C T upstream_gene_variant MELA-AU 5 180674240 180674240 single base substitution C T intron_variant MELA-AU 5 180674240 180674240 single base substitution C T missense_variant G46D 137G>A MELA-AU 5 180674240 180674240 single base substitution C T upstream_gene_variant MELA-AU 5 180675116 180675116 single base substitution C T upstream_gene_variant MELA-AU 5 180675233 180675233 single base substitution G A upstream_gene_variant MELA-AU 5 180678357 180678357 single base substitution G T upstream_gene_variant MELA-AU 5 180679056 180679056 single base substitution C T upstream_gene_variant MELA-AU 5 180679326 180679326 single base substitution A G upstream_gene_variant OV-AU 5 180661985 180661985 single base substitution C G downstream_gene_variant OV-AU 5 180665164 180665164 single base substitution C T 3_prime_UTR_variant OV-AU 5 180665164 180665164 single base substitution C T downstream_gene_variant OV-AU 5 180665164 180665164 single base substitution C T exon_variant OV-AU 5 180665164 180665164 single base substitution C T intron_variant OV-AU 5 180665164 180665164 single base substitution C T missense_variant A118T 352G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A11T 31G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A144T 430G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A168T 502G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A190T 568G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A194T 580G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A224T 670G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A22T 64G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A238T 712G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A256T 766G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A286T 856G>A OV-AU 5 180665164 180665164 single base substitution C T missense_variant A95T 283G>A OV-AU 5 180665164 180665164 single base substitution C T upstream_gene_variant OV-AU 5 180668102 180668102 single base substitution G C downstream_gene_variant OV-AU 5 180668102 180668102 single base substitution G C exon_variant OV-AU 5 180668102 180668102 single base substitution G C intron_variant OV-AU 5 180668102 180668102 single base substitution G C upstream_gene_variant OV-AU 5 180673370 180673370 single base substitution C A intron_variant OV-AU 5 180673370 180673370 single base substitution C A upstream_gene_variant PACA-AU 5 180660474 180660474 single base substitution T A downstream_gene_variant PACA-AU 5 180661502 180661502 single base substitution C G downstream_gene_variant PACA-AU 5 180670098 180670098 single base substitution C T 5_prime_UTR_variant PACA-AU 5 180670098 180670098 single base substitution C T exon_variant PACA-AU 5 180670098 180670098 single base substitution C T intron_variant PACA-AU 5 180670098 180670098 single base substitution C T upstream_gene_variant PACA-AU 5 180675576 180675576 single base substitution C T upstream_gene_variant PACA-CA 5 180659623 180659623 single base substitution G A downstream_gene_variant PACA-CA 5 180665731 180665731 single base substitution G A downstream_gene_variant PACA-CA 5 180665731 180665731 single base substitution G A exon_variant PACA-CA 5 180665731 180665731 single base substitution G A intron_variant PACA-CA 5 180665731 180665731 single base substitution G A upstream_gene_variant PACA-CA 5 180665747 180665747 single base substitution C T downstream_gene_variant PACA-CA 5 180665747 180665747 single base substitution C T exon_variant PACA-CA 5 180665747 180665747 single base substitution C T intron_variant PACA-CA 5 180665747 180665747 single base substitution C T upstream_gene_variant PACA-CA 5 180667049 180667049 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 5 180667049 180667049 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 180667049 180667049 deletion of <=200bp A - intron_variant PACA-CA 5 180667049 180667049 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 180671199 180671199 single base substitution C T 5_prime_UTR_variant PACA-CA 5 180671199 180671199 single base substitution C T intron_variant PACA-CA 5 180671199 180671199 single base substitution C T upstream_gene_variant PACA-CA 5 180673549 180673549 single base substitution T C intron_variant PACA-CA 5 180673549 180673549 single base substitution T C upstream_gene_variant PACA-CA 5 180674264 180674264 single base substitution T C intron_variant PACA-CA 5 180674264 180674264 single base substitution T C missense_variant Q38R 113A>G PACA-CA 5 180674264 180674264 single base substitution T C upstream_gene_variant PACA-CA 5 180674975 180674975 single base substitution C G intron_variant PACA-CA 5 180674975 180674975 single base substitution C G upstream_gene_variant PACA-CA 5 180675146 180675146 single base substitution G T upstream_gene_variant PBCA-DE 5 180680095 180680095 insertion of <=200bp - AC upstream_gene_variant PBCA-DE 5 180680096 180680096 deletion of <=200bp T - upstream_gene_variant PRAD-CA 5 180663787 180663787 single base substitution G A downstream_gene_variant PRAD-CA 5 180665001 180665001 single base substitution A T downstream_gene_variant PRAD-CA 5 180665001 180665001 single base substitution A T intron_variant PRAD-CA 5 180665001 180665001 single base substitution A T upstream_gene_variant PRAD-UK 5 180662378 180662381 deletion of <=200bp GAGA - downstream_gene_variant PRAD-UK 5 180680003 180680003 single base substitution T C upstream_gene_variant RECA-EU 5 180663338 180663338 single base substitution A G downstream_gene_variant RECA-EU 5 180663397 180663397 single base substitution G A downstream_gene_variant SKCA-BR 5 180660045 180660045 single base substitution A G downstream_gene_variant SKCA-BR 5 180667048 180667048 single base substitution C A 3_prime_UTR_variant SKCA-BR 5 180667048 180667048 single base substitution C A downstream_gene_variant SKCA-BR 5 180667048 180667048 single base substitution C A intron_variant SKCA-BR 5 180667048 180667048 single base substitution C A upstream_gene_variant SKCA-BR 5 180671655 180671655 single base substitution T G intron_variant SKCA-BR 5 180671655 180671655 single base substitution T G upstream_gene_variant SKCA-BR 5 180673982 180673982 single base substitution C G intron_variant SKCA-BR 5 180673982 180673982 single base substitution C G upstream_gene_variant SKCM-US 5 180659705 180659705 single base substitution G A downstream_gene_variant SKCM-US 5 180661489 180661489 single base substitution G A downstream_gene_variant SKCM-US 5 180665143 180665143 single base substitution G A 3_prime_UTR_variant SKCM-US 5 180665143 180665143 single base substitution G A downstream_gene_variant SKCM-US 5 180665143 180665143 single base substitution G A exon_variant SKCM-US 5 180665143 180665143 single base substitution G A intron_variant SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R102C 304C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R125C 373C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R151C 451C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R175C 523C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R18C 52C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R197C 589C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R201C 601C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R231C 691C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R245C 733C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R263C 787C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R293C 877C>T SKCM-US 5 180665143 180665143 single base substitution G A missense_variant R29C 85C>T SKCM-US 5 180665143 180665143 single base substitution G A upstream_gene_variant SKCM-US 5 180665212 180665212 single base substitution T C 3_prime_UTR_variant SKCM-US 5 180665212 180665212 single base substitution T C downstream_gene_variant SKCM-US 5 180665212 180665212 single base substitution T C exon_variant SKCM-US 5 180665212 180665212 single base substitution T C intron_variant SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N102D 304A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N128D 382A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N152D 454A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N174D 520A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N178D 532A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N181D 541A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N208D 622A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N222D 664A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N240D 718A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N270D 808A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N6D 16A>G SKCM-US 5 180665212 180665212 single base substitution T C missense_variant N79D 235A>G SKCM-US 5 180665212 180665212 single base substitution T C upstream_gene_variant SKCM-US 5 180666103 180666103 single base substitution G A 3_prime_UTR_variant SKCM-US 5 180666103 180666103 single base substitution G A downstream_gene_variant SKCM-US 5 180666103 180666103 single base substitution G A exon_variant SKCM-US 5 180666103 180666103 single base substitution G A intron_variant SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V106V 318C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V130V 390C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V152V 456C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V156V 468C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V159V 477C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V186V 558C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V200V 600C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V218V 654C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V248V 744C>T SKCM-US 5 180666103 180666103 single base substitution G A synonymous_variant V57V 171C>T SKCM-US 5 180666103 180666103 single base substitution G A upstream_gene_variant SKCM-US 5 180668525 180668525 single base substitution C T 3_prime_UTR_variant SKCM-US 5 180668525 180668525 single base substitution C T downstream_gene_variant SKCM-US 5 180668525 180668525 single base substitution C T exon_variant SKCM-US 5 180668525 180668525 single base substitution C T intron_variant SKCM-US 5 180668525 180668525 single base substitution C T missense_variant G107E 320G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W108* 324G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W118* 354G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W132* 396G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W172* 516G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W180* 540G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W38* 114G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W49* 147G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W62* 186G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W88* 264G>A SKCM-US 5 180668525 180668525 single base substitution C T stop_gained W91* 273G>A SKCM-US 5 180668525 180668525 single base substitution C T upstream_gene_variant SKCM-US 5 180668594 180668594 single base substitution C T 3_prime_UTR_variant SKCM-US 5 180668594 180668594 single base substitution C T downstream_gene_variant SKCM-US 5 180668594 180668594 single base substitution C T exon_variant SKCM-US 5 180668594 180668594 single base substitution C T intron_variant SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L109L 327G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L149L 447G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L157L 471G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L15L 45G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L26L 78G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L39L 117G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L65L 195G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L68L 204G>A SKCM-US 5 180668594 180668594 single base substitution C T synonymous_variant L95L 285G>A SKCM-US 5 180668594 180668594 single base substitution C T upstream_gene_variant SKCM-US 5 180668622 180668622 single base substitution C A 3_prime_UTR_variant SKCM-US 5 180668622 180668622 single base substitution C A downstream_gene_variant SKCM-US 5 180668622 180668622 single base substitution C A exon_variant SKCM-US 5 180668622 180668622 single base substitution C A intron_variant SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R100L 299G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R140L 419G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R148L 443G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R17L 50G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R30L 89G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R56L 167G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R59L 176G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R6L 17G>T SKCM-US 5 180668622 180668622 single base substitution C A missense_variant R86L 257G>T SKCM-US 5 180668622 180668622 single base substitution C A upstream_gene_variant STAD-US 5 180659794 180659794 single base substitution G A downstream_gene_variant STAD-US 5 180661180 180661180 single base substitution T G downstream_gene_variant STAD-US 5 180661295 180661295 single base substitution C T downstream_gene_variant STAD-US 5 180661483 180661483 single base substitution G A downstream_gene_variant STAD-US 5 180661667 180661668 deletion of <=200bp AG - downstream_gene_variant STAD-US 5 180661717 180661718 deletion of <=200bp GT - downstream_gene_variant STAD-US 5 180664659 180664659 single base substitution T C 3_prime_UTR_variant STAD-US 5 180664659 180664659 single base substitution T C downstream_gene_variant STAD-US 5 180664659 180664659 single base substitution T C exon_variant STAD-US 5 180664659 180664659 single base substitution T C intron_variant STAD-US 5 180664659 180664659 single base substitution T C missense_variant K160E 478A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K186E 556A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K210E 628A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K232E 694A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K236E 706A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K280E 838A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K298E 892A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K49E 145A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K53E 157A>G STAD-US 5 180664659 180664659 single base substitution T C missense_variant K64E 190A>G STAD-US 5 180664713 180664713 single base substitution C G 3_prime_UTR_variant STAD-US 5 180664713 180664713 single base substitution C G downstream_gene_variant STAD-US 5 180664713 180664713 single base substitution C G exon_variant STAD-US 5 180664713 180664713 single base substitution C G intron_variant STAD-US 5 180664713 180664713 single base substitution C G missense_variant E142Q 424G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E168Q 502G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E192Q 574G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E214Q 640G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E218Q 652G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E262Q 784G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E280Q 838G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E35Q 103G>C STAD-US 5 180664713 180664713 single base substitution C G missense_variant E46Q 136G>C STAD-US 5 180665127 180665127 single base substitution G A 3_prime_UTR_variant STAD-US 5 180665127 180665127 single base substitution G A downstream_gene_variant STAD-US 5 180665127 180665127 single base substitution G A exon_variant STAD-US 5 180665127 180665127 single base substitution G A intron_variant STAD-US 5 180665127 180665127 single base substitution G A missense_variant A107V 320C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A130V 389C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A156V 467C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A180V 539C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A202V 605C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A206V 617C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A236V 707C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A23V 68C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A250V 749C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A268V 803C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A298V 893C>T STAD-US 5 180665127 180665127 single base substitution G A missense_variant A34V 101C>T STAD-US 5 180665127 180665127 single base substitution G A upstream_gene_variant STAD-US 5 180665164 180665164 single base substitution C T 3_prime_UTR_variant STAD-US 5 180665164 180665164 single base substitution C T downstream_gene_variant STAD-US 5 180665164 180665164 single base substitution C T exon_variant STAD-US 5 180665164 180665164 single base substitution C T intron_variant STAD-US 5 180665164 180665164 single base substitution C T missense_variant A118T 352G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A11T 31G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A144T 430G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A168T 502G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A190T 568G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A194T 580G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A224T 670G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A22T 64G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A238T 712G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A256T 766G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A286T 856G>A STAD-US 5 180665164 180665164 single base substitution C T missense_variant A95T 283G>A STAD-US 5 180665164 180665164 single base substitution C T upstream_gene_variant STAD-US 5 180666109 180666109 single base substitution C T 3_prime_UTR_variant STAD-US 5 180666109 180666109 single base substitution C T downstream_gene_variant STAD-US 5 180666109 180666109 single base substitution C T exon_variant STAD-US 5 180666109 180666109 single base substitution C T intron_variant STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V104V 312G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V128V 384G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V150V 450G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V154V 462G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V157V 471G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V184V 552G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V198V 594G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V216V 648G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V246V 738G>A STAD-US 5 180666109 180666109 single base substitution C T synonymous_variant V55V 165G>A STAD-US 5 180666109 180666109 single base substitution C T upstream_gene_variant UCEC-US 5 180659802 180659802 single base substitution T C downstream_gene_variant UCEC-US 5 180660759 180660759 single base substitution G A downstream_gene_variant UCEC-US 5 180661715 180661715 single base substitution G A downstream_gene_variant UCEC-US 5 180662362 180662362 single base substitution G T downstream_gene_variant UCEC-US 5 180665102 180665102 single base substitution G T 3_prime_UTR_variant UCEC-US 5 180665102 180665102 single base substitution G T downstream_gene_variant UCEC-US 5 180665102 180665102 single base substitution G T exon_variant UCEC-US 5 180665102 180665102 single base substitution G T intron_variant UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I115I 345C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I138I 414C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I164I 492C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I188I 564C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I210I 630C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I214I 642C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I258I 774C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I276I 828C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I31I 93C>A UCEC-US 5 180665102 180665102 single base substitution G T synonymous_variant I42I 126C>A UCEC-US 5 180665102 180665102 single base substitution G T upstream_gene_variant UCEC-US 5 180666574 180666574 single base substitution G T 3_prime_UTR_variant UCEC-US 5 180666574 180666574 single base substitution G T downstream_gene_variant UCEC-US 5 180666574 180666574 single base substitution G T exon_variant UCEC-US 5 180666574 180666574 single base substitution G T intron_variant UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S102R 306C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S105R 315C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S122R 366C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S132R 396C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S146R 438C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S164R 492C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S186R 558C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S194R 582C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S3R 9C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S52R 156C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S63R 189C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S76R 228C>A UCEC-US 5 180666574 180666574 single base substitution G T missense_variant S98R 294C>A UCEC-US 5 180666574 180666574 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T96 COSM134108 c.373C>T p.R125* Substitution - Nonsense 5:181241548-181241548 - AOCS-157-1-3 COSM3854472 c.712G>A p.A238T Substitution - Missense 5:181238164-181238164 - S18_post COSM5574648 c.737A>G p.Y246C Substitution - Missense 5:181238139-181238139 - BK0017 COSM4186014 c.340T>G p.S114A Substitution - Missense 5:181241581-181241581 - TCGA-A2-A0SW-01 COSM449485 c.260T>G p.L87R Substitution - Missense 5:181242195-181242195 - TCGA-BR-8360-01 COSM3854470 c.838A>G p.K280E Substitution - Missense 5:181237659-181237659 - SC_9083 COSM5547486 c.848delC p.P283fs*30 Deletion - Frameshift 5:181237649-181237649 - cSCCP1 COSM134107 c.470C>T p.S157L Substitution - Missense 5:181239542-181239542 - cSCCP1 COSM134108 c.373C>T p.R125* Substitution - Nonsense 5:181241548-181241548 - TCGA-BG-A0VW-01 COSM1066941 c.774C>A p.I258I Substitution - coding silent 5:181238102-181238102 - MU_31 COSM5967108 c.169C>G p.R57G Substitution - Missense 5:181242286-181242286 - LUAD-B00416 COSM355467 c.170G>T p.R57L Substitution - Missense 5:181242285-181242285 - Pat_40_A COSM5868351 c.628G>A p.G210R Substitution - Missense 5:181239075-181239075 - TCGA-BR-7716-01 COSM3854471 c.784G>C p.E262Q Substitution - Missense 5:181237713-181237713 - 489 COSM3721942 c.616C>T p.L206F Substitution - Missense 5:181239087-181239087 - S18_pre COSM5574648 c.737A>G p.Y246C Substitution - Missense 5:181238139-181238139 - T2940 COSM4687442 c.908C>T p.T303M Substitution - Missense 5:181237023-181237023 - 1_PRE-TREATMENT COSM1718976 c.637-4C>T p.? Unknown 5:181238243-181238243 - Pat_01_B COSM3013129 c.749C>T p.A250V Substitution - Missense 5:181238127-181238127 - GCT67 COSM5749938 c.341C>A p.S114Y Substitution - Missense 5:181241580-181241580 - TCGA-BC-A10Z-01 COSM4936229 c.445G>C p.E149Q Substitution - Missense 5:181239567-181239567 - LUAD-D01382 COSM363050 c.425T>C p.V142A Substitution - Missense 5:181241496-181241496 - ESO-0292 COSM1241218 c.635A>G p.K212R Substitution - Missense 5:181239068-181239068 - TCGA-E9-A1N9-01 COSM1486697 c.735C>G p.R245R Substitution - coding silent 5:181238141-181238141 - LOVO COSM1436776 c.342_344delCTC p.S115delS Deletion - In frame 5:181241577-181241579 - HT115 COSM3013126 c.821T>G p.V274G Substitution - Missense 5:181237676-181237676 - TCGA-EE-A29Q-06 COSM3615057 c.299G>T p.R100L Substitution - Missense 5:181241622-181241622 - 6115250 COSM5556355 c.562C>G p.H188D Substitution - Missense 5:181239141-181239141 - TCGA-B7-5818-01 COSM3013129 c.749C>T p.A250V Substitution - Missense 5:181238127-181238127 - ACINAR25 COSM1733671 c.889-2A>C p.? Unknown 5:181237044-181237044 - TCGA-EE-A2GO-06 COSM3615056 c.327G>A p.L109L Substitution - coding silent 5:181241594-181241594 - 229 COSM4426315 c.352C>T p.R118W Substitution - Missense 5:181241569-181241569 - TCGA-AD-5900-01 COSM1436775 c.348C>T p.D116D Substitution - coding silent 5:181241573-181241573 - TCGA-EE-A29N-06 COSM3615055 c.396G>A p.W132* Substitution - Nonsense 5:181241525-181241525 - HCT15 COSM3013136 c.240A>G p.S80S Substitution - coding silent 5:181242215-181242215 - TCGA-D5-5540-01 COSM1436777 c.283G>A p.G95S Substitution - Missense 5:181241638-181241638 - T3090 COSM4687444 c.74_75insC p.Q26fs*13 Insertion - Frameshift 5:181243726-181243727 - TCGA-AA-3510-01 COSM1436774 c.495C>T p.I165I Substitution - coding silent 5:181239517-181239517 - TCGA-AC-A23H-01 COSM3827905 c.357G>T p.Q119H Substitution - Missense 5:181241564-181241564 - ESCC_5 COSM5623270 c.714C>T p.A238A Substitution - coding silent 5:181238162-181238162 - ESO-114 COSM1253364 c.107G>C p.R36P Substitution - Missense 5:181243694-181243694 - HCC022T COSM5817731 c.826A>G p.S276G Substitution - Missense 5:181237671-181237671 - DLD1 COSM3013136 c.240A>G p.S80S Substitution - coding silent 5:181242215-181242215 - TCGA-BR-7722-01 COSM3854472 c.712G>A p.A238T Substitution - Missense 5:181238164-181238164 - ICC011T COSM134107 c.470C>T p.S157L Substitution - Missense 5:181239542-181239542 - TCGA-B5-A0JY-01 COSM1066943 c.438C>A p.S146R Substitution - Missense 5:181239574-181239574 - TCGA-E9-A1R4-01 COSM1486698 c.435G>A p.E145E Substitution - coding silent 5:181239577-181239577 - 1_RESISTANT COSM1718976 c.637-4C>T p.? Unknown 5:181238243-181238243 - TCGA-FS-A1ZM-06 COSM3615054 c.600C>T p.V200V Substitution - coding silent 5:181239103-181239103 - TCGA-EE-A2MF-06 COSM4892597 c.664A>G p.N222D Substitution - Missense 5:181238212-181238212 - HSJD_DIPG004 COSM4745968 c.22C>T p.R8C Substitution - Missense 5:181243779-181243779 - TCGA-A6-6653-01 COSM1436776 c.342_344delCTC p.S115delS Deletion - In frame 5:181241577-181241579 - T3262 COSM4687443 c.224G>A p.G75D Substitution - Missense 5:181242231-181242231 - TCGA-FR-A3YN-06 COSM3615053 c.733C>T p.R245C Substitution - Missense 5:181238143-181238143 - TCGA-FD-A3B8-01 COSM1311066 c.327G>C p.L109L Substitution - coding silent 5:181241594-181241594 - LUAD-TLLGS COSM388401 c.462C>G p.V154V Substitution - coding silent 5:181239550-181239550 - 587316 COSM1208410 c.281C>T p.T94M Substitution - Missense 5:181242174-181242174 - TCGA-HU-A4G8-01 COSM3854473 c.594G>A p.V198V Substitution - coding silent 5:181239109-181239109 - Pat_40_B COSM5868351 c.628G>A p.G210R Substitution - Missense 5:181239075-181239075 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.5662 5q35.3 176981 2465525|CGAP|BC000214|A/G|coding|Tyr194Cys|704|Candidate; 2465525|CGAP|BC000366|A/G|coding|Tyr194Cys|674|Candidate; 2465525|CGAP|BC010119|A/G|coding|Tyr194Cys|661|Candidate; 2465525|CGAP|BC014256|A/G|coding|Tyr194Cys|663|Candidate; 2465525|CGAP|BC014788|A/G|coding|Tyr194Cys|670|Candidate; 2465525|CGAP|BC017287|A/G|coding|Tyr194Cys|651|Candidate; 2465525|CGAP|BC019093|A/G|coding|Tyr194Cys|664|Candidate; 2465525|CGAP|BC019362|A/G|coding|Tyr194Cys|668|Candidate; 2465525|CGAP|BC021993|A/G|coding|Tyr194Cys|686|Candidate; 2465525|CGAP|BC032006|A/G|coding|Tyr194Cys|665|Candidate; 1526087|dbSNP|BC000214|C/T|coding|Ile258Ile|897|Candidate; 1526087|dbSNP|BC000366|C/T|coding|Ile258Ile|867|Candidate; 1526087|dbSNP|BC010119|C/T|coding|Ile258Ile|854|Candidate; 1526087|dbSNP|BC014256|C/T|coding|Ile258Ile|856|Candidate; 1526087|dbSNP|BC014788|C/T|coding|Ile258Ile|863|Candidate; 1526087|dbSNP|BC017287|C/T|coding|Ile258Ile|844|Candidate; 1526087|dbSNP|BC019093|C/T|coding|Ile258Ile|857|Candidate; 1526087|dbSNP|BC019362|C/T|coding|Ile258Ile|861|Candidate; 1526087|dbSNP|BC021993|C/T|coding|Ile258Ile|879|Candidate; 1526087|dbSNP|BC032006|C/T|coding|Ile258Ile|858|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L87R c.260T>G 5 180669195 BRCA A G IntronicSNV . c.525+42T>C 5 180666445 CM A G Missense p.V142A c.425T>C 5 180668496 LUAD C A Missense p.R100L c.299G>T 5 180668622 CM C G Missense p.R36P c.107G>C 5 180670694 ESCA C G Synonymous p.L109L c.327G>C 5 180668594 BLCA C T Missense p.D116N c.346G>A 5 180668575 LUAD C T Nonsense p.W132* c.396G>A 5 180668525 CM C T Synonymous p.E145E c.435G>A 5 180666577 BRCA C T Synonymous p.L109L c.327G>A 5 180668594 CM G A IntronicSNV . c.429+143C>T 5 180668349 CM G A Missense p.L206F c.616C>T 5 180666087 HNSC G A Synonymous p.L206L c.618C>T 5 180666085 HNSC G A Synonymous p.V200V c.600C>T 5 180666103 CM G C 5-UTRSNV . c.1-12C>G 5 180670812 RCCC G C Synonymous p.R245R c.735C>G 5 180665141 BRCA G T Synonymous p.I258I c.774C>A 5 180665102 UCEC T C Missense p.N222D c.664A>G 5 180665212 CM